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##fileformat=VCFv4.1
##FILTER=<ID=LowQual,Description="Low quality">
##FILTER=<ID=VQSRTrancheINDEL99.00to99.90,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -27.3228 <= x < -0.3675">
##FILTER=<ID=VQSRTrancheINDEL99.90to100.00+,Description="Truth sensitivity tranche level for INDEL model at VQS Lod < -431.4208">
##FILTER=<ID=VQSRTrancheINDEL99.90to100.00,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -431.4208 <= x < -27.3228">
##FILTER=<ID=VQSRTrancheSNP99.00to99.90,Description="Truth sensitivity tranche level for SNP model at VQS Lod: -5.2299 <= x < 0.4253">
##FILTER=<ID=VQSRTrancheSNP99.90to100.00+,Description="Truth sensitivity tranche level for SNP model at VQS Lod < -1670.295">
##FILTER=<ID=VQSRTrancheSNP99.90to100.00,Description="Truth sensitivity tranche level for SNP model at VQS Lod: -1670.295 <= x < -5.2299">
##FORMAT=<ID=AD,Number=.,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)">
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
##FORMAT=<ID=TP,Number=1,Type=Integer,Description="Phred score of the genotype combination and phase given that the genotypes are correct">
##GATKCommandLine=<ID=ApplyRecalibration,Version=3.3-0-g37228af,Date="Tue Apr 28 22:22:48 CDT 2015",Epoch=1430277768093,CommandLineOptions="analysis_type=ApplyRecalibration input_file=[] showFullBamList=false read_buffer_size=null phone_home=NO_ET gatk_key=/biotools/biotools/gatk/current/volety.rama_mayo.edu.key tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/dlmp/misc-data/reference/ggpsReferences/genomes/withMT/hs37d5.chr.fa nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 refactor_NDN_cigar_string=false fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false no_cmdline_in_header=false sites_only=false never_trim_vcf_format_field=false bcf=false bam_compression=null simplifyBAM=false disable_bam_indexing=false generate_md5=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false input=[(RodBinding name=input source=/dlmp/sandbox/runs/WESTA/HBFT7ADXX_verification_run/trio/OUTPUT/PI/exome/HBFT7ADXX_verification_run/variants/variants.vcf.gz.INDEL.vcf.gz)] recal_file=(RodBinding name=recal_file source=/dlmp/sandbox/runs/WESTA/HBFT7ADXX_verification_run/trio/OUTPUT/PI/exome/HBFT7ADXX_verification_run/variants/variants.vcf.gz.INDEL.vcf.recal.vcf) tranches_file=/dlmp/sandbox/runs/WESTA/HBFT7ADXX_verification_run/trio/OUTPUT/PI/exome/HBFT7ADXX_verification_run/variants/variants.vcf.gz.INDEL.vcf.tranches out=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub ts_filter_level=99.0 lodCutoff=null ignore_filter=null ignore_all_filters=false excludeFiltered=false mode=INDEL filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
##GATKCommandLine=<ID=SelectVariants,Version=3.3-0-g37228af,Date="Tue Apr 28 22:25:47 CDT 2015",Epoch=1430277947903,CommandLineOptions="analysis_type=SelectVariants input_file=[] showFullBamList=false read_buffer_size=null phone_home=NO_ET gatk_key=/biotools/biotools/gatk/current/volety.rama_mayo.edu.key tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/dlmp/misc-data/reference/ggpsReferences/genomes/withMT/hs37d5.chr.fa nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 refactor_NDN_cigar_string=false fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false no_cmdline_in_header=false sites_only=false never_trim_vcf_format_field=false bcf=false bam_compression=null simplifyBAM=false disable_bam_indexing=false generate_md5=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false variant=(RodBinding name=variant source=/dlmp/sandbox/runs/WESTA/HBFT7ADXX_verification_run/trio/OUTPUT/PI/exome/HBFT7ADXX_verification_run/.tmp/annotation/.24522/variants.phased.vcf) discordance=(RodBinding name= source=UNBOUND) concordance=(RodBinding name= source=UNBOUND) out=org.broadinstitute.gatk.engine.io.stubs.VariantContextWriterStub sample_name=[] sample_expressions=null sample_file=null exclude_sample_name=[] exclude_sample_file=[/dlmp/sandbox/runs/WESTA/HBFT7ADXX_verification_run/trio/OUTPUT/PI/exome/HBFT7ADXX_verification_run/.tmp/annotation/.24522/exclude_samples.txt] select_expressions=[] excludeNonVariants=true excludeFiltered=false restrictAllelesTo=ALL keepOriginalAC=false mendelianViolation=false mendelianViolationQualThreshold=0.0 select_random_fraction=0.0 remove_fraction_genotypes=0.0 selectTypeToInclude=[] keepIDs=null fullyDecode=false forceGenotypesDecode=false justRead=false maxIndelSize=2147483647 ALLOW_NONOVERLAPPING_COMMAND_LINE_SAMPLES=false filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
##INFO=<ID=ACMG_genes.name,Number=1,Type=String,Description="Gene name of ACMG Gene">
##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed">
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
##INFO=<ID=Clinvar.ClinicalSignificance,Number=.,Type=String,Description="comma-separated list of values of clinical significance reported for this variation">
##INFO=<ID=Clinvar.Guidelines,Number=.,Type=String,Description="ACMG only right now">
##INFO=<ID=Clinvar.PhenotypeIDs,Number=.,Type=String,Description="list of db names and identifiers for phenotype(s) reported for this variant">
##INFO=<ID=Clinvar.RCVaccession,Number=.,Type=String,Description="list of RCV accessions that report this variant">
##INFO=<ID=Clinvar.ReviewStatus,Number=.,Type=String,Description="highest review status for reporting this measure. For the key to the terms">
##INFO=<ID=CompoundHetEffects,Number=.,Type=String,Description="Types of variants causing the compoundHet">
##INFO=<ID=CompoundHet,Number=0,Type=Flag,Description="Identified as heterozygous from mom and dad while considering phase">
##INFO=<ID=cosmic68.Histology_subtype,Number=1,Type=String,Description="Further histological classifications of the sample">
##INFO=<ID=culprit,Number=1,Type=String,Description="The annotation which was the worst performing in the Gaussian mixture model, likely the reason why the variant was filtered out">
##INFO=<ID=dbNSFPv2.8.FathmmPred,Number=1,Type=String,Description="If a FATHMMori score is <=-1.5 (or rankscore <=0.81415) the corresponding NS  is predicted as \"D(AMAGING)\"; otherwise it is predicted as \"T(OLERATED)\". Multiple predictions separated by \";\"">
##INFO=<ID=dbNSFPv2.8.MetalrPred,Number=1,Type=String,Description="Prediction of our MetaLR based ensemble prediction score,\"T(olerated)\"or  \"D(amaging)\". The score cutoff between \"D\"and \"T\"is 0.5. The rankscore cutoff between  \"D\"and \"T\"is 0.82268.">
##INFO=<ID=dbNSFPv2.8.MetasvmPred,Number=1,Type=String,Description="Prediction of our SVM based ensemble prediction score,\"T(olerated)\"or  \"D(amaging)\". The score cutoff between \"D\"and \"T\"is 0. The rankscore cutoff between \"D\"and \"T\"is 0.83357.">
##INFO=<ID=dbNSFPv2.8.MutationassessorPred,Number=1,Type=String,Description="MutationAssessor's functional impact of a variant predicted functional, i.e. high (\"H\") or medium (\"M\"), or predicted non-functional, i.e. low (\"L\") or neutral (\"N\"). The MAori score cutoffs between \"H\"and \"M\",  \"M\"and \"L\", and \"L\"and \"N\", are 3.5, 1.9 and 0.8, respectively. The rankscore cutoffs  between \"H\"and \"M\", \"M\"and \"L\", and \"L\"and \"N\", are 0.9416, 0.61387 and 0.26162,  respectively.">
##INFO=<ID=dbNSFPv2.8.MutationtasterPred,Number=1,Type=String,Description="MutationTaster prediction, \"A\"(\"disease_causing_automatic\"), \"D\"(\"disease_causing\"), \"N\"(\"polymorphism\") or \"P\"(\"polymorphism_automatic\"). The  score cutoff between \"D\"and \"N\"is 0.5 for MTori and 0.328 for the rankscore.">
##INFO=<ID=dbNSFPv2.8.Polyphen2HdivPred,Number=1,Type=String,Description="Polyphen2 prediction based on HumDiv, \"D\"(\"porobably damaging\",  HDIV score in [0.957,1] or rankscore in [0.52996,0.89917]), \"P\"(\"possibly damaging\",  HDIV score in [0.453,0.956] or rankscore in [0.34412,0.52842]) and \"B\"(\"benign\",  HDIV score in [0,0.452] or rankscore in [0.02656,0.34399]). Score cutoff for binary  classification is 0.5 for HDIV score or 0.35411 for rankscore, i.e. the prediction is  \"neutral\"if the HDIV score is smaller than 0.5 (rankscore is smaller than 0.35411),  and \"deleterious\"if the HDIV score is larger than 0.5 (rankscore is larger than  0.35411). Multiple entries are separated by \";\".">
##INFO=<ID=dbNSFPv2.8.SiftPred,Number=1,Type=String,Description="If SIFTori is smaller than 0.05 (rankscore>0.55) the corresponding NS is  predicted as \"D(amaging)\"; otherwise it is predicted as \"T(olerated)\".  Multiple predictions separated by \";\"">
##INFO=<ID=dbSNP139.ID,Number=.,Type=String,Description="Semi-colon separated list of unique identifiers.  If this is a dbSNP variant, the rs number(s) should be used.  (VCF field)">
##INFO=<ID=DBSNP,Number=.,Type=String,Description="rsID from dbSNP">
##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered">
##INFO=<ID=EFF,Number=.,Type=String,Description="Predicted effects for this variant.Format: 'Effect | Effect_Impact | Functional_Class | Codon_Change | Amino_Acid_Change| Amino_Acid_length | Gene_Name | Transcript_BioType | Gene_Coding | Transcript_ID | Exon_Rank  | Genotype_Number [ | ERRORS | WARNINGS ] '">
##INFO=<ID=ExAC.Info.AC_Het,Number=1,Type=Integer,Description="Adjusted Heterozygous Count (AC_Het)">
##INFO=<ID=ExAC.Info.AC_Hom,Number=1,Type=Integer,Description="Adjusted Homozygous Count">
##INFO=<ID=ExAC.Info.AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
##INFO=<ID=ExAC.Info.AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed">
##INFO=<ID=ExAC.Info.AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
##INFO=<ID=ExperienceDB.ASSAY,Number=1,Type=String,Description="MayoExperienceDataBase">
##INFO=<ID=ExperienceDB.CLASS,Number=1,Type=String,Description="MayoExperienceDataBase">
##INFO=<ID=ExperienceDB.NOTES,Number=1,Type=String,Description="MayoExperienceDataBase">
##INFO=<ID=ExperienceDB.Submitter,Number=1,Type=String,Description="MayoExperienceDataBase">
##INFO=<ID=hgmd_2014.2.CLASS,Number=1,Type=String,Description="CLASS. This field categorizes mutations and polymorphisms. There are seven possible values, DM, DM?, DP, DFP, FP, FTV and R. Details here -> http://bsiweb.mayo.edu/catalog/hgmd">
##INFO=<ID=hgmd_2014.2.OMIM_ID,Number=1,Type=String,Description="Identifier for the OMIM database, http://www.ncbi.nlm.nih.gov/omim.">
##INFO=<ID=hgmd_2014.2.PHEN,Number=1,Type=String,Description="The name for the disease or condition associated with the mutation. If the curator had some reservations about the adequacy of the evidence supporting the relationship to the disease, this name is followed by a question mark. Disease names are provided as reported in the literature.">
##INFO=<ID=hgmd_2014.2.PubMed,Number=1,Type=String,Description="Numeric PUBMED id for the reference in PubMed.">
##INFO=<ID=InGeneList,Number=0,Type=Flag,Description="Is this gene in your target gene list">
##INFO=<ID=InheritancePattern,Number=1,Type=String,Description="AR: autosomal recessive; AD: autosomal dominant; denovo: not in either parent; XLD: x-linked dominant; XLR-x-linked recessive; YL: y-linked; UPD: uniparental disomy; Normal & NotInChild: not important for the phenotype; NonMendelian,DiploidX,DiploidY,MomHasY all indicate issues of quality; CompundHet: based on phase with one allele from each parent">
##INFO=<ID=Link_Clinvar,Number=1,Type=String,Description="Performs a clinvar search of the CLINVAR terms">
##INFO=<ID=Link_dbSNP,Number=1,Type=String,Description="Hyperlink to dbSNP">
##INFO=<ID=Link_GeneCards,Number=1,Type=String,Description="Hyperlink to Genecards">
##INFO=<ID=Link_GoogleSearch,Number=1,Type=String,Description="Performs a google search of the HGVS nomenclature">
##INFO=<ID=Link_IGV,Number=1,Type=String,Description="If IGV is open, this will take you to that locus">
##INFO=<ID=Link_Pubmed,Number=1,Type=String,Description="Takes you to pubmed entries used for HGMD classfication">
##INFO=<ID=LOF,Number=.,Type=String,Description="Predicted loss of function effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected'">
##INFO=<ID=MQ0,Number=1,Type=Integer,Description="Total Mapping Quality Zero Reads">
##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS Mapping Quality">
##INFO=<ID=NA12878i_GT,Number=1,Type=String,Description="Child Genotype">
##INFO=<ID=NA12891_GT,Number=1,Type=String,Description="Dad Genotype">
##INFO=<ID=NA12892_GT,Number=1,Type=String,Description="Mom Genotype">
##INFO=<ID=NMD,Number=.,Type=String,Description="Predicted nonsense mediated decay effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected'">
##INFO=<ID=OMIM_phenotypes.name,Number=1,Type=String,Description="OMIM_phenotypes">
##INFO=<ID=PGx_variants.name,Number=1,Type=String,Description="Denotes whether the region is in the PGx target list">
##INFO=<ID=SAVANT_ALTANN,Number=.,Type=String,Description="None: variant has the same HGVS annotation regardless of its , left or right-alignment, HGVSNotClass: indel has an alternative HGVS but the same CLASS. HGVSAndClass: Multiple HGVS with different functional consequences.">
##INFO=<ID=SAVANT_ALTCLASS,Number=.,Type=String,Description="Alternate CLASS variable">
##INFO=<ID=SAVANT_ALTHGVS,Number=.,Type=String,Description="Alternate HGVS Nomenclature">
##INFO=<ID=SAVANT_CLASS,Number=.,Type=String,Description="5PU: Variant in 5. untranslated region, 3PU: Variant in 3. untranslated region, INTR: Intronic variant that does not alter splice site bases, SS:  Intronic variant that alters a splice site base at -12 to +12 but not an ESS or , SS5 base10, ESS: Variant that alters essential splice site base (+1,+2,-1,-2), SS5: Variant that alters the +5 splice site base, but not an ESS base, SC: Synonymous change caused by a base substitution (i.e. does not alter amino , acid), NSC:  Nonsynonymous  change (missense)  caused  by  a  base  substitution (i.e. , alters amino acid), IF:  In-frame  insertion  and/or  deletion  (variant  alters  the  length  of  coding , sequence but not the frame), IM: Variant that alters the start codon, SG: Variant resulting in stop-gain (nonsense) mutation, SL: Variant resulting in stop-loss mutation, FC: Frameshifting insertion and/or deletion (variant alters the length and frame , of coding sequence), SCI: Synonymous change caused by a complex indel  that does not alter protein , length or amino acid, NCI:  Nonsynonymous  change  caused  by  a  complex  indel  that  does  not  alter , protein length but does change amino acid, SCSS:  Synonymous  coding  variant that  alters the  first  or last  three  bases  of  an , exon and may affect splicing (except the  first and last  three bases of  the whole , coding sequence)., NSCSS: Nonsynonymous coding variant that alters the first or last three bases of , an exon and may affect splicing (except the first and last three bases of the whole , coding sequence)., SCISS: Synonymous change by a complex indel that alters  the  first or last  three , bases of an exon. It does not change protein length or amino acid, but may affect , splicing (except the first and last three bases of the whole coding sequence)., NCISS: Nonsynonymous  change  by  a  complex  indel  that  alters  the  first  or  last , three  bases  of  an  exon. It  does  not  change  protein  length  but  does  change  an , amino acid and may affect  splicing (except  the  first and last  three  bases  of  the , whole coding sequence)., IFSS:  In-frame coding variant  that alters the  first or last  three bases of an exon , and may affect splicing (except the first and last three bases of the whole coding , sequence).">
##INFO=<ID=SAVANT_EFFECT,Number=1,Type=String,Description="SAVANT_EFFECT">
##INFO=<ID=SAVANT_ENST,Number=.,Type=String,Description="Ensembl transcript identifier">
##INFO=<ID=SAVANT_GENE,Number=.,Type=String,Description="Ensembl gene identifier">
##INFO=<ID=SAVANT_HGVS,Number=.,Type=String,Description="HGVS Nomenclature">
##INFO=<ID=SAVANT_IMPACT,Number=1,Type=String,Description="SAVANT_IMPACT">
##INFO=<ID=SAVANT_INFO,Number=.,Type=String,Description="strand/sequencelength/Exons/coding region size">
##INFO=<ID=SAVANT_LOC,Number=.,Type=String,Description="Exon number">
##INFO=<ID=snpeff.Amino_Acid_Change,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.Amino_Acid_length,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.Codon_Change,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.Effect_Impact,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.Effect,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.ERRORS,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.Exon_Rank,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.Functional_Class,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.Gene_Coding,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.Gene_Name,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.Genotype_Number,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.Transcript_BioType,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.Transcript_ID,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=snpeff.WARNINGS,Number=1,Type=String,Description="Annotation from SNPEFF">
##INFO=<ID=TYPE,Number=.,Type=String,Description="SNP or Indel">
##reference=file:///dlmp/misc-data/reference/ggpsReferences/genomes/withMT/hs37d5.chr.fa
##SnpEffCmd="SnpEff  -noStats -hgvs -lof GRCh37.74 variants.phased.trio.vcf000.anno"
##SnpEffVersion="4.0e (build 2014-09-13), by Pablo Cingolani"
##source=PhaseByTransmission
##source=SelectVariants
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	NA12878i	NA12891	NA12892
1	65872	.	T	G	44.18	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=47;MQ=30.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65872">View</a>	GT:AD:DP:GQ:PL:TP	0|0:15,0:15:45:0,45,520:18	0|1:14,2:16:21:21,0,439:18	0|1:14,2:16:21:21,0,437:18
1	69511	.	A	G	2552.93	PASS	InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=39;MQ=47.54;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=./.;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75062661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75062661" target="_blank">rs75062661</a>;ExAC.Info.AC=78712;ExAC.Info.AN=87920;ExAC.Info.AF=0.895;ExAC.Info.AC_Het=1847;ExAC.Info.AC_Hom=36975;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421A>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4F5" target="_blank">OR4F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335137;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421A>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4F5" target="_blank">OR4F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335137;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr141Ala/c.421A>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4F5" target="_blank">OR4F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335137;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335137;SAVANT_GENE=OR4F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4F5" target="_blank">OR4F5</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.421A>G_p.Thr141Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4F5+c.421A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:69511">View</a>	GT:AD:DP:GQ:PL	./.	./.	1|1:0,39:39:99:1289,117,0
1	762273	.	G	A	19085.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=217;MQ=50.61;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3115849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3115849" target="_blank">rs3115849</a>;ExAC.Info.AC=13555;ExAC.Info.AN=18142;ExAC.Info.AF=0.747;ExAC.Info.AC_Het=2444;ExAC.Info.AC_Hom=5267;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.630C>T;snpeff.Gene_Name=LINC00115;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00115" target="_blank">LINC00115</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000473798;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00115" target="_blank">LINC00115</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=LINC00115+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:762273">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2510,202,0:127	1|1:0,82:82:99:2952,247,0:127	1|1:0,68:68:99:2485,204,0:127
1	866511	.	C	CCCCT	3136.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=35;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.305+43_305+44insCCCT;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=SAMD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD11" target="_blank">SAMD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342066;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000342066;SAVANT_GENE=SAMD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD11" target="_blank">SAMD11</a>;SAVANT_INFO=+/18.8kb/14/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.305+54_305+57dupTCCC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAMD11+c.305+54_305+57dupTCCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:866511">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,13:13:38:583,38,0:26	1|1:0,13:13:37:512,37,0:26	1|1:0,9:9:27:402,27,0:26
1	876499	.	A	G	3338.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=38;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4372192;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4372192" target="_blank">rs4372192</a>;ExAC.Info.AC=110261;ExAC.Info.AN=119812;ExAC.Info.AF=0.920;ExAC.Info.AC_Het=4200;ExAC.Info.AC_Hom=26030;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.707-25A>G;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=SAMD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD11" target="_blank">SAMD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342066;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342066;SAVANT_GENE=SAMD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD11" target="_blank">SAMD11</a>;SAVANT_INFO=+/18.8kb/14/2.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.707-25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAMD11+c.707-25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:876499">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:465,36,0:26	1|1:0,17:17:51:645,51,0:26	1|1:0,9:9:27:355,27,0:26
1	877715	.	C	G	1860.03	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=21;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6605066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6605066" target="_blank">rs6605066</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.986-75C>G;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=SAMD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD11" target="_blank">SAMD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342066;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342066;SAVANT_GENE=SAMD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD11" target="_blank">SAMD11</a>;SAVANT_INFO=+/18.8kb/14/2.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.986-75C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAMD11+c.986-75C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:877715">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,9:9:27:327,27,0:11	1|1:0,8:8:24:326,24,0:11	1|1:0,4:4:12:133,12,0:11
1	877831	.	T	C	2712.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=36;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6672356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6672356" target="_blank">rs6672356</a>;ExAC.Info.AC=76165;ExAC.Info.AN=76206;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=8429;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp343Arg/c.1027T>C;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=SAMD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD11" target="_blank">SAMD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342066;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342066;SAVANT_GENE=SAMD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD11" target="_blank">SAMD11</a>;SAVANT_INFO=+/18.8kb/14/2.6kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1027T>C_p.Trp343Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAMD11+c.1027T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:877831">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:405,36,0:26	1|1:0,15:15:45:498,45,0:26	1|1:0,9:9:27:297,27,0:26
1	880238	.	A	G	27743.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3748592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748592" target="_blank">rs3748592</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2144-58T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327044;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2144A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327044;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2144A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327044;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2144A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327044;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327044;SAVANT_GENE=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;SAVANT_INFO=-/15.1kb/19/2.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2144-58T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOC2L+c.2144-58T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:880238">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:3881,351,0:127	1|1:0,109:109:99:3982,327,0:127	1|1:0,100:100:99:3410,300,0:127
1	881627	.	G	A	9336.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2272757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272757" target="_blank">rs2272757</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=71589;ExAC.Info.AN=126634;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=28415;ExAC.Info.AC_Hom=21273;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu615Leu/c.1843C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327044;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327044;SAVANT_GENE=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;SAVANT_INFO=-/15.1kb/19/2.8kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1843C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOC2L+c.1843C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:881627">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:935,81,0:80	1|1:0,40:40:99:1310,120,0:80	1|1:0,27:27:81:1017,81,0:80
1	883625	.	A	G	9947.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4970378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4970378" target="_blank">rs4970378</a>;ExAC.Info.AC=120164;ExAC.Info.AN=120240;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=25817;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1558-13T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327044;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327044;SAVANT_GENE=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;SAVANT_INFO=-/15.1kb/19/2.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1558-13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOC2L+c.1558-13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:883625">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1321,108,0:122	1|1:0,41:41:99:1415,123,0:122	1|1:0,44:44:99:1421,132,0:122
1	887560	.	A	C	30182.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3748595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748595" target="_blank">rs3748595</a>;ExAC.Info.AC=116747;ExAC.Info.AN=126426;ExAC.Info.AF=0.923;ExAC.Info.AC_Het=8509;ExAC.Info.AC_Hom=52572;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1192-41T>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327044;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327044;SAVANT_GENE=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;SAVANT_INFO=-/15.1kb/19/2.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1192-41T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOC2L+c.1192-41T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:887560">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3794,324,0:127	1|1:0,136:136:99:4626,408,0:127	1|1:0,114:114:99:3841,342,0:127
1	887801	.	A	G	11164.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=124;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3828047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3828047" target="_blank">rs3828047</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=118432;ExAC.Info.AN=126580;ExAC.Info.AF=0.936;ExAC.Info.AC_Het=7513;ExAC.Info.AC_Hom=54771;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr394Thr/c.1182T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327044;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327044;SAVANT_GENE=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;SAVANT_INFO=-/15.1kb/19/2.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1182T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOC2L+c.1182T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:887801">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1777,144,0:110	1|1:0,39:39:99:1461,117,0:110	1|1:0,37:37:99:1386,111,0:110
1	888639	.	T	C	35730.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=319;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3748596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748596" target="_blank">rs3748596</a>;ExAC.Info.AC=118388;ExAC.Info.AN=126512;ExAC.Info.AF=0.936;ExAC.Info.AC_Het=7509;ExAC.Info.AC_Hom=54768;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu306Glu/c.918A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327044;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327044;SAVANT_GENE=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;SAVANT_INFO=-/15.1kb/19/2.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.918A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOC2L+c.918A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:888639">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:4169,295,0:127	1|1:0,126:126:99:5481,382,0:127	1|1:0,97:97:99:4342,301,0:127
1	888659	.	T	C	36656.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=331;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748597;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748597" target="_blank">rs3748597</a>;ExAC.Info.AC=118295;ExAC.Info.AN=126454;ExAC.Info.AF=0.935;ExAC.Info.AC_Het=7488;ExAC.Info.AC_Hom=54444;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile300Val/c.898A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327044;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327044;SAVANT_GENE=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;SAVANT_INFO=-/15.1kb/19/2.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.898A>G_p.Ile300Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOC2L+c.898A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:888659">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,99:99:99:4221,301,0:127	1|1:0,133:133:99:5713,402,0:127	1|1:0,99:99:99:4343,304,0:127
1	894573	.	G	A	17391.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs13303010;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13303010" target="_blank">rs13303010</a>;ExAC.Info.AC=99873;ExAC.Info.AN=123502;ExAC.Info.AF=0.809;ExAC.Info.AC_Het=14172;ExAC.Info.AC_Hom=39955;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.26+22C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327044;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327044;SAVANT_GENE=NOC2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC2L" target="_blank">NOC2L</a>;SAVANT_INFO=-/15.1kb/19/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.26+22C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOC2L+c.26+22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:894573">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2251,195,0:127	1|1:0,76:76:99:2847,229,0:127	1|1:0,52:52:99:1903,156,0:127
1	897325	.	G	C	41098.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=504;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4970441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4970441" target="_blank">rs4970441</a>;ExAC.Info.AC=114154;ExAC.Info.AN=125822;ExAC.Info.AF=0.907;ExAC.Info.AC_Het=9903;ExAC.Info.AC_Hom=51252;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609G>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609G>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609G>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcC;snpeff.Amino_Acid_Change=p.Ala203Ala/c.609G>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338591;SAVANT_GENE=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;SAVANT_INFO=+/5.1kb/12/2.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.609G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHL17+c.609G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:897325">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,174:174:99:5910,522,0:127	1|1:0,201:201:99:7045,603,0:127	1|1:0,129:129:99:4284,387,0:127
1	897460	.	A	C	1020.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.711+33A>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.712A>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.712A>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.712A>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338591;SAVANT_GENE=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;SAVANT_INFO=+/5.1kb/12/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.711+33A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHL17+c.711+33A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:897460">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,19:63:99:245,0,2305:104	0/1:48,13:61:99:105,0,2521:104	0/1:33,15:48:99:215,0,1681:104
1	897465	.	A	C	961.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=129;ExAC.Info.AN=113094;ExAC.Info.AF=1.141e-03;ExAC.Info.AC_Het=120;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.711+38A>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.712A>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.712A>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.712A>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338591;SAVANT_GENE=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;SAVANT_INFO=+/5.1kb/12/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.711+38A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHL17+c.711+38A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:897465">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,13:60:99:201,0,2361:108	0/1:47,12:59:99:108,0,2481:108	0/1:36,14:50:99:209,0,1729:108
1	897564	.	T	C	35312.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=423;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs13303229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13303229" target="_blank">rs13303229</a>;ExAC.Info.AC=83890;ExAC.Info.AN=93298;ExAC.Info.AF=0.899;ExAC.Info.AC_Het=1732;ExAC.Info.AC_Hom=9302;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.711+137T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.712T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.712T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.712T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338591;SAVANT_GENE=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;SAVANT_INFO=+/5.1kb/12/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.711+137T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHL17+c.711+137T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:897564">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,147:147:99:4809,441,0:127	1|1:0,148:148:99:5071,445,0:127	1|1:0,128:128:99:4548,385,0:127
1	898323	.	T	C	10415.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6605071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6605071" target="_blank">rs6605071</a>;ExAC.Info.AC=112159;ExAC.Info.AN=120398;ExAC.Info.AF=0.932;ExAC.Info.AC_Het=4660;ExAC.Info.AC_Hom=36714;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1042+26T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Kelch_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1043T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Kelch_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1043T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_F-actin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1043T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_F-actin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1043T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_F-actin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1043T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_F-actin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1043T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_F-actin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1043T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_F-actin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1043T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_F-actin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1043T>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338591;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338591;SAVANT_GENE=KLHL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL17" target="_blank">KLHL17</a>;SAVANT_INFO=+/5.1kb/12/2.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1042+26T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHL17+c.1042+26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:898323">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1380,111,0:92	1|1:0,49:49:99:1877,147,0:92	1|1:0,31:31:93:1175,93,0:92
1	907631	.	A	C	1929.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1022-37A>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PLEKHN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHN1" target="_blank">PLEKHN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379409;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1022A>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PLEKHN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHN1" target="_blank">PLEKHN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379409;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1022A>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PLEKHN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHN1" target="_blank">PLEKHN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379409;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1022A>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PLEKHN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHN1" target="_blank">PLEKHN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379409;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1022A>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PLEKHN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHN1" target="_blank">PLEKHN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379409;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379410;SAVANT_GENE=PLEKHN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHN1" target="_blank">PLEKHN1</a>;SAVANT_INFO=+/8.6kb/16/2.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.866-37A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHN1+c.866-37A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:907631">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,22:52:99:282,0,716:127	0/1:50,30:80:99:230,0,1247:127	0/1:42,32:74:99:440,0,823:127
1	909419	.	C	T	3300.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs28548431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28548431" target="_blank">rs28548431</a>;ExAC.Info.AC=17677;ExAC.Info.AN=120366;ExAC.Info.AF=0.147;ExAC.Info.AC_Het=10172;ExAC.Info.AC_Hom=1182;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp599Asp/c.1797C>T;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PLEKHN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHN1" target="_blank">PLEKHN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379409;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379410;SAVANT_GENE=PLEKHN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHN1" target="_blank">PLEKHN1</a>;SAVANT_INFO=+/8.6kb/16/2.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1641C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHN1+c.1641C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:909419">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,8:35:99:203,0,691:127	0/1:14,15:29:99:419,0,392:127	0/1:10,17:27:99:549,0,231:127
1	909768	.	A	G	22587.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2340593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2340593" target="_blank">rs2340593</a>;ExAC.Info.AC=126172;ExAC.Info.AN=126184;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=7;ExAC.Info.AC_Hom=62199;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1858+24A>G;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PLEKHN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHN1" target="_blank">PLEKHN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379409;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379410;SAVANT_GENE=PLEKHN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHN1" target="_blank">PLEKHN1</a>;SAVANT_INFO=+/8.6kb/16/2.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1702+24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHN1+c.1702+24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:909768">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2500,225,0:127	1|1:0,94:94:99:3142,282,0:127	1|1:0,76:76:99:2696,228,0:127
1	911595	.	A	G	13019.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7417106;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7417106" target="_blank">rs7417106</a>;ExAC.Info.AC=12731;ExAC.Info.AN=18070;ExAC.Info.AF=0.705;ExAC.Info.AC_Het=2468;ExAC.Info.AC_Hom=4145;snpeff.Effect=TF_binding_site_variant[MA0139.1:CTCF];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val683Ala/c.2048T>C;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433179;SAVANT_GENE=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;SAVANT_INFO=-/6.9kb/5/3.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2048T>C_p.Val683Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf170+c.2048T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:911595">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1571,147,0:127	1|1:0,61:61:99:1832,183,0:127	1|1:0,51:51:99:1670,153,0:127
1	912049	.	T	C	2757.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=78;MQ=69.09;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9803103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9803103" target="_blank">rs9803103</a>;ExAC.Info.AC=10463;ExAC.Info.AN=21298;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=3458;ExAC.Info.AC_Hom=2567;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1868-45A>G;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433179;SAVANT_GENE=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;SAVANT_INFO=-/6.9kb/5/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1868-45A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf170+c.1868-45A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:912049">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,8:23:99:243,0,517:127	0/1:16,17:33:99:465,0,532:127	0/1:13,9:22:99:205,0,455:127
1	914333	.	C	G	3646.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13302979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13302979" target="_blank">rs13302979</a>;ExAC.Info.AC=9084;ExAC.Info.AN=16910;ExAC.Info.AF=0.537;ExAC.Info.AC_Het=1797;ExAC.Info.AC_Hom=1540;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Cag;snpeff.Amino_Acid_Change=p.Glu599Gln/c.1795G>C;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433179;SAVANT_GENE=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;SAVANT_INFO=-/6.9kb/5/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1795G>C_p.Glu599Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf170+c.1795G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:914333">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,19:33:99:594,0,433:127	0/1:26,24:50:99:730,0,803:127	0/1:14,12:26:99:354,0,401:127
1	914414	.	CGAA	C	6803.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=1;ExAC.Info.AN=20968;ExAC.Info.AF=4.769e-05;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ttc/;snpeff.Amino_Acid_Change=p.Phe571del/c.1711_1713delTTC;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000433179;SAVANT_GENE=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;SAVANT_INFO=-/6.9kb/5/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1711_1713delTTC_p.Phe571del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf170+c.1711_1713delTTC+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:914414">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,19:56:99:687,0,1496:127	1|0:45,46:91:99:1763,0,1750:127	0|0:54,0:54:99:0,162,2430:127
1	914852	.	G	C	8061.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13303368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13303368" target="_blank">rs13303368</a>;ExAC.Info.AC=9942;ExAC.Info.AN=18842;ExAC.Info.AF=0.528;ExAC.Info.AC_Het=3383;ExAC.Info.AC_Hom=2632;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln426Glu/c.1276C>G;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433179;SAVANT_GENE=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;SAVANT_INFO=-/6.9kb/5/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1276C>G_p.Gln426Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf170+c.1276C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:914852">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,41:75:99:1278,0,1045:127	0/1:25,29:54:99:970,0,839:127	0/1:37,34:71:99:960,0,1245:127
1	914876	.	T	C	25409.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13302983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13302983" target="_blank">rs13302983</a>;ExAC.Info.AC=17086;ExAC.Info.AN=17912;ExAC.Info.AF=0.954;ExAC.Info.AC_Het=479;ExAC.Info.AC_Hom=7048;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser418Gly/c.1252A>G;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433179;SAVANT_GENE=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;SAVANT_INFO=-/6.9kb/5/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1252A>G_p.Ser418Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf170+c.1252A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:914876">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3811,295,0:127	1|1:0,72:72:99:2657,216,0:127	1|1:0,88:88:99:3325,264,0:127
1	914940	.	T	C	13121.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs13303033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13303033" target="_blank">rs13303033</a>;ExAC.Info.AC=10139;ExAC.Info.AN=19438;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=3589;ExAC.Info.AC_Hom=2670;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala396Ala/c.1188A>G;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433179;SAVANT_GENE=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;SAVANT_INFO=-/6.9kb/5/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1188A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf170+c.1188A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:914940">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,68:126:99:2089,0,1445:127	0/1:48,67:115:99:1952,0,1261:127	0/1:73,51:124:99:1455,0,1859:127
1	915227	.	A	G	18359.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs13303355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13303355" target="_blank">rs13303355</a>;ExAC.Info.AC=19476;ExAC.Info.AN=20616;ExAC.Info.AF=0.945;ExAC.Info.AC_Het=695;ExAC.Info.AC_Hom=8028;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu301Leu/c.901T>C;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433179;SAVANT_GENE=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;SAVANT_INFO=-/6.9kb/5/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.901T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf170+c.901T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:915227">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2582,207,0:127	1|1:0,73:73:99:2743,219,0:127	1|1:0,56:56:99:1968,168,0:127
1	916549	.	A	G	10173.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6660139;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6660139" target="_blank">rs6660139</a>;ExAC.Info.AC=14005;ExAC.Info.AN=19316;ExAC.Info.AF=0.725;ExAC.Info.AC_Het=2608;ExAC.Info.AC_Hom=4860;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58A>G;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58A>G;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58A>G;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp20Arg/c.58T>C;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433179;SAVANT_GENE=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;SAVANT_INFO=-/6.9kb/5/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.58T>C_p.Trp20Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf170+c.58T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:916549">View</a>	GT:AD:DP:GQ:PL:TP	0/1:61,45:106:99:1268,0,1679:127	0/1:78,69:147:99:1931,0,2361:127	0/1:44,25:69:99:739,0,1463:127
1	916590	.	G	A	15738.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs28566954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28566954" target="_blank">rs28566954</a>;ExAC.Info.AC=2212;ExAC.Info.AN=21562;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=1604;ExAC.Info.AC_Hom=144;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.54-37C>T;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.54G>A;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.54G>A;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.54G>A;snpeff.Amino_Acid_length=696;snpeff.Gene_Name=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433179;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433179;SAVANT_GENE=C1orf170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf170" target="_blank">C1orf170</a>;SAVANT_INFO=-/6.9kb/5/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.54-37C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf170+c.54-37C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:916590">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,66:129:99:1830,0,1581:127	0/1:91,86:177:99:2436,0,2478:127	0/1:51,58:109:99:1691,0,1311:127
1	935222	.	C	A	2938.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=74;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2298214;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298214" target="_blank">rs2298214</a>;ExAC.Info.AC=65776;ExAC.Info.AN=115238;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=19255;ExAC.Info.AC_Hom=16685;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agG/agT;snpeff.Amino_Acid_Change=p.Arg44Ser/c.132G>T;snpeff.Amino_Acid_length=247;snpeff.Gene_Name=HES4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HES4" target="_blank">HES4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428771;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428771;SAVANT_GENE=HES4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HES4" target="_blank">HES4</a>;SAVANT_INFO=-/1.2kb/3/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.132G>T_p.Arg44Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HES4+c.132G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:935222">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,12:25:99:350,0,393:127	0/1:16,17:33:99:547,0,539:127	0/1:7,9:16:99:230,0,173:127
1	948921	.	T	C	12901.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs15842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=15842" target="_blank">rs15842</a>;ExAC.Info.AC=119184;ExAC.Info.AN=126532;ExAC.Info.AF=0.942;ExAC.Info.AC_Het=6191;ExAC.Info.AC_Hom=55812;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=33;snpeff.Amino_Acid_Change=c.-33T>C;snpeff.Amino_Acid_length=165;snpeff.Gene_Name=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379389;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379389;SAVANT_GENE=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;SAVANT_INFO=+/1.1kb/2/0.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-33T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ISG15+c.-33T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:948921">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1470,123,0:110	1|1:0,65:65:99:2334,195,0:110	1|1:0,37:37:99:1303,111,0:110
1	948929	.	GGCCCACA	G	6392.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=156;ExAC.Info.AN=126612;ExAC.Info.AF=1.232e-03;ExAC.Info.AC_Het=193;ExAC.Info.AC_Hom=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=18;snpeff.Amino_Acid_Change=c.-24_-30delGCCCACA;snpeff.Amino_Acid_length=165;snpeff.Gene_Name=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379389;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000379389;SAVANT_GENE=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;SAVANT_INFO=+/1.1kb/2/0.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-7_-1del7;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ISG15+c.-7_-1del7+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:948929">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,21:40:99:788,0,714:114	1|0:28,34:62:99:1328,0,1064:114	0|0:38,0:38:99:0,114,1680:114
1	949608	.	G	A	11759.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1921" target="_blank">rs1921</a>;ExAC.Info.AC=46703;ExAC.Info.AN=126540;ExAC.Info.AF=0.369;ExAC.Info.AC_Het=28110;ExAC.Info.AC_Hom=9079;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.248G>A;snpeff.Amino_Acid_length=165;snpeff.Gene_Name=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379389;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ubiquitin-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.248G>A;snpeff.Amino_Acid_length=165;snpeff.Gene_Name=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379389;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser83Asn/c.248G>A;snpeff.Amino_Acid_length=165;snpeff.Gene_Name=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379389;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379389;SAVANT_GENE=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;SAVANT_INFO=+/1.1kb/2/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.248G>A_p.Ser83Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ISG15+c.248G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:949608">View</a>	GT:AD:DP:GQ:PL:TP	0/1:69,51:120:99:1248,0,2114:127	0/1:69,67:136:99:1875,0,1838:127	0/1:48,47:95:99:1196,0,1497:127
1	949654	.	A	G	29146.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs8997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8997" target="_blank">rs8997</a>;ExAC.Info.AC=115431;ExAC.Info.AN=126512;ExAC.Info.AF=0.912;ExAC.Info.AC_Het=8490;ExAC.Info.AC_Hom=52892;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=165;snpeff.Gene_Name=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379389;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ubiquitin-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=165;snpeff.Gene_Name=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379389;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val98Val/c.294A>G;snpeff.Amino_Acid_length=165;snpeff.Gene_Name=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379389;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379389;SAVANT_GENE=ISG15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISG15" target="_blank">ISG15</a>;SAVANT_INFO=+/1.1kb/2/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.294A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ISG15+c.294A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:949654">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4235,366,0:127	1|1:0,124:124:99:4423,373,0:127	1|1:0,83:83:99:3155,250,0:127
1	949925	.	C	T	11319.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2799070;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2799070" target="_blank">rs2799070</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2799070" target="_blank">rs2799070</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:949925">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1260,105,0:127	1|1:0,54:54:99:1864,162,0:127	1|1:0,45:45:99:1715,135,0:127
1	955597	.	G	T	306.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=50;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs115173026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115173026" target="_blank">rs115173026</a>;ExAC.Info.AC=4095;ExAC.Info.AN=17792;ExAC.Info.AF=0.230;ExAC.Info.AC_Het=1804;ExAC.Info.AC_Hom=476;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116272;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.45G>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccT;snpeff.Amino_Acid_Change=p.Pro15Pro/c.45G>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.45G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.45G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:955597">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116272" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:17,0:17:51:0,51,554:49	0|0:18,0:18:54:0,54,666:49	0|1:9,6:15:99:172,0,232:49
1	977330	.	T	C	12541.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=276;MQ=69.75;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs2799066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2799066" target="_blank">rs2799066</a>;ExAC.Info.AC=114440;ExAC.Info.AN=125072;ExAC.Info.AF=0.915;ExAC.Info.AC_Het=8690;ExAC.Info.AC_Hom=51144;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000116254;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1178-6T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1178T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1178-6T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.1178-6T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:977330">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116254" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:58,48:106:99:1462,0,1688:127	0|1:54,43:97:99:1306,0,1657:127	1|1:0,73:73:99:2765,220,0:127
1	978603	.	CCT	C	6709.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs35881187;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35881187" target="_blank">rs35881187</a>;ExAC.Info.AC=61167;ExAC.Info.AN=122902;ExAC.Info.AF=0.498;ExAC.Info.AC_Het=18373;ExAC.Info.AC_Hom=10993;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1385-15_1385-14delCT;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kazal-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1385_1386delCT;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kazal-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1385_1386delCT;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1385-15_1385-14delCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.1385-15_1385-14delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:978603">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,25:62:99:891,0,1536:127	0/1:22,27:49:99:1042,0,917:127	0/1:34,24:58:99:869,0,1466:127
1	978850	.	T	G	23.21	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=260;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);ExAC.Info.AC=4483;ExAC.Info.AN=123196;ExAC.Info.AF=0.036;ExAC.Info.AC_Het=3627;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1603+13T>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kazal-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1604T>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kazal-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1604T>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1603+13T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.1603+13T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:978850">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,12:83:50:0,50,4048:11	0|0:78,12:90:11:0,11,4319:11	0|1:73,14:87:30:30,0,4616:11
1	978852	.	A	G	23.21	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=258;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);ExAC.Info.AC=394;ExAC.Info.AN=124658;ExAC.Info.AF=3.161e-03;ExAC.Info.AC_Het=302;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1603+15A>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kazal-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1604A>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kazal-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1604A>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1603+15A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.1603+15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:978852">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,11:85:50:0,50,4048:11	0|0:78,11:89:11:0,11,4319:11	0|1:74,10:84:30:30,0,4616:11
1	980460	.	G	A	4215.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs3128097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3128097" target="_blank">rs3128097</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2255-81G>A;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kazal-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2255G>A;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kazal-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2255G>A;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kazal-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2255G>A;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2255-81G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.2255-81G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:980460">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,13:24:99:336,0,318:48	0|1:20,22:42:99:595,0,639:48	1|1:0,16:16:48:597,48,0:48
1	981087	.	A	G	18123.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=372;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs3128098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3128098" target="_blank">rs3128098</a>;ExAC.Info.AC=115396;ExAC.Info.AN=126390;ExAC.Info.AF=0.913;ExAC.Info.AC_Het=8947;ExAC.Info.AC_Hom=52422;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2537-26A>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2537A>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2537A>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2537-26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.2537-26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:981087">View</a>	GT:AD:DP:GQ:PL:TP	1|0:64,62:126:99:1829,0,1750:127	0|1:60,64:124:99:1977,0,1707:127	1|1:0,122:122:99:4228,367,0:127
1	981931	.	A	G	7248.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs2465128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2465128" target="_blank">rs2465128</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=108763;ExAC.Info.AN=124596;ExAC.Info.AF=0.873;ExAC.Info.AC_Het=11446;ExAC.Info.AC_Hom=46584;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser/Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3066A>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser/Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3066A>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser1022Ser/c.3066A>G;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.3066A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.3066A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:981931">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,28:68:99:790,0,1195:127	0|1:50,27:77:99:764,0,1665:127	1|1:0,43:43:99:1537,129,0:127
1	982941	.	T	C	22498.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs3128102;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3128102" target="_blank">rs3128102</a>;ExAC.Info.AC=111308;ExAC.Info.AN=125906;ExAC.Info.AF=0.884;ExAC.Info.AC_Het=10357;ExAC.Info.AC_Hom=49458;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3517-12T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3517T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3517T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3517T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3517T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3517T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.3517-12T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.3517-12T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:982941">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,77:159:99:2270,0,2230:127	0|1:100,85:185:99:2549,0,2921:127	1|1:0,134:134:99:5022,403,0:127
1	982994	.	T	C	26607.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=587;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs10267;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10267" target="_blank">rs10267</a>;ExAC.Info.AC=113480;ExAC.Info.AN=126264;ExAC.Info.AF=0.899;ExAC.Info.AC_Het=9672;ExAC.Info.AC_Hom=51117;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000116264;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3558T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3558T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3558T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3558T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3558T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe1186Phe/c.3558T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.3558T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.3558T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:982994">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116264" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:97,94:191:99:2723,0,2690:127	0|1:116,114:230:99:3313,0,3190:127	1|1:0,166:166:99:6033,499,0:127
1	984302	.	T	C	3969.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs9442391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9442391" target="_blank">rs9442391</a>;ExAC.Info.AC=57156;ExAC.Info.AN=113888;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=9091;ExAC.Info.AC_Hom=6477;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4161T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4161T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4161T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr1387Thr/c.4161T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.4161T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.4161T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:984302">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,10:34:99:275,0,716:127	0/1:17,29:46:99:896,0,504:127	0/1:13,14:27:99:357,0,443:127
1	985266	.	C	T	8753.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs2275813;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275813" target="_blank">rs2275813</a>;ExAC.Info.AC=66036;ExAC.Info.AN=123616;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=26700;ExAC.Info.AC_Hom=18579;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4745-17C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4745C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4745C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4745C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4745C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.4745-17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.4745-17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:985266">View</a>	GT:AD:DP:GQ:PL:TP	0/1:60,52:112:99:1438,0,1614:127	0/1:82,42:124:99:1200,0,2284:127	0/1:61,37:98:99:979,0,1724:127
1	985443	.	AG	A	97.72	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=40;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs374942603;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374942603" target="_blank">rs374942603</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4879+27delG;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.4879+41delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.4879+41delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:985443">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:27:0,27,356:26	0|0:16,0:16:48:0,48,618:26	0|1:11,4:15:72:72,0,464:26
1	985446	.	G	T	1750.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=44;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs2275812;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275812" target="_blank">rs2275812</a>;ExAC.Info.AC=32090;ExAC.Info.AN=76872;ExAC.Info.AF=0.417;ExAC.Info.AC_Het=3206;ExAC.Info.AC_Hom=1257;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4879+29G>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.4879+29G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.4879+29G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:985446">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,7:10:97:182,0,97:97	0/1:7,10:17:99:287,0,235:97	0/1:6,11:17:99:361,0,171:97
1	985449	.	G	A	2971.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=40;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs2799067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2799067" target="_blank">rs2799067</a>;ExAC.Info.AC=38316;ExAC.Info.AN=82534;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=3178;ExAC.Info.AC_Hom=1690;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4879+32G>A;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.4879+32G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.4879+32G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:985449">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,10:10:33:383,33,0:32	1|1:0,16:16:47:575,47,0:32	1|0:4,10:14:75:420,0,75:32
1	985450	.	G	A	118.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=39;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);ExAC.Info.AC=31015;ExAC.Info.AN=87388;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=3470;ExAC.Info.AC_Hom=1843;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4879+33G>A;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.4879+33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.4879+33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:985450">View</a>	GT:AD:DP:GQ:PL:TP	0|0:10,0:10:33:0,33,414:32	0|0:16,0:16:48:0,48,618:32	0|1:9,4:13:78:78,0,387:32
1	986443	.	C	T	10083.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs2710887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2710887" target="_blank">rs2710887</a>;ExAC.Info.AC=34277;ExAC.Info.AN=42112;ExAC.Info.AF=0.814;ExAC.Info.AC_Het=1680;ExAC.Info.AC_Hom=6884;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5254-190C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.5254-190C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.5254-190C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:986443">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,22:68:99:546,0,1321:127	0|1:51,42:93:99:1335,0,1396:127	1|1:0,67:67:99:2344,201,0:127
1	987200	.	C	T	19802.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs9803031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9803031" target="_blank">rs9803031</a>;ExAC.Info.AC=110693;ExAC.Info.AN=126356;ExAC.Info.AF=0.876;ExAC.Info.AC_Het=11245;ExAC.Info.AC_Hom=48987;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5651+5C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Alternative_splice_site_to_produce_'z'_isoforms];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5652C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Alternative_splice_site_to_produce_'z'_isoforms];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5652C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5652C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.5651+5C>T;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.5651+5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:987200">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,60:133:99:1712,0,2142:127	0|1:95,90:185:99:2612,0,2601:127	1|1:0,131:131:99:4626,394,0:127
1	988932	.	G	C	3591.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs2710871;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2710871" target="_blank">rs2710871</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5652-201G>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Alternative_splice_site_to_produce_'z'_isoforms];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5652G>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Alternative_splice_site_to_produce_'z'_isoforms];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5652G>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.5652-201G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.5652-201G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:988932">View</a>	GT:AD:DP:GQ:PL:TP	1|0:7,21:28:99:607,0,138:51	0|1:6,18:24:99:580,0,132:51	1|1:0,17:17:51:568,51,0:51
1	990280	.	C	T	9906.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs4275402;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4275402" target="_blank">rs4275402</a>;ExAC.Info.AC=56017;ExAC.Info.AN=97390;ExAC.Info.AF=0.575;ExAC.Info.AC_Het=5198;ExAC.Info.AC_Hom=4896;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6057C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp2019Asp/c.6057C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.6057C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.6057C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:990280">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1196,108,0:107	1|1:0,57:57:99:1861,170,0:107	1|0:23,23:46:99:668,0,660:107
1	990380	.	C	T	2916.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs3121561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3121561" target="_blank">rs3121561</a>;ExAC.Info.AC=14038;ExAC.Info.AN=71132;ExAC.Info.AF=0.197;ExAC.Info.AC_Het=3889;ExAC.Info.AC_Hom=1030;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=19;snpeff.Amino_Acid_Change=c.*19C>T;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*19C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.*19C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:990380">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2723:127	0|0:91,0:91:99:0,273,3275:127	0|1:41,53:94:99:1477,0,1133:127
1	990417	.	T	C	2662.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Myasthenia|_limb-girdle|_familial|_254300_(3);dbSNP139.ID=rs2465136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2465136" target="_blank">rs2465136</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.5T>C;snpeff.Gene_Name=RP11-54O7.14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-54O714" target="_blank">RP11-54O714</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418300;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=56;snpeff.Amino_Acid_Change=c.*56T>C;snpeff.Amino_Acid_length=2045;snpeff.Gene_Name=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-54O714" target="_blank">RP11-54O714</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379370;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379370;SAVANT_GENE=AGRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGRN" target="_blank">AGRN</a>;SAVANT_INFO=+/36.0kb/36/7.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*56T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGRN+c.*56T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:990417">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,318,3447:127	0|0:105,0:105:99:0,314,3360:127	0|1:49,53:102:99:1350,0,1347:127
1	1007432	.	G	A	7786.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4333796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4333796" target="_blank">rs4333796</a>;ExAC.Info.AC=7010;ExAC.Info.AN=13426;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=2483;ExAC.Info.AC_Hom=1739;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala172Val/c.515C>T;snpeff.Amino_Acid_length=249;snpeff.Gene_Name=RNF223;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF223" target="_blank">RNF223</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453464;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000453464;SAVANT_GENE=RNF223;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF223" target="_blank">RNF223</a>;SAVANT_INFO=-/2.6kb/2/1.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.515C>T_p.Ala172Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF223+c.515C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1007432">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,22:58:99:586,0,1097:127	0/1:38,45:83:99:1347,0,1098:127	0/1:28,35:63:99:1016,0,851:127
1	1018144	.	T	C	4006.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9442395;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9442395" target="_blank">rs9442395</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=129;snpeff.Amino_Acid_Change=c.*129A>G;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=C1orf159;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf159" target="_blank">C1orf159</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448924;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421241;SAVANT_GENE=C1orf159;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf159" target="_blank">C1orf159</a>;SAVANT_INFO=-/34.3kb/10/1.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*129A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf159+c.*129A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1018144">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,17:26:99:561,0,194:127	0/1:13,24:37:99:707,0,375:127	0/1:15,9:24:99:270,0,418:127
1	1026310	.	G	C	2428.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs183697514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=183697514" target="_blank">rs183697514</a>;ExAC.Info.AC=27;ExAC.Info.AN=23880;ExAC.Info.AF=1.131e-03;ExAC.Info.AC_Het=24;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agC/agG;snpeff.Amino_Acid_Change=p.Ser42Arg/c.126C>G;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=C1orf159;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf159" target="_blank">C1orf159</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448924;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421241;SAVANT_GENE=C1orf159;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf159" target="_blank">C1orf159</a>;SAVANT_INFO=-/34.3kb/10/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.73-502C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf159+c.73-502C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1026310">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,226,2454:127	0|1:49,41:90:99:1233,0,1303:127	0|0:67,0:67:99:0,201,2420:127
1	1026707	.	C	A	3196.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4074137;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4074137" target="_blank">rs4074137</a>;ExAC.Info.AC=12184;ExAC.Info.AN=22204;ExAC.Info.AF=0.549;ExAC.Info.AC_Het=2240;ExAC.Info.AC_Hom=1997;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.72+145G>T;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=C1orf159;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf159" target="_blank">C1orf159</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448924;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421241;SAVANT_GENE=C1orf159;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf159" target="_blank">C1orf159</a>;SAVANT_INFO=-/34.3kb/10/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.72+145G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf159+c.72+145G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1026707">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,11:31:99:295,0,608:127	0/1:16,19:35:99:488,0,511:127	0/1:16,12:28:99:369,0,511:127
1	1026801	.	T	A	4719.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4562563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4562563" target="_blank">rs4562563</a>;ExAC.Info.AC=14461;ExAC.Info.AN=24088;ExAC.Info.AF=0.600;ExAC.Info.AC_Het=4031;ExAC.Info.AC_Hom=4099;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.72+51A>T;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=C1orf159;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf159" target="_blank">C1orf159</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448924;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421241;SAVANT_GENE=C1orf159;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf159" target="_blank">C1orf159</a>;SAVANT_INFO=-/34.3kb/10/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.72+51A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf159+c.72+51A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1026801">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,19:40:99:522,0,594:127	0/1:20,27:47:99:744,0,635:127	0/1:33,21:54:99:540,0,882:127
1	1116032	.	C	A	1432.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs374121486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374121486" target="_blank">rs374121486</a>;ExAC.Info.AC=61;ExAC.Info.AN=120506;ExAC.Info.AF=5.062e-04;ExAC.Info.AC_Het=23;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.625+51C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379290;SAVANT_GENE=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;SAVANT_INFO=+/24.0kb/16/2.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.625+51C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTLL10+c.625+51C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1116032">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1566:127	0|0:48,0:48:99:0,144,1803:127	0|1:22,23:45:99:735,0,675:127
1	1118212	.	T	C	2014.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10907171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10907171" target="_blank">rs10907171</a>;ExAC.Info.AC=39223;ExAC.Info.AN=110820;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=3626;ExAC.Info.AC_Hom=2523;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.917-44T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379289;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379290;SAVANT_GENE=TTLL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL10" target="_blank">TTLL10</a>;SAVANT_INFO=+/24.0kb/16/2.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.917-44T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTLL10+c.917-44T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1118212">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,116,1318:95	0|1:20,32:52:99:1026,0,615:95	0|0:32,0:32:96:0,96,1167:95
1	1156131	.	T	C	1328.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2887286;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2887286" target="_blank">rs2887286</a>;ExAC.Info.AC=5435;ExAC.Info.AN=17512;ExAC.Info.AF=0.310;ExAC.Info.AC_Het=2448;ExAC.Info.AC_Hom=1140;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.578-1824A>G;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=SDF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDF4" target="_blank">SDF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360001;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphothreonine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.578T>C;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=SDF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDF4" target="_blank">SDF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360001;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphothreonine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.578T>C;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=SDF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDF4" target="_blank">SDF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360001;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360001;SAVANT_GENE=SDF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDF4" target="_blank">SDF4</a>;SAVANT_INFO=-/15.1kb/7/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.578-1824A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDF4+c.578-1824A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1156131">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2258:127	0|0:85,0:85:99:0,256,2901:127	0|1:32,21:53:99:683,0,888:127
1	1158631	.	A	G	11975.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs6603781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6603781" target="_blank">rs6603781</a>;ExAC.Info.AC=115980;ExAC.Info.AN=126678;ExAC.Info.AF=0.916;ExAC.Info.AC_Het=9456;ExAC.Info.AC_Hom=53093;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp190Asp/c.570T>C;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=SDF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDF4" target="_blank">SDF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360001;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360001;SAVANT_GENE=SDF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDF4" target="_blank">SDF4</a>;SAVANT_INFO=-/15.1kb/7/2.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.570T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDF4+c.570T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1158631">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1305,114,0:127	1|1:0,54:54:99:1756,162,0:127	1|1:0,44:44:99:1382,131,0:127
1	1167610	.	C	A	19.31	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=17;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1167610">View</a>	GT:AD:DP:GQ:PL:TP	0|0:3,0:3:9:0,9,101:9	0|1:5,2:7:28:28,0,136:9	0|0:7,0:7:21:0,21,291:9
1	1197698	.	T	C	1036.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72631900;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72631900" target="_blank">rs72631900</a>;ExAC.Info.AC=516;ExAC.Info.AN=21578;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=443;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.220+1028A>G;snpeff.Amino_Acid_length=275;snpeff.Gene_Name=UBE2J2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2J2" target="_blank">UBE2J2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400930;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221T>C;snpeff.Amino_Acid_length=275;snpeff.Gene_Name=UBE2J2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2J2" target="_blank">UBE2J2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400930;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221T>C;snpeff.Amino_Acid_length=275;snpeff.Gene_Name=UBE2J2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2J2" target="_blank">UBE2J2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400930;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400930;SAVANT_GENE=UBE2J2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2J2" target="_blank">UBE2J2</a>;SAVANT_INFO=-/18.7kb/8/1.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.220+1028A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBE2J2+c.220+1028A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1197698">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,874:71	0|1:24,17:41:99:537,0,579:71	0|0:24,0:24:72:0,72,895:71
1	1226512	.	G	A	2052.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs114257304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114257304" target="_blank">rs114257304</a>;ExAC.Info.AC=1813;ExAC.Info.AN=123842;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1848;ExAC.Info.AC_Hom=18;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val682Met/c.2044G>A;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=SCNN1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCNN1D" target="_blank">SCNN1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379116;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379116;SAVANT_GENE=SCNN1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCNN1D" target="_blank">SCNN1D</a>;SAVANT_INFO=+/11.6kb/18/3.0kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2044G>A_p.Val682Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCNN1D+c.2044G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1226512">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1658:86	0|1:37,38:75:99:1045,0,1095:86	0|0:29,0:29:87:0,87,1015:86
1	1229111	.	A	ACGCCCCTGCCCTGGAGGCCC	667.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=4;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2361-23_2361-24insGGGCCTCCAGGGCAGGGGCG;snpeff.Amino_Acid_length=834;snpeff.Gene_Name=ACAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACAP3" target="_blank">ACAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354700;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2361_2362insCGCCCCTGCCCTGGAGGCCC;snpeff.Amino_Acid_length=834;snpeff.Gene_Name=ACAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACAP3" target="_blank">ACAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354700;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2361_2362insCGCCCCTGCCCTGGAGGCCC;snpeff.Amino_Acid_length=834;snpeff.Gene_Name=ACAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACAP3" target="_blank">ACAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354700;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000354700;SAVANT_GENE=ACAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACAP3" target="_blank">ACAP3</a>;SAVANT_INFO=-/15.6kb/24/3.9kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2361-43_2361-24dup20;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACAP3+c.2361-43_2361-24dup20+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1229111">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,1:1:4:126,4,0:2	1|1:0,3:3:6:130,6,0:2	1|1:0,0:0:2:82,2,0:2
1	1242707	.	A	G	18045.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2274262;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274262" target="_blank">rs2274262</a>;ExAC.Info.AC=12110;ExAC.Info.AN=17968;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=2296;ExAC.Info.AC_Hom=3753;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.47+442T>C;snpeff.Amino_Acid_length=834;snpeff.Gene_Name=ACAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACAP3" target="_blank">ACAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354700;SAVANT_GENE=ACAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACAP3" target="_blank">ACAP3</a>;SAVANT_INFO=-/15.6kb/24/3.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.47+442T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACAP3+c.47+442T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1242707">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2506,216,0:127	1|1:0,77:77:99:2885,231,0:127	1|1:0,63:63:99:2232,188,0:127
1	1246004	.	A	G	9471.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2296474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296474" target="_blank">rs2296474</a>;ExAC.Info.AC=120417;ExAC.Info.AN=125520;ExAC.Info.AF=0.959;ExAC.Info.AC_Het=4086;ExAC.Info.AC_Hom=53662;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.645-10A>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=PUSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PUSL1" target="_blank">PUSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379031;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379031;SAVANT_GENE=PUSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PUSL1" target="_blank">PUSL1</a>;SAVANT_INFO=+/3.1kb/8/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.645-10A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PUSL1+c.645-10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1246004">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:1067,78,0:63	1|1:1,56:57:99:1926,143,0:63	1|1:0,21:21:63:784,63,0:63
1	1247494	.	T	C	6866.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12103" target="_blank">rs12103</a>;ExAC.Info.AC=65487;ExAC.Info.AN=120726;ExAC.Info.AF=0.542;ExAC.Info.AC_Het=12447;ExAC.Info.AC_Hom=13501;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro553Pro/c.1659A>G;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=CPSF3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF3L" target="_blank">CPSF3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540437;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000435064;SAVANT_GENE=CPSF3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF3L" target="_blank">CPSF3L</a>;SAVANT_INFO=-/13.1kb/17/2.1kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1641A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPSF3L+c.1641A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1247494">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1094,90,0:62	1|1:0,21:21:63:761,63,0:62	1|1:0,25:25:75:863,75,0:62
1	1249187	.	G	A	47050.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=573;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12142199;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12142199" target="_blank">rs12142199</a>;ExAC.Info.AC=73310;ExAC.Info.AN=126326;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=20045;ExAC.Info.AC_Hom=26132;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe300Phe/c.900C>T;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=CPSF3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF3L" target="_blank">CPSF3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540437;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000435064;SAVANT_GENE=CPSF3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF3L" target="_blank">CPSF3L</a>;SAVANT_INFO=-/13.1kb/17/2.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.882C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPSF3L+c.882C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1249187">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:5558,508,0:127	1|1:1,218:219:99:7545,648,0:127	1|1:0,185:185:99:6375,556,0:127
1	1254436	.	A	G	26434.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1886773;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1886773" target="_blank">rs1886773</a>;ExAC.Info.AC=79877;ExAC.Info.AN=90302;ExAC.Info.AF=0.885;ExAC.Info.AC_Het=1766;ExAC.Info.AC_Hom=9151;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.447+240T>C;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=CPSF3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF3L" target="_blank">CPSF3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540437;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000435064;SAVANT_GENE=CPSF3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF3L" target="_blank">CPSF3L</a>;SAVANT_INFO=-/13.1kb/17/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.429+240T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPSF3L+c.429+240T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1254436">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:3064,211,0:127	1|1:0,70:70:99:3242,223,0:127	1|1:0,81:81:99:3622,247,0:127
1	1254443	.	G	A	26972.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1886772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1886772" target="_blank">rs1886772</a>;ExAC.Info.AC=74916;ExAC.Info.AN=90972;ExAC.Info.AF=0.824;ExAC.Info.AC_Het=2688;ExAC.Info.AC_Hom=9445;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.447+233C>T;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=CPSF3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF3L" target="_blank">CPSF3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540437;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000435064;SAVANT_GENE=CPSF3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF3L" target="_blank">CPSF3L</a>;SAVANT_INFO=-/13.1kb/17/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.429+233C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPSF3L+c.429+233C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1254443">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:3091,211,0:127	1|1:0,75:75:99:3446,241,0:127	1|1:0,81:81:99:3637,247,0:127
1	1254841	.	C	G	15745.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10907179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10907179" target="_blank">rs10907179</a>;ExAC.Info.AC=106924;ExAC.Info.AN=126242;ExAC.Info.AF=0.847;ExAC.Info.AC_Het=13110;ExAC.Info.AC_Hom=46095;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggC;snpeff.Amino_Acid_Change=p.Gly94Gly/c.282G>C;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=CPSF3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF3L" target="_blank">CPSF3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540437;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000435064;SAVANT_GENE=CPSF3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF3L" target="_blank">CPSF3L</a>;SAVANT_INFO=-/13.1kb/17/2.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.264G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPSF3L+c.264G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1254841">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1878,165,0:127	1|1:0,80:80:99:2908,240,0:127	1|1:0,52:52:99:1891,156,0:127
1	1262591	.	C	T	15340.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2296472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296472" target="_blank">rs2296472</a>;ExAC.Info.AC=105777;ExAC.Info.AN=124546;ExAC.Info.AF=0.849;ExAC.Info.AC_Het=12737;ExAC.Info.AC_Hom=45132;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.123-30C>T;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=GLTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLTPD1" target="_blank">GLTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343938;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.123C>T;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=GLTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLTPD1" target="_blank">GLTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343938;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.123C>T;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=GLTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLTPD1" target="_blank">GLTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343938;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343938;SAVANT_GENE=GLTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLTPD1" target="_blank">GLTPD1</a>;SAVANT_INFO=+/4.1kb/3/2.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.123-30C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLTPD1+c.123-30C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1262591">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1794,165,0:127	1|1:0,75:75:99:2405,224,0:127	1|1:2,55:57:99:1816,150,0:127
1	1262966	.	C	T	17229.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs307349;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=307349" target="_blank">rs307349</a>;ExAC.Info.AC=105953;ExAC.Info.AN=123582;ExAC.Info.AF=0.857;ExAC.Info.AC_Het=11856;ExAC.Info.AC_Hom=41655;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.468C>T;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=GLTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLTPD1" target="_blank">GLTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343938;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg156Arg/c.468C>T;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=GLTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLTPD1" target="_blank">GLTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343938;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343938;SAVANT_GENE=GLTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLTPD1" target="_blank">GLTPD1</a>;SAVANT_INFO=+/4.1kb/3/2.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.468C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLTPD1+c.468C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1262966">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2268,207,0:127	1|1:0,76:76:99:2673,228,0:127	1|1:0,59:59:99:2034,177,0:127
1	1268847	.	T	G	39408.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=462;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs307378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=307378" target="_blank">rs307378</a>;ExAC.Info.AC=120398;ExAC.Info.AN=125440;ExAC.Info.AF=0.960;ExAC.Info.AC_Het=4474;ExAC.Info.AC_Hom=56301;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1601-39T>G;snpeff.Amino_Acid_length=852;snpeff.Gene_Name=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339381;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601T>G;snpeff.Amino_Acid_length=852;snpeff.Gene_Name=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339381;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601T>G;snpeff.Amino_Acid_length=852;snpeff.Gene_Name=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339381;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601T>G;snpeff.Amino_Acid_length=852;snpeff.Gene_Name=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339381;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601T>G;snpeff.Amino_Acid_length=852;snpeff.Gene_Name=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339381;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601T>G;snpeff.Amino_Acid_length=852;snpeff.Gene_Name=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339381;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601T>G;snpeff.Amino_Acid_length=852;snpeff.Gene_Name=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339381;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339381;SAVANT_GENE=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;SAVANT_INFO=+/4.0kb/6/3.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1601-39T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R3+c.1601-39T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1268847">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,150:150:99:5275,451,0:127	1|1:0,186:186:99:6537,558,0:127	1|1:0,126:126:99:4535,378,0:127
1	1269554	.	T	C	21980.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs307377;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=307377" target="_blank">rs307377</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Insensitivity_to_glutamate_taste|_association_with;hgmd_2014.2.OMIM_ID=605865;hgmd_2014.2.PubMed=19571223;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19571223" target="_blank">19571223</a>;ExAC.Info.AC=117891;ExAC.Info.AN=123290;ExAC.Info.AF=0.956;ExAC.Info.AC_Het=3248;ExAC.Info.AC_Hom=40056;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2269T>C;snpeff.Amino_Acid_length=852;snpeff.Gene_Name=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339381;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys757Arg/c.2269T>C;snpeff.Amino_Acid_length=852;snpeff.Gene_Name=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339381;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339381;SAVANT_GENE=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;SAVANT_INFO=+/4.0kb/6/3.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.2269T>C_p.Cys757Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R3+c.2269T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1269554">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2637,225,0:127	1|1:0,105:105:99:3543,315,0:127	1|1:0,89:89:99:3064,267,0:127
1	1269888	.	C	A	552.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=67;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs139522421;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139522421" target="_blank">rs139522421</a>;ExAC.Info.AC=1720;ExAC.Info.AN=118270;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=419;ExAC.Info.AC_Hom=5;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=44;snpeff.Amino_Acid_Change=c.*44C>A;snpeff.Amino_Acid_length=852;snpeff.Gene_Name=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339381;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339381;SAVANT_GENE=TAS1R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R3" target="_blank">TAS1R3</a>;SAVANT_INFO=+/4.0kb/6/3.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*44C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R3+c.*44C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1269888">View</a>	GT:AD:DP:GQ:PL:TP	0|0:15,0:15:45:0,45,552:44	0|1:22,10:32:99:295,0,703:44	0|0:20,0:20:60:0,60,636:44
1	1273116	.	A	G	19987.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=237;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs307371;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=307371" target="_blank">rs307371</a>;ExAC.Info.AC=19447;ExAC.Info.AN=22910;ExAC.Info.AF=0.849;ExAC.Info.AC_Het=1352;ExAC.Info.AC_Hom=4625;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1714+241T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=DVL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DVL1" target="_blank">DVL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378888;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378891;SAVANT_GENE=DVL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DVL1" target="_blank">DVL1</a>;SAVANT_INFO=-/13.8kb/15/2.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1639+241T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DVL1+c.1639+241T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1273116">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2271,210,0:127	1|1:0,106:106:99:3525,318,0:127	1|1:0,61:61:99:2011,183,0:127
1	1276973	.	G	GACAC	42443.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs145370195;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145370195" target="_blank">rs145370195</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.605+74_605+73insGTGT;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=DVL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DVL1" target="_blank">DVL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378888;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000378891;SAVANT_GENE=DVL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DVL1" target="_blank">DVL1</a>;SAVANT_INFO=-/13.8kb/15/2.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.605+70_605+73dupGTGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DVL1+c.605+70_605+73dupGTGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1276973">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:5281,360,0:127	1|1:0,142:142:99:6512,442,0:127	1|1:0,121:121:99:5447,370,0:127
1	1277533	.	T	C	7314.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs307362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=307362" target="_blank">rs307362</a>;ExAC.Info.AC=116659;ExAC.Info.AN=117242;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=126;ExAC.Info.AC_Hom=24128;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro122Pro/c.366A>G;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=DVL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DVL1" target="_blank">DVL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378888;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378891;SAVANT_GENE=DVL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DVL1" target="_blank">DVL1</a>;SAVANT_INFO=-/13.8kb/15/2.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.366A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DVL1+c.366A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1277533">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:918,81,0:71	1|1:0,32:32:96:1080,96,0:71	1|1:0,24:24:72:933,72,0:71
1	1288583	.	C	G	10736.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3845295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3845295" target="_blank">rs3845295</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=98;snpeff.Amino_Acid_Change=c.*98G>C;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309212;SAVANT_GENE=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;SAVANT_INFO=-/5.8kb/10/2.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*401G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MXRA8+c.*401G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1288583">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1307,114,0:104	1|1:0,42:42:99:1476,105,0:104	1|1:0,40:40:99:1407,120,0:104
1	1289367	.	CTG	C	23733.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs140777846;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140777846" target="_blank">rs140777846</a>;ExAC.Info.AC=110521;ExAC.Info.AN=125644;ExAC.Info.AF=0.880;ExAC.Info.AC_Het=12259;ExAC.Info.AC_Hom=47720;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1222+41_1222+42delCA;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000309212;SAVANT_GENE=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;SAVANT_INFO=-/5.8kb/10/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1222+41_1222+42delCA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MXRA8+c.1222+41_1222+42delCA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1289367">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2980,205,0:127	1|1:0,81:81:99:3575,244,0:127	1|1:0,71:71:99:3161,214,0:127
1	1290276	.	C	G	6033.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs75904949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75904949" target="_blank">rs75904949</a>;ExAC.Info.AC=29;ExAC.Info.AN=123436;ExAC.Info.AF=2.349e-04;ExAC.Info.AC_Het=28;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.735C>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.735C>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.735C>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.735C>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.735C>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.735C>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.735C>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.735C>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtC;snpeff.Amino_Acid_Change=p.Val245Val/c.735G>C;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309212;SAVANT_GENE=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;SAVANT_INFO=-/5.8kb/10/2.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.735G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MXRA8+c.735G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1290276">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,36:69:99:1066,0,993:127	1|0:34,39:73:99:1212,0,1051:127	0|0:50,0:50:99:0,150,1905:127
1	1293764	.	G	C	8881.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs34841888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34841888" target="_blank">rs34841888</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.49+72C>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50G>C;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50G>C;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445648;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309212;SAVANT_GENE=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;SAVANT_INFO=-/5.8kb/10/2.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.49+72C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MXRA8+c.49+72C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1293764">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1197,96,0:83	1|1:0,28:28:84:1055,84,0:83	1|1:0,32:32:96:1163,96,0:83
1	1296691	.	C	G	20340.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2765025;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2765025" target="_blank">rs2765025</a>;ExAC.Info.AC=19706;ExAC.Info.AN=21044;ExAC.Info.AF=0.936;ExAC.Info.AC_Het=912;ExAC.Info.AC_Hom=7611;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MXRA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXRA8" target="_blank">MXRA8</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MXRA8+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1296691">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1808,150,0:127	1|1:0,88:88:99:3436,265,0:127	1|1:0,71:71:99:2549,213,0:127
1	1310074	.	C	G	12471.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2765035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2765035" target="_blank">rs2765035</a>;ExAC.Info.AC=91546;ExAC.Info.AN=104686;ExAC.Info.AF=0.874;ExAC.Info.AC_Het=2826;ExAC.Info.AC_Hom=12711;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.52+11G>C;snpeff.Amino_Acid_length=199;snpeff.Gene_Name=AURKAIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AURKAIP1" target="_blank">AURKAIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321751;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338370;SAVANT_GENE=AURKAIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AURKAIP1" target="_blank">AURKAIP1</a>;SAVANT_INFO=-/1.4kb/3/1.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.52+11G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AURKAIP1+c.52+11G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1310074">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1893,165,0:127	1|1:0,46:46:99:1647,138,0:127	1|1:0,45:45:99:1639,135,0:127
1	1323945	.	GTC	G	1298.17	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=21;MQ=70.76;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs111530797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111530797" target="_blank">rs111530797</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1007-502_1007-501delGA;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=CCNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNL2" target="_blank">CCNL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400809;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000400809;SAVANT_GENE=CCNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNL2" target="_blank">CCNL2</a>;SAVANT_INFO=-/12.8kb/11/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1007-502_1007-501delGA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNL2+c.1007-502_1007-501delGA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1323945">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,7:7:21:246,21,0:8	1|1:1,6:7:8:175,8,0:8	1|1:0,7:7:21:186,21,0:8
1	1361633	.	G	A	268.84	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=26;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12022947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12022947" target="_blank">rs12022947</a>;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser42Ser/c.126G>A;snpeff.Amino_Acid_length=163;snpeff.Gene_Name=TMEM88B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM88B" target="_blank">TMEM88B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378821;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM88B" target="_blank">TMEM88B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM88B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1361633">View</a>	GT:AD:DP:GQ:PL:TP	0|0:12,0:12:36:0,36,778:18	0|1:5,4:9:99:153,0,315:18	0|0:5,0:5:18:0,18,426:18
1	1361641	.	C	T	338.84	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=31;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12030806;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12030806" target="_blank">rs12030806</a>;ExAC.Info.AC=9517;ExAC.Info.AN=23976;ExAC.Info.AF=0.397;ExAC.Info.AC_Het=2064;ExAC.Info.AC_Hom=1795;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro45Leu/c.134C>T;snpeff.Amino_Acid_length=163;snpeff.Gene_Name=TMEM88B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM88B" target="_blank">TMEM88B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378821;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM88B" target="_blank">TMEM88B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM88B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1361641">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,842:18	0|1:6,5:11:99:188,0,348:18	0|0:6,0:6:18:0,18,426:18
1	1374834	.	A	G	270.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=63;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1892289;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1892289" target="_blank">rs1892289</a>;ExAC.Info.AC=6339;ExAC.Info.AN=25300;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=1563;ExAC.Info.AC_Hom=1064;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1005A>G;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=VWA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA1" target="_blank">VWA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000476993;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro335Pro/c.1005A>G;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=VWA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA1" target="_blank">VWA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000476993;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000476993;SAVANT_GENE=VWA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA1" target="_blank">VWA1</a>;SAVANT_INFO=+/7.2kb/3/4.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1005A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA1+c.1005A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1374834">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,872:68	0|1:9,5:14:99:154,0,291:68	0|0:23,0:23:69:0,69,858:68
1	1386016	.	A	G	1850.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=214;MQ=68.54;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34301361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34301361" target="_blank">rs34301361</a>;ExAC.Info.AC=24469;ExAC.Info.AN=124596;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=10612;ExAC.Info.AC_Hom=1939;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=48;snpeff.Amino_Acid_Change=c.-48A>G;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ATAD3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3C" target="_blank">ATAD3C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378785;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378785;SAVANT_GENE=ATAD3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3C" target="_blank">ATAD3C</a>;SAVANT_INFO=+/20.5kb/12/3.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-48A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATAD3C+c.-48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1386016">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2378:127	0|1:33,36:69:99:944,0,876:127	0|0:70,0:70:99:0,210,2222:127
1	1387667	.	C	G	46936.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=567;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1781144;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1781144" target="_blank">rs1781144</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.153-78C>G;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ATAD3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3C" target="_blank">ATAD3C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378785;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378785;SAVANT_GENE=ATAD3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3C" target="_blank">ATAD3C</a>;SAVANT_INFO=+/20.5kb/12/3.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.153-78C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATAD3C+c.153-78C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1387667">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,177:177:99:5987,531,0:127	1|1:0,184:184:99:6648,553,0:127	1|1:0,206:206:99:7246,619,0:127
1	1387726	.	A	G	2134.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=494;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs9793066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9793066" target="_blank">rs9793066</a>;ExAC.Info.AC=30703;ExAC.Info.AN=126676;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=20669;ExAC.Info.AC_Hom=4989;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.153-19A>G;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ATAD3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3C" target="_blank">ATAD3C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378785;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378785;SAVANT_GENE=ATAD3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3C" target="_blank">ATAD3C</a>;SAVANT_INFO=+/20.5kb/12/3.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.153-19A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATAD3C+c.153-19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1387726">View</a>	GT:AD:DP:GQ:PL:TP	0|0:158,0:158:99:0,474,4975:127	0|1:109,44:153:99:1086,0,2918:127	0|0:183,0:183:99:0,550,6073:127
1	1390875	.	C	T	570.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=46;MQ=66.84;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1781147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1781147" target="_blank">rs1781147</a>;ExAC.Info.AC=38091;ExAC.Info.AN=126292;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=23438;ExAC.Info.AC_Hom=6947;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp138Asp/c.414C>T;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ATAD3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3C" target="_blank">ATAD3C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378785;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378785;SAVANT_GENE=ATAD3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3C" target="_blank">ATAD3C</a>;SAVANT_INFO=+/20.5kb/12/3.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.414C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATAD3C+c.414C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1390875">View</a>	GT:AD:DP:GQ:PL:TP	0|0:16,0:16:48:0,48,534:43	0|1:6,9:15:99:304,0,165:43	0|0:15,0:15:45:0,45,541:43
1	1407372	.	T	C	78.86	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=17;MQ=54.78;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs188574574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=188574574" target="_blank">rs188574574</a>;ExAC.Info.AC=310;ExAC.Info.AN=9400;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=21;ExAC.Info.AC_Hom=20;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly36Gly/c.108T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308647;SAVANT_GENE=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;SAVANT_INFO=+/24.4kb/16/2.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.108T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATAD3B+c.108T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1407372">View</a>	GT:AD:DP:GQ:PL:TP	0|0:7,0:7:21:0,21,273:16	0|1:2,2:4:37:58,0,37:16	0|0:6,0:6:18:0,18,232:16
1	1418531	.	G	A	2057.95	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=31;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs819973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=819973" target="_blank">rs819973</a>;ExAC.Info.AC=12720;ExAC.Info.AN=12732;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=9;ExAC.Info.AC_Hom=5037;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.750+537G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:In_membrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:In_membrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308647;SAVANT_GENE=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;SAVANT_INFO=+/24.4kb/16/2.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.750+537G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATAD3B+c.750+537G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1418531">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,6:6:18:174,18,0:23	1|1:0,17:17:51:498,51,0:23	1|1:0,8:8:24:253,24,0:23
1	1421916	.	T	C	626.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=235;MQ=57.91;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs201951488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201951488" target="_blank">rs201951488</a>;ExAC.Info.AC=30954;ExAC.Info.AN=126588;ExAC.Info.AF=0.245;ExAC.Info.AC_Het=30743;ExAC.Info.AC_Hom=27;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1090-8T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1090T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1090T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1090T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1090T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1090T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1090T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1090T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1090T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1090T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1090T>C;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308647;SAVANT_GENE=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;SAVANT_INFO=+/24.4kb/16/2.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1090-8T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATAD3B+c.1090-8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1421916">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,291,2857:127	0|1:67,19:86:99:332,0,1809:127	0|0:52,0:52:99:0,156,1667:127
1	1423281	.	G	A	4305.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=185;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs79849353;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79849353" target="_blank">rs79849353</a>;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg418Gln/c.1253G>A;snpeff.Amino_Acid_length=648;snpeff.Gene_Name=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308647;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308647;SAVANT_GENE=ATAD3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3B" target="_blank">ATAD3B</a>;SAVANT_INFO=+/24.4kb/16/2.4kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1253G>A_p.Arg418Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATAD3B+c.1253G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1423281">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,18:48:99:499,0,802:127	0|0:72,0:72:99:0,216,2378:127	1|0:34,31:65:99:969,0,950:127
1	1460793	.	CT	C	472.38	PASS	InheritancePattern=Normal;AC=3;AF=0.600;AN=5;DP=28;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=0/1;dbSNP139.ID=rs57929223;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57929223" target="_blank">rs57929223</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1410+123delT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411delT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411delT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411delT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411delT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411delT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411delT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411delT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411delT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411delT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000378755;SAVANT_GENE=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;SAVANT_INFO=+/22.5kb/16/2.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1410+141delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATAD3A+c.1410+141delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1460793">View</a>	GT:AD:DP:GQ:PL	0/1:3,7:12:13:68,0,137	0/1:2,6:9:18:49,0,146	./1:0,4:7:59:114,59,69
1	1460793	.	CT	CTT	472.38	PASS	InheritancePattern=notInChild;AC=1;AF=0.333;AN=3;DP=28;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1410+124_1410+125insT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411_1412insT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411_1412insT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411_1412insT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411_1412insT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411_1412insT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411_1412insT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411_1412insT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411_1412insT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1411_1412insT;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378755;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000378755;SAVANT_GENE=ATAD3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATAD3A" target="_blank">ATAD3A</a>;SAVANT_INFO=+/22.5kb/16/2.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1410+141dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATAD3A+c.1410+141dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1460793">View</a>	GT:AD:DP:GQ:PL	./0:3,2:12:13:68,59,158	./0:2,1:9:18:49,52,121	./1:0,3:7:59:114,72,87
1	1470807	.	C	T	4784.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs146206869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146206869" target="_blank">rs146206869</a>;ExAC.Info.AC=936;ExAC.Info.AN=27480;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=757;ExAC.Info.AC_Hom=21;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala152Thr/c.454G>A;snpeff.Amino_Acid_length=173;snpeff.Gene_Name=TMEM240;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM240" target="_blank">TMEM240</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378733;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378733;SAVANT_GENE=C1orf70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf70" target="_blank">C1orf70</a>;SAVANT_INFO=-/5.2kb/4/0.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.454G>A_p.Ala152Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf70+c.454G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1470807">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,2793:127	0|1:61,86:147:99:2411,0,1604:127	0|0:105,0:105:99:0,315,3417:127
1	1479333	.	A	G	2548.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7533" target="_blank">rs7533</a>;ExAC.Info.AC=57968;ExAC.Info.AN=126692;ExAC.Info.AF=0.458;ExAC.Info.AC_Het=24804;ExAC.Info.AC_Hom=16517;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>G;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=SSU72;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSU72" target="_blank">SSU72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291386;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro133Pro/c.399T>C;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=SSU72;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSU72" target="_blank">SSU72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291386;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000291386;SAVANT_GENE=SSU72;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSU72" target="_blank">SSU72</a>;SAVANT_INFO=-/33.2kb/5/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.399T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SSU72+c.399T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1479333">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2674:127	0|1:54,49:103:99:1293,0,1530:127	0|0:77,0:77:99:0,231,2391:127
1	1509825	.	A	G	6319.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6666293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6666293" target="_blank">rs6666293</a>;ExAC.Info.AC=55279;ExAC.Info.AN=124268;ExAC.Info.AF=0.445;ExAC.Info.AC_Het=17783;ExAC.Info.AC_Hom=12103;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.80+33T>C;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=SSU72;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSU72" target="_blank">SSU72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291386;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.81A>G;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=SSU72;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSU72" target="_blank">SSU72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291386;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.81A>G;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=SSU72;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSU72" target="_blank">SSU72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291386;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000291386;SAVANT_GENE=SSU72;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSU72" target="_blank">SSU72</a>;SAVANT_INFO=-/33.2kb/5/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.80+33T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SSU72+c.80+33T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1509825">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,28:49:99:816,0,551:127	0/1:39,30:69:99:897,0,1176:127	0/1:25,31:56:99:829,0,723:127
1	1551927	.	T	C	14585.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7418389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7418389" target="_blank">rs7418389</a>;ExAC.Info.AC=72163;ExAC.Info.AN=122870;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=22497;ExAC.Info.AC_Hom=20049;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe72Leu/c.214T>C;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000505820;SAVANT_GENE=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;SAVANT_INFO=+/15.2kb/20/3.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.214T>C_p.Phe72Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIB2+c.214T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1551927">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1408,123,0:116	1|1:0,72:72:99:2781,217,0:116	1|1:0,39:39:99:1470,117,0:116
1	1563789	.	C	A	6597.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs74892851;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74892851" target="_blank">rs74892851</a>;ExAC.Info.AC=33208;ExAC.Info.AN=123524;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=21144;ExAC.Info.AC_Hom=5152;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2313+10C>A;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2314C>A;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2314C>A;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000505820;SAVANT_GENE=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;SAVANT_INFO=+/15.2kb/20/3.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2313+10C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIB2+c.2313+10C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1563789">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,23:57:99:543,0,966:127	0/1:35,51:86:99:1538,0,1017:127	0/1:33,23:56:99:677,0,980:127
1	1564064	.	G	A	238.81	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=23;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|P|P|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201947158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201947158" target="_blank">rs201947158</a>;ExAC.Info.AC=220;ExAC.Info.AN=120964;ExAC.Info.AF=1.819e-03;ExAC.Info.AC_Het=137;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[repeat:ANK_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2509G>A;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala837Thr/c.2509G>A;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000505820;SAVANT_GENE=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;SAVANT_INFO=+/15.2kb/20/3.3kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2509G>A_p.Ala837Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIB2+c.2509G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1564064">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,0:11:33:0,33,472:20	0|0:7,0:7:21:0,21,248:20	0|1:1,4:5:20:138,0,20:20
1	1564712	.	G	T	4905.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61774907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61774907" target="_blank">rs61774907</a>;ExAC.Info.AC=31850;ExAC.Info.AN=111586;ExAC.Info.AF=0.285;ExAC.Info.AC_Het=14566;ExAC.Info.AC_Hom=3528;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2726+21G>T;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2727G>T;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2727G>T;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000505820;SAVANT_GENE=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;SAVANT_INFO=+/15.2kb/20/3.3kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2726+21G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIB2+c.2726+21G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1564712">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,12:35:99:252,0,726:127	0/1:27,23:50:99:664,0,913:127	0/1:25,33:58:99:895,0,810:127
1	1564952	.	TG	T	3926.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=113;MQ=70.03;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs112177324;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112177324" target="_blank">rs112177324</a>;ExAC.Info.AC=27603;ExAC.Info.AN=118990;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=9855;ExAC.Info.AC_Hom=2513;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2908+7delG;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2909delG;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2909delG;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2909delG;snpeff.Amino_Acid_length=1070;snpeff.Gene_Name=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505820;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000505820;SAVANT_GENE=MIB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIB2" target="_blank">MIB2</a>;SAVANT_INFO=+/15.2kb/20/3.3kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2908+12delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIB2+c.2908+12delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1564952">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,23:35:99:624,0,274:127	0/1:22,23:45:99:594,0,560:127	0/1:16,17:33:99:440,0,406:127
1	1575836	.	C	G	4182.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=403;MQ=44.74;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs72468213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72468213" target="_blank">rs72468213</a>;ExAC.Info.AC=49329;ExAC.Info.AN=125278;ExAC.Info.AF=0.394;ExAC.Info.AC_Het=48806;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1085-23G>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1575836">View</a>	GT:AD:DP:GQ:PL:TP	0/1:119,28:147:99:416,0,3183:127	0/1:114,28:142:99:465,0,3223:127	0/1:85,29:114:99:604,0,2217:127
1	1581558	.	C	T	1855.13	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=21;MQ=57.51;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs117719933;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=117719933" target="_blank">rs117719933</a>;ExAC.Info.AC=30028;ExAC.Info.AN=47758;ExAC.Info.AF=0.629;ExAC.Info.AC_Het=1036;ExAC.Info.AC_Hom=3277;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228-149G>A;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1581558">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,2:2:6:79,6,0:19	1|1:0,12:12:36:476,36,0:19	1|1:0,7:7:21:272,21,0:19
1	1581759	.	G	A	10845.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=686;MQ=64.27;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61774915;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61774915" target="_blank">rs61774915</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228-350C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1581759">View</a>	GT:AD:DP:GQ:PL:TP	0/1:135,67:202:99:1909,0,3888:127	0/1:191,64:255:99:1610,0,5650:127	0/1:162,67:229:99:1826,0,4698:127
1	1582106	.	T	C	36305.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=450;MQ=48.07;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs79942991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79942991" target="_blank">rs79942991</a>;ExAC.Info.AC=113982;ExAC.Info.AN=122784;ExAC.Info.AF=0.928;ExAC.Info.AC_Het=8540;ExAC.Info.AC_Hom=52517;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228-697A>G;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1582106">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,142:142:99:4967,427,0:127	1|1:0,173:173:99:6118,519,0:127	1|1:1,134:135:99:4662,364,0:127
1	1582202	.	C	T	21819.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=711;MQ=57.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61774918;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61774918" target="_blank">rs61774918</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228-793G>A;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1582202">View</a>	GT:AD:DP:GQ:PL:TP	0/1:104,97:201:99:2604,0,3053:127	0/1:131,140:271:99:3818,0,3553:127	0/1:116,123:239:99:3383,0,3204:127
1	1582455	.	G	A	2663.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=202;MQ=51.09;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs146214448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146214448" target="_blank">rs146214448</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228-1046C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1582455">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,19:68:99:475,0,1560:127	0/1:60,16:76:99:339,0,1906:127	0/1:37,21:58:99:560,0,1170:127
1	1582961	.	G	C	6924.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=385;MQ=44.14;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61774949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61774949" target="_blank">rs61774949</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228-1552C>G;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1582961">View</a>	GT:AD:DP:GQ:PL:TP	0/1:79,51:130:99:1183,0,1927:127	0/1:118,27:145:99:386,0,3006:127	0/1:62,48:110:99:1119,0,1564:127
1	1583003	.	C	T	11477.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=334;MQ=48.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs72468214;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72468214" target="_blank">rs72468214</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228-1594G>A;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1583003">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,70:111:99:1767,0,1030:127	0/1:62,61:123:99:1586,0,1613:127	0/1:43,57:100:99:1419,0,1100:127
1	1583495	.	T	C	1584.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=115;MQ=62.26;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61774952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61774952" target="_blank">rs61774952</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228-2086A>G;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1583495">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,9:45:99:184,0,962:116	0/1:27,10:37:99:250,0,785:116	0/1:27,6:33:99:116,0,787:116
1	1585597	.	A	G	25191.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=402;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7531938;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7531938" target="_blank">rs7531938</a>;ExAC.Info.AC=67686;ExAC.Info.AN=110064;ExAC.Info.AF=0.615;ExAC.Info.AC_Het=7969;ExAC.Info.AC_Hom=8078;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.227+1226T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1585597">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,127:127:99:4334,382,0:127	1|0:74,75:149:99:2080,0,2323:127	1|1:0,126:126:99:4393,379,0:127
1	1585642	.	G	T	38192.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=630;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3936009;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3936009" target="_blank">rs3936009</a>;ExAC.Info.AC=60552;ExAC.Info.AN=103734;ExAC.Info.AF=0.584;ExAC.Info.AC_Het=6191;ExAC.Info.AC_Hom=6384;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.227+1181C>A;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1585642">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,201:201:99:6307,604,0:127	1|0:119,95:214:99:2615,0,3394:127	1|1:0,215:215:99:7197,646,0:127
1	1588717	.	G	A	9530.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=405;MQ=64.23;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61774959;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61774959" target="_blank">rs61774959</a>;ExAC.Info.AC=45201;ExAC.Info.AN=124844;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=44100;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+108C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1588717">View</a>	GT:AD:DP:GQ:PL:TP	0/1:82,33:115:99:1124,0,3487:127	0/1:99,50:149:99:1775,0,4086:127	0/1:94,47:141:99:1777,0,3804:127
1	1588737	.	C	T	10609.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=521;MQ=63.74;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61776760;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61776760" target="_blank">rs61776760</a>;ExAC.Info.AC=43153;ExAC.Info.AN=124846;ExAC.Info.AF=0.346;ExAC.Info.AC_Het=41946;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+88G>A;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1588737">View</a>	GT:AD:DP:GQ:PL:TP	0/1:112,40:152:99:1377,0,4661:127	0/1:137,58:195:99:2008,0,5787:127	0/1:118,56:174:99:2010,0,5126:127
1	1588743	.	A	T	5199.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=548;MQ=63.37;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61776761;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61776761" target="_blank">rs61776761</a>;ExAC.Info.AC=42859;ExAC.Info.AN=124844;ExAC.Info.AF=0.343;ExAC.Info.AC_Het=41669;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+82T>A;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1588743">View</a>	GT:AD:DP:GQ:PL:TP	0/1:119,39:158:99:618,0,5219:127	0/1:146,55:201:99:1111,0,6093:127	0/1:136,53:189:99:987,0,5596:127
1	1588744	.	AGCG	A	9885.29	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=576;MQ=63.25;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs79724854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79724854" target="_blank">rs79724854</a>;ExAC.Info.AC=42833;ExAC.Info.AN=124844;ExAC.Info.AF=0.343;ExAC.Info.AC_Het=41656;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+78_111+80delCGC;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1588744">View</a>	GT:AD:DP:GQ:PL:TP	0/1:131,42:173:99:1366,0,5344:127	0/1:151,56:207:99:1936,0,6166:127	0/1:143,53:196:99:1825,0,5807:127
1	1588808	.	T	TA	1791.96	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=684;MQ=60.65;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+17_111+16insT;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=CDK11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11B" target="_blank">CDK11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1588808">View</a>	GT:AD:DP:GQ:PL:TP	0/1:179,20:199:26:26,0,4811:26	0/1:231,41:272:99:453,0,6169:26	0/1:178,35:213:99:454,0,4755:26
1	1599812	.	C	T	1045.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=121;MQ=45.27;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12729295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12729295" target="_blank">rs12729295</a>;ExAC.Info.AC=57163;ExAC.Info.AN=126260;ExAC.Info.AF=0.453;ExAC.Info.AC_Het=43451;ExAC.Info.AC_Hom=2182;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val312Ile/c.934G>A;snpeff.Amino_Acid_length=405;snpeff.Gene_Name=SLC35E2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2B" target="_blank">SLC35E2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378662;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378662;SAVANT_GENE=SLC35E2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2B" target="_blank">SLC35E2B</a>;SAVANT_INFO=-/31.1kb/10/6.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.934G>A_p.Val312Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2B+c.934G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1599812">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,5:36:71:71,0,928:70	0/1:32,6:38:99:118,0,1018:70	0/1:36,11:47:99:280,0,1090:70
1	1599888	.	A	G	7607.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=308;MQ=48.90;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2072923;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072923" target="_blank">rs2072923</a>;ExAC.Info.AC=63601;ExAC.Info.AN=126552;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=53515;ExAC.Info.AC_Hom=4197;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser286Ser/c.858T>C;snpeff.Amino_Acid_length=405;snpeff.Gene_Name=SLC35E2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2B" target="_blank">SLC35E2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378662;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378662;SAVANT_GENE=SLC35E2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2B" target="_blank">SLC35E2B</a>;SAVANT_INFO=-/31.1kb/10/6.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.858T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2B+c.858T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1599888">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,50:106:99:1350,0,1283:127	0/1:64,44:108:99:1079,0,1479:127	0/1:55,39:94:99:1063,0,1270:127
1	1599940	.	C	T	5021.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=242;MQ=57.46;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61776767;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61776767" target="_blank">rs61776767</a>;ExAC.Info.AC=24527;ExAC.Info.AN=126700;ExAC.Info.AF=0.194;ExAC.Info.AC_Het=20734;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.835-29G>A;snpeff.Amino_Acid_length=405;snpeff.Gene_Name=SLC35E2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2B" target="_blank">SLC35E2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378662;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378662;SAVANT_GENE=SLC35E2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2B" target="_blank">SLC35E2B</a>;SAVANT_INFO=-/31.1kb/10/6.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.835-29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2B+c.835-29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1599940">View</a>	GT:AD:DP:GQ:PL:TP	0/1:71,27:98:99:570,0,1928:127	0/1:52,28:80:99:692,0,1478:127	0/1:43,21:64:99:506,0,1338:127
1	1635004	.	T	C	5866.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=198;MQ=65.27;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs874516;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=874516" target="_blank">rs874516</a>;ExAC.Info.AC=62962;ExAC.Info.AN=118188;ExAC.Info.AF=0.533;ExAC.Info.AC_Het=20598;ExAC.Info.AC_Hom=16857;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4536A>G;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys660Lys/c.1980A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.1971A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.1971A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1635004">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,28:70:99:770,0,1065:127	0/1:38,30:68:99:841,0,1067:127	0/1:26,34:60:99:927,0,704:127
1	1635619	.	T	C	2876.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=71;MQ=69.28;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2076329;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076329" target="_blank">rs2076329</a>;ExAC.Info.AC=75523;ExAC.Info.AN=124798;ExAC.Info.AF=0.605;ExAC.Info.AC_Het=26707;ExAC.Info.AC_Hom=23993;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1696-34A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4304+43A>G;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1696T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1696T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1696T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1696T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1696T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1696T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1696T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1687-34A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.1687-34A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1635619">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,14:22:99:475,0,231:127	0/1:16,16:32:99:468,0,518:127	0/1:7,10:17:99:337,0,199:127
1	1635749	.	C	A	2678.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=78;MQ=64.85;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs55880629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55880629" target="_blank">rs55880629</a>;ExAC.Info.AC=58911;ExAC.Info.AN=125078;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=27299;ExAC.Info.AC_Hom=14819;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4217G>T;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608C>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608C>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608C>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608C>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608C>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608C>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608C>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgT;snpeff.Amino_Acid_Change=p.Arg536Arg/c.1608G>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1599G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.1599G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1635749">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,12:27:99:358,0,438:127	0/1:16,11:27:99:323,0,415:127	0/1:11,13:24:99:345,0,279:127
1	1636044	.	G	A	7124.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=305;MQ=61.71;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1059822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1059822" target="_blank">rs1059822</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=71546;ExAC.Info.AN=124090;ExAC.Info.AF=0.577;ExAC.Info.AC_Het=24808;ExAC.Info.AC_Hom=17036;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4127C>T;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr506Tyr/c.1518C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1509C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.1509C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1636044">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,25:76:99:662,0,1580:127	0/1:78,45:123:99:1303,0,2291:127	0/1:73,33:106:99:907,0,2102:127
1	1636274	.	C	T	3458.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=104;MQ=64.30;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2179381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2179381" target="_blank">rs2179381</a>;ExAC.Info.AC=55320;ExAC.Info.AN=124692;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=26103;ExAC.Info.AC_Hom=14527;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4076+69G>A;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1467+69G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1458+69G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.1458+69G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1636274">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,12:26:99:363,0,421:127	0/1:22,18:40:99:552,0,679:127	0/1:21,17:38:99:490,0,561:127
1	1636330	.	G	A	3843.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=154;MQ=66.18;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs192815888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=192815888" target="_blank">rs192815888</a>;ExAC.Info.AC=791;ExAC.Info.AN=124992;ExAC.Info.AF=6.328e-03;ExAC.Info.AC_Het=721;ExAC.Info.AC_Hom=33;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4076+13C>T;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1467+13C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1458+13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.1458+13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1636330">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,28:52:99:766,0,739:127	1|0:30,24:54:99:642,0,885:127	0|0:48,0:48:99:0,144,1861:127
1	1639046	.	C	G	185.86	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=197;MQ=45.45;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs138369165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138369165" target="_blank">rs138369165</a>;ExAC.Info.AC=43113;ExAC.Info.AN=112396;ExAC.Info.AF=0.384;ExAC.Info.AC_Het=8303;ExAC.Info.AC_Hom=4818;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3804-23G>C;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1079-23G>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1070-23G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.1070-23G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1639046">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,5:59:7:7,0,1469:7	1|0:76,10:86:99:107,0,2002:7	0|0:51,1:52:99:0,121,1558:7
1	1645050	.	C	T	6383.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=78;MQ=48.35;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs77869096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77869096" target="_blank">rs77869096</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3223-1211G>A;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.459-1211G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.489-1211G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.489-1211G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1645050">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:833,72,0:59	1|1:0,34:34:99:1214,102,0:59	1|1:0,20:20:60:728,60,0:59
1	1645093	.	C	T	882.41	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=14;MQ=28.92;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs80318714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80318714" target="_blank">rs80318714</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3223-1254G>A;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.459-1254G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.489-1254G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.489-1254G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1645093">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,8:8:24:278,24,0:6	1|1:0,4:4:12:133,12,0:6	1|1:0,2:2:6:64,6,0:6
1	1645366	.	A	G	2301.16	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=31;MQ=30.87;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7528782;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7528782" target="_blank">rs7528782</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3223-1527T>C;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.459-1527T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.489-1527T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.489-1527T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1645366">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,9:9:27:313,27,0:23	1|1:0,14:14:42:475,42,0:23	1|1:0,8:8:24:278,24,0:23
1	1645687	.	G	A	977.28	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=12;MQ=50.15;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs200159051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200159051" target="_blank">rs200159051</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3223-1848C>T;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.459-1848C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.489-1848C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.489-1848C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1645687">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,2:2:6:74,6,0:10	1|1:0,4:4:12:157,12,0:10	1|1:0,6:6:18:228,18,0:10
1	1646194	.	G	C	201.6	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=18;MQ=39.87;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3222+1591C>G;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.458+1591C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.488+1591C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.488+1591C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1646194">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,1:6:17:17,0,170:6	0|0:10,0:10:30:0,30,352:6	1|1:0,2:2:6:67,6,0:6
1	1646231	.	T	C	875.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=8;MQ=40.94;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs200994957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200994957" target="_blank">rs200994957</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3222+1554A>G;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.458+1554A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.488+1554A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.488+1554A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1646231">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,3:3:9:135,9,0:3	1|1:0,4:4:12:180,12,0:3	1|1:0,1:1:3:45,3,0:3
1	1646236	.	C	T	898.83	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=9;MQ=39.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs202149796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202149796" target="_blank">rs202149796</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3222+1549G>A;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.458+1549G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.488+1549G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.488+1549G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1646236">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:12:158,12,0:4	1|1:0,4:4:12:180,12,0:4	1|1:0,1:1:3:45,3,0:4
1	1646657	.	T	C	588.26	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=7;MQ=43.72;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs760926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=760926" target="_blank">rs760926</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3222+1128A>G;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.458+1128A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.488+1128A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.488+1128A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1646657">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,1:1:3:35,3,0:3	1|1:0,5:5:15:199,15,0:3	1|1:0,1:1:3:39,3,0:3
1	1647928	.	A	G	27317.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=912;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1883424;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1883424" target="_blank">rs1883424</a>;ExAC.Info.AC=37258;ExAC.Info.AN=124994;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=36791;ExAC.Info.AC_Hom=120;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3090-11T>C;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.326-11T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.356-11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.356-11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1647928">View</a>	GT:AD:DP:GQ:PL:TP	0/1:137,167:304:99:4887,0,3430:127	0/1:162,151:313:99:4333,0,4571:127	0/1:151,144:295:99:4022,0,3973:127
1	1650807	.	T	C	31887.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=387;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1137005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1137005" target="_blank">rs1137005</a>;ExAC.Info.AC=59727;ExAC.Info.AN=124942;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=59684;ExAC.Info.AC_Hom=4;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3079A>G;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg105Arg/c.315A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.315A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.315A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1650807">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:4045,351,0:127	1|1:0,148:148:99:5227,445,0:127	1|1:0,122:122:99:4280,367,0:127
1	1650845	.	G	A	37105.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=472;MQ=69.24;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|D|B|D|D|D|D|D|D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1059831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1059831" target="_blank">rs1059831</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes|_type_2|_association_with;hgmd_2014.2.OMIM_ID=116951;hgmd_2014.2.PubMed=17177267;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17177267" target="_blank">17177267</a>;ExAC.Info.AC=59703;ExAC.Info.AN=124984;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=59651;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3041C>T;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg93Trp/c.277C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.277C>T_p.Arg93Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.277C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1650845">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,147:147:99:4836,442,0:127	1|1:0,179:179:99:6240,541,0:127	1|1:0,146:146:99:5021,441,0:127
1	1653004	.	T	C	15846.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=191;MQ=55.90;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs36039898;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36039898" target="_blank">rs36039898</a>;ExAC.Info.AC=106073;ExAC.Info.AN=124496;ExAC.Info.AF=0.852;ExAC.Info.AC_Het=12853;ExAC.Info.AC_Hom=42910;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2991+31A>G;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.227+31A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228T>C;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.227+31A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.227+31A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1653004">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1879,162,0:127	1|1:0,80:80:99:2715,240,0:127	1|1:0,57:57:99:1956,171,0:127
1	1653028	.	C	T	19272.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=236;MQ=59.36;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs16825265;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16825265" target="_blank">rs16825265</a>;ExAC.Info.AC=106391;ExAC.Info.AN=124566;ExAC.Info.AF=0.854;ExAC.Info.AC_Het=12969;ExAC.Info.AC_Hom=46020;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2991+7G>A;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.227+7G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.2992G>A;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.227+7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.227+7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1653028">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2615,228,0:127	1|1:0,92:92:99:3189,276,0:127	1|1:0,68:68:99:2268,204,0:127
1	1654038	.	G	A	4528.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=57;MQ=48.79;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs61777494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61777494" target="_blank">rs61777494</a>;ExAC.Info.AC=52855;ExAC.Info.AN=94116;ExAC.Info.AF=0.562;ExAC.Info.AC_Het=1688;ExAC.Info.AC_Hom=3912;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2864C>T;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+109C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.111+109C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.111+109C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1654038">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,21:21:63:749,63,0:38	1|1:0,23:23:69:858,69,0:38	1|1:0,13:13:39:479,39,0:38
1	1654058	.	C	T	14088.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=121;MQ=54.21;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs61777495;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61777495" target="_blank">rs61777495</a>;ExAC.Info.AC=63688;ExAC.Info.AN=104764;ExAC.Info.AF=0.608;ExAC.Info.AC_Het=4630;ExAC.Info.AC_Hom=4344;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2844G>A;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+89G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.111+89G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.111+89G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1654058">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:2070,138,0:104	1|1:0,51:51:99:2520,169,0:104	1|1:0,30:30:99:1575,105,0:104
1	1654064	.	A	T	16816.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=163;MQ=55.67;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs200615789;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200615789" target="_blank">rs200615789</a>;ExAC.Info.AC=63671;ExAC.Info.AN=104470;ExAC.Info.AF=0.609;ExAC.Info.AC_Het=5425;ExAC.Info.AC_Hom=5673;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2838T>A;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+83T>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112A>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112A>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112A>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112A>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112A>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112A>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112A>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112A>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112A>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112A>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.111+83T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.111+83T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1654064">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:2605,175,0:127	1|1:0,64:64:99:2880,193,0:127	1|1:0,44:44:99:2025,135,0:127
1	1654065	.	AGCG	A	16808.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=167;MQ=55.63;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs35174499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35174499" target="_blank">rs35174499</a>;ExAC.Info.AC=63662;ExAC.Info.AN=104496;ExAC.Info.AF=0.609;ExAC.Info.AC_Het=5571;ExAC.Info.AC_Hom=5863;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2834_2836delCGC;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+79_111+81delCGC;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112_114delGCG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112_114delGCG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112_114delGCG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112_114delGCG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112_114delGCG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112_114delGCG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112_114delGCG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112_114delGCG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112_114delGCG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112_114delGCG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000404249;SAVANT_GENE=CDK11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK11A" target="_blank">CDK11A</a>;SAVANT_INFO=-/21.4kb/20/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.111+79_111+81delCGC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK11A+c.111+79_111+81delCGC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1654065">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2605,175,0:127	1|1:0,64:64:99:2880,193,0:127	1|1:0,45:45:99:2025,136,0:127
1	1663831	.	C	T	8180.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3817856;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3817856" target="_blank">rs3817856</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP1-283E3.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2631+2298G>A;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=63;snpeff.Amino_Acid_Change=c.*63G>A;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246421;SAVANT_GENE=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;SAVANT_INFO=-/13.8kb/6/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*63G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2+c.*63G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1663831">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1720,165,0:127	1|0:48,26:74:99:722,0,1855:127	1|0:40,25:65:99:665,0,1576:127
1	1663851	.	G	C	6884.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2294486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294486" target="_blank">rs2294486</a>;ExAC.Info.AC=44065;ExAC.Info.AN=124416;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=15585;ExAC.Info.AC_Hom=4976;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP1-283E3.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2631+2278C>G;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=43;snpeff.Amino_Acid_Change=c.*43C>G;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246421;SAVANT_GENE=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;SAVANT_INFO=-/13.8kb/6/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*43C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2+c.*43C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1663851">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,190,2806:127	0|1:27,45:72:99:1774,0,998:127	0|1:25,42:67:99:1688,0,959:127
1	1663861	.	G	A	6806.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2294487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294487" target="_blank">rs2294487</a>;ExAC.Info.AC=43997;ExAC.Info.AN=124372;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=19431;ExAC.Info.AC_Hom=6280;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP1-283E3.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2631+2268C>T;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=33;snpeff.Amino_Acid_Change=c.*33C>T;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246421;SAVANT_GENE=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;SAVANT_INFO=-/13.8kb/6/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*33C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2+c.*33C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1663861">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,178,2617:127	0|1:30,44:74:99:1767,0,1052:127	0|1:22,41:63:99:1656,0,820:127
1	1666175	.	C	T	2236.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=81;MQ=36.66;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61777509;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61777509" target="_blank">rs61777509</a>;ExAC.Info.AC=36816;ExAC.Info.AN=126036;ExAC.Info.AF=0.292;ExAC.Info.AC_Het=31173;ExAC.Info.AC_Hom=86;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2585G>A;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP1-283E3.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg229His/c.686G>A;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246421;SAVANT_GENE=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;SAVANT_INFO=-/13.8kb/6/1.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.686G>A_p.Arg229His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2+c.686G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1666175">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,11:26:99:306,0,423:127	0/1:16,14:30:99:339,0,456:127	0/1:14,11:25:99:295,0,404:127
1	1666251	.	G	A	2179.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=190;MQ=39.38;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77655487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77655487" target="_blank">rs77655487</a>;ExAC.Info.AC=36186;ExAC.Info.AN=126676;ExAC.Info.AF=0.286;ExAC.Info.AC_Het=34321;ExAC.Info.AC_Hom=138;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2509C>T;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP1-283E3.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg204Trp/c.610C>T;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E38" target="_blank">RP1-283E38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246421;SAVANT_GENE=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;SAVANT_INFO=-/13.8kb/6/1.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.610C>T_p.Arg204Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2+c.610C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1666251">View</a>	GT:AD:DP:GQ:PL:TP	0/1:45,10:55:99:200,0,1057:127	0/1:46,21:67:99:583,0,1077:127	0/1:54,14:68:99:314,0,1212:127
1	1666303	.	T	C	2738.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=119;MQ=45.59;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs114928632;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114928632" target="_blank">rs114928632</a>;ExAC.Info.AC=14623;ExAC.Info.AN=126500;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=11288;ExAC.Info.AC_Hom=23;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP1-283E3.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.587-29A>G;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2486-29A>G;snpeff.Gene_Name=RP1-283E3.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-283E34" target="_blank">RP1-283E34</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598846;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246421;SAVANT_GENE=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;SAVANT_INFO=-/13.8kb/6/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.587-29A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2+c.587-29A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1666303">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,14:28:99:402,0,390:127	0/1:34,13:47:99:302,0,984:127	0/1:24,20:44:99:563,0,650:127
1	1669734	.	G	T	4335.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=92;MQ=63.14;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs80140081;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80140081" target="_blank">rs80140081</a>;ExAC.Info.AC=52818;ExAC.Info.AN=126210;ExAC.Info.AF=0.418;ExAC.Info.AC_Het=25304;ExAC.Info.AC_Hom=12579;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.586+26C>A;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246421;SAVANT_GENE=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;SAVANT_INFO=-/13.8kb/6/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.586+26C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2+c.586+26C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1669734">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1020,93,0:93	1|0:14,13:27:99:359,0,614:93	1|0:18,16:34:99:405,0,718:93
1	1669748	.	A	G	1940.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=112;MQ=62.01;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs115554296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115554296" target="_blank">rs115554296</a>;ExAC.Info.AC=47040;ExAC.Info.AN=126294;ExAC.Info.AF=0.372;ExAC.Info.AC_Het=26172;ExAC.Info.AC_Hom=9382;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.586+12T>C;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246421;SAVANT_GENE=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;SAVANT_INFO=-/13.8kb/6/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.586+12T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2+c.586+12T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1669748">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1522:108	0|1:19,18:37:99:512,0,693:108	0|1:22,17:39:99:478,0,820:108
1	1669844	.	CCA	C	1409.98	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=51;MQ=55.75;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=295;ExAC.Info.AN=125408;ExAC.Info.AF=2.352e-03;ExAC.Info.AC_Het=227;ExAC.Info.AC_Hom=6;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500_501delCA;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=gtg/;snpeff.Amino_Acid_Change=p.Val167fs/c.500_501delTG;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;LOF=(SLC35E2|ENSG00000215790|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000246421;SAVANT_GENE=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;SAVANT_INFO=-/13.8kb/6/1.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.500_501delTG;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2+c.500_501delTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1669844">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,5:20:99:165,0,615:42	1|0:8,9:17:99:354,0,309:42	0|0:14,0:14:42:0,42,604:42
1	1670958	.	C	G	931.42	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=14;MQ=30.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs146637450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146637450" target="_blank">rs146637450</a>;ExAC.Info.AC=9030;ExAC.Info.AN=20194;ExAC.Info.AF=0.447;ExAC.Info.AC_Het=76;ExAC.Info.AC_Hom=82;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu13Leu/c.39G>C;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246421;SAVANT_GENE=SLC35E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35E2" target="_blank">SLC35E2</a>;SAVANT_INFO=-/13.8kb/6/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.39G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35E2+c.39G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1670958">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,1:1:3:35,3,0:14	1|1:0,6:6:18:203,18,0:14	1|1:0,7:7:21:218,21,0:14
1	1684347	.	C	CCCT	4526.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs150880809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150880809" target="_blank">rs150880809</a>;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ggc/gAGGgc;snpeff.Amino_Acid_Change=p.Gly591_Ter592insGluGly/c.1771_1772insAGG;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=NADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NADK" target="_blank">NADK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344463;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000344463;SAVANT_GENE=NADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NADK" target="_blank">NADK</a>;SAVANT_INFO=-/27.2kb/14/3.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1769_1771dupAGG_p.Glu590dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NADK+c.1769_1771dupAGG+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1684347">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,160,2322:127	0|1:44,53:97:99:1428,0,1544:127	0|1:34,33:67:99:860,0,1330:127
1	1684472	.	C	T	5802.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7407" target="_blank">rs7407</a>;ExAC.Info.AC=55342;ExAC.Info.AN=126348;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=27357;ExAC.Info.AC_Hom=11909;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro549Pro/c.1647G>A;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=NADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NADK" target="_blank">NADK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344463;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344463;SAVANT_GENE=NADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NADK" target="_blank">NADK</a>;SAVANT_INFO=-/27.2kb/14/3.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1647G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NADK+c.1647G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1684472">View</a>	GT:AD:DP:GQ:PL:TP	0|0:131,0:131:99:0,394,4328:127	0|1:53,56:109:99:1535,0,1484:127	0|1:38,50:88:99:1386,0,1013:127
1	1686040	.	G	T	19646.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=311;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4751" target="_blank">rs4751</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=45148;ExAC.Info.AN=126698;ExAC.Info.AF=0.356;ExAC.Info.AC_Het=27572;ExAC.Info.AC_Hom=8776;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaC/aaA;snpeff.Amino_Acid_Change=p.Asn407Lys/c.1221C>A;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=NADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NADK" target="_blank">NADK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344463;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344463;SAVANT_GENE=NADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NADK" target="_blank">NADK</a>;SAVANT_INFO=-/27.2kb/14/3.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1221C>A_p.Asn407Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NADK+c.1221C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1686040">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4465,388,0:127	1|0:58,57:115:99:1713,0,1675:127	1|0:28,39:67:99:1052,0,865:127
1	1687791	.	C	T	3876.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72634840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72634840" target="_blank">rs72634840</a>;ExAC.Info.AC=4452;ExAC.Info.AN=126690;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=4213;ExAC.Info.AC_Hom=114;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.935-9G>A;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=NADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NADK" target="_blank">NADK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344463;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344463;SAVANT_GENE=NADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NADK" target="_blank">NADK</a>;SAVANT_INFO=-/27.2kb/14/3.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.935-9G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NADK+c.935-9G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1687791">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,30:62:99:795,0,970:127	1|0:39,30:69:99:806,0,1155:127	0|0:70,0:70:99:0,210,2545:127
1	1688192	.	A	G	13988.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=172;MQ=69.89;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2281173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281173" target="_blank">rs2281173</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.780-96T>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=NADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NADK" target="_blank">NADK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344463;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344463;SAVANT_GENE=NADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NADK" target="_blank">NADK</a>;SAVANT_INFO=-/27.2kb/14/3.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.780-96T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NADK+c.780-96T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1688192">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1801,159,0:127	1|1:0,70:70:99:2487,210,0:127	1|1:0,49:49:99:1739,147,0:127
1	1749412	.	T	G	5543.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs115507312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115507312" target="_blank">rs115507312</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58-98A>C;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=GNB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNB1" target="_blank">GNB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378609;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58T>G;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=GNB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNB1" target="_blank">GNB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378609;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58T>G;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=GNB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNB1" target="_blank">GNB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378609;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378609;SAVANT_GENE=GNB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNB1" target="_blank">GNB1</a>;SAVANT_INFO=-/105.8kb/12/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.58-98A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNB1+c.58-98A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1749412">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,29:66:99:830,0,921:127	1|0:42,41:83:99:1180,0,1119:127	0|0:69,0:69:99:0,207,2260:127
1	1823922	.	A	G	27800.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6688000;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6688000" target="_blank">rs6688000</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.731A>G;snpeff.Gene_Name=RP1-140A9.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-140A91" target="_blank">RP1-140A91</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000412228;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-140A91" target="_blank">RP1-140A91</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP1-140A91+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1823922">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,111:112:99:3602,298,0:127	1|1:0,120:120:99:4195,360,0:127	1|1:0,104:104:99:3414,311,0:127
1	1846765	.	G	A	4346.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2247560;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2247560" target="_blank">rs2247560</a>;ExAC.Info.AC=33764;ExAC.Info.AN=99832;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=5925;ExAC.Info.AC_Hom=2390;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.27+19G>A;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=CALML6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML6" target="_blank">CALML6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307786;SAVANT_GENE=CALML6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML6" target="_blank">CALML6</a>;SAVANT_INFO=+/2.5kb/6/1.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.27+19G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALML6+c.27+19G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1846765">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1996:127	0|1:49,40:89:99:1179,0,1430:127	0|1:44,36:80:99:1014,0,1375:127
1	1847856	.	G	T	5080.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2748986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2748986" target="_blank">rs2748986</a>;ExAC.Info.AC=32326;ExAC.Info.AN=83596;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=3777;ExAC.Info.AC_Hom=2320;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.79-24G>T;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=CALML6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML6" target="_blank">CALML6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307786;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307786;SAVANT_GENE=CALML6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML6" target="_blank">CALML6</a>;SAVANT_INFO=+/2.5kb/6/1.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.79-24G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALML6+c.79-24G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1847856">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,3047:127	0|1:50,54:104:99:1386,0,1582:127	0|1:46,40:86:99:1174,0,1485:127
1	1848109	.	G	C	5194.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2803296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2803296" target="_blank">rs2803296</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.253+55G>C;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=CALML6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML6" target="_blank">CALML6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307786;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.254G>C;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=CALML6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML6" target="_blank">CALML6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307786;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.254G>C;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=CALML6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML6" target="_blank">CALML6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307786;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307786;SAVANT_GENE=CALML6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML6" target="_blank">CALML6</a>;SAVANT_INFO=+/2.5kb/6/1.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.253+55G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALML6+c.253+55G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1848109">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,181,2459:127	0|1:39,37:76:99:1150,0,1351:127	0|1:26,40:66:99:1467,0,826:127
1	1849529	.	A	G	4192.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28640257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28640257" target="_blank">rs28640257</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=56012;ExAC.Info.AN=126564;ExAC.Info.AF=0.443;ExAC.Info.AC_Het=29150;ExAC.Info.AC_Hom=13168;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met141Thr/c.422T>C;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TMEM52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM52" target="_blank">TMEM52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310991;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310991;SAVANT_GENE=TMEM52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM52" target="_blank">TMEM52</a>;SAVANT_INFO=-/1.7kb/5/0.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.422T>C_p.Met141Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM52+c.422T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1849529">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1726:127	0|1:22,34:56:99:1068,0,641:127	0|1:26,34:60:99:1048,0,747:127
1	1849923	.	C	A	3160.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72634869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72634869" target="_blank">rs72634869</a>;ExAC.Info.AC=5851;ExAC.Info.AN=123816;ExAC.Info.AF=0.047;ExAC.Info.AC_Het=3390;ExAC.Info.AC_Hom=138;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.171-53G>T;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TMEM52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM52" target="_blank">TMEM52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310991;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.171C>A;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TMEM52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM52" target="_blank">TMEM52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310991;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.171C>A;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TMEM52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM52" target="_blank">TMEM52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310991;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310991;SAVANT_GENE=TMEM52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM52" target="_blank">TMEM52</a>;SAVANT_INFO=-/1.7kb/5/0.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.171-53G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM52+c.171-53G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1849923">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,1:86:99:0,221,2690:127	0|1:37,56:93:99:1599,0,1059:127	0|0:93,0:93:99:0,279,3366:127
1	1850428	.	A	G	516.65	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=37;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2295363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295363" target="_blank">rs2295363</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.129-55T>C;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TMEM52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM52" target="_blank">TMEM52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310991;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310991;SAVANT_GENE=TMEM52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM52" target="_blank">TMEM52</a>;SAVANT_INFO=-/1.7kb/5/0.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.128+56T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM52+c.128+56T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1850428">View</a>	GT:AD:DP:GQ:PL:TP	0|0:8,0:8:24:0,24,272:12	0|1:10,8:18:99:266,0,296:12	0|1:8,3:11:12:12,0,222:12
1	1854109	.	A	G	6030.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2803348;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2803348" target="_blank">rs2803348</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=71094;ExAC.Info.AN=125938;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=30015;ExAC.Info.AC_Hom=20120;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2503-282T>C;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2503-282T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.2503-282T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1854109">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,297,3190:127	0|1:63,66:129:99:1888,0,1594:127	0|1:52,40:92:99:1147,0,1488:127
1	1858309	.	T	C	6988.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=447;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs941530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=941530" target="_blank">rs941530</a>;ExAC.Info.AC=11057;ExAC.Info.AN=21178;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=3836;ExAC.Info.AC_Hom=2747;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1511+24A>G;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1511+24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.1511+24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1858309">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,427,4979:127	0|1:115,63:178:99:1719,0,3696:127	0|1:68,59:127:99:1795,0,1926:127
1	1859131	.	C	T	35006.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=649;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4648734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648734" target="_blank">rs4648734</a>;ExAC.Info.AC=4034;ExAC.Info.AN=21480;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=2863;ExAC.Info.AC_Hom=393;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val431Ile/c.1291G>A;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1291G>A_p.Val431Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.1291G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1859131">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,196:196:99:6285,589,0:127	1|0:130,115:245:99:3100,0,3767:127	1|0:108,100:208:99:2816,0,3133:127
1	1861582	.	C	T	6524.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2803295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2803295" target="_blank">rs2803295</a>;ExAC.Info.AC=6464;ExAC.Info.AN=18732;ExAC.Info.AF=0.345;ExAC.Info.AC_Het=3037;ExAC.Info.AC_Hom=1061;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly352Arg/c.1054G>A;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1054G>A_p.Gly352Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.1054G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1861582">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,265,3251:127	0|1:66,62:128:99:1804,0,1770:127	0|1:28,50:78:99:1478,0,754:127
1	1873514	.	A	G	2186.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2803326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2803326" target="_blank">rs2803326</a>;ExAC.Info.AC=9021;ExAC.Info.AN=17694;ExAC.Info.AF=0.510;ExAC.Info.AC_Het=3193;ExAC.Info.AC_Hom=2242;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr139Tyr/c.417T>C;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.417T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.417T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1873514">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1456:127	0|1:13,23:36:99:727,0,325:127	0|1:15,12:27:99:386,0,456:127
1	1873525	.	T	C	2130.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2803327;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2803327" target="_blank">rs2803327</a>;ExAC.Info.AC=9044;ExAC.Info.AN=17860;ExAC.Info.AF=0.506;ExAC.Info.AC_Het=3195;ExAC.Info.AC_Hom=2239;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys136Glu/c.406A>G;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.406A>G_p.Lys136Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.406A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1873525">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1457:127	0|1:15,22:37:99:679,0,405:127	0|1:19,13:32:99:406,0,575:127
1	1873625	.	G	A	6597.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12758705;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12758705" target="_blank">rs12758705</a>;ExAC.Info.AC=2978;ExAC.Info.AN=18850;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=1482;ExAC.Info.AC_Hom=219;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.336-30C>T;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.336-30C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.336-30C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1873625">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1194,96,0:96	1|0:19,18:37:99:510,0,565:96	1|0:18,12:30:99:359,0,556:96
1	1875858	.	C	G	3998.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2803336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2803336" target="_blank">rs2803336</a>;ExAC.Info.AC=6175;ExAC.Info.AN=18786;ExAC.Info.AF=0.329;ExAC.Info.AC_Het=3175;ExAC.Info.AC_Hom=1104;snpeff.Effect=TF_binding_site_variant[MA0138.1:Nrsf];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ctg;snpeff.Amino_Acid_Change=p.Val83Leu/c.247G>C;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.247G>C_p.Val83Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.247G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1875858">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,307,5943:127	0|1:67,33:100:99:1182,0,3701:127	0|1:35,23:58:99:837,0,1826:127
1	1875859	.	A	G	3998.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2803337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2803337" target="_blank">rs2803337</a>;ExAC.Info.AC=6212;ExAC.Info.AN=18794;ExAC.Info.AF=0.331;ExAC.Info.AC_Het=3190;ExAC.Info.AC_Hom=1108;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp82Asp/c.246T>C;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.246T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.246T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1875859">View</a>	GT:AD:DP:GQ:PL:TP	0|0:102,0:102:99:0,307,5943:127	0|1:68,33:101:99:1182,0,3701:127	0|1:36,22:58:99:837,0,1826:127
1	1886756	.	G	GCTGGTGCGCGT	2425.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs142420544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142420544" target="_blank">rs142420544</a>;ExAC.Info.AC=1056;ExAC.Info.AN=67384;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=483;ExAC.Info.AC_Hom=20;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.25+374_25+373insACGCGCACCAG;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=Insertion;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.25+363_25+373dup11;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.25+363_25+373dup11+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1886756">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:80:0,80,1249:79	0|1:18,25:43:99:1236,0,760:79	0|0:39,0:39:99:0,118,1815:79
1	1886859	.	C	T	20691.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3795290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795290" target="_blank">rs3795290</a>;ExAC.Info.AC=23717;ExAC.Info.AN=116782;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=12277;ExAC.Info.AC_Hom=1749;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.25+271G>A;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.25+271G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.25+271G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1886859">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:3940,355,0:127	1|0:76,69:145:99:2090,0,2234:127	1|0:51,68:119:99:2024,0,1578:127
1	1887019	.	A	G	30771.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs28548017;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28548017" target="_blank">rs28548017</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=24176758;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24176758" target="_blank">24176758</a>;ExAC.Info.AC=101659;ExAC.Info.AN=124804;ExAC.Info.AF=0.815;ExAC.Info.AC_Het=17770;ExAC.Info.AC_Hom=40538;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.25+111T>C;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.25+111T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.25+111T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1887019">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,105:105:99:3881,315,0:127	1|1:0,137:137:99:5079,412,0:127	1|1:0,90:90:99:3431,271,0:127
1	1887091	.	CG	C	9896.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs139735565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139735565" target="_blank">rs139735565</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=28440;ExAC.Info.AN=125450;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=21577;ExAC.Info.AC_Hom=3080;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.25+38delC;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=Deletion;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.25+38delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.25+38delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1887091">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2036,159,0:127	1|0:32,27:59:99:874,0,1107:127	1|0:18,25:43:99:845,0,580:127
1	1887111	.	GC	G	9215.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3838975;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3838975" target="_blank">rs3838975</a>;cosmic68.Histology_subtype=ductal_carcinoma;ExAC.Info.AC=28483;ExAC.Info.AN=125604;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=21734;ExAC.Info.AC_Hom=3027;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.25+18delG;snpeff.Amino_Acid_length=867;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000493964;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=Deletion;SAVANT_ENST=ENST00000493964;SAVANT_GENE=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=-/33.4kb/21/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.25+18delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+c.25+18delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1887111">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1909,153,0:127	1|0:28,25:53:99:749,0,887:127	1|0:15,26:41:99:823,0,438:127
1	1887245	.	G	A	12223.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28575980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28575980" target="_blank">rs28575980</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=28362;ExAC.Info.AN=125700;ExAC.Info.AF=0.226;ExAC.Info.AC_Het=21695;ExAC.Info.AC_Hom=3300;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1887245">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2331,213,0:127	1|0:45,44:89:99:1161,0,1136:127	1|0:49,31:80:99:865,0,1394:127
1	1888193	.	C	A	18009.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3820011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820011" target="_blank">rs3820011</a>;ExAC.Info.AC=29199;ExAC.Info.AN=125688;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=21812;ExAC.Info.AC_Hom=3276;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1888193">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3060,285,0:127	1|0:59,55:114:99:1496,0,1601:127	1|0:43,40:83:99:1079,0,1297:127
1	1891477	.	A	G	1892.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2748972;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2748972" target="_blank">rs2748972</a>;ExAC.Info.AC=13056;ExAC.Info.AN=125458;ExAC.Info.AF=0.104;ExAC.Info.AC_Het=10842;ExAC.Info.AC_Hom=979;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1891477">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,2:52:99:0,106,1651:105	0|1:28,30:58:99:965,0,803:105	0|0:43,0:43:99:0,129,1421:105
1	1896440	.	G	A	6673.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs16824585;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16824585" target="_blank">rs16824585</a>;ExAC.Info.AC=29411;ExAC.Info.AN=125426;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=22135;ExAC.Info.AC_Hom=3325;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1896440">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,23:62:99:651,0,1224:127	1|1:0,59:59:99:2099,177,0:127	0|0:69,0:69:99:0,207,2648:127
1	1897753	.	C	G	7141.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=142;MQ=69.68;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4648600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648600" target="_blank">rs4648600</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1897753">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,23:38:99:656,0,410:127	1|1:0,57:57:99:2152,171,0:127	0|0:47,0:47:99:0,141,1799:127
1	1900106	.	T	TCTC	4724.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=80;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs145742571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145742571" target="_blank">rs145742571</a>;ExAC.Info.AC=29425;ExAC.Info.AN=125492;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=22259;ExAC.Info.AC_Hom=3573;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1900106">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,6:16:99:205,0,392:83	1|1:0,36:36:99:1584,108,0:83	0|0:28,0:28:84:0,84,1308:83
1	1900225	.	C	T	2238.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=196;MQ=69.87;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72636304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72636304" target="_blank">rs72636304</a>;ExAC.Info.AC=970;ExAC.Info.AN=125622;ExAC.Info.AF=7.722e-03;ExAC.Info.AC_Het=993;ExAC.Info.AC_Hom=5;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1900225">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,2542:127	0|1:48,42:90:99:1138,0,1245:127	0|0:49,0:49:99:0,147,3043:127
1	1900232	.	T	C	8549.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=190;MQ=69.86;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16824588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16824588" target="_blank">rs16824588</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1900232">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,27:55:99:661,0,724:127	1|1:0,85:85:99:3175,255,0:127	0|0:50,0:50:99:0,150,1724:127
1	1916890	.	C	T	6714.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3795280;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795280" target="_blank">rs3795280</a>;ExAC.Info.AC=46698;ExAC.Info.AN=125328;ExAC.Info.AF=0.373;ExAC.Info.AC_Het=28239;ExAC.Info.AC_Hom=9159;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1916890">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,19:31:99:538,0,380:127	1|1:0,68:68:99:2230,203,0:127	0|0:49,0:49:99:0,147,1834:127
1	1918488	.	A	G	10824.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4350140;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4350140" target="_blank">rs4350140</a>;ExAC.Info.AC=69664;ExAC.Info.AN=125208;ExAC.Info.AF=0.556;ExAC.Info.AC_Het=29034;ExAC.Info.AC_Hom=19883;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1918488">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,40:80:99:1125,0,1129:127	1|1:0,101:101:99:3554,303,0:127	0|0:104,0:104:99:0,313,3561:127
1	1918535	.	A	T	8575.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4535948;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4535948" target="_blank">rs4535948</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1918535">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,36:69:99:982,0,995:127	1|1:0,78:78:99:2756,234,0:127	0|0:88,0:88:99:0,264,3145:127
1	1920434	.	T	TA	2261.37	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=70.09;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1920434">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,11:41:99:137,0,556:56	1|0:11,46:57:60:845,0,60:56	0|0:35,2:37:59:0,59,765:56
1	1922303	.	C	T	11442.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs13303195;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13303195" target="_blank">rs13303195</a>;ExAC.Info.AC=72070;ExAC.Info.AN=125150;ExAC.Info.AF=0.576;ExAC.Info.AC_Het=29194;ExAC.Info.AC_Hom=21205;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf222" target="_blank">C1orf222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf222+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1922303">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,30:84:99:855,0,1692:127	1|1:0,121:121:99:4199,363,0:127	0|0:102,0:102:99:0,306,3514:127
1	1956362	.	G	A	43072.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=634;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2376805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2376805" target="_blank">rs2376805</a>;ExAC.Info.AC=101369;ExAC.Info.AN=126190;ExAC.Info.AF=0.803;ExAC.Info.AC_Het=19318;ExAC.Info.AC_Hom=40123;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.69-19G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.69G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.69G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.69G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.69G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.69G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.69G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.69G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378585;SAVANT_GENE=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;SAVANT_INFO=+/11.4kb/9/1.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.69-19G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GABRD+c.69-19G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1956362">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,209:209:99:7275,628,0:127	1|1:0,224:224:99:7907,673,0:127	1|0:110,91:201:99:2577,0,3006:127
1	1957037	.	T	C	36435.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=702;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2229110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229110" target="_blank">rs2229110</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=74701;ExAC.Info.AN=126216;ExAC.Info.AF=0.592;ExAC.Info.AC_Het=28151;ExAC.Info.AC_Hom=22805;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330T>C;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330T>C;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330T>C;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330T>C;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330T>C;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330T>C;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330T>C;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly110Gly/c.330T>C;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378585;SAVANT_GENE=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;SAVANT_INFO=+/11.4kb/9/1.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.330T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GABRD+c.330T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1957037">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,205:205:99:7193,615,0:127	1|0:142,130:272:99:3828,0,3805:127	1|0:116,109:225:99:3194,0,3074:127
1	1960674	.	C	T	2128.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs28408173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28408173" target="_blank">rs28408173</a>;ExAC.Info.AC=19133;ExAC.Info.AN=121474;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=8043;ExAC.Info.AC_Hom=1348;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser272Ser/c.816C>T;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378585;SAVANT_GENE=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;SAVANT_INFO=+/11.4kb/9/1.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.816C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GABRD+c.816C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1960674">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,273,2889:127	0|1:43,40:83:99:1083,0,1234:127	0|0:80,0:80:99:0,240,2922:127
1	1961408	.	C	T	2890.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs28431879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28431879" target="_blank">rs28431879</a>;ExAC.Info.AC=22772;ExAC.Info.AN=126026;ExAC.Info.AF=0.181;ExAC.Info.AC_Het=16963;ExAC.Info.AC_Hom=2748;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1060-14C>T;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1060C>T;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1060C>T;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378585;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378585;SAVANT_GENE=GABRD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRD" target="_blank">GABRD</a>;SAVANT_INFO=+/11.4kb/9/1.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1060-14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GABRD+c.1060-14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:1961408">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,233,2836:127	0|1:55,51:106:99:1464,0,1625:127	0|0:90,0:90:99:0,271,3280:127
1	2005740	.	T	C	8506.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2459986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2459986" target="_blank">rs2459986</a>;ExAC.Info.AC=23181;ExAC.Info.AN=28092;ExAC.Info.AF=0.825;ExAC.Info.AC_Het=1394;ExAC.Info.AC_Hom=6780;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.334+14710T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_SQSTM1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_SQSTM1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_SQSTM1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_SQSTM1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378567;SAVANT_GENE=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;SAVANT_INFO=+/134.9kb/18/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.334+14710T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKCZ+c.334+14710T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2005740">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1085,96,0:101	1|1:0,34:34:99:1185,102,0:101	1|1:0,41:41:99:1353,123,0:101
1	2087557	.	T	C	1488.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3123592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3123592" target="_blank">rs3123592</a>;ExAC.Info.AC=11278;ExAC.Info.AN=126690;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=10082;ExAC.Info.AC_Hom=574;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.974+26T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.975T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.975T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.975T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.975T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.975T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.975T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.975T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.975T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378567;SAVANT_GENE=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;SAVANT_INFO=+/134.9kb/18/2.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.974+26T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKCZ+c.974+26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2087557">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2326:127	0|0:70,0:70:99:0,210,2267:127	0|1:32,26:58:99:763,0,913:127
1	2113272	.	T	G	281.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=743;ExAC.Info.AN=18676;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=541;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2221A>C;snpeff.Gene_Name=RP11-181G12.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G122" target="_blank">RP11-181G122</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000536678;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1576-2750T>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G122" target="_blank">RP11-181G122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1576T>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G122" target="_blank">RP11-181G122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1576T>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G122" target="_blank">RP11-181G122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1576T>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G122" target="_blank">RP11-181G122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378567;SAVANT_GENE=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;SAVANT_INFO=+/134.9kb/18/2.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1576-2750T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKCZ+c.1576-2750T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2113272">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,8:22:57:57,0,316:43	0/1:11,11:22:45:45,0,264:43	0/1:15,7:22:51:51,0,410:43
1	2113497	.	G	A	2210.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72637873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72637873" target="_blank">rs72637873</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1996C>T;snpeff.Gene_Name=RP11-181G12.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G122" target="_blank">RP11-181G122</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000536678;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1576-2525G>A;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G122" target="_blank">RP11-181G122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1576G>A;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G122" target="_blank">RP11-181G122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1576G>A;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G122" target="_blank">RP11-181G122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1576G>A;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G122" target="_blank">RP11-181G122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378567;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378567;SAVANT_GENE=PRKCZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCZ" target="_blank">PRKCZ</a>;SAVANT_INFO=+/134.9kb/18/2.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1576-2525G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKCZ+c.1576-2525G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2113497">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,3115:127	0|0:119,0:119:99:0,358,4387:127	0|1:55,39:94:99:1124,0,1654:127
1	2117558	.	C	T	420.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3123595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3123595" target="_blank">rs3123595</a>;ExAC.Info.AC=1609;ExAC.Info.AN=18670;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=1249;ExAC.Info.AC_Hom=90;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf86" target="_blank">C1orf86</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf86" target="_blank">C1orf86</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf86+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2117558">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,805:72	0|0:50,0:50:99:0,150,1680:72	0|1:8,8:16:99:229,0,240:72
1	2121118	.	C	T	2496.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=103;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2503701;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2503701" target="_blank">rs2503701</a>;ExAC.Info.AC=82580;ExAC.Info.AN=125296;ExAC.Info.AF=0.659;ExAC.Info.AC_Het=25811;ExAC.Info.AC_Hom=27082;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=30;snpeff.Amino_Acid_Change=c.*30G>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=C1orf86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf86" target="_blank">C1orf86</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378545;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378546;SAVANT_GENE=C1orf86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf86" target="_blank">C1orf86</a>;SAVANT_INFO=-/5.2kb/4/0.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*30G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf86+c.*30G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2121118">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,1130:87	0|1:18,21:39:99:668,0,591:87	0|1:17,18:35:99:600,0,570:87
1	2125172	.	G	A	1308.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1058411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1058411" target="_blank">rs1058411</a>;ExAC.Info.AC=14702;ExAC.Info.AN=123308;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=10966;ExAC.Info.AC_Hom=1470;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro229Ser/c.685C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=C1orf86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf86" target="_blank">C1orf86</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378545;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378546;SAVANT_GENE=C1orf86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf86" target="_blank">C1orf86</a>;SAVANT_INFO=-/5.2kb/4/0.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.376C>T_p.Pro126Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf86+c.376C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2125172">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1765:127	0|0:56,0:56:99:0,168,2168:127	0|1:25,23:48:99:673,0,823:127
1	2125440	.	T	C	2048.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs147283443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147283443" target="_blank">rs147283443</a>;ExAC.Info.AC=72;ExAC.Info.AN=126204;ExAC.Info.AF=5.705e-04;ExAC.Info.AC_Het=71;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly168Gly/c.504A>G;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=C1orf86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf86" target="_blank">C1orf86</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378545;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378546;SAVANT_GENE=C1orf86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf86" target="_blank">C1orf86</a>;SAVANT_INFO=-/5.2kb/4/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.195A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf86+c.195A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2125440">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2482:127	0|0:105,0:105:99:0,315,3623:127	0|1:46,31:77:99:1043,0,1347:127
1	2126139	.	C	G	675.35	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=6;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=./.;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6662296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6662296" target="_blank">rs6662296</a>;ExAC.Info.AC=2264;ExAC.Info.AN=2264;ExAC.Info.AF=1.00;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=25;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.372-567G>C;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=C1orf86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf86" target="_blank">C1orf86</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378545;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378546;SAVANT_GENE=C1orf86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf86" target="_blank">C1orf86</a>;SAVANT_INFO=-/5.2kb/4/0.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.50G>C_p.Arg17Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf86+c.50G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2126139">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,2:2:6:87,6,0:5	1|1:0,4:4:12:129,12,0:5	./.
1	2144788	.	A	G	1876.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs262695;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=262695" target="_blank">rs262695</a>;ExAC.Info.AC=6689;ExAC.Info.AN=32296;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=2620;ExAC.Info.AC_Hom=823;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.122+705A>G;snpeff.Gene_Name=RP11-181G12.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G124" target="_blank">RP11-181G124</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442483;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys78Arg/c.232T>C;snpeff.Amino_Acid_length=217;snpeff.Gene_Name=AL590822.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G124" target="_blank">RP11-181G124</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545087;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545087;SAVANT_GENE=AL590822.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL5908221" target="_blank">AL5908221</a>;SAVANT_INFO=-/2.3kb/1/2.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.232T>C_p.Cys78Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL5908221+c.232T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2144788">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,268,3141:127	0|0:120,0:120:99:0,360,4267:127	0|1:45,36:81:99:957,0,1267:127
1	2144982	.	G	T	3168.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2480714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2480714" target="_blank">rs2480714</a>;ExAC.Info.AC=5068;ExAC.Info.AN=8026;ExAC.Info.AF=0.631;ExAC.Info.AC_Het=12;ExAC.Info.AC_Hom=27;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.122+899G>T;snpeff.Gene_Name=RP11-181G12.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G124" target="_blank">RP11-181G124</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442483;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gAa;snpeff.Amino_Acid_Change=p.Ala13Glu/c.38C>A;snpeff.Amino_Acid_length=217;snpeff.Gene_Name=AL590822.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-181G124" target="_blank">RP11-181G124</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545087;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545087;SAVANT_GENE=AL590822.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL5908221" target="_blank">AL5908221</a>;SAVANT_INFO=-/2.3kb/1/2.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.38C>A_p.Ala13Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL5908221+c.38C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2144982">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1325:108	0|1:23,26:49:99:788,0,684:108	0|1:30,29:59:99:816,0,944:108
1	2286947	.	A	G	13209.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1039100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1039100" target="_blank">rs1039100</a>;ExAC.Info.AC=18211;ExAC.Info.AN=23104;ExAC.Info.AF=0.788;ExAC.Info.AC_Het=2311;ExAC.Info.AC_Hom=6372;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1036+1924T>C;snpeff.Amino_Acid_length=497;snpeff.Gene_Name=MORN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MORN1" target="_blank">MORN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378531;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378531;SAVANT_GENE=MORN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MORN1" target="_blank">MORN1</a>;SAVANT_INFO=-/70.5kb/14/1.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1036+1924T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MORN1+c.1036+1924T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2286947">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2270,198,0:127	1|0:27,43:70:99:1214,0,762:127	1|1:0,68:68:99:2306,204,0:127
1	2303347	.	CA	C	221.69	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=28;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.745+572delT;snpeff.Amino_Acid_length=497;snpeff.Gene_Name=MORN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MORN1" target="_blank">MORN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378531;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000378531;SAVANT_GENE=MORN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MORN1" target="_blank">MORN1</a>;SAVANT_INFO=-/70.5kb/14/1.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.745+572delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MORN1+c.745+572delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2303347">View</a>	GT:AD:DP:GQ:PL:TP	0|1:4,3:7:37:37,0,72:5	1|0:10,6:16:69:69,0,174:5	0|0:4,1:5:4:0,4,83:5
1	2332391	.	C	T	11132.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3)|Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3);dbSNP139.ID=rs12037485;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12037485" target="_blank">rs12037485</a>;ExAC.Info.AC=51766;ExAC.Info.AN=125254;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=29320;ExAC.Info.AC_Hom=11203;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.365+17C>T;snpeff.Amino_Acid_length=196;snpeff.Gene_Name=RER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RER1" target="_blank">RER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000488353;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306256;SAVANT_GENE=RER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RER1" target="_blank">RER1</a>;SAVANT_INFO=+/11.9kb/7/1.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.365+17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RER1+c.365+17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2332391">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,36:78:99:1032,0,1098:127	0|1:66,55:121:99:1514,0,1888:127	1|1:0,70:70:99:2396,210,0:127
1	2337277	.	C	T	8488.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3)|Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3);dbSNP139.ID=rs11586985;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11586985" target="_blank">rs11586985</a>;ExAC.Info.AC=11220;ExAC.Info.AN=124556;ExAC.Info.AF=0.090;ExAC.Info.AC_Het=6996;ExAC.Info.AC_Hom=402;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.973-4G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973C>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973C>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000288774;SAVANT_GENE=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;SAVANT_INFO=-/7.7kb/6/2.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.973-4G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX10+c.973-4G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2337277">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,52:96:99:1478,0,1340:127	1|0:51,68:119:99:2024,0,1574:127	0|0:105,0:105:99:0,316,4057:127
1	2337359	.	C	G	2706.76	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=428;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3)|Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3);dbSNP139.ID=rs72642194;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72642194" target="_blank">rs72642194</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.973-86G>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973C>G;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973C>G;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000288774;SAVANT_GENE=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;SAVANT_INFO=-/7.7kb/6/2.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.973-86G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX10+c.973-86G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2337359">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,405,4605:127	0|0:159,0:159:99:0,478,5493:127	0|1:84,50:134:99:1372,0,2599:127
1	2337388	.	G	T	2420.76	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3)|Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3);dbSNP139.ID=rs72642195;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72642195" target="_blank">rs72642195</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.973-115C>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973G>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973G>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000288774;SAVANT_GENE=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;SAVANT_INFO=-/7.7kb/6/2.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.973-115C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX10+c.973-115C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2337388">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,336,3690:127	0|0:117,0:117:99:0,352,4225:127	0|1:59,42:101:99:1229,0,1937:127
1	2338126	.	C	A	8302.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3)|Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3);dbSNP139.ID=rs3795269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795269" target="_blank">rs3795269</a>;ExAC.Info.AC=49529;ExAC.Info.AN=126026;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=26925;ExAC.Info.AC_Hom=9146;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.836+33G>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000288774;SAVANT_GENE=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;SAVANT_INFO=-/7.7kb/6/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.836+33G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX10+c.836+33G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2338126">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,37:72:99:962,0,926:127	0|1:35,37:72:99:991,0,876:127	1|1:0,55:55:99:1823,164,0:127
1	2340073	.	C	G	3345.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3)|Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76530653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76530653" target="_blank">rs76530653</a>;ExAC.Info.AC=40;ExAC.Info.AN=125898;ExAC.Info.AF=3.177e-04;ExAC.Info.AC_Het=38;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Cgg;snpeff.Amino_Acid_Change=p.Gly140Arg/c.418G>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000288774;SAVANT_GENE=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;SAVANT_INFO=-/7.7kb/6/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.418G>C_p.Gly140Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX10+c.418G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2340073">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,20:38:99:615,0,606:123	0|0:41,0:41:99:0,123,1589:123	1|0:15,18:33:99:588,0,528:123
1	2340200	.	T	C	12743.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3)|Peroxisome_biogenesis_disorder_6A_(Zellweger)|_614870_(3)|_Peroxisome_biogenesis_disorder_6B|_614871_(3);dbSNP139.ID=rs2494598;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2494598" target="_blank">rs2494598</a>;ExAC.Info.AC=97607;ExAC.Info.AN=126652;ExAC.Info.AF=0.771;ExAC.Info.AC_Het=21544;ExAC.Info.AC_Hom=37654;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000117902;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr97Thr/c.291A>G;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288774;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000288774;SAVANT_GENE=PEX10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX10" target="_blank">PEX10</a>;SAVANT_INFO=-/7.7kb/6/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.291A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX10+c.291A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2340200">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000117902" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:26,41:67:99:1184,0,691:127	0|1:47,48:95:99:1230,0,1250:127	1|1:1,98:99:99:3214,259,0:127
1	2399119	.	A	G	1264.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2494632;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2494632" target="_blank">rs2494632</a>;ExAC.Info.AC=2799;ExAC.Info.AN=7660;ExAC.Info.AF=0.365;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=9;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCH2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2399119">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,2144:95	0|0:32,0:32:96:0,96,1628:95	0|1:12,18:30:99:651,0,515:95
1	2399149	.	A	G	1114.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2494631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2494631" target="_blank">rs2494631</a>;ExAC.Info.AC=1765;ExAC.Info.AN=6744;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=6;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCH2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2399149">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,2079:98	0|0:32,0:32:99:0,99,1680:98	0|1:9,13:22:99:576,0,434:98
1	2409892	.	A	G	4034.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=136;MQ=69.84;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12727342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12727342" target="_blank">rs12727342</a>;ExAC.Info.AC=78484;ExAC.Info.AN=122870;ExAC.Info.AF=0.639;ExAC.Info.AC_Het=26015;ExAC.Info.AC_Hom=25675;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125-23A>G;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_plasma_membrane_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>G;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_plasma_membrane_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>G;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_plasma_membrane_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>G;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378486;SAVANT_GENE=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;SAVANT_INFO=+/29.2kb/22/4.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.125-23A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCH2+c.125-23A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2409892">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,14:30:99:394,0,508:127	0/1:26,27:53:99:753,0,653:127	0/1:30,23:53:99:579,0,830:127
1	2411451	.	A	G	5188.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10797428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797428" target="_blank">rs10797428</a>;ExAC.Info.AC=76320;ExAC.Info.AN=122054;ExAC.Info.AF=0.625;ExAC.Info.AC_Het=26029;ExAC.Info.AC_Hom=23066;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.515+35A>G;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516A>G;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516A>G;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378486;SAVANT_GENE=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;SAVANT_INFO=+/29.2kb/22/4.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.515+35A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCH2+c.515+35A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2411451">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,29:51:99:797,0,679:127	0/1:40,28:68:99:799,0,1240:127	0/1:26,19:45:99:587,0,800:127
1	2422614	.	G	A	3954.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2477699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2477699" target="_blank">rs2477699</a>;ExAC.Info.AC=90704;ExAC.Info.AN=124052;ExAC.Info.AF=0.731;ExAC.Info.AC_Het=21504;ExAC.Info.AC_Hom=30752;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1516-17G>A;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378486;SAVANT_GENE=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;SAVANT_INFO=+/29.2kb/22/4.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1516-17G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCH2+c.1516-17G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2422614">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,16:28:99:445,0,360:127	0/1:23,26:49:99:737,0,747:127	0/1:14,19:33:99:516,0,404:127
1	2430118	.	T	G	136.98	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=152;ExAC.Info.AN=117298;ExAC.Info.AF=1.296e-03;ExAC.Info.AC_Het=70;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2349+32T>G;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2350T>G;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2350T>G;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2350T>G;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378486;SAVANT_GENE=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;SAVANT_INFO=+/29.2kb/22/4.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2349+32T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCH2+c.2349+32T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2430118">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,8:18:26:26,0,261:17	0/1:14,6:20:18:18,0,411:17	0/1:8,6:14:56:56,0,247:17
1	2430617	.	C	T	2840.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2296442;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296442" target="_blank">rs2296442</a>;ExAC.Info.AC=53639;ExAC.Info.AN=125244;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=29400;ExAC.Info.AC_Hom=11672;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2529C>T;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2529C>T;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2529C>T;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile843Ile/c.2529C>T;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378486;SAVANT_GENE=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;SAVANT_INFO=+/29.2kb/22/4.8kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2529C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCH2+c.2529C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2430617">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,2:103:99:0,231,3244:127	0|1:52,54:106:99:1439,0,1520:127	0|0:97,0:97:99:0,291,3133:127
1	2433894	.	G	A	4732.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55874156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55874156" target="_blank">rs55874156</a>;ExAC.Info.AC=322;ExAC.Info.AN=38506;ExAC.Info.AF=8.362e-03;ExAC.Info.AC_Het=224;ExAC.Info.AC_Hom=5;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2959+46G>A;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378486;SAVANT_GENE=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;SAVANT_INFO=+/29.2kb/22/4.8kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2959+46G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCH2+c.2959+46G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2433894">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,29:55:99:808,0,1020:127	1|0:36,37:73:99:1119,0,1398:127	0|0:56,0:56:99:0,168,2180:127
1	2433900	.	C	T	6099.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12736998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12736998" target="_blank">rs12736998</a>;ExAC.Info.AC=9303;ExAC.Info.AN=29014;ExAC.Info.AF=0.321;ExAC.Info.AC_Het=2897;ExAC.Info.AC_Hom=1216;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2959+52C>T;snpeff.Amino_Acid_length=1416;snpeff.Gene_Name=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378486;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378486;SAVANT_GENE=PLCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCH2" target="_blank">PLCH2</a>;SAVANT_INFO=+/29.2kb/22/4.8kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2959+52C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCH2+c.2959+52C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2433900">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,27:56:99:782,0,1154:127	0/1:37,35:72:99:1010,0,1434:127	0/1:27,31:58:99:860,0,721:127
1	2444414	.	G	A	5018.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7535528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7535528" target="_blank">rs7535528</a>;ExAC.Info.AC=39267;ExAC.Info.AN=125990;ExAC.Info.AF=0.312;ExAC.Info.AC_Het=25557;ExAC.Info.AC_Hom=6626;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala547Val/c.1640C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=PANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK4" target="_blank">PANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378466;SAVANT_GENE=PANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK4" target="_blank">PANK4</a>;SAVANT_INFO=-/18.1kb/19/2.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1640C>T_p.Ala547Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PANK4+c.1640C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2444414">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,23:47:99:613,0,634:127	0/1:38,28:66:99:743,0,947:127	0/1:17,26:43:99:663,0,493:127
1	2451298	.	G	A	1286.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34724650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34724650" target="_blank">rs34724650</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=195;ExAC.Info.AN=121458;ExAC.Info.AF=1.605e-03;ExAC.Info.AC_Het=100;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu265Leu/c.795C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=PANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK4" target="_blank">PANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378466;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378466;SAVANT_GENE=PANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK4" target="_blank">PANK4</a>;SAVANT_INFO=-/18.1kb/19/2.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.795C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PANK4+c.795C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2451298">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1531:125	0|0:60,0:60:99:0,180,2136:125	0|1:17,23:40:99:662,0,488:125
1	2487663	.	C	A	11154.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2227312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227312" target="_blank">rs2227312</a>;ExAC.Info.AC=6581;ExAC.Info.AN=16638;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=516;ExAC.Info.AC_Hom=266;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP3-395M20.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0138.2:Nrsf];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2487663">View</a>	GT:AD:DP:GQ:PL:TP	0/1:57,53:110:99:1305,0,1508:127	0/1:86,74:160:99:1966,0,2309:127	0/1:55,45:100:99:1272,0,1599:127
1	2487766	.	T	C	8163.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2227313;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227313" target="_blank">rs2227313</a>;ExAC.Info.AC=8282;ExAC.Info.AN=18114;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=2671;ExAC.Info.AC_Hom=1972;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP3-395M20.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2487766">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,31:75:99:836,0,1327:127	0/1:56,49:105:99:1310,0,1703:127	0/1:43,38:81:99:1125,0,1219:127
1	2488153	.	A	G	3737.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4870" target="_blank">rs4870</a>;ExAC.Info.AC=64034;ExAC.Info.AN=125770;ExAC.Info.AF=0.509;ExAC.Info.AC_Het=28192;ExAC.Info.AC_Hom=15530;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP3-395M20.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-395M208" target="_blank">RP3-395M208</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50A>G;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-395M208" target="_blank">RP3-395M208</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50A>G;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-395M208" target="_blank">RP3-395M208</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys17Arg/c.50A>G;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-395M208" target="_blank">RP3-395M208</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355716;SAVANT_GENE=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;SAVANT_INFO=+/7.5kb/8/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.50A>G_p.Lys17Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF14+c.50A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2488153">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,13:25:99:428,0,335:127	0/1:13,25:38:99:827,0,372:127	0/1:10,13:23:99:434,0,316:127
1	2490898	.	C	A	10621.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2257763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2257763" target="_blank">rs2257763</a>;ExAC.Info.AC=10236;ExAC.Info.AN=19960;ExAC.Info.AF=0.513;ExAC.Info.AC_Het=3130;ExAC.Info.AC_Hom=2409;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000119906;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.305-364C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355716;SAVANT_GENE=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;SAVANT_INFO=+/7.5kb/8/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.305-364C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF14+c.305-364C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2490898">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000119906" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	0/1:51,57:108:99:1491,0,1468:127	0/1:69,58:127:99:1594,0,1953:127	0/1:69,58:127:99:1683,0,2009:127
1	2490942	.	C	A	11284.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2281852;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281852" target="_blank">rs2281852</a>;ExAC.Info.AC=9548;ExAC.Info.AN=20866;ExAC.Info.AF=0.458;ExAC.Info.AC_Het=3189;ExAC.Info.AC_Hom=2261;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000119908;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.305-320C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355716;SAVANT_GENE=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;SAVANT_INFO=+/7.5kb/8/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.305-320C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF14+c.305-320C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2490942">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000119908" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	0/1:50,48:98:99:1346,0,1336:127	0/1:56,61:117:99:1762,0,1607:127	0/1:57,64:121:99:1917,0,1519:127
1	2491205	.	C	T	6344.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2234161;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234161" target="_blank">rs2234161</a>;ExAC.Info.AC=56057;ExAC.Info.AN=113838;ExAC.Info.AF=0.492;ExAC.Info.AC_Het=10550;ExAC.Info.AC_Hom=8439;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000119916;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.305-57C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355716;SAVANT_GENE=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;SAVANT_INFO=+/7.5kb/8/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.305-57C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF14+c.305-57C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2491205">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000119916" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	0/1:29,23:52:99:718,0,925:127	0/1:34,31:65:99:963,0,1045:127	0/1:26,20:46:99:681,0,817:127
1	2494330	.	G	A	7608.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2234167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234167" target="_blank">rs2234167</a>;ExAC.Info.AC=16280;ExAC.Info.AN=126574;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=13942;ExAC.Info.AC_Hom=1119;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000122170;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721G>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721G>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721G>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val241Ile/c.721G>A;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355716;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355716;SAVANT_GENE=TNFRSF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF14" target="_blank">TNFRSF14</a>;SAVANT_INFO=+/7.5kb/8/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.721G>A_p.Val241Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF14+c.721G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2494330">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000122170" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	0|1:56,48:104:99:1237,0,1583:127	1|0:71,61:132:99:1518,0,2006:127	0|0:70,0:70:99:0,210,2481:127
1	2520302	.	T	C	1384.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6667564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6667564" target="_blank">rs6667564</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.605-91T>C;snpeff.Amino_Acid_length=231;snpeff.Gene_Name=FAM213B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM213B" target="_blank">FAM213B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378424;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419916;SAVANT_GENE=C1orf93;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf93" target="_blank">C1orf93</a>;SAVANT_INFO=+/4.7kb/7/2.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.551-59T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf93+c.551-59T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2520302">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,161,1740:127	0|0:58,0:58:99:0,174,2055:127	0|1:21,23:44:99:711,0,641:127
1	2522392	.	G	A	4449.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2296443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296443" target="_blank">rs2296443</a>;ExAC.Info.AC=27790;ExAC.Info.AN=120022;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=9296;ExAC.Info.AC_Hom=1947;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=37;snpeff.Amino_Acid_Change=c.*37C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1539;snpeff.Amino_Acid_Change=c.*1539G>A;snpeff.Amino_Acid_length=231;snpeff.Gene_Name=FAM213B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378424;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378412:ENST00000419916;SAVANT_GENE=MMEL1:C1orf93;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1:C1orf93" target="_blank">MMEL1:C1orf93</a>;SAVANT_INFO=-/42.3kb/24/2.8kb:+/4.7kb/7/2.7kb;SAVANT_LOC=3UTR:3UTR;SAVANT_HGVS=c.*37C>T:c.*1526G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1:C1orf93+c.*37C>T:c.*1526G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2522392">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,16:34:99:451,0,508:127	0/1:22,23:45:99:712,0,652:127	0/1:13,23:36:99:720,0,388:127
1	2524205	.	C	T	4152.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=512;MQ=69.90;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs745368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=745368" target="_blank">rs745368</a>;ExAC.Info.AC=48705;ExAC.Info.AN=126308;ExAC.Info.AF=0.386;ExAC.Info.AC_Het=28014;ExAC.Info.AC_Hom=9931;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2002-46G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378412;SAVANT_GENE=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;SAVANT_INFO=-/42.3kb/24/2.8kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2002-46G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1+c.2002-46G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2524205">View</a>	GT:AD:DP:GQ:PL:TP	0|0:156,0:156:99:0,469,5513:127	0|0:198,0:198:99:0,595,7268:127	0|1:86,72:158:99:2095,0,2676:127
1	2526746	.	A	G	1946.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748816" target="_blank">rs3748816</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Primary_biliary_cirrhosis|_association_with;hgmd_2014.2.PubMed=20639879;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20639879" target="_blank">20639879</a>;ExAC.Info.AC=52244;ExAC.Info.AN=126664;ExAC.Info.AF=0.412;ExAC.Info.AC_Het=28760;ExAC.Info.AC_Hom=11593;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" 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target="_blank">MMEL1</a>;SAVANT_INFO=-/42.3kb/24/2.8kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1553T>C_p.Met518Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1+c.1553T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2526746">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,303,3241:127	0|0:126,0:126:99:0,378,4357:127	0|1:55,38:93:99:992,0,1598:127
1	2528133	.	T	C	18088.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2843401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2843401" target="_blank">rs2843401</a>;ExAC.Info.AC=76872;ExAC.Info.AN=126252;ExAC.Info.AF=0.609;ExAC.Info.AC_Het=27913;ExAC.Info.AC_Hom=23622;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1273-5A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1273A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378412;SAVANT_GENE=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;SAVANT_INFO=-/42.3kb/24/2.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1273-5A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1+c.1273-5A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2528133">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:2772,257,0:127	1|1:0,91:91:99:3107,273,0:127	1|0:52,49:101:99:1302,0,1450:127
1	2535613	.	C	A	1064.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs4648562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648562" target="_blank">rs4648562</a>;ExAC.Info.AC=48324;ExAC.Info.AN=125978;ExAC.Info.AF=0.384;ExAC.Info.AC_Het=27812;ExAC.Info.AC_Hom=9835;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924C>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtT;snpeff.Amino_Acid_Change=p.Val308Val/c.924G>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378412;SAVANT_GENE=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;SAVANT_INFO=-/42.3kb/24/2.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.924G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1+c.924G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2535613">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2171:127	0|0:72,0:72:99:0,216,2558:127	0|1:30,20:50:99:551,0,1005:127
1	2535758	.	A	G	1940.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4648652;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648652" target="_blank">rs4648652</a>;ExAC.Info.AC=51044;ExAC.Info.AN=125598;ExAC.Info.AF=0.406;ExAC.Info.AC_Het=27227;ExAC.Info.AC_Hom=10871;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.817-38T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" 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target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378412;SAVANT_GENE=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;SAVANT_INFO=-/42.3kb/24/2.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.817-38T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1+c.817-38T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2535758">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2360:127	0|0:81,0:81:99:0,243,2894:127	0|1:38,36:74:99:989,0,1118:127
1	2537095	.	G	A	1534.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs78506337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78506337" target="_blank">rs78506337</a>;ExAC.Info.AC=48819;ExAC.Info.AN=125786;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=27709;ExAC.Info.AC_Hom=9921;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.751-33C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.751G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378412;SAVANT_GENE=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;SAVANT_INFO=-/42.3kb/24/2.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.751-33C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1+c.751-33C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2537095">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1577:127	0|0:69,0:69:99:0,207,2603:127	0|1:23,27:50:99:786,0,669:127
1	2537838	.	C	T	1348.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41300092;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41300092" target="_blank">rs41300092</a>;ExAC.Info.AC=46629;ExAC.Info.AN=125282;ExAC.Info.AF=0.372;ExAC.Info.AC_Het=25723;ExAC.Info.AC_Hom=8495;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.632-33G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378412;SAVANT_GENE=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;SAVANT_INFO=-/42.3kb/24/2.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.632-33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1+c.632-33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2537838">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1691:127	0|0:61,0:61:99:0,183,2114:127	0|1:31,23:54:99:693,0,1019:127
1	2541269	.	A	G	2652.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=409;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10797440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797440" target="_blank">rs10797440</a>;ExAC.Info.AC=51298;ExAC.Info.AN=126600;ExAC.Info.AF=0.405;ExAC.Info.AC_Het=28123;ExAC.Info.AC_Hom=10955;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala98Ala/c.294T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378412;SAVANT_GENE=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;SAVANT_INFO=-/42.3kb/24/2.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.294T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1+c.294T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2541269">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,405,4598:127	0|0:143,0:143:99:0,430,5169:127	0|1:82,49:131:99:1345,0,2428:127
1	2542653	.	A	G	1770.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10910111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10910111" target="_blank">rs10910111</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.292+67T>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293A>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378412;SAVANT_GENE=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;SAVANT_INFO=-/42.3kb/24/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.292+67T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1+c.292+67T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2542653">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,183,1752:127	0|0:63,0:63:99:0,189,1990:127	0|1:23,29:52:99:904,0,625:127
1	2560882	.	G	A	16268.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4648658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648658" target="_blank">rs4648658</a>;ExAC.Info.AC=22698;ExAC.Info.AN=44776;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=4501;ExAC.Info.AC_Hom=3324;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.42G>A;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala14Ala/c.42C>T;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378412;SAVANT_GENE=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;SAVANT_INFO=-/42.3kb/24/2.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.42C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1+c.42C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2560882">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:2002,138,0:127	1|1:0,65:65:99:2871,196,0:127	1|0:15,24:39:99:920,0,796:127
1	2560903	.	T	G	18043.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4648659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648659" target="_blank">rs4648659</a>;ExAC.Info.AC=21897;ExAC.Info.AN=39948;ExAC.Info.AF=0.548;ExAC.Info.AC_Het=4287;ExAC.Info.AC_Hom=3243;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.21T>G;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro7Pro/c.21A>C;snpeff.Amino_Acid_length=779;snpeff.Gene_Name=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378412;SAVANT_GENE=MMEL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMEL1" target="_blank">MMEL1</a>;SAVANT_INFO=-/42.3kb/24/2.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.21A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMEL1+c.21A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2560903">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2384,174,0:127	1|1:0,69:69:99:3003,207,0:127	1|0:14,26:40:99:962,0,786:127
1	2573199	.	A	G	11725.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4648662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648662" target="_blank">rs4648662</a>;ExAC.Info.AC=15093;ExAC.Info.AN=17206;ExAC.Info.AF=0.877;ExAC.Info.AC_Het=1143;ExAC.Info.AC_Hom=5338;snpeff.Effect=sequence_feature[repeat:TPR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1309A>G;snpeff.Amino_Acid_length=566;snpeff.Gene_Name=TTC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC34" target="_blank">TTC34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401095;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu437Leu/c.1309T>C;snpeff.Amino_Acid_length=566;snpeff.Gene_Name=TTC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC34" target="_blank">TTC34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401095;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401094;SAVANT_GENE=TTC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC34" target="_blank">TTC34</a>;SAVANT_INFO=-/138.9kb/9/2.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1309T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC34+c.1309T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2573199">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1690,141,0:127	1|1:0,65:65:99:2185,195,0:127	1|0:28,22:50:99:603,0,779:127
1	2576908	.	A	G	302.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72646028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72646028" target="_blank">rs72646028</a>;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile261Thr/c.782T>C;snpeff.Amino_Acid_length=566;snpeff.Gene_Name=TTC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC34" target="_blank">TTC34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401095;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401094;SAVANT_GENE=TTC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC34" target="_blank">TTC34</a>;SAVANT_INFO=-/138.9kb/9/2.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.782T>C_p.Ile261Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC34+c.782T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2576908">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1057:74	0|0:25,0:25:75:0,75,893:74	0|1:12,6:18:99:170,0,374:74
1	2938265	.	C	T	2589.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4576609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4576609" target="_blank">rs4576609</a>;ExAC.Info.AC=24132;ExAC.Info.AN=126688;ExAC.Info.AF=0.190;ExAC.Info.AC_Het=18383;ExAC.Info.AC_Hom=2824;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His5His/c.15C>T;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378404;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378404;SAVANT_GENE=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;SAVANT_INFO=+/1.4kb/1/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.15C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTRT2+c.15C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2938265">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,4:16:99:100,0,432:86	1|0:18,27:45:99:866,0,547:86	0|0:29,0:29:87:0,87,1096:86
1	2938407	.	CAGA	C	11185.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4013154;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4013154" target="_blank">rs4013154</a>;ExAC.Info.AC=19619;ExAC.Info.AN=126662;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=15723;ExAC.Info.AC_Hom=1872;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=cagaag/cag;snpeff.Amino_Acid_Change=p.Gln53_Lys54del/c.158_160delAGA;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378404;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000378404;SAVANT_GENE=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;SAVANT_INFO=+/1.4kb/1/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.163_165delAAG_p.Lys55del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTRT2+c.163_165delAAG+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2938407">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,50:92:99:1927,0,1621:127	1|0:67,59:126:99:2256,0,2684:127	0|0:109,0:109:99:0,328,4945:127
1	2938569	.	C	T	12129.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=532;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs35806103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35806103" target="_blank">rs35806103</a>;ExAC.Info.AC=2225;ExAC.Info.AN=126686;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2099;ExAC.Info.AC_Hom=62;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu107Leu/c.319C>T;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378404;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378404;SAVANT_GENE=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;SAVANT_INFO=+/1.4kb/1/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.319C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTRT2+c.319C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2938569">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,92:158:99:2473,0,1769:127	0|0:210,0:210:99:0,630,7155:127	1|0:85,79:164:99:2232,0,2378:127
1	2938697	.	T	G	5605.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3795262;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795262" target="_blank">rs3795262</a>;ExAC.Info.AC=24212;ExAC.Info.AN=126594;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=18495;ExAC.Info.AC_Hom=2825;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcG;snpeff.Amino_Acid_Change=p.Ser149Ser/c.447T>G;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378404;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378404;SAVANT_GENE=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;SAVANT_INFO=+/1.4kb/1/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.447T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTRT2+c.447T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2938697">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,41:79:99:1135,0,1143:127	1|0:56,36:92:99:956,0,1609:127	0|0:93,0:93:99:0,280,3287:127
1	2938924	.	T	G	8924.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72629486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72629486" target="_blank">rs72629486</a>;ExAC.Info.AC=1742;ExAC.Info.AN=126256;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1637;ExAC.Info.AC_Hom=40;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTg/tGg;snpeff.Amino_Acid_Change=p.Leu225Trp/c.674T>G;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378404;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378404;SAVANT_GENE=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;SAVANT_INFO=+/1.4kb/1/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.674T>G_p.Leu225Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTRT2+c.674T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2938924">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,54:103:99:1587,0,1420:127	0|0:171,0:171:99:0,513,5941:127	1|0:56,64:120:99:1800,0,1528:127
1	2938989	.	G	A	3546.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795263" target="_blank">rs3795263</a>;ExAC.Info.AC=21929;ExAC.Info.AN=125972;ExAC.Info.AF=0.174;ExAC.Info.AC_Het=17019;ExAC.Info.AC_Hom=2263;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly247Arg/c.739G>A;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378404;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378404;SAVANT_GENE=ACTRT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTRT2" target="_blank">ACTRT2</a>;SAVANT_INFO=+/1.4kb/1/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.739G>A_p.Gly247Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTRT2+c.739G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2938989">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2290:127	0|1:55,55:110:99:1792,0,1771:127	0|0:67,1:68:99:0,166,2498:127
1	2983963	.	G	A	11551.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2297828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297828" target="_blank">rs2297828</a>;ExAC.Info.AC=4523;ExAC.Info.AN=17610;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=2719;ExAC.Info.AC_Hom=682;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.866C>T;snpeff.Gene_Name=LINC00982;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00982" target="_blank">LINC00982</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445317;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00982" target="_blank">LINC00982</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=LINC00982+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:2983963">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,39:77:99:970,0,1080:127	0/1:55,57:112:99:1665,0,1538:127	0/1:46,59:105:99:1682,0,1424:127
1	3044652	.	C	T	5467.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3)|Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3);dbSNP139.ID=rs35529420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35529420" target="_blank">rs35529420</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.38-58037C>T;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270722;SAVANT_GENE=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;SAVANT_INFO=+/369.4kb/17/8.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.38-58037C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM16+c.38-58037C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3044652">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,31:71:99:861,0,1157:127	0|0:102,0:102:99:0,306,3442:127	1|0:34,32:66:99:961,0,940:127
1	3301721	.	C	T	2674.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3)|Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3);dbSNP139.ID=rs2282198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282198" target="_blank">rs2282198</a>;ExAC.Info.AC=40869;ExAC.Info.AN=125626;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=24897;ExAC.Info.AC_Hom=7828;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser148Ser/c.444C>T;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270722;SAVANT_GENE=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;SAVANT_INFO=+/369.4kb/17/8.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.444C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM16+c.444C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3301721">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,298,3609:127	0|1:73,50:123:99:1356,0,2254:127	0|0:94,0:94:99:0,283,3449:127
1	3312914	.	T	G	3418.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3)|Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3);dbSNP139.ID=rs871822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=871822" target="_blank">rs871822</a>;ExAC.Info.AC=11507;ExAC.Info.AN=43774;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=4718;ExAC.Info.AC_Hom=1921;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.577-141T>G;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270722;SAVANT_GENE=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;SAVANT_INFO=+/369.4kb/17/8.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.574-141T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM16+c.574-141T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3312914">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,384,4270:127	0|1:92,61:153:99:1728,0,2659:127	0|0:142,0:142:99:0,429,4879:127
1	3312963	.	C	T	7593.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3)|Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3);dbSNP139.ID=rs12726710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12726710" target="_blank">rs12726710</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.577-92C>T;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270722;SAVANT_GENE=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;SAVANT_INFO=+/369.4kb/17/8.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.574-92C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM16+c.574-92C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3312963">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,47:90:99:1435,0,1339:127	0|0:120,0:120:99:0,361,4072:127	1|0:46,48:94:99:1514,0,1303:127
1	3328358	.	T	C	30268.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3)|Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs870124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=870124" target="_blank">rs870124</a>;ExAC.Info.AC=111210;ExAC.Info.AN=125064;ExAC.Info.AF=0.889;ExAC.Info.AC_Het=11715;ExAC.Info.AC_Hom=49339;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600T>C;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcg/Ccg;snpeff.Amino_Acid_Change=p.Ser534Pro/c.1600T>C;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270722;SAVANT_GENE=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;SAVANT_INFO=+/369.4kb/17/8.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1597T>C_p.Ser533Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM16+c.1597T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3328358">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3914,339,0:127	1|1:0,148:148:99:5468,444,0:127	1|1:0,104:104:99:3658,312,0:127
1	3328659	.	C	T	14002.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=646;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3)|Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2493292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2493292" target="_blank">rs2493292</a>;ExAC.Info.AC=15772;ExAC.Info.AN=125534;ExAC.Info.AF=0.126;ExAC.Info.AC_Het=12818;ExAC.Info.AC_Hom=1210;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro634Leu/c.1901C>T;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270722;SAVANT_GENE=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;SAVANT_INFO=+/369.4kb/17/8.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1898C>T_p.Pro633Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM16+c.1898C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3328659">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,116:203:99:3305,0,2636:127	0|0:237,1:238:99:0,678,8823:127	1|0:110,95:205:99:2814,0,3280:127
1	3329213	.	G	A	4402.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3)|Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|P|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201904226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201904226" target="_blank">rs201904226</a>;ExAC.Info.AC=215;ExAC.Info.AN=116156;ExAC.Info.AF=1.851e-03;ExAC.Info.AC_Het=148;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly819Ser/c.2455G>A;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270722;SAVANT_GENE=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;SAVANT_INFO=+/369.4kb/17/8.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2452G>A_p.Gly818Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM16+c.2452G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3329213">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,238,2932:127	0|1:40,72:112:99:2220,0,1224:127	0|0:87,0:87:99:0,262,3261:127
1	3329384	.	C	T	2795.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3)|Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3);dbSNP139.ID=rs2493291;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2493291" target="_blank">rs2493291</a>;ExAC.Info.AC=6924;ExAC.Info.AN=100550;ExAC.Info.AF=0.069;ExAC.Info.AC_Het=838;ExAC.Info.AC_Hom=88;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2606+20C>T;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270722;SAVANT_GENE=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;SAVANT_INFO=+/369.4kb/17/8.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.2603+20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM16+c.2603+20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3329384">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,31:49:99:799,0,519:127	0|0:57,0:57:99:0,171,2019:127	1|0:19,13:32:99:367,0,642:127
1	3342109	.	G	T	7621.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3)|Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3);dbSNP139.ID=rs41303861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41303861" target="_blank">rs41303861</a>;ExAC.Info.AC=21428;ExAC.Info.AN=125210;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=16785;ExAC.Info.AC_Hom=2103;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2940-36G>T;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2940G>T;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2940G>T;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270722;SAVANT_GENE=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;SAVANT_INFO=+/369.4kb/17/8.7kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2940-36G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM16+c.2940-36G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3342109">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,47:89:99:1422,0,1189:127	1|0:66,52:118:99:1648,0,1770:127	0|0:99,0:99:99:0,296,3153:127
1	3342530	.	G	A	5617.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3)|Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3);dbSNP139.ID=rs2244013;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2244013" target="_blank">rs2244013</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3110-85G>A;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270722;SAVANT_GENE=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;SAVANT_INFO=+/369.4kb/17/8.7kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.3110-85G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM16+c.3110-85G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3342530">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,36:64:99:1108,0,884:127	1|0:37,35:72:99:978,0,1145:127	0|0:57,0:57:99:0,171,2222:127
1	3342804	.	G	T	16506.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=786;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3)|Left_ventricular_noncompaction_8|_615373_(3)|_Cardiomyopathy|_dilated|_1LL|_615373_(3);dbSNP139.ID=rs870171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=870171" target="_blank">rs870171</a>;ExAC.Info.AC=36715;ExAC.Info.AN=125368;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=25180;ExAC.Info.AC_Hom=5640;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3284+15G>T;snpeff.Amino_Acid_length=1276;snpeff.Gene_Name=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378398;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270722;SAVANT_GENE=PRDM16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM16" target="_blank">PRDM16</a>;SAVANT_INFO=+/369.4kb/17/8.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.3284+15G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM16+c.3284+15G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3342804">View</a>	GT:AD:DP:GQ:PL:TP	0|1:113,126:239:99:3557,0,3392:127	1|0:157,153:310:99:4416,0,4476:127	0|0:237,0:237:99:0,710,8344:127
1	3388406	.	A	G	1614.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72633372;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72633372" target="_blank">rs72633372</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1023-1236A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1023A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378378;SAVANT_GENE=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;SAVANT_INFO=+/26.7kb/15/3.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1023-1236A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF16+c.1023-1236A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3388406">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,2690:127	0|1:50,34:84:99:826,0,1304:127	0|0:68,0:68:99:0,204,2189:127
1	3389727	.	C	T	10752.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2185639;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2185639" target="_blank">rs2185639</a>;ExAC.Info.AC=101863;ExAC.Info.AN=126512;ExAC.Info.AF=0.805;ExAC.Info.AC_Het=17267;ExAC.Info.AC_Hom=41631;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Tac;snpeff.Amino_Acid_Change=p.His370Tyr/c.1108C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378378;SAVANT_GENE=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;SAVANT_INFO=+/26.7kb/15/3.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1108C>T_p.His370Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF16+c.1108C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3389727">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,41:106:99:962,0,1862:127	0|0:152,1:153:99:0,424,5256:127	1|1:0,104:104:99:3303,312,0:127
1	3390238	.	T	A	11320.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2493323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2493323" target="_blank">rs2493323</a>;ExAC.Info.AC=109796;ExAC.Info.AN=111096;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=218;ExAC.Info.AC_Hom=14739;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1305+152T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_RHOG_activation_and_mediates_interaction_with_EPHA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1306T>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378378;SAVANT_GENE=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;SAVANT_INFO=+/26.7kb/15/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1305+152T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF16+c.1305+152T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3390238">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1366,120,0:89	1|1:0,48:48:99:1656,144,0:89	1|1:0,30:30:90:1070,90,0:89
1	3394640	.	A	G	12156.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4422946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4422946" target="_blank">rs4422946</a>;ExAC.Info.AC=115402;ExAC.Info.AN=123682;ExAC.Info.AF=0.933;ExAC.Info.AC_Het=7474;ExAC.Info.AC_Hom=53736;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1625+50A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1626A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1626A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1626A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378378;SAVANT_GENE=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;SAVANT_INFO=+/26.7kb/15/3.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1625+50A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF16+c.1625+50A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3394640">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,31:64:99:923,0,867:127	0|1:36,43:79:99:1403,0,1015:127	1|1:0,85:85:99:3116,255,0:127
1	3395039	.	G	A	14494.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs10797395;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797395" target="_blank">rs10797395</a>;ExAC.Info.AC=99454;ExAC.Info.AN=123942;ExAC.Info.AF=0.802;ExAC.Info.AC_Het=17224;ExAC.Info.AC_Hom=40846;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1677G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1677G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1677G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val559Val/c.1677G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378378;SAVANT_GENE=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;SAVANT_INFO=+/26.7kb/15/3.1kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1677G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF16+c.1677G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3395039">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,51:116:99:1413,0,1862:127	0|0:143,0:143:99:0,429,5016:127	1|1:0,123:123:99:4141,370,0:127
1	3395973	.	ACC	A	3838.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs70938094;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=70938094" target="_blank">rs70938094</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1815-107_1815-106delCC;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815_1816delCC;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815_1816delCC;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815_1816delCC;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000378378;SAVANT_GENE=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;SAVANT_INFO=+/26.7kb/15/3.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1815-104_1815-103delCC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF16+c.1815-104_1815-103delCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3395973">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,17:35:99:627,0,674:60	0|0:44,0:44:99:0,132,1868:60	1|1:0,20:20:60:866,60,0:60
1	3397062	.	G	A	5985.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56309807;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56309807" target="_blank">rs56309807</a>;ExAC.Info.AC=2193;ExAC.Info.AN=124914;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2108;ExAC.Info.AC_Hom=30;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2041G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2041G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2041G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2041G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu681Lys/c.2041G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378378;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378378;SAVANT_GENE=ARHGEF16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF16" target="_blank">ARHGEF16</a>;SAVANT_INFO=+/26.7kb/15/3.1kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2041G>A_p.Glu681Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF16+c.2041G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3397062">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,33:66:99:881,0,804:127	1|0:53,44:97:99:1176,0,1436:127	0|0:73,0:73:99:0,219,2374:127
1	3412418	.	G	A	1202.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41315290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41315290" target="_blank">rs41315290</a>;ExAC.Info.AC=5867;ExAC.Info.AN=123096;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=4750;ExAC.Info.AC_Hom=297;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3871+36C>T;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.3871+36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.3871+36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3412418">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1156:104	0|0:52,0:52:99:0,156,1831:104	0|1:15,24:39:99:620,0,308:104
1	3412644	.	G	A	428.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=82;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41315292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41315292" target="_blank">rs41315292</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3743-62C>T;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.3743-62C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.3743-62C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3412644">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,694:57	0|0:42,0:42:99:0,126,1370:57	0|1:12,9:21:99:233,0,388:57
1	3413868	.	C	G	1080.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4648506;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648506" target="_blank">rs4648506</a>;ExAC.Info.AC=32959;ExAC.Info.AN=120214;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=21002;ExAC.Info.AC_Hom=4473;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3410C>G;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_21];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3410C>G;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gCc;snpeff.Amino_Acid_Change=p.Gly1137Ala/c.3410G>C;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3410G>C_p.Gly1137Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.3410G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3413868">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,925:74	0|1:16,17:33:99:559,0,468:74	0|0:31,0:31:99:0,99,1294:74
1	3413874	.	G	A	1056.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs202008315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202008315" target="_blank">rs202008315</a>;ExAC.Info.AC=147;ExAC.Info.AN=121502;ExAC.Info.AF=1.210e-03;ExAC.Info.AC_Het=130;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3404G>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_21];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3404G>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro1135Leu/c.3404C>T;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3404C>T_p.Pro1135Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.3404C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3413874">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,809:71	0|0:35,0:35:99:0,108,1434:71	0|1:15,19:34:99:547,0,391:71
1	3416449	.	C	A	350.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7553399;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7553399" target="_blank">rs7553399</a>;ExAC.Info.AC=66639;ExAC.Info.AN=109970;ExAC.Info.AF=0.606;ExAC.Info.AC_Het=6804;ExAC.Info.AC_Hom=7736;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2747C>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2747C>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cTg;snpeff.Amino_Acid_Change=p.Arg916Leu/c.2747G>T;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.2747G>T_p.Arg916Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.2747G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3416449">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,969:92	0|1:27,9:36:99:194,0,815:92	0|0:39,0:39:99:0,117,1250:92
1	3417123	.	G	A	4091.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72633385;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72633385" target="_blank">rs72633385</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2707+74C>T;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2707+74C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.2707+74C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3417123">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,30:55:99:823,0,694:127	0|0:46,0:46:99:0,141,1910:127	1|0:24,25:49:99:658,0,712:127
1	3417131	.	A	G	1142.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2821031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2821031" target="_blank">rs2821031</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2707+66T>C;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2707+66T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.2707+66T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3417131">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,2244:127	0|1:27,24:51:99:590,0,753:127	0|0:47,0:47:99:0,141,1845:127
1	3418391	.	C	T	1712.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4648508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648508" target="_blank">rs4648508</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37263;ExAC.Info.AN=123272;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=25090;ExAC.Info.AC_Hom=5737;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2283C>T;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2283C>T;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro761Pro/c.2283G>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2283G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.2283G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3418391">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2260:104	0|1:31,32:63:99:875,0,850:104	0|0:35,0:35:99:0,105,1344:104
1	3421897	.	A	G	4222.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2821008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2821008" target="_blank">rs2821008</a>;ExAC.Info.AC=23705;ExAC.Info.AN=124060;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=17541;ExAC.Info.AC_Hom=2296;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu688Pro/c.2063T>C;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2063T>C_p.Leu688Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.2063T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3421897">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,23:46:99:638,0,642:127	1|0:51,34:85:99:914,0,1504:127	0|0:59,0:59:99:0,177,1995:127
1	3424388	.	G	A	10186.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs947345;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=947345" target="_blank">rs947345</a>;ExAC.Info.AC=5883;ExAC.Info.AN=125520;ExAC.Info.AF=0.047;ExAC.Info.AC_Het=5491;ExAC.Info.AC_Hom=169;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760G>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760G>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro587Leu/c.1760C>T;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1760C>T_p.Pro587Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.1760C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3424388">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,53:104:99:1433,0,1328:127	1|0:58,72:130:99:2079,0,1596:127	0|0:120,0:120:99:0,360,3948:127
1	3428160	.	T	G	13815.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=189;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2820999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2820999" target="_blank">rs2820999</a>;ExAC.Info.AC=45734;ExAC.Info.AN=124696;ExAC.Info.AF=0.367;ExAC.Info.AC_Het=25768;ExAC.Info.AC_Hom=9708;snpeff.Effect=sequence_feature[domain:EGF-like_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1068T>G;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acC;snpeff.Amino_Acid_Change=p.Thr356Thr/c.1068A>C;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1068A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.1068A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3428160">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2173,189,0:127	1|0:35,37:72:99:1197,0,987:127	1|1:0,54:54:99:1913,162,0:127
1	3428608	.	G	A	9885.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11585362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11585362" target="_blank">rs11585362</a>;ExAC.Info.AC=22582;ExAC.Info.AN=124644;ExAC.Info.AF=0.181;ExAC.Info.AC_Het=17337;ExAC.Info.AC_Hom=2494;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.938G>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.938G>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.938G>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala313Val/c.938C>T;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.938C>T_p.Ala313Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.938C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3428608">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1527,129,0:127	1|0:31,26:57:99:742,0,863:127	1|1:0,44:44:99:1563,132,0:127
1	3440647	.	T	C	6223.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2794322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794322" target="_blank">rs2794322</a>;ExAC.Info.AC=115885;ExAC.Info.AN=122490;ExAC.Info.AF=0.946;ExAC.Info.AC_Het=4941;ExAC.Info.AC_Hom=46564;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.604+41A>G;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.604+41A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.604+41A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3440647">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:728,57,0:62	1|1:0,26:26:78:950,78,0:62	1|1:0,21:21:63:821,63,0:62
1	3440824	.	G	A	1878.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10797399;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797399" target="_blank">rs10797399</a>;ExAC.Info.AC=33406;ExAC.Info.AN=124742;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=23666;ExAC.Info.AC_Hom=4629;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.482-14C>T;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.482G>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.482G>A;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.482-14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.482-14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3440824">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1775:127	0|1:26,32:58:99:958,0,678:127	0|0:52,0:52:99:0,156,1801:127
1	3496479	.	T	C	11424.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2794340;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794340" target="_blank">rs2794340</a>;cosmic68.Histology_subtype=ductal_carcinoma;ExAC.Info.AC=108008;ExAC.Info.AN=123266;ExAC.Info.AF=0.876;ExAC.Info.AC_Het=10093;ExAC.Info.AC_Hom=37511;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.391T>C;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.391T>C;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.391T>C;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser131Gly/c.391A>G;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.391A>G_p.Ser131Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.391A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3496479">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1371,123,0:125	1|1:0,58:58:99:1876,174,0:125	1|1:0,42:42:99:1342,126,0:125
1	3511934	.	A	G	5750.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7513275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7513275" target="_blank">rs7513275</a>;ExAC.Info.AC=22727;ExAC.Info.AN=124240;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=17551;ExAC.Info.AC_Hom=2395;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>G;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EMI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>G;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EMI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>G;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EMI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>G;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met115Thr/c.344T>C;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.344T>C_p.Met115Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.344T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3511934">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,29:64:99:773,0,1041:127	1|0:36,47:83:99:1249,0,1089:127	0|0:52,0:52:99:0,156,1847:127
1	3527944	.	C	G	8481.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10797402;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797402" target="_blank">rs10797402</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=112;snpeff.Amino_Acid_Change=c.-112G>C;snpeff.Amino_Acid_length=1541;snpeff.Gene_Name=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356575;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356575;SAVANT_GENE=MEGF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF6" target="_blank">MEGF6</a>;SAVANT_INFO=-/121.6kb/37/5.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-112G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEGF6+c.-112G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3527944">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1388,111,0:53	1|1:0,35:35:99:1386,105,0:53	1|1:0,18:18:54:706,54,0:53
1	3528082	.	T	C	4355.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=51;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10797403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797403" target="_blank">rs10797403</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797403" target="_blank">rs10797403</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3528082">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:727,60,0:35	1|1:0,12:12:36:489,36,0:35	1|1:0,19:19:57:610,57,0:35
1	3548136	.	T	C	13259.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2760321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2760321" target="_blank">rs2760321</a>;ExAC.Info.AC=109631;ExAC.Info.AN=125980;ExAC.Info.AF=0.870;ExAC.Info.AC_Het=13286;ExAC.Info.AC_Hom=46655;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134T>C;snpeff.Amino_Acid_length=460;snpeff.Gene_Name=WRAP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WRAP73" target="_blank">WRAP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270708;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala378Ala/c.1134A>G;snpeff.Amino_Acid_length=460;snpeff.Gene_Name=WRAP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WRAP73" target="_blank">WRAP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270708;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270708;SAVANT_GENE=WRAP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WRAP73" target="_blank">WRAP73</a>;SAVANT_INFO=-/19.3kb/12/1.7kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1134A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WRAP73+c.1134A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3548136">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1443,117,0:127	1|1:0,60:60:99:2220,180,0:127	1|1:0,47:47:99:1595,141,0:127
1	3548832	.	G	C	4686.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2760320;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2760320" target="_blank">rs2760320</a>;ExAC.Info.AC=8438;ExAC.Info.AN=126700;ExAC.Info.AF=0.067;ExAC.Info.AC_Het=7504;ExAC.Info.AC_Hom=463;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.993G>C;snpeff.Amino_Acid_length=460;snpeff.Gene_Name=WRAP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WRAP73" target="_blank">WRAP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270708;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.993G>C;snpeff.Amino_Acid_length=460;snpeff.Gene_Name=WRAP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WRAP73" target="_blank">WRAP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270708;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atC/atG;snpeff.Amino_Acid_Change=p.Ile331Met/c.993C>G;snpeff.Amino_Acid_length=460;snpeff.Gene_Name=WRAP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WRAP73" target="_blank">WRAP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270708;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270708;SAVANT_GENE=WRAP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WRAP73" target="_blank">WRAP73</a>;SAVANT_INFO=-/19.3kb/12/1.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.993C>G_p.Ile331Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WRAP73+c.993C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3548832">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,29:73:99:801,0,1262:127	0|0:73,0:73:99:0,219,2375:127	1|0:22,25:47:99:795,0,597:127
1	3607520	.	G	A	7274.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs3765730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3765730" target="_blank">rs3765730</a>;ExAC.Info.AC=31191;ExAC.Info.AN=119680;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=11565;ExAC.Info.AC_Hom=2492;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.186+7776G>A;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378295;SAVANT_GENE=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;SAVANT_INFO=+/83.7kb/14/5.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.186+7776G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73+c.186+7776G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3607520">View</a>	GT:AD:DP:GQ:PL:TP	0/1:61,37:98:99:937,0,1681:127	0/1:41,40:81:99:1097,0,1086:127	0/1:53,35:88:99:947,0,1330:127
1	3638674	.	C	T	64915.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=880;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs1801174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801174" target="_blank">rs1801174</a>;ExAC.Info.AC=101907;ExAC.Info.AN=125838;ExAC.Info.AF=0.810;ExAC.Info.AC_Het=17207;ExAC.Info.AC_Hom=41565;snpeff.Effect=sequence_feature[region_of_interest:DNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.519C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:DNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.519C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:DNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.519C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:DNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.519C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:DNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.519C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr173Thr/c.519C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378295;SAVANT_GENE=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;SAVANT_INFO=+/83.7kb/14/5.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.519C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73+c.519C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3638674">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,296:296:99:9636,887,0:127	1|1:2,333:335:99:11181,958,0:127	1|1:0,249:249:99:8402,747,0:127
1	3638834	.	C	T	5755.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs12737840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12737840" target="_blank">rs12737840</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.616+63C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:DNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:DNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:DNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:DNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:DNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617C>T;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378295;SAVANT_GENE=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;SAVANT_INFO=+/83.7kb/14/5.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.616+63C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73+c.616+63C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3638834">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,39:81:99:1176,0,1139:127	0|0:99,2:101:99:0,254,3366:127	1|0:37,32:69:99:1039,0,999:127
1	3644349	.	A	G	25700.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=277;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs2181486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2181486" target="_blank">rs2181486</a>;ExAC.Info.AC=50029;ExAC.Info.AN=78228;ExAC.Info.AF=0.640;ExAC.Info.AC_Het=3120;ExAC.Info.AC_Hom=3977;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.985+15A>G;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378295;SAVANT_GENE=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;SAVANT_INFO=+/83.7kb/14/5.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.985+15A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73+c.985+15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3644349">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3463,301,0:127	1|1:0,95:95:99:3390,286,0:127	1|1:0,82:82:99:2936,247,0:127
1	3644374	.	A	G	23974.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs2146657;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2146657" target="_blank">rs2146657</a>;ExAC.Info.AC=42699;ExAC.Info.AN=66802;ExAC.Info.AF=0.639;ExAC.Info.AC_Het=1963;ExAC.Info.AC_Hom=2509;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.985+40A>G;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378295;SAVANT_GENE=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;SAVANT_INFO=+/83.7kb/14/5.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.985+40A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73+c.985+40A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3644374">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:2960,258,0:127	1|1:0,93:93:99:3527,280,0:127	1|1:0,79:79:99:2719,237,0:127
1	3644805	.	A	G	11350.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs2236366;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236366" target="_blank">rs2236366</a>;ExAC.Info.AC=21255;ExAC.Info.AN=125484;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=15085;ExAC.Info.AC_Hom=2912;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1074+24A>G;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075A>G;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075A>G;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Oligomerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075A>G;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Oligomerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075A>G;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HIPK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075A>G;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HIPK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075A>G;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378295;SAVANT_GENE=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;SAVANT_INFO=+/83.7kb/14/5.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1074+24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73+c.1074+24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3644805">View</a>	GT:AD:DP:GQ:PL:TP	0/1:66,68:134:99:1642,0,1756:127	0/1:72,66:138:99:1734,0,2037:127	0/1:59,53:112:99:1263,0,1629:127
1	3644858	.	G	C	7069.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs2236365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236365" target="_blank">rs2236365</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1074+77G>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075G>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075G>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Oligomerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075G>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Oligomerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075G>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HIPK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075G>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HIPK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075G>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378295;SAVANT_GENE=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;SAVANT_INFO=+/83.7kb/14/5.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1074+77G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73+c.1074+77G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3644858">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,36:70:99:1044,0,1122:127	0/1:46,41:87:99:1172,0,1396:127	0/1:37,29:66:99:779,0,1160:127
1	3646192	.	G	A	15347.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs1885867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1885867" target="_blank">rs1885867</a>;ExAC.Info.AC=82666;ExAC.Info.AN=122522;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=17116;ExAC.Info.AC_Hom=21788;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1196+180G>A;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378295;SAVANT_GENE=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;SAVANT_INFO=+/83.7kb/14/5.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1196+180G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73+c.1196+180G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3646192">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1923,138,0:127	1|1:0,46:46:99:2039,138,0:127	1|1:0,48:48:99:2081,147,0:127
1	3646214	.	T	C	16798.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs1885866;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1885866" target="_blank">rs1885866</a>;ExAC.Info.AC=82305;ExAC.Info.AN=121224;ExAC.Info.AF=0.679;ExAC.Info.AC_Het=14909;ExAC.Info.AC_Hom=19237;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1196+202T>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378295;SAVANT_GENE=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;SAVANT_INFO=+/83.7kb/14/5.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1196+202T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73+c.1196+202T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3646214">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:2067,144,0:127	1|1:0,55:55:99:2402,166,0:127	1|1:0,49:49:99:2182,156,0:127
1	3646291	.	G	A	12646.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs1885865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1885865" target="_blank">rs1885865</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1197-273G>A;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378295;SAVANT_GENE=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;SAVANT_INFO=+/83.7kb/14/5.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1197-273G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73+c.1197-273G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3646291">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1664,141,0:127	1|1:0,54:54:99:1835,162,0:127	1|1:0,45:45:99:1649,135,0:127
1	3647962	.	T	C	7751.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs1745813;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1745813" target="_blank">rs1745813</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1485-65T>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1485T>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1485T>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1485T>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1485T>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1485T>C;snpeff.Amino_Acid_length=636;snpeff.Gene_Name=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378295;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378295;SAVANT_GENE=TP73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73" target="_blank">TP73</a>;SAVANT_INFO=+/83.7kb/14/5.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1485-65T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73+c.1485-65T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3647962">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,40:74:99:1242,0,959:127	0/1:33,43:76:99:1473,0,1032:127	0/1:22,26:48:99:896,0,653:127
1	3659657	.	G	A	5444.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=?Neuroblastoma_(1)|?Neuroblastoma_(1);dbSNP139.ID=rs2298222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298222" target="_blank">rs2298222</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1814C>T;snpeff.Gene_Name=TP73-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73-AS1" target="_blank">TP73-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000452079;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP73-AS1" target="_blank">TP73-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP73-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3659657">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,26:75:99:766,0,1465:127	0|0:76,0:76:99:0,228,2579:127	1|0:26,29:55:99:988,0,726:127
1	3669172	.	C	T	14815.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=464;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41315312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41315312" target="_blank">rs41315312</a>;ExAC.Info.AC=9242;ExAC.Info.AN=126704;ExAC.Info.AF=0.073;ExAC.Info.AC_Het=8467;ExAC.Info.AC_Hom=385;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg43Cys/c.127C>T;snpeff.Amino_Acid_length=656;snpeff.Gene_Name=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294600;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294600;SAVANT_GENE=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;SAVANT_INFO=+/19.2kb/12/2.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.127C>T_p.Arg43Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC27+c.127C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3669172">View</a>	GT:AD:DP:GQ:PL:TP	0/1:71,66:137:99:1874,0,2062:127	0/1:119,69:188:99:1826,0,3493:127	0/1:64,75:139:99:2028,0,1786:127
1	3669201	.	A	G	38098.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=428;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10797410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797410" target="_blank">rs10797410</a>;ExAC.Info.AC=51921;ExAC.Info.AN=126704;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=28893;ExAC.Info.AC_Hom=11455;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro52Pro/c.156A>G;snpeff.Amino_Acid_length=656;snpeff.Gene_Name=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294600;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294600;SAVANT_GENE=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;SAVANT_INFO=+/19.2kb/12/2.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.156A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC27+c.156A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3669201">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:5668,382,0:127	1|0:112,66:178:99:2454,0,4368:127	1|1:0,125:125:99:5618,382,0:127
1	3669205	.	C	G	37901.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10910021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10910021" target="_blank">rs10910021</a>;ExAC.Info.AC=47728;ExAC.Info.AN=126704;ExAC.Info.AF=0.377;ExAC.Info.AC_Het=29495;ExAC.Info.AC_Hom=9065;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln54Glu/c.160C>G;snpeff.Amino_Acid_length=656;snpeff.Gene_Name=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294600;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294600;SAVANT_GENE=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;SAVANT_INFO=+/19.2kb/12/2.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.160C>G_p.Gln54Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC27+c.160C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3669205">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:5714,385,0:127	1|0:104,67:171:99:2506,0,4225:127	1|1:0,121:121:99:5533,376,0:127
1	3677933	.	T	C	9168.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1181883;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1181883" target="_blank">rs1181883</a>;ExAC.Info.AC=52372;ExAC.Info.AN=126698;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=29732;ExAC.Info.AC_Hom=11272;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800T>C;snpeff.Amino_Acid_length=656;snpeff.Gene_Name=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294600;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met267Thr/c.800T>C;snpeff.Amino_Acid_length=656;snpeff.Gene_Name=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294600;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294600;SAVANT_GENE=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;SAVANT_INFO=+/19.2kb/12/2.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.800T>C_p.Met267Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC27+c.800T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3677933">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1431,141,0:104	1|0:30,25:55:99:781,0,890:104	1|1:0,35:35:99:1251,105,0:104
1	3679139	.	T	C	4643.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=53;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1181879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1181879" target="_blank">rs1181879</a>;ExAC.Info.AC=14269;ExAC.Info.AN=47482;ExAC.Info.AF=0.301;ExAC.Info.AC_Het=5535;ExAC.Info.AC_Hom=2587;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.862-45T>C;snpeff.Amino_Acid_length=656;snpeff.Gene_Name=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294600;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294600;SAVANT_GENE=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;SAVANT_INFO=+/19.2kb/12/2.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.862-45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC27+c.862-45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3679139">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:628,45,0:44	1|0:9,9:18:99:211,0,270:44	1|1:0,20:20:60:845,60,0:44
1	3679146	.	G	A	1747.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=54;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4648556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648556" target="_blank">rs4648556</a>;ExAC.Info.AC=7128;ExAC.Info.AN=52148;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=4018;ExAC.Info.AC_Hom=670;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.862-38G>A;snpeff.Amino_Acid_length=656;snpeff.Gene_Name=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294600;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294600;SAVANT_GENE=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;SAVANT_INFO=+/19.2kb/12/2.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.862-38G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC27+c.862-38G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3679146">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,8:16:99:209,0,238:54	0|0:18,0:18:54:0,54,935:54	1|0:5,15:20:99:380,0,110:54
1	3679775	.	C	T	1706.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10910024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10910024" target="_blank">rs10910024</a>;ExAC.Info.AC=18434;ExAC.Info.AN=121064;ExAC.Info.AF=0.152;ExAC.Info.AC_Het=5964;ExAC.Info.AC_Hom=793;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1058C>T;snpeff.Amino_Acid_length=656;snpeff.Gene_Name=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294600;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1058C>T;snpeff.Amino_Acid_length=656;snpeff.Gene_Name=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294600;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr353Met/c.1058C>T;snpeff.Amino_Acid_length=656;snpeff.Gene_Name=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294600;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294600;SAVANT_GENE=CCDC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC27" target="_blank">CCDC27</a>;SAVANT_INFO=+/19.2kb/12/2.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1058C>T_p.Thr353Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC27+c.1058C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3679775">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,12:31:99:316,0,532:104	0|0:45,1:46:99:0,104,1450:104	1|0:19,7:26:99:164,0,551:104
1	3703710	.	G	A	6364.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2253143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2253143" target="_blank">rs2253143</a>;ExAC.Info.AC=7067;ExAC.Info.AN=126684;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=6039;ExAC.Info.AC_Hom=499;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val260Val/c.780C>T;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=LRRC47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC47" target="_blank">LRRC47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378251;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378251;SAVANT_GENE=LRRC47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC47" target="_blank">LRRC47</a>;SAVANT_INFO=-/16.3kb/7/2.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.780C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC47+c.780C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3703710">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,36:77:99:946,0,1212:127	0|0:100,0:100:99:0,301,3596:127	1|0:34,41:75:99:1209,0,887:127
1	3732103	.	T	C	2974.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4648409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648409" target="_blank">rs4648409</a>;ExAC.Info.AC=73079;ExAC.Info.AN=125914;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=23172;ExAC.Info.AC_Hom=17243;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2663-22A>G;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2663-22A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.2663-22A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3732103">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,295,3421:127	0|0:120,0:120:99:0,361,4331:127	0|1:43,55:98:99:1506,0,1220:127
1	3732782	.	T	C	1056.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6703035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6703035" target="_blank">rs6703035</a>;ExAC.Info.AC=23547;ExAC.Info.AN=49834;ExAC.Info.AF=0.473;ExAC.Info.AC_Het=4564;ExAC.Info.AC_Hom=4825;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2662+62A>G;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2662+62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.2662+62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3732782">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,1336:113	0|0:39,0:39:99:0,117,1325:113	0|1:8,17:25:99:547,0,245:113
1	3743391	.	C	T	2968.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6688969;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6688969" target="_blank">rs6688969</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2152-83G>A;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2152C>T;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2152C>T;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2152C>T;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2152-83G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.2152-83G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3743391">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,0:103:99:0,310,3790:127	0|0:143,0:143:99:0,430,5017:127	0|1:63,51:114:99:1503,0,1879:127
1	3745787	.	T	C	2228.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2275832;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275832" target="_blank">rs2275832</a>;ExAC.Info.AC=78718;ExAC.Info.AN=126166;ExAC.Info.AF=0.624;ExAC.Info.AC_Het=26511;ExAC.Info.AC_Hom=23437;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2151+43A>G;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2152T>C;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2152T>C;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2152T>C;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2151+43A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.2151+43A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3745787">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,1:89:99:0,231,2745:127	0|0:124,0:124:99:0,372,4005:127	0|1:55,38:93:99:1133,0,1583:127
1	3746583	.	G	T	11121.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2275828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275828" target="_blank">rs2275828</a>;ExAC.Info.AC=48449;ExAC.Info.AN=126664;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=29203;ExAC.Info.AC_Hom=9477;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1837-22C>A;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1837G>T;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1837G>T;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1837-22C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.1837-22C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3746583">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1636,111,0:110	1|1:0,56:56:99:2472,172,0:110	1|0:30,15:45:99:532,0,1215:110
1	3746585	.	T	G	2386.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2275827;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275827" target="_blank">rs2275827</a>;ExAC.Info.AC=28712;ExAC.Info.AN=126660;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=21457;ExAC.Info.AC_Hom=3567;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1837-24A>C;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1837T>G;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1837T>G;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1837-24A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.1837-24A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3746585">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1665:110	0|0:56,0:56:99:0,172,2524:110	0|1:14,30:44:99:1212,0,537:110
1	3746589	.	C	G	13653.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2275826;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275826" target="_blank">rs2275826</a>;ExAC.Info.AC=108587;ExAC.Info.AN=126644;ExAC.Info.AF=0.857;ExAC.Info.AC_Het=12868;ExAC.Info.AC_Hom=47371;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1837-28G>C;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1837C>G;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1837C>G;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1837-28G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.1837-28G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3746589">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1612,108,0:127	1|1:0,52:52:99:2427,169,0:127	1|1:0,44:44:99:1960,132,0:127
1	3753136	.	A	T	14985.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275824" target="_blank">rs2275824</a>;ExAC.Info.AC=46924;ExAC.Info.AN=126704;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=28278;ExAC.Info.AC_Hom=9318;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tta/Ata;snpeff.Amino_Acid_Change=p.Leu414Ile/c.1240T>A;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1240T>A_p.Leu414Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.1240T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3753136">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2181,210,0:127	1|1:0,85:85:99:2709,255,0:127	1|0:33,48:81:99:1183,0,820:127
1	3755675	.	T	C	53812.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=652;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1891941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1891941" target="_blank">rs1891941</a>;ExAC.Info.AC=108794;ExAC.Info.AN=126702;ExAC.Info.AF=0.859;ExAC.Info.AC_Het=12873;ExAC.Info.AC_Hom=47952;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.744T>C;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.744T>C;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu248Glu/c.744A>G;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.744A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.744A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3755675">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,197:197:99:6897,591,0:127	1|1:0,247:247:99:8353,742,0:127	1|1:0,208:208:99:7050,624,0:127
1	3756120	.	A	G	10046.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1539649;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1539649" target="_blank">rs1539649</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.735+52T>C;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.736A>G;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.736A>G;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.735+52T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.735+52T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3756120">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1601,141,0:127	1|1:0,66:66:99:2279,198,0:127	1|0:21,21:42:99:610,0,682:127
1	3759784	.	A	G	11186.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10797347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797347" target="_blank">rs10797347</a>;ExAC.Info.AC=16635;ExAC.Info.AN=20016;ExAC.Info.AF=0.831;ExAC.Info.AC_Het=2258;ExAC.Info.AC_Hom=6409;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.566+1687T>C;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.566+1687T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.566+1687T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3759784">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1051,90,0:113	1|1:0,56:56:99:2194,168,0:113	1|1:0,38:38:99:1394,114,0:113
1	3759889	.	T	TA	163.51	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=16;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs60718273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60718273" target="_blank">rs60718273</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.566+1582_566+1581insT;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.566+1581dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.566+1581dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3759889">View</a>	GT:AD:DP:GQ:PL:TP	0/1:1,1:2:19:19,0,19:12	0/1:1,2:3:16:39,0,16:12	0/1:8,3:11:23:23,0,165:12
1	3761479	.	C	T	12658.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2275822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275822" target="_blank">rs2275822</a>;ExAC.Info.AC=48583;ExAC.Info.AN=126704;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=29282;ExAC.Info.AC_Hom=9638;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr186Thr/c.558G>A;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.558G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.558G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3761479">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1867,165,0:127	1|1:0,65:65:99:2330,195,0:127	1|0:22,35:57:99:1149,0,575:127
1	3764216	.	C	T	1648.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10492942;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10492942" target="_blank">rs10492942</a>;ExAC.Info.AC=24497;ExAC.Info.AN=126684;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=18686;ExAC.Info.AC_Hom=2844;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.288-39G>A;snpeff.Amino_Acid_length=925;snpeff.Gene_Name=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378230;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378230;SAVANT_GENE=CEP104;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP104" target="_blank">CEP104</a>;SAVANT_INFO=-/45.1kb/22/6.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.288-39G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP104+c.288-39G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3764216">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2824:127	0|0:64,0:64:99:0,191,2431:127	0|1:43,31:74:99:843,0,1356:127
1	3788968	.	G	A	1172.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs111645751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111645751" target="_blank">rs111645751</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.682-68G>A;snpeff.Amino_Acid_length=338;snpeff.Gene_Name=DFFB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DFFB" target="_blank">DFFB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378209;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378209;SAVANT_GENE=DFFB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DFFB" target="_blank">DFFB</a>;SAVANT_INFO=+/28.1kb/7/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.682-68G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DFFB+c.682-68G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3788968">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,123,1491:62	0|1:16,20:36:99:605,0,497:62	0|0:21,0:21:63:0,63,806:62
1	3789194	.	G	GCGGCCC	2173.71	VQSRTrancheINDEL99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=168;MQ=70.43;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.782+59_782+60insCGGCCC;snpeff.Amino_Acid_length=338;snpeff.Gene_Name=DFFB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DFFB" target="_blank">DFFB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378209;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000378209;SAVANT_GENE=DFFB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DFFB" target="_blank">DFFB</a>;SAVANT_INFO=+/28.1kb/7/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.782+58_782+59insCGGCCC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DFFB+c.782+58_782+59insCGGCCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3789194">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,197,3465:127	0|1:31,29:60:99:1110,0,1455:127	0|0:43,0:43:99:0,129,2413:127
1	3789195	.	T	TGTCCCTGCCGC	2173.71	VQSRTrancheINDEL99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=168;MQ=70.54;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.782+60_782+61insGTCCCTGCCGC;snpeff.Amino_Acid_length=338;snpeff.Gene_Name=DFFB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DFFB" target="_blank">DFFB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378209;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000378209;SAVANT_GENE=DFFB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DFFB" target="_blank">DFFB</a>;SAVANT_INFO=+/28.1kb/7/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.782+60_782+61insTCCCTGCCGCG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DFFB+c.782+60_782+61insTCCCTGCCGCG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3789195">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,197,3465:127	0|1:32,28:60:99:1110,0,1455:127	0|0:43,0:43:99:0,129,2413:127
1	3800242	.	A	G	26144.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3205087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3205087" target="_blank">rs3205087</a>;ExAC.Info.AC=50245;ExAC.Info.AN=126704;ExAC.Info.AF=0.397;ExAC.Info.AC_Het=29504;ExAC.Info.AC_Hom=10357;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro318Pro/c.954A>G;snpeff.Amino_Acid_length=338;snpeff.Gene_Name=DFFB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DFFB" target="_blank">DFFB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378209;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378209;SAVANT_GENE=DFFB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DFFB" target="_blank">DFFB</a>;SAVANT_INFO=+/28.1kb/7/3.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.954A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DFFB+c.954A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3800242">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3698,339,0:127	1|1:0,165:165:99:5489,496,0:127	1|0:84,51:135:99:1367,0,2324:127
1	3806643	.	T	A	19911.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs4520357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4520357" target="_blank">rs4520357</a>;ExAC.Info.AC=44925;ExAC.Info.AN=126702;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=28258;ExAC.Info.AC_Hom=8265;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.619-6A>T;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=C1orf174;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf174" target="_blank">C1orf174</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361605;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361605;SAVANT_GENE=C1orf174;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf174" target="_blank">C1orf174</a>;SAVANT_INFO=-/11.2kb/4/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.619-6A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf174+c.619-6A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3806643">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3611,301,0:127	1|0:81,79:160:99:2358,0,2464:127	1|0:44,48:92:99:1627,0,1355:127
1	3807593	.	G	C	36739.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=443;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4274008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4274008" target="_blank">rs4274008</a>;ExAC.Info.AC=125907;ExAC.Info.AN=126646;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=732;ExAC.Info.AC_Hom=62202;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aGg;snpeff.Amino_Acid_Change=p.Thr53Arg/c.158C>G;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=C1orf174;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf174" target="_blank">C1orf174</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361605;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361605;SAVANT_GENE=C1orf174;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf174" target="_blank">C1orf174</a>;SAVANT_INFO=-/11.2kb/4/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.158C>G_p.Thr53Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf174+c.158C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3807593">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,135:135:99:4768,406,0:127	1|1:0,186:186:99:6604,558,0:127	1|1:0,122:122:99:4409,366,0:127
1	3809423	.	G	A	35105.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=693;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11807227;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11807227" target="_blank">rs11807227</a>;ExAC.Info.AC=18007;ExAC.Info.AN=126682;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=14847;ExAC.Info.AC_Hom=1359;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.129+24C>T;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=C1orf174;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf174" target="_blank">C1orf174</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361605;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361605;SAVANT_GENE=C1orf174;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf174" target="_blank">C1orf174</a>;SAVANT_INFO=-/11.2kb/4/1.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.129+24C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf174+c.129+24C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:3809423">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,211:211:99:6921,634,0:127	1|0:125,127:252:99:3659,0,3605:127	1|0:124,106:230:99:3143,0,3466:127
1	4736456	.	G	T	21171.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=543;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10915584;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10915584" target="_blank">rs10915584</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.29+20942G>T;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.30G>T;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.30G>T;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.30G>T;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378191;SAVANT_GENE=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;SAVANT_INFO=+/128.7kb/6/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.29+20942G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AJAP1+c.29+20942G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:4736456">View</a>	GT:AD:DP:GQ:PL:TP	0|1:116,92:208:99:2428,0,3322:127	1|1:0,154:154:99:5044,462,0:127	0|1:101,80:181:99:2304,0,2982:127
1	4772053	.	T	C	14142.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=327;MQ=69.97;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1061968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061968" target="_blank">rs1061968</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=56522;ExAC.Info.AN=125520;ExAC.Info.AF=0.450;ExAC.Info.AC_Het=27638;ExAC.Info.AC_Hom=13383;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.123T>C;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.123T>C;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.123T>C;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys41Cys/c.123T>C;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378191;SAVANT_GENE=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;SAVANT_INFO=+/128.7kb/6/2.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.123T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AJAP1+c.123T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:4772053">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,47:105:99:1081,0,1673:127	0|1:65,62:127:99:1615,0,1755:127	1|1:0,95:95:99:3147,285,0:127
1	4772717	.	G	A	12157.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs242056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=242056" target="_blank">rs242056</a>;ExAC.Info.AC=65620;ExAC.Info.AN=126132;ExAC.Info.AF=0.520;ExAC.Info.AC_Het=25807;ExAC.Info.AC_Hom=18141;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.787G>A;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.787G>A;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.787G>A;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly263Arg/c.787G>A;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378191;SAVANT_GENE=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;SAVANT_INFO=+/128.7kb/6/2.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.787G>A_p.Gly263Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AJAP1+c.787G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:4772717">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2069,177,0:127	1|1:0,65:65:99:2301,195,0:127	1|0:27,25:52:99:669,0,799:127
1	4834606	.	T	C	5867.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs389959;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=389959" target="_blank">rs389959</a>;ExAC.Info.AC=28801;ExAC.Info.AN=126700;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=21051;ExAC.Info.AC_Hom=3854;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=47;snpeff.Amino_Acid_Change=c.*47T>C;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378190;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378191;SAVANT_GENE=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;SAVANT_INFO=+/128.7kb/6/2.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*47T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AJAP1+c.*47T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:4834606">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,33:64:99:920,0,896:127	0|0:75,0:75:99:0,225,2561:127	1|0:43,36:79:99:955,0,1163:127
1	4847845	.	G	A	15269.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=388;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4654460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4654460" target="_blank">rs4654460</a>;ExAC.Info.AC=9247;ExAC.Info.AN=16098;ExAC.Info.AF=0.574;ExAC.Info.AC_Het=2582;ExAC.Info.AC_Hom=2288;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AJAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AJAP1" target="_blank">AJAP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AJAP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:4847845">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,61:117:99:1842,0,1597:127	0|0:147,0:147:99:0,442,5171:127	1|1:0,124:124:99:4531,372,0:127
1	5934490	.	A	G	15268.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs868163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=868163" target="_blank">rs868163</a>;ExAC.Info.AC=44153;ExAC.Info.AN=95650;ExAC.Info.AF=0.462;ExAC.Info.AC_Het=2673;ExAC.Info.AC_Hom=2461;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3231+41T>C;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3231+41T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.3231+41T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:5934490">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2286,216,0:127	1|0:62,45:107:99:1157,0,1703:127	1|1:0,68:68:99:2289,204,0:127
1	5935162	.	A	T	20376.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs1287637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1287637" target="_blank">rs1287637</a>;ExAC.Info.AC=103282;ExAC.Info.AN=125048;ExAC.Info.AF=0.826;ExAC.Info.AC_Het=14980;ExAC.Info.AC_Hom=36877;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2818-2T>A;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.2818T>A;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;LOF=(NPHP4|ENSG00000131697|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2818-2T>A;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=ESS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.2818-2T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:5935162">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2348,189,0:127	1|1:0,93:93:99:3079,279,0:127	1|1:0,70:70:99:2547,210,0:127
1	5935222	.	T	C	11965.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs963030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=963030" target="_blank">rs963030</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2818-62A>G;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2818-62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.2818-62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:5935222">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1438,123,0:122	1|0:32,28:60:99:900,0,930:122	1|1:0,48:48:99:1779,144,0:122
1	5937091	.	T	C	35590.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=479;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs1622955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1622955" target="_blank">rs1622955</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2817+62A>G;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2817+62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.2817+62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:5937091">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,187:187:99:5982,562,0:127	1|1:0,153:153:99:5084,459,0:127	1|1:0,139:139:99:4568,417,0:127
1	5937168	.	G	A	3014.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs3747992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747992" target="_blank">rs3747992</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=51514;ExAC.Info.AN=124828;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=26480;ExAC.Info.AC_Hom=10534;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000081712;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg934Arg/c.2802C>T;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2802C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.2802C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:5937168">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081712" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,301,3627:127	0|1:52,51:103:99:1526,0,1595:127	0|0:104,0:104:99:0,313,3878:127
1	5937391	.	C	T	18004.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs3747989;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747989" target="_blank">rs3747989</a>;ExAC.Info.AC=96303;ExAC.Info.AN=123638;ExAC.Info.AF=0.779;ExAC.Info.AC_Het=12032;ExAC.Info.AC_Hom=24551;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2612-33G>A;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2612-33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.2612-33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:5937391">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2142,183,0:127	1|1:0,82:82:99:2835,246,0:127	1|1:0,64:64:99:2172,192,0:127
1	5937413	.	A	C	2146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs3747988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747988" target="_blank">rs3747988</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2612-55T>G;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2612-55T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.2612-55T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:5937413">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1569:127	0|1:33,41:74:99:1092,0,972:127	0|0:53,0:53:99:0,159,1938:127
1	5939544	.	T	G	24391.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs11121915;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11121915" target="_blank">rs11121915</a>;ExAC.Info.AC=93091;ExAC.Info.AN=116970;ExAC.Info.AF=0.796;ExAC.Info.AC_Het=18175;ExAC.Info.AC_Hom=36527;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2611+630A>C;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2611+630A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.2611+630A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:5939544">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2961,264,0:127	1|1:0,116:116:99:3922,347,0:127	1|1:0,69:69:99:2394,207,0:127
1	5948677	.	G	A	29419.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=350;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs2282281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282281" target="_blank">rs2282281</a>;ExAC.Info.AC=92651;ExAC.Info.AN=116354;ExAC.Info.AF=0.796;ExAC.Info.AC_Het=18297;ExAC.Info.AC_Hom=36791;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2305-1151C>T;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2305-1151C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.2305-1151C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:5948677">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:3972,375,0:127	1|1:0,108:108:99:3790,325,0:127	1|1:0,118:118:99:4032,355,0:127
1	5967064	.	G	T	11113.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs9628990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9628990" target="_blank">rs9628990</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1611+111C>A;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1611+111C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.1611+111C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:5967064">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2011,177,0:127	1|0:43,32:75:99:839,0,1284:127	1|1:0,44:44:99:1538,132,0:127
1	6027252	.	A	G	25392.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs875573;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=875573" target="_blank">rs875573</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.517+107T>C;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.517+107T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.517+107T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6027252">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3588,330,0:127	1|1:0,133:133:99:4123,399,0:127	1|1:0,93:93:99:3126,279,0:127
1	6029086	.	CA	C	7281.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=156;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs34702999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34702999" target="_blank">rs34702999</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.452+60delT;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378156;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000378156;SAVANT_GENE=NPHP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4" target="_blank">NPHP4</a>;SAVANT_INFO=-/129.7kb/30/5.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.452+60delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHP4+c.452+60delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6029086">View</a>	GT:AD:DP:GQ:PL:TP	1|1:3,48:51:91:1122,91,0:99	1|1:3,57:60:99:1200,100,0:99	1|1:1,44:45:99:1021,108,0:99
1	6111721	.	C	T	3377.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs202153711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202153711" target="_blank">rs202153711</a>;ExAC.Info.AC=63;ExAC.Info.AN=19602;ExAC.Info.AF=3.214e-03;ExAC.Info.AC_Het=51;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala42Val/c.125C>T;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378083;SAVANT_GENE=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;SAVANT_INFO=+/55.3kb/16/4.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.125C>T_p.Ala42Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNAB2+c.125C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6111721">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,24:51:99:649,0,746:104	1|0:37,21:58:99:476,0,1140:104	0|0:35,0:35:99:0,105,1185:104
1	6111757	.	G	A	3871.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11589347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11589347" target="_blank">rs11589347</a>;ExAC.Info.AC=320;ExAC.Info.AN=20218;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=251;ExAC.Info.AC_Hom=6;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg54His/c.161G>A;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378083;SAVANT_GENE=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;SAVANT_INFO=+/55.3kb/16/4.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.161G>A_p.Arg54His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNAB2+c.161G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6111757">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,27:56:99:769,0,766:127	0|0:52,0:52:99:0,156,1734:127	1|0:26,15:41:99:373,0,712:127
1	6142308	.	T	C	5374.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=527;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs2227911;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227911" target="_blank">rs2227911</a>;ExAC.Info.AC=11371;ExAC.Info.AN=126704;ExAC.Info.AF=0.090;ExAC.Info.AC_Het=10123;ExAC.Info.AC_Hom=624;snpeff.Effect=sequence_feature[binding_site:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.354T>C;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.354T>C;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp118Asp/c.354T>C;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378083;SAVANT_GENE=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;SAVANT_INFO=+/55.3kb/16/4.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.354T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNAB2+c.354T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6142308">View</a>	GT:AD:DP:GQ:PL:TP	0|0:165,0:165:99:0,496,5154:127	0|1:102,95:197:99:2706,0,2605:127	0|0:165,0:165:99:0,496,5334:127
1	6145365	.	A	G	10198.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs2294936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294936" target="_blank">rs2294936</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.425+57A>G;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378083;SAVANT_GENE=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;SAVANT_INFO=+/55.3kb/16/4.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.425+57A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNAB2+c.425+57A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6145365">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2365,186,0:127	1|0:29,29:58:99:900,0,919:127	1|0:23,25:48:99:839,0,739:127
1	6157221	.	C	T	3923.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs2235791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2235791" target="_blank">rs2235791</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1070-108C>T;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1070C>T;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1070C>T;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378083;SAVANT_GENE=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;SAVANT_INFO=+/55.3kb/16/4.1kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1070-108C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNAB2+c.1070-108C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6157221">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:751,72,0:72	1|0:21,17:38:99:482,0,701:72	1|0:12,4:16:99:105,0,367:72
1	6157434	.	C	T	21949.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs2311802;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2311802" target="_blank">rs2311802</a>;ExAC.Info.AC=25511;ExAC.Info.AN=71194;ExAC.Info.AF=0.358;ExAC.Info.AC_Het=5450;ExAC.Info.AC_Hom=2518;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1158+17C>T;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1159C>T;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1159C>T;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378083;SAVANT_GENE=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;SAVANT_INFO=+/55.3kb/16/4.1kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1158+17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNAB2+c.1158+17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6157434">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:3920,328,0:127	1|0:54,73:127:99:2342,0,1493:127	1|0:57,50:107:99:1464,0,1695:127
1	6158562	.	A	G	21821.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=443;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3)|Nephronophthisis_4|_606966_(3)|_Senior-Loken_syndrome_4|_606996_(3);dbSNP139.ID=rs2229002;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229002" target="_blank">rs2229002</a>;ExAC.Info.AC=72603;ExAC.Info.AN=126628;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=29617;ExAC.Info.AC_Hom=21191;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser392Ser/c.1176A>G;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378083;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378083;SAVANT_GENE=KCNAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNAB2" target="_blank">KCNAB2</a>;SAVANT_INFO=+/55.3kb/16/4.1kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1176A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNAB2+c.1176A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6158562">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4082,396,0:127	1|0:83,85:168:99:2243,0,2406:127	1|0:89,54:143:99:1362,0,2497:127
1	6162054	.	T	C	5140.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6696489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6696489" target="_blank">rs6696489</a>;ExAC.Info.AC=9999;ExAC.Info.AN=16884;ExAC.Info.AF=0.592;ExAC.Info.AC_Het=2890;ExAC.Info.AC_Hom=2358;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=4286;snpeff.Amino_Acid_Change=c.*3480A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*4286A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.*4286A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6162054">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:920,72,0:72	1|0:16,18:34:99:620,0,442:72	1|0:17,10:27:99:351,0,507:72
1	6170424	.	CG	C	13336.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs78789357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78789357" target="_blank">rs78789357</a>;ExAC.Info.AC=63459;ExAC.Info.AN=126612;ExAC.Info.AF=0.501;ExAC.Info.AC_Het=30465;ExAC.Info.AC_Hom=16340;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5382+29delC;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=In37/38;SAVANT_HGVS=c.5382+29delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.5382+29delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6170424">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1982,148,0:101	1|1:0,57:57:99:2174,170,0:101	1|1:0,34:34:99:1291,101,0:101
1	6171992	.	C	A	2504.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs59788818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59788818" target="_blank">rs59788818</a>;ExAC.Info.AC=21711;ExAC.Info.AN=126330;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=15041;ExAC.Info.AC_Hom=1882;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5141-49G>T;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.5141-49G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.5141-49G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6171992">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1170:101	0|1:22,22:44:99:661,0,597:101	0|1:19,20:39:99:611,0,456:101
1	6184092	.	A	G	15967.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2843493;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2843493" target="_blank">rs2843493</a>;ExAC.Info.AC=82505;ExAC.Info.AN=126654;ExAC.Info.AF=0.651;ExAC.Info.AC_Het=26421;ExAC.Info.AC_Hom=27600;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcg/Ccg;snpeff.Amino_Acid_Change=p.Ser1539Pro/c.4615T>C;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4615T>C_p.Ser1539Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.4615T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6184092">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1866,168,0:127	1|1:0,68:68:99:2508,204,0:127	1|1:0,58:58:99:2029,174,0:127
1	6184192	.	A	G	17301.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2273041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273041" target="_blank">rs2273041</a>;ExAC.Info.AC=69219;ExAC.Info.AN=126614;ExAC.Info.AF=0.547;ExAC.Info.AC_Het=28321;ExAC.Info.AC_Hom=19082;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4540-25T>C;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.4540-25T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.4540-25T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6184192">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2015,182,0:127	1|1:0,75:75:99:2804,225,0:127	1|1:0,54:54:99:1948,162,0:127
1	6188779	.	G	C	9064.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2273033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273033" target="_blank">rs2273033</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3620-110C>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3620-110C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.3620-110C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6188779">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1412,117,0:94	1|1:0,33:33:99:1175,99,0:94	1|1:0,32:32:96:1229,96,0:94
1	6196869	.	A	G	15227.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2250358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2250358" target="_blank">rs2250358</a>;ExAC.Info.AC=61291;ExAC.Info.AN=126698;ExAC.Info.AF=0.484;ExAC.Info.AC_Het=29590;ExAC.Info.AC_Hom=15764;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2493A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2493A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2493A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2493A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile831Ile/c.2493T>C;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2493T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.2493T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6196869">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2312,189,0:127	1|1:0,65:65:99:2404,195,0:127	1|1:0,45:45:99:1756,135,0:127
1	6196943	.	A	G	14165.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2746066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2746066" target="_blank">rs2746066</a>;ExAC.Info.AC=60717;ExAC.Info.AN=126630;ExAC.Info.AF=0.479;ExAC.Info.AC_Het=29326;ExAC.Info.AC_Hom=14644;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2437-18T>C;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2437A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2437A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2437A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2437A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2437-18T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.2437-18T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6196943">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1842,129,0:122	1|1:0,47:47:99:2104,144,0:122	1|1:0,40:40:99:1793,123,0:122
1	6196951	.	T	A	12912.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2785582;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2785582" target="_blank">rs2785582</a>;ExAC.Info.AC=60676;ExAC.Info.AN=126608;ExAC.Info.AF=0.479;ExAC.Info.AC_Het=29115;ExAC.Info.AC_Hom=14390;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2437-26A>T;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2437T>A;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2437T>A;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2437T>A;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2437T>A;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2437-26A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.2437-26A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6196951">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1653,114,0:113	1|1:0,43:43:99:1931,132,0:113	1|1:0,36:36:99:1660,114,0:113
1	6204161	.	G	A	1854.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17436816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17436816" target="_blank">rs17436816</a>;ExAC.Info.AC=14411;ExAC.Info.AN=126702;ExAC.Info.AF=0.114;ExAC.Info.AC_Het=12392;ExAC.Info.AC_Hom=1009;snpeff.Effect=sequence_feature[domain:Chromo_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>A;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Chromo_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>A;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Chromo_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>A;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr619Tyr/c.1857C>T;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1857C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.1857C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6204161">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,3031:127	0|0:97,0:97:99:0,291,3238:127	0|1:39,32:71:99:946,0,1090:127
1	6204222	.	C	G	6155.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17489787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17489787" target="_blank">rs17489787</a>;ExAC.Info.AC=17279;ExAC.Info.AN=126702;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=14493;ExAC.Info.AC_Hom=1387;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1803-7G>C;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Chromo_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803C>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Chromo_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803C>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Chromo_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803C>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803G>C;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1803-7G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.1803-7G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6204222">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,34:74:99:1060,0,1207:127	0|0:114,0:114:99:0,343,4052:127	1|0:41,42:83:99:1227,0,1264:127
1	6204266	.	A	G	11545.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs9435102;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9435102" target="_blank">rs9435102</a>;ExAC.Info.AC=74363;ExAC.Info.AN=126692;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=28407;ExAC.Info.AC_Hom=22795;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1803-51T>C;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Chromo_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Chromo_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Chromo_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1803-51T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.1803-51T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6204266">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1701,147,0:127	1|0:42,41:83:99:1193,0,1234:127	1|1:0,53:53:99:1769,159,0:127
1	6209363	.	T	C	12011.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs12565328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12565328" target="_blank">rs12565328</a>;ExAC.Info.AC=49553;ExAC.Info.AN=126658;ExAC.Info.AF=0.391;ExAC.Info.AC_Het=27121;ExAC.Info.AC_Hom=10977;snpeff.Effect=sequence_feature[zinc_finger_region:PHD-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104T>C;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:PHD-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104T>C;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val368Val/c.1104A>G;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1104A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.1104A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6209363">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1715,132,0:127	1|1:0,53:53:99:2123,159,0:127	1|0:24,29:53:99:918,0,650:127
1	6211183	.	G	A	8083.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs9434711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9434711" target="_blank">rs9434711</a>;ExAC.Info.AC=48275;ExAC.Info.AN=126702;ExAC.Info.AF=0.381;ExAC.Info.AC_Het=27260;ExAC.Info.AC_Hom=10445;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe301Phe/c.903C>T;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.903C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.903C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6211183">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1389,126,0:125	1|1:0,44:44:99:1544,132,0:125	1|0:20,18:38:99:482,0,580:125
1	6215736	.	C	G	11043.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=387;MQ=69.97;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12074369;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12074369" target="_blank">rs12074369</a>;ExAC.Info.AC=11961;ExAC.Info.AN=126700;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=9962;ExAC.Info.AC_Hom=991;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu143Leu/c.429G>C;snpeff.Amino_Acid_length=1954;snpeff.Gene_Name=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262450;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262450;SAVANT_GENE=CHD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD5" target="_blank">CHD5</a>;SAVANT_INFO=-/78.3kb/42/9.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.429G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD5+c.429G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6215736">View</a>	GT:AD:DP:GQ:PL:TP	0/1:52,61:113:99:1595,0,1409:127	0/1:96,57:153:99:1493,0,2850:127	0/1:66,55:121:99:1435,0,1898:127
1	6257826	.	T	C	4895.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2294714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294714" target="_blank">rs2294714</a>;ExAC.Info.AC=38996;ExAC.Info.AN=126690;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=25832;ExAC.Info.AC_Hom=6451;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13-10A>G;snpeff.Amino_Acid_length=128;snpeff.Gene_Name=RPL22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL22" target="_blank">RPL22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234875;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234875;SAVANT_GENE=RPL22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL22" target="_blank">RPL22</a>;SAVANT_INFO=-/14.6kb/4/2.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.13-10A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPL22+c.13-10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6257826">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,26:57:99:719,0,804:127	1|0:51,36:87:99:994,0,1483:127	0|0:80,0:80:99:0,240,2641:127
1	6257856	.	G	A	5269.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2294713;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294713" target="_blank">rs2294713</a>;ExAC.Info.AC=60850;ExAC.Info.AN=126564;ExAC.Info.AF=0.481;ExAC.Info.AC_Het=28543;ExAC.Info.AC_Hom=14344;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13-40C>T;snpeff.Amino_Acid_length=128;snpeff.Gene_Name=RPL22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL22" target="_blank">RPL22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234875;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234875;SAVANT_GENE=RPL22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL22" target="_blank">RPL22</a>;SAVANT_INFO=-/14.6kb/4/2.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.13-40C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPL22+c.13-40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6257856">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,32:66:99:778,0,912:127	1|0:56,41:97:99:1069,0,1503:127	0|0:82,0:82:99:0,246,2825:127
1	6269120	.	T	G	83.19	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=74;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;ExAC.Info.AC=25;ExAC.Info.AN=63962;ExAC.Info.AF=3.909e-04;ExAC.Info.AC_Het=22;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RPL22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL22" target="_blank">RPL22</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.469+35T>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL22" target="_blank">RPL22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377939;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377939;SAVANT_GENE=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;SAVANT_INFO=+/15.1kb/18/3.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.469+35T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF207+c.469+35T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6269120">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,5:19:51:51,0,434:24	0|0:27,3:30:25:0,25,872:24	1|0:20,5:25:19:19,0,586:24
1	6269340	.	A	G	3336.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4908865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4908865" target="_blank">rs4908865</a>;ExAC.Info.AC=3664;ExAC.Info.AN=84184;ExAC.Info.AF=0.044;ExAC.Info.AC_Het=1496;ExAC.Info.AC_Hom=140;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RPL22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL22" target="_blank">RPL22</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala188Ala/c.564A>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL22" target="_blank">RPL22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377939;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377939;SAVANT_GENE=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;SAVANT_INFO=+/15.1kb/18/3.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.564A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF207+c.564A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6269340">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,18:35:99:590,0,458:127	0|0:50,0:50:99:0,150,1738:127	1|0:8,14:22:99:439,0,233:127
1	6272137	.	A	G	7398.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs709208;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=709208" target="_blank">rs709208</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1296+24A>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377939;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1297A>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377939;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1297A>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377939;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377939;SAVANT_GENE=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;SAVANT_INFO=+/15.1kb/18/3.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1296+24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF207+c.1296+24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6272137">View</a>	GT:AD:DP:GQ:PL:TP	1|1:3,60:63:98:1563,98,0:97	1|0:34,28:62:99:591,0,1046:97	1|0:34,27:61:99:568,0,945:97
1	6273206	.	C	T	14490.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=568;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55823245;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55823245" target="_blank">rs55823245</a>;ExAC.Info.AC=1903;ExAC.Info.AN=125504;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1842;ExAC.Info.AC_Hom=27;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg539Cys/c.1615C>T;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377939;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377939;SAVANT_GENE=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;SAVANT_INFO=+/15.1kb/18/3.9kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1615C>T_p.Arg539Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF207+c.1615C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6273206">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,84:164:99:2416,0,2158:127	0|0:254,0:254:99:0,763,8390:127	1|0:75,75:150:99:2134,0,2075:127
1	6278414	.	A	G	20481.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs709209;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=709209" target="_blank">rs709209</a>;ExAC.Info.AC=45168;ExAC.Info.AN=125584;ExAC.Info.AF=0.360;ExAC.Info.AC_Het=26808;ExAC.Info.AC_Hom=8990;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn573Ser/c.1718A>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377939;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377939;SAVANT_GENE=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;SAVANT_INFO=+/15.1kb/18/3.9kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1718A>G_p.Asn573Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF207+c.1718A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6278414">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3637,330,0:127	1|0:72,86:158:99:2566,0,1893:127	1|0:66,40:106:99:1110,0,1863:127
1	6279370	.	G	C	2436.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs846111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=846111" target="_blank">rs846111</a>;cosmic68.Histology_subtype=ductal_carcinoma;ExAC.Info.AC=29405;ExAC.Info.AN=125178;ExAC.Info.AF=0.235;ExAC.Info.AC_Het=21605;ExAC.Info.AC_Hom=3853;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gCc;snpeff.Amino_Acid_Change=p.Gly603Ala/c.1808G>C;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377939;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377939;SAVANT_GENE=RNF207;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF207" target="_blank">RNF207</a>;SAVANT_INFO=+/15.1kb/18/3.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.1808G>C_p.Gly603Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF207+c.1808G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6279370">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,12:35:99:329,0,769:38	1|0:20,17:37:99:479,0,556:38	0|0:25,1:26:38:0,38,963:38
1	6305292	.	C	A	1454.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61760836;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61760836" target="_blank">rs61760836</a>;ExAC.Info.AC=37276;ExAC.Info.AN=65962;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=2657;ExAC.Info.AC_Hom=2342;snpeff.Effect=TF_binding_site_variant[MA0139.1:CTCF];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Orange];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.286C>A;snpeff.Amino_Acid_length=186;snpeff.Gene_Name=HES3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HES3" target="_blank">HES3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377898;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Acc;snpeff.Amino_Acid_Change=p.Pro96Thr/c.286C>A;snpeff.Amino_Acid_length=186;snpeff.Gene_Name=HES3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HES3" target="_blank">HES3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377898;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377898;SAVANT_GENE=HES3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HES3" target="_blank">HES3</a>;SAVANT_INFO=+/1.4kb/4/0.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.286C>A_p.Pro96Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HES3+c.286C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6305292">View</a>	GT:AD:DP:GQ:PL:TP	0|0:22,0:22:66:0,66,772:66	0|1:9,20:29:99:556,0,215:66	0|1:12,8:20:99:191,0,371:66
1	6305303	.	C	A	1436.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=68;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs61760837;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61760837" target="_blank">rs61760837</a>;ExAC.Info.AC=35523;ExAC.Info.AN=60552;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=2481;ExAC.Info.AC_Hom=2218;snpeff.Effect=sequence_feature[domain:Orange];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>A;snpeff.Amino_Acid_length=186;snpeff.Gene_Name=HES3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HES3" target="_blank">HES3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377898;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcA;snpeff.Amino_Acid_Change=p.Ala99Ala/c.297C>A;snpeff.Amino_Acid_length=186;snpeff.Gene_Name=HES3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HES3" target="_blank">HES3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377898;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377898;SAVANT_GENE=HES3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HES3" target="_blank">HES3</a>;SAVANT_INFO=+/1.4kb/4/0.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.297C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HES3+c.297C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6305303">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,841:72	0|1:7,17:24:99:541,0,167:72	0|1:12,8:20:99:197,0,325:72
1	6313938	.	C	T	2334.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12735670;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12735670" target="_blank">rs12735670</a>;ExAC.Info.AC=86943;ExAC.Info.AN=125162;ExAC.Info.AF=0.695;ExAC.Info.AC_Het=23893;ExAC.Info.AC_Hom=28187;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>T;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=GPR153;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR153" target="_blank">GPR153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg209His/c.626G>A;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=GPR153;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR153" target="_blank">GPR153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377893;SAVANT_GENE=GPR153;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR153" target="_blank">GPR153</a>;SAVANT_INFO=-/13.6kb/6/4.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.626G>A_p.Arg209His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR153+c.626G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6313938">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,2007:127	0|1:21,27:48:99:821,0,558:127	0|1:26,14:40:99:366,0,815:127
1	6314822	.	T	C	4180.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11590458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11590458" target="_blank">rs11590458</a>;ExAC.Info.AC=89640;ExAC.Info.AN=126638;ExAC.Info.AF=0.708;ExAC.Info.AC_Het=25559;ExAC.Info.AC_Hom=31843;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144T>C;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=GPR153;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR153" target="_blank">GPR153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377893;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr48Thr/c.144A>G;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=GPR153;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR153" target="_blank">GPR153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377893;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377893;SAVANT_GENE=GPR153;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR153" target="_blank">GPR153</a>;SAVANT_INFO=-/13.6kb/6/4.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.144A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR153+c.144A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6314822">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,1967:127	0|1:31,53:84:99:1372,0,771:127	0|1:26,27:53:99:738,0,630:127
1	6355065	.	G	C	3048.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs35553413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35553413" target="_blank">rs35553413</a>;ExAC.Info.AC=19868;ExAC.Info.AN=126684;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=15273;ExAC.Info.AC_Hom=2206;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.743-25C>G;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=ACOT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT7" target="_blank">ACOT7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377855;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743G>C;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=ACOT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT7" target="_blank">ACOT7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377855;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743G>C;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=ACOT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT7" target="_blank">ACOT7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377855;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Acyl_coenzyme_A_hydrolase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743G>C;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=ACOT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT7" target="_blank">ACOT7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377855;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Acyl_coenzyme_A_hydrolase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743G>C;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=ACOT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT7" target="_blank">ACOT7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377855;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Acyl_coenzyme_A_hydrolase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743G>C;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=ACOT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT7" target="_blank">ACOT7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377855;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377855;SAVANT_GENE=ACOT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT7" target="_blank">ACOT7</a>;SAVANT_INFO=-/121.5kb/9/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.743-25C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT7+c.743-25C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6355065">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2285:127	0|0:87,1:88:99:0,222,3147:127	0|1:41,51:92:99:1543,0,1281:127
1	6387572	.	G	A	2334.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4908880;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4908880" target="_blank">rs4908880</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.541-99C>T;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=ACOT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT7" target="_blank">ACOT7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377855;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377855;SAVANT_GENE=ACOT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT7" target="_blank">ACOT7</a>;SAVANT_INFO=-/121.5kb/9/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.541-99C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT7+c.541-99C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6387572">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,288,3358:127	0|0:148,0:148:99:0,444,5091:127	0|1:40,42:82:99:1186,0,1270:127
1	6453520	.	C	CG	1180.55	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=8;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs76483502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76483502" target="_blank">rs76483502</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ACOT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT7" target="_blank">ACOT7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT7" target="_blank">ACOT7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6453520">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,2:2:6:81,6,0:5	1|1:0,4:4:12:162,12,0:5	1|1:0,2:2:6:81,6,0:5
1	6473294	.	A	G	2136.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7529205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7529205" target="_blank">rs7529205</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=4647;ExAC.Info.AN=27052;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=2697;ExAC.Info.AC_Hom=459;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HES2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HES2" target="_blank">HES2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HES2" target="_blank">HES2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HES2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6473294">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,234,2605:127	0|0:88,1:89:99:0,231,3165:127	0|1:44,36:80:99:1087,0,1330:127
1	6509175	.	C	T	766.63	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=114;MQ=66.64;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Deafness|_autosomal_recessive_36|_609006_(3)|_Deafness|_neurosensory|_without_vestibular_involvement|_autosomal_dominant_(3)|Deafness|_autosomal_recessive_36|_609006_(3)|_Deafness|_neurosensory|_without_vestibular_involvement|_autosomal_dominant_(3);ExAC.Info.AC=1;ExAC.Info.AN=62858;ExAC.Info.AF=1.591e-05;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1915+24C>T;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916C>T;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916C>T;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916C>T;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916C>T;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377828;SAVANT_GENE=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;SAVANT_INFO=+/36.2kb/13/3.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1915+24C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPN+c.1915+24C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6509175">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,5:35:99:114,0,1309:68	0|0:51,2:53:69:0,69,2174:68	1|0:24,2:26:12:12,0,1000:68
1	6509177	.	T	G	766.63	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=114;MQ=66.64;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Deafness|_autosomal_recessive_36|_609006_(3)|_Deafness|_neurosensory|_without_vestibular_involvement|_autosomal_dominant_(3)|Deafness|_autosomal_recessive_36|_609006_(3)|_Deafness|_neurosensory|_without_vestibular_involvement|_autosomal_dominant_(3);ExAC.Info.AC=1;ExAC.Info.AN=63060;ExAC.Info.AF=1.586e-05;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1915+26T>G;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916T>G;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916T>G;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916T>G;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916T>G;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377828;SAVANT_GENE=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;SAVANT_INFO=+/36.2kb/13/3.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1915+26T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPN+c.1915+26T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6509177">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,5:37:99:114,0,1309:68	0|0:49,2:51:69:0,69,2174:68	1|0:24,2:26:12:12,0,1000:68
1	6509244	.	C	G	786.54	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=176;MQ=61.96;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Deafness|_autosomal_recessive_36|_609006_(3)|_Deafness|_neurosensory|_without_vestibular_involvement|_autosomal_dominant_(3)|Deafness|_autosomal_recessive_36|_609006_(3)|_Deafness|_neurosensory|_without_vestibular_involvement|_autosomal_dominant_(3);dbSNP139.ID=rs76747981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76747981" target="_blank">rs76747981</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1915+93C>G;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916C>G;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916C>G;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916C>G;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916C>G;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377828;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377828;SAVANT_GENE=ESPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPN" target="_blank">ESPN</a>;SAVANT_INFO=+/36.2kb/13/3.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1915+93C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPN+c.1915+93C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6509244">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,14:62:99:196,0,1277:3	0|0:60,7:67:0:0,0,1703:3	1|0:38,9:47:99:135,0,1140:3
1	6530965	.	C	CG	8766.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spinal_muscular_atrophy|_distal|_autosomal_recessive|_4|_611067_(3)|_Charcot-Marie-Tooth_disease|_recessive_intermediate_C|_615376_(3)|Spinal_muscular_atrophy|_distal|_autosomal_recessive|_4|_611067_(3)|_Charcot-Marie-Tooth_disease|_recessive_intermediate_C|_615376_(3);dbSNP139.ID=rs111312565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111312565" target="_blank">rs111312565</a>;ExAC.Info.AC=102434;ExAC.Info.AN=102460;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=12637;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1630-21_1630-22insC;snpeff.Amino_Acid_length=1085;snpeff.Gene_Name=PLEKHG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG5" target="_blank">PLEKHG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537245;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insG;snpeff.Amino_Acid_length=1085;snpeff.Gene_Name=PLEKHG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG5" target="_blank">PLEKHG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537245;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insG;snpeff.Amino_Acid_length=1085;snpeff.Gene_Name=PLEKHG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG5" target="_blank">PLEKHG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537245;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insG;snpeff.Amino_Acid_length=1085;snpeff.Gene_Name=PLEKHG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG5" target="_blank">PLEKHG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537245;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insG;snpeff.Amino_Acid_length=1085;snpeff.Gene_Name=PLEKHG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG5" target="_blank">PLEKHG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537245;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insG;snpeff.Amino_Acid_length=1085;snpeff.Gene_Name=PLEKHG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG5" target="_blank">PLEKHG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537245;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insG;snpeff.Amino_Acid_length=1085;snpeff.Gene_Name=PLEKHG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG5" target="_blank">PLEKHG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537245;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000377748;SAVANT_GENE=PLEKHG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG5" target="_blank">PLEKHG5</a>;SAVANT_INFO=-/53.9kb/22/5.2kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1624-22dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHG5+c.1624-22dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6530965">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:84:940,84,0:83	1|1:0,40:40:99:1353,123,0:83	1|1:0,28:28:84:941,84,0:83
1	6579607	.	C	T	29064.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1556035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1556035" target="_blank">rs1556035</a>;ExAC.Info.AC=106789;ExAC.Info.AN=125396;ExAC.Info.AF=0.852;ExAC.Info.AC_Het=14290;ExAC.Info.AC_Hom=46136;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PLEKHG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG5" target="_blank">PLEKHG5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377748;SAVANT_GENE=PLEKHG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHG5" target="_blank">PLEKHG5</a>;SAVANT_INFO=-/53.9kb/22/5.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-36G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHG5+c.-36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6579607">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:4247,379,0:127	1|1:0,157:157:99:5558,472,0:127	1|1:0,93:93:99:3274,280,0:127
1	6586070	.	C	T	30486.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7548042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7548042" target="_blank">rs7548042</a>;ExAC.Info.AC=125887;ExAC.Info.AN=126700;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=757;ExAC.Info.AC_Hom=62546;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1960-7G>A;snpeff.Amino_Acid_length=702;snpeff.Gene_Name=NOL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOL9" target="_blank">NOL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377705;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377705;SAVANT_GENE=NOL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOL9" target="_blank">NOL9</a>;SAVANT_INFO=-/33.2kb/12/6.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1960-7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOL9+c.1960-7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6586070">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:3888,346,0:127	1|1:0,128:128:99:4526,385,0:127	1|1:0,130:130:99:4532,390,0:127
1	6614391	.	A	C	6234.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6693391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6693391" target="_blank">rs6693391</a>;ExAC.Info.AC=63389;ExAC.Info.AN=65330;ExAC.Info.AF=0.970;ExAC.Info.AC_Het=193;ExAC.Info.AC_Hom=4686;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Gcc;snpeff.Amino_Acid_Change=p.Ser58Ala/c.172T>G;snpeff.Amino_Acid_length=702;snpeff.Gene_Name=NOL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOL9" target="_blank">NOL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377705;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377705;SAVANT_GENE=NOL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOL9" target="_blank">NOL9</a>;SAVANT_INFO=-/33.2kb/12/6.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.172T>G_p.Ser58Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOL9+c.172T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6614391">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,18:18:54:771,54,0:41	1|1:0,22:22:69:997,69,0:41	1|1:0,12:12:42:595,42,0:41
1	6614415	.	A	G	6369.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=59;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6693400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6693400" target="_blank">rs6693400</a>;ExAC.Info.AC=65334;ExAC.Info.AN=66218;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=144;ExAC.Info.AC_Hom=8347;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp50Arg/c.148T>C;snpeff.Amino_Acid_length=702;snpeff.Gene_Name=NOL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOL9" target="_blank">NOL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377705;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377705;SAVANT_GENE=NOL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOL9" target="_blank">NOL9</a>;SAVANT_INFO=-/33.2kb/12/6.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.148T>C_p.Trp50Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOL9+c.148T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6614415">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:806,57,0:47	1|1:0,24:24:72:981,72,0:47	1|1:0,16:16:48:655,48,0:47
1	6614535	.	G	A	8331.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4908923;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4908923" target="_blank">rs4908923</a>;ExAC.Info.AC=93811;ExAC.Info.AN=113336;ExAC.Info.AF=0.828;ExAC.Info.AC_Het=12743;ExAC.Info.AC_Hom=35926;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg10Trp/c.28C>T;snpeff.Amino_Acid_length=702;snpeff.Gene_Name=NOL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOL9" target="_blank">NOL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377705;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377705;SAVANT_GENE=NOL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOL9" target="_blank">NOL9</a>;SAVANT_INFO=-/33.2kb/12/6.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.28C>T_p.Arg10Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOL9+c.28C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6614535">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1213,116,0:68	1|1:1,39:40:99:1281,109,0:68	1|1:0,23:23:69:776,69,0:68
1	6615690	.	A	G	19085.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs925745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=925745" target="_blank">rs925745</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.191+66A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333172;SAVANT_GENE=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;SAVANT_INFO=+/24.6kb/6/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.191+66A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R1+c.191+66A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6615690">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2804,190,0:127	1|1:0,71:71:99:3155,214,0:127	1|1:0,62:62:99:2824,190,0:127
1	6615695	.	C	T	18778.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs925744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=925744" target="_blank">rs925744</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.191+71C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333172;SAVANT_GENE=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;SAVANT_INFO=+/24.6kb/6/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.191+71C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R1+c.191+71C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6615695">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2804,190,0:127	1|1:0,67:67:99:3109,211,0:127	1|1:0,60:60:99:2779,187,0:127
1	6635231	.	A	G	29632.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10864628;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10864628" target="_blank">rs10864628</a>;ExAC.Info.AC=123759;ExAC.Info.AN=126616;ExAC.Info.AF=0.977;ExAC.Info.AC_Het=2166;ExAC.Info.AC_Hom=59221;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1039A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1039A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1039A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1039A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1039A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1039A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys347Glu/c.1039A>G;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333172;SAVANT_GENE=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;SAVANT_INFO=+/24.6kb/6/2.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1039A>G_p.Lys347Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R1+c.1039A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6635231">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3843,312,0:127	1|1:0,123:123:99:4558,370,0:127	1|1:0,109:109:99:4002,327,0:127
1	6636461	.	C	T	28048.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs17492553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17492553" target="_blank">rs17492553</a>;ExAC.Info.AC=60169;ExAC.Info.AN=126702;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=30315;ExAC.Info.AC_Hom=14916;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1261-14C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261C>T;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333172;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333172;SAVANT_GENE=TAS1R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R1" target="_blank">TAS1R1</a>;SAVANT_INFO=+/24.6kb/6/2.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1261-14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R1+c.1261-14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6636461">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3247,294,0:127	1|1:0,137:137:99:4711,412,0:127	1|1:0,113:113:99:4148,339,0:127
1	6641348	.	G	A	2838.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72634778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72634778" target="_blank">rs72634778</a>;ExAC.Info.AC=1086;ExAC.Info.AN=126388;ExAC.Info.AF=8.593e-03;ExAC.Info.AC_Het=1030;ExAC.Info.AC_Hom=11;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly227Ser/c.679G>A;snpeff.Amino_Acid_length=688;snpeff.Gene_Name=ZBTB48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB48" target="_blank">ZBTB48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377674;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377674;SAVANT_GENE=ZBTB48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB48" target="_blank">ZBTB48</a>;SAVANT_INFO=+/9.2kb/11/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.679G>A_p.Gly227Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB48+c.679G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6641348">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,15:30:99:438,0,418:69	1|0:18,24:42:99:689,0,484:69	0|0:23,0:23:69:0,69,815:69
1	6646959	.	GCCTGCCTTC	G	15542.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3833475;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3833475" target="_blank">rs3833475</a>;ExAC.Info.AC=31658;ExAC.Info.AN=69284;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=4225;ExAC.Info.AC_Hom=5082;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1137+113_1137+121delCCTGCCTTC;snpeff.Amino_Acid_length=688;snpeff.Gene_Name=ZBTB48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB48" target="_blank">ZBTB48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377674;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138_1146delCCTGCCTTC;snpeff.Amino_Acid_length=688;snpeff.Gene_Name=ZBTB48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB48" target="_blank">ZBTB48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377674;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138_1146delCCTGCCTTC;snpeff.Amino_Acid_length=688;snpeff.Gene_Name=ZBTB48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB48" target="_blank">ZBTB48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377674;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000377674;SAVANT_GENE=ZBTB48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB48" target="_blank">ZBTB48</a>;SAVANT_INFO=+/9.2kb/11/2.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1137+130_1137+138del9;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB48+c.1137+130_1137+138del9+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6646959">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:2220,152,0:127	1|0:43,49:92:99:1924,0,2257:127	1|0:28,30:58:99:1126,0,1269:127
1	6681375	.	C	T	3265.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6695474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6695474" target="_blank">rs6695474</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.677-96C>T;snpeff.Amino_Acid_length=300;snpeff.Gene_Name=PHF13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHF13" target="_blank">PHF13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377648;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377648;SAVANT_GENE=PHF13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHF13" target="_blank">PHF13</a>;SAVANT_INFO=+/10.3kb/4/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.677-96C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHF13+c.677-96C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6681375">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,21:45:99:534,0,754:76	1|0:21,27:48:99:828,0,637:76	0|0:39,2:41:76:0,76,1390:76
1	6685416	.	G	C	404.77	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=33;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs143084975;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=143084975" target="_blank">rs143084975</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.74+64G>C;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=THAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THAP3" target="_blank">THAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054650;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:THAP-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.75G>C;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=THAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THAP3" target="_blank">THAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054650;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:THAP-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.75G>C;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=THAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THAP3" target="_blank">THAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054650;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054650;SAVANT_GENE=THAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THAP3" target="_blank">THAP3</a>;SAVANT_INFO=+/8.7kb/6/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.74+64G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THAP3+c.74+64G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6685416">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:27:0,27,317:25	0|1:7,7:14:99:221,0,213:25	0|0:10,0:10:30:0,30,411:25
1	6695802	.	A	G	18402.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=357;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs6577583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6577583" target="_blank">rs6577583</a>;ExAC.Info.AC=85174;ExAC.Info.AN=126704;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=27029;ExAC.Info.AC_Hom=29015;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1655-42T>C;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=DNAJC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC11" target="_blank">DNAJC11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377577;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377577;SAVANT_GENE=DNAJC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC11" target="_blank">DNAJC11</a>;SAVANT_INFO=-/67.8kb/16/3.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1655-42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC11+c.1655-42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6695802">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,99:99:99:3645,298,0:127	1|0:73,71:144:99:2190,0,2101:127	1|0:56,58:114:99:1779,0,1822:127
1	6700131	.	CA	C	437.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=32;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1098-15delT;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=DNAJC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC11" target="_blank">DNAJC11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377577;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000377577;SAVANT_GENE=DNAJC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC11" target="_blank">DNAJC11</a>;SAVANT_INFO=-/67.8kb/16/3.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1098-15delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC11+c.1098-15delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6700131">View</a>	GT:AD:DP:GQ:PL:TP	0/1:6,3:9:31:31,0,92:29	0/1:3,7:10:36:106,0,36:29	0/1:7,6:13:82:82,0,101:29
1	6704635	.	A	G	21635.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=304;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs200458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200458" target="_blank">rs200458</a>;ExAC.Info.AC=111808;ExAC.Info.AN=126704;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=12256;ExAC.Info.AC_Hom=49763;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly360Gly/c.1080T>C;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=DNAJC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC11" target="_blank">DNAJC11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377577;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377577;SAVANT_GENE=DNAJC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC11" target="_blank">DNAJC11</a>;SAVANT_INFO=-/67.8kb/16/3.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1080T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC11+c.1080T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6704635">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3067,279,0:127	1|1:0,121:121:99:4220,364,0:127	1|0:52,38:90:99:1117,0,1553:127
1	6705874	.	G	C	3517.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs200454;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200454" target="_blank">rs200454</a>;ExAC.Info.AC=27765;ExAC.Info.AN=126704;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=19851;ExAC.Info.AC_Hom=3935;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aGc;snpeff.Amino_Acid_Change=p.Thr290Ser/c.869C>G;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=DNAJC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC11" target="_blank">DNAJC11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377577;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377577;SAVANT_GENE=DNAJC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC11" target="_blank">DNAJC11</a>;SAVANT_INFO=-/67.8kb/16/3.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.869C>G_p.Thr290Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC11+c.869C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6705874">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,352,4113:127	0|1:65,57:122:99:1778,0,1967:127	0|0:88,0:88:99:0,265,3287:127
1	6711146	.	T	C	5502.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12145525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12145525" target="_blank">rs12145525</a>;ExAC.Info.AC=40726;ExAC.Info.AN=120584;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=25976;ExAC.Info.AC_Hom=7183;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.704+443A>G;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=DNAJC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC11" target="_blank">DNAJC11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377577;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377577;SAVANT_GENE=DNAJC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC11" target="_blank">DNAJC11</a>;SAVANT_INFO=-/67.8kb/16/3.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.704+443A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC11+c.704+443A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6711146">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,37:69:99:1087,0,870:127	0|0:80,0:80:99:0,240,2801:127	1|0:39,30:69:99:781,0,1182:127
1	6947717	.	C	T	2966.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=515;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Cerebellar_ataxia|_nonprogressive|_with_mental_retardation|_614756_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3810982;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3810982" target="_blank">rs3810982</a>;ExAC.Info.AC=2442;ExAC.Info.AN=15850;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=1756;ExAC.Info.AC_Hom=230;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234+62447C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.234+62447C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.234+62447C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:6947717">View</a>	GT:AD:DP:GQ:PL:TP	0|0:175,0:175:99:0,525,6250:127	0|0:205,0:205:99:0,616,7270:127	0|1:79,56:135:99:1502,0,2470:127
1	7151479	.	T	C	15714.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs72640073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72640073" target="_blank">rs72640073</a>;ExAC.Info.AC=17885;ExAC.Info.AN=126698;ExAC.Info.AF=0.141;ExAC.Info.AC_Het=14864;ExAC.Info.AC_Hom=1397;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.302+48T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.302+48T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.302+48T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7151479">View</a>	GT:AD:DP:GQ:PL:TP	0/1:57,71:128:99:2212,0,1554:127	0/1:88,71:159:99:2036,0,2570:127	0/1:69,92:161:99:2472,0,1830:127
1	7202190	.	T	C	5126.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs970973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=970973" target="_blank">rs970973</a>;ExAC.Info.AC=63009;ExAC.Info.AN=117092;ExAC.Info.AF=0.538;ExAC.Info.AC_Het=28017;ExAC.Info.AC_Hom=17017;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.302+50759T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.302+50759T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.302+50759T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7202190">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,29:64:99:845,0,947:127	1|0:32,39:71:99:1042,0,904:127	0|0:83,0:83:99:0,249,2651:127
1	7289777	.	G	A	4782.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4243824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4243824" target="_blank">rs4243824</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.303-19774G>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303G>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303G>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303G>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303G>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303G>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.303-19774G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.303-19774G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7289777">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:995,90,0:71	1|0:10,11:21:99:256,0,271:71	1|1:0,24:24:72:784,72,0:71
1	7527824	.	C	T	2006.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72642857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72642857" target="_blank">rs72642857</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.439-66C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.439-66C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.439-66C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7527824">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,3251:127	0|0:124,0:124:99:0,373,4498:127	0|1:54,35:89:99:1022,0,1692:127
1	7527996	.	T	C	13757.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1201529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1201529" target="_blank">rs1201529</a>;ExAC.Info.AC=63075;ExAC.Info.AN=126700;ExAC.Info.AF=0.498;ExAC.Info.AC_Het=29378;ExAC.Info.AC_Hom=16814;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.510+35T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.510+35T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.510+35T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7527996">View</a>	GT:AD:DP:GQ:PL:TP	0|1:76,62:138:99:1805,0,2184:127	1|1:0,128:128:99:4461,384,0:127	0|0:175,0:175:99:0,526,6467:127
1	7624970	.	A	G	2876.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7556160;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7556160" target="_blank">rs7556160</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.511-75490A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:CG-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.511-75490A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.511-75490A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7624970">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,16:32:99:461,0,411:127	1|0:23,22:45:99:707,0,657:127	0|0:43,0:43:99:0,129,1370:127
1	7723588	.	C	T	2850.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3737906;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737906" target="_blank">rs3737906</a>;ExAC.Info.AC=13423;ExAC.Info.AN=126692;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=11354;ExAC.Info.AC_Hom=1001;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116538;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn327Asn/c.981C>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.981C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.981C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7723588">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116538" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,298,3582:127	0|0:126,0:126:99:0,379,4598:127	0|1:28,47:75:99:1444,0,797:127
1	7723957	.	G	A	16877.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=483;MQ=69.96;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12128526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12128526" target="_blank">rs12128526</a>;ExAC.Info.AC=56311;ExAC.Info.AN=126704;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=30629;ExAC.Info.AC_Hom=12802;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116536;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser450Ser/c.1350G>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1350G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.1350G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7723957">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116536" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:81,64:145:99:1865,0,2494:127	0/1:115,88:203:99:2659,0,3326:127	0/1:65,70:135:99:2146,0,1905:127
1	7725284	.	C	A	3553.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4908671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4908671" target="_blank">rs4908671</a>;ExAC.Info.AC=34634;ExAC.Info.AN=111702;ExAC.Info.AF=0.310;ExAC.Info.AC_Het=20203;ExAC.Info.AC_Hom=5869;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2652+25C>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:IPT/TIG];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2653C>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:IPT/TIG];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2653C>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:IPT/TIG];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2653C>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.2652+25C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.2652+25C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7725284">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,21:49:99:540,0,951:127	0/1:26,19:45:99:588,0,792:127	0/1:16,7:23:99:206,0,521:127
1	7737799	.	A	G	28137.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=852;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3011926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3011926" target="_blank">rs3011926</a>;ExAC.Info.AC=69401;ExAC.Info.AN=126682;ExAC.Info.AF=0.548;ExAC.Info.AC_Het=30668;ExAC.Info.AC_Hom=19194;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2914+6A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2915A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2914+6A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.2914+6A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7737799">View</a>	GT:AD:DP:GQ:PL:TP	0/1:114,140:254:99:4415,0,2907:127	0/1:145,164:309:99:5003,0,4106:127	0/1:156,133:289:99:3915,0,4435:127
1	7796641	.	A	G	3440.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=425;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2071985;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2071985" target="_blank">rs2071985</a>;ExAC.Info.AC=67273;ExAC.Info.AN=126688;ExAC.Info.AF=0.531;ExAC.Info.AC_Het=30624;ExAC.Info.AC_Hom=18216;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3263+41A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3264A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3264A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.3263+41A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.3263+41A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7796641">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,423,4861:127	0|0:169,1:170:99:0,468,5804:127	0|1:56,58:114:99:1739,0,1606:127
1	7805208	.	G	T	7812.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2071986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2071986" target="_blank">rs2071986</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4370+126G>T;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.4370+126G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.4370+126G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7805208">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,277,3501:127	0|1:61,85:146:99:2391,0,1835:127	0|1:56,53:109:99:1535,0,1755:127
1	7807897	.	A	G	7524.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12133253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12133253" target="_blank">rs12133253</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4689+56A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:IQ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4690A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:IQ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4690A>G;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.4689+56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.4689+56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7807897">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,289,3356:127	0|1:89,81:170:99:2224,0,2523:127	0|1:66,57:123:99:1558,0,1998:127
1	7811014	.	G	A	4519.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1573753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1573753" target="_blank">rs1573753</a>;ExAC.Info.AC=45026;ExAC.Info.AN=82696;ExAC.Info.AF=0.544;ExAC.Info.AC_Het=3967;ExAC.Info.AC_Hom=3659;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4690-245G>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:IQ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4690G>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:IQ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4690G>A;snpeff.Amino_Acid_length=1673;snpeff.Gene_Name=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303635;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303635;SAVANT_GENE=CAMTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMTA1" target="_blank">CAMTA1</a>;SAVANT_INFO=+/982.5kb/23/6.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.4690-245G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMTA1+c.4690-245G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7811014">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,160,2227:127	0|1:56,38:94:99:1123,0,1899:127	0|1:47,38:85:99:1157,0,1592:127
1	7833485	.	G	A	5830.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=731;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11576572;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11576572" target="_blank">rs11576572</a>;ExAC.Info.AC=29107;ExAC.Info.AN=126702;ExAC.Info.AF=0.230;ExAC.Info.AC_Het=21433;ExAC.Info.AC_Hom=3814;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3-17G>A;snpeff.Amino_Acid_length=100;snpeff.Gene_Name=VAMP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAMP3" target="_blank">VAMP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054666;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[initiator_methionine:Removed];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.3G>A;snpeff.Amino_Acid_length=100;snpeff.Gene_Name=VAMP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAMP3" target="_blank">VAMP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054666;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[initiator_methionine:Removed];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.3G>A;snpeff.Amino_Acid_length=100;snpeff.Gene_Name=VAMP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAMP3" target="_blank">VAMP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054666;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054666;SAVANT_GENE=VAMP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAMP3" target="_blank">VAMP3</a>;SAVANT_INFO=+/10.2kb/5/2.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.3-17G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAMP3+c.3-17G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7833485">View</a>	GT:AD:DP:GQ:PL:TP	0|0:190,0:190:99:0,571,6787:127	0|1:166,113:279:99:2934,0,5046:127	0|0:261,1:262:99:0,757,9458:127
1	7847529	.	A	G	5099.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2859390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2859390" target="_blank">rs2859390</a>;ExAC.Info.AC=23137;ExAC.Info.AN=115568;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=13268;ExAC.Info.AC_Hom=2190;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.391-576A>G;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.391A>G;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.391A>G;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361923;SAVANT_GENE=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;SAVANT_INFO=+/60.5kb/21/6.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.391-576A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PER3+c.391-576A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7847529">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1056,96,0:96	1|0:21,19:40:99:575,0,580:96	1|0:24,22:46:99:592,0,657:96
1	7861153	.	C	CT	1229.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34433622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34433622" target="_blank">rs34433622</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.794-19_794-18insT;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.794_795insT;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.794_795insT;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.794_795insT;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.794_795insT;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000361923;SAVANT_GENE=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;SAVANT_INFO=+/60.5kb/21/6.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.791-17dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PER3+c.791-17dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7861153">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1108:94	0|1:22,23:45:99:638,0,590:94	0|0:32,0:32:96:0,96,1080:94
1	7863051	.	A	T	1348.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72632072;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72632072" target="_blank">rs72632072</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.873-56A>T;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873A>T;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873A>T;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873A>T;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873A>T;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361923;SAVANT_GENE=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;SAVANT_INFO=+/60.5kb/21/6.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.870-56A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PER3+c.870-56A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7863051">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1447:123	0|1:29,24:53:99:693,0,884:123	0|0:69,0:69:99:0,208,2515:123
1	7870048	.	T	C	11250.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs228669;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=228669" target="_blank">rs228669</a>;ExAC.Info.AC=113013;ExAC.Info.AN=126704;ExAC.Info.AF=0.892;ExAC.Info.AC_Het=10696;ExAC.Info.AC_Hom=51131;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser446Ser/c.1338T>C;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361923;SAVANT_GENE=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;SAVANT_INFO=+/60.5kb/21/6.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1335T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PER3+c.1335T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7870048">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1615,132,0:101	1|1:0,46:46:99:1628,138,0:101	1|1:0,34:34:99:1242,102,0:101
1	7870144	.	A	C	9003.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs228670;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=228670" target="_blank">rs228670</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1371+63A>C;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361923;SAVANT_GENE=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;SAVANT_INFO=+/60.5kb/21/6.2kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1368+63A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PER3+c.1368+63A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7870144">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1164,93,0:101	1|1:0,40:40:99:1373,120,0:101	1|1:0,34:34:99:1240,102,0:101
1	7887248	.	G	A	11837.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2859387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2859387" target="_blank">rs2859387</a>;ExAC.Info.AC=53852;ExAC.Info.AN=126194;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=27582;ExAC.Info.AC_Hom=12481;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.155C>T;snpeff.Gene_Name=RP3-467L1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-467L14" target="_blank">RP3-467L14</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Nuclear_localization_signal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2259G>A;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-467L14" target="_blank">RP3-467L14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro753Pro/c.2259G>A;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-467L14" target="_blank">RP3-467L14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361923;SAVANT_GENE=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;SAVANT_INFO=+/60.5kb/21/6.2kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2235G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PER3+c.2235G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7887248">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1831,171,0:127	1|0:29,40:69:99:1194,0,758:127	1|1:0,44:44:99:1485,132,0:127
1	7887493	.	T	C	43700.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=534;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs228696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=228696" target="_blank">rs228696</a>;ExAC.Info.AC=122751;ExAC.Info.AN=126704;ExAC.Info.AF=0.969;ExAC.Info.AC_Het=3789;ExAC.Info.AC_Hom=59481;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2504T>C;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu835Pro/c.2504T>C;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361923;SAVANT_GENE=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;SAVANT_INFO=+/60.5kb/21/6.2kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2480T>C_p.Leu827Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PER3+c.2480T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7887493">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,158:158:99:5671,475,0:127	1|1:1,217:218:99:7585,611,0:127	1|1:0,158:158:99:5641,474,0:127
1	7889941	.	C	T	28639.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=530;MQ=68.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2640908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2640908" target="_blank">rs2640908</a>;ExAC.Info.AC=28625;ExAC.Info.AN=126702;ExAC.Info.AF=0.226;ExAC.Info.AC_Het=20746;ExAC.Info.AC_Hom=3936;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2934C>T;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2934C>T;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr978Thr/c.2934C>T;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361923;SAVANT_GENE=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;SAVANT_INFO=+/60.5kb/21/6.2kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2907C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PER3+c.2907C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7889941">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,176:176:99:6230,529,0:127	1|0:96,116:212:99:3585,0,2788:127	1|0:80,62:142:99:1815,0,2253:127
1	7890064	.	A	G	8588.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=406;MQ=67.61;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs12023156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12023156" target="_blank">rs12023156</a>;ExAC.Info.AC=11651;ExAC.Info.AN=87404;ExAC.Info.AF=0.133;ExAC.Info.AC_Het=7334;ExAC.Info.AC_Hom=2149;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3057A>G;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3057A>G;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr1019Thr/c.3057A>G;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361923;SAVANT_GENE=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;SAVANT_INFO=+/60.5kb/21/6.2kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.3030A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PER3+c.3030A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7890064">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,331,4244:127	0|1:68,145:213:99:4313,0,2132:127	0|0:83,0:83:99:0,250,3339:127
1	7890264	.	A	G	16984.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=275;MQ=69.83;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1773135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1773135" target="_blank">rs1773135</a>;ExAC.Info.AC=85991;ExAC.Info.AN=126558;ExAC.Info.AF=0.679;ExAC.Info.AC_Het=25600;ExAC.Info.AC_Hom=28688;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3214+43A>G;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3215A>G;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3215A>G;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377532;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361923;SAVANT_GENE=PER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PER3" target="_blank">PER3</a>;SAVANT_INFO=+/60.5kb/21/6.2kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.3187+43A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PER3+c.3187+43A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7890264">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3264,270,0:127	1|0:60,53:113:99:1609,0,1775:127	1|1:0,72:72:99:2611,219,0:127
1	7906476	.	G	T	25919.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs172932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=172932" target="_blank">rs172932</a>;ExAC.Info.AC=18815;ExAC.Info.AN=19474;ExAC.Info.AF=0.966;ExAC.Info.AC_Het=461;ExAC.Info.AC_Hom=7982;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.412+276C>A;snpeff.Amino_Acid_length=139;snpeff.Gene_Name=UTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377516;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=UTS2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7906476">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:3701,328,0:127	1|1:0,127:127:99:4563,382,0:127	1|1:0,73:73:99:2624,219,0:127
1	7907805	.	C	CT	5823.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs112820691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112820691" target="_blank">rs112820691</a>;ExAC.Info.AC=9048;ExAC.Info.AN=126692;ExAC.Info.AF=0.071;ExAC.Info.AC_Het=8267;ExAC.Info.AC_Hom=389;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.337+59_337+58insA;snpeff.Amino_Acid_length=139;snpeff.Gene_Name=UTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377516;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=UTS2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7907805">View</a>	GT:AD:DP:GQ:PL:TP	0|0:116,0:116:99:0,349,4323:127	0|1:64,91:155:99:2935,0,1931:127	0|0:81,0:81:99:0,244,3035:127
1	7907971	.	C	A	2304.63	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs707473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=707473" target="_blank">rs707473</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.259-29G>T;snpeff.Amino_Acid_length=139;snpeff.Gene_Name=UTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377516;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054668;SAVANT_GENE=UTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;SAVANT_INFO=-/5.7kb/5/0.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.304-29G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UTS2+c.304-29G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7907971">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,20:23:14:484,0,14:14	0/1:37,14:51:99:229,0,1327:14	0/1:18,7:25:99:111,0,676:14
1	7913029	.	A	G	3432.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=400;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34305100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34305100" target="_blank">rs34305100</a>;ExAC.Info.AC=17293;ExAC.Info.AN=126700;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=14045;ExAC.Info.AC_Hom=1598;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile12Thr/c.35T>C;snpeff.Amino_Acid_length=139;snpeff.Gene_Name=UTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377516;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054668;SAVANT_GENE=UTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;SAVANT_INFO=-/5.7kb/5/0.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.126-46T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UTS2+c.126-46T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7913029">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,324,3477:127	0|0:148,0:148:99:0,444,4563:127	0|1:85,59:144:99:1735,0,2289:127
1	7913430	.	G	A	32803.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=494;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs228648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=228648" target="_blank">rs228648</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes|_type_2|_association_with;hgmd_2014.2.OMIM_ID=604097;hgmd_2014.2.PubMed=18067077;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=18067077" target="_blank">18067077</a>;ExAC.Info.AC=66081;ExAC.Info.AN=126704;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=30019;ExAC.Info.AC_Hom=18024;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=367;snpeff.Amino_Acid_Change=c.-179C>T;snpeff.Amino_Acid_length=139;snpeff.Gene_Name=UTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377516;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=139;snpeff.Gene_Name=UTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377516;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054668;SAVANT_GENE=UTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;SAVANT_INFO=-/5.7kb/5/0.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.62C>T_p.Thr21Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UTS2+c.62C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7913430">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,162:162:99:5415,486,0:127	1|1:1,172:173:99:5989,484,0:127	1|0:74,85:159:99:2289,0,1870:127
1	7913445	.	C	T	4020.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=477;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13306061;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13306061" target="_blank">rs13306061</a>;ExAC.Info.AC=17393;ExAC.Info.AN=126704;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=14173;ExAC.Info.AC_Hom=1609;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=382;snpeff.Amino_Acid_Change=c.-194G>A;snpeff.Amino_Acid_length=139;snpeff.Gene_Name=UTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377516;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054668;SAVANT_GENE=UTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTS2" target="_blank">UTS2</a>;SAVANT_INFO=-/5.7kb/5/0.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.47G>A_p.Arg16Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UTS2+c.47G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7913445">View</a>	GT:AD:DP:GQ:PL:TP	0|0:158,0:158:99:0,475,5269:127	0|0:169,1:170:99:0,470,5921:127	0|1:77,72:149:99:2029,0,2134:127
1	7980708	.	C	CA	3242.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=186;snpeff.Amino_Acid_Change=c.*186_*187insT;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=TNFRSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF9" target="_blank">TNFRSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377507;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000377507;SAVANT_GENE=TNFRSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF9" target="_blank">TNFRSF9</a>;SAVANT_INFO=-/21.0kb/8/1.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*186dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF9+c.*186dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7980708">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,37:54:99:666,0,191:127	0/1:31,23:54:99:362,0,552:127	0/1:27,24:51:99:458,0,415:127
1	7980725	.	T	G	198.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=170;snpeff.Amino_Acid_Change=c.*170A>C;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=TNFRSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF9" target="_blank">TNFRSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377507;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377507;SAVANT_GENE=TNFRSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF9" target="_blank">TNFRSF9</a>;SAVANT_INFO=-/21.0kb/8/1.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*170A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF9+c.*170A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:7980725">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,17:99:57:57,0,2316:56	0|0:87,13:100:99:0,119,2612:56	1|0:80,16:96:40:40,0,2502:56
1	8025275	.	C	T	688.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Parkinson_disease_7|_autosomal_recessive_early-onset|_606324_(3);dbSNP139.ID=rs7517357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7517357" target="_blank">rs7517357</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.91-109C>T;snpeff.Amino_Acid_length=189;snpeff.Gene_Name=PARK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARK7" target="_blank">PARK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377491;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000493678;SAVANT_GENE=PARK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARK7" target="_blank">PARK7</a>;SAVANT_INFO=+/23.8kb/7/1.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.91-109C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARK7+c.91-109C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8025275">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1573:125	0|0:55,0:55:99:0,165,2108:125	0|1:31,13:44:99:363,0,1065:125
1	8029494	.	T	G	1340.76	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Parkinson_disease_7|_autosomal_recessive_early-onset|_606324_(3);dbSNP139.ID=rs2641116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2641116" target="_blank">rs2641116</a>;ExAC.Info.AC=30479;ExAC.Info.AN=126186;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=19062;ExAC.Info.AC_Hom=5175;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.252+30T>G;snpeff.Amino_Acid_length=189;snpeff.Gene_Name=PARK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARK7" target="_blank">PARK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377491;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000493678;SAVANT_GENE=PARK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARK7" target="_blank">PARK7</a>;SAVANT_INFO=+/23.8kb/7/1.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.252+30T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARK7+c.252+30T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8029494">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,182,1803:127	0|0:74,0:74:99:0,222,2366:127	0|1:26,24:50:99:689,0,689:127
1	8029509	.	G	A	1189.71	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Parkinson_disease_7|_autosomal_recessive_early-onset|_606324_(3);dbSNP139.ID=rs2640906;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2640906" target="_blank">rs2640906</a>;ExAC.Info.AC=30288;ExAC.Info.AN=126164;ExAC.Info.AF=0.240;ExAC.Info.AC_Het=17768;ExAC.Info.AC_Hom=4148;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.252+45G>A;snpeff.Amino_Acid_length=189;snpeff.Gene_Name=PARK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARK7" target="_blank">PARK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377491;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000493678;SAVANT_GENE=PARK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARK7" target="_blank">PARK7</a>;SAVANT_INFO=+/23.8kb/7/1.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.252+45G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARK7+c.252+45G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8029509">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,142,2441:127	0|0:63,0:63:99:0,193,3495:127	0|1:25,19:44:99:618,0,1188:127
1	8029510	.	G	A	1247.71	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Parkinson_disease_7|_autosomal_recessive_early-onset|_606324_(3);dbSNP139.ID=rs2641117;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2641117" target="_blank">rs2641117</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.252+46G>A;snpeff.Amino_Acid_length=189;snpeff.Gene_Name=PARK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARK7" target="_blank">PARK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377491;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000493678;SAVANT_GENE=PARK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARK7" target="_blank">PARK7</a>;SAVANT_INFO=+/23.8kb/7/1.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.252+46G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARK7+c.252+46G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8029510">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,2242:127	0|0:63,0:63:99:0,189,3268:127	0|1:25,19:44:99:647,0,1088:127
1	8030856	.	G	A	19468.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Parkinson_disease_7|_autosomal_recessive_early-onset|_606324_(3);dbSNP139.ID=rs6703670;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6703670" target="_blank">rs6703670</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.253-98G>A;snpeff.Amino_Acid_length=189;snpeff.Gene_Name=PARK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARK7" target="_blank">PARK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377491;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000493678;SAVANT_GENE=PARK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARK7" target="_blank">PARK7</a>;SAVANT_INFO=+/23.8kb/7/1.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.253-98G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARK7+c.253-98G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8030856">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:4408,409,0:127	1|0:91,97:188:99:2697,0,2624:127	1|0:87,80:167:99:2176,0,2575:127
1	8390384	.	G	C	4671.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs56125713;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56125713" target="_blank">rs56125713</a>;ExAC.Info.AC=19893;ExAC.Info.AN=126686;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=15926;ExAC.Info.AC_Hom=1942;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu311Leu/c.933G>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=SLC45A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A1" target="_blank">SLC45A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377479;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000471889;SAVANT_GENE=SLC45A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A1" target="_blank">SLC45A1</a>;SAVANT_INFO=+/26.3kb/9/2.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.831G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC45A1+c.831G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8390384">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,27:59:99:791,0,886:127	0/1:51,18:69:99:439,0,1505:127	0/1:33,26:59:99:735,0,1049:127
1	8390495	.	A	G	10380.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1058619;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1058619" target="_blank">rs1058619</a>;ExAC.Info.AC=95809;ExAC.Info.AN=125378;ExAC.Info.AF=0.764;ExAC.Info.AC_Het=20901;ExAC.Info.AC_Hom=35096;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro348Pro/c.1044A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=SLC45A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A1" target="_blank">SLC45A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377479;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000471889;SAVANT_GENE=SLC45A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A1" target="_blank">SLC45A1</a>;SAVANT_INFO=+/26.3kb/9/2.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.942A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC45A1+c.942A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8390495">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1573,129,0:116	1|1:1,53:54:99:1679,151,0:116	1|1:0,39:39:99:1370,117,0:116
1	8395441	.	T	C	6601.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2305016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2305016" target="_blank">rs2305016</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1546-56T>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=SLC45A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A1" target="_blank">SLC45A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377479;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000471889;SAVANT_GENE=SLC45A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A1" target="_blank">SLC45A1</a>;SAVANT_INFO=+/26.3kb/9/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1444-56T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC45A1+c.1444-56T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8395441">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,31:62:99:936,0,996:127	1|0:42,42:84:99:1363,0,1388:127	0|0:92,0:92:99:0,276,3451:127
1	8395560	.	G	T	14312.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7535752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7535752" target="_blank">rs7535752</a>;ExAC.Info.AC=21248;ExAC.Info.AN=126672;ExAC.Info.AF=0.168;ExAC.Info.AC_Het=16795;ExAC.Info.AC_Hom=2176;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcg/Tcg;snpeff.Amino_Acid_Change=p.Ala537Ser/c.1609G>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=SLC45A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A1" target="_blank">SLC45A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377479;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000471889;SAVANT_GENE=SLC45A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A1" target="_blank">SLC45A1</a>;SAVANT_INFO=+/26.3kb/9/2.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1507G>T_p.Ala503Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC45A1+c.1507G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8395560">View</a>	GT:AD:DP:GQ:PL:TP	0/1:60,63:123:99:1702,0,1631:127	0/1:66,71:137:99:2049,0,1918:127	0/1:78,79:157:99:2099,0,2311:127
1	8397803	.	C	T	890.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7520373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7520373" target="_blank">rs7520373</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1700-73C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=SLC45A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A1" target="_blank">SLC45A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377479;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000471889;SAVANT_GENE=SLC45A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A1" target="_blank">SLC45A1</a>;SAVANT_INFO=+/26.3kb/9/2.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1598-73C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC45A1+c.1598-73C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8397803">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1712:127	0|0:46,0:46:99:0,138,1805:127	0|1:18,16:34:99:464,0,545:127
1	8418644	.	C	A	11799.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11121172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11121172" target="_blank">rs11121172</a>;cosmic68.Histology_subtype=squamous_cell_carcinoma;ExAC.Info.AC=89844;ExAC.Info.AN=125910;ExAC.Info.AF=0.714;ExAC.Info.AC_Het=23277;ExAC.Info.AC_Hom=30397;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg/Glu-rich__mixed_charge_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3951C>A;snpeff.Amino_Acid_length=1566;snpeff.Gene_Name=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400908;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgT;snpeff.Amino_Acid_Change=p.Arg1317Arg/c.3951G>T;snpeff.Amino_Acid_length=1566;snpeff.Gene_Name=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400908;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337907;SAVANT_GENE=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;SAVANT_INFO=-/465.1kb/24/8.0kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.3951G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RERE+c.3951G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8418644">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,28:57:99:1082,0,1607:127	0|1:34,29:63:99:1111,0,1903:127	1|1:1,68:69:99:3128,154,0:127
1	8418650	.	T	C	11518.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=196;MQ=69.93;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1058766;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1058766" target="_blank">rs1058766</a>;ExAC.Info.AC=89930;ExAC.Info.AN=125862;ExAC.Info.AF=0.715;ExAC.Info.AC_Het=23321;ExAC.Info.AC_Hom=30503;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg/Glu-rich__mixed_charge_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3945T>C;snpeff.Amino_Acid_length=1566;snpeff.Gene_Name=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400908;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgG;snpeff.Amino_Acid_Change=p.Arg1315Arg/c.3945A>G;snpeff.Amino_Acid_length=1566;snpeff.Gene_Name=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400908;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337907;SAVANT_GENE=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;SAVANT_INFO=-/465.1kb/24/8.0kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.3945A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RERE+c.3945A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8418650">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,32:64:99:1218,0,1668:127	0|1:35,28:63:99:1064,0,1949:127	1|1:1,68:69:99:2964,142,0:127
1	8421092	.	C	T	426.72	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2784735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2784735" target="_blank">rs2784735</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=12854;ExAC.Info.AN=51386;ExAC.Info.AF=0.250;ExAC.Info.AC_Het=614;ExAC.Info.AC_Hom=366;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2475C>T;snpeff.Amino_Acid_length=1566;snpeff.Gene_Name=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400908;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro825Pro/c.2475G>A;snpeff.Amino_Acid_length=1566;snpeff.Gene_Name=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400908;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337907;SAVANT_GENE=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;SAVANT_INFO=-/465.1kb/24/8.0kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2475G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RERE+c.2475G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8421092">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1022:74	0|0:25,0:25:75:0,75,772:74	0|1:14,8:22:99:236,0,392:74
1	8421203	.	T	C	4918.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs13596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13596" target="_blank">rs13596</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=56168;ExAC.Info.AN=88868;ExAC.Info.AF=0.632;ExAC.Info.AC_Het=2610;ExAC.Info.AC_Hom=3348;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2364T>C;snpeff.Amino_Acid_length=1566;snpeff.Gene_Name=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400908;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro788Pro/c.2364A>G;snpeff.Amino_Acid_length=1566;snpeff.Gene_Name=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400908;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337907;SAVANT_GENE=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;SAVANT_INFO=-/465.1kb/24/8.0kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2364A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RERE+c.2364A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8421203">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,13:32:99:356,0,504:101	0|1:17,23:40:99:591,0,451:101	1|1:0,34:34:99:1143,102,0:101
1	8422676	.	T	C	6013.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2252865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2252865" target="_blank">rs2252865</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1902+67A>G;snpeff.Amino_Acid_length=1566;snpeff.Gene_Name=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400908;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337907;SAVANT_GENE=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;SAVANT_INFO=-/465.1kb/24/8.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1902+67A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RERE+c.1902+67A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8422676">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,12:29:99:317,0,468:127	0|1:39,21:60:99:578,0,1130:127	1|1:0,43:43:99:1546,129,0:127
1	8425900	.	T	C	5250.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3753275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753275" target="_blank">rs3753275</a>;ExAC.Info.AC=25380;ExAC.Info.AN=126702;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=19288;ExAC.Info.AC_Hom=3036;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr473Thr/c.1419A>G;snpeff.Amino_Acid_length=1566;snpeff.Gene_Name=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400908;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337907;SAVANT_GENE=RERE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RERE" target="_blank">RERE</a>;SAVANT_INFO=-/465.1kb/24/8.0kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1419A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RERE+c.1419A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8425900">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,19:39:99:523,0,513:127	0/1:27,27:54:99:781,0,717:127	0/1:17,28:45:99:784,0,422:127
1	8925331	.	G	A	3533.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Enolase_deficiency_(1);dbSNP139.ID=rs72641527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72641527" target="_blank">rs72641527</a>;ExAC.Info.AC=5;ExAC.Info.AN=126702;ExAC.Info.AF=3.946e-05;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.865+13C>T;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=ENO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO1" target="_blank">ENO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234590;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.866G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=ENO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO1" target="_blank">ENO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234590;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.866G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=ENO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO1" target="_blank">ENO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234590;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234590;SAVANT_GENE=ENO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO1" target="_blank">ENO1</a>;SAVANT_INFO=-/17.7kb/12/1.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.865+13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENO1+c.865+13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:8925331">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,24:47:99:722,0,576:127	1|0:39,27:66:99:693,0,1034:127	0|0:51,0:51:99:0,153,1668:127
1	9009406	.	C	T	6687.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2274327;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274327" target="_blank">rs2274327</a>;ExAC.Info.AC=44930;ExAC.Info.AN=126696;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=27596;ExAC.Info.AC_Hom=8580;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.164C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.164C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.164C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.164C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.164C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.164C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr55Met/c.164C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.164C>T_p.Thr55Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.164C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9009406">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,53:106:99:1507,0,1591:127	1|0:69,43:112:99:1120,0,1963:127	0|0:89,0:89:99:0,268,3192:127
1	9009444	.	A	C	14297.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2274328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274328" target="_blank">rs2274328</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=62163;ExAC.Info.AN=126700;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=31081;ExAC.Info.AC_Hom=15421;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.202A>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.202A>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.202A>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.202A>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.202A>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.202A>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Ctg;snpeff.Amino_Acid_Change=p.Met68Leu/c.202A>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.202A>C_p.Met68Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.202A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9009444">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,43:81:99:1407,0,942:127	1|1:0,89:89:99:3525,268,0:127	0|1:35,38:73:99:1488,0,1001:127
1	9009451	.	G	C	6444.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2274329;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274329" target="_blank">rs2274329</a>;ExAC.Info.AC=11747;ExAC.Info.AN=126704;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=10364;ExAC.Info.AC_Hom=670;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.209G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.209G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.209G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.209G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.209G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.209G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gCc;snpeff.Amino_Acid_Change=p.Gly70Ala/c.209G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.209G>C_p.Gly70Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.209G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9009451">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,1:78:99:0,205,3521:127	0|1:35,51:86:99:1908,0,1303:127	0|1:31,36:67:99:1334,0,1264:127
1	9009470	.	G	C	5480.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2274330;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274330" target="_blank">rs2274330</a>;ExAC.Info.AC=18330;ExAC.Info.AN=126702;ExAC.Info.AF=0.145;ExAC.Info.AC_Het=13943;ExAC.Info.AC_Hom=2145;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggC;snpeff.Amino_Acid_Change=p.Gly76Gly/c.228G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.228G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.228G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9009470">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,1:70:99:0,169,3017:127	0|1:32,37:69:99:1517,0,1190:127	0|1:29,32:61:99:1243,0,1123:127
1	9011537	.	G	A	9770.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=388;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7540307;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7540307" target="_blank">rs7540307</a>;ExAC.Info.AC=37585;ExAC.Info.AN=116838;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=24086;ExAC.Info.AC_Hom=6425;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.259+2036G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.259+2036G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.259+2036G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9011537">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,60:122:99:1728,0,1811:127	1|0:79,69:148:99:2126,0,2384:127	0|0:118,0:118:99:0,354,4032:127
1	9011586	.	T	G	22093.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=450;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3765968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3765968" target="_blank">rs3765968</a>;ExAC.Info.AC=72656;ExAC.Info.AN=117154;ExAC.Info.AF=0.620;ExAC.Info.AC_Het=26319;ExAC.Info.AC_Hom=22589;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.259+2085T>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260T>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260T>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260T>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260T>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260T>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260T>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260T>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.259+2085T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.259+2085T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9011586">View</a>	GT:AD:DP:GQ:PL:TP	0|1:75,69:144:99:1951,0,2128:127	1|1:0,162:162:99:5743,487,0:127	0|1:66,78:144:99:2141,0,1859:127
1	9011627	.	G	A	8516.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3765967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3765967" target="_blank">rs3765967</a>;ExAC.Info.AC=12082;ExAC.Info.AN=117730;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=10546;ExAC.Info.AC_Hom=723;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.259+2126G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.259+2126G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.259+2126G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9011627">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,379,4610:127	0|1:80,79:159:99:2224,0,2245:127	0|1:57,78:135:99:2054,0,1423:127
1	9017204	.	A	G	1260.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2274333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274333" target="_blank">rs2274333</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Colorectal_cancer|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=114780;hgmd_2014.2.PubMed=17000706;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17000706" target="_blank">17000706</a>;ExAC.Info.AC=41116;ExAC.Info.AN=126664;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=26254;ExAC.Info.AC_Hom=7207;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser90Gly/c.268A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.268A>G_p.Ser90Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.268A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9017204">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2249:127	0|0:79,0:79:99:0,237,2574:127	0|1:19,23:42:99:649,0,554:127
1	9030964	.	C	T	2198.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3737665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737665" target="_blank">rs3737665</a>;ExAC.Info.AC=31474;ExAC.Info.AN=126704;ExAC.Info.AF=0.248;ExAC.Info.AC_Het=22213;ExAC.Info.AC_Hom=4631;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn256Asn/c.768C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[glycosylation_site:N-linked__GlcNAc..._];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.768C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.768C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9030964">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,3730:127	0|0:136,0:136:99:0,409,4871:127	0|1:40,41:81:99:1118,0,1235:127
1	9034301	.	T	C	3516.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72641578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72641578" target="_blank">rs72641578</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.845-105T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.845-380T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.845-380T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9034301">View</a>	GT:AD:DP:GQ:PL:TP	0|0:150,0:150:99:0,450,5041:127	0|1:72,62:134:99:1777,0,2057:127	0|0:113,0:113:99:0,340,4144:127
1	9034421	.	G	A	3930.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3765964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3765964" target="_blank">rs3765964</a>;ExAC.Info.AC=36833;ExAC.Info.AN=116114;ExAC.Info.AF=0.317;ExAC.Info.AC_Het=8505;ExAC.Info.AC_Hom=2831;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gAg;snpeff.Amino_Acid_Change=p.Gly287Glu/c.860G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377436;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.845-260G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.845-260G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9034421">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,370,4582:127	0|0:112,0:112:99:0,336,4096:127	0|1:37,66:103:99:1984,0,1078:127
1	9034598	.	A	G	7040.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3765963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3765963" target="_blank">rs3765963</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.845-83A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.845-83A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9034598">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,3575:127	0|1:67,61:128:99:1858,0,1805:127	0|1:51,51:102:99:1682,0,1475:127
1	9034815	.	C	CAGA	19846.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs35753212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35753212" target="_blank">rs35753212</a>;ExAC.Info.AC=70049;ExAC.Info.AN=124270;ExAC.Info.AF=0.564;ExAC.Info.AC_Het=15803;ExAC.Info.AC_Hom=14005;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000377443;SAVANT_GENE=CA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CA6" target="_blank">CA6</a>;SAVANT_INFO=+/29.2kb/8/1.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*55_*57dupAAG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CA6+c.*55_*57dupAAG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9034815">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,59:103:99:2344,0,1767:127	0|1:55,48:103:99:1887,0,2261:127	1|1:0,110:110:99:4940,334,0:127
1	9064838	.	G	A	5619.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72644324;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72644324" target="_blank">rs72644324</a>;ExAC.Info.AC=165;ExAC.Info.AN=126704;ExAC.Info.AF=1.302e-03;ExAC.Info.AC_Het=165;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1293G>A;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400906;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile431Ile/c.1293C>T;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400906;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400906;SAVANT_GENE=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;SAVANT_INFO=-/23.0kb/12/1.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1293C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC2A7+c.1293C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9064838">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,43:81:99:1077,0,1145:127	0|0:90,0:90:99:0,270,3004:127	1|0:43,42:85:99:1091,0,1238:127
1	9070178	.	A	G	1334.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs67090552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67090552" target="_blank">rs67090552</a>;ExAC.Info.AC=5070;ExAC.Info.AN=89138;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=2284;ExAC.Info.AC_Hom=235;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1116+24T>C;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400906;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1117A>G;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400906;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1117A>G;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400906;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400906;SAVANT_GENE=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;SAVANT_INFO=-/23.0kb/12/1.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1116+24T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC2A7+c.1116+24T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9070178">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1870:127	0|0:48,0:48:99:0,144,1722:127	0|1:20,26:46:99:686,0,547:127
1	9074861	.	C	T	1890.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12402973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12402973" target="_blank">rs12402973</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=11555;ExAC.Info.AN=125548;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=8602;ExAC.Info.AC_Hom=526;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782C>T;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400906;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782C>T;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400906;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg261Gln/c.782G>A;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400906;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400906;SAVANT_GENE=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;SAVANT_INFO=-/23.0kb/12/1.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.782G>A_p.Arg261Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC2A7+c.782G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9074861">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1169:106	0|1:24,29:53:99:964,0,682:106	0|0:37,0:37:99:0,111,1280:106
1	9085006	.	G	GGCCCACCTTGT	4478.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs148146441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148146441" target="_blank">rs148146441</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.150+29_150+28insACAAGGTGGGC;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400906;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151_152insGCCCACCTTGT;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400906;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151_152insGCCCACCTTGT;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400906;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000400906;SAVANT_GENE=SLC2A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A7" target="_blank">SLC2A7</a>;SAVANT_INFO=-/23.0kb/12/1.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.150+18_150+28dup11;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC2A7+c.150+18_150+28dup11+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9085006">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,194,3345:127	0|1:44,47:91:99:1633,0,2054:127	0|1:44,23:67:99:631,0,2124:127
1	9162051	.	C	T	22763.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=853;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6697376;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6697376" target="_blank">rs6697376</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2427;snpeff.Amino_Acid_Change=c.*2427G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377411;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377411;SAVANT_GENE=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;SAVANT_INFO=-/28.9kb/4/5.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2427G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR157+c.*2427G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9162051">View</a>	GT:AD:DP:GQ:PL:TP	0/1:151,113:264:99:2987,0,4201:127	0/1:157,142:299:99:4019,0,4284:127	0/1:175,115:290:99:3010,0,5154:127
1	9165685	.	G	A	9240.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72637739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72637739" target="_blank">rs72637739</a>;ExAC.Info.AC=25897;ExAC.Info.AN=126672;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=19653;ExAC.Info.AC_Hom=2891;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377411;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377411;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg218Cys/c.652C>T;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377411;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377411;SAVANT_GENE=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;SAVANT_INFO=-/28.9kb/4/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.652C>T_p.Arg218Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR157+c.652C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9165685">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,50:88:99:1411,0,969:127	1|0:60,72:132:99:1959,0,1631:127	0|0:79,2:81:99:0,194,2747:127
1	9165779	.	A	C	146.84	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=1783;ExAC.Info.AN=122886;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1498;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.598-40T>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377411;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598A>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377411;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598A>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377411;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377411;SAVANT_GENE=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;SAVANT_INFO=-/28.9kb/4/5.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.598-40T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR157+c.598-40T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9165779">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,7:15:61:61,0,243:10	0/1:16,5:21:33:33,0,502:10	0/1:12,4:16:10:10,0,367:10
1	9171238	.	G	T	4195.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12135666;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12135666" target="_blank">rs12135666</a>;ExAC.Info.AC=18210;ExAC.Info.AN=117796;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=6059;ExAC.Info.AC_Hom=743;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.597+97C>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377411;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598G>T;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377411;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598G>T;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377411;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377411;SAVANT_GENE=GPR157;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR157" target="_blank">GPR157</a>;SAVANT_INFO=-/28.9kb/4/5.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.597+97C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR157+c.597+97C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9171238">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,23:50:99:663,0,796:120	1|0:36,40:76:99:1153,0,994:120	0|0:40,0:40:99:0,120,1415:120
1	9304978	.	CCCCAGGCA	C	11653.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1011;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Cortisone_reductase_deficiency_1|_604931_(3);dbSNP139.ID=rs139855605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139855605" target="_blank">rs139855605</a>;ExAC.Info.AC=19448;ExAC.Info.AN=126700;ExAC.Info.AF=0.153;ExAC.Info.AC_Het=16308;ExAC.Info.AC_Hom=1424;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.24-5_24-2delCCCAGGCA;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.24_31delCCCAGGCA;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.24_31delCCCAGGCA;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=disruptive_inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=tggcac/tgc;snpeff.Amino_Acid_Change=p.Trp8_His9del/c.24_31delCCCAGGCA;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.24_31delCCCAGGCA;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;LOF=(H6PD|ENSG00000049239|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000377403;SAVANT_GENE=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;SAVANT_INFO=+/36.5kb/5/9.1kb;SAVANT_LOC=5UTR-Ex2;SAVANT_HGVS=c.-7_1del8;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=H6PD+c.-7_1del8+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9304978">View</a>	GT:AD:DP:GQ:PL:TP	0|0:294,0:294:99:0,880,13176:127	0|0:401,0:401:99:0,1200,17864:127	0|1:164,152:316:99:5850,0,6396:127
1	9305445	.	A	C	15632.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=657;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cortisone_reductase_deficiency_1|_604931_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34603401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34603401" target="_blank">rs34603401</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Obesity|_association_with;hgmd_2014.2.OMIM_ID=138090;hgmd_2014.2.PubMed=22306327;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=22306327" target="_blank">22306327</a>;ExAC.Info.AC=15191;ExAC.Info.AN=126702;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=12894;ExAC.Info.AC_Hom=1138;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gCc;snpeff.Amino_Acid_Change=p.Asp162Ala/c.485A>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377403;SAVANT_GENE=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;SAVANT_INFO=+/36.5kb/5/9.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.452A>C_p.Asp151Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=H6PD+c.452A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9305445">View</a>	GT:AD:DP:GQ:PL:TP	0|1:100,86:186:99:2762,0,2686:127	1|0:121,110:231:99:3510,0,3446:127	0|0:240,0:240:99:0,720,8036:127
1	9307033	.	G	A	8759.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=408;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cortisone_reductase_deficiency_1|_604931_(3);dbSNP139.ID=rs7524046;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7524046" target="_blank">rs7524046</a>;ExAC.Info.AC=28330;ExAC.Info.AN=126704;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=21310;ExAC.Info.AC_Hom=3500;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala223Ala/c.669G>A;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377403;SAVANT_GENE=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;SAVANT_INFO=+/36.5kb/5/9.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.636G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=H6PD+c.636G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9307033">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,55:124:99:1531,0,1869:127	0|0:170,2:172:99:0,467,5789:127	1|0:59,53:112:99:1562,0,1803:127
1	9307138	.	T	C	6650.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cortisone_reductase_deficiency_1|_604931_(3);dbSNP139.ID=rs11121350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11121350" target="_blank">rs11121350</a>;ExAC.Info.AC=30267;ExAC.Info.AN=126702;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=22310;ExAC.Info.AC_Hom=3958;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala258Ala/c.774T>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377403;SAVANT_GENE=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;SAVANT_INFO=+/36.5kb/5/9.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.741T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=H6PD+c.741T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9307138">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,50:99:99:1401,0,1377:127	0|0:144,1:145:99:0,403,4885:127	1|0:48,55:103:99:1533,0,1415:127
1	9323910	.	G	A	14133.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=519;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cortisone_reductase_deficiency_1|_604931_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6688832;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6688832" target="_blank">rs6688832</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Cortisone_reductase_deficiency|_partial;hgmd_2014.2.OMIM_ID=138090;hgmd_2014.2.PubMed=12858176;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12858176" target="_blank">12858176</a>;ExAC.Info.AC=35984;ExAC.Info.AN=126698;ExAC.Info.AF=0.284;ExAC.Info.AC_Het=24664;ExAC.Info.AC_Hom=5618;Clinvar.ClinicalSignificance=Uncertain_significance;Clinvar.RCVaccession=RCV000017511;Clinvar.PhenotypeIDs=MedGen:C1291245|OMIM:604931|Orphanet:ORPHA168588|SNOMED_CT:124138004;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg464Gln/c.1391G>A;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377403;SAVANT_GENE=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;SAVANT_INFO=+/36.5kb/5/9.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1358G>A_p.Arg453Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=H6PD+c.1358G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9323910">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017511" target="_blank">Uncertain_significance</a> 	GT:AD:DP:GQ:PL:TP	1|0:73,95:168:99:2734,0,2000:127	0|0:204,0:204:99:0,613,7015:127	1|0:58,89:147:99:2874,0,1648:127
1	9324213	.	C	T	7926.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cortisone_reductase_deficiency_1|_604931_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17368528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17368528" target="_blank">rs17368528</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Multiple_sclerosis|_reduced_risk|_association_with;hgmd_2014.2.OMIM_ID=138090;hgmd_2014.2.PubMed=19935835;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19935835" target="_blank">19935835</a>;ExAC.Info.AC=14498;ExAC.Info.AN=126644;ExAC.Info.AF=0.114;ExAC.Info.AC_Het=12396;ExAC.Info.AC_Hom=989;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro565Leu/c.1694C>T;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377403;SAVANT_GENE=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;SAVANT_INFO=+/36.5kb/5/9.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1661C>T_p.Pro554Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=H6PD+c.1661C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9324213">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,40:93:99:1173,0,1469:127	1|0:51,53:104:99:1543,0,1485:127	0|0:88,0:88:99:0,264,3139:127
1	9324571	.	T	C	10089.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Cortisone_reductase_deficiency_1|_604931_(3);dbSNP139.ID=rs9434742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9434742" target="_blank">rs9434742</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=52015;ExAC.Info.AN=126506;ExAC.Info.AF=0.411;ExAC.Info.AC_Het=28990;ExAC.Info.AC_Hom=11233;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr684Tyr/c.2052T>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377403;SAVANT_GENE=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;SAVANT_INFO=+/36.5kb/5/9.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2019T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=H6PD+c.2019T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9324571">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,46:92:99:1368,0,1324:127	0/1:58,50:108:99:1384,0,1760:127	0/1:41,59:100:99:1749,0,1138:127
1	9324670	.	A	G	6283.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Cortisone_reductase_deficiency_1|_604931_(3);dbSNP139.ID=rs9434743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9434743" target="_blank">rs9434743</a>;ExAC.Info.AC=51082;ExAC.Info.AN=126364;ExAC.Info.AF=0.404;ExAC.Info.AC_Het=28547;ExAC.Info.AC_Hom=10901;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser717Ser/c.2151A>G;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602477;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377403;SAVANT_GENE=H6PD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H6PD" target="_blank">H6PD</a>;SAVANT_INFO=+/36.5kb/5/9.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2118A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=H6PD+c.2118A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9324670">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,30:63:99:819,0,968:127	0/1:57,34:91:99:904,0,1714:127	0/1:46,35:81:99:1010,0,1395:127
1	9613899	.	A	C	432.31	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=546;ExAC.Info.AN=121802;ExAC.Info.AF=4.483e-03;ExAC.Info.AC_Het=415;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.236+36A>C;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Solcar_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.237A>C;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Solcar_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.237A>C;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Solcar_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.237A>C;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Solcar_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.237A>C;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302692;SAVANT_GENE=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;SAVANT_INFO=+/43.3kb/7/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.236+36A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC25A33+c.236+36A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9613899">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,8:36:37:37,0,957:7	0/1:32,13:45:54:54,0,988:7	0/1:15,4:19:7:7,0,534:7
1	9633387	.	GT	G	49.72	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.416-16delT;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Solcar_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.416delT;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Solcar_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.416delT;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Solcar_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.416delT;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.416delT;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.416delT;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000302692;SAVANT_GENE=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;SAVANT_INFO=+/43.3kb/7/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.416-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC25A33+c.416-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9633387">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,6:53:28:0,28,1107:27	0|0:58,5:63:50:0,50,1382:27	0|1:42,8:50:48:48,0,941:27
1	9642329	.	C	T	6079.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs56026893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56026893" target="_blank">rs56026893</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.764-28C>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Solcar_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.764C>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Solcar_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.764C>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302692;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302692;SAVANT_GENE=SLC25A33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A33" target="_blank">SLC25A33</a>;SAVANT_INFO=+/43.3kb/7/1.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.764-28C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC25A33+c.764-28C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9642329">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,28:53:99:703,0,805:127	0/1:20,39:59:99:1157,0,571:127	0/1:32,30:62:99:826,0,865:127
1	9658465	.	T	G	6562.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9430181;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9430181" target="_blank">rs9430181</a>;ExAC.Info.AC=102287;ExAC.Info.AN=126350;ExAC.Info.AF=0.810;ExAC.Info.AC_Het=18284;ExAC.Info.AC_Hom=40293;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.430-42T>G;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=TMEM201;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM201" target="_blank">TMEM201</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340381;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340381;SAVANT_GENE=TMEM201;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM201" target="_blank">TMEM201</a>;SAVANT_INFO=+/25.9kb/11/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.430-42T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM201+c.430-42T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9658465">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,21:53:99:637,0,970:127	0/1:30,36:66:99:1163,0,855:127	0/1:21,28:49:99:939,0,558:127
1	9776686	.	G	T	802.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3);dbSNP139.ID=rs200867219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200867219" target="_blank">rs200867219</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.780+9G>T;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PIK3CD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3CD" target="_blank">PIK3CD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361110;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377346;SAVANT_GENE=PIK3CD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3CD" target="_blank">PIK3CD</a>;SAVANT_INFO=+/77.2kb/24/5.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.780+9G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3CD+c.780+9G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9776686">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1316:106	0|0:37,0:37:99:0,111,1253:106	0|1:16,14:30:99:420,0,546:106
1	9780836	.	T	G	1094.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201274224;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201274224" target="_blank">rs201274224</a>;ExAC.Info.AC=8526;ExAC.Info.AN=125590;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=7727;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Gct;snpeff.Amino_Acid_Change=p.Ser544Ala/c.1630T>G;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PIK3CD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3CD" target="_blank">PIK3CD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361110;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377346;SAVANT_GENE=PIK3CD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3CD" target="_blank">PIK3CD</a>;SAVANT_INFO=+/77.2kb/24/5.2kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1558T>G_p.Ser520Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3CD+c.1558T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9780836">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,23:67:99:111,0,1221:110	0/1:65,43:108:99:250,0,1634:110	0/1:44,26:70:99:153,0,1242:110
1	9782556	.	C	T	27855.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3);dbSNP139.ID=rs11589267;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11589267" target="_blank">rs11589267</a>;ExAC.Info.AC=42403;ExAC.Info.AN=126606;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=23912;ExAC.Info.AC_Hom=9017;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2420-30C>T;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PIK3CD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3CD" target="_blank">PIK3CD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361110;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377346;SAVANT_GENE=PIK3CD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3CD" target="_blank">PIK3CD</a>;SAVANT_INFO=+/77.2kb/24/5.2kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2348-30C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3CD+c.2348-30C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9782556">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3225,300,0:127	1|1:0,164:164:99:5495,492,0:127	1|0:74,65:139:99:1657,0,2162:127
1	9784423	.	C	T	7046.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=821;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3);dbSNP139.ID=rs11121484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11121484" target="_blank">rs11121484</a>;ExAC.Info.AC=21635;ExAC.Info.AN=126704;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=15200;ExAC.Info.AC_Hom=3211;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr960Tyr/c.2880C>T;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PIK3CD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3CD" target="_blank">PIK3CD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361110;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377346;SAVANT_GENE=PIK3CD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3CD" target="_blank">PIK3CD</a>;SAVANT_INFO=+/77.2kb/24/5.2kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.2808C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3CD+c.2808C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9784423">View</a>	GT:AD:DP:GQ:PL:TP	0|0:272,0:272:99:0,817,9182:127	0|0:286,0:286:99:0,859,9840:127	0|1:134,129:263:99:3542,0,3684:127
1	9790660	.	T	C	1240.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P|P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72633874;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72633874" target="_blank">rs72633874</a>;ExAC.Info.AC=1;ExAC.Info.AN=126704;ExAC.Info.AF=7.892e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__highly_acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2852T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__highly_acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2852T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2852T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2852T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu951Gly/c.2852A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377298;SAVANT_GENE=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;SAVANT_INFO=-/95.5kb/19/5.2kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2852A>G_p.Glu951Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLSTN1+c.2852A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9790660">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,1:58:99:0,138,1938:127	0|0:70,0:70:99:0,210,2367:127	0|1:29,21:50:99:639,0,904:127
1	9796038	.	C	T	16657.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=932;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72633875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72633875" target="_blank">rs72633875</a>;ExAC.Info.AC=3;ExAC.Info.AN=126704;ExAC.Info.AF=2.368e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly547Arg/c.1639G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377298;SAVANT_GENE=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;SAVANT_INFO=-/95.5kb/19/5.2kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1639G>A_p.Gly547Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLSTN1+c.1639G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9796038">View</a>	GT:AD:DP:GQ:PL:TP	1|0:140,145:285:99:3789,0,3687:127	0|0:349,0:349:99:0,1048,11588:127	1|0:168,130:298:99:3562,0,4535:127
1	9816620	.	T	C	35789.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3)|Activated_PI3K-delta_immunodeficiency_syndrome|_615513_(3);dbSNP139.ID=rs6680090;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6680090" target="_blank">rs6680090</a>;ExAC.Info.AC=122548;ExAC.Info.AN=126694;ExAC.Info.AF=0.967;ExAC.Info.AC_Het=3934;ExAC.Info.AC_Hom=58998;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.215-52A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.215T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377298;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377298;SAVANT_GENE=CLSTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSTN1" target="_blank">CLSTN1</a>;SAVANT_INFO=-/95.5kb/19/5.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.215-52A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLSTN1+c.215-52A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:9816620">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:4633,409,0:127	1|1:0,177:177:99:5949,532,0:127	1|1:0,136:136:99:4623,408,0:127
1	10027540	.	G	A	9582.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Leber_congenital_amaurosis_9|_608553_(3);dbSNP139.ID=rs2890358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2890358" target="_blank">rs2890358</a>;ExAC.Info.AC=1271;ExAC.Info.AN=2388;ExAC.Info.AF=0.532;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=5;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-56-4536G>A;snpeff.Amino_Acid_length=279;snpeff.Gene_Name=NMNAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NMNAT1" target="_blank">NMNAT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377205;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377205;SAVANT_GENE=NMNAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NMNAT1" target="_blank">NMNAT1</a>;SAVANT_INFO=+/42.1kb/5/3.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4592G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NMNAT1+c.-4592G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10027540">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1206,105,0:104	1|1:0,47:47:99:1680,141,0:104	1|1:0,35:35:99:1277,105,0:104
1	10068175	.	G	A	6400.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11578833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11578833" target="_blank">rs11578833</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.253-56G>A;snpeff.Amino_Acid_length=134;snpeff.Gene_Name=RBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBP7" target="_blank">RBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294435;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.253G>A;snpeff.Amino_Acid_length=134;snpeff.Gene_Name=RBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBP7" target="_blank">RBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294435;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.253G>A;snpeff.Amino_Acid_length=134;snpeff.Gene_Name=RBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBP7" target="_blank">RBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294435;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294435;SAVANT_GENE=RBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBP7" target="_blank">RBP7</a>;SAVANT_INFO=+/18.8kb/4/0.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.253-56G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBP7+c.253-56G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10068175">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,22:40:99:616,0,530:114	1|1:0,63:63:99:2149,189,0:114	0|0:38,0:38:99:0,114,1310:114
1	10189532	.	A	G	10807.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=561;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72638958;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72638958" target="_blank">rs72638958</a>;ExAC.Info.AC=1;ExAC.Info.AN=126696;ExAC.Info.AF=7.893e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1695+26A>G;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=UBE4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE4B" target="_blank">UBE4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343090;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343090;SAVANT_GENE=UBE4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE4B" target="_blank">UBE4B</a>;SAVANT_INFO=+/147.6kb/28/5.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1695+26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBE4B+c.1695+26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10189532">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,82:164:99:2374,0,2114:127	0|0:230,0:230:99:0,691,7690:127	1|0:88,79:167:99:2283,0,2569:127
1	10190884	.	A	T	32948.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=533;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2295294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295294" target="_blank">rs2295294</a>;ExAC.Info.AC=52668;ExAC.Info.AN=126692;ExAC.Info.AF=0.416;ExAC.Info.AC_Het=29824;ExAC.Info.AC_Hom=11372;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1911+13A>T;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=UBE4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE4B" target="_blank">UBE4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343090;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343090;SAVANT_GENE=UBE4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE4B" target="_blank">UBE4B</a>;SAVANT_INFO=+/147.6kb/28/5.3kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1911+13A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBE4B+c.1911+13A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10190884">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,163:163:99:5198,490,0:127	1|1:0,183:183:99:6129,550,0:127	1|0:80,107:187:99:2887,0,2200:127
1	10318652	.	C	G	15638.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=818;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs12402052;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12402052" target="_blank">rs12402052</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=34143;ExAC.Info.AN=126704;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=24328;ExAC.Info.AC_Hom=4908;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcG;snpeff.Amino_Acid_Change=p.Ala95Ala/c.285C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.285C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.285C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10318652">View</a>	GT:AD:DP:GQ:PL:TP	1|0:134,103:237:99:2809,0,3979:127	0|0:327,0:327:99:0,982,11419:127	1|0:127,127:254:99:3642,0,3939:127
1	10322054	.	G	A	18136.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=932;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs4846209;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4846209" target="_blank">rs4846209</a>;ExAC.Info.AC=42792;ExAC.Info.AN=126690;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=27836;ExAC.Info.AC_Hom=7142;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.429+26G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.429+26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.429+26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10322054">View</a>	GT:AD:DP:GQ:PL:TP	1|0:143,152:295:99:4040,0,3822:127	0|0:350,0:350:99:0,1051,11743:127	1|0:141,146:287:99:4145,0,3845:127
1	10327407	.	A	T	9375.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=426;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs12141246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12141246" target="_blank">rs12141246</a>;ExAC.Info.AC=44112;ExAC.Info.AN=126694;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=28204;ExAC.Info.AC_Hom=7717;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.430-31A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.430-31A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.430-31A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10327407">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,67:126:99:2046,0,1696:127	0|0:152,1:153:99:0,452,5489:127	1|0:66,81:147:99:2390,0,1990:127
1	10328338	.	C	T	19321.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs1339458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1339458" target="_blank">rs1339458</a>;ExAC.Info.AC=34750;ExAC.Info.AN=126686;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=24737;ExAC.Info.AC_Hom=4767;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.720+17C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.720+17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.720+17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10328338">View</a>	GT:AD:DP:GQ:PL:TP	1|0:177,184:361:99:4945,0,5008:127	0|0:446,0:446:99:0,1339,15799:127	1|0:193,172:365:99:4563,0,5507:127
1	10334924	.	C	T	1054.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs17396973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17396973" target="_blank">rs17396973</a>;ExAC.Info.AC=7480;ExAC.Info.AN=18300;ExAC.Info.AF=0.409;ExAC.Info.AC_Het=2271;ExAC.Info.AC_Hom=1123;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.883-562C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_KBP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_KBP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_KBP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_KBP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_KBP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.865-562C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.865-562C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10334924">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,13:25:99:352,0,351:110	0|0:37,0:37:99:0,111,1419:110	1|0:17,10:27:99:235,0,519:110
1	10339209	.	CAT	C	11542.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=399;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs35347635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35347635" target="_blank">rs35347635</a>;ExAC.Info.AC=5238;ExAC.Info.AN=22602;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=3706;ExAC.Info.AC_Hom=629;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1222+14_1222+15delAT;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1162+1026_1162+1027delAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.1162+1026_1162+1027delAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10339209">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,62:120:99:2421,0,2153:127	0|0:160,0:160:99:0,481,7054:127	1|0:68,51:119:99:1865,0,2692:127
1	10342629	.	G	A	10324.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=489;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs3748576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748576" target="_blank">rs3748576</a>;ExAC.Info.AC=81430;ExAC.Info.AN=126698;ExAC.Info.AF=0.643;ExAC.Info.AC_Het=27717;ExAC.Info.AC_Hom=26703;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1434+38G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1435G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1435G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1296+38G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.1296+38G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10342629">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,85:167:99:2253,0,2383:127	0|0:166,0:166:99:0,499,6054:127	1|0:67,89:156:99:2464,0,1965:127
1	10355834	.	C	T	6728.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs3753037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753037" target="_blank">rs3753037</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=35266;ExAC.Info.AN=126696;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=25125;ExAC.Info.AC_Hom=5042;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1777+10C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1778C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1778C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FHA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1778C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FHA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1778C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FHA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1778C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1639+10C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.1639+10C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10355834">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,37:95:99:918,0,1804:127	0|0:122,0:122:99:0,366,4265:127	1|0:50,62:112:99:1822,0,1384:127
1	10357206	.	AT	A	3511.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs199617049;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199617049" target="_blank">rs199617049</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2043-25delT;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2043delT;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2043delT;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2043delT;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2043delT;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1905-9delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.1905-9delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10357206">View</a>	GT:AD:DP:GQ:PL:TP	0/1:40,43:83:99:585,0,601:127	0/1:79,44:123:99:487,0,1397:127	0/1:55,39:94:99:500,0,928:127
1	10384176	.	C	CTTGAAA	16717.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=587;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs3831405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3831405" target="_blank">rs3831405</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2537+57_2537+58insTTGAAA;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2538_2539insTTGAAA;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2538_2539insTTGAAA;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2399+57_2399+58insTGAAAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.2399+57_2399+58insTGAAAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10384176">View</a>	GT:AD:DP:GQ:PL:TP	1|0:97,77:174:99:3053,0,3807:127	0|0:233,0:233:99:0,702,10460:127	1|0:88,92:180:99:3857,0,3369:127
1	10394536	.	C	G	11156.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=511;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs2276100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2276100" target="_blank">rs2276100</a>;ExAC.Info.AC=40881;ExAC.Info.AN=126704;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=27415;ExAC.Info.AC_Hom=6733;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2925-42C>G;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.2787-42C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.2787-42C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10394536">View</a>	GT:AD:DP:GQ:PL:TP	1|0:77,80:157:99:2234,0,2238:127	0|0:211,0:211:99:0,634,7669:127	1|0:68,75:143:99:2465,0,1872:127
1	10420918	.	G	A	8200.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs3748578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748578" target="_blank">rs3748578</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4056-69G>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In36/37;SAVANT_HGVS=c.3918-69G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.3918-69G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10420918">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,51:103:99:1535,0,1539:127	0|0:121,0:121:99:0,364,4442:127	1|0:70,66:136:99:1847,0,2208:127
1	10420937	.	C	T	9776.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=428;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs3748579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748579" target="_blank">rs3748579</a>;ExAC.Info.AC=40793;ExAC.Info.AN=126698;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=27328;ExAC.Info.AC_Hom=6570;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4056-50C>T;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In36/37;SAVANT_HGVS=c.3918-50C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.3918-50C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10420937">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,61:130:99:1779,0,1930:127	0|0:137,0:137:99:0,412,4728:127	1|0:81,80:161:99:2187,0,2437:127
1	10425117	.	AT	A	5337.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs34161257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34161257" target="_blank">rs34161257</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4367-40delT;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In39/40;SAVANT_HGVS=c.4229-33delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.4229-33delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10425117">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,49:93:99:1163,0,1060:127	0|0:103,0:103:99:0,310,3129:127	1|0:52,57:109:99:1279,0,1258:127
1	10431158	.	T	C	12395.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=508;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs17411502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17411502" target="_blank">rs17411502</a>;ExAC.Info.AC=35169;ExAC.Info.AN=126704;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=25003;ExAC.Info.AC_Hom=5065;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4825-41T>C;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=In42/43;SAVANT_HGVS=c.4687-41T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.4687-41T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10431158">View</a>	GT:AD:DP:GQ:PL:TP	1|0:86,92:178:99:2710,0,2336:127	0|0:188,1:189:99:0,527,6362:127	1|0:62,79:141:99:2411,0,1633:127
1	10435324	.	C	A	13783.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=696;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A1|_118210_(3)|_Pheochromocytoma|_171300_(3)|_{Neuroblastoma|_susceptibility_to|_1}|_256700_(3);dbSNP139.ID=rs11121552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11121552" target="_blank">rs11121552</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=34497;ExAC.Info.AN=126704;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=24497;ExAC.Info.AC_Hom=4997;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5301C>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5301C>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acA;snpeff.Amino_Acid_Change=p.Thr1767Thr/c.5301C>A;snpeff.Amino_Acid_length=1823;snpeff.Gene_Name=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377081;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263934;SAVANT_GENE=KIF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B" target="_blank">KIF1B</a>;SAVANT_INFO=+/167.1kb/47/6.8kb;SAVANT_LOC=Ex46;SAVANT_HGVS=c.5163C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF1B+c.5163C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10435324">View</a>	GT:AD:DP:GQ:PL:TP	1|0:110,101:211:99:2819,0,3233:127	0|0:244,0:244:99:0,733,8494:127	1|0:135,106:241:99:3260,0,4014:127
1	10468005	.	CA	C	306.76	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.450-122delA;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270776;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450delA;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270776;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450delA;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270776;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000270776;SAVANT_GENE=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;SAVANT_INFO=+/21.1kb/13/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.450-108delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGD+c.450-108delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10468005">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,14:34:99:196,0,378:10	0/1:32,6:38:11:11,0,620:10	0/1:29,6:35:19:19,0,598:10
1	10473196	.	C	T	5474.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=325;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2229687;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229687" target="_blank">rs2229687</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=40967;ExAC.Info.AN=126704;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=27451;ExAC.Info.AC_Hom=6747;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp244Asp/c.732C>T;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270776;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270776;SAVANT_GENE=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;SAVANT_INFO=+/21.1kb/13/1.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.732C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGD+c.732C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10473196">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,40:95:99:998,0,1625:127	0|0:119,0:119:99:0,357,4036:127	1|0:74,37:111:99:907,0,2048:127
1	10479635	.	C	G	15123.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=680;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2298570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298570" target="_blank">rs2298570</a>;ExAC.Info.AC=60200;ExAC.Info.AN=126698;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=30860;ExAC.Info.AC_Hom=14661;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1332+39C>G;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270776;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1333C>G;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270776;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1333C>G;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270776;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270776;SAVANT_GENE=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;SAVANT_INFO=+/21.1kb/13/1.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1332+39C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGD+c.1332+39C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10479635">View</a>	GT:AD:DP:GQ:PL:TP	1|0:103,99:202:99:2809,0,2953:127	0|0:260,0:260:99:0,781,8787:127	1|0:118,100:218:99:3024,0,3308:127
1	10479678	.	G	A	15397.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=728;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1889309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889309" target="_blank">rs1889309</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=35266;ExAC.Info.AN=126704;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=25037;ExAC.Info.AC_Hom=5106;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1333-9G>A;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270776;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1333G>A;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270776;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1333G>A;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270776;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270776;SAVANT_GENE=PGD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGD" target="_blank">PGD</a>;SAVANT_INFO=+/21.1kb/13/1.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1333-9G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGD+c.1333-9G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10479678">View</a>	GT:AD:DP:GQ:PL:TP	1|0:103,107:210:99:3148,0,3006:127	0|0:272,0:272:99:0,817,9309:127	1|0:130,116:246:99:3292,0,3630:127
1	10511544	.	C	T	2696.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs628462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=628462" target="_blank">rs628462</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=46330;ExAC.Info.AN=126660;ExAC.Info.AF=0.366;ExAC.Info.AC_Het=27954;ExAC.Info.AC_Hom=9025;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala129Ala/c.387C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=APITD1-CORT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APITD1-CORT" target="_blank">APITD1-CORT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400900;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala129Ala/c.387C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=APITD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APITD1-CORT" target="_blank">APITD1-CORT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602787;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala120Ala/c.360C>T;snpeff.Amino_Acid_length=155;snpeff.Gene_Name=CORT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APITD1-CORT" target="_blank">APITD1-CORT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320498;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377049:ENST00000556104:ENST00000400900;SAVANT_GENE=CORT:APITD1:APITD1-CORT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CORT:APITD1:APITD1-CORT" target="_blank">CORT:APITD1:APITD1-CORT</a>;SAVANT_INFO=+/2.2kb/2/1.1kb:+/22.1kb/5/1.5kb:+/22.1kb/5/1.5kb;SAVANT_LOC=Ex2:Ex5:Ex5;SAVANT_HGVS=c.210C>T_p.=:c.387C>T_p.=:c.387C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:SC:SC;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CORT:APITD1:APITD1-CORT+c.210C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10511544">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2488:127	0|1:30,36:66:99:940,0,954:127	0|1:30,17:47:99:428,0,1026:127
1	10511589	.	T	C	8027.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs666103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=666103" target="_blank">rs666103</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=113392;ExAC.Info.AN=126644;ExAC.Info.AF=0.895;ExAC.Info.AC_Het=11208;ExAC.Info.AC_Hom=50349;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser144Ser/c.432T>C;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=APITD1-CORT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APITD1-CORT" target="_blank">APITD1-CORT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400900;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser144Ser/c.432T>C;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=APITD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APITD1-CORT" target="_blank">APITD1-CORT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602787;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser135Ser/c.405T>C;snpeff.Amino_Acid_length=155;snpeff.Gene_Name=CORT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APITD1-CORT" target="_blank">APITD1-CORT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320498;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377049:ENST00000556104:ENST00000400900;SAVANT_GENE=CORT:APITD1:APITD1-CORT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CORT:APITD1:APITD1-CORT" target="_blank">CORT:APITD1:APITD1-CORT</a>;SAVANT_INFO=+/2.2kb/2/1.1kb:+/22.1kb/5/1.5kb:+/22.1kb/5/1.5kb;SAVANT_LOC=Ex2:Ex5:Ex5;SAVANT_HGVS=c.255T>C_p.=:c.432T>C_p.=:c.432T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:SC:SC;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CORT:APITD1:APITD1-CORT+c.255T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10511589">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1356,114,0:86	1|1:0,37:37:99:1327,111,0:86	1|1:0,29:29:87:1050,87,0:86
1	10534915	.	A	G	6374.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72640366;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72640366" target="_blank">rs72640366</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PEX14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX14" target="_blank">PEX14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX14" target="_blank">PEX14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10534915">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,36:75:99:1270,0,968:127	1|0:44,35:79:99:1027,0,1264:127	0|0:65,0:65:99:0,195,2098:127
1	10555257	.	C	T	5348.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_13A_(Zellweger)|_614887_(3);dbSNP139.ID=rs622623;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=622623" target="_blank">rs622623</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.37-74C>T;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=PEX14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX14" target="_blank">PEX14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356607;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356607;SAVANT_GENE=PEX14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX14" target="_blank">PEX14</a>;SAVANT_INFO=+/155.9kb/9/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.37-74C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX14+c.37-74C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10555257">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2705:127	0|1:57,64:121:99:1737,0,1637:127	0|1:32,32:64:99:957,0,903:127
1	10596341	.	C	T	15164.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=777;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_13A_(Zellweger)|_614887_(3);dbSNP139.ID=rs12375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12375" target="_blank">rs12375</a>;ExAC.Info.AC=35988;ExAC.Info.AN=126704;ExAC.Info.AF=0.284;ExAC.Info.AC_Het=24891;ExAC.Info.AC_Hom=5516;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156C>T;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=PEX14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX14" target="_blank">PEX14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356607;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe52Phe/c.156C>T;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=PEX14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX14" target="_blank">PEX14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356607;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356607;SAVANT_GENE=PEX14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX14" target="_blank">PEX14</a>;SAVANT_INFO=+/155.9kb/9/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.156C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX14+c.156C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10596341">View</a>	GT:AD:DP:GQ:PL:TP	0|1:115,91:206:99:2332,0,3214:127	1|0:156,147:303:99:4201,0,4542:127	0|0:268,0:268:99:0,805,9524:127
1	10596388	.	A	G	36418.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_13A_(Zellweger)|_614887_(3);dbSNP139.ID=rs2480779;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2480779" target="_blank">rs2480779</a>;ExAC.Info.AC=125095;ExAC.Info.AN=126658;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1304;ExAC.Info.AC_Hom=61040;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.169+34A>G;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=PEX14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX14" target="_blank">PEX14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356607;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356607;SAVANT_GENE=PEX14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX14" target="_blank">PEX14</a>;SAVANT_INFO=+/155.9kb/9/2.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.169+34A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX14+c.169+34A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10596388">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,114:114:99:4478,343,0:127	1|1:0,158:158:99:6012,475,0:127	1|1:0,141:141:99:5498,424,0:127
1	10705110	.	G	A	7982.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4845941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845941" target="_blank">rs4845941</a>;ExAC.Info.AC=3716;ExAC.Info.AN=125810;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3507;ExAC.Info.AC_Hom=89;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.838-2195G>A;snpeff.Gene_Name=RP4-734G22.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-734G223" target="_blank">RP4-734G223</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606802;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys1244Cys/c.3732C>T;snpeff.Amino_Acid_length=1759;snpeff.Gene_Name=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-734G223" target="_blank">RP4-734G223</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377022;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377022;SAVANT_GENE=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASZ1" target="_blank">CASZ1</a>;SAVANT_INFO=-/160.0kb/21/7.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.3732C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASZ1+c.3732C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10705110">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,49:90:99:1279,0,1230:127	1|0:53,67:120:99:1787,0,1464:127	0|0:83,0:83:99:0,249,2986:127
1	10708142	.	A	G	3969.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs778228;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=778228" target="_blank">rs778228</a>;ExAC.Info.AC=26454;ExAC.Info.AN=122704;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=12260;ExAC.Info.AC_Hom=2303;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1675A>G;snpeff.Gene_Name=RP4-734G22.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-734G223" target="_blank">RP4-734G223</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606802;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe1071Phe/c.3213T>C;snpeff.Amino_Acid_length=1759;snpeff.Gene_Name=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-734G223" target="_blank">RP4-734G223</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377022;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377022;SAVANT_GENE=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASZ1" target="_blank">CASZ1</a>;SAVANT_INFO=-/160.0kb/21/7.9kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.3213T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASZ1+c.3213T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10708142">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,22:44:99:679,0,576:127	1|0:29,29:58:99:875,0,793:127	0|0:53,0:53:99:0,159,1718:127
1	10710849	.	G	GC	4898.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3215814;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215814" target="_blank">rs3215814</a>;ExAC.Info.AC=31464;ExAC.Info.AN=126666;ExAC.Info.AF=0.248;ExAC.Info.AC_Het=22468;ExAC.Info.AC_Hom=4449;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4383_4384insC;snpeff.Gene_Name=RP4-734G22.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-734G223" target="_blank">RP4-734G223</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606802;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2817-37_2817-38insG;snpeff.Amino_Acid_length=1759;snpeff.Gene_Name=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-734G223" target="_blank">RP4-734G223</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377022;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000377022;SAVANT_GENE=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASZ1" target="_blank">CASZ1</a>;SAVANT_INFO=-/160.0kb/21/7.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2817-38dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASZ1+c.2817-38dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10710849">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,33:66:99:960,0,927:127	1|0:33,34:67:99:997,0,937:127	0|0:48,0:48:99:0,145,1697:127
1	10713765	.	T	C	20866.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs284294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=284294" target="_blank">rs284294</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=67161;ExAC.Info.AN=125810;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=28242;ExAC.Info.AC_Hom=17498;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.7298T>C;snpeff.Gene_Name=RP4-734G22.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-734G223" target="_blank">RP4-734G223</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606802;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser783Ser/c.2349A>G;snpeff.Amino_Acid_length=1759;snpeff.Gene_Name=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-734G223" target="_blank">RP4-734G223</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377022;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377022;SAVANT_GENE=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASZ1" target="_blank">CASZ1</a>;SAVANT_INFO=-/160.0kb/21/7.9kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2349A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASZ1+c.2349A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10713765">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,79:80:99:2519,202,0:127	1|1:0,118:118:99:3938,354,0:127	1|0:44,34:78:99:992,0,1361:127
1	10720601	.	G	A	6923.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs28403334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28403334" target="_blank">rs28403334</a>;ExAC.Info.AC=2453;ExAC.Info.AN=126588;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2183;ExAC.Info.AC_Hom=51;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.506-8C>T;snpeff.Amino_Acid_length=1759;snpeff.Gene_Name=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASZ1" target="_blank">CASZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377022;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506C>T;snpeff.Amino_Acid_length=1759;snpeff.Gene_Name=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASZ1" target="_blank">CASZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377022;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377022;SAVANT_GENE=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASZ1" target="_blank">CASZ1</a>;SAVANT_INFO=-/160.0kb/21/7.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.506-8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASZ1+c.506-8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10720601">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,39:76:99:1145,0,1116:127	1|0:42,48:90:99:1386,0,1251:127	0|0:85,0:85:99:0,256,3159:127
1	10725498	.	G	A	6358.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs284322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=284322" target="_blank">rs284322</a>;ExAC.Info.AC=21454;ExAC.Info.AN=125686;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=17203;ExAC.Info.AC_Hom=1914;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp49Asp/c.147C>T;snpeff.Amino_Acid_length=1759;snpeff.Gene_Name=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASZ1" target="_blank">CASZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377022;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377022;SAVANT_GENE=CASZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASZ1" target="_blank">CASZ1</a>;SAVANT_INFO=-/160.0kb/21/7.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.147C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASZ1+c.147C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:10725498">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,46:87:99:1178,0,1235:127	1|0:31,40:71:99:1218,0,1036:127	0|0:83,0:83:99:0,249,3116:127
1	11008341	.	G	A	2988.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10864483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10864483" target="_blank">rs10864483</a>;ExAC.Info.AC=11419;ExAC.Info.AN=126690;ExAC.Info.AF=0.090;ExAC.Info.AC_Het=9479;ExAC.Info.AC_Hom=955;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys617Cys/c.1851C>T;snpeff.Amino_Acid_length=823;snpeff.Gene_Name=C1orf127;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf127" target="_blank">C1orf127</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377004;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377004;SAVANT_GENE=C1orf127;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf127" target="_blank">C1orf127</a>;SAVANT_INFO=-/35.6kb/13/2.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1851C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf127+c.1851C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11008341">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,424,5190:127	0|0:143,1:144:99:0,395,5096:127	0|1:74,53:127:99:1513,0,2300:127
1	11017026	.	C	A	1398.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12041143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12041143" target="_blank">rs12041143</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.778+54G>T;snpeff.Amino_Acid_length=823;snpeff.Gene_Name=C1orf127;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf127" target="_blank">C1orf127</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377004;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377004;SAVANT_GENE=C1orf127;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf127" target="_blank">C1orf127</a>;SAVANT_INFO=-/35.6kb/13/2.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.778+54G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf127+c.778+54G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11017026">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1374:123	0|0:63,0:63:99:0,189,2228:123	0|1:32,27:59:99:718,0,854:123
1	11024271	.	G	T	5557.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=541;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11121662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11121662" target="_blank">rs11121662</a>;ExAC.Info.AC=7947;ExAC.Info.AN=126704;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=7110;ExAC.Info.AC_Hom=417;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cgg/Agg;snpeff.Amino_Acid_Change=p.Arg144Arg/c.430C>A;snpeff.Amino_Acid_length=823;snpeff.Gene_Name=C1orf127;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf127" target="_blank">C1orf127</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377004;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377004;SAVANT_GENE=C1orf127;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf127" target="_blank">C1orf127</a>;SAVANT_INFO=-/35.6kb/13/2.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.430C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf127+c.430C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11024271">View</a>	GT:AD:DP:GQ:PL:TP	0|0:174,0:174:99:0,522,5644:127	0|0:218,0:218:99:0,654,7054:127	0|1:55,94:149:99:2798,0,1318:127
1	11024353	.	A	G	4880.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6659231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6659231" target="_blank">rs6659231</a>;ExAC.Info.AC=40896;ExAC.Info.AN=124728;ExAC.Info.AF=0.328;ExAC.Info.AC_Het=18116;ExAC.Info.AC_Hom=5517;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.373-25T>C;snpeff.Amino_Acid_length=823;snpeff.Gene_Name=C1orf127;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf127" target="_blank">C1orf127</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377004;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377004;SAVANT_GENE=C1orf127;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf127" target="_blank">C1orf127</a>;SAVANT_INFO=-/35.6kb/13/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.373-25T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf127+c.373-25T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11024353">View</a>	GT:AD:DP:GQ:PL:TP	0|0:152,0:152:99:0,456,4800:127	0|0:177,0:177:99:0,532,6040:127	0|1:63,80:143:99:2459,0,1588:127
1	11024381	.	A	G	3620.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6659326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6659326" target="_blank">rs6659326</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.373-53T>C;snpeff.Amino_Acid_length=823;snpeff.Gene_Name=C1orf127;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf127" target="_blank">C1orf127</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377004;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377004;SAVANT_GENE=C1orf127;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf127" target="_blank">C1orf127</a>;SAVANT_INFO=-/35.6kb/13/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.373-53T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf127+c.373-53T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11024381">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,0:111:99:0,334,3895:127	0|0:132,0:132:99:0,397,4603:127	0|1:38,56:94:99:1829,0,1085:127
1	11086097	.	A	AT	15625.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3215616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215616" target="_blank">rs3215616</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215616" target="_blank">rs3215616</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11086097">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2308,186,0:127	1|1:0,59:59:99:2162,177,0:127	1|1:0,60:60:99:2203,180,0:127
1	11087524	.	G	A	55840.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=709;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=MASP2_deficiency|_613791_(3);dbSNP139.ID=rs1782455;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1782455" target="_blank">rs1782455</a>;ExAC.Info.AC=99677;ExAC.Info.AN=126704;ExAC.Info.AF=0.787;ExAC.Info.AC_Het=18784;ExAC.Info.AC_Hom=40444;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_A_and_B_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1479G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1479G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser493Ser/c.1479C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400897;SAVANT_GENE=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;SAVANT_INFO=-/20.7kb/11/2.4kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1479C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASP2+c.1479C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11087524">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,198:198:99:7151,595,0:127	1|1:0,265:265:99:9454,796,0:127	1|1:0,246:246:99:8652,738,0:127
1	11090916	.	C	A	43677.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=578;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=MASP2_deficiency|_613791_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12711521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12711521" target="_blank">rs12711521</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=HCV_infection|_susceptibility_to;hgmd_2014.2.OMIM_ID=605102;hgmd_2014.2.PubMed=21843573;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21843573" target="_blank">21843573</a>;ExAC.Info.AC=93340;ExAC.Info.AN=126698;ExAC.Info.AF=0.737;ExAC.Info.AC_Het=21119;ExAC.Info.AC_Hom=36025;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1111C>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1111C>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1111C>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1111C>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Tat;snpeff.Amino_Acid_Change=p.Asp371Tyr/c.1111G>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400897;SAVANT_GENE=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;SAVANT_INFO=-/20.7kb/11/2.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1111G>T_p.Asp371Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASP2+c.1111G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11090916">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,188:188:99:6292,565,0:127	1|1:0,230:230:99:7810,691,0:127	1|1:0,160:160:99:5634,481,0:127
1	11094757	.	G	GA	1056.18	PASS	InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=18;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=0/1;OMIM_phenotypes.name=MASP2_deficiency|_613791_(3);dbSNP139.ID=rs70977538;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=70977538" target="_blank">rs70977538</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1087+128_1087+127insT;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1088_1089insA;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1088_1089insA;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1088_1089insA;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1088_1089insA;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1088_1089insA;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000400897;SAVANT_GENE=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;SAVANT_INFO=-/20.7kb/11/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1087+127dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASP2+c.1087+127dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11094757">View</a>	GT:AD:DP:GQ:PL	./1:0,4:5:9:143,27,9	0/1:1,4:5:5:91,0,5	./1:0,4:8:68:246,122,96
1	11094757	.	G	GAA	1056.18	PASS	InheritancePattern=Normal;AC=2;AF=0.667;AN=3;DP=18;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./0;OMIM_phenotypes.name=MASP2_deficiency|_613791_(3);dbSNP139.ID=rs70977538;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=70977538" target="_blank">rs70977538</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1087+128_1087+127insTT;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1088_1089insAA;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1088_1089insAA;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1088_1089insAA;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1088_1089insAA;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1088_1089insAA;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000400897;SAVANT_GENE=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;SAVANT_INFO=-/20.7kb/11/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1087+126_1087+127dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASP2+c.1087+126_1087+127dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11094757">View</a>	GT:AD:DP:GQ:PL	./1:0,1:5:9:143,89,83	./0:1,0:5:5:91,87,105	./1:0,4:8:68:246,86,68
1	11095039	.	C	T	15033.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=MASP2_deficiency|_613791_(3);dbSNP139.ID=rs6695096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6695096" target="_blank">rs6695096</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1009-76G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1009C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1009C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1009C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1009C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1009C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400897;SAVANT_GENE=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;SAVANT_INFO=-/20.7kb/11/2.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1009-76G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASP2+c.1009-76G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11095039">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:1800,176,0:127	1|1:2,88:90:99:2880,250,0:127	1|1:0,69:69:99:2286,207,0:127
1	11104845	.	T	C	7090.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=MASP2_deficiency|_613791_(3);dbSNP139.ID=rs9430347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9430347" target="_blank">rs9430347</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.544+620A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.545T>C;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.545T>C;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400897;SAVANT_GENE=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;SAVANT_INFO=-/20.7kb/11/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.544+620A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASP2+c.544+620A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11104845">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:994,75,0:74	1|1:0,30:30:90:1119,90,0:74	1|0:13,9:22:99:315,0,376:74
1	11106909	.	C	T	1980.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=MASP2_deficiency|_613791_(3);dbSNP139.ID=rs66761147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66761147" target="_blank">rs66761147</a>;ExAC.Info.AC=1916;ExAC.Info.AN=120166;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=855;ExAC.Info.AC_Hom=15;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234+39G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400897;SAVANT_GENE=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;SAVANT_INFO=-/20.7kb/11/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.234+39G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASP2+c.234+39G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11106909">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1930:127	0|1:48,38:86:99:1009,0,1410:127	0|0:44,0:44:99:0,132,1556:127
1	11106935	.	G	A	4026.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=MASP2_deficiency|_613791_(3);dbSNP139.ID=rs72647262;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72647262" target="_blank">rs72647262</a>;ExAC.Info.AC=335;ExAC.Info.AN=122750;ExAC.Info.AF=2.729e-03;ExAC.Info.AC_Het=149;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234+13C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400897;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400897;SAVANT_GENE=MASP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASP2" target="_blank">MASP2</a>;SAVANT_INFO=-/20.7kb/11/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.234+13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASP2+c.234+13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11106935">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,24:71:99:595,0,1338:127	0|0:94,0:94:99:0,282,3099:127	1|0:42,24:66:99:681,0,1198:127
1	11119899	.	T	C	17989.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7545802;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7545802" target="_blank">rs7545802</a>;ExAC.Info.AC=114979;ExAC.Info.AN=114998;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=51996;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.102T>C;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=SRM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRM" target="_blank">SRM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PABS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.102T>C;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=SRM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRM" target="_blank">SRM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376957;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PABS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.102T>C;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=SRM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRM" target="_blank">SRM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PABS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.102T>C;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=SRM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRM" target="_blank">SRM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376957;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PABS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.102T>C;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=SRM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRM" target="_blank">SRM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376957;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PABS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.102T>C;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=SRM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRM" target="_blank">SRM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376957;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PABS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.102T>C;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=SRM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRM" target="_blank">SRM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376957;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser34Ser/c.102A>G;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=SRM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRM" target="_blank">SRM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376957;SAVANT_GENE=SRM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRM" target="_blank">SRM</a>;SAVANT_INFO=-/5.4kb/8/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.102A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRM+c.102A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11119899">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2066,195,0:127	1|1:0,75:75:99:2400,225,0:127	1|1:0,71:71:99:2254,213,0:127
1	11132217	.	G	A	16688.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1130683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1130683" target="_blank">rs1130683</a>;ExAC.Info.AC=89044;ExAC.Info.AN=126704;ExAC.Info.AF=0.703;ExAC.Info.AC_Het=24091;ExAC.Info.AC_Hom=32469;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1745G>A;snpeff.Gene_Name=RP4-635E18.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-635E187" target="_blank">RP4-635E187</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000452378;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg723Arg/c.2169C>T;snpeff.Amino_Acid_length=885;snpeff.Gene_Name=EXOSC10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-635E187" target="_blank">RP4-635E187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376936;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376936;SAVANT_GENE=EXOSC10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOSC10" target="_blank">EXOSC10</a>;SAVANT_INFO=-/33.3kb/25/2.8kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2169C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXOSC10+c.2169C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11132217">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2499,228,0:127	1|1:0,88:88:99:3006,264,0:127	1|0:37,43:80:99:1206,0,1010:127
1	11141187	.	C	G	16846.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2258621;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2258621" target="_blank">rs2258621</a>;ExAC.Info.AC=98731;ExAC.Info.AN=126700;ExAC.Info.AF=0.779;ExAC.Info.AC_Het=20747;ExAC.Info.AC_Hom=38963;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1389C>G;snpeff.Amino_Acid_length=885;snpeff.Gene_Name=EXOSC10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOSC10" target="_blank">EXOSC10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376936;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro463Pro/c.1389G>C;snpeff.Amino_Acid_length=885;snpeff.Gene_Name=EXOSC10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOSC10" target="_blank">EXOSC10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376936;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376936;SAVANT_GENE=EXOSC10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOSC10" target="_blank">EXOSC10</a>;SAVANT_INFO=-/33.3kb/25/2.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1389G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXOSC10+c.1389G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11141187">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2874,261,0:127	1|1:0,86:86:99:2923,258,0:127	1|0:49,36:85:99:968,0,1397:127
1	11181327	.	C	T	2436.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11121691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11121691" target="_blank">rs11121691</a>;ExAC.Info.AC=27616;ExAC.Info.AN=126704;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=20678;ExAC.Info.AC_Hom=3441;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=55;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6909C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu2303Leu/c.6909G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361445;SAVANT_GENE=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;SAVANT_INFO=-/156.0kb/58/8.7kb;SAVANT_LOC=Ex49;SAVANT_HGVS=c.6909G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTOR+c.6909G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11181327">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,361,4212:127	0|0:157,0:157:99:0,472,5626:127	0|1:55,41:96:99:1237,0,1724:127
1	11181475	.	T	C	2320.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs199572003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199572003" target="_blank">rs199572003</a>;ExAC.Info.AC=3;ExAC.Info.AN=126702;ExAC.Info.AF=2.368e-05;ExAC.Info.AC_Het=29;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6811-50A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MLST8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MLST8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=55;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6811T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361445;SAVANT_GENE=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;SAVANT_INFO=-/156.0kb/58/8.7kb;SAVANT_LOC=In48/49;SAVANT_HGVS=c.6811-50A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTOR+c.6811-50A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11181475">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,1:118:99:0,313,4093:127	0|0:130,0:130:99:0,391,4663:127	0|1:52,36:88:99:1179,0,1546:127
1	11190646	.	G	A	2446.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2275527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275527" target="_blank">rs2275527</a>;ExAC.Info.AC=27955;ExAC.Info.AN=126704;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=20866;ExAC.Info.AC_Hom=3535;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5553G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser1851Ser/c.5553C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361445;SAVANT_GENE=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;SAVANT_INFO=-/156.0kb/58/8.7kb;SAVANT_LOC=Ex39;SAVANT_HGVS=c.5553C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTOR+c.5553C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11190646">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2620:127	0|0:86,0:86:99:0,258,2903:127	0|1:30,40:70:99:1242,0,878:127
1	11205058	.	C	T	36262.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=577;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1057079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057079" target="_blank">rs1057079</a>;ExAC.Info.AC=86072;ExAC.Info.AN=126704;ExAC.Info.AF=0.679;ExAC.Info.AC_Het=24118;ExAC.Info.AC_Hom=30972;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.310+115C>T;snpeff.Gene_Name=MTOR-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445982;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4731C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala1577Ala/c.4731G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR-AS1" target="_blank">MTOR-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361445;SAVANT_GENE=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;SAVANT_INFO=-/156.0kb/58/8.7kb;SAVANT_LOC=Ex33;SAVANT_HGVS=c.4731G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTOR+c.4731G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11205058">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,159:159:99:5317,478,0:127	1|1:0,223:223:99:7357,670,0:127	1|0:102,93:195:99:2499,0,2841:127
1	11288758	.	G	A	6972.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1064261;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1064261" target="_blank">rs1064261</a>;ExAC.Info.AC=94169;ExAC.Info.AN=126702;ExAC.Info.AF=0.743;ExAC.Info.AC_Het=22119;ExAC.Info.AC_Hom=35991;snpeff.Effect=sequence_feature[repeat:HEAT_24];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2997G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_24];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2997G>A;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn999Asn/c.2997C>T;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361445;SAVANT_GENE=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;SAVANT_INFO=-/156.0kb/58/8.7kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2997C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTOR+c.2997C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11288758">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:936,87,0:86	1|1:0,37:37:99:1283,111,0:86	1|0:13,16:29:99:490,0,393:86
1	11301714	.	A	G	20517.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=325;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1135172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1135172" target="_blank">rs1135172</a>;ExAC.Info.AC=90959;ExAC.Info.AN=126704;ExAC.Info.AF=0.718;ExAC.Info.AC_Het=23185;ExAC.Info.AC_Hom=33866;snpeff.Effect=sequence_feature[repeat:HEAT_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NBN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NBN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NBN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NBN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NBN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NBN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NBN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NBN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NBN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NBN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NBN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437A>G;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp479Asp/c.1437T>C;snpeff.Amino_Acid_length=2549;snpeff.Gene_Name=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361445;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361445;SAVANT_GENE=MTOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTOR" target="_blank">MTOR</a>;SAVANT_INFO=-/156.0kb/58/8.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1437T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTOR+c.1437T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11301714">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:2975,273,0:127	1|1:0,129:129:99:4276,387,0:127	1|0:63,42:105:99:1153,0,1750:127
1	11561593	.	G	A	8279.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2817580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2817580" target="_blank">rs2817580</a>;ExAC.Info.AC=66498;ExAC.Info.AN=124418;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=24976;ExAC.Info.AC_Hom=18045;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly182Ser/c.544G>A;snpeff.Amino_Acid_length=1392;snpeff.Gene_Name=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389575;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294484;SAVANT_GENE=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;SAVANT_INFO=+/58.3kb/21/5.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.544G>A_p.Gly182Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD2+c.544G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11561593">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,33:63:99:886,0,1006:127	0|0:69,0:69:99:0,207,2610:127	1|1:1,70:71:99:2345,173,0:127
1	11574366	.	C	G	4158.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10864515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10864515" target="_blank">rs10864515</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1317-81C>G;snpeff.Amino_Acid_length=1392;snpeff.Gene_Name=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389575;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294484;SAVANT_GENE=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;SAVANT_INFO=+/58.3kb/21/5.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1317-81C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD2+c.1317-81C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11574366">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,22:37:99:746,0,443:99	1|0:26,27:53:99:821,0,796:99	0|0:33,0:33:99:0,99,1316:99
1	11579470	.	G	A	17439.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2072994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072994" target="_blank">rs2072994</a>;ExAC.Info.AC=68179;ExAC.Info.AN=125410;ExAC.Info.AF=0.544;ExAC.Info.AC_Het=26667;ExAC.Info.AC_Hom=20612;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala650Thr/c.1948G>A;snpeff.Amino_Acid_length=1392;snpeff.Gene_Name=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389575;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294484;SAVANT_GENE=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;SAVANT_INFO=+/58.3kb/21/5.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1948G>A_p.Ala650Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD2+c.1948G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11579470">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2513,225,0:127	1|0:48,51:99:99:1402,0,1321:127	1|1:0,68:68:99:2388,204,0:127
1	11579608	.	G	A	5281.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs34563951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34563951" target="_blank">rs34563951</a>;ExAC.Info.AC=2178;ExAC.Info.AN=125668;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=2077;ExAC.Info.AC_Hom=39;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2038+48G>A;snpeff.Amino_Acid_length=1392;snpeff.Gene_Name=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389575;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294484;SAVANT_GENE=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;SAVANT_INFO=+/58.3kb/21/5.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.2038+48G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD2+c.2038+48G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11579608">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,38:75:99:1045,0,1111:127	0|0:81,0:81:99:0,243,2854:127	1|0:35,33:68:99:914,0,1006:127
1	11593793	.	T	TGCACACACGCAC	8115.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=62;MQ=70.70;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs113116961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113116961" target="_blank">rs113116961</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3376-644_3376-643insGCACACACGCAC;snpeff.Amino_Acid_length=1392;snpeff.Gene_Name=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389575;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000294484;SAVANT_GENE=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;SAVANT_INFO=+/58.3kb/21/5.2kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3376-637_3376-636insGCACGCACACAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD2+c.3376-637_3376-636insGCACGCACACAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11593793">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:79:1102,79,0:67	1|1:0,19:19:68:1010,68,0:67	1|1:0,24:24:92:1344,92,0:67
1	11594400	.	T	C	1380.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2235663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2235663" target="_blank">rs2235663</a>;ExAC.Info.AC=56546;ExAC.Info.AN=125554;ExAC.Info.AF=0.450;ExAC.Info.AC_Het=26515;ExAC.Info.AC_Hom=14847;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3376-38T>C;snpeff.Amino_Acid_length=1392;snpeff.Gene_Name=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389575;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294484;SAVANT_GENE=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;SAVANT_INFO=+/58.3kb/21/5.2kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3376-38T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD2+c.3376-38T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11594400">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1779:57	0|1:18,22:40:99:709,0,449:57	0|0:19,0:19:57:0,57,699:57
1	11595038	.	A	G	2556.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2076467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076467" target="_blank">rs2076467</a>;ExAC.Info.AC=12000;ExAC.Info.AN=120784;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=4185;ExAC.Info.AC_Hom=366;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3536-30A>G;snpeff.Amino_Acid_length=1392;snpeff.Gene_Name=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389575;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294484;SAVANT_GENE=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;SAVANT_INFO=+/58.3kb/21/5.2kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.3536-30A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD2+c.3536-30A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11595038">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2528:127	0|1:62,49:111:99:1297,0,1920:127	0|0:69,0:69:99:0,207,2537:127
1	11595517	.	C	G	830.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72636810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72636810" target="_blank">rs72636810</a>;ExAC.Info.AC=745;ExAC.Info.AN=125448;ExAC.Info.AF=5.939e-03;ExAC.Info.AC_Het=737;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3650-18C>G;snpeff.Amino_Acid_length=1392;snpeff.Gene_Name=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389575;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294484;SAVANT_GENE=PTCHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD2" target="_blank">PTCHD2</a>;SAVANT_INFO=+/58.3kb/21/5.2kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.3650-18C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD2+c.3650-18C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11595517">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1115:92	0|0:43,0:43:99:0,129,1621:92	0|1:16,15:31:99:434,0,517:92
1	11708736	.	T	C	7593.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1055547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1055547" target="_blank">rs1055547</a>;ExAC.Info.AC=81649;ExAC.Info.AN=126386;ExAC.Info.AF=0.646;ExAC.Info.AC_Het=25460;ExAC.Info.AC_Hom=26977;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.*15A>G;snpeff.Amino_Acid_length=296;snpeff.Gene_Name=FBXO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO2" target="_blank">FBXO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354287;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354287;SAVANT_GENE=FBXO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO2" target="_blank">FBXO2</a>;SAVANT_INFO=-/6.3kb/6/1.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*15A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO2+c.*15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11708736">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,22:47:99:605,0,705:127	1|1:0,63:63:99:2165,189,0:127	0|1:23,22:45:99:542,0,654:127
1	11714368	.	T	G	2510.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2272983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272983" target="_blank">rs2272983</a>;ExAC.Info.AC=14196;ExAC.Info.AN=20298;ExAC.Info.AF=0.699;ExAC.Info.AC_Het=2260;ExAC.Info.AC_Hom=3535;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.22+8A>C;snpeff.Amino_Acid_length=296;snpeff.Gene_Name=FBXO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO2" target="_blank">FBXO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354287;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354287;SAVANT_GENE=FBXO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO2" target="_blank">FBXO2</a>;SAVANT_INFO=-/6.3kb/6/1.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.22+8A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO2+c.22+8A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11714368">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,14:30:99:407,0,371:65	1|1:0,26:26:78:938,78,0:65	0|0:22,0:22:66:0,66,712:65
1	11728894	.	G	A	10722.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=401;MQ=69.86;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3125818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3125818" target="_blank">rs3125818</a>;ExAC.Info.AC=17661;ExAC.Info.AN=126704;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=14939;ExAC.Info.AC_Hom=1357;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg60Gln/c.179G>A;snpeff.Amino_Acid_length=293;snpeff.Gene_Name=FBXO6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO6" target="_blank">FBXO6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376753;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376753;SAVANT_GENE=FBXO6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO6" target="_blank">FBXO6</a>;SAVANT_INFO=+/10.2kb/6/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.179G>A_p.Arg60Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO6+c.179G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11728894">View</a>	GT:AD:DP:GQ:PL:TP	0|1:66,56:122:99:1572,0,1960:127	1|0:81,80:161:99:2334,0,2258:127	0|0:118,0:118:99:0,354,4004:127
1	11735841	.	C	A	8164.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2233024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2233024" target="_blank">rs2233024</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.467-53G>T;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=MAD2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAD2L2" target="_blank">MAD2L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376672;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235310;SAVANT_GENE=MAD2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAD2L2" target="_blank">MAD2L2</a>;SAVANT_INFO=-/17.2kb/11/1.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.428-53G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAD2L2+c.428-53G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11735841">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,27:67:99:614,0,1317:127	1|1:0,73:73:99:2568,219,0:127	0|0:66,0:66:99:0,198,2502:127
1	11735877	.	A	G	3896.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2233022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2233022" target="_blank">rs2233022</a>;ExAC.Info.AC=23846;ExAC.Info.AN=126586;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=18295;ExAC.Info.AC_Hom=2473;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.467-89T>C;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=MAD2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAD2L2" target="_blank">MAD2L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376672;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235310;SAVANT_GENE=MAD2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAD2L2" target="_blank">MAD2L2</a>;SAVANT_INFO=-/17.2kb/11/1.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.428-89T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAD2L2+c.428-89T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11735877">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,38:68:99:1145,0,822:127	0|0:66,0:66:99:0,199,2537:127	1|0:30,24:54:99:617,0,1000:127
1	11737051	.	G	C	13981.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2294638;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294638" target="_blank">rs2294638</a>;ExAC.Info.AC=71234;ExAC.Info.AN=126500;ExAC.Info.AF=0.563;ExAC.Info.AC_Het=28560;ExAC.Info.AC_Hom=19559;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.232-46C>G;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=MAD2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAD2L2" target="_blank">MAD2L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376672;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235310;SAVANT_GENE=MAD2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAD2L2" target="_blank">MAD2L2</a>;SAVANT_INFO=-/17.2kb/11/1.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.232-46C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAD2L2+c.232-46C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11737051">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2604,228,0:127	1|1:0,70:70:99:2585,210,0:127	1|0:44,24:68:99:570,0,1305:127
1	11740358	.	A	G	24920.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs7417320;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7417320" target="_blank">rs7417320</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.159+52T>C;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=MAD2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAD2L2" target="_blank">MAD2L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376672;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235310;SAVANT_GENE=MAD2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAD2L2" target="_blank">MAD2L2</a>;SAVANT_INFO=-/17.2kb/11/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.159+52T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAD2L2+c.159+52T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11740358">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3894,313,0:127	1|1:1,117:118:99:4462,345,0:127	1|0:53,37:90:99:1133,0,1613:127
1	11769457	.	A	C	54.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=68;ExAC.Info.AN=126692;ExAC.Info.AF=5.367e-04;ExAC.Info.AC_Het=42;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Ccc;snpeff.Amino_Acid_Change=p.Thr193Pro/c.577A>C;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=DRAXIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRAXIN" target="_blank">DRAXIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294485;SAVANT_GENE=C1orf187;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf187" target="_blank">C1orf187</a>;SAVANT_INFO=+/34.1kb/7/7.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.577A>C_p.Thr193Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf187+c.577A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11769457">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,6:69:99:0,100,2078:36	0|1:59,14:73:46:46,0,1827:36	0|0:55,9:64:37:0,37,1769:36
1	11771988	.	A	G	9520.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs17037327;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17037327" target="_blank">rs17037327</a>;ExAC.Info.AC=15320;ExAC.Info.AN=126690;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=13265;ExAC.Info.AC_Hom=954;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttA/ttG;snpeff.Amino_Acid_Change=p.Leu241Leu/c.723A>G;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=DRAXIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRAXIN" target="_blank">DRAXIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294485;SAVANT_GENE=C1orf187;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf187" target="_blank">C1orf187</a>;SAVANT_INFO=+/34.1kb/7/7.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.723A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf187+c.723A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11771988">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,47:88:99:1407,0,1072:127	0/1:64,50:114:99:1410,0,1859:127	0/1:37,42:79:99:1380,0,1025:127
1	11772340	.	G	A	6493.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2336034;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2336034" target="_blank">rs2336034</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.758-57G>A;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=DRAXIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRAXIN" target="_blank">DRAXIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294485;SAVANT_GENE=C1orf187;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf187" target="_blank">C1orf187</a>;SAVANT_INFO=+/34.1kb/7/7.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.758-57G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf187+c.758-57G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11772340">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,36:62:99:945,0,856:127	0/1:38,46:84:99:1295,0,1048:127	0/1:38,22:60:99:536,0,1180:127
1	11779762	.	C	T	10967.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs12117076;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12117076" target="_blank">rs12117076</a>;ExAC.Info.AC=33924;ExAC.Info.AN=126556;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=22688;ExAC.Info.AC_Hom=4970;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=9;snpeff.Amino_Acid_Change=c.*9C>T;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=DRAXIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRAXIN" target="_blank">DRAXIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294485;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294485;SAVANT_GENE=C1orf187;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf187" target="_blank">C1orf187</a>;SAVANT_INFO=+/34.1kb/7/7.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*9C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf187+c.*9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11779762">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,32:58:99:855,0,672:127	0|1:33,39:72:99:1492,0,874:127	1|1:0,60:60:99:2020,179,0:127
1	11779770	.	G	C	2176.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72638653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72638653" target="_blank">rs72638653</a>;ExAC.Info.AC=1;ExAC.Info.AN=126616;ExAC.Info.AF=7.898e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=17;snpeff.Amino_Acid_Change=c.*17G>C;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=DRAXIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRAXIN" target="_blank">DRAXIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294485;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294485;SAVANT_GENE=C1orf187;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf187" target="_blank">C1orf187</a>;SAVANT_INFO=+/34.1kb/7/7.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*17G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf187+c.*17G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11779770">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,174,2659:127	0|1:32,37:69:99:1107,0,1724:127	0|0:58,0:58:99:0,174,2070:127
1	11782781	.	G	C	4326.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7533583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7533583" target="_blank">rs7533583</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3028;snpeff.Amino_Acid_Change=c.*3028G>C;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=DRAXIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRAXIN" target="_blank">DRAXIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294485;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294485;SAVANT_GENE=C1orf187;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf187" target="_blank">C1orf187</a>;SAVANT_INFO=+/34.1kb/7/7.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*3028G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf187+c.*3028G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11782781">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,37:62:99:1039,0,718:127	1|0:47,25:72:99:626,0,1317:127	0|0:74,0:74:99:0,222,2555:127
1	11782814	.	G	A	9896.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7414943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7414943" target="_blank">rs7414943</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3061;snpeff.Amino_Acid_Change=c.*3061G>A;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=DRAXIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRAXIN" target="_blank">DRAXIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294485;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294485;SAVANT_GENE=C1orf187;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf187" target="_blank">C1orf187</a>;SAVANT_INFO=+/34.1kb/7/7.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*3061G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf187+c.*3061G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11782814">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,27:62:99:634,0,1033:127	0|1:32,43:75:99:1224,0,847:127	1|1:0,75:75:99:2496,225,0:127
1	11807426	.	C	T	8224.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12752700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12752700" target="_blank">rs12752700</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.63-71C>T;snpeff.Amino_Acid_length=159;snpeff.Gene_Name=AGTRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGTRAP" target="_blank">AGTRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314340;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.63C>T;snpeff.Amino_Acid_length=159;snpeff.Gene_Name=AGTRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGTRAP" target="_blank">AGTRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314340;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.63C>T;snpeff.Amino_Acid_length=159;snpeff.Gene_Name=AGTRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGTRAP" target="_blank">AGTRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314340;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.63C>T;snpeff.Amino_Acid_length=159;snpeff.Gene_Name=AGTRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGTRAP" target="_blank">AGTRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314340;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314340;SAVANT_GENE=AGTRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGTRAP" target="_blank">AGTRAP</a>;SAVANT_INFO=+/14.6kb/5/1.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.63-71C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGTRAP+c.63-71C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11807426">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,44:74:99:1199,0,807:127	1|1:0,65:65:99:2363,195,0:127	0|0:76,0:76:99:0,227,2575:127
1	11824303	.	T	C	2586.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4845877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845877" target="_blank">rs4845877</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.489-85T>C;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.489-85T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.489-85T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11824303">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,15:30:99:452,0,478:72	1|0:20,18:38:99:553,0,689:72	0|0:24,0:24:72:0,72,959:72
1	11824346	.	G	A	3798.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4845878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845878" target="_blank">rs4845878</a>;ExAC.Info.AC=7796;ExAC.Info.AN=17540;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=2618;ExAC.Info.AC_Hom=1476;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.489-42G>A;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.489-42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.489-42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11824346">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,24:56:99:632,0,1010:127	1|0:31,30:61:99:841,0,1037:127	0|0:47,0:47:99:0,141,1801:127
1	11825851	.	G	C	9935.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10218813;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10218813" target="_blank">rs10218813</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.641-63G>C;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.641-63G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.641-63G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11825851">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1831,150,0:127	1|0:36,20:56:99:554,0,1056:127	1|0:21,24:45:99:752,0,661:127
1	11827180	.	A	G	16942.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6540995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6540995" target="_blank">rs6540995</a>;ExAC.Info.AC=20319;ExAC.Info.AN=20600;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=50;ExAC.Info.AC_Hom=4208;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1482+38A>G;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1482+38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.1482+38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11827180">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2331,204,0:127	1|1:0,64:64:99:2241,192,0:127	1|1:0,61:61:99:2258,183,0:127
1	11827304	.	A	G	26697.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6540996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6540996" target="_blank">rs6540996</a>;ExAC.Info.AC=23408;ExAC.Info.AN=23760;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=60;ExAC.Info.AC_Hom=7709;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro503Pro/c.1509A>G;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1509A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.1509A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11827304">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3428,318,0:127	1|1:0,126:126:99:4287,379,0:127	1|1:0,100:100:99:3521,301,0:127
1	11827355	.	A	G	8691.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs6540997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6540997" target="_blank">rs6540997</a>;ExAC.Info.AC=11581;ExAC.Info.AN=28422;ExAC.Info.AF=0.407;ExAC.Info.AC_Het=3205;ExAC.Info.AC_Hom=2213;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1526+34A>G;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1526+34A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.1526+34A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11827355">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2523,219,0:127	1|0:71,31:102:99:758,0,2014:127	1|0:30,19:49:99:540,0,1061:127
1	11828238	.	G	A	8816.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4845880;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845880" target="_blank">rs4845880</a>;ExAC.Info.AC=11026;ExAC.Info.AN=20506;ExAC.Info.AF=0.538;ExAC.Info.AC_Het=3442;ExAC.Info.AC_Hom=2522;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg544Gln/c.1631G>A;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1631G>A_p.Arg544Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.1631G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11828238">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1558,144,0:127	1|0:35,28:63:99:793,0,982:127	1|0:32,17:49:99:469,0,881:127
1	11828319	.	G	A	10728.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4845881;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845881" target="_blank">rs4845881</a>;ExAC.Info.AC=12608;ExAC.Info.AN=22894;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=3542;ExAC.Info.AC_Hom=2656;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg571Gln/c.1712G>A;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1712G>A_p.Arg571Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.1712G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11828319">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1765,144,0:127	1|0:45,32:77:99:925,0,1360:127	1|0:30,28:58:99:834,0,892:127
1	11831543	.	C	T	3710.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72638684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72638684" target="_blank">rs72638684</a>;ExAC.Info.AC=2044;ExAC.Info.AN=21464;ExAC.Info.AF=0.095;ExAC.Info.AC_Het=1553;ExAC.Info.AC_Hom=143;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1770-38C>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1770-38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.1770-38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11831543">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,27:48:99:808,0,624:127	0|0:47,0:47:99:0,141,1645:127	1|0:27,30:57:99:822,0,704:127
1	11831615	.	C	T	9963.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6667720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6667720" target="_blank">rs6667720</a>;ExAC.Info.AC=12067;ExAC.Info.AN=19428;ExAC.Info.AF=0.621;ExAC.Info.AC_Het=3289;ExAC.Info.AC_Hom=3285;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg602Trp/c.1804C>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1804C>T_p.Arg602Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.1804C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11831615">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2150,204,0:127	1|0:41,32:73:99:809,0,1252:127	1|0:30,31:61:99:920,0,923:127
1	11835455	.	T	G	4840.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72638698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72638698" target="_blank">rs72638698</a>;ExAC.Info.AC=1695;ExAC.Info.AN=22954;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=664;ExAC.Info.AC_Hom=49;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2061-37T>G;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.2061-37T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2061-37T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11835455">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,28:50:99:744,0,577:127	0|0:73,0:73:99:0,219,2410:127	1|0:24,34:58:99:993,0,707:127
1	11835556	.	C	T	4207.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41275456;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41275456" target="_blank">rs41275456</a>;ExAC.Info.AC=2157;ExAC.Info.AN=21130;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=1667;ExAC.Info.AC_Hom=159;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg709Cys/c.2125C>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2125C>T_p.Arg709Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2125C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11835556">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,19:41:99:542,0,608:127	0|0:65,0:65:99:0,195,2194:127	1|0:32,31:63:99:906,0,846:127
1	11836450	.	A	G	3892.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12132479;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12132479" target="_blank">rs12132479</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2237-71A>G;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.2237-71A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2237-71A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11836450">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,156,1948:127	0|1:32,35:67:99:1020,0,1212:127	0|1:29,35:64:99:946,0,808:127
1	11836628	.	T	C	8065.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6699881;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6699881" target="_blank">rs6699881</a>;ExAC.Info.AC=12029;ExAC.Info.AN=20022;ExAC.Info.AF=0.601;ExAC.Info.AC_Het=2340;ExAC.Info.AC_Hom=2623;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp782Arg/c.2344T>C;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.2344T>C_p.Trp782Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2344T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11836628">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1847,165,0:127	1|0:25,34:59:99:914,0,738:127	1|0:23,15:38:99:409,0,755:127
1	11836670	.	C	A	798.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41275458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41275458" target="_blank">rs41275458</a>;ExAC.Info.AC=1613;ExAC.Info.AN=22120;ExAC.Info.AF=0.073;ExAC.Info.AC_Het=561;ExAC.Info.AC_Hom=40;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cgg/Agg;snpeff.Amino_Acid_Change=p.Arg796Arg/c.2386C>A;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.2386C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2386C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11836670">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,11:42:99:298,0,1201:107	0|0:36,0:36:99:0,108,1463:107	1|0:17,3:20:60:60,0,585:107
1	11836682	.	C	T	3214.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7538516;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7538516" target="_blank">rs7538516</a>;ExAC.Info.AC=8066;ExAC.Info.AN=18760;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=1104;ExAC.Info.AC_Hom=929;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg800Cys/c.2398C>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.2398C>T_p.Arg800Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2398C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11836682">View</a>	GT:AD:DP:GQ:PL:TP	0|1:7,27:34:99:778,0,248:48	1|0:16,19:35:99:566,0,441:48	0|0:16,0:16:48:0,48,570:48
1	11838696	.	A	G	2727.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72640210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72640210" target="_blank">rs72640210</a>;ExAC.Info.AC=1988;ExAC.Info.AN=23324;ExAC.Info.AF=0.085;ExAC.Info.AC_Het=1237;ExAC.Info.AC_Hom=114;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.660+6T>C;snpeff.Gene_Name=RP11-56N19.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000376620;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2412-21A>G;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.661T>C;snpeff.Gene_Name=RP11-56N19.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000376620;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2412-21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2412-21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11838696">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,29:63:99:741,0,787:127	0|0:44,0:44:99:0,132,1563:127	1|0:19,15:34:99:414,0,520:127
1	11838762	.	G	A	5239.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72640211;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72640211" target="_blank">rs72640211</a>;ExAC.Info.AC=870;ExAC.Info.AN=23684;ExAC.Info.AF=0.037;ExAC.Info.AC_Het=708;ExAC.Info.AC_Hom=25;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.600C>T;snpeff.Gene_Name=RP11-56N19.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000376620;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu819Leu/c.2457G>A;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2457G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2457G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11838762">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,38:76:99:980,0,1207:127	0|0:68,0:68:99:0,204,2516:127	1|0:32,42:74:99:1170,0,891:127
1	11838841	.	A	G	5092.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56001051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56001051" target="_blank">rs56001051</a>;ExAC.Info.AC=2470;ExAC.Info.AN=29606;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=1809;ExAC.Info.AC_Hom=166;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.521T>C;snpeff.Gene_Name=RP11-56N19.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000376620;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser846Gly/c.2536A>G;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2536A>G_p.Ser846Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2536A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11838841">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,40:84:99:1104,0,1707:127	0|0:73,0:73:99:0,220,2946:127	1|0:36,28:64:99:832,0,1099:127
1	11838848	.	G	T	4537.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6697244;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6697244" target="_blank">rs6697244</a>;ExAC.Info.AC=12565;ExAC.Info.AN=27094;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=4036;ExAC.Info.AC_Hom=2752;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.514C>A;snpeff.Gene_Name=RP11-56N19.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000376620;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aTc;snpeff.Amino_Acid_Change=p.Ser848Ile/c.2543G>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2543G>T_p.Ser848Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2543G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11838848">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,44:83:99:1118,0,1564:127	1|0:33,35:68:99:975,0,1014:127	0|0:65,0:65:99:0,195,2609:127
1	11839009	.	C	T	2547.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55685198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55685198" target="_blank">rs55685198</a>;ExAC.Info.AC=2518;ExAC.Info.AN=30600;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=1783;ExAC.Info.AC_Hom=155;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.498-145G>A;snpeff.Gene_Name=RP11-56N19.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000376620;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp865Asp/c.2595C>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2595C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2595C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11839009">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,13:27:99:408,0,658:93	0|0:30,0:30:93:0,93,1584:93	1|0:17,12:29:99:413,0,817:93
1	11839034	.	G	A	2637.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55967531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55967531" target="_blank">rs55967531</a>;ExAC.Info.AC=2383;ExAC.Info.AN=26270;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=1712;ExAC.Info.AC_Hom=154;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.497+146C>T;snpeff.Gene_Name=RP11-56N19.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000376620;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala874Thr/c.2620G>A;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-56N195" target="_blank">RP11-56N195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2620G>A_p.Ala874Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2620G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11839034">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,6:22:99:204,0,727:99	0|0:33,0:33:99:0,99,1571:99	1|0:14,13:27:99:490,0,706:99
1	11839850	.	CT	C	1010.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=67;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs140897322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140897322" target="_blank">rs140897322</a>;ExAC.Info.AC=3626;ExAC.Info.AN=24834;ExAC.Info.AF=0.146;ExAC.Info.AC_Het=2445;ExAC.Info.AC_Hom=393;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2724-8delT;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2724delT;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2724-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2724-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11839850">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,0:18:54:0,54,640:54	0|1:22,12:34:99:326,0,670:54	0|1:8,7:15:99:204,0,240:54
1	11839923	.	C	T	2046.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12561919;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12561919" target="_blank">rs12561919</a>;ExAC.Info.AC=2735;ExAC.Info.AN=23526;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=1974;ExAC.Info.AC_Hom=221;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg930Trp/c.2788C>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2788C>T_p.Arg930Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2788C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11839923">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,15:28:99:420,0,276:127	0|0:49,0:49:99:0,147,1533:127	1|0:11,17:28:99:477,0,266:127
1	11839966	.	G	A	2417.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4846043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4846043" target="_blank">rs4846043</a>;ExAC.Info.AC=10592;ExAC.Info.AN=21582;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=3690;ExAC.Info.AC_Hom=2377;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg944His/c.2831G>A;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2831G>A_p.Arg944His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2831G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11839966">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,15:25:99:383,0,325:51	1|0:25,15:40:99:472,0,982:51	0|0:16,0:16:51:0,51,649:51
1	11839972	.	G	A	1512.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41275462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41275462" target="_blank">rs41275462</a>;ExAC.Info.AC=3801;ExAC.Info.AN=23532;ExAC.Info.AF=0.162;ExAC.Info.AC_Het=2531;ExAC.Info.AC_Hom=420;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg946Gln/c.2837G>A;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2837G>A_p.Arg946Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2837G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11839972">View</a>	GT:AD:DP:GQ:PL:TP	0|0:22,0:22:72:0,72,1010:72	0|1:16,23:39:99:621,0,603:72	0|1:10,5:15:99:155,0,291:72
1	11839998	.	T	C	4974.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=61;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4846044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4846044" target="_blank">rs4846044</a>;ExAC.Info.AC=17383;ExAC.Info.AN=18946;ExAC.Info.AF=0.918;ExAC.Info.AC_Het=663;ExAC.Info.AC_Hom=6997;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp955Arg/c.2863T>C;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2863T>C_p.Trp955Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.2863T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11839998">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:677,57,0:30	1|1:0,32:32:96:1146,96,0:30	1|1:0,10:10:30:345,30,0:30
1	11844214	.	A	T	3756.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12135232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12135232" target="_blank">rs12135232</a>;ExAC.Info.AC=2382;ExAC.Info.AN=20392;ExAC.Info.AF=0.117;ExAC.Info.AC_Het=730;ExAC.Info.AC_Hom=87;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3078-17A>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3078A>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3078A>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3078A>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.3078-17A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.3078-17A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11844214">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2037:127	0|1:56,27:83:99:626,0,1746:127	0|1:30,46:76:99:1272,0,848:127
1	11844330	.	C	T	8660.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10864543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10864543" target="_blank">rs10864543</a>;ExAC.Info.AC=11074;ExAC.Info.AN=23292;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=3859;ExAC.Info.AC_Hom=2460;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3177C>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3177C>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3177C>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala1059Ala/c.3177C>T;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.3177C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.3177C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11844330">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,48:77:99:1441,0,813:127	1|0:48,62:110:99:1861,0,1402:127	0|0:100,0:100:99:0,301,3400:127
1	11845167	.	TTTA	T	2089.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs199890035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199890035" target="_blank">rs199890035</a>;ExAC.Info.AC=1816;ExAC.Info.AN=19986;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=1242;ExAC.Info.AC_Hom=103;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3498-37_3498-35delTTA;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.3498-36_3498-34delTAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.3498-36_3498-34delTAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11845167">View</a>	GT:AD:DP:GQ:PL:TP	1|0:7,11:18:99:441,0,261:127	0|0:44,0:44:99:0,132,1954:127	1|0:13,7:20:99:255,0,554:127
1	11845169	.	T	G	2490.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=80;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11586659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11586659" target="_blank">rs11586659</a>;ExAC.Info.AC=9341;ExAC.Info.AN=16670;ExAC.Info.AF=0.560;ExAC.Info.AC_Het=3004;ExAC.Info.AC_Hom=2041;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3498-36T>G;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.3498-36T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.3498-36T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11845169">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,7:18:99:240,0,441:60	1|0:20,22:42:99:695,0,573:60	0|0:20,0:20:60:0,60,763:60
1	11845222	.	T	C	2003.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55867221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55867221" target="_blank">rs55867221</a>;ExAC.Info.AC=1980;ExAC.Info.AN=20728;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=1520;ExAC.Info.AC_Hom=150;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val1172Ala/c.3515T>C;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342;SAVANT_GENE=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;SAVANT_INFO=+/27.8kb/21/4.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.3515T>C_p.Val1172Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167+c.3515T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11845222">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,17:30:99:438,0,354:127	0|0:62,0:62:99:0,186,2042:127	1|0:22,8:30:99:210,0,638:127
1	11848068	.	G	C	3558.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1537514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1537514" target="_blank">rs1537514</a>;ExAC.Info.AC=2394;ExAC.Info.AN=25498;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=1793;ExAC.Info.AC_Hom=171;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2669;snpeff.Amino_Acid_Change=c.*2669C>G;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tCc;snpeff.Amino_Acid_Change=p.Cys1295Ser/c.3884G>C;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342:ENST00000376592;SAVANT_GENE=C1orf167:MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167:MTHFR" target="_blank">C1orf167:MTHFR</a>;SAVANT_INFO=+/27.8kb/21/4.6kb:-/17.5kb/11/7.1kb;SAVANT_LOC=Ex18:3UTR;SAVANT_HGVS=c.3884G>C_p.Cys1295Ser:c.*2669C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167:MTHFR+c.3884G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11848068">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,26:45:99:715,0,571:127	0|0:57,0:57:99:0,171,1979:127	1|0:40,19:59:99:504,0,1114:127
1	11848139	.	G	A	4610.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbSNP139.ID=rs11559040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11559040" target="_blank">rs11559040</a>;ExAC.Info.AC=4161;ExAC.Info.AN=28406;ExAC.Info.AF=0.146;ExAC.Info.AC_Het=2271;ExAC.Info.AC_Hom=388;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3920+35G>A;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2598;snpeff.Amino_Acid_Change=c.*2598C>T;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342:ENST00000376592;SAVANT_GENE=C1orf167:MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167:MTHFR" target="_blank">C1orf167:MTHFR</a>;SAVANT_INFO=+/27.8kb/21/4.6kb:-/17.5kb/11/7.1kb;SAVANT_LOC=In18/19:3UTR;SAVANT_HGVS=c.3920+35G>A:c.*2598C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167:MTHFR+c.3920+35G>A:c.*2598C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11848139">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1481:127	0|1:36,38:74:99:981,0,1044:127	0|1:21,34:55:99:1344,0,613:127
1	11848143	.	G	A	1809.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbSNP139.ID=rs41275468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41275468" target="_blank">rs41275468</a>;ExAC.Info.AC=31;ExAC.Info.AN=29880;ExAC.Info.AF=1.037e-03;ExAC.Info.AC_Het=21;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3920+39G>A;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2594;snpeff.Amino_Acid_Change=c.*2594C>T;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342:ENST00000376592;SAVANT_GENE=C1orf167:MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167:MTHFR" target="_blank">C1orf167:MTHFR</a>;SAVANT_INFO=+/27.8kb/21/4.6kb:-/17.5kb/11/7.1kb;SAVANT_LOC=In18/19:3UTR;SAVANT_HGVS=c.3920+39G>A:c.*2594C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167:MTHFR+c.3920+39G>A:c.*2594C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11848143">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,138,2050:127	0|0:72,0:72:99:0,216,2764:127	0|1:23,33:56:99:924,0,859:127
1	11848879	.	A	G	8449.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbSNP139.ID=rs2077360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2077360" target="_blank">rs2077360</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4245+76A>G;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1858;snpeff.Amino_Acid_Change=c.*1858T>C;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167" target="_blank">C1orf167</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342:ENST00000376592;SAVANT_GENE=C1orf167:MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167:MTHFR" target="_blank">C1orf167:MTHFR</a>;SAVANT_INFO=+/27.8kb/21/4.6kb:-/17.5kb/11/7.1kb;SAVANT_LOC=In20/21:3UTR;SAVANT_HGVS=c.4245+76A>G:c.*1858T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167:MTHFR+c.4245+76A>G:c.*1858T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11848879">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1375,120,0:80	1|1:0,27:27:81:1020,81,0:80	1|1:0,32:32:96:1233,96,0:80
1	11849447	.	A	G	12426.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs868014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=868014" target="_blank">rs868014</a>;ExAC.Info.AC=22892;ExAC.Info.AN=23448;ExAC.Info.AF=0.976;ExAC.Info.AC_Het=176;ExAC.Info.AC_Hom=8035;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1290;snpeff.Amino_Acid_Change=c.*1290T>C;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg1456Gly/c.4366A>G;snpeff.Amino_Acid_length=1473;snpeff.Gene_Name=C1orf167;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433342;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433342:ENST00000376592;SAVANT_GENE=C1orf167:MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf167:MTHFR" target="_blank">C1orf167:MTHFR</a>;SAVANT_INFO=+/27.8kb/21/4.6kb:-/17.5kb/11/7.1kb;SAVANT_LOC=Ex21:3UTR;SAVANT_HGVS=c.4366A>G_p.Arg1456Gly:c.*1290T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf167:MTHFR+c.4366A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11849447">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1244,108,0:127	1|1:0,53:53:99:1825,159,0:127	1|1:0,57:57:99:2028,171,0:127
1	11851003	.	G	C	7843.4	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbSNP139.ID=rs3818762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818762" target="_blank">rs3818762</a>;ExAC.Info.AC=32622;ExAC.Info.AN=126530;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=24675;ExAC.Info.AC_Hom=2939;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1876-48C>G;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376592;SAVANT_GENE=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;SAVANT_INFO=-/17.5kb/11/7.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1753-48C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTHFR+c.1753-48C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11851003">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,27:65:99:655,0,1208:3	0|1:51,41:92:99:1112,0,1646:3	1|1:5,55:60:1:1772,1,0:3
1	11852300	.	C	T	17748.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbSNP139.ID=rs1476413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1476413" target="_blank">rs1476413</a>;ExAC.Info.AC=33927;ExAC.Info.AN=126704;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=23782;ExAC.Info.AC_Hom=5067;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1755+35G>A;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376592;SAVANT_GENE=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;SAVANT_INFO=-/17.5kb/11/7.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1632+35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTHFR+c.1632+35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11852300">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,70:122:99:2127,0,1325:127	0|1:62,76:138:99:2081,0,1725:127	1|1:0,111:111:99:3744,333,0:127
1	11854457	.	G	A	51892.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=519;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbSNP139.ID=rs4846051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4846051" target="_blank">rs4846051</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Preeclampsia|_association_with;hgmd_2014.2.OMIM_ID=607093;hgmd_2014.2.PubMed=15059157;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15059157" target="_blank">15059157</a>;ExAC.Info.AC=122922;ExAC.Info.AN=126704;ExAC.Info.AF=0.970;ExAC.Info.AC_Het=2668;ExAC.Info.AC_Hom=60107;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe476Phe/c.1428C>T;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376592;SAVANT_GENE=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;SAVANT_INFO=-/17.5kb/11/7.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1305C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTHFR+c.1305C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11854457">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,154:154:99:6080,466,0:127	1|1:0,203:203:99:8242,623,0:127	1|1:0,162:162:99:7224,497,0:127
1	11854476	.	T	G	29487.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=617;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1801131;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801131" target="_blank">rs1801131</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Neural_tube_defect|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=607093;hgmd_2014.2.PubMed=9545395;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=9545395" target="_blank">9545395</a>;ExAC.Info.AC=37355;ExAC.Info.AN=126702;ExAC.Info.AF=0.295;ExAC.Info.AC_Het=25125;ExAC.Info.AC_Hom=6111;Clinvar.ClinicalSignificance=Benign|Uncertain_significance|association|risk_factor;Clinvar.RCVaccession=RCV000003698|RCV000003699|RCV000144922;Clinvar.PhenotypeIDs=|MedGen:C0238198|OMIM:606764|Orphanet:ORPHA44890|MedGen:C1856059;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gCa;snpeff.Amino_Acid_Change=p.Glu470Ala/c.1409A>C;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376592;SAVANT_GENE=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;SAVANT_INFO=-/17.5kb/11/7.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1286A>C_p.Glu429Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTHFR+c.1286A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11854476">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003698%20OR%20RCV000003699%20OR%20RCV000144922" target="_blank">Benign|Uncertain_significance|association|risk_factor</a> 	GT:AD:DP:GQ:PL:TP	1|0:96,97:193:99:2688,0,2527:127	0|1:114,116:230:99:3578,0,3032:127	1|1:0,194:194:99:6873,583,0:127
1	11854755	.	G	A	4951.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbSNP139.ID=rs1994798;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1994798" target="_blank">rs1994798</a>;ExAC.Info.AC=75565;ExAC.Info.AN=126704;ExAC.Info.AF=0.596;ExAC.Info.AC_Het=28843;ExAC.Info.AC_Hom=23344;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1289+31C>T;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376592;SAVANT_GENE=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;SAVANT_INFO=-/17.5kb/11/7.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1166+31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTHFR+c.1166+31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11854755">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,33:72:99:812,0,1054:127	1|0:31,36:67:99:970,0,900:127	0|0:73,0:73:99:0,219,2581:127
1	11854896	.	G	A	8554.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbSNP139.ID=rs2066462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066462" target="_blank">rs2066462</a>;ExAC.Info.AC=12729;ExAC.Info.AN=126696;ExAC.Info.AF=0.100;ExAC.Info.AC_Het=11228;ExAC.Info.AC_Hom=735;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser393Ser/c.1179C>T;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376592;SAVANT_GENE=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;SAVANT_INFO=-/17.5kb/11/7.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1056C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTHFR+c.1056C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11854896">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,48:108:99:1272,0,1760:127	0|0:171,0:171:99:0,514,5852:127	1|0:60,51:111:99:1578,0,1690:127
1	11856378	.	G	A	14490.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=755;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1801133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801133" target="_blank">rs1801133</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Cardiovascular_disease|_association_with;hgmd_2014.2.OMIM_ID=607093;hgmd_2014.2.PubMed=7647779;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=7647779" target="_blank">7647779</a>;ExAC.Info.AC=38287;ExAC.Info.AN=126704;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=24619;ExAC.Info.AC_Hom=6828;Clinvar.ClinicalSignificance=Benign|Likely_pathogenic|Pathogenic|Uncertain_significance|association|risk_factor;Clinvar.RCVaccession=RCV000003697|RCV000144921;Clinvar.PhenotypeIDs=MedGen:C0238198|OMIM:606764|Orphanet:ORPHA44890|MedGen:C1856059;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala263Val/c.788C>T;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376592;SAVANT_GENE=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;SAVANT_INFO=-/17.5kb/11/7.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.665C>T_p.Ala222Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTHFR+c.665C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11856378">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003697%20OR%20RCV000144921" target="_blank">Benign|Likely_pathogenic|Pathogenic|Uncertain_significance|association|risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0|1:133,129:262:99:3198,0,3726:127	1|0:167,116:283:99:2864,0,4972:127	0|0:210,0:210:99:0,630,7229:127
1	11860458	.	C	T	3302.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbSNP139.ID=rs2066471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066471" target="_blank">rs2066471</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.599-79G>A;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376592;SAVANT_GENE=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;SAVANT_INFO=-/17.5kb/11/7.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.476-79G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTHFR+c.476-79G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11860458">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1854:127	0|1:24,27:51:99:897,0,690:127	0|1:24,24:48:99:774,0,733:127
1	11863057	.	G	A	13872.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=509;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Homocystinuria_due_to_MTHFR_deficiency|_236250_(3)|_{Schizophrenia|_susceptibility_to}|_181500_(3)|_{Vascular_disease|_susceptibility_to}_(3)|_{Neural_tube_defects|_susceptibility_to}|_601634_(3)|_{Thromboembolism|_susceptibility_to}|_188050_(3);dbSNP139.ID=rs2066470;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066470" target="_blank">rs2066470</a>;ExAC.Info.AC=12514;ExAC.Info.AN=126704;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=11061;ExAC.Info.AC_Hom=712;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro80Pro/c.240C>T;snpeff.Amino_Acid_length=697;snpeff.Gene_Name=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376583;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376592;SAVANT_GENE=MTHFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR" target="_blank">MTHFR</a>;SAVANT_INFO=-/17.5kb/11/7.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.117C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTHFR+c.117C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11863057">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,77:151:99:2138,0,2025:127	0|0:171,0:171:99:0,514,6013:127	1|0:81,106:187:99:3115,0,2175:127
1	11876662	.	G	A	9886.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=429;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17376328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17376328" target="_blank">rs17376328</a>;ExAC.Info.AC=5620;ExAC.Info.AN=126694;ExAC.Info.AF=0.044;ExAC.Info.AC_Het=5135;ExAC.Info.AC_Hom=167;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.214-10G>A;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214G>A;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214G>A;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214G>A;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214G>A;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.214-10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.214-10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11876662">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,62:119:99:1614,0,1500:127	0|0:179,0:179:99:0,538,6139:127	1|0:61,70:131:99:2054,0,1723:127
1	11879685	.	C	T	11314.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs198393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=198393" target="_blank">rs198393</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346+74C>T;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.346+74C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.346+74C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11879685">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,35:74:99:1034,0,1297:127	0|1:44,47:91:99:1390,0,1434:127	1|1:0,66:66:99:2372,198,0:127
1	11882632	.	T	G	4385.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs55994631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55994631" target="_blank">rs55994631</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.347-120T>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.347-120T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.347-120T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11882632">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,29:64:99:899,0,973:127	0|0:87,1:88:99:0,255,2980:127	1|0:39,31:70:99:1042,0,1183:127
1	11883731	.	C	T	7901.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12567136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12567136" target="_blank">rs12567136</a>;ExAC.Info.AC=17802;ExAC.Info.AN=126698;ExAC.Info.AF=0.141;ExAC.Info.AC_Het=15001;ExAC.Info.AC_Hom=1390;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.454-33C>T;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.454-33C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.454-33C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11883731">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,69:128:99:1835,0,1654:127	0|0:152,0:152:99:0,457,5397:127	1|0:45,55:100:99:1679,0,1336:127
1	11884555	.	A	G	36579.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs198400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=198400" target="_blank">rs198400</a>;ExAC.Info.AC=126625;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=79;ExAC.Info.AC_Hom=63255;snpeff.Effect=sequence_feature[short_sequence_motif:Selectivity_filter_part_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu198Gly/c.593A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.593A>G_p.Glu198Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.593A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11884555">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,135:136:99:4840,373,0:127	1|1:0,163:163:99:6043,490,0:127	1|1:0,145:145:99:5376,436,0:127
1	11887303	.	A	G	10723.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=409;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7537765;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7537765" target="_blank">rs7537765</a>;ExAC.Info.AC=19299;ExAC.Info.AN=126684;ExAC.Info.AF=0.152;ExAC.Info.AC_Het=15955;ExAC.Info.AC_Hom=1618;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.840+25A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.840+25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.840+25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11887303">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,61:123:99:2219,0,2333:127	0|0:165,0:165:99:0,503,7232:127	1|0:71,50:121:99:1966,0,2696:127
1	11887316	.	C	A	10218.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=395;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41275478;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41275478" target="_blank">rs41275478</a>;ExAC.Info.AC=12731;ExAC.Info.AN=126676;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=11157;ExAC.Info.AC_Hom=716;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.840+38C>A;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841C>A;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841C>A;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.840+38C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.840+38C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11887316">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,54:117:99:2120,0,2349:127	0|0:157,0:157:99:0,482,7081:127	1|0:72,49:121:99:1777,0,2725:127
1	11887373	.	T	TG	10718.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=264;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs374218595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374218595" target="_blank">rs374218595</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.840+96_840+97insG;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841_842insG;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841_842insG;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.840+101dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.840+101dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11887373">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,31:82:99:1128,0,1339:127	0|1:63,48:111:99:1153,0,1622:127	1|1:0,71:71:99:2643,219,0:127
1	11887382	.	A	G	3950.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=281;MQ=69.99;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56190030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56190030" target="_blank">rs56190030</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.840+104A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.840+104A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.840+104A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11887382">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,30:88:99:834,0,2233:127	0|0:117,0:117:99:0,351,4542:127	1|0:43,33:76:99:879,0,1290:127
1	11889468	.	A	G	4153.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs535107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=535107" target="_blank">rs535107</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1248+89A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1248+89A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.1248+89A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11889468">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,9:24:99:261,0,465:66	0|1:15,18:33:99:615,0,455:66	1|1:0,22:22:66:874,66,0:66
1	11894263	.	A	G	5370.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=603;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72640263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72640263" target="_blank">rs72640263</a>;ExAC.Info.AC=1350;ExAC.Info.AN=126688;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1289;ExAC.Info.AC_Hom=21;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1527-30A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1527A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1527A>G;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1527-30A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.1527-30A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11894263">View</a>	GT:AD:DP:GQ:PL:TP	0|0:176,0:176:99:0,529,5885:127	0|1:117,100:217:99:2704,0,3333:127	0|0:210,0:210:99:0,631,7130:127
1	11897286	.	G	T	8419.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72640267;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72640267" target="_blank">rs72640267</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2138+73G>T;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2138+73G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.2138+73G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11897286">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,57:119:99:1724,0,2046:127	0|0:142,0:142:99:0,427,5701:127	1|0:56,61:117:99:1903,0,1885:127
1	11897351	.	G	C	8388.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=735;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72640268;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72640268" target="_blank">rs72640268</a>;ExAC.Info.AC=1355;ExAC.Info.AN=126682;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1286;ExAC.Info.AC_Hom=22;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2139-49G>C;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2139-49G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.2139-49G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11897351">View</a>	GT:AD:DP:GQ:PL:TP	0|0:221,0:221:99:0,664,7878:127	0|1:158,135:293:99:4213,0,5047:127	0|0:221,0:221:99:0,665,8671:127
1	11898859	.	G	A	9151.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55741089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55741089" target="_blank">rs55741089</a>;ExAC.Info.AC=5120;ExAC.Info.AN=125318;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4182;ExAC.Info.AC_Hom=134;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala891Thr/c.2671G>A;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2529+142G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.2529+142G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11898859">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,61:119:99:1726,0,1929:127	0|0:164,0:164:99:0,493,6136:127	1|0:65,71:136:99:2000,0,2047:127
1	11899033	.	G	T	22973.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=584;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1023252;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1023252" target="_blank">rs1023252</a>;ExAC.Info.AC=6957;ExAC.Info.AN=33078;ExAC.Info.AF=0.210;ExAC.Info.AC_Het=3753;ExAC.Info.AC_Hom=901;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Tat;snpeff.Amino_Acid_Change=p.Asp949Tyr/c.2845G>T;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376496;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346436;SAVANT_GENE=CLCN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCN6" target="_blank">CLCN6</a>;SAVANT_INFO=+/36.9kb/23/5.6kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2529+316G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCN6+c.2529+316G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11899033">View</a>	GT:AD:DP:GQ:PL:TP	1|0:99,107:206:99:2725,0,2863:127	0|1:115,126:241:99:3446,0,3463:127	1|1:0,137:137:99:4516,410,0:127
1	11905974	.	A	G	8997.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Atrial_fibrillation|_familial|_6|_612201_(3)|Atrial_fibrillation|_familial|_6|_612201_(3);dbSNP139.ID=rs5068;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5068" target="_blank">rs5068</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.781+151A>G;snpeff.Gene_Name=NPPA-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPPA-AS1" target="_blank">NPPA-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446542;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=92;snpeff.Amino_Acid_Change=c.*92T>C;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=NPPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPPA-AS1" target="_blank">NPPA-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376480;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376480;SAVANT_GENE=NPPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPPA" target="_blank">NPPA</a>;SAVANT_INFO=-/2.1kb/3/0.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*92T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPPA+c.*92T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11905974">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,54:124:99:1608,0,1831:127	0|0:180,0:180:99:0,541,6218:127	1|0:70,70:140:99:2039,0,1923:127
1	11917620	.	T	TA	4734.98	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs35207557;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35207557" target="_blank">rs35207557</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=91;snpeff.Amino_Acid_Change=c.*91_*92insT;snpeff.Amino_Acid_length=134;snpeff.Gene_Name=NPPB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPPB" target="_blank">NPPB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376468;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000376468;SAVANT_GENE=NPPB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPPB" target="_blank">NPPB</a>;SAVANT_INFO=-/1.5kb/3/0.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*91dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPPB+c.*91dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11917620">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,23:59:99:524,0,888:86	0|1:23,29:52:99:728,0,520:86	1|1:1,37:38:86:1099,86,0:86
1	11982580	.	G	A	1758.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11555351;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11555351" target="_blank">rs11555351</a>;ExAC.Info.AC=5157;ExAC.Info.AN=115648;ExAC.Info.AF=0.045;ExAC.Info.AC_Het=1950;ExAC.Info.AC_Hom=109;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tTc;snpeff.Amino_Acid_Change=p.Ser667Phe/c.2000C>T;snpeff.Amino_Acid_length=667;snpeff.Gene_Name=KIAA2013;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA2013" target="_blank">KIAA2013</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376576;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376572;SAVANT_GENE=KIAA2013;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA2013" target="_blank">KIAA2013</a>;SAVANT_INFO=-/6.8kb/3/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.1887+113C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA2013+c.1887+113C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11982580">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,176,2005:127	0|1:20,31:51:99:898,0,533:127	0|0:43,0:43:99:0,129,1573:127
1	11983206	.	A	G	1412.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=163;MQ=67.60;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3795408;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795408" target="_blank">rs3795408</a>;ExAC.Info.AC=75296;ExAC.Info.AN=126370;ExAC.Info.AF=0.596;ExAC.Info.AC_Het=28041;ExAC.Info.AC_Hom=21328;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1374A>G;snpeff.Amino_Acid_length=667;snpeff.Gene_Name=KIAA2013;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA2013" target="_blank">KIAA2013</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376576;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1374A>G;snpeff.Amino_Acid_length=667;snpeff.Gene_Name=KIAA2013;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA2013" target="_blank">KIAA2013</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376576;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe458Phe/c.1374T>C;snpeff.Amino_Acid_length=667;snpeff.Gene_Name=KIAA2013;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA2013" target="_blank">KIAA2013</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376576;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376572;SAVANT_GENE=KIAA2013;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA2013" target="_blank">KIAA2013</a>;SAVANT_INFO=-/6.8kb/3/2.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1374T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA2013+c.1374T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:11983206">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1734:127	0|1:38,28:66:99:725,0,991:127	0|0:48,0:48:99:0,144,1656:127
1	12009956	.	G	A	3830.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ehlers-Danlos_syndrome|_type_VI|_225400_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7551175;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7551175" target="_blank">rs7551175</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Bone_mineral_density|_association_with;hgmd_2014.2.OMIM_ID=153454;hgmd_2014.2.PubMed=16758144;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16758144" target="_blank">16758144</a>;ExAC.Info.AC=24391;ExAC.Info.AN=126704;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=17936;ExAC.Info.AC_Hom=3214;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala146Thr/c.436G>A;snpeff.Amino_Acid_length=774;snpeff.Gene_Name=PLOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLOD1" target="_blank">PLOD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376369;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000196061;SAVANT_GENE=PLOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLOD1" target="_blank">PLOD1</a>;SAVANT_INFO=+/40.8kb/19/2.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.295G>A_p.Ala99Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLOD1+c.295G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12009956">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,3357:127	0|1:54,67:121:99:1934,0,1553:127	0|0:112,0:112:99:0,337,3924:127
1	12016957	.	T	G	4202.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=336;MQ=69.97;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ehlers-Danlos_syndrome|_type_VI|_225400_(3);dbSNP139.ID=rs41307745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41307745" target="_blank">rs41307745</a>;ExAC.Info.AC=9003;ExAC.Info.AN=126702;ExAC.Info.AF=0.071;ExAC.Info.AC_Het=8173;ExAC.Info.AC_Hom=415;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.785-17T>G;snpeff.Amino_Acid_length=774;snpeff.Gene_Name=PLOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLOD1" target="_blank">PLOD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376369;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000196061;SAVANT_GENE=PLOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLOD1" target="_blank">PLOD1</a>;SAVANT_INFO=+/40.8kb/19/2.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.644-17T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLOD1+c.644-17T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12016957">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,1:112:99:0,307,3874:127	0|1:62,64:126:99:2120,0,1848:127	0|0:98,0:98:99:0,295,3451:127
1	12023500	.	G	A	3761.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ehlers-Danlos_syndrome|_type_VI|_225400_(3);dbSNP139.ID=rs72641011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72641011" target="_blank">rs72641011</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1239-89G>A;snpeff.Amino_Acid_length=774;snpeff.Gene_Name=PLOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLOD1" target="_blank">PLOD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376369;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000196061;SAVANT_GENE=PLOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLOD1" target="_blank">PLOD1</a>;SAVANT_INFO=+/40.8kb/19/2.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1098-89G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLOD1+c.1098-89G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12023500">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,35:68:99:910,0,969:127	0|0:93,0:93:99:0,280,3508:127	1|0:39,24:63:99:566,0,1298:127
1	12056440	.	C	T	16026.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A2|_609260_(3)|_Hereditary_motor_and_sensory_neuropathy_VI|_601152_(3);dbSNP139.ID=rs2236056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236056" target="_blank">rs2236056</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.474+65C>T;snpeff.Amino_Acid_length=757;snpeff.Gene_Name=MFN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFN2" target="_blank">MFN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235329;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235329;SAVANT_GENE=MFN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFN2" target="_blank">MFN2</a>;SAVANT_INFO=+/33.2kb/19/4.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.474+65C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MFN2+c.474+65C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12056440">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2532,216,0:127	1|1:0,55:55:99:1879,165,0:127	1|1:0,67:67:99:2451,201,0:127
1	12062205	.	A	G	14295.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A2|_609260_(3)|_Hereditary_motor_and_sensory_neuropathy_VI|_601152_(3);dbSNP139.ID=rs2236057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236057" target="_blank">rs2236057</a>;ExAC.Info.AC=83832;ExAC.Info.AN=126666;ExAC.Info.AF=0.662;ExAC.Info.AC_Het=27688;ExAC.Info.AC_Hom=27881;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1160+45A>G;snpeff.Amino_Acid_length=757;snpeff.Gene_Name=MFN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFN2" target="_blank">MFN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235329;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235329;SAVANT_GENE=MFN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFN2" target="_blank">MFN2</a>;SAVANT_INFO=+/33.2kb/19/4.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1160+45A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MFN2+c.1160+45A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12062205">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2058,159,0:127	1|1:0,50:50:99:1861,150,0:127	1|1:0,55:55:99:2126,165,0:127
1	12071433	.	C	G	1864.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_2A2|_609260_(3)|_Hereditary_motor_and_sensory_neuropathy_VI|_601152_(3);dbSNP139.ID=rs3766741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766741" target="_blank">rs3766741</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2205-120C>G;snpeff.Amino_Acid_length=757;snpeff.Gene_Name=MFN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFN2" target="_blank">MFN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235329;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235329;SAVANT_GENE=MFN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFN2" target="_blank">MFN2</a>;SAVANT_INFO=+/33.2kb/19/4.5kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2205-120C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MFN2+c.2205-120C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12071433">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2656:127	0|1:40,30:70:99:951,0,1399:127	0|0:94,0:94:99:0,282,3528:127
1	12082926	.	A	G	15996.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2295283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295283" target="_blank">rs2295283</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Breast_cancer|_reduced_risk|_association_with;hgmd_2014.2.OMIM_ID=608772;hgmd_2014.2.PubMed=20103646;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20103646" target="_blank">20103646</a>;ExAC.Info.AC=86848;ExAC.Info.AN=126584;ExAC.Info.AF=0.686;ExAC.Info.AC_Het=24567;ExAC.Info.AC_Hom=28194;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys167Glu/c.499A>G;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=MIIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIIP" target="_blank">MIIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235332;SAVANT_GENE=MIIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIIP" target="_blank">MIIP</a>;SAVANT_INFO=+/12.6kb/10/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.499A>G_p.Lys167Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIIP+c.499A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12082926">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2434,187,0:127	1|0:48,39:87:99:1227,0,1387:127	1|1:0,61:61:99:2369,183,0:127
1	12144434	.	G	A	4702.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1201113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1201113" target="_blank">rs1201113</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64-87G>A;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263932;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263932;SAVANT_GENE=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;SAVANT_INFO=+/80.8kb/15/3.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.64-87G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF8+c.64-87G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12144434">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,35:61:99:998,0,785:127	1|0:44,23:67:99:600,0,1220:127	0|0:80,1:81:99:0,203,2704:127
1	12157288	.	T	C	11955.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11569835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11569835" target="_blank">rs11569835</a>;ExAC.Info.AC=14361;ExAC.Info.AN=126696;ExAC.Info.AF=0.113;ExAC.Info.AC_Het=12311;ExAC.Info.AC_Hom=981;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.268+14T>C;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263932;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263932;SAVANT_GENE=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;SAVANT_INFO=+/80.8kb/15/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.268+14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF8+c.268+14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12157288">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2355,204,0:127	1|0:34,34:68:99:1105,0,1016:127	1|0:28,35:63:99:1055,0,809:127
1	12170288	.	G	A	6420.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2297729;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297729" target="_blank">rs2297729</a>;ExAC.Info.AC=8769;ExAC.Info.AN=126084;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=7679;ExAC.Info.AC_Hom=304;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.676+27G>A;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263932;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263932;SAVANT_GENE=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;SAVANT_INFO=+/80.8kb/15/3.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.676+27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF8+c.676+27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12170288">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,26:61:99:687,0,974:127	0/1:44,32:76:99:855,0,1266:127	0/1:34,35:69:99:940,0,959:127
1	12175729	.	C	T	26174.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1763642;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1763642" target="_blank">rs1763642</a>;ExAC.Info.AC=126700;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=63346;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg297Cys/c.889C>T;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263932;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263932;SAVANT_GENE=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;SAVANT_INFO=+/80.8kb/15/3.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.889C>T_p.Arg297Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF8+c.889C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12175729">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2701,237,0:127	1|1:0,132:132:99:4703,397,0:127	1|1:0,89:89:99:3152,267,0:127
1	12175818	.	A	G	5729.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs598661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=598661" target="_blank">rs598661</a>;ExAC.Info.AC=36896;ExAC.Info.AN=126638;ExAC.Info.AF=0.291;ExAC.Info.AC_Het=23937;ExAC.Info.AC_Hom=5720;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.946+32A>G;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263932;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263932;SAVANT_GENE=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;SAVANT_INFO=+/80.8kb/15/3.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.946+32A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF8+c.946+32A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12175818">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,22:37:99:664,0,460:127	0/1:36,39:75:99:1232,0,1053:127	0/1:22,20:42:99:615,0,636:127
1	12186205	.	C	T	3072.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs151141150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=151141150" target="_blank">rs151141150</a>;ExAC.Info.AC=874;ExAC.Info.AN=126704;ExAC.Info.AF=6.898e-03;ExAC.Info.AC_Het=862;ExAC.Info.AC_Hom=6;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1256-35C>T;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263932;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263932;SAVANT_GENE=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;SAVANT_INFO=+/80.8kb/15/3.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1256-35C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF8+c.1256-35C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12186205">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2274:127	0|1:43,48:91:99:1555,0,1122:127	0|0:69,0:69:99:0,207,2392:127
1	12198297	.	T	C	3486.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs476488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=476488" target="_blank">rs476488</a>;ExAC.Info.AC=24156;ExAC.Info.AN=126580;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=17702;ExAC.Info.AC_Hom=2991;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser449Ser/c.1347T>C;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263932;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263932;SAVANT_GENE=TNFRSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF8" target="_blank">TNFRSF8</a>;SAVANT_INFO=+/80.8kb/15/3.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1347T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF8+c.1347T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12198297">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,15:27:99:519,0,308:127	1|0:35,24:59:99:722,0,956:127	0|0:47,1:48:99:0,134,1481:127
1	12248942	.	A	G	12287.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=540;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs945439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=945439" target="_blank">rs945439</a>;ExAC.Info.AC=28245;ExAC.Info.AN=126686;ExAC.Info.AF=0.223;ExAC.Info.AC_Het=21716;ExAC.Info.AC_Hom=3187;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys56Lys/c.168A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376259;SAVANT_GENE=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;SAVANT_INFO=+/42.2kb/10/3.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.168A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF1B+c.168A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12248942">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,67:144:99:1875,0,2051:127	1|0:115,96:211:99:2968,0,3282:127	0|0:185,0:185:99:0,556,6383:127
1	12248965	.	A	G	8412.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs945438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=945438" target="_blank">rs945438</a>;ExAC.Info.AC=28050;ExAC.Info.AN=126630;ExAC.Info.AF=0.222;ExAC.Info.AC_Het=21459;ExAC.Info.AC_Hom=3041;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.178+13A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376259;SAVANT_GENE=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;SAVANT_INFO=+/42.2kb/10/3.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.178+13A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF1B+c.178+13A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12248965">View</a>	GT:AD:DP:GQ:PL:TP	0|1:69,53:122:99:1465,0,1863:127	1|0:86,68:154:99:2026,0,2443:127	0|0:145,1:146:99:0,428,4837:127
1	12251765	.	T	G	3157.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs498906;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=498906" target="_blank">rs498906</a>;ExAC.Info.AC=27012;ExAC.Info.AN=126126;ExAC.Info.AF=0.214;ExAC.Info.AC_Het=18550;ExAC.Info.AC_Hom=2590;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.308-66T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376259;SAVANT_GENE=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;SAVANT_INFO=+/42.2kb/10/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.308-66T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF1B+c.308-66T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12251765">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,9:32:99:222,0,612:114	1|0:18,20:38:99:559,0,504:114	0|0:38,0:38:99:0,114,1194:114
1	12251808	.	T	G	3685.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs653667;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=653667" target="_blank">rs653667</a>;ExAC.Info.AC=42450;ExAC.Info.AN=126346;ExAC.Info.AF=0.336;ExAC.Info.AC_Het=26724;ExAC.Info.AC_Hom=6925;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.39T>G;snpeff.Gene_Name=MIR4632;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000584158;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.308-23T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4632" target="_blank">MIR4632</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376259;SAVANT_GENE=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;SAVANT_INFO=+/42.2kb/10/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.308-23T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF1B+c.308-23T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12251808">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,17:41:99:465,0,703:127	1|0:26,16:42:99:473,0,835:127	0|0:52,0:52:99:0,156,1743:127
1	12252955	.	T	G	6643.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1061622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061622" target="_blank">rs1061622</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Systemic_lupus_erythematosus|_association_with;hgmd_2014.2.OMIM_ID=191191;hgmd_2014.2.PubMed=11762942;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11762942" target="_blank">11762942</a>;ExAC.Info.AC=28282;ExAC.Info.AN=126692;ExAC.Info.AF=0.223;ExAC.Info.AC_Het=21752;ExAC.Info.AC_Hom=3183;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aGg;snpeff.Amino_Acid_Change=p.Met196Arg/c.587T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376259;SAVANT_GENE=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;SAVANT_INFO=+/42.2kb/10/3.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.587T>G_p.Met196Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF1B+c.587T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12252955">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,47:94:99:1377,0,1257:127	1|0:57,35:92:99:1044,0,1727:127	0|0:82,1:83:99:0,240,2895:127
1	12261972	.	A	G	1584.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=60;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs5746051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5746051" target="_blank">rs5746051</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.901-52A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.901A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.901A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.901A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.901A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376259;SAVANT_GENE=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;SAVANT_INFO=+/42.2kb/10/3.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.901-52A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF1B+c.901-52A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12261972">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,12:21:99:406,0,266:51	1|0:8,14:22:99:369,0,214:51	0|0:17,0:17:51:0,51,559:51
1	12262298	.	G	A	4443.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs5746053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5746053" target="_blank">rs5746053</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1105+70G>A;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376259;SAVANT_GENE=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;SAVANT_INFO=+/42.2kb/10/3.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1105+70G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF1B+c.1105+70G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12262298">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,32:58:99:945,0,614:127	1|0:41,33:74:99:876,0,1155:127	0|0:50,0:50:99:0,150,1642:127
1	12267265	.	A	G	2439.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1061624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061624" target="_blank">rs1061624</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=188;snpeff.Amino_Acid_Change=c.*188A>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376259;SAVANT_GENE=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;SAVANT_INFO=+/42.2kb/10/3.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*188A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF1B+c.*188A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12267265">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,7:20:99:167,0,525:65	1|1:0,22:22:66:826,66,0:65	0|0:27,0:27:81:0,81,1077:65
1	12267270	.	T	G	1858.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=65;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs5030792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5030792" target="_blank">rs5030792</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=193;snpeff.Amino_Acid_Change=c.*193T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376259;SAVANT_GENE=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;SAVANT_INFO=+/42.2kb/10/3.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*193T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF1B+c.*193T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12267270">View</a>	GT:AD:DP:GQ:PL:TP	1|0:7,14:21:99:435,0,252:63	0|0:19,0:19:63:0,63,940:63	1|0:13,12:25:99:415,0,433:63
1	12267292	.	C	T	3646.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=53;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3397" target="_blank">rs3397</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Tuberculosis|_association_with;hgmd_2014.2.OMIM_ID=191191;hgmd_2014.2.PubMed=20007930;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20007930" target="_blank">20007930</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=215;snpeff.Amino_Acid_Change=c.*215C>T;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376259;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376259;SAVANT_GENE=TNFRSF1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF1B" target="_blank">TNFRSF1B</a>;SAVANT_INFO=+/42.2kb/10/3.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*215C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFRSF1B+c.*215C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12267292">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:501,45,0:44	1|1:0,18:18:54:704,54,0:44	1|0:9,11:20:99:383,0,281:44
1	12304694	.	A	G	3112.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs79820334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79820334" target="_blank">rs79820334</a>;ExAC.Info.AC=1971;ExAC.Info.AN=126690;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=1919;ExAC.Info.AC_Hom=25;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.447+20A>G;snpeff.Amino_Acid_length=4388;snpeff.Gene_Name=VPS13D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS13D" target="_blank">VPS13D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358136;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358136;SAVANT_GENE=VPS13D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS13D" target="_blank">VPS13D</a>;SAVANT_INFO=+/282.0kb/70/16.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.447+20A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VPS13D+c.447+20A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12304694">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,30:49:99:954,0,476:127	0|0:53,0:53:99:0,159,1824:127	1|0:21,17:38:99:536,0,633:127
1	12343030	.	T	C	7842.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=789;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41279454;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41279454" target="_blank">rs41279454</a>;ExAC.Info.AC=2;ExAC.Info.AN=126704;ExAC.Info.AF=1.578e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile1624Thr/c.4871T>C;snpeff.Amino_Acid_length=4388;snpeff.Gene_Name=VPS13D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS13D" target="_blank">VPS13D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358136;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358136;SAVANT_GENE=VPS13D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS13D" target="_blank">VPS13D</a>;SAVANT_INFO=+/282.0kb/70/16.3kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.4871T>C_p.Ile1624Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VPS13D+c.4871T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12343030">View</a>	GT:AD:DP:GQ:PL:TP	0|0:255,0:255:99:0,765,7906:127	0|0:281,0:281:99:0,844,9102:127	0|1:119,134:253:99:3940,0,3256:127
1	12401868	.	A	C	16039.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28551666;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28551666" target="_blank">rs28551666</a>;ExAC.Info.AC=100233;ExAC.Info.AN=126704;ExAC.Info.AF=0.791;ExAC.Info.AC_Het=20660;ExAC.Info.AC_Hom=39779;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro2886Pro/c.8658A>C;snpeff.Amino_Acid_length=4388;snpeff.Gene_Name=VPS13D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS13D" target="_blank">VPS13D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358136;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358136;SAVANT_GENE=VPS13D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS13D" target="_blank">VPS13D</a>;SAVANT_INFO=+/282.0kb/70/16.3kb;SAVANT_LOC=Ex41;SAVANT_HGVS=c.8658A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VPS13D+c.8658A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12401868">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2183,192,0:127	1|1:0,69:69:99:2510,207,0:127	1|1:0,51:51:99:1912,153,0:127
1	12567232	.	A	G	20499.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7554257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7554257" target="_blank">rs7554257</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13035+85A>G;snpeff.Amino_Acid_length=4388;snpeff.Gene_Name=VPS13D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS13D" target="_blank">VPS13D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358136;snpeff.Exon_Rank=69;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358136;SAVANT_GENE=VPS13D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS13D" target="_blank">VPS13D</a>;SAVANT_INFO=+/282.0kb/70/16.3kb;SAVANT_LOC=In69/70;SAVANT_HGVS=c.13035+85A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VPS13D+c.13035+85A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12567232">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1948,156,0:127	1|1:0,93:93:99:3177,279,0:127	1|1:0,74:74:99:2638,222,0:127
1	12628471	.	A	C	2000.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4072868;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4072868" target="_blank">rs4072868</a>;ExAC.Info.AC=24041;ExAC.Info.AN=126704;ExAC.Info.AF=0.190;ExAC.Info.AC_Het=18469;ExAC.Info.AC_Hom=2785;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.825-18T>G;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376223;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376223;SAVANT_GENE=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;SAVANT_INFO=-/49.8kb/6/1.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.825-18T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHRS3+c.825-18T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12628471">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1754:113	0|1:24,37:61:99:1019,0,664:113	0|0:38,0:38:99:0,114,1352:113
1	12638964	.	T	C	6463.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2275875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275875" target="_blank">rs2275875</a>;ExAC.Info.AC=105001;ExAC.Info.AN=126630;ExAC.Info.AF=0.829;ExAC.Info.AC_Het=16810;ExAC.Info.AC_Hom=43143;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro160Pro/c.480A>G;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376223;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376223;SAVANT_GENE=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;SAVANT_INFO=-/49.8kb/6/1.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.480A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHRS3+c.480A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12638964">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,28:45:99:838,0,487:123	0|1:25,19:44:99:553,0,755:123	1|1:0,41:41:99:1512,123,0:123
1	12639168	.	A	G	7108.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3128461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3128461" target="_blank">rs3128461</a>;ExAC.Info.AC=85029;ExAC.Info.AN=112306;ExAC.Info.AF=0.757;ExAC.Info.AC_Het=5268;ExAC.Info.AC_Hom=11557;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.459+153T>C;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376223;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376223;SAVANT_GENE=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;SAVANT_INFO=-/49.8kb/6/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.459+153T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHRS3+c.459+153T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12639168">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,18:32:99:522,0,353:127	0|1:27,29:56:99:889,0,662:127	1|1:0,45:45:99:1832,135,0:127
1	12639197	.	GCCA	G	2571.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs144457264;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144457264" target="_blank">rs144457264</a>;ExAC.Info.AC=13758;ExAC.Info.AN=125010;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=8176;ExAC.Info.AC_Hom=768;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.459+121_459+123delTGG;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376223;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000376223;SAVANT_GENE=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;SAVANT_INFO=-/49.8kb/6/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.459+121_459+123delTGG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHRS3+c.459+121_459+123delTGG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12639197">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1969:127	0|1:36,34:70:99:1309,0,1404:127	0|0:63,0:63:99:0,190,2835:127
1	12639226	.	C	T	2024.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61776831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61776831" target="_blank">rs61776831</a>;ExAC.Info.AC=17779;ExAC.Info.AN=126472;ExAC.Info.AF=0.141;ExAC.Info.AC_Het=13075;ExAC.Info.AC_Hom=1418;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.459+95G>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376223;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376223;SAVANT_GENE=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;SAVANT_INFO=-/49.8kb/6/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.459+95G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHRS3+c.459+95G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12639226">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,2030:127	0|1:38,36:74:99:1031,0,1162:127	0|0:78,0:78:99:0,234,2839:127
1	12640650	.	C	T	2172.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11540058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11540058" target="_blank">rs11540058</a>;ExAC.Info.AC=18612;ExAC.Info.AN=126696;ExAC.Info.AF=0.147;ExAC.Info.AC_Het=15097;ExAC.Info.AC_Hom=1746;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr80Thr/c.240G>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376223;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376223;SAVANT_GENE=DHRS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHRS3" target="_blank">DHRS3</a>;SAVANT_INFO=-/49.8kb/6/1.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.240G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHRS3+c.240G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12640650">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,255,2836:127	0|1:44,36:80:99:1105,0,1241:127	0|0:57,0:57:99:0,171,2003:127
1	12776344	.	A	T	17234.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3000859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3000859" target="_blank">rs3000859</a>;ExAC.Info.AC=97424;ExAC.Info.AN=125394;ExAC.Info.AF=0.777;ExAC.Info.AC_Het=20212;ExAC.Info.AC_Hom=38538;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3136;snpeff.Amino_Acid_Change=c.-7A>T;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=AADACL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AADACL3" target="_blank">AADACL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359318;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=AADACL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AADACL3" target="_blank">AADACL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359318;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359318;SAVANT_GENE=AADACL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AADACL3" target="_blank">AADACL3</a>;SAVANT_INFO=+/9.8kb/4/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-3136A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AADACL3+c.-3136A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12776344">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2300,198,0:127	1|1:0,71:71:99:2600,213,0:127	1|1:0,72:72:99:2445,216,0:127
1	12779560	.	T	C	20385.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3010876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3010876" target="_blank">rs3010876</a>;ExAC.Info.AC=104152;ExAC.Info.AN=125236;ExAC.Info.AF=0.832;ExAC.Info.AC_Het=17262;ExAC.Info.AC_Hom=43403;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp27Asp/c.81T>C;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=AADACL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AADACL3" target="_blank">AADACL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359318;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359318;SAVANT_GENE=AADACL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AADACL3" target="_blank">AADACL3</a>;SAVANT_INFO=+/9.8kb/4/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.81T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AADACL3+c.81T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12779560">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,58:120:99:1720,0,1564:127	1|1:0,152:152:99:5388,457,0:127	0|1:61,62:123:99:1708,0,1625:127
1	12779618	.	T	C	12086.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3010877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3010877" target="_blank">rs3010877</a>;ExAC.Info.AC=104022;ExAC.Info.AN=125248;ExAC.Info.AF=0.831;ExAC.Info.AC_Het=17387;ExAC.Info.AC_Hom=43271;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Ccc;snpeff.Amino_Acid_Change=p.Ser47Pro/c.139T>C;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=AADACL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AADACL3" target="_blank">AADACL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359318;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359318;SAVANT_GENE=AADACL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AADACL3" target="_blank">AADACL3</a>;SAVANT_INFO=+/9.8kb/4/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.139T>C_p.Ser47Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AADACL3+c.139T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12779618">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,35:75:99:1082,0,1079:127	1|1:0,94:94:99:3420,283,0:127	0|1:40,28:68:99:771,0,1143:127
1	12785494	.	G	T	8895.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=530;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7513079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7513079" target="_blank">rs7513079</a>;ExAC.Info.AC=89819;ExAC.Info.AN=125180;ExAC.Info.AF=0.718;ExAC.Info.AC_Het=24668;ExAC.Info.AC_Hom=32489;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tTt;snpeff.Amino_Acid_Change=p.Cys195Phe/c.584G>T;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=AADACL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AADACL3" target="_blank">AADACL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359318;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359318;SAVANT_GENE=AADACL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AADACL3" target="_blank">AADACL3</a>;SAVANT_INFO=+/9.8kb/4/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.584G>T_p.Cys195Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AADACL3+c.584G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12785494">View</a>	GT:AD:DP:GQ:PL:TP	0|0:171,0:171:99:0,514,5876:127	0|1:106,95:201:99:2555,0,3168:127	0|1:92,66:158:99:1913,0,2824:127
1	12835868	.	T	C	5956.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1812242;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1812242" target="_blank">rs1812242</a>;ExAC.Info.AC=98017;ExAC.Info.AN=126702;ExAC.Info.AF=0.774;ExAC.Info.AC_Het=21846;ExAC.Info.AC_Hom=38067;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met157Thr/c.470T>C;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PRAMEF12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF12" target="_blank">PRAMEF12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357726;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357726;SAVANT_GENE=PRAMEF12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF12" target="_blank">PRAMEF12</a>;SAVANT_INFO=+/3.1kb/3/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.470T>C_p.Met157Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF12+c.470T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12835868">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,253,2998:127	0|1:54,59:113:99:1671,0,1599:127	0|1:40,45:85:99:1327,0,1177:127
1	12837634	.	T	A	2906.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=156;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs848578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=848578" target="_blank">rs848578</a>;ExAC.Info.AC=96709;ExAC.Info.AN=126704;ExAC.Info.AF=0.763;ExAC.Info.AC_Het=22274;ExAC.Info.AC_Hom=37591;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atA;snpeff.Amino_Acid_Change=p.Ile448Ile/c.1344T>A;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=PRAMEF12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF12" target="_blank">PRAMEF12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357726;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357726;SAVANT_GENE=PRAMEF12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF12" target="_blank">PRAMEF12</a>;SAVANT_INFO=+/3.1kb/3/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1344T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF12+c.1344T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12837634">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,1:40:87:0,87,1353:87	0|1:33,26:59:99:698,0,881:87	0|1:28,29:57:99:775,0,815:87
1	12854530	.	C	G	11140.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=619;MQ=68.46;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1063776;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1063776" target="_blank">rs1063776</a>;ExAC.Info.AC=108054;ExAC.Info.AN=126620;ExAC.Info.AF=0.853;ExAC.Info.AC_Het=14964;ExAC.Info.AC_Hom=46488;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Caa/Gaa;snpeff.Amino_Acid_Change=p.Gln252Glu/c.754C>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=PRAMEF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF1" target="_blank">PRAMEF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332296;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332296;SAVANT_GENE=PRAMEF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF1" target="_blank">PRAMEF1</a>;SAVANT_INFO=+/5.2kb/4/2.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.754C>G_p.Gln252Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF1+c.754C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12854530">View</a>	GT:AD:DP:GQ:PL:TP	0|0:196,0:196:99:0,589,6950:127	0|1:120,115:235:99:3055,0,3471:127	0|1:96,92:188:99:2535,0,2656:127
1	12854544	.	T	C	5070.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=536;MQ=68.39;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1063778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1063778" target="_blank">rs1063778</a>;ExAC.Info.AC=45865;ExAC.Info.AN=126556;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=26553;ExAC.Info.AC_Hom=9604;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val256Val/c.768T>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=PRAMEF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF1" target="_blank">PRAMEF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332296;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332296;SAVANT_GENE=PRAMEF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF1" target="_blank">PRAMEF1</a>;SAVANT_INFO=+/5.2kb/4/2.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.768T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF1+c.768T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12854544">View</a>	GT:AD:DP:GQ:PL:TP	0|0:165,0:165:99:0,496,5623:127	0|1:109,100:209:99:2554,0,3032:127	0|0:162,0:162:99:0,487,5548:127
1	12888601	.	G	GC	3727.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=51;MQ=64.02;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs113914674;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113914674" target="_blank">rs113914674</a>;ExAC.Info.AC=125931;ExAC.Info.AN=126466;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=443;ExAC.Info.AC_Hom=62152;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=79;snpeff.Amino_Acid_Change=c.-79_-80insG;snpeff.Amino_Acid_length=436;snpeff.Gene_Name=PRAMEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF11" target="_blank">PRAMEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000535591;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000535591;SAVANT_GENE=PRAMEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF11" target="_blank">PRAMEF11</a>;SAVANT_INFO=-/6.8kb/4/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-79dupG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF11+c.-79dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12888601">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:503,45,0:47	1|1:0,20:20:60:672,60,0:47	1|1:0,16:16:48:538,48,0:47
1	12907379	.	T	C	1586.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=247;MQ=67.05;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs74055698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74055698" target="_blank">rs74055698</a>;ExAC.Info.AC=26687;ExAC.Info.AN=126642;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=24468;ExAC.Info.AC_Hom=960;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gGt;snpeff.Amino_Acid_Change=p.Asp255Gly/c.764A>G;snpeff.Amino_Acid_length=293;snpeff.Gene_Name=HNRNPCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPCL1" target="_blank">HNRNPCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317869;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317869;SAVANT_GENE=HNRNPCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPCL1" target="_blank">HNRNPCL1</a>;SAVANT_INFO=-/1.3kb/2/1.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.764A>G_p.Asp255Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HNRNPCL1+c.764A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12907379">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,249,2766:127	0|0:93,0:93:99:0,280,3256:127	0|1:43,28:71:99:812,0,1230:127
1	12907885	.	T	C	16890.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=221;MQ=60.56;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs848418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=848418" target="_blank">rs848418</a>;ExAC.Info.AC=62828;ExAC.Info.AN=126704;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=62826;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:RRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>C;snpeff.Amino_Acid_length=293;snpeff.Gene_Name=HNRNPCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPCL1" target="_blank">HNRNPCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317869;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala86Ala/c.258A>G;snpeff.Amino_Acid_length=293;snpeff.Gene_Name=HNRNPCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPCL1" target="_blank">HNRNPCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317869;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317869;SAVANT_GENE=HNRNPCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPCL1" target="_blank">HNRNPCL1</a>;SAVANT_INFO=-/1.3kb/2/1.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.258A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HNRNPCL1+c.258A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12907885">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2401,207,0:127	1|1:0,68:68:99:2232,204,0:127	1|1:0,84:84:99:2857,252,0:127
1	12919064	.	T	G	914.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=122;MQ=69.82;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3204790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3204790" target="_blank">rs3204790</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=21598;ExAC.Info.AN=126526;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=17889;ExAC.Info.AC_Hom=1840;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTa/gGa;snpeff.Amino_Acid_Change=p.Val67Gly/c.200T>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000240189;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000240189;SAVANT_GENE=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;SAVANT_INFO=+/4.8kb/4/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.200T>G_p.Val67Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF2+c.200T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12919064">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,132,2238:127	0|0:50,0:50:99:0,153,2686:127	0|1:17,13:30:99:476,0,874:127
1	12919079	.	C	G	892.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9659529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9659529" target="_blank">rs9659529</a>;ExAC.Info.AC=13482;ExAC.Info.AN=126566;ExAC.Info.AF=0.107;ExAC.Info.AC_Het=11546;ExAC.Info.AC_Hom=963;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aGg;snpeff.Amino_Acid_Change=p.Thr72Arg/c.215C>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000240189;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000240189;SAVANT_GENE=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;SAVANT_INFO=+/4.8kb/4/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.215C>G_p.Thr72Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF2+c.215C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12919079">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,150,2439:127	0|0:46,0:46:99:0,147,2609:127	0|1:13,12:25:99:465,0,710:127
1	12919928	.	A	G	4544.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=467;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72472698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72472698" target="_blank">rs72472698</a>;ExAC.Info.AC=13706;ExAC.Info.AN=126342;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=11303;ExAC.Info.AC_Hom=1186;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys223Arg/c.668A>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000240189;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000240189;SAVANT_GENE=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;SAVANT_INFO=+/4.8kb/4/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.668A>G_p.Lys223Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF2+c.668A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12919928">View</a>	GT:AD:DP:GQ:PL:TP	0|0:151,0:151:99:0,457,6754:127	0|0:183,0:183:99:0,569,8381:127	0|1:73,60:133:99:2291,0,2922:127
1	12919934	.	A	G	4884.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=494;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3204805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3204805" target="_blank">rs3204805</a>;ExAC.Info.AC=19471;ExAC.Info.AN=126320;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=15932;ExAC.Info.AC_Hom=1753;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAt/tGt;snpeff.Amino_Acid_Change=p.Tyr225Cys/c.674A>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000240189;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000240189;SAVANT_GENE=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;SAVANT_INFO=+/4.8kb/4/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.674A>G_p.Tyr225Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF2+c.674A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12919934">View</a>	GT:AD:DP:GQ:PL:TP	0|0:157,0:157:99:0,476,7035:127	0|0:193,0:193:99:0,587,8620:127	0|1:79,65:144:99:2461,0,3048:127
1	12919963	.	T	G	4568.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=536;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72472699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72472699" target="_blank">rs72472699</a>;cosmic68.Histology_subtype=acute_lymphoblastic_leukaemia;ExAC.Info.AC=15495;ExAC.Info.AN=126454;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=12756;ExAC.Info.AC_Hom=1218;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Ggc;snpeff.Amino_Acid_Change=p.Cys235Gly/c.703T>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000240189;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000240189;SAVANT_GENE=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;SAVANT_INFO=+/4.8kb/4/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.703T>G_p.Cys235Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF2+c.703T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12919963">View</a>	GT:AD:DP:GQ:PL:TP	0|0:173,0:173:99:0,519,5582:127	0|0:208,0:208:99:0,625,7296:127	0|1:79,76:155:99:2303,0,2305:127
1	12921110	.	A	G	2076.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=330;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12139546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12139546" target="_blank">rs12139546</a>;cosmic68.Histology_subtype=acute_lymphoblastic_leukaemia;ExAC.Info.AC=13536;ExAC.Info.AN=126478;ExAC.Info.AF=0.107;ExAC.Info.AC_Het=11468;ExAC.Info.AC_Hom=1011;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr301Ala/c.901A>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000240189;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000240189;SAVANT_GENE=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;SAVANT_INFO=+/4.8kb/4/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.901A>G_p.Thr301Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF2+c.901A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12921110">View</a>	GT:AD:DP:GQ:PL:TP	0|0:102,0:102:99:0,306,3268:127	0|0:144,0:144:99:0,433,4732:127	0|1:51,33:84:99:1057,0,1479:127
1	12921127	.	A	G	2624.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=331;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12139549;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12139549" target="_blank">rs12139549</a>;ExAC.Info.AC=33510;ExAC.Info.AN=126458;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=23522;ExAC.Info.AC_Hom=4901;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttA/ttG;snpeff.Amino_Acid_Change=p.Leu306Leu/c.918A>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000240189;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000240189;SAVANT_GENE=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;SAVANT_INFO=+/4.8kb/4/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.918A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF2+c.918A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12921127">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,307,5117:127	0|0:137,0:137:99:0,412,7350:127	0|1:57,36:93:99:1331,0,2590:127
1	12921132	.	A	G	2540.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12139550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12139550" target="_blank">rs12139550</a>;ExAC.Info.AC=13476;ExAC.Info.AN=126496;ExAC.Info.AF=0.107;ExAC.Info.AC_Het=11497;ExAC.Info.AC_Hom=974;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu308Gly/c.923A>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000240189;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000240189;SAVANT_GENE=PRAMEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF2" target="_blank">PRAMEF2</a>;SAVANT_INFO=+/4.8kb/4/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.923A>G_p.Glu308Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF2+c.923A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:12921132">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,307,5123:127	0|0:136,0:136:99:0,421,7405:127	0|1:58,35:93:99:1289,0,2636:127
1	13183439	.	T	C	6429.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=143;MQ=66.26;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs28713604;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28713604" target="_blank">rs28713604</a>;ExAC.Info.AC=95594;ExAC.Info.AN=126704;ExAC.Info.AF=0.754;ExAC.Info.AC_Het=31069;ExAC.Info.AC_Hom=32227;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.677A>G;snpeff.Gene_Name=HNRNPCP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPCP5" target="_blank">HNRNPCP5</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000449855;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPCP5" target="_blank">HNRNPCP5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HNRNPCP5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:13183439">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1437,111,0:110	1|0:44,24:68:99:716,0,1305:110	1|0:21,17:38:99:536,0,602:110
1	13695974	.	T	C	1548.04	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=20;MQ=26.44;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs142734546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142734546" target="_blank">rs142734546</a>;ExAC.Info.AC=8541;ExAC.Info.AN=14206;ExAC.Info.AF=0.601;ExAC.Info.AC_Het=59;ExAC.Info.AC_Hom=715;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr331Ala/c.991A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PRAMEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF19" target="_blank">PRAMEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540591;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540591;SAVANT_GENE=PRAMEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF19" target="_blank">PRAMEF19</a>;SAVANT_INFO=-/3.5kb/3/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.991A>G_p.Thr331Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF19+c.991A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:13695974">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,6:6:18:195,18,0:12	1|1:0,10:10:30:318,30,0:12	1|1:0,4:4:12:123,12,0:12
1	13696022	.	A	G	3101.95	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=29;MQ=26.77;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201136502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201136502" target="_blank">rs201136502</a>;ExAC.Info.AC=58065;ExAC.Info.AN=62726;ExAC.Info.AF=0.926;ExAC.Info.AC_Het=602;ExAC.Info.AC_Hom=698;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp315Arg/c.943T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PRAMEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF19" target="_blank">PRAMEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540591;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540591;SAVANT_GENE=PRAMEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF19" target="_blank">PRAMEF19</a>;SAVANT_INFO=-/3.5kb/3/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.943T>C_p.Trp315Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF19+c.943T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:13696022">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,8:8:24:360,24,0:20	1|1:0,15:15:45:675,45,0:20	1|1:0,6:6:21:304,21,0:20
1	13696029	.	A	G	3101.95	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=30;MQ=26.84;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs200753201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200753201" target="_blank">rs200753201</a>;ExAC.Info.AC=57938;ExAC.Info.AN=62572;ExAC.Info.AF=0.926;ExAC.Info.AC_Het=626;ExAC.Info.AC_Hom=1046;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys312Cys/c.936T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PRAMEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF19" target="_blank">PRAMEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540591;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540591;SAVANT_GENE=PRAMEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF19" target="_blank">PRAMEF19</a>;SAVANT_INFO=-/3.5kb/3/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.936T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF19+c.936T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:13696029">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,8:8:24:360,24,0:20	1|1:0,15:15:45:675,45,0:20	1|1:0,7:7:21:304,21,0:20
1	13696047	.	A	T	2709.95	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=28;MQ=26.86;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199733857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199733857" target="_blank">rs199733857</a>;ExAC.Info.AC=65060;ExAC.Info.AN=70350;ExAC.Info.AF=0.925;ExAC.Info.AC_Het=1091;ExAC.Info.AC_Hom=876;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaA;snpeff.Amino_Acid_Change=p.Asp306Glu/c.918T>A;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PRAMEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF19" target="_blank">PRAMEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540591;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540591;SAVANT_GENE=PRAMEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF19" target="_blank">PRAMEF19</a>;SAVANT_INFO=-/3.5kb/3/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.918T>A_p.Asp306Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF19+c.918T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:13696047">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,7:7:21:277,21,0:20	1|1:0,14:14:42:592,42,0:20	1|1:0,7:7:21:300,21,0:20
1	13696054	.	G	A	2495.96	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=21;MQ=26.89;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs200378484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200378484" target="_blank">rs200378484</a>;ExAC.Info.AC=64838;ExAC.Info.AN=70214;ExAC.Info.AF=0.923;ExAC.Info.AC_Het=902;ExAC.Info.AC_Hom=486;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tTc;snpeff.Amino_Acid_Change=p.Ser304Phe/c.911C>T;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PRAMEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF19" target="_blank">PRAMEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540591;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540591;SAVANT_GENE=PRAMEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAMEF19" target="_blank">PRAMEF19</a>;SAVANT_INFO=-/3.5kb/3/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.911C>T_p.Ser304Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAMEF19+c.911C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:13696054">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:18:248,18,0:20	1|1:0,11:11:36:529,36,0:20	1|1:0,6:6:21:300,21,0:20
1	13937089	.	G	T	514.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=73;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2487643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2487643" target="_blank">rs2487643</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.559+78G>T;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=PDPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDPN" target="_blank">PDPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294489;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.560G>T;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=PDPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDPN" target="_blank">PDPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294489;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.560G>T;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=PDPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDPN" target="_blank">PDPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294489;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.560G>T;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=PDPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDPN" target="_blank">PDPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294489;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.560G>T;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=PDPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDPN" target="_blank">PDPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294489;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.560G>T;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=PDPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDPN" target="_blank">PDPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294489;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294489;SAVANT_GENE=PDPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDPN" target="_blank">PDPN</a>;SAVANT_INFO=+/34.5kb/6/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.559+78G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDPN+c.559+78G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:13937089">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,0:18:54:0,54,680:53	0|0:30,1:31:83:0,83,1153:53	0|1:14,10:24:99:276,0,478:53
1	13940864	.	C	G	34534.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=414;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2486188;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2486188" target="_blank">rs2486188</a>;ExAC.Info.AC=120874;ExAC.Info.AN=126704;ExAC.Info.AF=0.954;ExAC.Info.AC_Het=5374;ExAC.Info.AC_Hom=57739;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668C>G;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=PDPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDPN" target="_blank">PDPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294489;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gGa;snpeff.Amino_Acid_Change=p.Ala223Gly/c.668C>G;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=PDPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDPN" target="_blank">PDPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294489;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294489;SAVANT_GENE=PDPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDPN" target="_blank">PDPN</a>;SAVANT_INFO=+/34.5kb/6/3.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.668C>G_p.Ala223Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDPN+c.668C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:13940864">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:4130,358,0:127	1|1:0,157:157:99:5521,471,0:127	1|1:0,138:138:99:4909,414,0:127
1	14096821	.	T	C	2885.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1210110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1210110" target="_blank">rs1210110</a>;ExAC.Info.AC=22454;ExAC.Info.AN=112122;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=14853;ExAC.Info.AC_Hom=2463;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.512-2752T>C;snpeff.Amino_Acid_length=1718;snpeff.Gene_Name=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235372;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235372;SAVANT_GENE=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;SAVANT_INFO=+/120.2kb/10/7.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.512-2752T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM2+c.512-2752T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:14096821">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,11:30:99:322,0,559:127	1|0:27,29:56:99:809,0,848:127	0|0:49,0:49:99:0,150,1673:127
1	14105139	.	T	A	9415.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=552;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2076324;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076324" target="_blank">rs2076324</a>;ExAC.Info.AC=46237;ExAC.Info.AN=125820;ExAC.Info.AF=0.367;ExAC.Info.AC_Het=30236;ExAC.Info.AC_Hom=6328;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.849T>A;snpeff.Amino_Acid_length=1718;snpeff.Gene_Name=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235372;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaA;snpeff.Amino_Acid_Change=p.Asp283Glu/c.849T>A;snpeff.Amino_Acid_length=1718;snpeff.Gene_Name=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235372;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235372;SAVANT_GENE=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;SAVANT_INFO=+/120.2kb/10/7.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.849T>A_p.Asp283Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM2+c.849T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:14105139">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,72:150:99:2053,0,2216:127	1|0:112,69:181:99:1836,0,3497:127	0|0:221,0:221:99:0,664,7723:127
1	14105298	.	G	A	17844.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=860;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1203678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1203678" target="_blank">rs1203678</a>;ExAC.Info.AC=44989;ExAC.Info.AN=126704;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=27774;ExAC.Info.AC_Hom=8592;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu336Glu/c.1008G>A;snpeff.Amino_Acid_length=1718;snpeff.Gene_Name=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235372;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235372;SAVANT_GENE=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;SAVANT_INFO=+/120.2kb/10/7.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1008G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM2+c.1008G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:14105298">View</a>	GT:AD:DP:GQ:PL:TP	0|1:144,107:251:99:3141,0,4030:127	1|0:159,149:308:99:4358,0,4641:127	0|0:301,0:301:99:0,905,10987:127
1	14106394	.	A	ACTC	15152.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2308040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2308040" target="_blank">rs2308040</a>;hgmd_2014.2.CLASS=DM;hgmd_2014.2.PHEN=Bone_mineral_density|_association_with;hgmd_2014.2.OMIM_ID=601196;hgmd_2014.2.PubMed=15579774;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15579774" target="_blank">15579774</a>;ExAC.Info.AC=59248;ExAC.Info.AN=126700;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=30376;ExAC.Info.AC_Hom=14417;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=act/aCTCct;snpeff.Amino_Acid_Change=p.Thr702_Pro703insThrPro/c.2105_2106insCTC;snpeff.Amino_Acid_length=1718;snpeff.Gene_Name=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235372;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000235372;SAVANT_GENE=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;SAVANT_INFO=+/120.2kb/10/7.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.2107_2109dupCCT_p.Pro703dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM2+c.2107_2109dupCCT+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:14106394">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,52:112:99:2019,0,2432:127	1|0:101,92:193:99:3551,0,4232:127	0|0:151,0:151:99:0,455,7155:127
1	14109114	.	A	G	9938.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1203651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1203651" target="_blank">rs1203651</a>;ExAC.Info.AC=48935;ExAC.Info.AN=126702;ExAC.Info.AF=0.386;ExAC.Info.AC_Het=28922;ExAC.Info.AC_Hom=9942;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser1608Ser/c.4824A>G;snpeff.Amino_Acid_length=1718;snpeff.Gene_Name=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235372;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235372;SAVANT_GENE=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;SAVANT_INFO=+/120.2kb/10/7.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.4824A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM2+c.4824A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:14109114">View</a>	GT:AD:DP:GQ:PL:TP	0|1:66,75:141:99:2062,0,1739:127	1|0:91,88:179:99:2307,0,2499:127	0|0:136,0:136:99:0,407,4314:127
1	14109408	.	CTT	C	57.52	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=33;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5036+83_5036+84delTT;snpeff.Amino_Acid_length=1718;snpeff.Gene_Name=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235372;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000235372;SAVANT_GENE=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;SAVANT_INFO=+/120.2kb/10/7.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.5036+97_5036+98delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM2+c.5036+97_5036+98delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:14109408">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,2:7:50:50,0,141:4	0/1:15,2:17:4:4,0,430:4	0/1:8,1:9:9:9,0,236:4
1	14143003	.	A	G	22490.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1046331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1046331" target="_blank">rs1046331</a>;ExAC.Info.AC=104577;ExAC.Info.AN=126704;ExAC.Info.AF=0.825;ExAC.Info.AC_Het=17787;ExAC.Info.AC_Hom=43386;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro1706Pro/c.5118A>G;snpeff.Amino_Acid_length=1718;snpeff.Gene_Name=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235372;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235372;SAVANT_GENE=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;SAVANT_INFO=+/120.2kb/10/7.9kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.5118A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM2+c.5118A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:14143003">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3044,279,0:127	1|0:64,74:138:99:1875,0,1718:127	1|1:0,111:111:99:3737,333,0:127
1	14149601	.	C	T	18841.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2697969;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2697969" target="_blank">rs2697969</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*24-53C>T;snpeff.Amino_Acid_length=1718;snpeff.Gene_Name=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235372;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235372;SAVANT_GENE=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;SAVANT_INFO=+/120.2kb/10/7.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*6559C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM2+c.*6559C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:14149601">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3172,294,0:127	1|0:63,38:101:99:1030,0,1752:127	1|1:0,103:103:99:3451,309,0:127
1	14149622	.	T	C	21898.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2697968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2697968" target="_blank">rs2697968</a>;ExAC.Info.AC=89743;ExAC.Info.AN=124112;ExAC.Info.AF=0.723;ExAC.Info.AC_Het=18345;ExAC.Info.AC_Hom=25732;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*24-32T>C;snpeff.Amino_Acid_length=1718;snpeff.Gene_Name=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235372;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235372;SAVANT_GENE=PRDM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM2" target="_blank">PRDM2</a>;SAVANT_INFO=+/120.2kb/10/7.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*6580T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM2+c.*6580T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:14149622">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:3754,333,0:127	1|0:70,45:115:99:1236,0,2061:127	1|1:0,118:118:99:3997,355,0:127
1	14507057	.	A	G	12295.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10928050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10928050" target="_blank">rs10928050</a>;ExAC.Info.AC=2865;ExAC.Info.AN=22414;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=2135;ExAC.Info.AC_Hom=247;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000412667;SAVANT_GENE=C1orf196;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf196" target="_blank">C1orf196</a>;SAVANT_INFO=+/288.0kb/2/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.249A>G_p.Ile83Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf196+c.249A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:14507057">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,41:100:99:1293,0,1580:127	0|0:135,0:135:99:0,405,4655:127	1|1:0,114:114:99:4202,343,0:127
1	15382667	.	T	C	2936.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=310;MQ=69.98;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2076570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076570" target="_blank">rs2076570</a>;ExAC.Info.AC=2332;ExAC.Info.AN=126704;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2214;ExAC.Info.AC_Hom=59;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.807T>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.807T>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.807T>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.807T>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn269Asn/c.807T>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376030;SAVANT_GENE=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;SAVANT_INFO=+/519.3kb/15/6.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.807T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZN+c.807T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15382667">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,321,3660:127	0|0:104,1:105:99:0,278,3706:127	0|1:46,52:98:99:1487,0,1386:127
1	15386606	.	A	C	930.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41269407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41269407" target="_blank">rs41269407</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.917-62A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376030;SAVANT_GENE=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;SAVANT_INFO=+/519.3kb/15/6.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.917-62A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZN+c.917-62A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15386606">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2148:127	0|0:69,0:69:99:0,207,2457:127	0|1:18,16:34:99:484,0,549:127
1	15386628	.	T	C	5596.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2073091;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2073091" target="_blank">rs2073091</a>;ExAC.Info.AC=27658;ExAC.Info.AN=126682;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=19529;ExAC.Info.AC_Hom=3999;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.917-40T>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_PPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.917T>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376030;SAVANT_GENE=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;SAVANT_INFO=+/519.3kb/15/6.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.917-40T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZN+c.917-40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15386628">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,30:63:99:965,0,897:101	0|0:63,0:63:99:0,189,2233:101	1|1:0,34:34:99:1299,102,0:101
1	15390145	.	A	G	8642.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=279;MQ=69.83;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2076565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076565" target="_blank">rs2076565</a>;ExAC.Info.AC=39626;ExAC.Info.AN=126688;ExAC.Info.AF=0.313;ExAC.Info.AC_Het=24159;ExAC.Info.AC_Hom=7588;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1098+27A>G;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376030;SAVANT_GENE=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;SAVANT_INFO=+/519.3kb/15/6.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1098+27A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZN+c.1098+27A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15390145">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,38:92:99:1112,0,1335:127	0|0:110,0:110:99:0,330,3479:127	1|1:0,77:77:99:2642,231,0:127
1	15390178	.	C	T	6088.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=209;MQ=69.93;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2076564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076564" target="_blank">rs2076564</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1098+60C>T;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376030;SAVANT_GENE=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;SAVANT_INFO=+/519.3kb/15/6.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1098+60C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZN+c.1098+60C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15390178">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,23:60:99:569,0,1179:127	0|0:89,0:89:99:0,267,3154:127	1|1:0,60:60:99:2008,179,0:127
1	15392094	.	C	G	1428.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12071695;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12071695" target="_blank">rs12071695</a>;ExAC.Info.AC=5432;ExAC.Info.AN=126632;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=4230;ExAC.Info.AC_Hom=507;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1099-32C>G;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376030;SAVANT_GENE=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;SAVANT_INFO=+/519.3kb/15/6.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1099-32C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZN+c.1099-32C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15392094">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2085:127	0|0:55,0:55:99:0,165,1923:127	0|1:18,26:44:99:733,0,527:127
1	15430031	.	A	T	2576.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs45547637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45547637" target="_blank">rs45547637</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1881+75A>T;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1882A>T;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1882A>T;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376030;SAVANT_GENE=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;SAVANT_INFO=+/519.3kb/15/6.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1881+75A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZN+c.1881+75A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15430031">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,21:50:99:567,0,799:127	0|0:59,0:59:99:0,177,1959:127	1|0:25,16:41:99:443,0,778:127
1	15438990	.	G	A	3038.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10803354;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10803354" target="_blank">rs10803354</a>;ExAC.Info.AC=54616;ExAC.Info.AN=126160;ExAC.Info.AF=0.433;ExAC.Info.AC_Het=27153;ExAC.Info.AC_Hom=11271;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala706Thr/c.2116G>A;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376030;SAVANT_GENE=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;SAVANT_INFO=+/519.3kb/15/6.0kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2116G>A_p.Ala706Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZN+c.2116G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15438990">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,324,3568:127	0|1:63,60:123:99:1538,0,1643:127	0|0:72,0:72:99:0,216,2713:127
1	15439083	.	A	AAGGTCTTTTTTTTCTTCTCCCAGCGGC	10591.25	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=182;MQ=70.19;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs140963536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140963536" target="_blank">rs140963536</a>;ExAC.Info.AC=28038;ExAC.Info.AN=103214;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=3043;ExAC.Info.AC_Hom=2475;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2163+47_2163+48insAGGTCTTTTTTTTCTTCTCCCAGCGGC;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000376030;SAVANT_GENE=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;SAVANT_INFO=+/519.3kb/15/6.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2163+58_2163+59insTCTTCTCCCAGCGGCAGGTCTTTTTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZN+c.2163+58_2163+59insTCTTCTCCCAGCGGCAGGTCTTTTTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15439083">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,31:56:99:1406,0,1214:127	0|0:70,0:70:99:0,227,3703:127	1|1:0,56:56:99:2636,180,0:127
1	15441029	.	T	C	2340.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34135602;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34135602" target="_blank">rs34135602</a>;ExAC.Info.AC=6243;ExAC.Info.AN=126412;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5687;ExAC.Info.AC_Hom=182;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr742Tyr/c.2226T>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376030;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376030;SAVANT_GENE=KAZN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZN" target="_blank">KAZN</a>;SAVANT_INFO=+/519.3kb/15/6.0kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2226T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZN+c.2226T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15441029">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2322:127	0|1:39,43:82:99:1189,0,1037:127	0|0:81,0:81:99:0,243,2803:127
1	15495100	.	C	T	3088.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41307800;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41307800" target="_blank">rs41307800</a>;ExAC.Info.AC=37;ExAC.Info.AN=23824;ExAC.Info.AF=1.553e-03;ExAC.Info.AC_Het=36;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-267+15820C>T;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376014;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg91His/c.272G>A;snpeff.Amino_Acid_length=126;snpeff.Gene_Name=C1orf195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376005;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376005:ENST00000434578;SAVANT_GENE=C1orf195:TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf195:TMEM51" target="_blank">C1orf195:TMEM51</a>;SAVANT_INFO=-/2.8kb/2/0.4kb:+/66.7kb/4/2.0kb;SAVANT_LOC=Ex2:5UTR;SAVANT_HGVS=c.272G>A_p.Arg91His:c.-46484C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf195:TMEM51+c.272G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15495100">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2433:127	0|0:107,0:107:99:0,321,3593:127	0|1:68,55:123:99:1563,0,2008:127
1	15497727	.	T	C	7381.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs6429722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6429722" target="_blank">rs6429722</a>;ExAC.Info.AC=19201;ExAC.Info.AN=20148;ExAC.Info.AF=0.953;ExAC.Info.AC_Het=599;ExAC.Info.AC_Hom=8191;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-267+18447T>C;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376014;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgG;snpeff.Amino_Acid_Change=p.Arg16Arg/c.48A>G;snpeff.Amino_Acid_length=126;snpeff.Gene_Name=C1orf195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376005;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376005:ENST00000434578;SAVANT_GENE=C1orf195:TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf195:TMEM51" target="_blank">C1orf195:TMEM51</a>;SAVANT_INFO=-/2.8kb/2/0.4kb:+/66.7kb/4/2.0kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.48A>G_p.=:c.-43857T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf195:TMEM51+c.48A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15497727">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,38:85:99:955,0,1190:114	0|1:37,31:68:99:963,0,1069:114	1|1:0,38:38:99:1374,114,0:114
1	15497832	.	T	C	4888.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs41307794;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41307794" target="_blank">rs41307794</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-267+18552T>C;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376014;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000434578;SAVANT_GENE=TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;SAVANT_INFO=+/66.7kb/4/2.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-43752T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM51+c.-43752T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15497832">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,21:46:99:607,0,702:127	0/1:19,21:40:99:696,0,570:127	0/1:16,24:40:99:764,0,434:127
1	15541537	.	C	T	10414.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3753314;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753314" target="_blank">rs3753314</a>;ExAC.Info.AC=109781;ExAC.Info.AN=125952;ExAC.Info.AF=0.872;ExAC.Info.AC_Het=12049;ExAC.Info.AC_Hom=43926;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=47;snpeff.Amino_Acid_Change=c.-47C>T;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376014;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000434578;SAVANT_GENE=TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;SAVANT_INFO=+/66.7kb/4/2.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-47C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM51+c.-47C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15541537">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:820,75,0:127	1|1:0,52:52:99:1661,156,0:127	1|1:0,52:52:99:1770,156,0:127
1	15541607	.	T	C	1524.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3820065;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820065" target="_blank">rs3820065</a>;ExAC.Info.AC=19745;ExAC.Info.AN=126688;ExAC.Info.AF=0.156;ExAC.Info.AC_Het=16150;ExAC.Info.AC_Hom=1769;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn8Asn/c.24T>C;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376014;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000434578;SAVANT_GENE=TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;SAVANT_INFO=+/66.7kb/4/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.24T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM51+c.24T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15541607">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1848:127	0|0:75,0:75:99:0,225,2689:127	0|1:37,27:64:99:781,0,1131:127
1	15546077	.	G	A	15257.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=450;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3753313;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753313" target="_blank">rs3753313</a>;ExAC.Info.AC=35865;ExAC.Info.AN=126700;ExAC.Info.AF=0.283;ExAC.Info.AC_Het=24441;ExAC.Info.AC_Hom=5699;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro200Pro/c.600G>A;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376014;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000434578;SAVANT_GENE=TMEM51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM51" target="_blank">TMEM51</a>;SAVANT_INFO=+/66.7kb/4/2.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.600G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM51+c.600G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15546077">View</a>	GT:AD:DP:GQ:PL:TP	0/1:71,64:135:99:1684,0,2127:127	0/1:91,90:181:99:2434,0,2549:127	0/1:62,72:134:99:2001,0,1860:127
1	15573775	.	A	G	927.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=27;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1780598;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1780598" target="_blank">rs1780598</a>;ExAC.Info.AC=2153;ExAC.Info.AN=6132;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=17;ExAC.Info.AC_Hom=17;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=4506;snpeff.Amino_Acid_Change=c.-131A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4506A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.-4506A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15573775">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,2:7:69:69,0,204:55	0/1:9,2:11:57:57,0,337:55	0/1:7,2:9:63:63,0,288:55
1	15573950	.	A	C	932.84	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=20;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1780599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1780599" target="_blank">rs1780599</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-15+59A>C;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4331A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.-4331A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15573950">View</a>	GT:AD:DP:GQ:PL:TP	0|0:3,0:3:9:0,9,118:9	0|1:3,7:10:58:211,0,58:9	0|1:4,3:7:97:97,0,136:9
1	15616139	.	G	A	10007.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs486557;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=486557" target="_blank">rs486557</a>;ExAC.Info.AC=7359;ExAC.Info.AN=27336;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=4725;ExAC.Info.AC_Hom=1027;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg182His/c.545G>A;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.545G>A_p.Arg182His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.545G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15616139">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,50:88:99:1339,0,1041:127	0/1:79,52:131:99:1361,0,2258:127	0/1:48,44:92:99:1296,0,1344:127
1	15616183	.	T	C	8989.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs487338;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=487338" target="_blank">rs487338</a>;ExAC.Info.AC=11599;ExAC.Info.AN=27092;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=5121;ExAC.Info.AC_Hom=2425;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.568+21T>C;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.568+21T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.568+21T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15616183">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,35:73:99:1064,0,1082:127	0/1:73,47:120:99:1335,0,2247:127	0/1:41,44:85:99:1239,0,1219:127
1	15653563	.	C	T	11089.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3765357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3765357" target="_blank">rs3765357</a>;ExAC.Info.AC=7640;ExAC.Info.AN=29136;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=4768;ExAC.Info.AC_Hom=1086;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2718G>A;snpeff.Gene_Name=RP3-467K16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-467K162" target="_blank">RP3-467K162</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428747;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His494His/c.1482C>T;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-467K162" target="_blank">RP3-467K162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1482C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.1482C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15653563">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,44:82:99:1152,0,1090:127	0|1:43,50:93:99:1483,0,1316:127	1|1:2,69:71:99:2430,164,0:127
1	15654737	.	C	CT	2486.51	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=119;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs144888008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144888008" target="_blank">rs144888008</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1543_1544insA;snpeff.Gene_Name=RP3-467K16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-467K162" target="_blank">RP3-467K162</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428747;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1558-35_1558-34insT;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-467K162" target="_blank">RP3-467K162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1558-22dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.1558-22dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15654737">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,13:35:99:214,0,366:31	0/1:29,20:49:99:338,0,576:31	0/1:6,29:35:31:550,0,31:31
1	15655944	.	G	A	5485.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56017972;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56017972" target="_blank">rs56017972</a>;ExAC.Info.AC=41;ExAC.Info.AN=29124;ExAC.Info.AF=1.408e-03;ExAC.Info.AC_Het=36;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.337C>T;snpeff.Gene_Name=RP3-467K16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-467K162" target="_blank">RP3-467K162</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428747;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0139.1:CTCF];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val605Met/c.1813G>A;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-467K162" target="_blank">RP3-467K162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1813G>A_p.Val605Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.1813G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15655944">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,33:66:99:890,0,1008:127	1|0:35,44:79:99:1322,0,1133:127	0|0:48,0:48:99:0,144,1867:127
1	15668276	.	G	A	4131.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs763821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=763821" target="_blank">rs763821</a>;ExAC.Info.AC=10659;ExAC.Info.AN=28572;ExAC.Info.AF=0.373;ExAC.Info.AC_Het=6072;ExAC.Info.AC_Hom=2043;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.101+1996C>T;snpeff.Gene_Name=RP3-467K16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-467K162" target="_blank">RP3-467K162</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428747;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly651Arg/c.1951G>A;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-467K162" target="_blank">RP3-467K162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1951G>A_p.Gly651Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.1951G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15668276">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,11:37:99:287,0,812:87	0|1:19,14:33:99:449,0,591:87	1|1:0,29:29:87:1026,87,0:87
1	15687059	.	A	G	3672.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4661330;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4661330" target="_blank">rs4661330</a>;ExAC.Info.AC=6500;ExAC.Info.AN=28836;ExAC.Info.AF=0.225;ExAC.Info.AC_Het=4578;ExAC.Info.AC_Hom=785;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2756A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2756A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2756A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2756A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2756A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2756A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu919Gly/c.2756A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2756A>G_p.Glu919Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.2756A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15687059">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,24:44:99:718,0,539:127	0|0:69,0:69:99:0,207,2294:127	1|0:24,22:46:99:654,0,693:127
1	15707137	.	C	T	3957.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3737690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737690" target="_blank">rs3737690</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3640-60C>T;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3640-60C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.3640-60C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15707137">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,43:83:99:1223,0,1172:127	0|0:91,0:91:99:0,273,3039:127	1|0:31,16:47:99:407,0,868:127
1	15708540	.	A	G	5284.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1010294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1010294" target="_blank">rs1010294</a>;ExAC.Info.AC=8832;ExAC.Info.AN=31318;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=5164;ExAC.Info.AC_Hom=1577;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3973A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3973A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile1325Val/c.3973A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.3973A>G_p.Ile1325Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.3973A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15708540">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,36:64:99:1035,0,768:127	0|0:80,0:80:99:0,240,2757:127	1|0:30,36:66:99:1054,0,837:127
1	15709555	.	A	G	1923.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3820067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820067" target="_blank">rs3820067</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4123-748A>G;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.4123-748A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.4123-748A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15709555">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,14:33:99:371,0,499:127	0|0:47,0:47:99:0,141,1738:127	1|0:18,17:35:99:445,0,522:127
1	15710411	.	G	C	2219.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2496338;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2496338" target="_blank">rs2496338</a>;ExAC.Info.AC=5679;ExAC.Info.AN=21582;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=3039;ExAC.Info.AC_Hom=784;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Ctc;snpeff.Amino_Acid_Change=p.Val1411Leu/c.4231G>C;snpeff.Amino_Acid_length=1453;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375999;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375999;SAVANT_GENE=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=+/141.1kb/33/4.5kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4231G>C_p.Val1411Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+c.4231G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15710411">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,15:28:99:489,0,410:114	0|0:38,0:38:99:0,114,1360:114	1|0:15,14:29:99:368,0,520:114
1	15723843	.	G	A	3320.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2294490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294490" target="_blank">rs2294490</a>;ExAC.Info.AC=10294;ExAC.Info.AN=27948;ExAC.Info.AF=0.368;ExAC.Info.AC_Het=5878;ExAC.Info.AC_Hom=2007;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15723843">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,253,3264:127	0|1:60,60:120:99:1679,0,1827:127	0|0:88,0:88:99:0,264,3289:127
1	15724003	.	A	G	7004.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2253371;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2253371" target="_blank">rs2253371</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FHAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHAD1" target="_blank">FHAD1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHAD1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15724003">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,46:89:99:1422,0,1306:127	0|0:114,0:114:99:0,342,3971:127	1|0:34,44:78:99:1372,0,971:127
1	15754484	.	T	C	3675.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2473356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2473356" target="_blank">rs2473356</a>;ExAC.Info.AC=17245;ExAC.Info.AN=20570;ExAC.Info.AF=0.838;ExAC.Info.AC_Het=2050;ExAC.Info.AC_Hom=6610;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.592-605T>C;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=EFHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFHD2" target="_blank">EFHD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375980;SAVANT_GENE=EFHD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFHD2" target="_blank">EFHD2</a>;SAVANT_INFO=+/20.4kb/4/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.592-605T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFHD2+c.592-605T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15754484">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,12:32:99:374,0,592:127	0/1:15,22:37:99:669,0,386:127	0/1:20,10:30:99:320,0,608:127
1	15769876	.	G	GC	22836.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs35149641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35149641" target="_blank">rs35149641</a>;ExAC.Info.AC=126698;ExAC.Info.AN=126702;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=63313;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.357-37_357-36insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357_358insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357_358insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357_358insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357_358insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357_358insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357_358insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357_358insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357_358insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357_358insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357_358insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357_358insC;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375949;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375949;SAVANT_GENE=CTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTRC" target="_blank">CTRC</a>;SAVANT_INFO=+/8.2kb/8/0.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.357-36dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTRC+c.357-36dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15769876">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2734,235,0:127	1|1:0,95:95:99:3376,286,0:127	1|1:0,57:57:99:2067,174,0:127
1	15783096	.	GA	G	38447.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=602;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5772641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5772641" target="_blank">rs5772641</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5772641" target="_blank">rs5772641</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15783096">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:4713,507,0:127	1|1:0,237:237:99:6591,710,0:127	1|1:1,195:196:99:5432,560,0:127
1	15783117	.	C	CA	68213.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=790;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5772642;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5772642" target="_blank">rs5772642</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5772642" target="_blank">rs5772642</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15783117">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,225:225:99:8624,708,0:127	1|1:0,296:296:99:11271,917,0:127	1|1:0,269:269:99:10082,818,0:127
1	15788269	.	A	C	21122.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3737696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737696" target="_blank">rs3737696</a>;ExAC.Info.AC=86209;ExAC.Info.AN=122568;ExAC.Info.AF=0.703;ExAC.Info.AC_Het=15272;ExAC.Info.AC_Hom=20092;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.227+116A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359621;SAVANT_GENE=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;SAVANT_INFO=+/15.4kb/8/0.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.227+116A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA2A+c.227+116A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15788269">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2524,222,0:127	1|1:0,83:83:99:2997,249,0:127	1|1:0,90:90:99:3222,270,0:127
1	15789297	.	A	C	7474.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=825;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3815787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3815787" target="_blank">rs3815787</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=42876;ExAC.Info.AN=126704;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=27256;ExAC.Info.AC_Hom=7806;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcC;snpeff.Amino_Acid_Change=p.Ala99Ala/c.297A>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359621;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359621;SAVANT_GENE=CELA2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2A" target="_blank">CELA2A</a>;SAVANT_INFO=+/15.4kb/8/0.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.297A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA2A+c.297A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15789297">View</a>	GT:AD:DP:GQ:PL:TP	0|0:230,0:230:99:0,690,7734:127	0|1:205,146:351:99:3756,0,5714:127	0|0:244,0:244:99:0,732,8272:127
1	15802925	.	G	T	2365.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72643675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72643675" target="_blank">rs72643675</a>;ExAC.Info.AC=3549;ExAC.Info.AN=126702;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=3306;ExAC.Info.AC_Hom=114;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.41-27G>T;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.41G>T;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.41G>T;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375910;SAVANT_GENE=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;SAVANT_INFO=+/15.3kb/8/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.41-27G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA2B+c.41-27G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15802925">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,273,3219:127	0|1:50,45:95:99:1202,0,1413:127	0|0:117,0:117:99:0,351,3933:127
1	15812432	.	A	G	19640.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6429745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6429745" target="_blank">rs6429745</a>;ExAC.Info.AC=126477;ExAC.Info.AN=126702;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=221;ExAC.Info.AC_Hom=63128;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln177Arg/c.530A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375910;SAVANT_GENE=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;SAVANT_INFO=+/15.3kb/8/0.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.530A>G_p.Gln177Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA2B+c.530A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15812432">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2530,222,0:127	1|1:0,93:93:99:3253,279,0:127	1|1:0,77:77:99:2600,231,0:127
1	15813836	.	T	C	12415.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=457;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61742388;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61742388" target="_blank">rs61742388</a>;ExAC.Info.AC=835;ExAC.Info.AN=126704;ExAC.Info.AF=6.590e-03;ExAC.Info.AC_Het=821;ExAC.Info.AC_Hom=7;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His232His/c.696T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375910;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375910;SAVANT_GENE=CELA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA2B" target="_blank">CELA2B</a>;SAVANT_INFO=+/15.3kb/8/0.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.696T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA2B+c.696T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15813836">View</a>	GT:AD:DP:GQ:PL:TP	0|1:73,81:154:99:2098,0,1808:127	1|0:87,84:171:99:2284,0,2171:127	0|0:132,0:132:99:0,396,4275:127
1	15832543	.	T	C	2610.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1052576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052576" target="_blank">rs1052576</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Multiple_sclerosis|_association_with;hgmd_2014.2.OMIM_ID=602234;hgmd_2014.2.PubMed=19359048;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19359048" target="_blank">19359048</a>;ExAC.Info.AC=68231;ExAC.Info.AN=126700;ExAC.Info.AF=0.539;ExAC.Info.AC_Het=30192;ExAC.Info.AC_Hom=19006;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln221Arg/c.662A>G;snpeff.Amino_Acid_length=421;snpeff.Gene_Name=CASP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP9" target="_blank">CASP9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000546424;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333868;SAVANT_GENE=CASP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP9" target="_blank">CASP9</a>;SAVANT_INFO=-/32.0kb/9/2.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.662A>G_p.Gln221Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASP9+c.662A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15832543">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,361,4133:127	0|0:132,0:132:99:0,396,4494:127	0|1:52,47:99:99:1324,0,1404:127
1	15833506	.	C	T	1638.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2308950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2308950" target="_blank">rs2308950</a>;ExAC.Info.AC=1361;ExAC.Info.AN=126704;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1335;ExAC.Info.AC_Hom=13;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg173His/c.518G>A;snpeff.Amino_Acid_length=421;snpeff.Gene_Name=CASP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP9" target="_blank">CASP9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000546424;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333868;SAVANT_GENE=CASP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP9" target="_blank">CASP9</a>;SAVANT_INFO=-/32.0kb/9/2.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.518G>A_p.Arg173His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASP9+c.518G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15833506">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2187:127	0|0:105,0:105:99:0,315,3351:127	0|1:43,32:75:99:838,0,1135:127
1	15834360	.	A	G	1506.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2020902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2020902" target="_blank">rs2020902</a>;ExAC.Info.AC=15515;ExAC.Info.AN=126704;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=13330;ExAC.Info.AC_Hom=1090;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.453+8T>C;snpeff.Amino_Acid_length=421;snpeff.Gene_Name=CASP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP9" target="_blank">CASP9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000546424;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454T>C;snpeff.Amino_Acid_length=421;snpeff.Gene_Name=CASP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP9" target="_blank">CASP9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000546424;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333868;SAVANT_GENE=CASP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP9" target="_blank">CASP9</a>;SAVANT_INFO=-/32.0kb/9/2.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.453+8T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASP9+c.453+8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15834360">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,1970:127	0|0:59,0:59:99:0,177,2089:127	0|1:21,25:46:99:772,0,620:127
1	15834491	.	G	A	2034.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4646032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4646032" target="_blank">rs4646032</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.419-89C>T;snpeff.Amino_Acid_length=421;snpeff.Gene_Name=CASP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP9" target="_blank">CASP9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000546424;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333868;SAVANT_GENE=CASP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP9" target="_blank">CASP9</a>;SAVANT_INFO=-/32.0kb/9/2.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.419-89C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASP9+c.419-89C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15834491">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2578:127	0|0:83,0:83:99:0,249,2954:127	0|1:29,36:65:99:1036,0,694:127
1	15844926	.	C	T	568.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1820205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1820205" target="_blank">rs1820205</a>;ExAC.Info.AC=67777;ExAC.Info.AN=126510;ExAC.Info.AF=0.536;ExAC.Info.AC_Het=29156;ExAC.Info.AC_Hom=18116;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133-36G>A;snpeff.Amino_Acid_length=421;snpeff.Gene_Name=CASP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP9" target="_blank">CASP9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000546424;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333868;SAVANT_GENE=CASP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP9" target="_blank">CASP9</a>;SAVANT_INFO=-/32.0kb/9/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.133-36G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASP9+c.133-36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15844926">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1265:113	0|0:46,0:46:99:0,138,1633:113	0|1:11,9:20:99:303,0,365:113
1	15860803	.	C	T	4944.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=556;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11583306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11583306" target="_blank">rs11583306</a>;ExAC.Info.AC=28195;ExAC.Info.AN=126704;ExAC.Info.AF=0.223;ExAC.Info.AC_Het=20842;ExAC.Info.AC_Hom=3667;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234+5C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:J];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:J];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:J];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375847;SAVANT_GENE=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;SAVANT_INFO=+/44.9kb/15/6.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.234+5C>T;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC16+c.234+5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15860803">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,0:149:99:0,447,5129:127	0|0:206,2:208:99:0,592,6834:127	0|1:109,90:199:99:2491,0,2993:127
1	15892415	.	A	C	6196.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=404;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2236215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236215" target="_blank">rs2236215</a>;ExAC.Info.AC=32348;ExAC.Info.AN=126704;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=22168;ExAC.Info.AC_Hom=5086;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.37T>G;snpeff.Gene_Name=RP4-680D5.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606186;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Agg/Cgg;snpeff.Amino_Acid_Change=p.Arg534Arg/c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600A>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-680D58" target="_blank">RP4-680D58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375847;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375847;SAVANT_GENE=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;SAVANT_INFO=+/44.9kb/15/6.1kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1600A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC16+c.1600A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15892415">View</a>	GT:AD:DP:GQ:PL:TP	0|0:129,0:129:99:0,388,4195:127	0|1:77,73:150:99:1975,0,2258:127	0|1:83,42:125:99:1143,0,2444:127
1	15904318	.	C	T	1014.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11544523;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11544523" target="_blank">rs11544523</a>;ExAC.Info.AC=28507;ExAC.Info.AN=126702;ExAC.Info.AF=0.225;ExAC.Info.AC_Het=21017;ExAC.Info.AC_Hom=3732;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser254Ser/c.762G>A;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375826;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375826;SAVANT_GENE=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGMAT" target="_blank">AGMAT</a>;SAVANT_INFO=-/12.8kb/7/2.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.762G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGMAT+c.762G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15904318">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1211:110	0|0:79,0:79:99:0,237,2597:110	0|1:17,22:39:99:526,0,428:110
1	15905501	.	G	A	1986.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41270261;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270261" target="_blank">rs41270261</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15490;ExAC.Info.AN=126702;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=13302;ExAC.Info.AC_Hom=1075;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr191Thr/c.573C>T;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375826;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375826;SAVANT_GENE=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGMAT" target="_blank">AGMAT</a>;SAVANT_INFO=-/12.8kb/7/2.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.573C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGMAT+c.573C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15905501">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2104:127	0|0:67,1:68:99:0,199,2598:127	0|1:53,38:91:99:1012,0,1783:127
1	15909624	.	TGAGTACAG	T	1486.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs111921608;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111921608" target="_blank">rs111921608</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.475+56_475+63delCTGTACTC;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000375826;SAVANT_GENE=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGMAT" target="_blank">AGMAT</a>;SAVANT_INFO=-/12.8kb/7/2.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.475+56_475+63del8;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGMAT+c.475+56_475+63del8+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15909624">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,2617:78	0|1:13,14:27:99:549,0,1288:78	0|1:11,6:17:99:219,0,1062:78
1	15909744	.	C	T	2442.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11580170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11580170" target="_blank">rs11580170</a>;ExAC.Info.AC=31779;ExAC.Info.AN=126704;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=22266;ExAC.Info.AC_Hom=4734;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg140Gln/c.419G>A;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375826;SAVANT_GENE=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGMAT" target="_blank">AGMAT</a>;SAVANT_INFO=-/12.8kb/7/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.419G>A_p.Arg140Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGMAT+c.419G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15909744">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1235:101	0|1:17,24:41:99:649,0,468:101	0|1:13,19:32:99:592,0,343:101
1	15909850	.	C	G	2248.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6429757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6429757" target="_blank">rs6429757</a>;ExAC.Info.AC=71929;ExAC.Info.AN=126696;ExAC.Info.AF=0.568;ExAC.Info.AC_Het=29117;ExAC.Info.AC_Hom=21243;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Cgg;snpeff.Amino_Acid_Change=p.Gly105Arg/c.313G>C;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375826;SAVANT_GENE=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGMAT" target="_blank">AGMAT</a>;SAVANT_INFO=-/12.8kb/7/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.313G>C_p.Gly105Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGMAT+c.313G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15909850">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,988:99	0|1:15,16:31:99:497,0,472:99	0|1:23,23:46:99:647,0,680:99
1	15911131	.	G	A	2944.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs59475085;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59475085" target="_blank">rs59475085</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DNAJC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.272+60C>T;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC16" target="_blank">DNAJC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375826;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375826;SAVANT_GENE=AGMAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGMAT" target="_blank">AGMAT</a>;SAVANT_INFO=-/12.8kb/7/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.272+60C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGMAT+c.272+60C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15911131">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1856:127	0|1:44,34:78:99:875,0,1297:127	0|1:27,24:51:99:617,0,805:127
1	15944384	.	G	A	620.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs75354298;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75354298" target="_blank">rs75354298</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.138+81G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=DDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDI2" target="_blank">DDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000480945;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ubiquitin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.139G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=DDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDI2" target="_blank">DDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000480945;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ubiquitin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.139G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=DDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDI2" target="_blank">DDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000480945;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000480945;SAVANT_GENE=DDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDI2" target="_blank">DDI2</a>;SAVANT_INFO=+/51.5kb/10/10.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.138+81G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDI2+c.138+81G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15944384">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2534:127	0|0:72,0:72:99:0,216,2637:127	0|1:32,14:46:99:329,0,1036:127
1	15956769	.	G	T	3002.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72647120;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72647120" target="_blank">rs72647120</a>;ExAC.Info.AC=33306;ExAC.Info.AN=126650;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=22859;ExAC.Info.AC_Hom=4964;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.269-51G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=DDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDI2" target="_blank">DDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000480945;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000480945;SAVANT_GENE=DDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDI2" target="_blank">DDI2</a>;SAVANT_INFO=+/51.5kb/10/10.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.269-51G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDI2+c.269-51G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15956769">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2479:127	0|0:85,0:85:99:0,255,3120:127	0|1:35,50:85:99:1520,0,1039:127
1	15959977	.	C	T	2232.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=398;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3795763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795763" target="_blank">rs3795763</a>;ExAC.Info.AC=33488;ExAC.Info.AN=126702;ExAC.Info.AF=0.264;ExAC.Info.AC_Het=23306;ExAC.Info.AC_Hom=5084;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala183Ala/c.549C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=DDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDI2" target="_blank">DDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000480945;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000480945;SAVANT_GENE=DDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDI2" target="_blank">DDI2</a>;SAVANT_INFO=+/51.5kb/10/10.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.549C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDI2+c.549C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15959977">View</a>	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,370,4237:127	0|0:173,0:173:99:0,519,5957:127	0|1:54,48:102:99:1135,0,1589:127
1	15986547	.	T	C	2580.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3766163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766163" target="_blank">rs3766163</a>;ExAC.Info.AC=33464;ExAC.Info.AN=126680;ExAC.Info.AF=0.264;ExAC.Info.AC_Het=23292;ExAC.Info.AC_Hom=5078;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3419;snpeff.Amino_Acid_Change=c.*262T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=DDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDI2" target="_blank">DDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000480945;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe62Leu/c.184T>C;snpeff.Amino_Acid_length=617;snpeff.Gene_Name=RSC1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDI2" target="_blank">DDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345034;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345034:ENST00000480945;SAVANT_GENE=RSC1A1:DDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSC1A1:DDI2" target="_blank">RSC1A1:DDI2</a>;SAVANT_INFO=+/1.9kb/1/1.9kb:+/51.5kb/10/10.6kb;SAVANT_LOC=Ex1:3UTR;SAVANT_HGVS=c.184T>C_p.Phe62Leu:c.*3419T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RSC1A1:DDI2+c.184T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:15986547">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,0:149:99:0,447,5126:127	0|0:131,0:131:99:0,394,4754:127	0|1:56,43:99:99:1309,0,1764:127
1	16058489	.	C	T	3273.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72647153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72647153" target="_blank">rs72647153</a>;ExAC.Info.AC=50;ExAC.Info.AN=124672;ExAC.Info.AF=4.011e-04;ExAC.Info.AC_Het=50;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.211+393G>A;snpeff.Gene_Name=RP11-288I21.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-288I211" target="_blank">RP11-288I211</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2571C>T;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=PLEKHM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-288I211" target="_blank">RP11-288I211</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375799;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2571C>T;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=PLEKHM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-288I211" target="_blank">RP11-288I211</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375799;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2571C>T;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=PLEKHM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-288I211" target="_blank">RP11-288I211</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375799;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_sifA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2571C>T;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=PLEKHM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-288I211" target="_blank">RP11-288I211</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375799;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_sifA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2571C>T;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=PLEKHM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-288I211" target="_blank">RP11-288I211</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375799;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_sifA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2571C>T;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=PLEKHM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-288I211" target="_blank">RP11-288I211</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375799;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_sifA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2571C>T;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=PLEKHM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-288I211" target="_blank">RP11-288I211</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375799;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser857Ser/c.2571C>T;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=PLEKHM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-288I211" target="_blank">RP11-288I211</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375799;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375799;SAVANT_GENE=PLEKHM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHM2" target="_blank">PLEKHM2</a>;SAVANT_INFO=+/50.4kb/20/4.1kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2571C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHM2+c.2571C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16058489">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,27:67:99:717,0,1160:127	0|0:80,0:80:99:0,240,2858:127	1|0:35,20:55:99:522,0,1019:127
1	16133987	.	T	C	6702.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=310;MQ=69.60;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7417535;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7417535" target="_blank">rs7417535</a>;ExAC.Info.AC=15626;ExAC.Info.AN=126704;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=12859;ExAC.Info.AC_Hom=1383;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.208A>G;snpeff.Gene_Name=RP11-169K16.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-169K167" target="_blank">RP11-169K167</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538385;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-169K167" target="_blank">RP11-169K167</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-169K167+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16133987">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,48:94:99:1454,0,1164:127	0|0:124,0:124:99:0,372,4159:127	1|0:51,41:92:99:1295,0,1453:127
1	16134072	.	C	T	7306.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=327;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61744357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61744357" target="_blank">rs61744357</a>;ExAC.Info.AC=15606;ExAC.Info.AN=126704;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=12856;ExAC.Info.AC_Hom=1375;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.123G>A;snpeff.Gene_Name=RP11-169K16.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-169K167" target="_blank">RP11-169K167</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538385;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-169K167" target="_blank">RP11-169K167</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-169K167+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16134072">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,61:111:99:1685,0,1441:127	0|0:126,0:126:99:0,379,4451:127	1|0:43,47:90:99:1390,0,1247:127
1	16255007	.	C	T	5056.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=A;dbSNP139.ID=rs72649638;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72649638" target="_blank">rs72649638</a>;ExAC.Info.AC=1;ExAC.Info.AN=126702;ExAC.Info.AF=7.893e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2272C>T;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2272C>T;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cga/Tga;snpeff.Amino_Acid_Change=p.Arg758*/c.2272C>T;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;LOF=(SPEN|ENSG00000065526|1|1.00);NMD=(SPEN|ENSG00000065526|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000375759;SAVANT_GENE=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;SAVANT_INFO=+/92.6kb/15/12.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2272C>T_p.Arg758X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPEN+c.2272C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16255007">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,316,3718:127	0|1:72,81:153:99:2547,0,2015:127	0|0:113,0:113:99:0,339,3899:127
1	16256007	.	T	C	28849.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs848209;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=848209" target="_blank">rs848209</a>;ExAC.Info.AC=77607;ExAC.Info.AN=126684;ExAC.Info.AF=0.613;ExAC.Info.AC_Het=27650;ExAC.Info.AC_Hom=24775;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTa/cCa;snpeff.Amino_Acid_Change=p.Leu1091Pro/c.3272T>C;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375759;SAVANT_GENE=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;SAVANT_INFO=+/92.6kb/15/12.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.3272T>C_p.Leu1091Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPEN+c.3272T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16256007">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:4159,331,0:127	1|1:0,157:157:99:5724,472,0:127	1|0:80,60:140:99:1769,0,2432:127
1	16259813	.	A	G	18047.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs848210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=848210" target="_blank">rs848210</a>;ExAC.Info.AC=77624;ExAC.Info.AN=126698;ExAC.Info.AF=0.613;ExAC.Info.AC_Het=27678;ExAC.Info.AC_Hom=24809;snpeff.Effect=sequence_feature[domain:RID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7078A>G;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MSX2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7078A>G;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn2360Asp/c.7078A>G;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375759;SAVANT_GENE=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;SAVANT_INFO=+/92.6kb/15/12.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.7078A>G_p.Asn2360Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPEN+c.7078A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16259813">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2930,249,0:127	1|1:0,89:89:99:3034,267,0:127	1|0:38,33:71:99:956,0,1123:127
1	16261814	.	C	A	6768.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=627;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41269151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41269151" target="_blank">rs41269151</a>;ExAC.Info.AC=2453;ExAC.Info.AN=126704;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2362;ExAC.Info.AC_Hom=45;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cga/Aga;snpeff.Amino_Acid_Change=p.Arg3027Arg/c.9079C>A;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375759;SAVANT_GENE=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;SAVANT_INFO=+/92.6kb/15/12.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.9079C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPEN+c.9079C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16261814">View</a>	GT:AD:DP:GQ:PL:TP	0|0:195,0:195:99:0,586,6401:127	0|1:126,124:250:99:3403,0,3414:127	0|0:182,0:182:99:0,547,5935:127
1	16265403	.	A	G	9367.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs115404746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115404746" target="_blank">rs115404746</a>;ExAC.Info.AC=170;ExAC.Info.AN=126680;ExAC.Info.AF=1.342e-03;ExAC.Info.AC_Het=165;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10863+32A>G;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SPOC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10864A>G;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SPOC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10864A>G;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SPOC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10864A>G;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SPOC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10864A>G;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375759;SAVANT_GENE=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;SAVANT_INFO=+/92.6kb/15/12.2kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.10863+32A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPEN+c.10863+32A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16265403">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,47:111:99:1307,0,1602:127	1|0:64,74:138:99:2278,0,1611:127	0|0:121,0:121:99:0,364,4098:127
1	16265904	.	T	A	7528.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41269155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41269155" target="_blank">rs41269155</a>;ExAC.Info.AC=8261;ExAC.Info.AN=126698;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=7571;ExAC.Info.AC_Hom=340;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10977T>A;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SPOC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10977T>A;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SPOC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10977T>A;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SPOC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10977T>A;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SPOC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10977T>A;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atA;snpeff.Amino_Acid_Change=p.Ile3659Ile/c.10977T>A;snpeff.Amino_Acid_length=3664;snpeff.Gene_Name=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375759;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375759;SAVANT_GENE=SPEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPEN" target="_blank">SPEN</a>;SAVANT_INFO=+/92.6kb/15/12.2kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.10977T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPEN+c.10977T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16265904">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,48:87:99:1301,0,951:127	0|0:138,0:138:99:0,415,4655:127	1|0:57,50:107:99:1423,0,1715:127
1	16269737	.	C	T	7201.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4661672;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4661672" target="_blank">rs4661672</a>;ExAC.Info.AC=8725;ExAC.Info.AN=126682;ExAC.Info.AF=0.069;ExAC.Info.AC_Het=7951;ExAC.Info.AC_Hom=377;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1698-48G>A;snpeff.Amino_Acid_length=810;snpeff.Gene_Name=ZBTB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB17" target="_blank">ZBTB17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375733;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1698C>T;snpeff.Amino_Acid_length=810;snpeff.Gene_Name=ZBTB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB17" target="_blank">ZBTB17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375733;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1698C>T;snpeff.Amino_Acid_length=810;snpeff.Gene_Name=ZBTB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB17" target="_blank">ZBTB17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375733;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375743;SAVANT_GENE=ZBTB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB17" target="_blank">ZBTB17</a>;SAVANT_INFO=-/34.3kb/16/2.7kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1698-48G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB17+c.1698-48G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16269737">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,49:107:99:1265,0,1794:127	0|0:150,0:150:99:0,450,5177:127	1|0:46,50:96:99:1345,0,1300:127
1	16271156	.	C	A	3262.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12134932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12134932" target="_blank">rs12134932</a>;ExAC.Info.AC=8674;ExAC.Info.AN=126190;ExAC.Info.AF=0.069;ExAC.Info.AC_Het=7597;ExAC.Info.AC_Hom=396;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1070+36G>T;snpeff.Amino_Acid_length=810;snpeff.Gene_Name=ZBTB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB17" target="_blank">ZBTB17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375743;SAVANT_GENE=ZBTB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB17" target="_blank">ZBTB17</a>;SAVANT_INFO=-/34.3kb/16/2.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1070+36G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB17+c.1070+36G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16271156">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,12:31:99:311,0,486:70	1|0:24,29:53:99:912,0,768:70	0|0:35,1:36:70:0,70,1341:70
1	16271260	.	G	A	2556.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs9661939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9661939" target="_blank">rs9661939</a>;ExAC.Info.AC=35327;ExAC.Info.AN=126378;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=23483;ExAC.Info.AC_Hom=5501;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002G>A;snpeff.Amino_Acid_length=810;snpeff.Gene_Name=ZBTB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB17" target="_blank">ZBTB17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe334Phe/c.1002C>T;snpeff.Amino_Acid_length=810;snpeff.Gene_Name=ZBTB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB17" target="_blank">ZBTB17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375743;SAVANT_GENE=ZBTB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB17" target="_blank">ZBTB17</a>;SAVANT_INFO=-/34.3kb/16/2.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1002C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB17+c.1002C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16271260">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2381:127	0|1:60,49:109:99:1297,0,1742:127	0|0:73,0:73:99:0,219,2715:127
1	16272250	.	A	G	4756.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs848217;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=848217" target="_blank">rs848217</a>;ExAC.Info.AC=65075;ExAC.Info.AN=126144;ExAC.Info.AF=0.516;ExAC.Info.AC_Het=29404;ExAC.Info.AC_Hom=17110;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala207Ala/c.621T>C;snpeff.Amino_Acid_length=810;snpeff.Gene_Name=ZBTB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB17" target="_blank">ZBTB17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375733;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375743;SAVANT_GENE=ZBTB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB17" target="_blank">ZBTB17</a>;SAVANT_INFO=-/34.3kb/16/2.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.621T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB17+c.621T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16272250">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,32:63:99:902,0,939:113	1|1:0,39:39:99:1387,117,0:113	0|0:39,0:39:99:0,117,1322:113
1	16342237	.	A	G	7114.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1739840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1739840" target="_blank">rs1739840</a>;ExAC.Info.AC=74111;ExAC.Info.AN=126414;ExAC.Info.AF=0.586;ExAC.Info.AC_Het=28431;ExAC.Info.AC_Hom=21772;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr192Thr/c.576T>C;snpeff.Amino_Acid_length=245;snpeff.Gene_Name=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375718;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311890;SAVANT_GENE=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;SAVANT_INFO=-/4.8kb/3/2.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.351T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPB7+c.351T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16342237">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,22:43:99:698,0,620:127	0|0:85,0:85:99:0,255,2980:127	1|1:0,65:65:99:2146,195,0:127
1	16344360	.	A	G	8601.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs732286;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=732286" target="_blank">rs732286</a>;ExAC.Info.AC=74165;ExAC.Info.AN=126562;ExAC.Info.AF=0.586;ExAC.Info.AC_Het=29218;ExAC.Info.AC_Hom=21902;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.337-13T>C;snpeff.Amino_Acid_length=245;snpeff.Gene_Name=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375718;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311890;SAVANT_GENE=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;SAVANT_INFO=-/4.8kb/3/2.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.99T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPB7+c.99T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16344360">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,37:63:99:1153,0,715:127	0|0:90,0:90:99:0,270,3107:127	1|1:0,77:77:99:2635,231,0:127
1	16344402	.	G	A	8623.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs945416;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=945416" target="_blank">rs945416</a>;ExAC.Info.AC=74306;ExAC.Info.AN=126620;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=29350;ExAC.Info.AC_Hom=22123;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.337-55C>T;snpeff.Amino_Acid_length=245;snpeff.Gene_Name=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375718;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311890;SAVANT_GENE=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;SAVANT_INFO=-/4.8kb/3/2.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.57C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPB7+c.57C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16344402">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,38:65:99:1185,0,792:127	0|0:85,0:85:99:0,256,3254:127	1|1:0,78:78:99:2744,234,0:127
1	16344494	.	G	A	5655.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1572381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1572381" target="_blank">rs1572381</a>;ExAC.Info.AC=72993;ExAC.Info.AN=125300;ExAC.Info.AF=0.583;ExAC.Info.AC_Het=27662;ExAC.Info.AC_Hom=20898;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.337-147C>T;snpeff.Amino_Acid_length=245;snpeff.Gene_Name=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375718;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311890;SAVANT_GENE=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;SAVANT_INFO=-/4.8kb/3/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-36C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPB7+c.-36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16344494">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,36:65:99:986,0,816:125	0|0:59,0:59:99:0,177,2167:125	1|1:0,42:42:99:1493,126,0:125
1	16344625	.	C	G	3713.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs945417;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=945417" target="_blank">rs945417</a>;ExAC.Info.AC=39434;ExAC.Info.AN=80142;ExAC.Info.AF=0.492;ExAC.Info.AC_Het=4349;ExAC.Info.AC_Hom=3030;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.337-278G>C;snpeff.Amino_Acid_length=245;snpeff.Gene_Name=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375718;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311890;SAVANT_GENE=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;SAVANT_INFO=-/4.8kb/3/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-167G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPB7+c.-167G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16344625">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,20:44:99:600,0,688:89	0|0:53,0:53:99:0,159,1826:89	1|1:0,30:30:90:1044,90,0:89
1	16344664	.	G	A	426.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs872222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=872222" target="_blank">rs872222</a>;ExAC.Info.AC=12447;ExAC.Info.AN=44336;ExAC.Info.AF=0.281;ExAC.Info.AC_Het=3633;ExAC.Info.AC_Hom=1249;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.337-317C>T;snpeff.Amino_Acid_length=245;snpeff.Gene_Name=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375718;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311890;SAVANT_GENE=HSPB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPB7" target="_blank">HSPB7</a>;SAVANT_INFO=-/4.8kb/3/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-206C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPB7+c.-206C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16344664">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,672:56	0|0:31,0:31:93:0,93,1206:56	0|1:11,10:21:99:232,0,392:56
1	16350262	.	A	G	4561.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs1537803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1537803" target="_blank">rs1537803</a>;ExAC.Info.AC=9945;ExAC.Info.AN=126686;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=8919;ExAC.Info.AC_Hom=483;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.101-33A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.101-33A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.101-33A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16350262">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,36:55:99:1128,0,562:127	0|0:74,0:74:99:0,222,2706:127	1|0:22,20:42:99:556,0,669:127
1	16352937	.	G	A	923.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=69.94;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs1010069;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1010069" target="_blank">rs1010069</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.499-94G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.499-94G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.499-94G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16352937">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1828:127	0|0:55,0:55:99:0,165,1970:127	0|1:31,17:48:99:481,0,906:127
1	16354590	.	A	T	14332.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=792;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12126269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12126269" target="_blank">rs12126269</a>;ExAC.Info.AC=26405;ExAC.Info.AN=126704;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=20328;ExAC.Info.AC_Hom=3022;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAc/tTc;snpeff.Amino_Acid_Change=p.Tyr315Phe/c.944A>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.944A>T_p.Tyr315Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.944A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16354590">View</a>	GT:AD:DP:GQ:PL:TP	1|0:133,112:245:99:2677,0,3318:127	0|0:319,3:322:99:0,880,10277:127	1|0:123,102:225:99:2614,0,3087:127
1	16356187	.	C	T	4606.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs1972359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1972359" target="_blank">rs1972359</a>;ExAC.Info.AC=9980;ExAC.Info.AN=126700;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=8959;ExAC.Info.AC_Hom=502;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1228-39C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1228C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1228C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1228-39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1228-39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16356187">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,27:65:99:786,0,1314:127	0|0:95,0:95:99:0,286,3568:127	1|0:43,31:74:99:844,0,1403:127
1	16356497	.	C	G	5569.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs7411607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7411607" target="_blank">rs7411607</a>;ExAC.Info.AC=9926;ExAC.Info.AN=126624;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8848;ExAC.Info.AC_Hom=484;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcG;snpeff.Amino_Acid_Change=p.Ala445Ala/c.1335C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1335C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1335C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16356497">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,26:45:99:883,0,828:127	0|0:43,0:43:99:0,129,2072:127	1|0:36,25:61:99:977,0,1326:127
1	16356501	.	G	A	8874.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1805152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805152" target="_blank">rs1805152</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Increased_blood_pressure_after_Na-load|_association_with;hgmd_2014.2.OMIM_ID=602024;hgmd_2014.2.PubMed=17510212;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17510212" target="_blank">17510212</a>;ExAC.Info.AC=70884;ExAC.Info.AN=126566;ExAC.Info.AF=0.560;ExAC.Info.AC_Het=29596;ExAC.Info.AC_Hom=20381;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala447Thr/c.1339G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1339G>A_p.Ala447Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1339G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16356501">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,26:44:99:1038,0,443:110	0|0:37,0:37:99:0,111,1210:110	1|1:0,61:61:99:2362,183,0:110
1	16356522	.	A	G	6275.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=146;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34471231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34471231" target="_blank">rs34471231</a>;ExAC.Info.AC=9864;ExAC.Info.AN=126622;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8852;ExAC.Info.AC_Hom=444;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1360A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1360A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr454Ala/c.1360A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1360A>G_p.Thr454Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1360A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16356522">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,25:44:99:1175,0,795:123	0|0:41,0:41:99:0,123,2016:123	1|0:34,27:61:99:1067,0,1407:123
1	16356531	.	G	A	5835.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=141;MQ=69.95;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35747151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35747151" target="_blank">rs35747151</a>;ExAC.Info.AC=9824;ExAC.Info.AN=126600;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8816;ExAC.Info.AC_Hom=420;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val457Ile/c.1369G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1369G>A_p.Val457Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1369G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16356531">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,27:45:99:1075,0,783:120	0|0:39,0:39:99:0,120,1971:120	1|0:32,25:57:99:992,0,1299:120
1	16356533	.	T	C	5670.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=142;MQ=69.95;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs35154011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35154011" target="_blank">rs35154011</a>;ExAC.Info.AC=9821;ExAC.Info.AN=126594;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8810;ExAC.Info.AC_Hom=420;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1371T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1371T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val457Val/c.1371T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1371T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1371T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16356533">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,27:46:99:1075,0,783:116	0|0:39,0:39:99:0,117,1926:116	1|0:33,24:57:99:950,0,1302:116
1	16357147	.	C	T	5163.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=156;MQ=64.64;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12140223;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12140223" target="_blank">rs12140223</a>;ExAC.Info.AC=9909;ExAC.Info.AN=126398;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8822;ExAC.Info.AC_Hom=478;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg534Trp/c.1600C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1600C>T_p.Arg534Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1600C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16357147">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,19:35:99:511,0,421:127	0|0:66,0:66:99:0,198,2236:127	1|0:22,33:55:99:926,0,678:127
1	16358134	.	T	C	5173.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs2015515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2015515" target="_blank">rs2015515</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1623-71T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1623-71T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1623-71T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16358134">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,30:80:99:712,0,2140:127	0|0:137,0:137:99:0,436,6911:127	1|0:57,41:98:99:1005,0,1842:127
1	16358148	.	T	C	16752.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs2015509;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2015509" target="_blank">rs2015509</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1623-57T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1623-57T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1623-57T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16358148">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,47:117:99:1636,0,2201:127	0|0:170,0:170:99:0,511,6358:127	1|1:0,126:126:99:4994,377,0:127
1	16358685	.	C	G	4172.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=509;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs6669935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6669935" target="_blank">rs6669935</a>;ExAC.Info.AC=75942;ExAC.Info.AN=125640;ExAC.Info.AF=0.604;ExAC.Info.AC_Het=27466;ExAC.Info.AC_Hom=23368;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1757-13C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1757-13C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1757-13C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16358685">View</a>	GT:AD:DP:GQ:PL:TP	0|0:164,0:164:99:0,493,5476:127	0|0:171,0:171:99:0,515,5999:127	0|1:99,75:174:99:2105,0,2842:127
1	16358932	.	T	C	9630.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs10803407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10803407" target="_blank">rs10803407</a>;ExAC.Info.AC=87068;ExAC.Info.AN=126504;ExAC.Info.AF=0.688;ExAC.Info.AC_Het=25714;ExAC.Info.AC_Hom=30293;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1846-6T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1846-6T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1846-6T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16358932">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,40:81:99:1060,0,1205:127	0|0:127,0:127:99:0,381,4225:127	1|1:0,76:76:99:2755,228,0:127
1	16359051	.	C	A	7658.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs10927892;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10927892" target="_blank">rs10927892</a>;ExAC.Info.AC=70764;ExAC.Info.AN=126164;ExAC.Info.AF=0.561;ExAC.Info.AC_Het=29308;ExAC.Info.AC_Hom=20237;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1929+30C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1929+30C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1929+30C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16359051">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,23:47:99:699,0,1574:127	0|0:76,0:76:99:0,228,3716:127	1|1:0,64:64:99:2269,192,0:127
1	16359052	.	A	G	13228.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs10927893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10927893" target="_blank">rs10927893</a>;ExAC.Info.AC=116271;ExAC.Info.AN=126122;ExAC.Info.AF=0.922;ExAC.Info.AC_Het=8712;ExAC.Info.AC_Hom=53014;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1929+31A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1929+31A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.1929+31A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16359052">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,23:46:99:891,0,778:127	0|1:27,48:75:99:1583,0,818:127	1|1:0,62:62:99:2836,196,0:127
1	16360053	.	CT	C	787.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=63;MQ=67.90;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs113049949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113049949" target="_blank">rs113049949</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2017-52delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017delT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2017-52delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.2017-52delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16360053">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,10:23:99:274,0,418:72	0|0:24,0:24:72:0,72,959:72	1|0:11,5:16:99:147,0,393:72
1	16360137	.	C	T	3419.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=161;MQ=60.21;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12746751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12746751" target="_blank">rs12746751</a>;ExAC.Info.AC=10168;ExAC.Info.AN=126658;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=9222;ExAC.Info.AC_Hom=397;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2048C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2048C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2048C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2048C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2048C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2048C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2048C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2048C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2048C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro683Leu/c.2048C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331433;SAVANT_GENE=CLCNKA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKA" target="_blank">CLCNKA</a>;SAVANT_INFO=+/12.0kb/20/2.5kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2048C>T_p.Pro683Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKA+c.2048C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16360137">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,26:57:99:673,0,770:127	0|0:61,0:61:99:0,183,2110:127	1|0:19,24:43:99:740,0,474:127
1	16361875	.	A	G	360.44	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=19;MQ=57.90;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11807054;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11807054" target="_blank">rs11807054</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.502T>C;snpeff.Gene_Name=RP11-5P18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-5P1810" target="_blank">RP11-5P1810</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447882;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-5P1810" target="_blank">RP11-5P1810</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-5P1810+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16361875">View</a>	GT:AD:DP:GQ:PL:TP	0|0:3,0:3:9:0,9,115:4	0|1:10,4:14:99:118,0,274:4	0|1:0,2:2:1:84,6,0:4
1	16361991	.	G	A	111.38	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=27;MQ=67.08;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs77041637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77041637" target="_blank">rs77041637</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.424-38C>T;snpeff.Gene_Name=RP11-5P18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-5P1810" target="_blank">RP11-5P1810</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447882;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-5P1810" target="_blank">RP11-5P1810</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-5P1810+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16361991">View</a>	GT:AD:DP:GQ:PL:TP	1|0:4,1:5:25:25,0,155:24	0|0:15,0:15:45:0,45,665:24	1|0:5,2:7:61:61,0,204:24
1	16362621	.	G	A	42093.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=492;MQ=68.69;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2009044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2009044" target="_blank">rs2009044</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.423+110C>T;snpeff.Gene_Name=RP11-5P18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-5P1810" target="_blank">RP11-5P1810</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447882;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-5P1810" target="_blank">RP11-5P1810</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-5P1810+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16362621">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,160:160:99:5327,480,0:127	1|1:0,212:212:99:7083,635,0:127	1|1:1,119:120:99:4283,324,0:127
1	16362661	.	A	C	4026.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=629;MQ=69.47;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3978493;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3978493" target="_blank">rs3978493</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.423+70T>G;snpeff.Gene_Name=RP11-5P18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-5P1810" target="_blank">RP11-5P1810</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447882;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-5P1810" target="_blank">RP11-5P1810</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-5P1810+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16362661">View</a>	GT:AD:DP:GQ:PL:TP	0|0:207,1:208:99:0,585,6735:127	0|0:250,0:250:99:0,751,8471:127	0|1:95,76:171:99:2032,0,2646:127
1	16363243	.	A	G	810.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=74;MQ=46.95;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs35030434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35030434" target="_blank">rs35030434</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.176T>C;snpeff.Gene_Name=RP11-5P18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-5P1810" target="_blank">RP11-5P1810</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447882;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-5P1810" target="_blank">RP11-5P1810</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-5P1810+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16363243">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,4:29:71:71,0,658:66	0|0:23,0:23:69:0,69,678:66	1|0:12,10:22:99:229,0,322:66
1	16370851	.	T	TACACACACACACAC	2194.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=82;MQ=70.43;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-7-129_-7-128insACACACACACACAC;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-128_-115dup14;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.-128_-115dup14+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16370851">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,8:28:99:161,0,774:127	0/1:20,12:32:99:365,0,642:127	0/1:7,15:22:99:414,0,152:127
1	16370873	.	C	CACACACACAT	587.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=134;MQ=70.25;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs146972886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146972886" target="_blank">rs146972886</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-7-107_-7-106insACACACACAT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-115_-114insACACACACAT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.-115_-114insACACACACAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16370873">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,121,1629:120	0|0:60,2:62:99:0,174,2417:120	0|1:23,9:32:99:317,0,824:120
1	16370899	.	G	A	710.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=146;MQ=70.24;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs945394;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=945394" target="_blank">rs945394</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-7-82G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-89G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.-89G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16370899">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1775:127	0|0:55,0:55:99:0,165,1882:127	0|1:27,15:42:99:374,0,748:127
1	16371067	.	G	T	1530.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2015352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2015352" target="_blank">rs2015352</a>;ExAC.Info.AC=75408;ExAC.Info.AN=125608;ExAC.Info.AF=0.600;ExAC.Info.AC_Het=23356;ExAC.Info.AC_Hom=19272;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80G>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80G>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cTc;snpeff.Amino_Acid_Change=p.Arg27Leu/c.80G>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.80G>T_p.Arg27Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.80G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16371067">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2198:127	0|0:86,1:87:99:0,220,3015:127	0|1:27,27:54:99:784,0,804:127
1	16372003	.	G	C	990.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs6604910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6604910" target="_blank">rs6604910</a>;ExAC.Info.AC=78852;ExAC.Info.AN=126634;ExAC.Info.AF=0.623;ExAC.Info.AC_Het=27390;ExAC.Info.AC_Hom=24804;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.101-50G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.101G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.101G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.101-50G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.101-50G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16372003">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1269:94	0|0:33,0:33:99:0,99,1296:94	0|1:20,16:36:99:514,0,591:94
1	16373124	.	A	G	5150.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=383;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs5257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5257" target="_blank">rs5257</a>;ExAC.Info.AC=101602;ExAC.Info.AN=126692;ExAC.Info.AF=0.802;ExAC.Info.AC_Het=17470;ExAC.Info.AC_Hom=42030;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser108Ser/c.324A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.324A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.324A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16373124">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,400,4643:127	0|1:94,55:149:99:1374,0,2692:127	0|1:54,47:101:99:1221,0,1558:127
1	16373199	.	CCTT	C	8178.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs35820664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35820664" target="_blank">rs35820664</a>;ExAC.Info.AC=98130;ExAC.Info.AN=126644;ExAC.Info.AF=0.775;ExAC.Info.AC_Het=19211;ExAC.Info.AC_Hom=39032;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.358+42_358+44delCTT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.358+44_358+46delTCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.358+44_358+46delTCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16373199">View</a>	GT:AD:DP:GQ:PL:TP	0|0:155,0:155:99:0,466,6930:127	0|1:83,68:151:99:2585,0,3266:127	0|1:64,41:105:99:1529,0,2523:127
1	16374533	.	G	C	13205.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs2014562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2014562" target="_blank">rs2014562</a>;ExAC.Info.AC=117743;ExAC.Info.AN=126692;ExAC.Info.AF=0.929;ExAC.Info.AC_Het=7839;ExAC.Info.AC_Hom=54779;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.492G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.492G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggC;snpeff.Amino_Acid_Change=p.Gly164Gly/c.492G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.492G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.492G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16374533">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,29:76:99:892,0,1418:127	0|1:38,57:95:99:1760,0,1133:127	1|1:0,82:82:99:3038,246,0:127
1	16374590	.	C	T	2651.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs2282263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282263" target="_blank">rs2282263</a>;ExAC.Info.AC=12496;ExAC.Info.AN=126446;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=10125;ExAC.Info.AC_Hom=724;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.498+51C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.498+51C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.498+51C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16374590">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,19:41:99:544,0,720:127	0|0:48,0:48:99:0,144,1846:127	1|0:28,20:48:99:556,0,878:127
1	16374994	.	C	T	610.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=52;MQ=66.47;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs1889788;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889788" target="_blank">rs1889788</a>;ExAC.Info.AC=101358;ExAC.Info.AN=126650;ExAC.Info.AF=0.800;ExAC.Info.AC_Het=17555;ExAC.Info.AC_Hom=41772;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.577-5C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.577-5C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.577-5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16374994">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,808:59	0|1:13,7:20:99:206,0,465:59	0|1:8,4:12:99:119,0,289:59
1	16375063	.	C	G	4930.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=79;MQ=69.24;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1889789;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889789" target="_blank">rs1889789</a>;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gGa;snpeff.Amino_Acid_Change=p.Ala214Gly/c.641C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.641C>G_p.Ala214Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.641C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16375063">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,9:28:99:307,0,813:54	0|1:16,18:34:99:765,0,591:54	1|1:0,17:17:54:754,54,0:54
1	16375064	.	A	C	4930.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=81;MQ=69.30;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs1889790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889790" target="_blank">rs1889790</a>;ExAC.Info.AC=114060;ExAC.Info.AN=126668;ExAC.Info.AF=0.900;ExAC.Info.AC_Het=9742;ExAC.Info.AC_Hom=51839;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642A>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642A>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcC;snpeff.Amino_Acid_Change=p.Ala214Ala/c.642A>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.642A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.642A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16375064">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,8:28:99:307,0,813:54	0|1:15,20:35:99:765,0,591:54	1|1:0,18:18:54:754,54,0:54
1	16375132	.	C	T	1255.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=60;MQ=69.82;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs12118326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12118326" target="_blank">rs12118326</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.655+55C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.655+55C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.655+55C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16375132">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,5:13:99:123,0,294:92	0|0:31,0:31:93:0,93,1039:92	1|0:6,10:16:99:307,0,172:92
1	16375510	.	G	A	2084.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=67;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11588392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11588392" target="_blank">rs11588392</a>;ExAC.Info.AC=6934;ExAC.Info.AN=126616;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=5965;ExAC.Info.AC_Hom=376;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.656-105G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.656-105G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.656-105G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16375510">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,13:24:99:380,0,278:60	1|0:13,10:23:99:280,0,410:60	0|0:20,0:20:60:0,60,665:60
1	16376230	.	A	AT	16795.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=293;MQ=69.86;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs59006537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59006537" target="_blank">rs59006537</a>;ExAC.Info.AC=110055;ExAC.Info.AN=124642;ExAC.Info.AF=0.883;ExAC.Info.AC_Het=9098;ExAC.Info.AC_Hom=45916;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.866+34_866+35insT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867_868insT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867_868insT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.866+33_866+34insT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.866+33_866+34insT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16376230">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,45:87:99:2051,0,1691:127	0|1:68,43:111:99:1685,0,2709:127	1|1:0,95:95:99:4483,301,0:127
1	16376232	.	A	T	17183.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=305;MQ=69.86;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs59924562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59924562" target="_blank">rs59924562</a>;ExAC.Info.AC=110076;ExAC.Info.AN=124642;ExAC.Info.AF=0.883;ExAC.Info.AC_Het=9130;ExAC.Info.AC_Hom=47263;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.866+35A>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.866+35A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.866+35A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16376232">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,52:96:99:2134,0,1711:127	0|1:67,45:112:99:1699,0,2850:127	1|1:0,97:97:99:4578,310,0:127
1	16376238	.	TC	T	17843.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=346;MQ=69.91;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs34589727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34589727" target="_blank">rs34589727</a>;ExAC.Info.AC=109348;ExAC.Info.AN=122702;ExAC.Info.AF=0.891;ExAC.Info.AC_Het=6978;ExAC.Info.AC_Hom=48672;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.866+42delC;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867delC;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867delC;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.866+47delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.866+47delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16376238">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,60:111:99:2258,0,1869:127	0|1:77,50:127:99:1802,0,2951:127	1|1:0,108:108:99:4728,328,0:127
1	16376278	.	G	A	22954.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=534;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs7365182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7365182" target="_blank">rs7365182</a>;ExAC.Info.AC=115396;ExAC.Info.AN=126696;ExAC.Info.AF=0.911;ExAC.Info.AC_Het=8613;ExAC.Info.AC_Hom=53341;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.867-32G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.867-32G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.867-32G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16376278">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,95:176:99:2862,0,2207:127	0|1:117,87:204:99:2617,0,3366:127	1|1:0,154:154:99:5756,463,0:127
1	16376319	.	T	C	34848.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=866;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs7368151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7368151" target="_blank">rs7368151</a>;ExAC.Info.AC=115495;ExAC.Info.AN=126698;ExAC.Info.AF=0.912;ExAC.Info.AC_Het=8583;ExAC.Info.AC_Hom=53433;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys292Cys/c.876T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.876T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.876T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16376319">View</a>	GT:AD:DP:GQ:PL:TP	1|0:133,155:288:99:4263,0,3522:127	0|1:179,154:333:99:4211,0,5011:127	1|1:0,245:245:99:8603,736,0:127
1	16376458	.	T	C	17958.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs7368166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7368166" target="_blank">rs7368166</a>;ExAC.Info.AC=114714;ExAC.Info.AN=126308;ExAC.Info.AF=0.908;ExAC.Info.AC_Het=8794;ExAC.Info.AC_Hom=52376;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.968+47T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.968+47T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.968+47T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16376458">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,44:93:99:1400,0,1355:127	0|1:57,78:135:99:2524,0,1643:127	1|1:0,100:100:99:3933,300,0:127
1	16376953	.	C	T	4049.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs10927895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10927895" target="_blank">rs10927895</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.969-58C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.969-58C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.969-58C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16376953">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,28:62:99:925,0,1047:127	0|0:62,0:62:99:0,186,2337:127	1|0:24,22:46:99:717,0,789:127
1	16377598	.	T	TG	2340.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs149762502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149762502" target="_blank">rs149762502</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1227+56_1227+57insG;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1228_1229insG;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1228_1229insG;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1227+61dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1227+61dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16377598">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,14:38:99:317,0,634:127	0|0:59,0:59:99:0,178,1851:127	1|0:26,17:43:99:392,0,681:127
1	16377935	.	A	G	6068.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs6650117;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6650117" target="_blank">rs6650117</a>;ExAC.Info.AC=15244;ExAC.Info.AN=126704;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=13006;ExAC.Info.AC_Hom=1115;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1228-38A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1228A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1228A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1228-38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1228-38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16377935">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,37:79:99:1036,0,1225:127	0|0:108,0:108:99:0,324,3694:127	1|0:34,39:73:99:1127,0,1001:127
1	16377999	.	C	T	13624.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=435;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs6650118;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6650118" target="_blank">rs6650118</a>;ExAC.Info.AC=12879;ExAC.Info.AN=126704;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=11180;ExAC.Info.AC_Hom=848;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr418Thr/c.1254C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1254C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1254C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16377999">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,57:139:99:2118,0,3549:127	0|0:161,0:161:99:0,497,8309:127	1|0:71,64:135:99:2471,0,3111:127
1	16378000	.	A	G	13624.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6650119;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6650119" target="_blank">rs6650119</a>;ExAC.Info.AC=12881;ExAC.Info.AN=126704;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=11181;ExAC.Info.AC_Hom=850;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1255A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1255A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile419Val/c.1255A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1255A>G_p.Ile419Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1255A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16378000">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,57:137:99:2118,0,3549:127	0|0:165,0:165:99:0,497,8309:127	1|0:72,64:136:99:2471,0,3111:127
1	16378093	.	A	G	8633.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs41269167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41269167" target="_blank">rs41269167</a>;ExAC.Info.AC=12835;ExAC.Info.AN=126702;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=11201;ExAC.Info.AC_Hom=804;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1297+51A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1298A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1298A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1297+51A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1297+51A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16378093">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,32:81:99:1204,0,2439:127	0|0:110,0:110:99:0,331,6095:127	1|0:53,47:100:99:1787,0,2731:127
1	16378099	.	G	C	8813.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs182734810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=182734810" target="_blank">rs182734810</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1297+57G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1298G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1298G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1297+57G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1297+57G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16378099">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,31:73:99:1260,0,2345:127	0|0:102,0:102:99:0,319,6018:127	1|0:48,46:94:99:1849,0,2643:127
1	16378100	.	C	A	8583.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1297+58C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1298C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1298C>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1297+58C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1297+58C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16378100">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,32:75:99:1224,0,2318:127	0|0:102,0:102:99:0,313,5950:127	1|0:46,45:91:99:1812,0,2612:127
1	16378215	.	C	T	4749.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs5252;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5252" target="_blank">rs5252</a>;ExAC.Info.AC=12871;ExAC.Info.AN=126692;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=11152;ExAC.Info.AC_Hom=850;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1308C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1308C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile436Ile/c.1308C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1308C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1308C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16378215">View</a>	GT:AD:DP:GQ:PL:TP	1|0:45,29:74:99:752,0,1372:127	0|0:104,0:104:99:0,313,3567:127	1|0:36,35:71:99:1077,0,1032:127
1	16378725	.	A	T	2557.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=95;MQ=69.76;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12140311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12140311" target="_blank">rs12140311</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Essential_hypertension|_association_with;hgmd_2014.2.OMIM_ID=602023;hgmd_2014.2.PubMed=15148291;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15148291" target="_blank">15148291</a>;ExAC.Info.AC=12749;ExAC.Info.AN=126472;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=10964;ExAC.Info.AC_Hom=823;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Tcc;snpeff.Amino_Acid_Change=p.Thr481Ser/c.1441A>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1441A>T_p.Thr481Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1441A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16378725">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,24:34:99:746,0,255:114	0|0:38,0:38:99:0,114,1378:114	1|0:9,14:23:99:392,0,261:114
1	16378931	.	A	G	6897.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=195;MQ=66.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs56334930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56334930" target="_blank">rs56334930</a>;ExAC.Info.AC=10844;ExAC.Info.AN=126456;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=9439;ExAC.Info.AC_Hom=388;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1622+25A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1622+25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1622+25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16378931">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,18:45:99:675,0,1558:127	0|0:78,0:78:99:0,241,4748:127	1|0:31,41:72:99:1588,0,1594:127
1	16378936	.	AG	A	6600.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=185;MQ=66.88;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs112905730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112905730" target="_blank">rs112905730</a>;ExAC.Info.AC=10464;ExAC.Info.AN=126430;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=9032;ExAC.Info.AC_Hom=321;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1622+31delG;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1622+35delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1622+35delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16378936">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,18:44:99:678,0,1519:127	0|0:76,0:76:99:0,235,4713:127	1|0:30,35:65:99:1502,0,1621:127
1	16378938	.	G	A	6290.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=183;MQ=66.95;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);ExAC.Info.AC=10462;ExAC.Info.AN=126430;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=9006;ExAC.Info.AC_Hom=291;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1622+32G>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1622+32G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1622+32G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16378938">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,18:44:99:678,0,1519:127	0|0:74,0:74:99:0,232,4669:127	1|0:30,35:65:99:1379,0,1598:127
1	16380196	.	T	C	56958.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=753;MQ=65.42;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs5253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5253" target="_blank">rs5253</a>;ExAC.Info.AC=117893;ExAC.Info.AN=126648;ExAC.Info.AF=0.931;ExAC.Info.AC_Het=7106;ExAC.Info.AC_Hom=55109;snpeff.Effect=sequence_feature[domain:CBS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1685T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1685T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met562Thr/c.1685T>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1685T>C_p.Met562Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1685T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16380196">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,229:229:99:7445,688,0:127	1|1:0,303:303:99:10144,910,0:127	1|1:0,221:221:99:7412,664,0:127
1	16380243	.	A	G	49425.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=508;MQ=60.29;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275166" target="_blank">rs2275166</a>;ExAC.Info.AC=83601;ExAC.Info.AN=126636;ExAC.Info.AF=0.660;ExAC.Info.AC_Het=27380;ExAC.Info.AC_Hom=27670;snpeff.Effect=sequence_feature[domain:CBS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys578Glu/c.1732A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1732A>G_p.Lys578Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1732A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16380243">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,143:143:99:6234,433,0:127	1|1:0,216:216:99:9239,653,0:127	1|1:0,149:149:99:6624,463,0:127
1	16380252	.	C	T	45743.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=448;MQ=61.02;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs2275167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275167" target="_blank">rs2275167</a>;ExAC.Info.AC=78899;ExAC.Info.AN=126636;ExAC.Info.AF=0.623;ExAC.Info.AC_Het=28650;ExAC.Info.AC_Hom=24708;snpeff.Effect=sequence_feature[domain:CBS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1741C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1741C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu581Leu/c.1741C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1741C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1741C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16380252">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:5763,391,0:127	1|1:0,180:180:99:8357,575,0:127	1|1:0,142:142:99:6337,433,0:127
1	16381816	.	C	T	2994.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs12029508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12029508" target="_blank">rs12029508</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1757-114C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1757C>T;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1757-114C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1757-114C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16381816">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,304,6023:127	0|0:98,0:98:99:0,298,6120:127	0|1:54,44:98:99:1516,0,2964:127
1	16382827	.	CTCT	C	5997.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=669;MQ=69.97;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs77508204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77508204" target="_blank">rs77508204</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1930-89_1930-87delTCT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930_1932delTCT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930_1932delTCT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930_1932delTCT;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1930-87_1930-85delTTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1930-87_1930-85delTTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16382827">View</a>	GT:AD:DP:GQ:PL:TP	0|0:254,0:254:99:0,789,11758:127	0|0:247,0:247:99:0,767,11404:127	0|1:94,74:168:99:3022,0,3867:127
1	16382831	.	T	A	6166.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=677;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs61769890;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61769890" target="_blank">rs61769890</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1930-86T>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930T>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930T>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930T>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1930-86T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1930-86T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16382831">View</a>	GT:AD:DP:GQ:PL:TP	0|0:254,0:254:99:0,807,11956:127	0|0:247,0:247:99:0,777,11525:127	0|1:97,79:176:99:3102,0,3871:127
1	16382834	.	T	A	6238.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=695;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs61769891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61769891" target="_blank">rs61769891</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1930-83T>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930T>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930T>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930T>A;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1930-83T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1930-83T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16382834">View</a>	GT:AD:DP:GQ:PL:TP	0|0:261,0:261:99:0,800,11825:127	0|0:254,0:254:99:0,782,11526:127	0|1:98,82:180:99:3138,0,3923:127
1	16382877	.	A	G	6798.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1103;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs7517792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7517792" target="_blank">rs7517792</a>;ExAC.Info.AC=100203;ExAC.Info.AN=126670;ExAC.Info.AF=0.791;ExAC.Info.AC_Het=20394;ExAC.Info.AC_Hom=39819;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1930-40A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1930-40A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.1930-40A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16382877">View</a>	GT:AD:DP:GQ:PL:TP	0|0:396,0:396:99:0,1191,12365:127	0|0:396,1:397:99:0,1180,13028:127	0|1:178,132:310:99:3418,0,4998:127
1	16383329	.	T	TC	391.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=85;MQ=67.95;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs138507185;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138507185" target="_blank">rs138507185</a>;ExAC.Info.AC=69308;ExAC.Info.AN=116338;ExAC.Info.AF=0.596;ExAC.Info.AC_Het=12882;ExAC.Info.AC_Hom=8745;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2017-34_2017-33insC;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017_2018insC;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017_2018insC;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017_2018insC;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2017-29dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.2017-29dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16383329">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:90:0,90,1510:89	0|0:41,0:41:99:0,129,2415:89	0|1:11,6:17:99:219,0,535:89
1	16383336	.	G	C	394.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=97;MQ=67.63;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs12746138;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12746138" target="_blank">rs12746138</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2017-28G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CBS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2017G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2017-28G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.2017-28G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16383336">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1581:95	0|0:47,0:47:99:0,142,2557:95	0|1:12,6:18:99:216,0,570:95
1	16383668	.	T	G	13678.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=165;MQ=60.03;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbSNP139.ID=rs6660218;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6660218" target="_blank">rs6660218</a>;ExAC.Info.AC=22633;ExAC.Info.AN=22660;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=8450;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=257;snpeff.Amino_Acid_Change=c.*257T>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*257T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.*257T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16383668">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1451,129,0:127	1|1:0,65:65:99:2197,195,0:127	1|1:0,57:57:99:2133,171,0:127
1	16383682	.	G	C	372.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=209;MQ=62.66;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1057854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057854" target="_blank">rs1057854</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Bartter_syndrome_3;hgmd_2014.2.OMIM_ID=602023;hgmd_2014.2.PubMed=23550235;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23550235" target="_blank">23550235</a>;ExAC.Info.AC=5927;ExAC.Info.AN=26760;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=5402;ExAC.Info.AC_Hom=11;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=271;snpeff.Amino_Acid_Change=c.*271G>C;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*271G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.*271G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16383682">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,1986:127	0|0:76,0:76:99:0,228,2419:127	0|1:61,12:73:99:205,0,1750:127
1	16383742	.	C	G	17220.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=240;MQ=66.43;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Bartter_syndrome|_type_3|_607364_(3)|_Bartter_syndrome|_type_4b|_digenic|_613090_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1057857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057857" target="_blank">rs1057857</a>;ExAC.Info.AC=15248;ExAC.Info.AN=26004;ExAC.Info.AF=0.586;ExAC.Info.AC_Het=7091;ExAC.Info.AC_Hom=2327;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=331;snpeff.Amino_Acid_Change=c.*331C>G;snpeff.Amino_Acid_length=687;snpeff.Gene_Name=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375679;SAVANT_GENE=CLCNKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCNKB" target="_blank">CLCNKB</a>;SAVANT_INFO=+/13.5kb/20/2.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*331C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCNKB+c.*331C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16383742">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2329,213,0:127	1|1:1,91:92:99:2978,235,0:127	1|0:17,60:77:99:1821,0,320:127
1	16384986	.	G	T	107.09	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=19;MQ=65.59;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs28496958;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28496958" target="_blank">rs28496958</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=4909;ExAC.Info.AN=53616;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=2250;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789G>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctA;snpeff.Amino_Acid_Change=p.Leu263Leu/c.789C>A;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.789C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.789C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16384986">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:30:0,30,622:12	0|0:4,0:4:12:0,12,219:12	0|1:4,2:6:72:72,0,245:12
1	16384998	.	G	C	191.4	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=22;MQ=67.33;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1807285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1807285" target="_blank">rs1807285</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=5510;ExAC.Info.AN=57644;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=2864;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.777G>C;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro259Pro/c.777C>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.777C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.777C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16384998">View</a>	GT:AD:DP:GQ:PL:TP	0|0:12,0:12:36:0,36,711:9	0|0:3,0:3:9:0,9,184:9	0|1:4,3:7:99:114,0,298:9
1	16384999	.	G	A	191.4	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=22;MQ=67.91;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1807284;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1807284" target="_blank">rs1807284</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=5466;ExAC.Info.AN=58064;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=2891;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776G>A;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cTc;snpeff.Amino_Acid_Change=p.Pro259Leu/c.776C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.776C>T_p.Pro259Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.776C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16384999">View</a>	GT:AD:DP:GQ:PL:TP	0|0:12,0:12:36:0,36,711:9	0|0:3,0:3:9:0,9,184:9	0|1:4,3:7:99:114,0,298:9
1	16385042	.	G	A	232.78	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=33;MQ=56.73;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77667563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77667563" target="_blank">rs77667563</a>;cosmic68.Histology_subtype=pancreatoblastoma;ExAC.Info.AC=6888;ExAC.Info.AN=64916;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=3661;ExAC.Info.AC_Hom=3;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg245Trp/c.733C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.733C>T_p.Arg245Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.733C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16385042">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:27:0,27,317:22	0|0:8,0:8:24:0,24,273:22	0|1:9,7:16:99:135,0,256:22
1	16385131	.	C	A	1502.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=40;MQ=52.78;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1832151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1832151" target="_blank">rs1832151</a>;ExAC.Info.AC=19087;ExAC.Info.AN=124422;ExAC.Info.AF=0.153;ExAC.Info.AC_Het=16612;ExAC.Info.AC_Hom=166;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644C>A;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aTc;snpeff.Amino_Acid_Change=p.Ser215Ile/c.644G>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.644G>T_p.Ser215Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.644G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16385131">View</a>	GT:AD:DP:GQ:PL:TP	0|1:0,11:11:0:344,33,0:18	1|0:3,9:12:58:277,0,58:18	0|0:17,0:17:51:0,51,541:18
1	16385175	.	G	A	902.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=59;MQ=56.56;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17853748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17853748" target="_blank">rs17853748</a>;ExAC.Info.AC=64480;ExAC.Info.AN=123200;ExAC.Info.AF=0.523;ExAC.Info.AC_Het=35211;ExAC.Info.AC_Hom=7258;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser200Ser/c.600C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.600C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.600C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16385175">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,471:41	0|0:19,0:19:57:0,57,582:41	0|1:12,14:26:99:470,0,318:41
1	16385184	.	G	A	296.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=59;MQ=58.10;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs75273615;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75273615" target="_blank">rs75273615</a>;cosmic68.Histology_subtype=acute_myeloid_leukaemia;ExAC.Info.AC=28941;ExAC.Info.AN=123940;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=24097;ExAC.Info.AC_Hom=70;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser197Ser/c.591C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.591C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.591C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16385184">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:48:0,48,679:47	0|0:18,0:18:54:0,54,807:47	0|1:19,8:27:99:167,0,709:47
1	16385248	.	C	T	496.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=59;MQ=66.18;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs74054903;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74054903" target="_blank">rs74054903</a>;ExAC.Info.AC=42491;ExAC.Info.AN=104914;ExAC.Info.AF=0.405;ExAC.Info.AC_Het=13521;ExAC.Info.AC_Hom=2526;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.563-36G>A;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.563-36G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.563-36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16385248">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,630:41	0|0:18,0:18:54:0,54,810:41	0|1:19,8:27:99:267,0,774:41
1	16385250	.	A	G	496.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=58;MQ=66.69;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs74054904;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74054904" target="_blank">rs74054904</a>;ExAC.Info.AC=43489;ExAC.Info.AN=103586;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=12904;ExAC.Info.AC_Hom=2924;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.563-38T>C;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.563-38T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.563-38T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16385250">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,630:41	0|0:18,0:18:54:0,54,810:41	0|1:19,7:26:99:267,0,774:41
1	16385980	.	G	A	1370.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=248;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3884058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3884058" target="_blank">rs3884058</a>;ExAC.Info.AC=92165;ExAC.Info.AN=124980;ExAC.Info.AF=0.737;ExAC.Info.AC_Het=23170;ExAC.Info.AC_Hom=31772;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.562+9C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.562+9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.562+9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16385980">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2917:127	0|0:105,0:105:99:0,315,3687:127	0|1:36,26:62:99:704,0,1108:127
1	16386008	.	T	C	1490.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=167;MQ=69.76;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2863452;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2863452" target="_blank">rs2863452</a>;ExAC.Info.AC=93315;ExAC.Info.AN=124948;ExAC.Info.AF=0.747;ExAC.Info.AC_Het=22467;ExAC.Info.AC_Hom=32952;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln181Gln/c.543A>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.543A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.543A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16386008">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1684:127	0|0:72,0:72:99:0,217,2714:127	0|1:28,22:50:99:764,0,921:127
1	16386416	.	G	A	336.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=42;MQ=68.71;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs9442230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9442230" target="_blank">rs9442230</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=93123;ExAC.Info.AN=125160;ExAC.Info.AF=0.744;ExAC.Info.AC_Het=21969;ExAC.Info.AC_Hom=34166;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp133Asp/c.399C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.399C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.399C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16386416">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,0:11:33:0,33,343:32	0|0:17,0:17:51:0,51,553:32	0|1:8,6:14:99:187,0,207:32
1	16386447	.	G	C	3237.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=45;MQ=68.24;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11576236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11576236" target="_blank">rs11576236</a>;ExAC.Info.AC=117556;ExAC.Info.AN=123908;ExAC.Info.AF=0.949;ExAC.Info.AC_Het=5104;ExAC.Info.AC_Hom=51672;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cGg;snpeff.Amino_Acid_Change=p.Pro123Arg/c.368C>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.368C>G_p.Pro123Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.368C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16386447">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,13:13:39:392,39,0:35	1|1:0,20:20:60:643,60,0:35	1|1:0,12:12:36:344,36,0:35
1	16388580	.	C	A	612.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=42;MQ=67.47;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3978467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3978467" target="_blank">rs3978467</a>;ExAC.Info.AC=11850;ExAC.Info.AN=124822;ExAC.Info.AF=0.095;ExAC.Info.AC_Het=29223;ExAC.Info.AC_Hom=4185;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.268+14G>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.268+14G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.268+14G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16388580">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,3:11:51:51,0,251:38	0|0:13,0:13:39:0,39,442:38	1|0:14,4:18:99:105,0,400:38
1	16388646	.	T	C	3345.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=55;MQ=65.49;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2863456;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2863456" target="_blank">rs2863456</a>;ExAC.Info.AC=106434;ExAC.Info.AN=125168;ExAC.Info.AF=0.850;ExAC.Info.AC_Het=17540;ExAC.Info.AC_Hom=43852;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg72Arg/c.216A>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.216A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.216A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16388646">View</a>	GT:AD:DP:GQ:PL:TP	0|1:6,11:17:99:311,0,134:57	1|1:0,19:19:57:621,57,0:57	0|1:5,14:19:99:394,0,110:57
1	16388709	.	G	T	1990.93	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=21;MQ=62.23;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs28570004;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28570004" target="_blank">rs28570004</a>;ExAC.Info.AC=62329;ExAC.Info.AN=124838;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=42827;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.175-22C>A;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.175-22C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.175-22C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16388709">View</a>	GT:AD:DP:GQ:PL:TP	0|1:2,4:6:67:137,0,67:15	1|1:0,10:10:30:374,30,0:15	0|1:0,5:5:0:179,15,0:15
1	16388890	.	G	C	199.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=7;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.174+104C>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375662;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375662;SAVANT_GENE=FAM131C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM131C" target="_blank">FAM131C</a>;SAVANT_INFO=-/15.9kb/7/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.174+104C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM131C+c.174+104C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16388890">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,1:1:2:5,2,0:1	1|0:1,2:3:25:42,0,25:1	1|0:1,2:3:1:23,0,1:1
1	16458076	.	CA	C	36.28	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cataract_6|_multiple_types|_116600_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2475+139delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_ARHGEF16_and_ELMO2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_ARHGEF16_and_ELMO2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_ARHGEF16_and_ELMO2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_ARHGEF16_and_ELMO2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_ARHGEF16_and_ELMO2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_ARHGEF16_and_ELMO2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_ARHGEF16_and_ELMO2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476delA;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000358432;SAVANT_GENE=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;SAVANT_INFO=-/31.8kb/17/4.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2475+139delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA2+c.2475+139delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16458076">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,4:34:8:8,0,685:8	0|0:55,1:56:99:0,139,1393:8	1|0:22,3:25:8:8,0,482:8
1	16464673	.	G	A	4258.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cataract_6|_multiple_types|_116600_(3);dbSNP139.ID=rs2230597;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230597" target="_blank">rs2230597</a>;ExAC.Info.AC=46855;ExAC.Info.AN=126410;ExAC.Info.AF=0.371;ExAC.Info.AC_Het=27603;ExAC.Info.AC_Hom=8861;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro329Pro/c.987C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358432;SAVANT_GENE=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;SAVANT_INFO=-/31.8kb/17/4.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.987C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA2+c.987C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16464673">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,20:47:99:563,0,793:127	1|0:36,34:70:99:999,0,1091:127	0|0:50,0:50:99:0,150,1939:127
1	16475123	.	C	T	13887.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cataract_6|_multiple_types|_116600_(3);dbSNP139.ID=rs6678616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6678616" target="_blank">rs6678616</a>;ExAC.Info.AC=36721;ExAC.Info.AN=126678;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=25050;ExAC.Info.AC_Hom=5631;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CLDN4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CLDN4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CLDN4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu191Leu/c.573G>A;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358432;SAVANT_GENE=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;SAVANT_INFO=-/31.8kb/17/4.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.573G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA2+c.573G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16475123">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,59:117:99:2323,0,2306:127	1|0:81,78:159:99:3073,0,3132:127	0|0:119,0:119:99:0,367,5461:127
1	16475126	.	C	T	14027.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cataract_6|_multiple_types|_116600_(3);dbSNP139.ID=rs6678618;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6678618" target="_blank">rs6678618</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=36728;ExAC.Info.AN=126676;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=25042;ExAC.Info.AC_Hom=5636;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CLDN4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CLDN4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CLDN4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570C>T;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala190Ala/c.570G>A;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358432;SAVANT_GENE=EPHA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA2" target="_blank">EPHA2</a>;SAVANT_INFO=-/31.8kb/17/4.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.570G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA2+c.570G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16475126">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,59:117:99:2347,0,2263:127	1|0:79,79:158:99:3109,0,3090:127	0|0:119,0:119:99:0,367,5462:127
1	16532803	.	G	A	2323.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs221050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=221050" target="_blank">rs221050</a>;ExAC.Info.AC=27963;ExAC.Info.AN=123840;ExAC.Info.AF=0.226;ExAC.Info.AC_Het=12046;ExAC.Info.AC_Hom=2270;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>A;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>A;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>A;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>A;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>A;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>A;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser390Ser/c.1170C>T;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270747;SAVANT_GENE=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;SAVANT_INFO=-/14.5kb/16/3.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1170C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF19+c.1170C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16532803">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2455:127	0|0:83,0:83:99:0,249,3050:127	0|1:38,38:76:99:1181,0,1160:127
1	16532848	.	A	G	2052.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs221051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=221051" target="_blank">rs221051</a>;ExAC.Info.AC=23622;ExAC.Info.AN=118906;ExAC.Info.AF=0.199;ExAC.Info.AC_Het=9031;ExAC.Info.AC_Hom=1633;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1138-13T>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>G;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>G;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>G;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>G;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>G;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>G;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270747;SAVANT_GENE=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;SAVANT_INFO=-/14.5kb/16/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1138-13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF19+c.1138-13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16532848">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,2011:127	0|0:97,0:97:99:0,291,3227:127	0|1:42,40:82:99:1045,0,1223:127
1	16533022	.	C	T	6725.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs221052;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=221052" target="_blank">rs221052</a>;ExAC.Info.AC=13622;ExAC.Info.AN=20866;ExAC.Info.AF=0.653;ExAC.Info.AC_Het=507;ExAC.Info.AC_Hom=766;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1138-187G>A;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>T;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>T;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>T;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>T;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>T;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>T;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270747;SAVANT_GENE=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;SAVANT_INFO=-/14.5kb/16/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1138-187G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF19+c.1138-187G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16533022">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,29:68:99:793,0,1008:123	0|1:26,18:44:99:496,0,831:123	1|1:0,41:41:99:1378,123,0:123
1	16533444	.	T	C	1624.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=60;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=4;ExAC.Info.AN=30284;ExAC.Info.AF=1.321e-04;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136T>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136T>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136T>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136T>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136T>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136T>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>G;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu379Gly/c.1136A>G;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270747;SAVANT_GENE=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;SAVANT_INFO=-/14.5kb/16/3.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1136A>G_p.Glu379Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF19+c.1136A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16533444">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,5:14:99:167,0,285:90	1|0:11,5:16:99:123,0,350:90	0|0:30,0:30:90:0,90,1025:90
1	16534002	.	C	G	1266.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs221056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=221056" target="_blank">rs221056</a>;ExAC.Info.AC=34583;ExAC.Info.AN=126670;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=23774;ExAC.Info.AC_Hom=5261;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.874+15G>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270747;SAVANT_GENE=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;SAVANT_INFO=-/14.5kb/16/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.874+15G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF19+c.874+15G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16534002">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1690:127	0|0:49,0:49:99:0,147,1860:127	0|1:12,21:33:99:652,0,374:127
1	16534255	.	C	G	1512.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs221057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=221057" target="_blank">rs221057</a>;ExAC.Info.AC=34701;ExAC.Info.AN=126688;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=23835;ExAC.Info.AC_Hom=5384;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Cag;snpeff.Amino_Acid_Change=p.Glu238Gln/c.712G>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270747;SAVANT_GENE=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;SAVANT_INFO=-/14.5kb/16/3.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.712G>C_p.Glu238Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF19+c.712G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16534255">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,146,1734:127	0|0:67,0:67:99:0,201,2325:127	0|1:24,23:47:99:775,0,713:127
1	16534646	.	C	G	1362.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs221058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=221058" target="_blank">rs221058</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=33747;ExAC.Info.AN=126662;ExAC.Info.AF=0.266;ExAC.Info.AC_Het=23126;ExAC.Info.AC_Hom=5225;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Cgc;snpeff.Amino_Acid_Change=p.Gly163Arg/c.487G>C;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270747;SAVANT_GENE=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;SAVANT_INFO=-/14.5kb/16/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.487G>C_p.Gly163Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF19+c.487G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16534646">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2217:127	0|0:54,0:54:99:0,162,2040:127	0|1:26,23:49:99:700,0,777:127
1	16534730	.	G	A	526.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=63;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs221059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=221059" target="_blank">rs221059</a>;ExAC.Info.AC=34381;ExAC.Info.AN=126462;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=23273;ExAC.Info.AC_Hom=5204;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.413-10C>T;snpeff.Amino_Acid_length=802;snpeff.Gene_Name=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270747;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270747;SAVANT_GENE=ARHGEF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF19" target="_blank">ARHGEF19</a>;SAVANT_INFO=-/14.5kb/16/3.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.413-10C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF19+c.413-10C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16534730">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,876:62	0|0:21,0:21:63:0,63,764:62	0|1:9,9:18:99:282,0,278:62
1	16543175	.	A	C	10102.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs221024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=221024" target="_blank">rs221024</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1580-71T>G;snpeff.Gene_Name=ANO7P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO7P1" target="_blank">ANO7P1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602586;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442385;SAVANT_GENE=ANO7L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO7L1" target="_blank">ANO7L1</a>;SAVANT_INFO=-/1.3kb/3/0.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.35-71T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO7L1+c.35-71T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16543175">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,32:33:59:1107,59,0:125	1|1:0,42:42:99:1487,126,0:125	1|1:0,45:45:99:1547,135,0:125
1	16577908	.	G	C	24566.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12069239;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12069239" target="_blank">rs12069239</a>;ExAC.Info.AC=38512;ExAC.Info.AN=126700;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=25627;ExAC.Info.AC_Hom=6381;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Gct;snpeff.Amino_Acid_Change=p.Pro471Ala/c.1411C>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=FBXO42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO42" target="_blank">FBXO42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375592;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375592;SAVANT_GENE=FBXO42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO42" target="_blank">FBXO42</a>;SAVANT_INFO=-/105.6kb/10/6.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1411C>G_p.Pro471Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO42+c.1411C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16577908">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,100:101:99:3503,296,0:127	1|1:0,121:121:99:4447,364,0:127	1|0:57,57:114:99:1707,0,1651:127
1	16621234	.	G	A	5556.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12353958;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12353958" target="_blank">rs12353958</a>;ExAC.Info.AC=8564;ExAC.Info.AN=126674;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=7669;ExAC.Info.AC_Hom=437;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.502+44C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=FBXO42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO42" target="_blank">FBXO42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375592;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Kelch_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.503G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=FBXO42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO42" target="_blank">FBXO42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375592;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Kelch_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.503G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=FBXO42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO42" target="_blank">FBXO42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375592;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375592;SAVANT_GENE=FBXO42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO42" target="_blank">FBXO42</a>;SAVANT_INFO=-/105.6kb/10/6.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.502+44C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO42+c.502+44C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16621234">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,30:55:99:822,0,748:127	0/1:34,34:68:99:898,0,1036:127	0/1:32,24:56:99:639,0,1013:127
1	16693725	.	T	TG	2227.72	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=28;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs142845497;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142845497" target="_blank">rs142845497</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SZRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZRD1" target="_blank">SZRD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000401088;SAVANT_GENE=C1orf144;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf144" target="_blank">C1orf144</a>;SAVANT_INFO=+/31.1kb/4/3.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-23dupG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf144+c.-23dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16693725">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,10:10:30:319,30,0:29	1|1:0,11:11:39:414,39,0:29	1|0:4,3:7:75:75,0,107:29
1	16725330	.	G	A	12205.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=383;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs41307763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41307763" target="_blank">rs41307763</a>;ExAC.Info.AC=11467;ExAC.Info.AN=126692;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=10163;ExAC.Info.AC_Hom=630;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1353-13C>T;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335496;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335496;SAVANT_GENE=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;SAVANT_INFO=-/38.8kb/13/2.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1353-13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPATA21+c.1353-13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16725330">View</a>	GT:AD:DP:GQ:PL:TP	0/1:61,75:136:99:2039,0,1719:127	0/1:74,74:148:99:2033,0,2273:127	0/1:50,49:99:99:1407,0,1562:127
1	16731510	.	C	G	4300.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=447;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs525409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=525409" target="_blank">rs525409</a>;ExAC.Info.AC=34433;ExAC.Info.AN=126702;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=23476;ExAC.Info.AC_Hom=5452;snpeff.Effect=sequence_feature[domain:EF-hand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.763C>G;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335496;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.763C>G;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335496;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ctg;snpeff.Amino_Acid_Change=p.Val255Leu/c.763G>C;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335496;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335496;SAVANT_GENE=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;SAVANT_INFO=-/38.8kb/13/2.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.763G>C_p.Val255Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPATA21+c.763G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16731510">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,427,5232:127	0|0:175,0:175:99:0,526,6385:127	0|1:58,72:130:99:2169,0,1750:127
1	16731646	.	T	C	8390.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3106498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3106498" target="_blank">rs3106498</a>;ExAC.Info.AC=125351;ExAC.Info.AN=126694;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1168;ExAC.Info.AC_Hom=61739;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.674-47A>G;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335496;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674T>C;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335496;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674T>C;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335496;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335496;SAVANT_GENE=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;SAVANT_INFO=-/38.8kb/13/2.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.674-47A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPATA21+c.674-47A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16731646">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1339,117,0:101	1|1:0,36:36:99:1324,108,0:101	1|1:0,34:34:99:1182,102,0:101
1	16736132	.	T	C	9190.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4661746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4661746" target="_blank">rs4661746</a>;ExAC.Info.AC=31177;ExAC.Info.AN=126668;ExAC.Info.AF=0.246;ExAC.Info.AC_Het=22086;ExAC.Info.AC_Hom=4294;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln184Arg/c.551A>G;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335496;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335496;SAVANT_GENE=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;SAVANT_INFO=-/38.8kb/13/2.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.551A>G_p.Gln184Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPATA21+c.551A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16736132">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1508,135,0:127	1|1:0,51:51:99:1736,153,0:127	1|0:20,19:39:99:499,0,608:127
1	16736546	.	C	T	5536.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10907226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10907226" target="_blank">rs10907226</a>;ExAC.Info.AC=76536;ExAC.Info.AN=124260;ExAC.Info.AF=0.616;ExAC.Info.AC_Het=24053;ExAC.Info.AC_Hom=23247;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.145-8G>A;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335496;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145G>A;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335496;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335496;SAVANT_GENE=SPATA21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA21" target="_blank">SPATA21</a>;SAVANT_INFO=-/38.8kb/13/2.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.145-8G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPATA21+c.145-8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16736546">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:652,57,0:56	1|1:0,32:32:96:1161,96,0:56	1|0:20,13:33:99:385,0,761:56
1	16862454	.	T	G	7480.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=722;MQ=42.70;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs71248115;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71248115" target="_blank">rs71248115</a>;ExAC.Info.AC=10153;ExAC.Info.AN=23532;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=8371;ExAC.Info.AC_Hom=4;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357301;SAVANT_GENE=AL355149.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3551491" target="_blank">AL3551491</a>;SAVANT_INFO=+/2.4kb/2/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.175T>G_p.Ser59Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3551491+c.175T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16862454">View</a>	GT:AD:DP:GQ:PL:TP	0/1:182,54:236:99:1674,0,7384:127	0/1:219,62:281:99:1809,0,8987:127	0/1:175,30:205:99:665,0,7152:127
1	16862461	.	T	A	6432.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=720;MQ=43.43;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs145386412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145386412" target="_blank">rs145386412</a>;ExAC.Info.AC=10207;ExAC.Info.AN=22594;ExAC.Info.AF=0.452;ExAC.Info.AC_Het=8150;ExAC.Info.AC_Hom=11;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357301;SAVANT_GENE=AL355149.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3551491" target="_blank">AL3551491</a>;SAVANT_INFO=+/2.4kb/2/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.182T>A_p.Val61Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3551491+c.182T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16862461">View</a>	GT:AD:DP:GQ:PL:TP	0/1:190,50:240:99:1522,0,7695:127	0/1:223,55:278:99:1592,0,9106:127	0/1:177,25:202:99:528,0,7321:127
1	16862502	.	A	G	9005.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=727;MQ=43.96;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs141629643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141629643" target="_blank">rs141629643</a>;ExAC.Info.AC=10677;ExAC.Info.AN=22664;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=7541;ExAC.Info.AC_Hom=36;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357301;SAVANT_GENE=AL355149.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3551491" target="_blank">AL3551491</a>;SAVANT_INFO=+/2.4kb/2/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.223A>G_p.Asn75Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3551491+c.223A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16862502">View</a>	GT:AD:DP:GQ:PL:TP	0/1:182,76:258:99:1889,0,4804:127	0/1:193,67:260:99:1520,0,5552:127	0/1:165,44:209:99:919,0,4786:127
1	16862638	.	A	G	2910.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=372;MQ=44.99;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs369070338;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=369070338" target="_blank">rs369070338</a>;ExAC.Info.AC=3064;ExAC.Info.AN=28716;ExAC.Info.AF=0.107;ExAC.Info.AC_Het=2927;ExAC.Info.AC_Hom=0;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357301;SAVANT_GENE=AL355149.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3551491" target="_blank">AL3551491</a>;SAVANT_INFO=+/2.4kb/2/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.340+19A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3551491+c.340+19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16862638">View</a>	GT:AD:DP:GQ:PL:TP	0/1:95,37:132:99:801,0,2597:127	0/1:117,18:135:99:180,0,3439:127	0/1:88,17:105:99:247,0,2648:127
1	16892811	.	A	G	27620.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1211;MQ=52.13;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=39922;ExAC.Info.AN=124116;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=39368;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2891+92T>C;snpeff.Amino_Acid_length=1139;snpeff.Gene_Name=NBPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF1" target="_blank">NBPF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000430580;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF1" target="_blank">NBPF1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16892811">View</a>	GT:AD:DP:GQ:PL:TP	0/1:262,199:461:99:5707,0,6763:127	0/1:229,209:438:99:5919,0,6153:127	0/1:206,106:312:99:2661,0,5697:127
1	16893033	.	G	A	26454.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=420;MQ=58.14;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3983170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3983170" target="_blank">rs3983170</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2840-79C>T;snpeff.Amino_Acid_length=1139;snpeff.Gene_Name=NBPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF1" target="_blank">NBPF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000430580;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF1" target="_blank">NBPF1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16893033">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,126:127:99:4855,361,0:127	1|1:0,154:154:99:6195,469,0:127	1|0:47,92:139:99:3237,0,1135:127
1	16893042	.	T	A	3319.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=454;MQ=57.77;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2840-88A>T;snpeff.Amino_Acid_length=1139;snpeff.Gene_Name=NBPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF1" target="_blank">NBPF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000430580;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF1" target="_blank">NBPF1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16893042">View</a>	GT:AD:DP:GQ:PL:TP	0/1:108,26:134:99:502,0,3184:127	0/1:127,45:172:99:997,0,3792:127	0/1:128,20:148:99:232,0,5594:127
1	16950346	.	A	C	1190.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=45;MQ=67.32;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9663015;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9663015" target="_blank">rs9663015</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1000+1924T>G;snpeff.Gene_Name=CROCCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCCP2" target="_blank">CROCCP2</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000412962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCCP2" target="_blank">CROCCP2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCCP2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16950346">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,13:25:99:330,0,298:44	0/1:8,2:10:44:44,0,257:44	0/1:6,4:10:92:92,0,141:44
1	16972067	.	C	T	232.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=166;MQ=57.17;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1360574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1360574" target="_blank">rs1360574</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1360574" target="_blank">rs1360574</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16972067">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,166,2740:127	0|0:62,0:62:99:0,187,3124:127	0|1:41,8:49:99:135,0,1801:127
1	16972068	.	A	G	848.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=164;MQ=57.10;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1360575;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1360575" target="_blank">rs1360575</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=upstream_gene_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16972068">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1852:127	0|0:62,0:62:99:0,186,2273:127	0|1:34,14:48:99:443,0,1073:127
1	16972134	.	C	T	340.2	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=245;MQ=61.07;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4661404;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4661404" target="_blank">rs4661404</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.66C>T;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16972134">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,5:76:57:0,57,2136:17	0|0:86,8:94:17:0,17,2673:17	0|1:62,13:75:99:186,0,1917:17
1	16973388	.	C	T	1198.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=563;MQ=61.97;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs76880030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76880030" target="_blank">rs76880030</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.468C>T;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16973388">View</a>	GT:AD:DP:GQ:PL:TP	0|0:161,14:175:83:0,83,5106:82	0|0:243,13:256:99:0,359,8162:82	0|1:100,32:132:99:618,0,2840:82
1	16973400	.	G	A	734.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=571;MQ=63.06;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2761542;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2761542" target="_blank">rs2761542</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.476+4G>A;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.477G>A;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16973400">View</a>	GT:AD:DP:GQ:PL:TP	0|0:165,10:175:99:0,179,5541:127	0|0:262,10:272:99:0,468,8829:127	0|1:102,22:124:99:386,0,3065:127
1	16973423	.	C	T	304.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=560;MQ=60.26;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs77783374;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77783374" target="_blank">rs77783374</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.476+27C>T;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16973423">View</a>	GT:AD:DP:GQ:PL:TP	0|0:172,0:172:99:0,517,5960:127	0|0:260,0:260:99:0,781,9074:127	0|1:112,16:128:99:171,0,3489:127
1	16973519	.	G	A	1072.05	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=729;MQ=46.82;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2501762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2501762" target="_blank">rs2501762</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.521G>A;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16973519">View</a>	GT:AD:DP:GQ:PL:TP	0|1:216,24:240:57:57,0,6516:27	1|0:261,41:302:99:519,0,8121:27	0|0:170,17:187:27:0,27,5214:27
1	16973606	.	G	T	2209.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=846;MQ=55.68;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs76859932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76859932" target="_blank">rs76859932</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.608G>T;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16973606">View</a>	GT:AD:DP:GQ:PL:TP	1|0:231,29:260:99:155,0,7054:127	0|0:364,0:364:99:0,1094,12364:127	1|0:171,51:222:99:1018,0,4940:127
1	16973919	.	A	G	3308.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=261;MQ=48.22;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs141898836;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141898836" target="_blank">rs141898836</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.735-39A>G;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16973919">View</a>	GT:AD:DP:GQ:PL:TP	0/1:71,19:90:99:289,0,1897:127	0/1:72,25:97:99:443,0,1896:127	0/1:50,24:74:99:423,0,1295:127
1	16974511	.	G	A	792.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=323;MQ=67.42;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs58679574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58679574" target="_blank">rs58679574</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1023-52G>A;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16974511">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,10:135:66:0,66,4025:66	0|0:114,0:114:99:0,343,3898:66	0|1:56,18:74:99:415,0,1805:66
1	16974592	.	C	T	2832.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=336;MQ=68.44;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs201212576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201212576" target="_blank">rs201212576</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1052C>T;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16974592">View</a>	GT:AD:DP:GQ:PL:TP	0/1:109,22:131:99:416,0,3425:127	0/1:101,30:131:99:562,0,3277:127	0/1:61,13:74:99:173,0,1970:127
1	16974637	.	T	C	2236.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=335;MQ=67.40;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs16854791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16854791" target="_blank">rs16854791</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1097T>C;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16974637">View</a>	GT:AD:DP:GQ:PL:TP	0/1:113,24:137:99:353,0,3261:127	0/1:105,23:128:99:389,0,3125:127	0/1:57,13:70:99:258,0,1662:127
1	16974662	.	C	A	878.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=291;MQ=64.72;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs28460410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28460410" target="_blank">rs28460410</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1122C>A;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16974662">View</a>	GT:AD:DP:GQ:PL:TP	0/1:96,14:110:99:168,0,2933:78	0/1:100,16:116:99:233,0,3211:78	0/1:58,7:65:78:78,0,1898:78
1	16974666	.	C	T	492.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=282;MQ=64.19;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs28503658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28503658" target="_blank">rs28503658</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1126C>T;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16974666">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,321,3632:127	0|0:111,0:111:99:0,334,3883:127	0|1:51,13:64:99:265,0,1651:127
1	16974758	.	G	A	100.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=119;MQ=58.84;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs28484638;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28484638" target="_blank">rs28484638</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1154-36G>A;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16974758">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1493:68	0|0:53,0:53:99:0,159,1888:68	0|1:21,4:25:69:69,0,637:68
1	16975045	.	G	A	5531.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=762;MQ=59.38;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs55763726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55763726" target="_blank">rs55763726</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1278G>A;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16975045">View</a>	GT:AD:DP:GQ:PL:TP	0/1:217,41:258:99:651,0,6460:127	0/1:221,55:276:99:1138,0,6545:127	0/1:184,44:228:99:896,0,5445:127
1	16975202	.	T	C	17240.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1280;MQ=52.74;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs28602904;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28602904" target="_blank">rs28602904</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1390+43T>C;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16975202">View</a>	GT:AD:DP:GQ:PL:TP	0/1:280,140:420:99:3395,0,8017:127	0/1:344,108:452:99:2279,0,10463:127	0/1:287,121:408:99:2665,0,8542:127
1	16975230	.	G	C	78567.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=1279;MQ=46.49;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2761535;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2761535" target="_blank">rs2761535</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1391-21G>C;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16975230">View</a>	GT:AD:DP:GQ:PL:TP	1|1:32,383:415:99:12040,196,0:127	1|0:60,404:464:99:12417,0,961:127	1|1:0,400:400:99:13354,1201,0:127
1	16975278	.	A	ACC	534.22	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1054;MQ=45.72;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs111244008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111244008" target="_blank">rs111244008</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1419_1420insCC;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16975278">View</a>	GT:AD:DP:GQ:PL:TP	1|0:302,33:335:99:246,0,11193:12	0|0:373,30:403:12:0,12,13852:12	1|0:288,28:316:99:150,0,10811:12
1	16975831	.	C	T	772.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=745;MQ=43.51;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61772254;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61772254" target="_blank">rs61772254</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1629-43C>T;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16975831">View</a>	GT:AD:DP:GQ:PL:TP	0|0:266,18:284:99:0,245,7748:127	0|0:269,19:288:99:0,222,7855:127	0|1:144,29:173:99:405,0,4070:127
1	16975868	.	T	A	626.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=602;MQ=41.10;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs200822664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200822664" target="_blank">rs200822664</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1629-6T>A;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.1629T>A;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16975868">View</a>	GT:AD:DP:GQ:PL:TP	0|0:218,0:218:99:0,655,7110:127	0|0:244,0:244:99:0,733,8203:127	0|1:114,26:140:99:332,0,3365:127
1	16975912	.	CCCTGTT	C	395.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=420;MQ=43.98;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs148656339;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148656339" target="_blank">rs148656339</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1668_1673delCCTGTT;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16975912">View</a>	GT:AD:DP:GQ:PL:TP	0|0:159,0:159:99:0,478,7101:127	0|0:170,0:170:99:0,510,7532:127	0|1:80,11:91:99:221,0,3305:127
1	16975994	.	T	C	2681.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=438;MQ=61.32;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2261801;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2261801" target="_blank">rs2261801</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1749T>C;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16975994">View</a>	GT:AD:DP:GQ:PL:TP	1|0:140,33:173:99:663,0,4272:43	0|0:162,13:175:43:0,43,5194:43	1|0:66,24:90:99:603,0,2004:43
1	16976032	.	A	C	5462.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=584;MQ=63.28;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2483047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2483047" target="_blank">rs2483047</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1775+12A>C;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16976032">View</a>	GT:AD:DP:GQ:PL:TP	0/1:184,46:230:99:926,0,5224:127	0/1:180,46:226:99:1018,0,5295:127	0/1:102,26:128:99:535,0,2894:127
1	16976620	.	A	G	11407.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=656;MQ=50.08;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs55885953;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55885953" target="_blank">rs55885953</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2074A>G;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16976620">View</a>	GT:AD:DP:GQ:PL:TP	0/1:126,98:224:99:2441,0,3303:127	0/1:201,56:257:99:1087,0,5462:127	0/1:108,67:175:99:1706,0,2795:127
1	16976641	.	C	T	4456.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=773;MQ=49.86;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1057417;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057417" target="_blank">rs1057417</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2095C>T;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16976641">View</a>	GT:AD:DP:GQ:PL:TP	0/1:227,37:264:99:829,0,9382:127	0/1:287,29:316:99:252,0,12491:127	0/1:167,26:193:99:540,0,7384:127
1	16976649	.	C	T	4476.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=780;MQ=50.84;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1057333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057333" target="_blank">rs1057333</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2103C>T;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16976649">View</a>	GT:AD:DP:GQ:PL:TP	0/1:227,37:264:99:826,0,9424:127	0/1:291,30:321:99:300,0,12508:127	0/1:170,25:195:99:524,0,7352:127
1	16976679	.	G	A	33584.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=732;MQ=48.58;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1065528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1065528" target="_blank">rs1065528</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2133G>A;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16976679">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,208:245:99:5773,0,909:127	0/1:99,215:314:99:5679,0,2762:127	0/1:87,86:173:99:2341,0,2679:127
1	16976681	.	G	T	2598.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=719;MQ=48.29;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3175284;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3175284" target="_blank">rs3175284</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2135G>T;snpeff.Gene_Name=MST1P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000334429;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P2" target="_blank">MST1P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:16976681">View</a>	GT:AD:DP:GQ:PL:TP	0/1:207,36:243:99:347,0,8655:127	0/1:263,43:306:99:248,0,10403:127	0/1:134,36:170:99:505,0,4876:127
1	17017675	.	C	A	52269.93	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=748;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2743471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2743471" target="_blank">rs2743471</a>;ExAC.Info.AC=67134;ExAC.Info.AN=126664;ExAC.Info.AF=0.530;ExAC.Info.AC_Het=49482;ExAC.Info.AC_Hom=8515;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17017675">View</a>	GT:AD:DP:GQ:PL:TP	1|1:4,265:269:99:8429,765,0:127	1|1:0,267:267:99:8537,797,0:127	1|1:3,209:212:99:6567,604,0:127
1	17022952	.	C	A	29978.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=354;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs557690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=557690" target="_blank">rs557690</a>;ExAC.Info.AC=110200;ExAC.Info.AN=117400;ExAC.Info.AF=0.939;ExAC.Info.AC_Het=2746;ExAC.Info.AC_Hom=22831;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1912G>T;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17022952">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3409,319,0:127	1|1:0,151:151:99:5222,454,0:127	1|1:0,97:97:99:3266,291,0:127
1	17023110	.	G	A	15186.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=391;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11260887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11260887" target="_blank">rs11260887</a>;ExAC.Info.AC=35063;ExAC.Info.AN=126302;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=33586;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1754C>T;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17023110">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,52:105:99:1492,0,1569:127	0/1:65,95:160:99:2774,0,1881:127	0/1:55,71:126:99:2055,0,1576:127
1	17023126	.	C	G	10505.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=338;MQ=69.87;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2610633;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2610633" target="_blank">rs2610633</a>;ExAC.Info.AC=24887;ExAC.Info.AN=126286;ExAC.Info.AF=0.197;ExAC.Info.AC_Het=21885;ExAC.Info.AC_Hom=340;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1738G>C;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17023126">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,50:96:99:1533,0,1484:127	0/1:73,61:134:99:1843,0,2375:127	0/1:80,28:108:99:706,0,2671:127
1	17023143	.	C	T	11527.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=296;MQ=69.81;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs559507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=559507" target="_blank">rs559507</a>;ExAC.Info.AC=48877;ExAC.Info.AN=126250;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=47247;ExAC.Info.AC_Hom=19;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1721G>A;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17023143">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,44:86:99:1372,0,1115:127	0/1:54,65:119:99:2054,0,1427:127	0/1:44,47:91:99:1554,0,1123:127
1	17023182	.	C	G	7411.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=217;MQ=69.49;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs614461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=614461" target="_blank">rs614461</a>;ExAC.Info.AC=58332;ExAC.Info.AN=126260;ExAC.Info.AF=0.462;ExAC.Info.AC_Het=53144;ExAC.Info.AC_Hom=1468;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1682G>C;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17023182">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,32:66:99:1032,0,959:127	0/1:42,43:85:99:1289,0,1177:127	0/1:34,32:66:99:1027,0,1142:127
1	17023376	.	C	T	13186.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=375;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs613579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=613579" target="_blank">rs613579</a>;ExAC.Info.AC=53692;ExAC.Info.AN=126600;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=53257;ExAC.Info.AC_Hom=10;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1572G>A;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17023376">View</a>	GT:AD:DP:GQ:PL:TP	0/1:62,61:123:99:1793,0,1719:127	0/1:65,67:132:99:1897,0,1844:127	0/1:66,54:120:99:1462,0,1869:127
1	17023403	.	G	A	11390.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10907267;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10907267" target="_blank">rs10907267</a>;ExAC.Info.AC=42813;ExAC.Info.AN=126604;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=41926;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1545C>T;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17023403">View</a>	GT:AD:DP:GQ:PL:TP	0/1:57,48:105:99:1318,0,1509:127	0/1:62,57:119:99:1547,0,1796:127	0/1:60,47:107:99:1362,0,1719:127
1	17025828	.	G	C	2600.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=84;MQ=57.71;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2610624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2610624" target="_blank">rs2610624</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1528+93C>G;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17025828">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,7:24:99:167,0,554:127	0/1:16,13:29:99:399,0,487:127	0/1:17,14:31:99:447,0,491:127
1	17025852	.	T	C	9013.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=101;MQ=61.06;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs537296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=537296" target="_blank">rs537296</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1528+69A>G;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17025852">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,21:21:63:785,63,0:116	1|1:0,41:41:99:1551,123,0:116	1|1:0,39:39:99:1348,117,0:116
1	17026004	.	C	G	54.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=136;MQ=70.03;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs9661305;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9661305" target="_blank">rs9661305</a>;ExAC.Info.AC=5599;ExAC.Info.AN=20262;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=3785;ExAC.Info.AC_Hom=81;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1445G>C;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17026004">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1810:46	0|0:57,0:57:99:0,175,2415:46	0|1:32,4:36:46:46,0,1244:46
1	17026043	.	G	GGCA	9486.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=184;MQ=71.41;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=5065;ExAC.Info.AN=20652;ExAC.Info.AF=0.245;ExAC.Info.AC_Het=4034;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1405_1406insTGC;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17026043">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,25:60:99:938,0,1286:127	0/1:35,34:69:99:1336,0,1298:127	0/1:28,27:55:99:1037,0,1051:127
1	17026087	.	G	A	9639.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=253;MQ=70.96;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs678369;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=678369" target="_blank">rs678369</a>;ExAC.Info.AC=5652;ExAC.Info.AN=23180;ExAC.Info.AF=0.244;ExAC.Info.AC_Het=4021;ExAC.Info.AC_Hom=5;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1362C>T;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17026087">View</a>	GT:AD:DP:GQ:PL:TP	0/1:40,41:81:99:1023,0,1165:127	0/1:44,53:97:99:1629,0,1196:127	0/1:36,39:75:99:1068,0,1092:127
1	17029257	.	T	C	20757.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=340;MQ=69.07;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12125112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12125112" target="_blank">rs12125112</a>;ExAC.Info.AC=33026;ExAC.Info.AN=126502;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=29255;ExAC.Info.AC_Hom=1700;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1109A>G;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17029257">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3566,309,0:127	1|0:36,85:121:99:2666,0,917:127	1|0:68,48:116:99:1433,0,1959:127
1	17029462	.	A	G	7634.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=329;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11260891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11260891" target="_blank">rs11260891</a>;ExAC.Info.AC=41771;ExAC.Info.AN=126656;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=41302;ExAC.Info.AC_Hom=2;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.904T>C;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17029462">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,59:105:99:1534,0,1030:127	0/1:90,20:110:99:380,0,2378:127	0/1:67,47:114:99:1225,0,1686:127
1	17030504	.	T	A	2298.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=270;MQ=69.97;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs601031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=601031" target="_blank">rs601031</a>;ExAC.Info.AC=40665;ExAC.Info.AN=126704;ExAC.Info.AF=0.321;ExAC.Info.AC_Het=39676;ExAC.Info.AC_Hom=160;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.832A>T;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17030504">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,274,4637:127	0|1:83,24:107:99:712,0,4424:127	0|1:60,16:76:99:457,0,3189:127
1	17030518	.	C	T	2418.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=295;MQ=69.97;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs200139772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200139772" target="_blank">rs200139772</a>;ExAC.Info.AC=41975;ExAC.Info.AN=126704;ExAC.Info.AF=0.331;ExAC.Info.AC_Het=41417;ExAC.Info.AC_Hom=128;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.818G>A;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17030518">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,298,4439:127	0|1:89,25:114:99:810,0,3734:127	0|1:70,14:84:99:419,0,2894:127
1	17030519	.	T	G	2334.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=295;MQ=69.97;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs201039793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201039793" target="_blank">rs201039793</a>;ExAC.Info.AC=41963;ExAC.Info.AN=126704;ExAC.Info.AF=0.331;ExAC.Info.AC_Het=41411;ExAC.Info.AC_Hom=127;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.817A>C;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17030519">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,298,4439:127	0|1:90,24:114:99:768,0,3737:127	0|1:70,13:83:99:419,0,2894:127
1	17030590	.	G	A	3257.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=416;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs590170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=590170" target="_blank">rs590170</a>;ExAC.Info.AC=43295;ExAC.Info.AN=126702;ExAC.Info.AF=0.342;ExAC.Info.AC_Het=42391;ExAC.Info.AC_Hom=157;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.746C>T;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17030590">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4685:127	0|1:108,44:152:99:1027,0,3259:127	0|1:97,30:127:99:622,0,2993:127
1	17033758	.	A	G	14668.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=305;MQ=65.68;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1736691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1736691" target="_blank">rs1736691</a>;ExAC.Info.AC=63082;ExAC.Info.AN=124678;ExAC.Info.AF=0.506;ExAC.Info.AC_Het=38068;ExAC.Info.AC_Hom=3769;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.696+25T>C;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17033758">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,56:86:99:1656,0,860:127	0/1:40,73:113:99:2163,0,1054:127	0/1:21,85:106:99:2533,0,468:127
1	17033805	.	C	T	12787.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=433;MQ=65.48;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs59259153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59259153" target="_blank">rs59259153</a>;ExAC.Info.AC=40818;ExAC.Info.AN=126240;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=38920;ExAC.Info.AC_Hom=27;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.674G>A;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17033805">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,88:137:99:2165,0,1285:127	0/1:106,46:152:99:912,0,3296:127	0/1:55,89:144:99:2409,0,1492:127
1	17033854	.	C	T	15210.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=341;MQ=66.14;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2476568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2476568" target="_blank">rs2476568</a>;ExAC.Info.AC=64528;ExAC.Info.AN=125180;ExAC.Info.AF=0.515;ExAC.Info.AC_Het=45433;ExAC.Info.AC_Hom=3665;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.625G>A;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17033854">View</a>	GT:AD:DP:GQ:PL:TP	0/1:50,67:117:99:1943,0,1265:127	0/1:50,60:110:99:1767,0,1338:127	0/1:19,95:114:99:2875,0,343:127
1	17034041	.	T	C	5464.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=53;MQ=69.22;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2743505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2743505" target="_blank">rs2743505</a>;ExAC.Info.AC=62534;ExAC.Info.AN=85294;ExAC.Info.AF=0.733;ExAC.Info.AC_Het=5525;ExAC.Info.AC_Hom=5816;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.563A>G;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.563A>G;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17034041">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,8:8:24:327,24,0:59	1|1:0,25:25:75:974,75,0:59	1|1:0,20:20:60:827,60,0:59
1	17034110	.	C	T	150.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=35;MQ=69.74;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs55767123;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55767123" target="_blank">rs55767123</a>;ExAC.Info.AC=1697;ExAC.Info.AN=119202;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1351;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.494G>A;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17034110">View</a>	GT:AD:DP:GQ:PL:TP	0|0:12,0:12:36:0,36,375:32	0|1:7,4:11:94:94,0,207:32	0|0:12,0:12:36:0,36,448:32
1	17034125	.	C	CAGCT	1334.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=34;MQ=69.83;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs141324796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141324796" target="_blank">rs141324796</a>;ExAC.Info.AC=23293;ExAC.Info.AN=118134;ExAC.Info.AF=0.197;ExAC.Info.AC_Het=18105;ExAC.Info.AC_Hom=12;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.478_479insAGCT;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17034125">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,7:10:99:277,0,105:45	0/1:6,3:9:99:108,0,243:45	0/1:13,2:15:45:45,0,529:45
1	17034250	.	C	G	912.25	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=15;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs61773400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61773400" target="_blank">rs61773400</a>;ExAC.Info.AC=16361;ExAC.Info.AN=50798;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=2766;ExAC.Info.AC_Hom=803;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.382-28G>C;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17034250">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:12:133,12,0:9	1|0:4,3:7:67:90,0,67:9	1|1:0,4:4:12:144,12,0:9
1	17034268	.	G	A	88.37	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=11;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs55732718;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55732718" target="_blank">rs55732718</a>;ExAC.Info.AC=3351;ExAC.Info.AN=73592;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=846;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.382-46C>T;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17034268">View</a>	GT:AD:DP:GQ:PL:TP	0|0:3,0:3:9:0,9,106:5	0|1:3,3:6:62:62,0,107:5	0|0:2,0:2:6:0,6,87:5
1	17034455	.	CGCGCGCGT	C	4762.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=127;MQ=69.23;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs140689885;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140689885" target="_blank">rs140689885</a>;ExAC.Info.AC=20012;ExAC.Info.AN=124918;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=19412;ExAC.Info.AC_Hom=2;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.305_312delACGCGCGC;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17034455">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,14:41:99:508,0,1608:127	0/1:35,14:49:99:483,0,2036:127	0/1:22,15:37:99:564,0,1201:127
1	17044662	.	G	C	3101.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=82;MQ=65.30;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs13374664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13374664" target="_blank">rs13374664</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.194+1797C>G;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17044662">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,12:25:99:314,0,425:89	0/1:22,12:34:99:318,0,630:89	0/1:5,18:23:89:604,0,89:89
1	17044695	.	A	G	1490.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=52;MQ=66.80;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2773186;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2773186" target="_blank">rs2773186</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.194+1764T>C;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17044695">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,9:16:99:254,0,235:67	0/1:9,10:19:99:325,0,262:67	0/1:13,4:17:67:67,0,442:67
1	17046456	.	T	C	14152.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=408;MQ=69.90;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3856292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3856292" target="_blank">rs3856292</a>;ExAC.Info.AC=55726;ExAC.Info.AN=126690;ExAC.Info.AF=0.440;ExAC.Info.AC_Het=55081;ExAC.Info.AC_Hom=227;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.194+3A>G;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17046456">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,65:128:99:1938,0,1660:127	0/1:96,48:144:99:1233,0,2800:127	0/1:35,101:136:99:3196,0,744:127
1	17046549	.	G	A	942.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=403;MQ=69.83;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1755332;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1755332" target="_blank">rs1755332</a>;ExAC.Info.AC=56833;ExAC.Info.AN=126652;ExAC.Info.AF=0.449;ExAC.Info.AC_Het=54806;ExAC.Info.AC_Hom=883;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.104C>T;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17046549">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,375,4207:127	0|1:115,24:139:99:490,0,3402:127	0|0:139,0:139:99:0,417,4738:127
1	17046595	.	T	C	18179.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=539;MQ=69.84;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3856293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3856293" target="_blank">rs3856293</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.58A>G;snpeff.Gene_Name=ESPNP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000492551;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESPNP" target="_blank">ESPNP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESPNP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17046595">View</a>	GT:AD:DP:GQ:PL:TP	0/1:81,90:171:99:2369,0,3273:127	0/1:132,60:192:99:1478,0,5215:127	0/1:45,131:176:99:3695,0,1811:127
1	17083776	.	C	A	2229.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=131;MQ=46.73;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56318124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56318124" target="_blank">rs56318124</a>;cosmic68.Histology_subtype=endometrioid_carcinoma;ExAC.Info.AC=27857;ExAC.Info.AN=125302;ExAC.Info.AF=0.222;ExAC.Info.AC_Het=24724;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2006G>T;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2099G>T_p.Arg700Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.2099G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17083776">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,7:42:99:116,0,1155:116	0/1:15,16:31:99:488,0,544:116	0/1:37,21:58:99:555,0,1154:116
1	17083778	.	C	T	1089.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=131;MQ=46.90;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs28455793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28455793" target="_blank">rs28455793</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=20603;ExAC.Info.AN=125256;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=18544;ExAC.Info.AC_Hom=42;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2004G>A;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2097G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.2097G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17083778">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,13:44:99:333,0,972:52	1|0:20,11:31:99:283,0,759:52	0|0:53,3:56:52:0,52,1939:52
1	17083807	.	T	C	5319.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=127;MQ=48.41;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9286084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9286084" target="_blank">rs9286084</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=75190;ExAC.Info.AN=121866;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=27261;ExAC.Info.AC_Hom=10862;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1975A>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2068A>G_p.Thr690Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.2068A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17083807">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,17:41:99:543,0,614:78	1|1:0,25:25:78:930,78,0:78	0|1:25,36:61:99:1198,0,640:78
1	17083808	.	G	A	1264.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=129;MQ=48.35;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs140260478;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140260478" target="_blank">rs140260478</a>;ExAC.Info.AC=8614;ExAC.Info.AN=122598;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=6759;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1974C>T;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2067C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.2067C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17083808">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,7:42:99:186,0,1614:82	0/1:23,3:26:82:82,0,923:82	0/1:48,13:61:99:401,0,2286:82
1	17083816	.	G	A	1307.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=123;MQ=47.75;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbSNP139.ID=rs11260920;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11260920" target="_blank">rs11260920</a>;ExAC.Info.AC=9709;ExAC.Info.AN=122758;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=7248;ExAC.Info.AC_Hom=3;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1966C>T;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2059C>T_p.Arg687X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.2059C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17083816">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,7:40:99:189,0,1543:53	0/1:20,3:23:53:53,0,863:53	0/1:46,14:60:99:433,0,2253:53
1	17083837	.	T	C	167.54	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=108;MQ=48.21;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7798;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7798" target="_blank">rs7798</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=12273;ExAC.Info.AN=121772;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=8659;ExAC.Info.AC_Hom=499;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1945A>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2038A>G_p.Lys680Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.2038A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17083837">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,5:31:91:91,0,802:77	1|0:19,4:23:58:58,0,587:77	0|0:52,2:54:78:0,78,1772:77
1	17084152	.	C	T	617.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1256;MQ=45.76;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs202123117;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202123117" target="_blank">rs202123117</a>;cosmic68.Histology_subtype=acute_myeloid_leukaemia;ExAC.Info.AC=6784;ExAC.Info.AN=126698;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=6854;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1754G>A;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.1754G>A;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1847G>A_p.Gly616Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1847G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17084152">View</a>	GT:AD:DP:GQ:PL:TP	0|0:403,0:403:99:0,1210,13355:127	0|0:431,1:432:99:0,1287,14305:127	0|1:373,48:421:99:327,0,11148:127
1	17084510	.	G	A	132.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=441;MQ=50.87;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61769731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61769731" target="_blank">rs61769731</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=22937;ExAC.Info.AN=126680;ExAC.Info.AF=0.181;ExAC.Info.AC_Het=21237;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1573C>T;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1666C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1666C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17084510">View</a>	GT:AD:DP:GQ:PL:TP	0|0:140,0:140:99:0,421,4819:84	0|0:151,0:151:99:0,453,5208:84	0|1:135,15:150:85:85,0,4125:84
1	17084536	.	TGGAACA	T	71.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=367;MQ=45.89;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs142741624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142741624" target="_blank">rs142741624</a>;ExAC.Info.AC=18428;ExAC.Info.AN=126570;ExAC.Info.AF=0.146;ExAC.Info.AC_Het=17628;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1541_1546delTGTTCC;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1634_1639del6_p.Leu545_Phe546del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1634_1639del6+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17084536">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,324,5276:59	0|0:129,0:129:99:0,387,6292:59	0|1:120,10:130:59:59,0,5273:59
1	17084670	.	A	G	1016.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=308;MQ=50.20;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs199536872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199536872" target="_blank">rs199536872</a>;ExAC.Info.AC=15341;ExAC.Info.AN=126248;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=12748;ExAC.Info.AC_Hom=159;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1499+41T>C;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1592+41T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1592+41T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17084670">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,13:70:99:234,0,1669:127	1|0:75,19:94:99:345,0,2014:127	0|0:136,8:144:99:0,155,3952:127
1	17084948	.	A	C	194.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=308;MQ=52.76;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs199741699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199741699" target="_blank">rs199741699</a>;ExAC.Info.AC=38737;ExAC.Info.AN=126548;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=36568;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1421+13T>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1514+13T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1514+13T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17084948">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,283,3703:116	0|0:123,0:123:99:0,370,4721:116	0|1:85,11:96:99:116,0,3150:116
1	17084968	.	G	C	16591.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=396;MQ=54.30;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2761533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2761533" target="_blank">rs2761533</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=59123;ExAC.Info.AN=126618;ExAC.Info.AF=0.467;ExAC.Info.AC_Het=58359;ExAC.Info.AC_Hom=2;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1414C>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1507C>G_p.Arg503Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1507C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17084968">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,70:111:99:2001,0,965:127	0/1:77,83:160:99:2394,0,2041:127	0/1:54,71:125:99:2091,0,1520:127
1	17085165	.	G	C	17155.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=192;MQ=52.89;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2490828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2490828" target="_blank">rs2490828</a>;ExAC.Info.AC=106787;ExAC.Info.AN=116876;ExAC.Info.AF=0.914;ExAC.Info.AC_Het=7091;ExAC.Info.AC_Hom=24314;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1300+6C>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.1301C>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1394-84C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1394-84C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085165">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2323,187,0:127	1|1:0,84:84:99:3185,253,0:127	1|1:0,47:47:99:1742,144,0:127
1	17085265	.	T	C	712.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=309;MQ=64.02;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2490829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2490829" target="_blank">rs2490829</a>;ExAC.Info.AC=34703;ExAC.Info.AN=111302;ExAC.Info.AF=0.312;ExAC.Info.AC_Het=14826;ExAC.Info.AC_Hom=2105;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1264+33A>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1393+33A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1393+33A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085265">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,4:104:78:0,78,6002:77	0|0:133,6:139:88:0,88,8035:77	0|1:54,12:66:99:375,0,3250:77
1	17085267	.	A	G	712.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=308;MQ=64.25;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2077142;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2077142" target="_blank">rs2077142</a>;ExAC.Info.AC=34573;ExAC.Info.AN=111258;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=14768;ExAC.Info.AC_Hom=2146;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1264+31T>C;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1393+31T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1393+31T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085267">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,5:104:78:0,78,6002:77	0|0:133,7:140:99:0,119,8070:77	0|1:52,12:64:99:375,0,3250:77
1	17085412	.	C	T	15124.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=715;MQ=52.15;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs872964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=872964" target="_blank">rs872964</a>;ExAC.Info.AC=58835;ExAC.Info.AN=126678;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=58140;ExAC.Info.AC_Hom=41;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1152G>A;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1279G>A_p.Ala427Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1279G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085412">View</a>	GT:AD:DP:GQ:PL:TP	0/1:127,100:227:99:2374,0,4427:127	0/1:155,107:262:99:2594,0,5427:127	0/1:144,82:226:99:1860,0,5831:127
1	17085427	.	T	C	32936.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=687;MQ=52.96;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2002186;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2002186" target="_blank">rs2002186</a>;ExAC.Info.AC=62181;ExAC.Info.AN=126694;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=59467;ExAC.Info.AC_Hom=1143;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1137A>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1264A>G_p.Ile422Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1264A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085427">View</a>	GT:AD:DP:GQ:PL:TP	0/1:71,142:213:99:5058,0,1673:127	0/1:83,168:251:99:5916,0,1973:127	0/1:120,103:223:99:3709,0,3417:127
1	17085542	.	G	A	3699.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=220;MQ=54.37;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2261754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2261754" target="_blank">rs2261754</a>;ExAC.Info.AC=22708;ExAC.Info.AN=126502;ExAC.Info.AF=0.180;ExAC.Info.AC_Het=20401;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1130+19C>T;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1161-12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1161-12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085542">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,17:48:99:436,0,1214:127	0/1:67,24:91:99:591,0,2547:127	0/1:56,25:81:99:602,0,2176:127
1	17085564	.	A	G	5418.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=186;MQ=54.79;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3851921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3851921" target="_blank">rs3851921</a>;ExAC.Info.AC=19807;ExAC.Info.AN=126562;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=17737;ExAC.Info.AC_Hom=17;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1127T>C;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1157T>C_p.Leu386Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1157T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085564">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,16:43:99:540,0,792:127	0/1:49,27:76:99:924,0,1676:127	0/1:42,25:67:99:894,0,1440:127
1	17085589	.	AGCGCTG	A	1369.29	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=169;MQ=56.25;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs371449598;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371449598" target="_blank">rs371449598</a>;ExAC.Info.AC=460;ExAC.Info.AN=126414;ExAC.Info.AF=3.639e-03;ExAC.Info.AC_Het=6204;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1096_1101delCAGCGC;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1126_1131del6_p.Gln376_Arg377del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1126_1131del6+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085589">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,8:45:99:212,0,1526:45	0/1:50,14:64:99:416,0,2042:45	0/1:55,5:60:45:45,0,2264:45
1	17085671	.	C	G	1884.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=126;MQ=53.51;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3863806;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3863806" target="_blank">rs3863806</a>;ExAC.Info.AC=54362;ExAC.Info.AN=125330;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=53067;ExAC.Info.AC_Hom=21;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1028-8G>C;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.1028G>C;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1058-8G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1058-8G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085671">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,12:37:99:360,0,976:127	0/1:45,8:53:99:171,0,1897:127	0/1:22,14:36:99:425,0,912:127
1	17085677	.	G	A	1353.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=113;MQ=54.16;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3863805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3863805" target="_blank">rs3863805</a>;ExAC.Info.AC=46989;ExAC.Info.AN=125600;ExAC.Info.AF=0.374;ExAC.Info.AC_Het=44758;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1028-14C>T;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1058-14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1058-14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085677">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,7:30:99:222,0,969:127	0/1:43,7:50:99:155,0,1832:127	0/1:25,8:33:99:287,0,955:127
1	17085712	.	C	T	945.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=114;MQ=52.35;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3863803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3863803" target="_blank">rs3863803</a>;ExAC.Info.AC=48885;ExAC.Info.AN=126154;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=47194;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1028-49G>A;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1058-49G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1058-49G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085712">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,9:30:99:201,0,728:127	0/1:46,9:55:99:129,0,1280:127	0/1:22,7:29:99:157,0,697:127
1	17085795	.	G	T	127.4	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=131;MQ=55.42;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1057379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057379" target="_blank">rs1057379</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=25734;ExAC.Info.AN=126568;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=22972;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.996C>A;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1026C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.1026C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085795">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,1:44:99:0,99,1563:9	0|1:43,8:51:82:82,0,1393:9	0|0:32,4:36:9:0,9,1071:9
1	17085834	.	G	T	11626.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=142;MQ=62.45;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2005622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2005622" target="_blank">rs2005622</a>;ExAC.Info.AC=99683;ExAC.Info.AN=126294;ExAC.Info.AF=0.789;ExAC.Info.AC_Het=24970;ExAC.Info.AC_Hom=34928;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.957C>A;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.987C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.987C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085834">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1632,153,0:113	1|1:0,53:53:99:1724,159,0:113	1|1:0,38:38:99:1214,114,0:113
1	17085908	.	C	G	580.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=125;MQ=65.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1805293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805293" target="_blank">rs1805293</a>;ExAC.Info.AC=30241;ExAC.Info.AN=126220;ExAC.Info.AF=0.240;ExAC.Info.AC_Het=27301;ExAC.Info.AC_Hom=344;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.897-14G>C;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.927-14G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.927-14G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085908">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1829:127	0|1:28,6:34:99:135,0,873:127	0|1:28,7:35:99:175,0,791:127
1	17085995	.	G	GC	903.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=32;MQ=58.60;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.896+19_896+18insG;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.901dupG;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.901dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17085995">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,7:14:99:171,0,161:85	0/1:4,6:10:91:124,0,91:85	0/1:4,4:8:87:98,0,87:85
1	17086052	.	T	C	751.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=10;MQ=49.84;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1057286;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057286" target="_blank">rs1057286</a>;ExAC.Info.AC=110769;ExAC.Info.AN=112250;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=649;ExAC.Info.AC_Hom=32937;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.858A>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.845A>G_p.His282Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.845A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17086052">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,6:6:18:199,18,0:3	1|1:0,1:1:3:36,3,0:3	1|1:0,3:3:9:108,9,0:3
1	17086217	.	C	G	149.33	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=23;MQ=36.64;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs367801802;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=367801802" target="_blank">rs367801802</a>;ExAC.Info.AC=1251;ExAC.Info.AN=126496;ExAC.Info.AF=9.890e-03;ExAC.Info.AC_Het=1127;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.731-36G>C;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.716-36G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.716-36G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17086217">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,1:4:23:23,0,82:7	0/1:7,1:8:7:7,0,218:7	0/1:8,3:11:60:60,0,205:7
1	17086236	.	G	C	146.93	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=23;MQ=36.96;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs371373882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371373882" target="_blank">rs371373882</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.731-55C>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.716-55C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.716-55C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17086236">View</a>	GT:AD:DP:GQ:PL:TP	0|0:4,0:4:12:0,12,129:12	0|1:5,4:9:92:92,0,144:12	0|0:10,0:10:30:0,30,297:12
1	17086941	.	C	T	1946.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=414;MQ=51.39;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28462251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28462251" target="_blank">rs28462251</a>;cosmic68.Histology_subtype=endometrioid_carcinoma;ExAC.Info.AC=16636;ExAC.Info.AN=125660;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=14628;ExAC.Info.AC_Hom=2;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.398G>A;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.383G>A_p.Arg128His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.383G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17086941">View</a>	GT:AD:DP:GQ:PL:TP	0|1:127,23:150:99:393,0,3957:111	1|0:116,28:144:99:618,0,3731:111	0|0:113,7:120:99:0,112,3735:111
1	17087072	.	G	A	14712.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=813;MQ=62.14;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs79486936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79486936" target="_blank">rs79486936</a>;ExAC.Info.AC=24857;ExAC.Info.AN=126700;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=24568;ExAC.Info.AC_Hom=3;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.345C>T;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.339-87C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.339-87C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087072">View</a>	GT:AD:DP:GQ:PL:TP	0/1:188,84:272:99:2049,0,5477:127	0/1:179,107:286:99:2766,0,5259:127	0/1:188,67:255:99:1499,0,5651:127
1	17087244	.	AC	A	490.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=372;MQ=66.02;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs58502471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58502471" target="_blank">rs58502471</a>;ExAC.Info.AC=34811;ExAC.Info.AN=126688;ExAC.Info.AF=0.275;ExAC.Info.AC_Het=34038;ExAC.Info.AC_Hom=93;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.238+11delG;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.338+1delG;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=ESS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.338+1delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087244">View</a>	GT:AD:DP:GQ:PL:TP	0|0:148,0:148:99:0,448,5610:81	0|1:121,15:136:81:81,0,4028:81	0|1:74,14:88:99:189,0,2416:81
1	17087262	.	C	T	9249.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=462;MQ=66.64;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2926375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2926375" target="_blank">rs2926375</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=45940;ExAC.Info.AN=126700;ExAC.Info.AF=0.363;ExAC.Info.AC_Het=45322;ExAC.Info.AC_Hom=57;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.232G>A;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.322G>A_p.Glu108Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.322G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087262">View</a>	GT:AD:DP:GQ:PL:TP	0/1:99,76:175:99:1834,0,3087:127	0/1:113,60:173:99:1425,0,3552:127	0/1:87,27:114:99:639,0,2761:127
1	17087292	.	A	G	2195.0	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=537;MQ=67.42;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2179161;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2179161" target="_blank">rs2179161</a>;ExAC.Info.AC=10038;ExAC.Info.AN=126702;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=8946;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.202T>C;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.292T>C_p.Trp98Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.292T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087292">View</a>	GT:AD:DP:GQ:PL:TP	0|0:185,9:194:99:0,206,8274:127	0|1:187,20:207:99:310,0,7703:127	0|1:118,18:136:99:485,0,4837:127
1	17087299	.	T	C	2684.0	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=556;MQ=67.99;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2179162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2179162" target="_blank">rs2179162</a>;ExAC.Info.AC=15896;ExAC.Info.AN=126702;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=14837;ExAC.Info.AC_Hom=4;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.195A>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.285A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.285A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087299">View</a>	GT:AD:DP:GQ:PL:TP	0|0:201,9:210:99:0,161,8675:127	0|1:182,22:204:99:407,0,7879:127	0|1:120,22:142:99:584,0,5126:127
1	17087305	.	G	C	3251.0	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=552;MQ=67.74;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12046578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12046578" target="_blank">rs12046578</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=9593;ExAC.Info.AN=126702;ExAC.Info.AF=0.076;ExAC.Info.AC_Het=8787;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.189C>G;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.279C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.279C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087305">View</a>	GT:AD:DP:GQ:PL:TP	0|0:192,13:205:56:0,56,8199:56	0|1:184,29:213:99:582,0,7666:56	0|1:111,23:134:99:614,0,4757:56
1	17087365	.	C	G	26162.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=484;MQ=65.77;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2446556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2446556" target="_blank">rs2446556</a>;ExAC.Info.AC=69996;ExAC.Info.AN=126704;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=56101;ExAC.Info.AC_Hom=6551;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.129G>C;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.219G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.219G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087365">View</a>	GT:AD:DP:GQ:PL:TP	0/1:40,136:176:99:4509,0,823:127	0/1:57,133:190:99:4225,0,1407:127	0/1:47,71:118:99:2233,0,1174:127
1	17087432	.	G	T	3422.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=423;MQ=66.24;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2446554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2446554" target="_blank">rs2446554</a>;ExAC.Info.AC=12364;ExAC.Info.AN=126704;ExAC.Info.AF=0.098;ExAC.Info.AC_Het=11645;ExAC.Info.AC_Hom=4;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.125+18C>A;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.215+18C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.215+18C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087432">View</a>	GT:AD:DP:GQ:PL:TP	0/1:139,28:167:99:527,0,4427:53	0/1:132,14:146:53:53,0,4353:53	0/1:88,22:110:99:523,0,2733:53
1	17087521	.	G	A	4291.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=433;MQ=59.23;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11589598;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11589598" target="_blank">rs11589598</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37146;ExAC.Info.AN=126700;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=35942;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.54C>T;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.144C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.144C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087521">View</a>	GT:AD:DP:GQ:PL:TP	0/1:117,41:158:99:935,0,4198:127	0/1:116,45:161:99:992,0,4043:127	0/1:94,20:114:99:321,0,3380:127
1	17087531	.	G	A	579.07	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=462;MQ=59.22;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=1519;ExAC.Info.AN=126698;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1416;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.44C>T;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.134C>T_p.Ala45Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.134C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087531">View</a>	GT:AD:DP:GQ:PL:TP	0|1:145,21:166:99:245,0,5433:104	1|0:151,16:167:24:24,0,5633:104	0|0:129,0:129:99:0,388,5157:104
1	17087541	.	GGTGCT	G	11197.29	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=459;MQ=59.17;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs113982165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113982165" target="_blank">rs113982165</a>;ExAC.Info.AC=54038;ExAC.Info.AN=126704;ExAC.Info.AF=0.426;ExAC.Info.AC_Het=53370;ExAC.Info.AC_Hom=8;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.33+1_34-1delAGCAC;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.34_38delAGCAC;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.34_38delAGCAC;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.34_38delAGCAC;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389184;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.119_123del5;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.119_123del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087541">View</a>	GT:AD:DP:GQ:PL:TP	0/1:123,44:167:99:1439,0,5011:127	0/1:121,46:167:99:1563,0,4918:127	0/1:83,42:125:99:1487,0,3340:127
1	17087582	.	G	A	14849.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=407;MQ=58.89;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10907280;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10907280" target="_blank">rs10907280</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=59683;ExAC.Info.AN=126704;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=59021;ExAC.Info.AC_Hom=74;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.83C>T_p.Ser28Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.83C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087582">View</a>	GT:AD:DP:GQ:PL:TP	0/1:71,77:148:99:2072,0,1940:127	0/1:68,77:145:99:2527,0,1783:127	0/1:50,64:114:99:1898,0,1361:127
1	17087593	.	C	T	3078.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=365;MQ=59.21;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12145944;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12145944" target="_blank">rs12145944</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=13772;ExAC.Info.AN=126704;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=12035;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.72G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.72G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17087593">View</a>	GT:AD:DP:GQ:PL:TP	0/1:109,17:126:99:166,0,3865:127	0/1:92,38:130:99:861,0,3491:127	0/1:91,18:109:99:252,0,3235:127
1	17090902	.	A	AT	1295.95	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=331;MQ=45.46;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ExAC.Info.AC=5385;ExAC.Info.AN=21436;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=5175;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MST1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1L" target="_blank">MST1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000442552;SAVANT_GENE=MST1P9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MST1P9" target="_blank">MST1P9</a>;SAVANT_INFO=-/7.3kb/16/2.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.67+6dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MST1P9+c.67+6dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17090902">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,4:99:99:0,155,3223:127	0|1:116,18:134:99:227,0,3700:127	0|1:81,17:98:99:342,0,2567:127
1	17198518	.	T	G	95.11	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=89;MQ=49.61;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs141922545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141922545" target="_blank">rs141922545</a>;ExAC.Info.AC=8739;ExAC.Info.AN=15244;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=369;ExAC.Info.AC_Hom=867;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1079T>G;snpeff.Gene_Name=U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=U1" target="_blank">U1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438002;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=U1" target="_blank">U1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356370;SAVANT_GENE=BX284668.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BX2846681" target="_blank">BX2846681</a>;SAVANT_INFO=-/2.4kb/2/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.126A>C_p.Lys42Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BX2846681+c.126A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17198518">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1736:63	0|1:0,2:2:1:70,6,0:63	0|0:34,0:34:99:0,102,1224:63
1	17248500	.	A	G	5012.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6683035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6683035" target="_blank">rs6683035</a>;ExAC.Info.AC=24910;ExAC.Info.AN=81088;ExAC.Info.AF=0.307;ExAC.Info.AC_Het=8485;ExAC.Info.AC_Hom=1377;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=14;snpeff.Amino_Acid_Change=c.-14A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-14A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.-14A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17248500">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,15:40:99:409,0,777:83	1|1:0,46:46:99:1581,138,0:83	0|0:28,0:28:84:0,84,987:83
1	17248532	.	A	G	14005.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6586566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6586566" target="_blank">rs6586566</a>;ExAC.Info.AC=86952;ExAC.Info.AN=87024;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=12738;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg7Gly/c.19A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.19A>G_p.Arg7Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.19A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17248532">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1814,150,0:104	1|1:0,62:62:99:2161,186,0:104	1|1:0,35:35:99:1360,105,0:104
1	17251055	.	C	T	3800.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=64;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs9435703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9435703" target="_blank">rs9435703</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.351+81C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.351+81C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.351+81C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17251055">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,8:19:99:253,0,308:81	1|1:0,27:27:81:995,81,0:81	0|1:8,10:18:99:343,0,240:81
1	17256406	.	G	A	219.44	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=16;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72644305;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72644305" target="_blank">rs72644305</a>;ExAC.Info.AC=2;ExAC.Info.AN=125014;ExAC.Info.AF=1.600e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.417G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.417G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.417G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.417G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.417G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgA;snpeff.Amino_Acid_Change=p.Arg139Arg/c.417G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.417G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.417G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17256406">View</a>	GT:AD:DP:GQ:PL:TP	0|0:6,0:6:18:0,18,255:9	0|1:3,4:7:99:128,0,100:9	0|0:3,0:3:9:0,9,131:9
1	17263290	.	G	A	538.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs57442576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57442576" target="_blank">rs57442576</a>;ExAC.Info.AC=11457;ExAC.Info.AN=126442;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=11066;ExAC.Info.AC_Hom=123;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg372Gln/c.1115G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1115G>A_p.Arg372Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.1115G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17263290">View</a>	GT:AD:DP:GQ:PL:TP	0|0:15,0:15:45:0,45,542:44	0|0:24,0:24:72:0,72,790:44	0|1:7,11:18:99:288,0,228:44
1	17265327	.	A	G	2002.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4269813;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4269813" target="_blank">rs4269813</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1375-77A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1375-77A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.1375-77A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17265327">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,19:40:99:476,0,591:99	0|0:36,1:37:99:0,100,1123:99	1|0:19,10:29:99:229,0,541:99
1	17267302	.	A	G	910.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=53;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6586577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6586577" target="_blank">rs6586577</a>;ExAC.Info.AC=4239;ExAC.Info.AN=18362;ExAC.Info.AF=0.231;ExAC.Info.AC_Het=1620;ExAC.Info.AC_Hom=45;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1808+714A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1809A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1809A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1809A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1809A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1809A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1809A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1809A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1809A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1809A>G;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1808+714A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.1808+714A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17267302">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,5:18:99:156,0,359:48	0|0:16,0:16:48:0,48,587:48	1|0:10,9:19:99:229,0,299:48
1	17273493	.	A	C	412.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=28;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7537563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7537563" target="_blank">rs7537563</a>;ExAC.Info.AC=22904;ExAC.Info.AN=83046;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=8185;ExAC.Info.AC_Hom=559;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2514+7A>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2515A>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2515A>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2515A>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2515A>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2515A>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2515A>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2515A>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2515A>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2515A>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2515A>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2514+7A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.2514+7A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17273493">View</a>	GT:AD:DP:GQ:PL:TP	1|0:2,3:5:58:73,0,58:38	0|0:13,0:13:39:0,39,416:38	1|0:8,2:10:49:49,0,246:38
1	17281759	.	C	CG	2299.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs151046905;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=151046905" target="_blank">rs151046905</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3466-47_3466-46insG;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3466_3467insG;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3466_3467insG;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3466_3467insG;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3466_3467insG;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3466_3467insG;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3466_3467insG;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3466-41dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.3466-41dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17281759">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,19:39:99:460,0,523:90	0|0:30,0:30:90:0,90,918:90	1|0:28,18:46:99:409,0,711:90
1	17282573	.	G	A	3000.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2273114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273114" target="_blank">rs2273114</a>;ExAC.Info.AC=6108;ExAC.Info.AN=69716;ExAC.Info.AF=0.088;ExAC.Info.AC_Het=3154;ExAC.Info.AC_Hom=357;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3786G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3786G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3786G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3786G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3786G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3786G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly1262Gly/c.3786G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.3786G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.3786G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17282573">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,24:46:99:675,0,621:101	0|0:34,0:34:99:0,102,1336:101	1|0:13,20:33:99:590,0,405:101
1	17285298	.	C	T	877.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=46;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41300134;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41300134" target="_blank">rs41300134</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4032+53C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4033C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4033C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4033C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4033C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4033C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4033C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.4032+53C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.4032+53C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17285298">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,3:8:99:101,0,147:68	0|0:23,0:23:69:0,69,871:68	1|0:8,7:15:99:188,0,272:68
1	17287414	.	T	C	484.69	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=9;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2273113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273113" target="_blank">rs2273113</a>;ExAC.Info.AC=6686;ExAC.Info.AN=28558;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=2154;ExAC.Info.AC_Hom=766;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4194T>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4194T>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4194T>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4194T>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4194T>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4194T>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala1398Ala/c.4194T>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.4194T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.4194T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17287414">View</a>	GT:AD:DP:GQ:PL:TP	0|1:1,1:2:33:39,0,33:7	1|1:0,3:3:9:114,9,0:7	0|0:4,0:4:12:0,12,161:7
1	17287639	.	C	T	415.07	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=21;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2273112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273112" target="_blank">rs2273112</a>;ExAC.Info.AC=1430;ExAC.Info.AN=19398;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=99;ExAC.Info.AC_Hom=18;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4405+14C>T;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.4405+14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.4405+14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17287639">View</a>	GT:AD:DP:GQ:PL:TP	1|0:4,4:8:69:69,0,120:24	0|0:8,0:8:24:0,24,271:24	1|0:2,3:5:66:76,0,66:24
1	17292571	.	G	A	10068.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72639732;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72639732" target="_blank">rs72639732</a>;ExAC.Info.AC=138;ExAC.Info.AN=126698;ExAC.Info.AF=1.089e-03;ExAC.Info.AC_Het=131;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4653G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4653G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4653G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4653G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4653G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser1551Ser/c.4653G>A;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.4653G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.4653G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17292571">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,63:121:99:1901,0,1721:127	1|0:80,63:143:99:1718,0,2268:127	0|0:121,0:121:99:0,364,4260:127
1	17295679	.	T	C	14510.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4920574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4920574" target="_blank">rs4920574</a>;ExAC.Info.AC=114550;ExAC.Info.AN=125866;ExAC.Info.AF=0.910;ExAC.Info.AC_Het=8999;ExAC.Info.AC_Hom=48688;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala1715Ala/c.5145T>C;snpeff.Amino_Acid_length=2017;snpeff.Gene_Name=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375541;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375541;SAVANT_GENE=CROCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CROCC" target="_blank">CROCC</a>;SAVANT_INFO=+/51.0kb/37/6.6kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.5145T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CROCC+c.5145T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17295679">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2159,174,0:127	1|1:0,71:71:99:2479,213,0:127	1|0:25,30:55:99:884,0,732:127
1	17301672	.	T	C	8482.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs761423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=761423" target="_blank">rs761423</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.448+92A>G;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=MFAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFAP2" target="_blank">MFAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375535;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375535;SAVANT_GENE=MFAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFAP2" target="_blank">MFAP2</a>;SAVANT_INFO=-/6.3kb/9/1.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.448+92A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MFAP2+c.448+92A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17301672">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,41:73:99:1225,0,902:127	1|1:0,71:71:99:2486,213,0:127	0|0:78,0:78:99:0,234,2779:127
1	17301780	.	A	G	8060.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs761422;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=761422" target="_blank">rs761422</a>;ExAC.Info.AC=55851;ExAC.Info.AN=126700;ExAC.Info.AF=0.441;ExAC.Info.AC_Het=30521;ExAC.Info.AC_Hom=12544;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His144His/c.432T>C;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=MFAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFAP2" target="_blank">MFAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375535;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375535;SAVANT_GENE=MFAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFAP2" target="_blank">MFAP2</a>;SAVANT_INFO=-/6.3kb/9/1.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.432T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MFAP2+c.432T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17301780">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,37:83:99:1078,0,1185:127	1|1:0,74:74:99:2605,222,0:127	0|0:65,0:65:99:0,195,2220:127
1	17303589	.	C	T	23066.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2235932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2235932" target="_blank">rs2235932</a>;ExAC.Info.AC=64241;ExAC.Info.AN=126674;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=29569;ExAC.Info.AC_Hom=17080;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.127+15G>A;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=MFAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFAP2" target="_blank">MFAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375535;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375535;SAVANT_GENE=MFAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFAP2" target="_blank">MFAP2</a>;SAVANT_INFO=-/6.3kb/9/1.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.127+15G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MFAP2+c.127+15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17303589">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3314,288,0:127	1|1:0,102:102:99:3650,306,0:127	1|0:44,46:90:99:1411,0,1301:127
1	17312592	.	G	A	7313.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Kufor-Rakeb_syndrome|_606693_(3)|_?Ceroid_lipofuscinosis|_neuronal|_12|_606693_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs15786;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=15786" target="_blank">rs15786</a>;ExAC.Info.AC=4025;ExAC.Info.AN=122360;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=2043;ExAC.Info.AC_Hom=88;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.187+6985G>A;snpeff.Gene_Name=RP1-37C10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446261;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=124;snpeff.Amino_Acid_Change=c.*124C>T;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326735;SAVANT_GENE=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;SAVANT_INFO=-/25.8kb/29/3.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*124C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP13A2+c.*124C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17312592">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,41:65:99:1394,0,612:127	0|0:126,0:126:99:0,379,4734:127	1|0:47,44:91:99:1486,0,1522:127
1	17312743	.	C	T	7492.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Kufor-Rakeb_syndrome|_606693_(3)|_?Ceroid_lipofuscinosis|_neuronal|_12|_606693_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3170740;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3170740" target="_blank">rs3170740</a>;ExAC.Info.AC=56849;ExAC.Info.AN=125190;ExAC.Info.AF=0.454;ExAC.Info.AC_Het=27081;ExAC.Info.AC_Hom=12925;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000116444;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.187+7136C>T;snpeff.Gene_Name=RP1-37C10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446261;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3516C>T;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3516C>T;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro1172Pro/c.3516G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326735;SAVANT_GENE=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;SAVANT_INFO=-/25.8kb/29/3.8kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.3516G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP13A2+c.3516G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17312743">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116444" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:1028,84,0:83	1|1:2,50:52:99:1574,134,0:83	1|0:12,22:34:99:633,0,307:83
1	17313157	.	G	A	17259.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Kufor-Rakeb_syndrome|_606693_(3)|_?Ceroid_lipofuscinosis|_neuronal|_12|_606693_(3);dbSNP139.ID=rs2076605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076605" target="_blank">rs2076605</a>;ExAC.Info.AC=54273;ExAC.Info.AN=123908;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=21059;ExAC.Info.AC_Hom=9677;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3236-30C>T;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.187+7550G>A;snpeff.Gene_Name=RP1-37C10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446261;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3236G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3236G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326735;SAVANT_GENE=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;SAVANT_INFO=-/25.8kb/29/3.8kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3236-30C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP13A2+c.3236-30C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17313157">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2134,195,0:127	1|1:0,99:99:99:3195,297,0:127	1|0:34,36:70:99:1037,0,976:127
1	17313343	.	G	A	23098.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Kufor-Rakeb_syndrome|_606693_(3)|_?Ceroid_lipofuscinosis|_neuronal|_12|_606693_(3);dbSNP139.ID=rs9435659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9435659" target="_blank">rs9435659</a>;ExAC.Info.AC=58019;ExAC.Info.AN=126526;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=29471;ExAC.Info.AC_Hom=13906;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000116442;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.187+7736G>A;snpeff.Gene_Name=RP1-37C10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446261;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3192G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala1064Ala/c.3192C>T;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326735;SAVANT_GENE=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;SAVANT_INFO=-/25.8kb/29/3.8kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3192C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP13A2+c.3192C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17313343">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116442" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3321,294,0:127	1|1:0,116:116:99:3989,348,0:127	1|0:39,48:87:99:1387,0,925:127
1	17313654	.	C	T	10176.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Kufor-Rakeb_syndrome|_606693_(3)|_?Ceroid_lipofuscinosis|_neuronal|_12|_606693_(3);dbSNP139.ID=rs761421;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=761421" target="_blank">rs761421</a>;ExAC.Info.AC=58070;ExAC.Info.AN=126468;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=29523;ExAC.Info.AC_Hom=13878;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000116439;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.187+8047C>T;snpeff.Gene_Name=RP1-37C10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446261;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970C>T;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val990Val/c.2970G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326735;SAVANT_GENE=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;SAVANT_INFO=-/25.8kb/29/3.8kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.2970G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP13A2+c.2970G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17313654">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116439" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1331,126,0:125	1|1:0,66:66:99:2230,198,0:125	1|0:17,23:40:99:614,0,519:125
1	17314942	.	G	A	23567.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Kufor-Rakeb_syndrome|_606693_(3)|_?Ceroid_lipofuscinosis|_neuronal|_12|_606693_(3);dbSNP139.ID=rs9435662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9435662" target="_blank">rs9435662</a>;ExAC.Info.AC=58007;ExAC.Info.AN=126686;ExAC.Info.AF=0.458;ExAC.Info.AC_Het=29695;ExAC.Info.AC_Hom=14032;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000116435;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.187+9335G>A;snpeff.Gene_Name=RP1-37C10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446261;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2637G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2637G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2637G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2637G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2637G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2637G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2637G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2637G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2637G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2637G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2637G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly879Gly/c.2637C>T;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326735;SAVANT_GENE=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;SAVANT_INFO=-/25.8kb/29/3.8kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2637C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP13A2+c.2637C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17314942">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116435" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:3699,332,0:127	1|1:0,133:133:99:4534,398,0:127	1|0:53,62:115:99:1699,0,1592:127
1	17319011	.	G	A	18775.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Kufor-Rakeb_syndrome|_606693_(3)|_?Ceroid_lipofuscinosis|_neuronal|_12|_606693_(3);dbSNP139.ID=rs2076603;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076603" target="_blank">rs2076603</a>;ExAC.Info.AC=70043;ExAC.Info.AN=126696;ExAC.Info.AF=0.553;ExAC.Info.AC_Het=29798;ExAC.Info.AC_Hom=20079;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000116434;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.188-12127G>A;snpeff.Gene_Name=RP1-37C10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446261;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>A;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro605Pro/c.1815C>T;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-37C103" target="_blank">RP1-37C103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326735;SAVANT_GENE=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;SAVANT_INFO=-/25.8kb/29/3.8kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1815C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP13A2+c.1815C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17319011">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116434" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2638,234,0:127	1|1:0,93:93:99:3351,280,0:127	1|0:44,41:85:99:1252,0,1197:127
1	17323449	.	T	C	6700.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Kufor-Rakeb_syndrome|_606693_(3)|_?Ceroid_lipofuscinosis|_neuronal|_12|_606693_(3);dbSNP139.ID=rs9435736;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9435736" target="_blank">rs9435736</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1195+66A>G;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.188-7689T>C;snpeff.Gene_Name=RP1-37C10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446261;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1196T>C;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1196T>C;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1196T>C;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1196T>C;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1196T>C;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326735;SAVANT_GENE=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;SAVANT_INFO=-/25.8kb/29/3.8kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1195+66A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP13A2+c.1195+66A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17323449">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1307,114,0:101	1|1:0,34:34:99:1321,102,0:101	1|0:16,10:26:99:294,0,505:101
1	17331676	.	A	G	1022.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Kufor-Rakeb_syndrome|_606693_(3)|_?Ceroid_lipofuscinosis|_neuronal|_12|_606693_(3);dbSNP139.ID=rs3738814;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738814" target="_blank">rs3738814</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.289-109T>C;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>G;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>G;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>G;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>G;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>G;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>G;snpeff.Amino_Acid_length=1180;snpeff.Gene_Name=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326735;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326735;SAVANT_GENE=ATP13A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP13A2" target="_blank">ATP13A2</a>;SAVANT_INFO=-/25.8kb/29/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.289-109T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP13A2+c.289-109T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17331676">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1612:125	0|0:60,0:60:99:0,180,2129:125	0|1:22,17:39:99:530,0,757:125
1	17380497	.	G	T	12591.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Paragangliomas_4|_115310_(3)|_Pheochromocytoma|_171300_(3)|_Paraganglioma_and_gastric_stromal_sarcoma|_606864_(3)|_Cowden_syndrome_2|_612359_(3)|_Gastrointestinal_stromal_tumor|_606764_(3);dbSNP139.ID=rs2746462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2746462" target="_blank">rs2746462</a>;ExAC.Info.AC=122311;ExAC.Info.AN=126024;ExAC.Info.AF=0.971;ExAC.Info.AC_Het=3134;ExAC.Info.AC_Hom=55423;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000037717;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.18G>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=SDHB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDHB" target="_blank">SDHB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375499;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.18G>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=SDHB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDHB" target="_blank">SDHB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375499;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcA;snpeff.Amino_Acid_Change=p.Ala6Ala/c.18C>A;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=SDHB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDHB" target="_blank">SDHB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375499;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375499;SAVANT_GENE=SDHB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDHB" target="_blank">SDHB</a>;SAVANT_INFO=-/35.5kb/8/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.18C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDHB+c.18C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17380497">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000037717" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1401,123,0:122	1|1:1,57:58:99:1914,164,0:122	1|1:0,41:41:99:1510,123,0:122
1	17396592	.	G	A	2214.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11581590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11581590" target="_blank">rs11581590</a>;ExAC.Info.AC=5603;ExAC.Info.AN=126702;ExAC.Info.AF=0.044;ExAC.Info.AC_Het=5306;ExAC.Info.AC_Hom=144;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe585Phe/c.1755C>T;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1755C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.1755C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17396592">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2510:127	0|1:50,44:94:99:1126,0,1499:127	0|0:92,0:92:99:0,276,3196:127
1	17396703	.	T	C	21025.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2076595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076595" target="_blank">rs2076595</a>;ExAC.Info.AC=70166;ExAC.Info.AN=126704;ExAC.Info.AF=0.554;ExAC.Info.AC_Het=30155;ExAC.Info.AC_Hom=19989;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu548Leu/c.1644A>G;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1644A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.1644A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17396703">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2402,201,0:127	1|1:0,98:98:99:3517,295,0:127	1|0:41,38:79:99:1267,0,1226:127
1	17398066	.	G	C	9733.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs875219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=875219" target="_blank">rs875219</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1550-80C>G;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1550-80C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.1550-80C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17398066">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:75:1075,75,0:77	1|1:0,26:26:78:1161,78,0:77	1|1:0,31:31:93:1384,93,0:77
1	17398069	.	T	C	9625.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs875218;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=875218" target="_blank">rs875218</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1550-83A>G;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1550-83A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.1550-83A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17398069">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:72:1039,72,0:74	1|1:0,25:25:75:1125,75,0:74	1|1:0,30:30:93:1384,93,0:74
1	17402135	.	T	C	17963.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3818034;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818034" target="_blank">rs3818034</a>;ExAC.Info.AC=77524;ExAC.Info.AN=126662;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=28517;ExAC.Info.AC_Hom=24103;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1455+39A>G;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1455+39A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.1455+39A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17402135">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:2028,165,0:127	1|1:0,77:77:99:2710,231,0:127	1|1:0,70:70:99:2548,210,0:127
1	17402159	.	G	A	22410.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3818033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818033" target="_blank">rs3818033</a>;ExAC.Info.AC=77598;ExAC.Info.AN=126694;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=28835;ExAC.Info.AC_Hom=24325;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1455+15C>T;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1455+15C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.1455+15C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17402159">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2660,228,0:127	1|1:0,94:94:99:3337,282,0:127	1|1:0,93:93:99:3107,279,0:127
1	17402255	.	C	T	28609.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3818032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818032" target="_blank">rs3818032</a>;ExAC.Info.AC=77618;ExAC.Info.AN=126704;ExAC.Info.AF=0.613;ExAC.Info.AC_Het=28884;ExAC.Info.AC_Hom=24365;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala458Ala/c.1374G>A;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1374G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.1374G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17402255">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:3455,326,0:127	1|1:0,139:139:99:4607,417,0:127	1|1:0,111:111:99:3758,333,0:127
1	17402347	.	C	T	20460.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2647205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2647205" target="_blank">rs2647205</a>;ExAC.Info.AC=123921;ExAC.Info.AN=126702;ExAC.Info.AF=0.978;ExAC.Info.AC_Het=2694;ExAC.Info.AC_Hom=60537;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1311-29G>A;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1311-29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.1311-29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17402347">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2288,210,0:127	1|1:0,91:91:99:2964,273,0:127	1|1:0,90:90:99:2947,270,0:127
1	17405809	.	G	A	15169.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2057096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2057096" target="_blank">rs2057096</a>;ExAC.Info.AC=68100;ExAC.Info.AN=126704;ExAC.Info.AF=0.537;ExAC.Info.AC_Het=30380;ExAC.Info.AC_Hom=18847;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn420Asn/c.1260C>T;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1260C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.1260C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17405809">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1833,162,0:127	1|1:0,69:69:99:2246,207,0:127	1|1:0,44:44:99:1527,132,0:127
1	17405916	.	C	T	12776.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2057095;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2057095" target="_blank">rs2057095</a>;ExAC.Info.AC=67988;ExAC.Info.AN=126680;ExAC.Info.AF=0.537;ExAC.Info.AC_Het=30233;ExAC.Info.AC_Hom=18689;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1159-6G>A;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1159G>A;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1159-6G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.1159-6G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17405916">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1535,147,0:127	1|1:0,61:61:99:1945,183,0:127	1|1:0,51:51:99:1693,153,0:127
1	17405949	.	C	T	8773.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2057094;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2057094" target="_blank">rs2057094</a>;ExAC.Info.AC=70006;ExAC.Info.AN=126608;ExAC.Info.AF=0.553;ExAC.Info.AC_Het=29833;ExAC.Info.AC_Hom=19170;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1159-39G>A;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1159-39G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.1159-39G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17405949">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1027,96,0:104	1|1:0,35:35:99:1235,105,0:104	1|1:0,38:38:99:1332,114,0:104
1	17410364	.	G	A	8946.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1883913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1883913" target="_blank">rs1883913</a>;ExAC.Info.AC=67714;ExAC.Info.AN=126700;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=30199;ExAC.Info.AC_Hom=18686;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.939-32C>T;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.939-32C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.939-32C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17410364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:896,78,0:116	1|1:0,45:45:99:1534,135,0:116	1|1:0,39:39:99:1455,117,0:116
1	17419066	.	T	C	26138.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11203298;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11203298" target="_blank">rs11203298</a>;ExAC.Info.AC=70577;ExAC.Info.AN=126502;ExAC.Info.AF=0.558;ExAC.Info.AC_Het=28640;ExAC.Info.AC_Hom=19621;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.530-38A>G;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.530-38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.530-38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17419066">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3780,339,0:127	1|1:0,122:122:99:4403,366,0:127	1|1:0,85:85:99:2938,255,0:127
1	17422302	.	T	C	21929.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2076608;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076608" target="_blank">rs2076608</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.411+102A>G;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.411+102A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.411+102A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17422302">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2683,225,0:127	1|1:0,80:80:99:2946,241,0:127	1|1:0,72:72:99:2733,217,0:127
1	17431618	.	A	G	6047.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11203300;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11203300" target="_blank">rs11203300</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.93-62T>C;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375486;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375486;SAVANT_GENE=PADI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI2" target="_blank">PADI2</a>;SAVANT_INFO=-/52.7kb/16/4.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.93-62T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI2+c.93-62T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17431618">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:444,36,0:47	1|1:0,29:29:87:1092,87,0:47	1|1:0,16:16:48:666,48,0:47
1	17550225	.	T	C	11461.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3003481;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3003481" target="_blank">rs3003481</a>;ExAC.Info.AC=126560;ExAC.Info.AN=126648;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=69;ExAC.Info.AC_Hom=61086;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346+37T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375471;SAVANT_GENE=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;SAVANT_INFO=+/40.9kb/16/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.346+37T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI1+c.346+37T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17550225">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1498,132,0:120	1|1:0,55:55:99:1875,165,0:120	1|1:0,40:40:99:1365,120,0:120
1	17550303	.	T	C	4279.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2293913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2293913" target="_blank">rs2293913</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346+115T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375471;SAVANT_GENE=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;SAVANT_INFO=+/40.9kb/16/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.346+115T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI1+c.346+115T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17550303">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,9:25:99:187,0,467:125	1|1:0,49:49:99:1676,147,0:125	0|0:42,0:42:99:0,126,1507:125
1	17555508	.	G	T	2828.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2977234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2977234" target="_blank">rs2977234</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=30639;ExAC.Info.AN=125244;ExAC.Info.AF=0.245;ExAC.Info.AC_Het=14585;ExAC.Info.AC_Hom=2711;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acT;snpeff.Amino_Acid_Change=p.Thr297Thr/c.891G>T;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375471;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375471;SAVANT_GENE=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;SAVANT_INFO=+/40.9kb/16/3.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.891G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI1+c.891G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17555508">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,20:38:99:553,0,462:127	0|0:65,0:65:99:0,195,1895:127	1|0:23,21:44:99:520,0,592:127
1	17557133	.	A	C	3950.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3003406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3003406" target="_blank">rs3003406</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=52184;ExAC.Info.AN=126690;ExAC.Info.AF=0.412;ExAC.Info.AC_Het=29804;ExAC.Info.AC_Hom=10687;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Agg/Cgg;snpeff.Amino_Acid_Change=p.Arg374Arg/c.1120A>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375471;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375471;SAVANT_GENE=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;SAVANT_INFO=+/40.9kb/16/3.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1120A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI1+c.1120A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17557133">View</a>	GT:AD:DP:GQ:PL:TP	0|0:168,0:168:99:0,505,5580:127	0|1:87,72:159:99:1994,0,2449:127	0|0:151,0:151:99:0,454,5217:127
1	17557178	.	C	T	4044.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2977235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2977235" target="_blank">rs2977235</a>;ExAC.Info.AC=40464;ExAC.Info.AN=126552;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=25087;ExAC.Info.AC_Hom=5862;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1161+4C>T;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375471;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1162C>T;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375471;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375471;SAVANT_GENE=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;SAVANT_INFO=+/40.9kb/16/3.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1161+4C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI1+c.1161+4C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17557178">View</a>	GT:AD:DP:GQ:PL:TP	0|0:154,0:154:99:0,461,4870:127	0|1:83,70:153:99:2041,0,2336:127	0|0:139,0:139:99:0,418,4774:127
1	17563967	.	T	C	2770.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2977306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2977306" target="_blank">rs2977306</a>;ExAC.Info.AC=54888;ExAC.Info.AN=126574;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=29552;ExAC.Info.AC_Hom=11839;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1458+14T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375471;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375471;SAVANT_GENE=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;SAVANT_INFO=+/40.9kb/16/3.8kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1458+14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI1+c.1458+14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17563967">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,2952:127	0|1:49,43:92:99:1404,0,1425:127	0|0:66,0:66:99:0,198,2258:127
1	17570466	.	T	C	1850.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2293921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2293921" target="_blank">rs2293921</a>;ExAC.Info.AC=56568;ExAC.Info.AN=126220;ExAC.Info.AF=0.448;ExAC.Info.AC_Het=25840;ExAC.Info.AC_Hom=11030;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1759-39T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375471;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375471;SAVANT_GENE=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;SAVANT_INFO=+/40.9kb/16/3.8kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1759-39T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI1+c.1759-39T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17570466">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,1:48:99:0,105,1439:104	0|1:44,33:77:99:944,0,1259:104	0|0:66,0:66:99:0,198,2149:104
1	17570767	.	C	G	3466.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41300110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41300110" target="_blank">rs41300110</a>;ExAC.Info.AC=10902;ExAC.Info.AN=126692;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=9770;ExAC.Info.AC_Hom=542;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=29;snpeff.Amino_Acid_Change=c.*29C>G;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375471;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375471;SAVANT_GENE=PADI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI1" target="_blank">PADI1</a>;SAVANT_INFO=+/40.9kb/16/3.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*29C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI1+c.*29C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17570767">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,283,3407:127	0|1:49,57:106:99:1752,0,1496:127	0|0:74,0:74:99:0,222,2756:127
1	17592121	.	T	C	1052.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72646775;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72646775" target="_blank">rs72646775</a>;ExAC.Info.AC=10416;ExAC.Info.AN=126700;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=9409;ExAC.Info.AC_Hom=504;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.347-33T>C;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI3" target="_blank">PADI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375460;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375460;SAVANT_GENE=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI3" target="_blank">PADI3</a>;SAVANT_INFO=+/35.1kb/16/3.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.347-33T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI3+c.347-33T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17592121">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,896:74	0|1:24,20:44:99:545,0,684:74	0|0:39,0:39:99:0,117,1413:74
1	17593144	.	C	G	2358.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2272628;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272628" target="_blank">rs2272628</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.409-70C>G;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI3" target="_blank">PADI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375460;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375460;SAVANT_GENE=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI3" target="_blank">PADI3</a>;SAVANT_INFO=+/35.1kb/16/3.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.409-70C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI3+c.409-70C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17593144">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,249,2933:127	0|1:20,37:57:99:1198,0,584:127	0|0:63,0:63:99:0,189,2347:127
1	17601083	.	C	T	3672.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2293917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2293917" target="_blank">rs2293917</a>;ExAC.Info.AC=44990;ExAC.Info.AN=126462;ExAC.Info.AF=0.356;ExAC.Info.AC_Het=26948;ExAC.Info.AC_Hom=8286;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1156-47C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI3" target="_blank">PADI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375460;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375460;SAVANT_GENE=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI3" target="_blank">PADI3</a>;SAVANT_INFO=+/35.1kb/16/3.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1156-47C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI3+c.1156-47C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17601083">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2616:127	0|1:49,63:112:99:1855,0,1370:127	0|0:81,0:81:99:0,243,2645:127
1	17601165	.	C	T	4216.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11585357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11585357" target="_blank">rs11585357</a>;ExAC.Info.AC=15540;ExAC.Info.AN=126702;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=13056;ExAC.Info.AC_Hom=1233;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg397Arg/c.1191C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI3" target="_blank">PADI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375460;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375460;SAVANT_GENE=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI3" target="_blank">PADI3</a>;SAVANT_INFO=+/35.1kb/16/3.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1191C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI3+c.1191C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17601165">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,3593:127	0|1:67,73:140:99:2127,0,1947:127	0|0:103,0:103:99:0,310,3567:127
1	17604437	.	C	T	4889.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72646786;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72646786" target="_blank">rs72646786</a>;ExAC.Info.AC=129;ExAC.Info.AN=4472;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.54C>T;snpeff.Gene_Name=MIR3972;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR3972" target="_blank">MIR3972</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000582732;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1555+1066C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR3972" target="_blank">MIR3972</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375460;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375460;SAVANT_GENE=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI3" target="_blank">PADI3</a>;SAVANT_INFO=+/35.1kb/16/3.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1555+1066C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI3+c.1555+1066C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17604437">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,33:69:99:912,0,894:127	0|0:50,0:50:99:0,150,1851:127	1|0:23,36:59:99:1131,0,659:127
1	17609448	.	G	T	6598.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2293920;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2293920" target="_blank">rs2293920</a>;ExAC.Info.AC=55606;ExAC.Info.AN=126696;ExAC.Info.AF=0.439;ExAC.Info.AC_Het=30222;ExAC.Info.AC_Hom=12644;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccT;snpeff.Amino_Acid_Change=p.Pro623Pro/c.1869G>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI3" target="_blank">PADI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375460;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375460;SAVANT_GENE=PADI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI3" target="_blank">PADI3</a>;SAVANT_INFO=+/35.1kb/16/3.2kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1869G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI3+c.1869G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17609448">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,36:64:99:981,0,735:127	1|0:48,48:96:99:1457,0,1332:127	0|0:77,0:77:99:0,231,2651:127
1	17657534	.	G	A	3222.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11203366;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11203366" target="_blank">rs11203366</a>;ExAC.Info.AC=71138;ExAC.Info.AN=126704;ExAC.Info.AF=0.561;ExAC.Info.AC_Het=30712;ExAC.Info.AC_Hom=20190;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.316+592C>T;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=AC004824.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602074;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly55Ser/c.163G>A;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.163G>A_p.Gly55Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.163G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17657534">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,264,2869:127	0|1:56,56:112:99:1630,0,1604:127	0|0:84,0:84:99:0,252,2736:127
1	17657616	.	T	C	2814.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11203367;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11203367" target="_blank">rs11203367</a>;ExAC.Info.AC=71453;ExAC.Info.AN=126704;ExAC.Info.AF=0.564;ExAC.Info.AC_Het=30703;ExAC.Info.AC_Hom=20346;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.316+510A>G;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=AC004824.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602074;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.245T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val82Ala/c.245T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.245T>C_p.Val82Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.245T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17657616">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2209:127	0|1:40,49:89:99:1426,0,1171:127	0|0:64,0:64:99:0,192,2230:127
1	17660499	.	G	C	1614.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs874881;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=874881" target="_blank">rs874881</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Rheumatoid_arthritis|_association_with;hgmd_2014.2.OMIM_ID=605347;hgmd_2014.2.PubMed=22505706;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=22505706" target="_blank">22505706</a>;ExAC.Info.AC=69209;ExAC.Info.AN=126704;ExAC.Info.AF=0.546;ExAC.Info.AC_Het=30951;ExAC.Info.AC_Hom=19086;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.223-2280C>G;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=AC004824.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602074;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335G>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335G>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gCg;snpeff.Amino_Acid_Change=p.Gly112Ala/c.335G>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.335G>C_p.Gly112Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.335G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17660499">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1373:104	0|1:20,27:47:99:826,0,671:104	0|0:35,0:35:99:0,105,1182:104
1	17661128	.	A	C	858.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1555658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1555658" target="_blank">rs1555658</a>;ExAC.Info.AC=10753;ExAC.Info.AN=17922;ExAC.Info.AF=0.600;ExAC.Info.AC_Het=3515;ExAC.Info.AC_Hom=2944;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.340+624A>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.223-2909T>G;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=AC004824.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602074;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.341A>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.341A>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.340+624A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.340+624A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17661128">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,961:71	0|1:23,16:39:99:448,0,670:71	0|0:24,0:24:72:0,72,776:71
1	17661805	.	A	G	1890.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1635594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1635594" target="_blank">rs1635594</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.341-849A>G;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.222+2412T>C;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=AC004824.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602074;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.341A>G;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.341A>G;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.341-849A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.341-849A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17661805">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1670:127	0|1:30,35:65:99:964,0,807:127	0|0:46,0:46:99:0,138,1550:127
1	17662639	.	T	C	1096.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2240340;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2240340" target="_blank">rs2240340</a>;ExAC.Info.AC=70822;ExAC.Info.AN=126696;ExAC.Info.AF=0.559;ExAC.Info.AC_Het=30626;ExAC.Info.AC_Hom=19698;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.341-15T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.222+1578A>G;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=AC004824.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602074;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.341T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.341T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.341-15T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.341-15T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17662639">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,1359:116	0|1:25,18:43:99:567,0,675:116	0|0:43,0:43:99:0,129,1570:116
1	17662662	.	T	C	1378.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1748033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1748033" target="_blank">rs1748033</a>;ExAC.Info.AC=80704;ExAC.Info.AN=126698;ExAC.Info.AF=0.637;ExAC.Info.AC_Het=28517;ExAC.Info.AC_Hom=25887;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.222+1555A>G;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=AC004824.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602074;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu117Leu/c.349T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.349T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.349T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17662662">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1828:127	0|1:29,23:52:99:708,0,839:127	0|0:50,0:50:99:0,150,1703:127
1	17662751	.	C	G	2060.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1621005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1621005" target="_blank">rs1621005</a>;ExAC.Info.AC=80835;ExAC.Info.AN=126696;ExAC.Info.AF=0.638;ExAC.Info.AC_Het=28284;ExAC.Info.AC_Hom=25709;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.408+30C>G;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.222+1466G>C;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=AC004824.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602074;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.408+30C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.408+30C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17662751">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2099:127	0|1:31,33:64:99:1049,0,843:127	0|0:46,0:46:99:0,138,1800:127
1	17662804	.	C	T	1590.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1748032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1748032" target="_blank">rs1748032</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.408+83C>T;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.222+1413G>A;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=AC004824.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602074;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.408+83C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.408+83C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17662804">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1224:95	0|1:25,27:52:99:814,0,747:95	0|0:32,0:32:96:0,96,1133:95
1	17668563	.	G	A	3440.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35903413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35903413" target="_blank">rs35903413</a>;ExAC.Info.AC=13112;ExAC.Info.AN=126704;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=11321;ExAC.Info.AC_Hom=895;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.154+783C>T;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=AC004824.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602074;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp260Asn/c.778G>A;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0048242" target="_blank">AC0048242</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.778G>A_p.Asp260Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.778G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17668563">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,3596:127	0|1:74,62:136:99:1739,0,2118:127	0|0:98,0:98:99:0,294,3417:127
1	17672642	.	C	T	3652.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41266003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41266003" target="_blank">rs41266003</a>;ExAC.Info.AC=19150;ExAC.Info.AN=126674;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=15423;ExAC.Info.AC_Hom=1831;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1047+8C>T;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.90-3227G>A;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=AC004824.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602074;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048C>T;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048C>T;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048C>T;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1047+8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.1047+8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17672642">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,405,4697:127	0|1:64,64:128:99:1845,0,2085:127	0|0:121,0:121:99:0,364,4547:127
1	17683041	.	T	C	4904.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1635567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1635567" target="_blank">rs1635567</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1558+87T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559T>C;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1558+87T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.1558+87T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17683041">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2032:127	0|1:46,40:86:99:1170,0,1292:127	0|1:37,44:81:99:1302,0,899:127
1	17689954	.	C	T	1122.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2477150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2477150" target="_blank">rs2477150</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1759-63C>T;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375448;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375448;SAVANT_GENE=PADI4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI4" target="_blank">PADI4</a>;SAVANT_INFO=+/55.8kb/16/2.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1759-63C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI4+c.1759-63C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17689954">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1638:127	0|0:57,0:57:99:0,171,2087:127	0|1:22,18:40:99:580,0,660:127
1	17698891	.	C	T	1308.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6700319;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6700319" target="_blank">rs6700319</a>;ExAC.Info.AC=22517;ExAC.Info.AN=125388;ExAC.Info.AF=0.180;ExAC.Info.AC_Het=17964;ExAC.Info.AC_Hom=2242;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.166+35C>T;snpeff.Gene_Name=PADI6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434762;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI6+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17698891">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2217:127	0|0:90,0:90:99:0,270,3385:127	0|1:22,25:47:99:673,0,643:127
1	17699509	.	G	GGTGA	1375.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2308230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2308230" target="_blank">rs2308230</a>;ExAC.Info.AC=26957;ExAC.Info.AN=125106;ExAC.Info.AF=0.215;ExAC.Info.AC_Het=19521;ExAC.Info.AC_Hom=2768;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.167-41_167-40insGTGA;snpeff.Gene_Name=PADI6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434762;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI6+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17699509">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,160,2365:127	0|0:52,0:52:99:0,157,2325:127	0|1:15,16:31:99:711,0,568:127
1	17707601	.	T	C	2066.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6669650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6669650" target="_blank">rs6669650</a>;ExAC.Info.AC=19709;ExAC.Info.AN=124968;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=15236;ExAC.Info.AC_Hom=1597;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.545T>C;snpeff.Gene_Name=PADI6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434762;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI6+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17707601">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2341:127	0|0:77,0:77:99:0,231,2679:127	0|1:23,40:63:99:1052,0,644:127
1	17707739	.	T	C	10305.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1204898;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1204898" target="_blank">rs1204898</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.603+80T>C;snpeff.Gene_Name=PADI6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434762;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI6+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17707739">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1119,93,0:81	1|1:0,61:61:99:2229,183,0:81	1|1:0,27:27:81:1045,81,0:81
1	17714864	.	T	C	506.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6696295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6696295" target="_blank">rs6696295</a>;ExAC.Info.AC=28399;ExAC.Info.AN=124532;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=19635;ExAC.Info.AC_Hom=3018;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.730-12T>C;snpeff.Gene_Name=PADI6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434762;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI6+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17714864">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1080:89	0|0:41,0:41:99:0,123,1467:89	0|1:12,8:20:99:272,0,318:89
1	17718671	.	AG	A	15169.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10709483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10709483" target="_blank">rs10709483</a>;ExAC.Info.AC=110255;ExAC.Info.AN=110264;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=19256;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1076delG;snpeff.Gene_Name=PADI6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434762;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI6+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17718671">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1833,157,0:127	1|1:0,68:68:99:2392,205,0:127	1|1:0,50:50:99:1758,151,0:127
1	17720391	.	G	A	7488.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs6678552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6678552" target="_blank">rs6678552</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1126-80G>A;snpeff.Gene_Name=PADI6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434762;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI6+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17720391">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1130,111,0:104	1|1:0,35:35:99:1245,105,0:104	1|0:13,22:35:99:658,0,335:104
1	17720439	.	T	C	11858.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6695849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6695849" target="_blank">rs6695849</a>;ExAC.Info.AC=77605;ExAC.Info.AN=125090;ExAC.Info.AF=0.620;ExAC.Info.AC_Het=28948;ExAC.Info.AC_Hom=23943;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1126-32T>C;snpeff.Gene_Name=PADI6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434762;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI6+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17720439">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1487,135,0:119	1|1:0,46:46:99:1667,138,0:119	1|1:0,40:40:99:1408,120,0:119
1	17720615	.	A	C	17197.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10458537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10458537" target="_blank">rs10458537</a>;ExAC.Info.AC=77654;ExAC.Info.AN=124866;ExAC.Info.AF=0.622;ExAC.Info.AC_Het=28685;ExAC.Info.AC_Hom=23765;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1233+37A>C;snpeff.Gene_Name=PADI6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434762;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PADI6" target="_blank">PADI6</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PADI6+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17720615">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2229,183,0:127	1|1:0,71:71:99:2612,213,0:127	1|1:0,72:72:99:2532,216,0:127
1	17738570	.	AC	A	2295.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs71014950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71014950" target="_blank">rs71014950</a>;ExAC.Info.AC=33348;ExAC.Info.AN=126698;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=24103;ExAC.Info.AC_Hom=4551;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1386+47delG;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=RCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCC2" target="_blank">RCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375436;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000375436;SAVANT_GENE=RCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCC2" target="_blank">RCC2</a>;SAVANT_INFO=-/33.0kb/13/4.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1386+47delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCC2+c.1386+47delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17738570">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,271,3207:127	0|0:96,0:96:99:0,289,3415:127	0|1:39,40:79:99:1171,0,1150:127
1	17748704	.	C	A	238.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=1;ExAC.Info.AN=126704;ExAC.Info.AF=7.892e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcg/Tcg;snpeff.Amino_Acid_Change=p.Ala247Ser/c.739G>T;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=RCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCC2" target="_blank">RCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375436;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375436;SAVANT_GENE=RCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCC2" target="_blank">RCC2</a>;SAVANT_INFO=-/33.0kb/13/4.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.739G>T_p.Ala247Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCC2+c.739G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17748704">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,841:71	0|0:45,0:45:99:0,135,1543:71	0|1:17,6:23:99:138,0,548:71
1	17914057	.	G	A	4458.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34417109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34417109" target="_blank">rs34417109</a>;ExAC.Info.AC=5995;ExAC.Info.AN=126704;ExAC.Info.AF=0.047;ExAC.Info.AC_Het=5651;ExAC.Info.AC_Hom=172;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser47Asn/c.140G>A;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361221;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361221;SAVANT_GENE=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;SAVANT_INFO=+/158.0kb/29/4.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.140G>A_p.Ser47Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF10L+c.140G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17914057">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,351,3970:127	0|1:72,80:152:99:2248,0,2028:127	0|0:127,0:127:99:0,382,4517:127
1	17914122	.	G	A	3168.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35497285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35497285" target="_blank">rs35497285</a>;ExAC.Info.AC=12088;ExAC.Info.AN=126698;ExAC.Info.AF=0.095;ExAC.Info.AC_Het=10718;ExAC.Info.AC_Hom=681;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp69Asn/c.205G>A;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361221;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361221;SAVANT_GENE=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;SAVANT_INFO=+/158.0kb/29/4.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.205G>A_p.Asp69Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF10L+c.205G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17914122">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,3334:127	0|0:133,0:133:99:0,399,4745:127	0|1:53,60:113:99:1603,0,1542:127
1	17944934	.	C	T	2601.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs139656107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139656107" target="_blank">rs139656107</a>;cosmic68.Histology_subtype=endometrioid_carcinoma;ExAC.Info.AC=175;ExAC.Info.AN=54756;ExAC.Info.AF=3.196e-03;ExAC.Info.AC_Het=86;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.836-900C>T;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361221;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361221;SAVANT_GENE=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;SAVANT_INFO=+/158.0kb/29/4.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.836-900C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF10L+c.836-900C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17944934">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,28:57:99:728,0,896:127	0|0:44,0:44:99:0,132,1611:127	1|0:21,16:37:99:420,0,657:127
1	17991052	.	T	C	13751.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6695710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6695710" target="_blank">rs6695710</a>;ExAC.Info.AC=126616;ExAC.Info.AN=126634;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=61952;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp991Arg/c.2971T>C;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361221;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361221;SAVANT_GENE=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;SAVANT_INFO=+/158.0kb/29/4.5kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.2971T>C_p.Trp991Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF10L+c.2971T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:17991052">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1252,111,0:125	1|1:0,79:79:99:2701,237,0:125	1|1:0,42:42:99:1579,126,0:125
1	18017558	.	A	G	44477.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=588;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs871088;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=871088" target="_blank">rs871088</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3184+3316A>G;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361221;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361221;SAVANT_GENE=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;SAVANT_INFO=+/158.0kb/29/4.5kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3184+3316A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF10L+c.3184+3316A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18017558">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,195:195:99:6534,586,0:127	1|1:0,196:196:99:6611,589,0:127	1|1:0,197:197:99:6628,591,0:127
1	18017704	.	C	T	33823.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs871089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=871089" target="_blank">rs871089</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3184+3462C>T;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361221;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361221;SAVANT_GENE=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;SAVANT_INFO=+/158.0kb/29/4.5kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3184+3462C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF10L+c.3184+3462C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18017704">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:5286,444,0:127	1|1:0,161:161:99:6100,484,0:127	1|1:0,118:118:99:4592,355,0:127
1	18021406	.	T	C	18435.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs905389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=905389" target="_blank">rs905389</a>;ExAC.Info.AC=63219;ExAC.Info.AN=80190;ExAC.Info.AF=0.788;ExAC.Info.AC_Het=2036;ExAC.Info.AC_Hom=6380;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3185-247T>C;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361221;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361221;SAVANT_GENE=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;SAVANT_INFO=+/158.0kb/29/4.5kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3185-247T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF10L+c.3185-247T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18021406">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2537,207,0:127	1|1:0,77:77:99:2714,231,0:127	1|1:0,67:67:99:2451,201,0:127
1	18023290	.	C	T	10173.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2270979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270979" target="_blank">rs2270979</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3308-53C>T;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361221;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361221;SAVANT_GENE=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;SAVANT_INFO=+/158.0kb/29/4.5kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.3308-53C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF10L+c.3308-53C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18023290">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1410,123,0:92	1|1:0,51:51:99:1792,153,0:92	1|1:0,31:31:93:1076,93,0:92
1	18023365	.	C	T	18904.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2270978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270978" target="_blank">rs2270978</a>;ExAC.Info.AC=102754;ExAC.Info.AN=126098;ExAC.Info.AF=0.815;ExAC.Info.AC_Het=17339;ExAC.Info.AC_Hom=39995;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn1110Asn/c.3330C>T;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361221;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361221;SAVANT_GENE=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;SAVANT_INFO=+/158.0kb/29/4.5kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.3330C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF10L+c.3330C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18023365">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2516,231,0:127	1|1:0,87:87:99:2952,261,0:127	1|1:0,54:54:99:1868,162,0:127
1	18023509	.	T	C	9084.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2270977;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270977" target="_blank">rs2270977</a>;ExAC.Info.AC=103414;ExAC.Info.AN=124790;ExAC.Info.AF=0.829;ExAC.Info.AC_Het=15638;ExAC.Info.AC_Hom=39468;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp1158Asp/c.3474T>C;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361221;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361221;SAVANT_GENE=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;SAVANT_INFO=+/158.0kb/29/4.5kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.3474T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF10L+c.3474T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18023509">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:1028,84,0:86	1|1:0,38:38:99:1474,114,0:86	1|1:0,29:29:87:1122,87,0:86
1	18023690	.	A	G	14498.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2270976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270976" target="_blank">rs2270976</a>;ExAC.Info.AC=102683;ExAC.Info.AN=123812;ExAC.Info.AF=0.829;ExAC.Info.AC_Het=15850;ExAC.Info.AC_Hom=41015;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile1219Val/c.3655A>G;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361221;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361221;SAVANT_GENE=ARHGEF10L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF10L" target="_blank">ARHGEF10L</a>;SAVANT_INFO=+/158.0kb/29/4.5kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.3655A>G_p.Ile1219Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF10L+c.3655A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18023690">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1665,153,0:114	1|1:0,66:66:99:2096,198,0:114	1|1:0,38:38:99:1317,114,0:114
1	18149510	.	G	T	7931.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs694214;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=694214" target="_blank">rs694214</a>;ExAC.Info.AC=49247;ExAC.Info.AN=126688;ExAC.Info.AF=0.389;ExAC.Info.AC_Het=28942;ExAC.Info.AC_Hom=9870;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Tca;snpeff.Amino_Acid_Change=p.Ala3Ser/c.7G>T;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=ACTL8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTL8" target="_blank">ACTL8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375406;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375406;SAVANT_GENE=ACTL8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTL8" target="_blank">ACTL8</a>;SAVANT_INFO=+/71.8kb/3/1.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.7G>T_p.Ala3Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTL8+c.7G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18149510">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,30:69:99:832,0,1348:127	0/1:42,42:84:99:1225,0,1398:127	0/1:22,38:60:99:1133,0,577:127
1	18149566	.	C	A	16378.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=499;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2296035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296035" target="_blank">rs2296035</a>;ExAC.Info.AC=63096;ExAC.Info.AN=126704;ExAC.Info.AF=0.498;ExAC.Info.AC_Het=30338;ExAC.Info.AC_Hom=16356;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly21Gly/c.63C>A;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=ACTL8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTL8" target="_blank">ACTL8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375406;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375406;SAVANT_GENE=ACTL8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTL8" target="_blank">ACTL8</a>;SAVANT_INFO=+/71.8kb/3/1.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.63C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTL8+c.63C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18149566">View</a>	GT:AD:DP:GQ:PL:TP	0/1:90,75:165:99:1933,0,2684:127	0/1:87,101:188:99:2612,0,2769:127	0/1:62,84:146:99:2457,0,1819:127
1	18152582	.	C	T	9641.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs478698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=478698" target="_blank">rs478698</a>;ExAC.Info.AC=21721;ExAC.Info.AN=126702;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=17379;ExAC.Info.AC_Hom=2135;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp223Asp/c.669C>T;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=ACTL8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTL8" target="_blank">ACTL8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375406;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375406;SAVANT_GENE=ACTL8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTL8" target="_blank">ACTL8</a>;SAVANT_INFO=+/71.8kb/3/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.669C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTL8+c.669C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18152582">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,61:122:99:1679,0,1870:127	0|0:165,0:165:99:0,496,6077:127	1|0:55,63:118:99:1836,0,1808:127
1	18554356	.	C	T	5855.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3738087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738087" target="_blank">rs3738087</a>;ExAC.Info.AC=31342;ExAC.Info.AN=126700;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=22768;ExAC.Info.AC_Hom=4251;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.71-36C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=IGSF21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF21" target="_blank">IGSF21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251296;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.71C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=IGSF21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF21" target="_blank">IGSF21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251296;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.71C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=IGSF21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF21" target="_blank">IGSF21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251296;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000251296;SAVANT_GENE=IGSF21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF21" target="_blank">IGSF21</a>;SAVANT_INFO=+/270.7kb/10/1.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.71-36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF21+c.71-36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18554356">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,33:70:99:905,0,1234:127	1|0:35,39:74:99:1223,0,1069:127	0|0:78,0:78:99:0,234,2623:127
1	18704862	.	A	G	15300.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1043459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1043459" target="_blank">rs1043459</a>;ExAC.Info.AC=61334;ExAC.Info.AN=126474;ExAC.Info.AF=0.485;ExAC.Info.AC_Het=27984;ExAC.Info.AC_Hom=14327;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=42;snpeff.Amino_Acid_Change=c.*42A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=IGSF21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF21" target="_blank">IGSF21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251296;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000251296;SAVANT_GENE=IGSF21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF21" target="_blank">IGSF21</a>;SAVANT_INFO=+/270.7kb/10/1.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*42A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF21+c.*42A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18704862">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2291,198,0:127	1|0:47,40:87:99:1156,0,1360:127	1|1:0,71:71:99:2550,213,0:127
1	18807536	.	G	T	2355.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7512414;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7512414" target="_blank">rs7512414</a>;ExAC.Info.AC=13555;ExAC.Info.AN=125466;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=11891;ExAC.Info.AC_Hom=810;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.61G>T;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ttg;snpeff.Amino_Acid_Change=p.Val21Leu/c.61G>T;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.61G>T_p.Val21Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.61G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18807536">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,17:34:99:494,0,533:114	1|0:20,16:36:99:443,0,689:114	0|0:38,0:38:99:0,114,1352:114
1	18807620	.	G	C	2371.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34109355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34109355" target="_blank">rs34109355</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=13500;ExAC.Info.AN=125324;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=11784;ExAC.Info.AC_Hom=782;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Cgt;snpeff.Amino_Acid_Change=p.Gly49Arg/c.145G>C;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.145G>C_p.Gly49Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.145G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18807620">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,19:42:99:518,0,663:108	1|0:21,18:39:99:516,0,662:108	0|0:36,0:36:99:0,108,1263:108
1	18807755	.	G	A	2222.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34976233;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34976233" target="_blank">rs34976233</a>;ExAC.Info.AC=13287;ExAC.Info.AN=125184;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=11109;ExAC.Info.AC_Hom=752;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly94Ser/c.280G>A;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.280G>A_p.Gly94Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.280G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18807755">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,11:22:99:315,0,377:101	1|0:14,14:28:99:475,0,443:101	0|0:34,0:34:99:0,102,1297:101
1	18807781	.	C	T	2115.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35013594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35013594" target="_blank">rs35013594</a>;ExAC.Info.AC=13122;ExAC.Info.AN=125260;ExAC.Info.AF=0.105;ExAC.Info.AC_Het=10997;ExAC.Info.AC_Hom=732;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly102Gly/c.306C>T;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.306C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.306C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18807781">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,11:28:99:278,0,587:120	1|0:16,15:31:99:439,0,534:120	0|0:40,0:40:99:0,120,1411:120
1	18807897	.	C	G	14350.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2992755;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2992755" target="_blank">rs2992755</a>;ExAC.Info.AC=81140;ExAC.Info.AN=125806;ExAC.Info.AF=0.645;ExAC.Info.AC_Het=26815;ExAC.Info.AC_Hom=26669;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cGc;snpeff.Amino_Acid_Change=p.Pro141Arg/c.422C>G;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.422C>G_p.Pro141Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.422C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18807897">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,52:92:99:1434,0,1118:127	1|1:1,118:119:99:3848,347,0:127	0|1:34,34:68:99:1035,0,1030:127
1	18807938	.	C	A	3624.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2992754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2992754" target="_blank">rs2992754</a>;ExAC.Info.AC=25295;ExAC.Info.AN=126178;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=17863;ExAC.Info.AC_Hom=3541;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Act;snpeff.Amino_Acid_Change=p.Pro155Thr/c.463C>A;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.463C>A_p.Pro155Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.463C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18807938">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,345,4116:127	0|1:70,67:137:99:1831,0,2132:127	0|0:100,0:100:99:0,300,4044:127
1	18807953	.	C	A	2976.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11261022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11261022" target="_blank">rs11261022</a>;ExAC.Info.AC=42152;ExAC.Info.AN=126224;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=27310;ExAC.Info.AC_Hom=7210;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Agc;snpeff.Amino_Acid_Change=p.Arg160Ser/c.478C>A;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.478C>A_p.Arg160Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.478C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18807953">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,379,4355:127	0|0:148,1:149:99:0,417,5773:127	0|1:51,56:107:99:1507,0,1503:127
1	18808056	.	G	C	14618.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7515150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7515150" target="_blank">rs7515150</a>;ExAC.Info.AC=13695;ExAC.Info.AN=126686;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=11987;ExAC.Info.AC_Hom=819;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cCt;snpeff.Amino_Acid_Change=p.Arg194Pro/c.581G>C;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.581G>C_p.Arg194Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.581G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18808056">View</a>	GT:AD:DP:GQ:PL:TP	0|1:73,65:138:99:2477,0,3623:127	1|0:89,73:162:99:2758,0,4101:127	0|0:134,0:134:99:0,415,7231:127
1	18808069	.	A	G	14920.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7528572;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7528572" target="_blank">rs7528572</a>;ExAC.Info.AC=13702;ExAC.Info.AN=126694;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=12014;ExAC.Info.AC_Hom=821;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly198Gly/c.594A>G;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.594A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.594A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18808069">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,64:138:99:2496,0,3641:127	1|0:92,75:167:99:2896,0,4185:127	0|0:136,0:136:99:0,415,7184:127
1	18808292	.	C	A	21850.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=468;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2992753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2992753" target="_blank">rs2992753</a>;ExAC.Info.AC=82829;ExAC.Info.AN=126702;ExAC.Info.AF=0.654;ExAC.Info.AC_Het=27066;ExAC.Info.AC_Hom=27831;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cat/Aat;snpeff.Amino_Acid_Change=p.His273Asn/c.817C>A;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.817C>A_p.His273Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.817C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18808292">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,66:140:99:1701,0,2108:127	1|1:0,170:170:99:5499,511,0:127	0|1:71,87:158:99:2431,0,2071:127
1	18808465	.	T	A	8237.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3007718;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3007718" target="_blank">rs3007718</a>;ExAC.Info.AC=81618;ExAC.Info.AN=125644;ExAC.Info.AF=0.650;ExAC.Info.AC_Het=25607;ExAC.Info.AC_Hom=26242;snpeff.Effect=sequence_feature[repeat:Kelch_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990T>A;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcA;snpeff.Amino_Acid_Change=p.Ala330Ala/c.990T>A;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.990T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.990T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18808465">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,30:57:99:1010,0,818:127	1|1:0,53:53:99:2044,159,0:127	0|1:35,23:58:99:743,0,1132:127
1	18808526	.	A	C	7719.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2992752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2992752" target="_blank">rs2992752</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=80907;ExAC.Info.AN=124930;ExAC.Info.AF=0.648;ExAC.Info.AC_Het=25386;ExAC.Info.AC_Hom=25865;snpeff.Effect=sequence_feature[repeat:Kelch_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1051A>C;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Cca;snpeff.Amino_Acid_Change=p.Thr351Pro/c.1051A>C;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1051A>C_p.Thr351Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.1051A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18808526">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,30:56:99:905,0,721:127	1|1:0,51:51:99:1784,153,0:127	0|1:28,28:56:99:794,0,791:127
1	18808711	.	G	C	2306.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2992751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2992751" target="_blank">rs2992751</a>;ExAC.Info.AC=23759;ExAC.Info.AN=126576;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=16809;ExAC.Info.AC_Hom=3306;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggC;snpeff.Amino_Acid_Change=p.Gly412Gly/c.1236G>C;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1236G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.1236G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18808711">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1666:127	0|1:24,35:59:99:1172,0,724:127	0|0:51,0:51:99:0,153,1898:127
1	18810484	.	G	A	6368.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=453;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1889861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889861" target="_blank">rs1889861</a>;ExAC.Info.AC=2870;ExAC.Info.AN=19716;ExAC.Info.AF=0.146;ExAC.Info.AC_Het=2026;ExAC.Info.AC_Hom=313;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=675;snpeff.Amino_Acid_Change=c.*675G>A;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*675G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.*675G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18810484">View</a>	GT:AD:DP:GQ:PL:TP	0|0:146,0:146:99:0,448,8092:127	0|1:96,84:180:99:3203,0,4803:127	0|0:127,0:127:99:0,382,6834:127
1	18810486	.	A	C	6368.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1889862;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889862" target="_blank">rs1889862</a>;ExAC.Info.AC=3302;ExAC.Info.AN=19630;ExAC.Info.AF=0.168;ExAC.Info.AC_Het=2217;ExAC.Info.AC_Hom=423;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=677;snpeff.Amino_Acid_Change=c.*677A>C;snpeff.Amino_Acid_length=777;snpeff.Gene_Name=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400664;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400664;SAVANT_GENE=KLHDC7A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC7A" target="_blank">KLHDC7A</a>;SAVANT_INFO=+/5.1kb/1/5.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*677A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC7A+c.*677A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:18810486">View</a>	GT:AD:DP:GQ:PL:TP	0|0:144,0:144:99:0,448,8092:127	0|1:96,82:178:99:3203,0,4803:127	0|0:124,0:124:99:0,382,6834:127
1	19018131	.	A	C	13474.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Rhabdomyosarcoma_2|_alveolar|_268220_(3);dbSNP139.ID=rs2076021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076021" target="_blank">rs2076021</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.587-117A>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=PAX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX7" target="_blank">PAX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375375;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_to_mediate_interaction_with_PAXBP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587A>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=PAX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX7" target="_blank">PAX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375375;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_to_mediate_interaction_with_PAXBP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587A>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=PAX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX7" target="_blank">PAX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375375;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_to_mediate_interaction_with_PAXBP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587A>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=PAX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX7" target="_blank">PAX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375375;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_to_mediate_interaction_with_PAXBP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587A>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=PAX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX7" target="_blank">PAX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375375;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_to_mediate_interaction_with_PAXBP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587A>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=PAX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX7" target="_blank">PAX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375375;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375375;SAVANT_GENE=PAX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX7" target="_blank">PAX7</a>;SAVANT_INFO=+/105.1kb/8/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.587-117A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAX7+c.587-117A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19018131">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,59:60:99:2298,144,0:127	1|1:0,59:59:99:2228,177,0:127	1|1:0,47:47:99:1825,141,0:127
1	19027239	.	A	G	4009.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Rhabdomyosarcoma_2|_alveolar|_268220_(3);dbSNP139.ID=rs2743201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2743201" target="_blank">rs2743201</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=46360;ExAC.Info.AN=126654;ExAC.Info.AF=0.366;ExAC.Info.AC_Het=27151;ExAC.Info.AC_Hom=9336;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro293Pro/c.879A>G;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=PAX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX7" target="_blank">PAX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375375;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375375;SAVANT_GENE=PAX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX7" target="_blank">PAX7</a>;SAVANT_INFO=+/105.1kb/8/2.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.879A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAX7+c.879A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19027239">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,23:53:99:632,0,798:110	1|0:24,29:53:99:821,0,659:110	0|0:37,0:37:99:0,111,1175:110
1	19029546	.	A	G	2983.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Rhabdomyosarcoma_2|_alveolar|_268220_(3);dbSNP139.ID=rs1416464;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1416464" target="_blank">rs1416464</a>;ExAC.Info.AC=45585;ExAC.Info.AN=126088;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=26109;ExAC.Info.AC_Hom=8843;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.953-42A>G;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=PAX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX7" target="_blank">PAX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375375;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375375;SAVANT_GENE=PAX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX7" target="_blank">PAX7</a>;SAVANT_INFO=+/105.1kb/8/2.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.953-42A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAX7+c.953-42A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19029546">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,13:28:99:415,0,411:69	1|0:17,28:45:99:792,0,461:69	0|0:23,0:23:69:0,69,782:69
1	19166829	.	A	G	2096.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41273167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41273167" target="_blank">rs41273167</a>;ExAC.Info.AC=2291;ExAC.Info.AN=126702;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2218;ExAC.Info.AC_Hom=33;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1784A>G;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R2" target="_blank">TAS1R2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile595Thr/c.1784T>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R2" target="_blank">TAS1R2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375371;SAVANT_GENE=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R2" target="_blank">TAS1R2</a>;SAVANT_INFO=-/20.1kb/6/2.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1784T>C_p.Ile595Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R2+c.1784T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19166829">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1519:127	0|1:36,35:71:99:1067,0,991:127	0|0:59,0:59:99:0,177,2041:127
1	19181015	.	G	C	10242.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34447754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34447754" target="_blank">rs34447754</a>;ExAC.Info.AC=36537;ExAC.Info.AN=126700;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=25268;ExAC.Info.AC_Hom=5549;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=54040;snpeff.Amino_Acid_Change=n.*2894C>G;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.949G>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.949G>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.949G>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.949G>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.949G>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.949G>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Ggc;snpeff.Amino_Acid_Change=p.Arg317Gly/c.949C>G;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375371;SAVANT_GENE=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R2" target="_blank">TAS1R2</a>;SAVANT_INFO=-/20.1kb/6/2.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.949C>G_p.Arg317Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R2+c.949C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19181015">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,37:88:99:1183,0,1566:127	1|1:0,92:92:99:3411,276,0:127	0|0:66,0:66:99:0,198,2410:127
1	19181082	.	A	C	12539.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs28470550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28470550" target="_blank">rs28470550</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=36627;ExAC.Info.AN=126702;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=25295;ExAC.Info.AC_Hom=5585;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=53973;snpeff.Amino_Acid_Change=n.*2827T>G;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.882A>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.882A>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.882A>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.882A>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.882A>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.882A>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acG;snpeff.Amino_Acid_Change=p.Thr294Thr/c.882T>G;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375371;SAVANT_GENE=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R2" target="_blank">TAS1R2</a>;SAVANT_INFO=-/20.1kb/6/2.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.882T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R2+c.882T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19181082">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,56:113:99:1523,0,1601:127	1|1:0,118:118:99:4049,355,0:127	0|0:88,0:88:99:0,265,3275:127
1	19181393	.	T	C	15338.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35874116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35874116" target="_blank">rs35874116</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Reduced_sugar_consumption_in_obesity|_association;hgmd_2014.2.OMIM_ID=606226;hgmd_2014.2.PubMed=20943793;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20943793" target="_blank">20943793</a>;ExAC.Info.AC=37842;ExAC.Info.AN=126688;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=25715;ExAC.Info.AC_Hom=5965;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=53662;snpeff.Amino_Acid_Change=n.*2516A>G;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571T>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571T>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571T>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571T>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571T>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571T>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile191Val/c.571A>G;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375371;SAVANT_GENE=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R2" target="_blank">TAS1R2</a>;SAVANT_INFO=-/20.1kb/6/2.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.571A>G_p.Ile191Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R2+c.571A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19181393">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,62:119:99:1733,0,1607:127	1|1:0,156:156:99:5077,468,0:127	0|0:130,0:130:99:0,390,4294:127
1	19184077	.	A	G	14071.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs68081213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=68081213" target="_blank">rs68081213</a>;ExAC.Info.AC=38428;ExAC.Info.AN=126704;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=26011;ExAC.Info.AC_Hom=6187;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=50978;snpeff.Amino_Acid_Change=n.*2176T>C;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.231A>G;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.231A>G;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.231A>G;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.231A>G;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.231A>G;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.231A>G;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe77Phe/c.231T>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375371;SAVANT_GENE=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R2" target="_blank">TAS1R2</a>;SAVANT_INFO=-/20.1kb/6/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.231T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R2+c.231T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19184077">View</a>	GT:AD:DP:GQ:PL:TP	0|1:66,59:125:99:1608,0,1794:127	1|1:1,117:118:99:4007,314,0:127	0|0:127,0:127:99:0,381,4161:127
1	19186129	.	G	C	13043.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9701796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9701796" target="_blank">rs9701796</a>;ExAC.Info.AC=98686;ExAC.Info.AN=126704;ExAC.Info.AF=0.779;ExAC.Info.AC_Het=21452;ExAC.Info.AC_Hom=38594;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=48926;snpeff.Amino_Acid_Change=n.*1807C>G;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.26G>C;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tGc;snpeff.Amino_Acid_Change=p.Ser9Cys/c.26C>G;snpeff.Amino_Acid_length=839;snpeff.Gene_Name=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375371;SAVANT_GENE=TAS1R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAS1R2" target="_blank">TAS1R2</a>;SAVANT_INFO=-/20.1kb/6/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.26C>G_p.Ser9Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAS1R2+c.26C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19186129">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,41:76:99:1187,0,1046:127	0|1:47,53:100:99:1651,0,1499:127	1|1:0,72:72:99:2644,216,0:127
1	19199221	.	C	T	14455.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs11740;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11740" target="_blank">rs11740</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*41+77G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1742+1736G>A;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*118G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.*118G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19199221">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2775,240,0:127	1|0:65,42:107:99:1178,0,1824:127	1|0:45,46:91:99:1303,0,1277:127
1	19199473	.	T	A	13083.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs28700162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28700162" target="_blank">rs28700162</a>;ExAC.Info.AC=58607;ExAC.Info.AN=126688;ExAC.Info.AF=0.463;ExAC.Info.AC_Het=29588;ExAC.Info.AC_Hom=14348;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1580-22A>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1742+1484A>T;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1580-22A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.1580-22A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19199473">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2109,207,0:127	1|0:63,50:113:99:1283,0,1728:127	1|0:30,50:80:99:1394,0,771:127
1	19199487	.	A	G	3032.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs35255325;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35255325" target="_blank">rs35255325</a>;ExAC.Info.AC=24763;ExAC.Info.AN=126670;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=18864;ExAC.Info.AC_Hom=2810;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1580-36T>C;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1742+1470T>C;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1580-36T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.1580-36T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19199487">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,1907:127	0|1:47,54:101:99:1535,0,1243:127	0|0:69,1:70:99:0,171,2359:127
1	19200895	.	C	T	5778.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=725;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs35657817;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35657817" target="_blank">rs35657817</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1579+62G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1742+62G>A;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1579+62G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.1579+62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19200895">View</a>	GT:AD:DP:GQ:PL:TP	0|0:244,0:244:99:0,732,8098:127	0|1:127,107:234:99:2908,0,3738:127	0|0:247,0:247:99:0,741,8097:127
1	19200908	.	G	C	38420.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=731;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs28529092;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28529092" target="_blank">rs28529092</a>;ExAC.Info.AC=62466;ExAC.Info.AN=126670;ExAC.Info.AF=0.493;ExAC.Info.AC_Het=30259;ExAC.Info.AC_Hom=15945;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1579+49C>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1742+49C>G;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1579+49C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.1579+49C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19200908">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,246:246:99:8508,739,0:127	1|0:103,134:237:99:4074,0,2818:127	1|0:122,126:248:99:3664,0,3299:127
1	19201956	.	A	G	17649.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs2230708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230708" target="_blank">rs2230708</a>;ExAC.Info.AC=92376;ExAC.Info.AN=126704;ExAC.Info.AF=0.729;ExAC.Info.AC_Het=24523;ExAC.Info.AC_Hom=33913;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=33099;snpeff.Amino_Acid_Change=n.*1543T>C;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp460Asp/c.1380T>C;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1380T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.1380T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19201956">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2221,201,0:127	1|1:0,95:95:99:3320,286,0:127	1|0:45,30:75:99:763,0,1206:127
1	19202770	.	T	C	17149.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs7550822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7550822" target="_blank">rs7550822</a>;ExAC.Info.AC=121804;ExAC.Info.AN=126672;ExAC.Info.AF=0.962;ExAC.Info.AC_Het=4199;ExAC.Info.AC_Hom=58369;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1501+39A>G;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1338+39A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1338+39A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.1338+39A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19202770">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:2844,255,0:127	1|1:0,69:69:99:2555,207,0:127	1|1:0,62:62:99:2065,186,0:127
1	19202896	.	G	A	8514.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs2230707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230707" target="_blank">rs2230707</a>;ExAC.Info.AC=63428;ExAC.Info.AN=126654;ExAC.Info.AF=0.501;ExAC.Info.AC_Het=30473;ExAC.Info.AC_Hom=16098;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=32159;snpeff.Amino_Acid_Change=n.*1414C>T;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1251G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala417Ala/c.1251C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1251C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.1251C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19202896">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,35:58:99:1003,0,590:127	1|1:0,78:78:99:2832,234,0:127	0|0:54,0:54:99:0,162,1855:127
1	19202917	.	T	C	17318.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs7550938;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7550938" target="_blank">rs7550938</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=86619;ExAC.Info.AN=126506;ExAC.Info.AF=0.685;ExAC.Info.AC_Het=25488;ExAC.Info.AC_Hom=28835;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=32138;snpeff.Amino_Acid_Change=n.*1393A>G;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser410Ser/c.1230A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1230A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.1230A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19202917">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2571,175,0:127	1|1:0,75:75:99:3327,231,0:127	1|0:34,19:53:99:707,0,1644:127
1	19202926	.	T	C	16717.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs2230706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230706" target="_blank">rs2230706</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=86379;ExAC.Info.AN=126414;ExAC.Info.AF=0.683;ExAC.Info.AC_Het=24607;ExAC.Info.AC_Hom=27754;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=32129;snpeff.Amino_Acid_Change=n.*1384A>G;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1221T>C;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1221T>C;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala407Ala/c.1221A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1221A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.1221A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19202926">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2613,178,0:127	1|1:0,69:69:99:3127,214,0:127	1|0:35,18:53:99:647,0,1661:127
1	19203997	.	C	G	13421.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs2230705;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230705" target="_blank">rs2230705</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=86222;ExAC.Info.AN=126218;ExAC.Info.AF=0.683;ExAC.Info.AC_Het=23552;ExAC.Info.AC_Hom=27095;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=31058;snpeff.Amino_Acid_Change=n.*1213G>C;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcC;snpeff.Amino_Acid_Change=p.Ala350Ala/c.1050G>C;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1050G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.1050G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19203997">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,37:85:99:1133,0,1277:127	1|1:0,110:110:99:3808,330,0:127	0|1:64,34:98:99:949,0,1773:127
1	19204154	.	G	A	11580.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs6426813;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6426813" target="_blank">rs6426813</a>;ExAC.Info.AC=91385;ExAC.Info.AN=123004;ExAC.Info.AF=0.743;ExAC.Info.AC_Het=15815;ExAC.Info.AC_Hom=27318;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1104-48C>T;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.941-48C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Proton_acceptor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Proton_acceptor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.941-48C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.941-48C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19204154">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1627,150,0:127	1|1:0,57:57:99:1923,174,0:127	1|0:15,18:33:99:592,0,380:127
1	19204173	.	A	G	6051.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs6426814;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6426814" target="_blank">rs6426814</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1104-67T>C;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.941-67T>C;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Proton_acceptor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Proton_acceptor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.941-67T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.941-67T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19204173">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,13:40:99:315,0,817:107	1|1:2,50:52:99:1662,107,0:107	0|1:12,14:26:99:377,0,349:107
1	19205672	.	T	G	1030.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs28497538;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28497538" target="_blank">rs28497538</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1103+122A>C;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.940+122A>C;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941T>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941T>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Proton_acceptor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941T>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Proton_acceptor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941T>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.940+122A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.940+122A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19205672">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,942:83	0|1:22,18:40:99:534,0,606:83	0|0:30,0:30:90:0,90,1030:83
1	19215834	.	T	C	26422.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs941495;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=941495" target="_blank">rs941495</a>;ExAC.Info.AC=56488;ExAC.Info.AN=59384;ExAC.Info.AF=0.951;ExAC.Info.AC_Het=659;ExAC.Info.AC_Hom=11734;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*297+22A>G;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.249+22A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.249+22A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.249+22A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19215834">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:4175,361,0:127	1|0:82,54:136:99:1576,0,2181:127	1|1:0,139:139:99:4942,418,0:127
1	19216428	.	G	A	1742.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperprolinemia|_type_II|_239510_(3)|Hyperprolinemia|_type_II|_239510_(3);dbSNP139.ID=rs4592275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4592275" target="_blank">rs4592275</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*204+78C>T;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.156+78C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.157G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.157G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290597;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375341;SAVANT_GENE=ALDH4A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH4A1" target="_blank">ALDH4A1</a>;SAVANT_INFO=-/31.4kb/15/3.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.156+78C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH4A1+c.156+78C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19216428">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,10:18:99:294,0,288:78	0|0:26,0:26:78:0,78,971:78	1|0:12,10:22:99:298,0,413:78
1	19243589	.	A	G	4394.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3748586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748586" target="_blank">rs3748586</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.298-53T>C;snpeff.Gene_Name=RP13-279N23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494072;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.964-53T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=IFFO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP13-279N232" target="_blank">RP13-279N232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000455833;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000455833;SAVANT_GENE=IFFO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFFO2" target="_blank">IFFO2</a>;SAVANT_INFO=-/52.4kb/9/6.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.964-53T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFFO2+c.964-53T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19243589">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,21:36:99:641,0,469:127	0|0:58,0:58:99:0,174,2226:127	1|0:34,40:74:99:1168,0,980:127
1	19401405	.	G	A	11895.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2281748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281748" target="_blank">rs2281748</a>;ExAC.Info.AC=51157;ExAC.Info.AN=126682;ExAC.Info.AF=0.404;ExAC.Info.AC_Het=29075;ExAC.Info.AC_Hom=10522;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.601C>T;snpeff.Gene_Name=RP5-1126H10.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1126H102" target="_blank">RP5-1126H102</a>;snpeff.Transcript_BioType=3prime_overlapping_ncrna;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606379;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.15551-15C>T;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1126H102" target="_blank">RP5-1126H102</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=106;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=In105/106;SAVANT_HGVS=c.15488-15C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.15488-15C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19401405">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,63:118:99:1717,0,1574:127	0/1:91,65:156:99:1931,0,2501:127	0/1:73,43:116:99:1219,0,2030:127
1	19408294	.	G	GC	13887.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs67232976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67232976" target="_blank">rs67232976</a>;ExAC.Info.AC=15060;ExAC.Info.AN=61328;ExAC.Info.AF=0.246;ExAC.Info.AC_Het=4673;ExAC.Info.AC_Hom=1403;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.15009-227_15009-228insG;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=102;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=In102/103;SAVANT_HGVS=c.15009-228dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.15009-228dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19408294">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,53:110:99:1373,0,1557:127	1|1:0,133:133:99:4326,405,0:127	0|0:127,0:127:99:0,382,4116:127
1	19411129	.	A	G	19370.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1043905;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1043905" target="_blank">rs1043905</a>;ExAC.Info.AC=81502;ExAC.Info.AN=126704;ExAC.Info.AF=0.643;ExAC.Info.AC_Het=27532;ExAC.Info.AC_Hom=26966;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His4959His/c.14877T>C;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=102;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=Ex102;SAVANT_HGVS=c.14877T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.14877T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19411129">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2791,243,0:127	1|1:0,92:92:99:3283,276,0:127	1|0:50,47:97:99:1346,0,1541:127
1	19413261	.	T	A	13650.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12584;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12584" target="_blank">rs12584</a>;ExAC.Info.AC=73795;ExAC.Info.AN=126704;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=29592;ExAC.Info.AC_Hom=22072;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Ttg;snpeff.Amino_Acid_Change=p.Met4867Leu/c.14599A>T;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=100;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=Ex100;SAVANT_HGVS=c.14599A>T_p.Met4867Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.14599A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19413261">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1672,150,0:127	1|1:1,82:83:99:2722,239,0:127	1|0:38,25:63:99:644,0,967:127
1	19447819	.	T	C	4825.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs35802543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35802543" target="_blank">rs35802543</a>;ExAC.Info.AC=10542;ExAC.Info.AN=126704;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=9488;ExAC.Info.AC_Hom=522;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala3335Ala/c.10005A>G;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=68;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=Ex68;SAVANT_HGVS=c.10005A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.10005A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19447819">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,24:61:99:709,0,1153:127	0|0:59,0:59:99:0,177,2247:127	1|0:28,32:60:99:1047,0,1462:127
1	19447843	.	C	G	18500.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1044010;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1044010" target="_blank">rs1044010</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=73789;ExAC.Info.AN=126702;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=29558;ExAC.Info.AC_Hom=22080;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu3327Leu/c.9981G>C;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=68;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=Ex68;SAVANT_HGVS=c.9981G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.9981G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19447843">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2980,232,0:127	1|1:0,77:77:99:2885,231,0:127	1|0:34,40:74:99:1530,0,1078:127
1	19474975	.	T	G	12141.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2296108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296108" target="_blank">rs2296108</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7494+82A>C;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=In50/51;SAVANT_HGVS=c.7494+82A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.7494+82A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19474975">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,48:99:99:1360,0,1338:127	0/1:71,68:139:99:1820,0,1889:127	0/1:50,65:115:99:1840,0,1293:127
1	19486804	.	GA	G	459.32	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=104;MQ=70.03;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61579638;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61579638" target="_blank">rs61579638</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5407-30delT;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.5407-30delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.5407-30delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19486804">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,6:29:54:54,0,508:28	1|0:33,13:46:99:119,0,688:28	0|0:25,4:29:29:0,29,594:28
1	19487656	.	T	C	6793.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3748759;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748759" target="_blank">rs3748759</a>;ExAC.Info.AC=61634;ExAC.Info.AN=126642;ExAC.Info.AF=0.487;ExAC.Info.AC_Het=29344;ExAC.Info.AC_Hom=15211;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5176-15A>G;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:UBR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5176T>C;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:UBR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5176T>C;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:UBR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5176T>C;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=In37/38;SAVANT_HGVS=c.5176-15A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.5176-15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19487656">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,28:54:99:813,0,723:127	0/1:37,30:67:99:878,0,1227:127	0/1:23,41:64:99:1211,0,657:127
1	19491857	.	T	C	29774.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=454;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3748757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748757" target="_blank">rs3748757</a>;ExAC.Info.AC=81492;ExAC.Info.AN=126692;ExAC.Info.AF=0.643;ExAC.Info.AC_Het=27483;ExAC.Info.AC_Hom=26914;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4212-14A>G;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.4212-14A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.4212-14A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19491857">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,144:144:99:4807,433,0:127	1|1:1,160:161:99:5335,445,0:127	1|0:78,71:149:99:1836,0,2119:127
1	19499560	.	T	C	9437.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16862578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16862578" target="_blank">rs16862578</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=18215;ExAC.Info.AN=126700;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=14956;ExAC.Info.AC_Hom=1626;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr1107Ala/c.3319A>G;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.3319A>G_p.Thr1107Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.3319A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19499560">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,54:117:99:1587,0,1646:127	1|0:72,72:144:99:2197,0,1963:127	0|0:130,0:130:99:0,391,4318:127
1	19499835	.	G	C	33408.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=475;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs951908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=951908" target="_blank">rs951908</a>;ExAC.Info.AC=81132;ExAC.Info.AN=126678;ExAC.Info.AF=0.640;ExAC.Info.AC_Het=27584;ExAC.Info.AC_Hom=26704;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3166-35C>G;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3166-35C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.3166-35C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19499835">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,149:150:99:5436,441,0:127	1|1:0,173:173:99:6676,520,0:127	1|0:77,75:152:99:2372,0,2489:127
1	19499873	.	G	T	7855.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs952789;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=952789" target="_blank">rs952789</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3165+60C>A;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3165+60C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.3165+60C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19499873">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,52:115:99:1345,0,2029:127	0|0:135,1:136:99:0,371,5133:127	1|0:61,59:120:99:1583,0,1926:127
1	19499954	.	G	A	6971.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs952790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=952790" target="_blank">rs952790</a>;ExAC.Info.AC=9912;ExAC.Info.AN=126696;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8911;ExAC.Info.AC_Hom=474;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser1048Ser/c.3144C>T;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.3144C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.3144C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19499954">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,52:108:99:1507,0,1795:127	0|0:134,0:134:99:0,403,4909:127	1|0:58,45:103:99:1203,0,1704:127
1	19510394	.	A	G	21085.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3762396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3762396" target="_blank">rs3762396</a>;ExAC.Info.AC=81425;ExAC.Info.AN=126704;ExAC.Info.AF=0.643;ExAC.Info.AC_Het=27519;ExAC.Info.AC_Hom=26919;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2099-4T>C;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2099T>C;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2099-4T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.2099-4T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19510394">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3489,282,0:127	1|1:0,93:93:99:3604,280,0:127	1|0:41,41:82:99:1286,0,1165:127
1	19518659	.	G	A	4580.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11588032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11588032" target="_blank">rs11588032</a>;ExAC.Info.AC=55728;ExAC.Info.AN=126620;ExAC.Info.AF=0.440;ExAC.Info.AC_Het=29726;ExAC.Info.AC_Hom=12682;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1394+23C>T;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1394+23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.1394+23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19518659">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,16:36:99:448,0,591:127	0/1:22,33:55:99:946,0,645:127	0/1:12,25:37:99:752,0,320:127
1	19519887	.	G	C	9988.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=830;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72651403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72651403" target="_blank">rs72651403</a>;ExAC.Info.AC=40899;ExAC.Info.AN=126666;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=25886;ExAC.Info.AC_Hom=7377;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1143+40C>G;snpeff.Amino_Acid_length=5204;snpeff.Gene_Name=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375267;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375254;SAVANT_GENE=UBR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBR4" target="_blank">UBR4</a>;SAVANT_INFO=-/135.8kb/106/15.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1143+40C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBR4+c.1143+40C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19519887">View</a>	GT:AD:DP:GQ:PL:TP	0|0:259,0:259:99:0,777,8854:127	0|1:154,170:324:99:5013,0,4425:127	0|0:247,0:247:99:0,742,8288:127
1	19549343	.	G	C	2848.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2073106;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2073106" target="_blank">rs2073106</a>;ExAC.Info.AC=37509;ExAC.Info.AN=126626;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=23982;ExAC.Info.AC_Hom=6272;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2377-15C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.59+12290G>C;snpeff.Gene_Name=RP1-43E13.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437898;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2377G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000477853;SAVANT_GENE=KIAA0090;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0090" target="_blank">KIAA0090</a>;SAVANT_INFO=-/35.9kb/23/6.7kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2377-15C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0090+c.2377-15C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19549343">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,292,3460:127	0|1:52,50:102:99:1443,0,1537:127	0|0:97,0:97:99:0,291,3366:127
1	19565338	.	C	T	8301.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs709682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=709682" target="_blank">rs709682</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=17946;ExAC.Info.AN=126704;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=15008;ExAC.Info.AC_Hom=1460;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.60-1413C>T;snpeff.Gene_Name=RP1-43E13.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437898;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser347Asn/c.1040G>A;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000477853;SAVANT_GENE=KIAA0090;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0090" target="_blank">KIAA0090</a>;SAVANT_INFO=-/35.9kb/23/6.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1040G>A_p.Ser347Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0090+c.1040G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19565338">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,44:87:99:1687,0,2107:127	0|0:94,0:94:99:0,292,5438:127	1|0:32,44:76:99:1742,0,1496:127
1	19565344	.	C	G	8675.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs709683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=709683" target="_blank">rs709683</a>;ExAC.Info.AC=55737;ExAC.Info.AN=126704;ExAC.Info.AF=0.440;ExAC.Info.AC_Het=28733;ExAC.Info.AC_Hom=13491;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.60-1407C>G;snpeff.Gene_Name=RP1-43E13.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437898;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" 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target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aCt;snpeff.Amino_Acid_Change=p.Ser345Thr/c.1034G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000477853;SAVANT_GENE=KIAA0090;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0090" target="_blank">KIAA0090</a>;SAVANT_INFO=-/35.9kb/23/6.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1034G>C_p.Ser345Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0090+c.1034G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19565344">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,43:86:99:1665,0,2110:127	0|0:99,0:99:99:0,298,5563:127	1|0:34,46:80:99:1865,0,1518:127
1	19566881	.	C	T	6975.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12084825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12084825" target="_blank">rs12084825</a>;ExAC.Info.AC=16142;ExAC.Info.AN=126704;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=13600;ExAC.Info.AC_Hom=1270;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.190C>T;snpeff.Gene_Name=RP1-43E13.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437898;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" 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target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu232Glu/c.696G>A;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-43E132" target="_blank">RP1-43E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000477853;SAVANT_GENE=KIAA0090;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0090" target="_blank">KIAA0090</a>;SAVANT_INFO=-/35.9kb/23/6.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.696G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0090+c.696G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19566881">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,40:102:99:1023,0,1644:127	1|0:36,56:92:99:1567,0,980:127	0|0:75,0:75:99:0,225,2625:127
1	19568972	.	A	G	2626.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs710865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=710865" target="_blank">rs710865</a>;ExAC.Info.AC=56510;ExAC.Info.AN=126700;ExAC.Info.AF=0.446;ExAC.Info.AC_Het=28671;ExAC.Info.AC_Hom=13883;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.381-5T>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381T>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000477853;SAVANT_GENE=KIAA0090;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0090" target="_blank">KIAA0090</a>;SAVANT_INFO=-/35.9kb/23/6.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.381-5T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0090+c.381-5T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19568972">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,14:31:99:421,0,491:127	0|0:47,0:47:99:0,141,1684:127	1|0:15,18:33:99:518,0,441:127
1	19570426	.	C	G	2954.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2294944;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294944" target="_blank">rs2294944</a>;ExAC.Info.AC=13589;ExAC.Info.AN=126704;ExAC.Info.AF=0.107;ExAC.Info.AC_Het=12108;ExAC.Info.AC_Hom=767;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.286+18G>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=EMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMC1" target="_blank">EMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000477853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000477853;SAVANT_GENE=KIAA0090;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0090" target="_blank">KIAA0090</a>;SAVANT_INFO=-/35.9kb/23/6.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.286+18G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0090+c.286+18G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19570426">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,17:32:99:621,0,427:127	0|0:47,0:47:99:0,141,1774:127	1|0:13,23:36:99:762,0,368:127
1	19581226	.	G	A	5154.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs735026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=735026" target="_blank">rs735026</a>;ExAC.Info.AC=28605;ExAC.Info.AN=126696;ExAC.Info.AF=0.226;ExAC.Info.AC_Het=21265;ExAC.Info.AC_Hom=3634;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.29-50G>A;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330263;SAVANT_GENE=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;SAVANT_INFO=+/8.6kb/8/2.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.29-50G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRTO4+c.29-50G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19581226">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,43:96:99:1205,0,1690:127	0|0:92,0:92:99:0,276,3233:127	1|0:51,36:87:99:1026,0,1523:127
1	19582563	.	G	A	6404.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1557133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1557133" target="_blank">rs1557133</a>;ExAC.Info.AC=109597;ExAC.Info.AN=126692;ExAC.Info.AF=0.865;ExAC.Info.AC_Het=14415;ExAC.Info.AC_Hom=47221;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.191+18G>A;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330263;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330263;SAVANT_GENE=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;SAVANT_INFO=+/8.6kb/8/2.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.191+18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRTO4+c.191+18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19582563">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,19:38:99:557,0,492:123	0|1:29,18:47:99:559,0,975:123	1|1:1,55:56:99:1747,123,0:123
1	19583636	.	C	T	488.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1126682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1126682" target="_blank">rs1126682</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=21400;ExAC.Info.AN=126702;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=16974;ExAC.Info.AC_Hom=2206;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His90His/c.270C>T;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330263;SAVANT_GENE=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;SAVANT_INFO=+/8.6kb/8/2.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.270C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRTO4+c.270C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19583636">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1486:125	0|1:20,10:30:99:263,0,678:125	0|0:45,0:45:99:0,135,1555:125
1	19583684	.	C	T	1982.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1774074;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1774074" target="_blank">rs1774074</a>;ExAC.Info.AC=28579;ExAC.Info.AN=126684;ExAC.Info.AF=0.226;ExAC.Info.AC_Het=21017;ExAC.Info.AC_Hom=3638;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.273+45C>T;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330263;SAVANT_GENE=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;SAVANT_INFO=+/8.6kb/8/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.273+45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRTO4+c.273+45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19583684">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,9:27:99:248,0,585:63	0|0:21,0:21:63:0,63,840:63	1|0:15,12:27:99:329,0,561:63
1	19584004	.	G	A	6579.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1042380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1042380" target="_blank">rs1042380</a>;ExAC.Info.AC=28628;ExAC.Info.AN=126704;ExAC.Info.AF=0.226;ExAC.Info.AC_Het=21285;ExAC.Info.AC_Hom=3668;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu110Glu/c.330G>A;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330263;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330263;SAVANT_GENE=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;SAVANT_INFO=+/8.6kb/8/2.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.330G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRTO4+c.330G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19584004">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,52:98:99:1581,0,1411:127	0|0:93,0:93:99:0,280,3489:127	1|0:52,39:91:99:1108,0,1628:127
1	19584035	.	G	A	2098.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11811927;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11811927" target="_blank">rs11811927</a>;ExAC.Info.AC=21400;ExAC.Info.AN=126704;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=16967;ExAC.Info.AC_Hom=2205;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.341+20G>A;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330263;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330263;SAVANT_GENE=MRTO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRTO4" target="_blank">MRTO4</a>;SAVANT_INFO=+/8.6kb/8/2.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.341+20G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRTO4+c.341+20G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19584035">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2264:127	0|1:45,33:78:99:1068,0,1415:127	0|0:71,0:71:99:0,213,2477:127
1	19597420	.	G	T	1784.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=293;MQ=69.93;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12046875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12046875" target="_blank">rs12046875</a>;ExAC.Info.AC=22589;ExAC.Info.AN=126700;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=18331;ExAC.Info.AC_Hom=2107;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=114;snpeff.Amino_Acid_Change=c.-114C>A;snpeff.Amino_Acid_length=153;snpeff.Gene_Name=AKR7L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR7L" target="_blank">AKR7L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000420396;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000420396;SAVANT_GENE=AKR7L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR7L" target="_blank">AKR7L</a>;SAVANT_INFO=-/8.1kb/5/2.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-114C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR7L+c.-114C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19597420">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,279,3148:127	0|0:120,0:120:99:0,360,4273:127	0|1:44,36:80:99:911,0,1251:127
1	19609254	.	T	C	8958.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=413;MQ=69.72;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1738025;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1738025" target="_blank">rs1738025</a>;ExAC.Info.AC=104795;ExAC.Info.AN=126696;ExAC.Info.AF=0.827;ExAC.Info.AC_Het=17733;ExAC.Info.AC_Hom=43506;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.967T>C;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=AKR7A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR7A3" target="_blank">AKR7A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361640;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr323Ala/c.967A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=AKR7A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR7A3" target="_blank">AKR7A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361640;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361640;SAVANT_GENE=AKR7A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR7A3" target="_blank">AKR7A3</a>;SAVANT_INFO=-/6.7kb/7/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.967A>G_p.Thr323Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR7A3+c.967A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19609254">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,351,3611:127	0|1:74,81:155:99:2499,0,1945:127	0|1:74,67:141:99:2000,0,2019:127
1	19612477	.	C	T	6703.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=173;MQ=69.74;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2231198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2231198" target="_blank">rs2231198</a>;ExAC.Info.AC=53643;ExAC.Info.AN=126692;ExAC.Info.AF=0.423;ExAC.Info.AC_Het=28859;ExAC.Info.AC_Hom=12319;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.412C>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=AKR7A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR7A3" target="_blank">AKR7A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361640;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val138Met/c.412G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=AKR7A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR7A3" target="_blank">AKR7A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361640;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361640;SAVANT_GENE=AKR7A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR7A3" target="_blank">AKR7A3</a>;SAVANT_INFO=-/6.7kb/7/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.412G>A_p.Val138Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR7A3+c.412G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19612477">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,30:53:99:794,0,610:127	1|1:0,63:63:99:2076,189,0:127	0|0:57,0:57:99:0,171,1968:127
1	19638309	.	A	G	2056.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2227295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227295" target="_blank">rs2227295</a>;ExAC.Info.AC=89433;ExAC.Info.AN=124926;ExAC.Info.AF=0.716;ExAC.Info.AC_Het=23322;ExAC.Info.AC_Hom=30959;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.298+12T>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=AKR7A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR7A2" target="_blank">AKR7A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235835;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235835;SAVANT_GENE=AKR7A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR7A2" target="_blank">AKR7A2</a>;SAVANT_INFO=-/8.2kb/7/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.298+12T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR7A2+c.298+12T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19638309">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2775:127	0|0:92,0:92:99:0,277,3469:127	0|1:64,38:102:99:1047,0,1841:127
1	19651102	.	A	G	2292.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=426;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41264067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264067" target="_blank">rs41264067</a>;ExAC.Info.AC=31818;ExAC.Info.AN=126700;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=23020;ExAC.Info.AC_Hom=4383;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.165-25A>G;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=PQLC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PQLC2" target="_blank">PQLC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375153;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375153;SAVANT_GENE=PQLC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PQLC2" target="_blank">PQLC2</a>;SAVANT_INFO=+/17.0kb/8/2.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.165-25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PQLC2+c.165-25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19651102">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,423,4694:127	0|0:176,0:176:99:0,529,5732:127	0|1:60,49:109:99:1165,0,1629:127
1	19652063	.	G	A	1126.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11558390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11558390" target="_blank">rs11558390</a>;ExAC.Info.AC=31246;ExAC.Info.AN=126690;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=22593;ExAC.Info.AC_Hom=4297;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr123Thr/c.369G>A;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=PQLC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PQLC2" target="_blank">PQLC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375153;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375153;SAVANT_GENE=PQLC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PQLC2" target="_blank">PQLC2</a>;SAVANT_INFO=+/17.0kb/8/2.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.369G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PQLC2+c.369G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19652063">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1165:101	0|0:40,0:40:99:0,120,1435:101	0|1:11,21:32:99:582,0,253:101
1	19671766	.	T	A	5229.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72651465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72651465" target="_blank">rs72651465</a>;ExAC.Info.AC=657;ExAC.Info.AN=125674;ExAC.Info.AF=5.228e-03;ExAC.Info.AC_Het=648;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.676-20A>T;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=CAPZB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPZB" target="_blank">CAPZB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433834;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375142;SAVANT_GENE=CAPZB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPZB" target="_blank">CAPZB</a>;SAVANT_INFO=-/146.7kb/10/1.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.589-20A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPZB+c.589-20A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19671766">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,40:77:99:969,0,918:127	0|0:81,0:81:99:0,243,2799:127	1|0:33,43:76:99:1166,0,987:127
1	19683301	.	G	T	1114.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs169957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=169957" target="_blank">rs169957</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.559-56C>A;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=CAPZB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPZB" target="_blank">CAPZB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433834;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375142;SAVANT_GENE=CAPZB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPZB" target="_blank">CAPZB</a>;SAVANT_INFO=-/146.7kb/10/1.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.472-56C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPZB+c.472-56C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19683301">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1599:122	0|1:23,20:43:99:576,0,611:122	0|0:41,0:41:99:0,123,1553:122
1	19775246	.	C	T	2290.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10442634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10442634" target="_blank">rs10442634</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.91-29002G>A;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=CAPZB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPZB" target="_blank">CAPZB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433834;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375142;SAVANT_GENE=CAPZB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPZB" target="_blank">CAPZB</a>;SAVANT_INFO=-/146.7kb/10/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.4-29002G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPZB+c.4-29002G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19775246">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2560:127	0|1:54,45:99:99:1164,0,1601:127	0|0:104,0:104:99:0,312,3576:127
1	19810810	.	G	GC	1431.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11450129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11450129" target="_blank">rs11450129</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=38;snpeff.Amino_Acid_Change=c.-38_-39insG;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=CAPZB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPZB" target="_blank">CAPZB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433834;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375142;SAVANT_GENE=CAPZB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPZB" target="_blank">CAPZB</a>;SAVANT_INFO=-/146.7kb/10/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.3+1119dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPZB+c.3+1119dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19810810">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,178,1832:127	0|1:34,30:64:99:739,0,873:127	0|0:55,0:55:99:0,166,1707:127
1	19935118	.	T	TA	2589.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs138778783;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138778783" target="_blank">rs138778783</a>;ExAC.Info.AC=34701;ExAC.Info.AN=124408;ExAC.Info.AF=0.279;ExAC.Info.AC_Het=20093;ExAC.Info.AC_Hom=4448;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-20+11516_-20+11517insA;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=MINOS1-NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602662;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64+11516_64+11517insA;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65_66insA;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65_66insA;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000322753;SAVANT_GENE=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1" target="_blank">MINOS1</a>;SAVANT_INFO=+/32.8kb/4/3.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.64+11522dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MINOS1+c.64+11522dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19935118">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,6:17:99:153,0,273:127	0/1:19,18:37:99:409,0,453:127	0/1:17,22:39:99:508,0,374:127
1	19948507	.	A	G	2764.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs728611;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=728611" target="_blank">rs728611</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-20+24904A>G;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=MINOS1-NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602662;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.65-87A>G;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65A>G;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65A>G;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322753;SAVANT_GENE=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1" target="_blank">MINOS1</a>;SAVANT_INFO=+/32.8kb/4/3.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.65-87A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MINOS1+c.65-87A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19948507">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,18:43:99:424,0,689:127	1|0:23,21:44:99:680,0,623:127	0|0:54,0:54:99:0,162,1677:127
1	19948573	.	GT	G	1955.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs144510765;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144510765" target="_blank">rs144510765</a>;ExAC.Info.AC=8434;ExAC.Info.AN=126678;ExAC.Info.AF=0.067;ExAC.Info.AC_Het=7770;ExAC.Info.AC_Hom=326;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-20+24971delT;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=MINOS1-NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602662;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.65-20delT;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65delT;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65delT;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000322753;SAVANT_GENE=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1" target="_blank">MINOS1</a>;SAVANT_INFO=+/32.8kb/4/3.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.65-15delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MINOS1+c.65-15delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19948573">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1722:127	0|0:56,0:56:99:0,168,1779:127	0|1:21,38:59:99:1001,0,477:127
1	19950062	.	T	C	4283.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1737428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1737428" target="_blank">rs1737428</a>;ExAC.Info.AC=31115;ExAC.Info.AN=126704;ExAC.Info.AF=0.246;ExAC.Info.AC_Het=21207;ExAC.Info.AC_Hom=4950;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-20+26459T>C;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=MINOS1-NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602662;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.207T>C;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.207T>C;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.207T>C;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His69His/c.207T>C;snpeff.Amino_Acid_length=78;snpeff.Gene_Name=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322753;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322753;SAVANT_GENE=MINOS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1" target="_blank">MINOS1</a>;SAVANT_INFO=+/32.8kb/4/3.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.207T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MINOS1+c.207T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19950062">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,18:35:99:558,0,532:108	1|0:22,38:60:99:1198,0,651:108	0|0:36,0:36:99:0,108,1311:108
1	19981791	.	A	G	8572.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2294630;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294630" target="_blank">rs2294630</a>;ExAC.Info.AC=60249;ExAC.Info.AN=126692;ExAC.Info.AF=0.476;ExAC.Info.AC_Het=29501;ExAC.Info.AC_Hom=15234;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.171-26A>G;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=MINOS1-NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602662;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.276-26A>G;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289749;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276A>G;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289749;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CTCK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276A>G;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289749;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CTCK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276A>G;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289749;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CTCK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276A>G;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289749;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276A>G;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289749;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276A>G;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINOS1-NBL1" target="_blank">MINOS1-NBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289749;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289749;SAVANT_GENE=NBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBL1" target="_blank">NBL1</a>;SAVANT_INFO=+/13.9kb/4/0.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.276-26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBL1+c.276-26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:19981791">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,29:75:99:801,0,1344:127	0|1:25,43:68:99:1232,0,739:127	1|1:0,45:45:99:1557,135,0:127
1	20020993	.	A	G	15154.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4370779;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4370779" target="_blank">rs4370779</a>;ExAC.Info.AC=96523;ExAC.Info.AN=126688;ExAC.Info.AF=0.762;ExAC.Info.AC_Het=21569;ExAC.Info.AC_Hom=37378;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg478Arg/c.1434T>C;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=TMCO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO4" target="_blank">TMCO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294543;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294543;SAVANT_GENE=TMCO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO4" target="_blank">TMCO4</a>;SAVANT_INFO=-/117.7kb/16/3.0kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1434T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMCO4+c.1434T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20020993">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,34:80:99:1267,0,1827:127	0|1:46,62:108:99:2412,0,1752:127	1|1:0,65:65:99:2950,199,0:127
1	20020994	.	C	T	15154.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4515815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4515815" target="_blank">rs4515815</a>;ExAC.Info.AC=72744;ExAC.Info.AN=126690;ExAC.Info.AF=0.574;ExAC.Info.AC_Het=27894;ExAC.Info.AC_Hom=22349;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg478His/c.1433G>A;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=TMCO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO4" target="_blank">TMCO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294543;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294543;SAVANT_GENE=TMCO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO4" target="_blank">TMCO4</a>;SAVANT_INFO=-/117.7kb/16/3.0kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1433G>A_p.Arg478His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMCO4+c.1433G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20020994">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,33:79:99:1267,0,1827:127	0|1:46,58:104:99:2412,0,1752:127	1|1:0,65:65:99:2950,199,0:127
1	20097822	.	G	A	10398.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs11551819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11551819" target="_blank">rs11551819</a>;ExAC.Info.AC=14212;ExAC.Info.AN=126696;ExAC.Info.AF=0.112;ExAC.Info.AC_Het=12329;ExAC.Info.AC_Hom=936;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp111Asp/c.333C>T;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=TMCO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO4" target="_blank">TMCO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294543;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294543;SAVANT_GENE=TMCO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO4" target="_blank">TMCO4</a>;SAVANT_INFO=-/117.7kb/16/3.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.333C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMCO4+c.333C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20097822">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1705,150,0:127	1|0:37,21:58:99:592,0,1200:127	1|1:0,58:58:99:1837,174,0:127
1	20097941	.	G	T	4845.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10917536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10917536" target="_blank">rs10917536</a>;ExAC.Info.AC=44894;ExAC.Info.AN=126698;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=28567;ExAC.Info.AC_Hom=8042;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Aag;snpeff.Amino_Acid_Change=p.Gln72Lys/c.214C>A;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=TMCO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO4" target="_blank">TMCO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294543;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294543;SAVANT_GENE=TMCO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO4" target="_blank">TMCO4</a>;SAVANT_INFO=-/117.7kb/16/3.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.214C>A_p.Gln72Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMCO4+c.214C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20097941">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:986,93,0:53	1|0:26,16:42:99:433,0,878:53	1|1:0,18:18:54:641,54,0:53
1	20140973	.	G	T	5698.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35541730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35541730" target="_blank">rs35541730</a>;ExAC.Info.AC=3357;ExAC.Info.AN=126704;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=3206;ExAC.Info.AC_Hom=71;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.114G>T;snpeff.Gene_Name=RP11-91K11.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-91K112" target="_blank">RP11-91K112</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000454736;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Acc;snpeff.Amino_Acid_Change=p.Pro208Thr/c.622C>A;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=RNF186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-91K112" target="_blank">RP11-91K112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375121;SAVANT_GENE=RNF186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF186" target="_blank">RNF186</a>;SAVANT_INFO=-/1.3kb/1/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.622C>A_p.Pro208Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF186+c.622C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20140973">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,42:83:99:1089,0,1115:127	1|0:51,40:91:99:1101,0,1491:127	0|0:84,0:84:99:0,252,3069:127
1	20141283	.	C	T	4343.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1541184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1541184" target="_blank">rs1541184</a>;ExAC.Info.AC=13897;ExAC.Info.AN=126684;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=11034;ExAC.Info.AC_Hom=1402;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.187+237C>T;snpeff.Gene_Name=RP11-91K11.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-91K112" target="_blank">RP11-91K112</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000454736;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala104Ala/c.312G>A;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=RNF186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-91K112" target="_blank">RP11-91K112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375121;SAVANT_GENE=RNF186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF186" target="_blank">RNF186</a>;SAVANT_INFO=-/1.3kb/1/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.312G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF186+c.312G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20141283">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,27:55:99:847,0,816:127	0|0:57,0:57:99:0,171,2056:127	1|0:22,31:53:99:937,0,663:127
1	20141528	.	C	T	6844.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1541185;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1541185" target="_blank">rs1541185</a>;ExAC.Info.AC=35752;ExAC.Info.AN=126682;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=24508;ExAC.Info.AC_Hom=5511;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.187+482C>T;snpeff.Gene_Name=RP11-91K11.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-91K112" target="_blank">RP11-91K112</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000454736;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala23Thr/c.67G>A;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=RNF186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-91K112" target="_blank">RP11-91K112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375121;SAVANT_GENE=RNF186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF186" target="_blank">RNF186</a>;SAVANT_INFO=-/1.3kb/1/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.67G>A_p.Ala23Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF186+c.67G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20141528">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,38:78:99:1101,0,1137:127	0|0:72,0:72:99:0,216,2455:127	1|0:41,44:85:99:1319,0,1059:127
1	20216860	.	G	A	29001.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10799593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10799593" target="_blank">rs10799593</a>;ExAC.Info.AC=61386;ExAC.Info.AN=125238;ExAC.Info.AF=0.490;ExAC.Info.AC_Het=29824;ExAC.Info.AC_Hom=15747;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.222-18G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=OTUD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTUD3" target="_blank">OTUD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375120;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Cys-loop];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=OTUD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTUD3" target="_blank">OTUD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375120;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Cys-loop];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=OTUD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTUD3" target="_blank">OTUD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375120;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:OTU];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=OTUD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTUD3" target="_blank">OTUD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375120;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:OTU];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=OTUD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTUD3" target="_blank">OTUD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375120;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:OTU];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=OTUD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTUD3" target="_blank">OTUD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375120;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:OTU];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=OTUD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTUD3" target="_blank">OTUD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375120;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375120;SAVANT_GENE=OTUD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTUD3" target="_blank">OTUD3</a>;SAVANT_INFO=+/30.4kb/8/6.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.222-18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTUD3+c.222-18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20216860">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3250,279,0:127	1|1:0,131:131:99:4709,392,0:127	1|1:0,109:109:99:4116,328,0:127
1	20246876	.	C	T	2280.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61729970;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61729970" target="_blank">rs61729970</a>;ExAC.Info.AC=11865;ExAC.Info.AN=126704;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=10645;ExAC.Info.AC_Hom=606;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353C>T;snpeff.Amino_Acid_length=142;snpeff.Gene_Name=PLA2G2E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2E" target="_blank">PLA2G2E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375116;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353C>T;snpeff.Amino_Acid_length=142;snpeff.Gene_Name=PLA2G2E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2E" target="_blank">PLA2G2E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375116;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353C>T;snpeff.Amino_Acid_length=142;snpeff.Gene_Name=PLA2G2E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2E" target="_blank">PLA2G2E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375116;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg118His/c.353G>A;snpeff.Amino_Acid_length=142;snpeff.Gene_Name=PLA2G2E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2E" target="_blank">PLA2G2E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375116;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375116;SAVANT_GENE=PLA2G2E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2E" target="_blank">PLA2G2E</a>;SAVANT_INFO=-/3.6kb/4/0.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.353G>A_p.Arg118His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G2E+c.353G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20246876">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2555:127	0|1:33,41:74:99:1159,0,1011:127	0|0:47,0:47:99:0,141,1531:127
1	20250038	.	G	A	424.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41264125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264125" target="_blank">rs41264125</a>;ExAC.Info.AC=10;ExAC.Info.AN=105892;ExAC.Info.AF=9.444e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15G>A;snpeff.Amino_Acid_length=142;snpeff.Gene_Name=PLA2G2E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2E" target="_blank">PLA2G2E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375116;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15G>A;snpeff.Amino_Acid_length=142;snpeff.Gene_Name=PLA2G2E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2E" target="_blank">PLA2G2E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375116;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His5His/c.15C>T;snpeff.Amino_Acid_length=142;snpeff.Gene_Name=PLA2G2E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2E" target="_blank">PLA2G2E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375116;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375116;SAVANT_GENE=PLA2G2E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2E" target="_blank">PLA2G2E</a>;SAVANT_INFO=-/3.6kb/4/0.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.15C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G2E+c.15C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20250038">View</a>	GT:AD:DP:GQ:PL:TP	0|0:21,0:21:63:0,63,666:62	0|0:29,0:29:87:0,87,1019:62	0|1:11,8:19:99:231,0,285:62
1	20304926	.	G	A	4032.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=372;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4744" target="_blank">rs4744</a>;cosmic68.Histology_subtype=large_cell;ExAC.Info.AC=22710;ExAC.Info.AN=125098;ExAC.Info.AF=0.182;ExAC.Info.AC_Het=17016;ExAC.Info.AC_Hom=2563;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr44Tyr/c.132C>T;snpeff.Amino_Acid_length=144;snpeff.Gene_Name=PLA2G2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2A" target="_blank">PLA2G2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375111;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375111;SAVANT_GENE=PLA2G2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2A" target="_blank">PLA2G2A</a>;SAVANT_INFO=-/5.0kb/6/1.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.132C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G2A+c.132C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20304926">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,273,2993:127	0|1:79,74:153:99:2035,0,2103:127	0|0:128,0:128:99:0,385,4377:127
1	20411332	.	C	T	1904.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Fleck_retina|_familial_benign|_228980_(3);dbSNP139.ID=rs2020887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2020887" target="_blank">rs2020887</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=41949;ExAC.Info.AN=126704;ExAC.Info.AF=0.331;ExAC.Info.AC_Het=27165;ExAC.Info.AC_Hom=7391;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9C>T;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=PLA2G5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G5" target="_blank">PLA2G5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375108;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9C>T;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=PLA2G5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G5" target="_blank">PLA2G5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375108;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly3Gly/c.9C>T;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=PLA2G5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G5" target="_blank">PLA2G5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375108;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375108;SAVANT_GENE=PLA2G5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G5" target="_blank">PLA2G5</a>;SAVANT_INFO=+/21.0kb/5/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.9C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G5+c.9C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20411332">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,170,1862:127	0|1:32,35:67:99:971,0,879:127	0|0:52,0:52:99:0,156,1789:127
1	20442054	.	T	C	6081.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs584367;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=584367" target="_blank">rs584367</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Reduced_BMI|_in_COPD|_association_with;hgmd_2014.2.OMIM_ID=605630;hgmd_2014.2.PubMed=16002569;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16002569" target="_blank">16002569</a>;ExAC.Info.AC=83564;ExAC.Info.AN=126704;ExAC.Info.AF=0.660;ExAC.Info.AC_Het=26888;ExAC.Info.AC_Hom=28333;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.238T>C;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=PLA2G2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2D" target="_blank">PLA2G2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375105;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.238T>C;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=PLA2G2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2D" target="_blank">PLA2G2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375105;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.238T>C;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=PLA2G2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2D" target="_blank">PLA2G2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser80Gly/c.238A>G;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=PLA2G2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2D" target="_blank">PLA2G2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375105;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375105;SAVANT_GENE=PLA2G2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2D" target="_blank">PLA2G2D</a>;SAVANT_INFO=-/7.6kb/4/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.238A>G_p.Ser80Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G2D+c.238A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20442054">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,34:68:99:954,0,994:127	0/1:36,29:65:99:856,0,1080:127	0/1:31,22:53:99:610,0,879:127
1	20466830	.	T	C	16070.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs12065685;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12065685" target="_blank">rs12065685</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.169+119T>C;snpeff.Amino_Acid_length=211;snpeff.Gene_Name=PLA2G2F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2F" target="_blank">PLA2G2F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375102;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375102;SAVANT_GENE=PLA2G2F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2F" target="_blank">PLA2G2F</a>;SAVANT_INFO=+/11.1kb/5/2.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.169+119T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G2F+c.169+119T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20466830">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2297,198,0:127	1|0:41,38:79:99:1202,0,1325:127	1|1:0,78:78:99:2740,233,0:127
1	20470148	.	C	T	2400.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=80;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6657574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6657574" target="_blank">rs6657574</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.314+65C>T;snpeff.Amino_Acid_length=211;snpeff.Gene_Name=PLA2G2F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2F" target="_blank">PLA2G2F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375102;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315C>T;snpeff.Amino_Acid_length=211;snpeff.Gene_Name=PLA2G2F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2F" target="_blank">PLA2G2F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375102;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315C>T;snpeff.Amino_Acid_length=211;snpeff.Gene_Name=PLA2G2F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2F" target="_blank">PLA2G2F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375102;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315C>T;snpeff.Amino_Acid_length=211;snpeff.Gene_Name=PLA2G2F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2F" target="_blank">PLA2G2F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375102;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375102;SAVANT_GENE=PLA2G2F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2F" target="_blank">PLA2G2F</a>;SAVANT_INFO=+/11.1kb/5/2.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.314+65C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G2F+c.314+65C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20470148">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,10:18:99:300,0,263:84	1|0:16,18:34:99:549,0,495:84	0|0:28,0:28:84:0,84,999:84
1	20490518	.	T	C	10313.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6426616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6426616" target="_blank">rs6426616</a>;ExAC.Info.AC=74926;ExAC.Info.AN=124958;ExAC.Info.AF=0.600;ExAC.Info.AC_Het=28369;ExAC.Info.AC_Hom=22459;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln140Arg/c.419A>G;snpeff.Amino_Acid_length=150;snpeff.Gene_Name=PLA2G2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2C" target="_blank">PLA2G2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247992;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247992;SAVANT_GENE=PLA2G2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2C" target="_blank">PLA2G2C</a>;SAVANT_INFO=-/11.2kb/3/0.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.419A>G_p.Gln140Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G2C+c.419A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20490518">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,50:109:99:1215,0,1652:127	0/1:69,62:131:99:1615,0,1881:127	0/1:47,51:98:99:1377,0,1391:127
1	20501582	.	G	A	1056.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs12139100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12139100" target="_blank">rs12139100</a>;ExAC.Info.AC=26115;ExAC.Info.AN=125274;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=19710;ExAC.Info.AC_Hom=3182;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cga/Tga;snpeff.Amino_Acid_Change=p.Arg36*/c.106C>T;snpeff.Amino_Acid_length=150;snpeff.Gene_Name=PLA2G2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2C" target="_blank">PLA2G2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247992;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(PLA2G2C|ENSG00000187980|1|1.00);NMD=(PLA2G2C|ENSG00000187980|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000247992;SAVANT_GENE=PLA2G2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2C" target="_blank">PLA2G2C</a>;SAVANT_INFO=-/11.2kb/3/0.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.106C>T_p.Arg36X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G2C+c.106C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20501582">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,183,2158:127	0|0:83,0:83:99:0,249,2867:127	0|1:29,20:49:99:547,0,849:127
1	20501670	.	G	A	2502.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41264517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264517" target="_blank">rs41264517</a>;ExAC.Info.AC=3128;ExAC.Info.AN=125344;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=3028;ExAC.Info.AC_Hom=50;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser6Ser/c.18C>T;snpeff.Amino_Acid_length=150;snpeff.Gene_Name=PLA2G2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2C" target="_blank">PLA2G2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247992;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247992;SAVANT_GENE=PLA2G2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G2C" target="_blank">PLA2G2C</a>;SAVANT_INFO=-/11.2kb/3/0.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.18C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G2C+c.18C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20501670">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,9:25:99:260,0,532:78	1|0:25,18:43:99:529,0,732:78	0|0:26,0:26:78:0,78,970:78
1	20649814	.	T	C	6440.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4655194;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4655194" target="_blank">rs4655194</a>;ExAC.Info.AC=10659;ExAC.Info.AN=25464;ExAC.Info.AF=0.419;ExAC.Info.AC_Het=3185;ExAC.Info.AC_Hom=1769;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.967-35T>C;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375089;SAVANT_GENE=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;SAVANT_INFO=+/64.0kb/22/4.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.967-35T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA5B1+c.967-35T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20649814">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,48:87:99:1407,0,1140:127	0|0:103,0:103:99:0,310,3761:127	1|0:35,35:70:99:1053,0,986:127
1	20656824	.	A	G	5138.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2072752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072752" target="_blank">rs2072752</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=5685;ExAC.Info.AN=39964;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=3563;ExAC.Info.AC_Hom=538;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1406A>G;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1406A>G;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1406A>G;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1406A>G;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1406A>G;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn469Ser/c.1406A>G;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375089;SAVANT_GENE=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;SAVANT_INFO=+/64.0kb/22/4.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1406A>G_p.Asn469Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA5B1+c.1406A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20656824">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,32:65:99:958,0,813:127	0|0:69,0:69:99:0,207,2380:127	1|0:39,24:63:99:746,0,1144:127
1	20657352	.	T	C	6062.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2072753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072753" target="_blank">rs2072753</a>;ExAC.Info.AC=13038;ExAC.Info.AN=29148;ExAC.Info.AF=0.447;ExAC.Info.AC_Het=5978;ExAC.Info.AC_Hom=3063;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1458-10T>C;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458T>C;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458T>C;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458T>C;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458T>C;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458T>C;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375089;SAVANT_GENE=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;SAVANT_INFO=+/64.0kb/22/4.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1458-10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA5B1+c.1458-10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20657352">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,40:88:99:1161,0,1278:127	0|0:96,0:96:99:0,288,3331:127	1|0:41,49:90:99:1318,0,1168:127
1	20662938	.	A	G	4778.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10916769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10916769" target="_blank">rs10916769</a>;ExAC.Info.AC=5362;ExAC.Info.AN=27506;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=3634;ExAC.Info.AC_Hom=538;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys634Arg/c.1901A>G;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375089;SAVANT_GENE=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;SAVANT_INFO=+/64.0kb/22/4.5kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1901A>G_p.Lys634Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA5B1+c.1901A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20662938">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,22:59:99:647,0,1064:127	0|0:88,0:88:99:0,264,2926:127	1|0:22,33:55:99:1055,0,578:127
1	20671961	.	G	A	5073.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11582960;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11582960" target="_blank">rs11582960</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=7892;ExAC.Info.AN=26894;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=5087;ExAC.Info.AC_Hom=1135;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg880His/c.2639G>A;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375089;SAVANT_GENE=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;SAVANT_INFO=+/64.0kb/22/4.5kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2639G>A_p.Arg880His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA5B1+c.2639G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20671961">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,31:59:99:895,0,820:127	0|0:89,0:89:99:0,267,3029:127	1|0:43,26:69:99:666,0,1318:127
1	20680718	.	G	A	3231.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2072751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072751" target="_blank">rs2072751</a>;ExAC.Info.AC=5520;ExAC.Info.AN=30368;ExAC.Info.AF=0.182;ExAC.Info.AC_Het=3530;ExAC.Info.AC_Hom=556;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu1209Lys/c.3625G>A;snpeff.Amino_Acid_length=1220;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375079;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375089;SAVANT_GENE=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;SAVANT_INFO=+/64.0kb/22/4.5kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.3625G>A_p.Glu1209Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA5B1+c.3625G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20680718">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,31:69:99:808,0,1109:127	0|0:82,0:82:99:0,246,2744:127	1|0:44,21:65:99:512,0,1226:127
1	20680760	.	A	G	2589.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs230180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=230180" target="_blank">rs230180</a>;ExAC.Info.AC=12130;ExAC.Info.AN=33078;ExAC.Info.AF=0.367;ExAC.Info.AC_Het=3395;ExAC.Info.AC_Hom=1736;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375089;SAVANT_GENE=VWA5B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA5B1" target="_blank">VWA5B1</a>;SAVANT_INFO=+/64.0kb/22/4.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*4A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA5B1+c.*4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20680760">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,17:46:99:465,0,864:127	0|0:67,0:67:99:0,201,2293:127	1|0:32,16:48:99:446,0,932:127
1	20827216	.	C	T	5106.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs595980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=595980" target="_blank">rs595980</a>;ExAC.Info.AC=18242;ExAC.Info.AN=126630;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=14462;ExAC.Info.AC_Hom=1708;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026C>T;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=MUL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUL1" target="_blank">MUL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264198;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala342Ala/c.1026G>A;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=MUL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUL1" target="_blank">MUL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264198;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264198;SAVANT_GENE=MUL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUL1" target="_blank">MUL1</a>;SAVANT_INFO=-/8.7kb/4/2.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1026G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUL1+c.1026G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20827216">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,22:54:99:614,0,1006:127	0/1:31,25:56:99:710,0,1013:127	0/1:25,20:45:99:584,0,790:127
1	20829808	.	TA	T	2072.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs60519890;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60519890" target="_blank">rs60519890</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.121-7delT;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=MUL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUL1" target="_blank">MUL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264198;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121delA;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=MUL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUL1" target="_blank">MUL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264198;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121delA;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=MUL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUL1" target="_blank">MUL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264198;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121delA;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=MUL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUL1" target="_blank">MUL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264198;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121delA;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=MUL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUL1" target="_blank">MUL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264198;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121delT;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=MUL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUL1" target="_blank">MUL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264198;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000264198;SAVANT_GENE=MUL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUL1" target="_blank">MUL1</a>;SAVANT_INFO=-/8.7kb/4/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.121-7delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUL1+c.121-7delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20829808">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,11:22:99:233,0,230:101	0/1:18,17:35:99:362,0,363:101	0/1:6,14:20:99:340,0,101:101
1	20915172	.	C	T	3698.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs532545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=532545" target="_blank">rs532545</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_gene_expression;hgmd_2014.2.OMIM_ID=123920;hgmd_2014.2.PubMed=16446974;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16446974" target="_blank">16446974</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16446974" target="_blank">16446974</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20915172">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,1:72:99:0,180,2236:127	0|1:42,39:81:99:996,0,1145:127	0|1:49,34:83:99:873,0,1335:127
1	20915418	.	C	G	5912.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs603412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=603412" target="_blank">rs603412</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=603412" target="_blank">rs603412</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20915418">View</a>	GT:AD:DP:GQ:PL:TP	0|0:158,0:158:99:0,475,5559:127	0|1:112,52:164:99:1401,0,3289:127	0|1:62,56:118:99:1575,0,1793:127
1	20915531	.	A	G	5226.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs602950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=602950" target="_blank">rs602950</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_gene_expression;hgmd_2014.2.OMIM_ID=123920;hgmd_2014.2.PubMed=16446974;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16446974" target="_blank">16446974</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=92;snpeff.Amino_Acid_Change=c.-92A>G;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375071;SAVANT_GENE=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;SAVANT_INFO=+/30.0kb/4/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-92A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDA+c.-92A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20915531">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,280,3563:127	0|1:71,39:110:99:1154,0,2262:127	0|1:52,46:98:99:1479,0,1586:127
1	20915589	.	TC	T	3668.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3215400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215400" target="_blank">rs3215400</a>;ExAC.Info.AC=68237;ExAC.Info.AN=126660;ExAC.Info.AF=0.539;ExAC.Info.AC_Het=30917;ExAC.Info.AC_Hom=18442;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=33;snpeff.Amino_Acid_Change=c.-33delC;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000375071;SAVANT_GENE=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;SAVANT_INFO=+/30.0kb/4/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-31delC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDA+c.-31delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20915589">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1958:127	0|1:45,32:77:99:889,0,1372:127	0|1:37,34:71:99:970,0,1105:127
1	20915701	.	A	C	5656.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2072671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072671" target="_blank">rs2072671</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=ara-C_resistance|_association_with;hgmd_2014.2.OMIM_ID=123920;hgmd_2014.2.PubMed=9590659;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=9590659" target="_blank">9590659</a>;ExAC.Info.AC=34668;ExAC.Info.AN=126700;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=24016;ExAC.Info.AC_Hom=5297;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.79A>C;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.79A>C;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.79A>C;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.79A>C;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.79A>C;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Cag;snpeff.Amino_Acid_Change=p.Lys27Gln/c.79A>C;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375071;SAVANT_GENE=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;SAVANT_INFO=+/30.0kb/4/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.79A>C_p.Lys27Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDA+c.79A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20915701">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,375,4007:127	0|1:86,53:139:99:1482,0,2396:127	0|1:54,48:102:99:1366,0,1550:127
1	20940258	.	T	A	40581.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=514;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs488991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=488991" target="_blank">rs488991</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.267-77T>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375071;SAVANT_GENE=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;SAVANT_INFO=+/30.0kb/4/1.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.267-77T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDA+c.267-77T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20940258">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,158:158:99:5320,475,0:127	1|1:0,192:192:99:6507,576,0:127	1|1:0,164:164:99:5637,493,0:127
1	20944909	.	G	A	1070.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61781969;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61781969" target="_blank">rs61781969</a>;ExAC.Info.AC=35116;ExAC.Info.AN=125566;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=16756;ExAC.Info.AC_Hom=3315;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.325-36G>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.325G>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.325G>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.325G>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.325G>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375071;SAVANT_GENE=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;SAVANT_INFO=+/30.0kb/4/1.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.325-36G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDA+c.325-36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20944909">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1862:127	0|0:94,0:94:99:0,282,2994:127	0|1:20,21:41:99:554,0,482:127
1	20944922	.	C	T	1258.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61781970;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61781970" target="_blank">rs61781970</a>;ExAC.Info.AC=36640;ExAC.Info.AN=126404;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=20774;ExAC.Info.AC_Hom=4251;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.325-23C>T;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.325C>T;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.325C>T;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.325C>T;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CMP/dCMP_deaminase_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.325C>T;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375071;SAVANT_GENE=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;SAVANT_INFO=+/30.0kb/4/1.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.325-23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDA+c.325-23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20944922">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2258:127	0|0:103,0:103:99:0,309,3303:127	0|1:24,24:48:99:648,0,637:127
1	20945055	.	C	T	1840.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1048977;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048977" target="_blank">rs1048977</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=39146;ExAC.Info.AN=126700;ExAC.Info.AF=0.309;ExAC.Info.AC_Het=26673;ExAC.Info.AC_Hom=6171;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr145Thr/c.435C>T;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375071;SAVANT_GENE=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;SAVANT_INFO=+/30.0kb/4/1.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.435C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDA+c.435C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20945055">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,274,3591:127	0|0:112,0:112:99:0,337,3941:127	0|1:27,33:60:99:939,0,970:127
1	20945064	.	G	A	6195.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72650823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72650823" target="_blank">rs72650823</a>;ExAC.Info.AC=111;ExAC.Info.AN=126700;ExAC.Info.AF=8.761e-04;ExAC.Info.AC_Het=111;ExAC.Info.AC_Hom=0;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3;snpeff.Amino_Acid_Change=c.*3G>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375071;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375071;SAVANT_GENE=CDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDA" target="_blank">CDA</a>;SAVANT_INFO=+/30.0kb/4/1.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*3G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDA+c.*3G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20945064">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,46:87:99:1263,0,1201:127	0|0:104,1:105:99:0,281,3791:127	1|0:32,26:58:99:799,0,1265:127
1	20960230	.	C	T	5336.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);dbSNP139.ID=rs45530340;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45530340" target="_blank">rs45530340</a>;ExAC.Info.AC=10626;ExAC.Info.AN=98434;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=2454;ExAC.Info.AC_Hom=303;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.189C>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu63Leu/c.189C>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.189C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.189C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20960230">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:906,78,0:78	1|0:25,14:39:99:353,0,810:78	1|0:17,17:34:99:508,0,592:78
1	20960385	.	A	T	1718.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs148871409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148871409" target="_blank">rs148871409</a>;ExAC.Info.AC=3407;ExAC.Info.AN=121006;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=2017;ExAC.Info.AC_Hom=56;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344A>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cTg;snpeff.Amino_Acid_Change=p.Gln115Leu/c.344A>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.344A>T_p.Gln115Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.344A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20960385">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,279,2983:127	0|0:104,0:104:99:0,313,3725:127	0|1:44,31:75:99:878,0,1224:127
1	20964270	.	C	G	2956.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);dbSNP139.ID=rs2298297;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298297" target="_blank">rs2298297</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.388-65C>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388C>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388C>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388C>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388C>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388C>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388C>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388C>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388C>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.388-65C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.388-65C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20964270">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,292,3475:127	0|0:161,0:161:99:0,483,5839:127	0|1:49,55:104:99:1497,0,1598:127
1	20964328	.	A	G	36534.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=551;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);dbSNP139.ID=rs2298298;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298298" target="_blank">rs2298298</a>;ExAC.Info.AC=109369;ExAC.Info.AN=126702;ExAC.Info.AF=0.863;ExAC.Info.AC_Het=14589;ExAC.Info.AC_Hom=47351;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.388-7A>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388A>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388A>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388A>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388A>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388A>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388A>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388A>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388A>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388A>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.388-7A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.388-7A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20964328">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,163:163:99:5260,489,0:127	1|1:0,234:234:99:7901,703,0:127	1|0:81,73:154:99:2077,0,2448:127
1	20971980	.	C	CA	2144.93	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.333;AN=3;DP=20;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=./1;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);dbSNP139.ID=rs11379920;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11379920" target="_blank">rs11379920</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.960-72_960-71insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3981+98_3981+97insT;snpeff.Gene_Name=PINK1-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451424;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.960-56dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.960-56dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20971980">View</a>	GT:AD:DP:GQ:PL	./0:1,0:6:1:336,208,192	./1:0,8:11:73:290,114,73	./0:2,0:3:16:101,80,86
1	20971980	.	C	CAAAA	2144.93	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.600;AN=5;DP=20;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./1;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.960-72_960-71insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3981+98_3981+97insTTTT;snpeff.Gene_Name=PINK1-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451424;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960_961insAAAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.960-59_960-56dupAAAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.960-59_960-56dupAAAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20971980">View</a>	GT:AD:DP:GQ:PL	0/1:1,5:6:1:336,0,1	./1:0,3:11:73:290,136,196	0/1:2,1:3:16:101,0,62
1	20972048	.	G	A	9770.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);dbSNP139.ID=rs3131713;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3131713" target="_blank">rs3131713</a>;ExAC.Info.AC=109404;ExAC.Info.AN=126702;ExAC.Info.AF=0.863;ExAC.Info.AC_Het=14566;ExAC.Info.AC_Hom=47331;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.960-5G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3981+30C>T;snpeff.Gene_Name=PINK1-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451424;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.960G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.960-5G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.960-5G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20972048">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1250,112,0:111	1|1:0,55:55:99:1911,164,0:111	1|0:13,20:33:99:614,0,373:111
1	20972304	.	GGTTTTGTGTTCTAA	G	26412.98	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=351;MQ=69.94;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);dbSNP139.ID=rs67251778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67251778" target="_blank">rs67251778</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1123+89_1123+102delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3880-139_3880-126delTTAGAACACAAAAC;snpeff.Gene_Name=PINK1-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451424;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124_1137delGTTTTGTGTTCTAA;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1123+91_1123+104del14;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.1123+91_1123+104del14+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20972304">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:4185,281,0:127	1|0:74,65:139:99:2509,0,2874:127	1|0:64,55:119:99:2110,0,2513:127
1	20972340	.	G	A	20879.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);dbSNP139.ID=rs3131714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3131714" target="_blank">rs3131714</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1123+124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3880-161C>T;snpeff.Gene_Name=PINK1-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451424;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1123+124G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.1123+124G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20972340">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2641,228,0:127	1|1:0,112:112:99:3807,336,0:127	1|0:41,47:88:99:1333,0,1249:127
1	20972373	.	CG	C	7167.98	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);dbSNP139.ID=rs141853877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141853877" target="_blank">rs141853877</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1123+158delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3880-195delC;snpeff.Gene_Name=PINK1-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451424;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124delG;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1123+161delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.1123+161delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20972373">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:964,102,0:101	1|0:41,29:70:99:607,0,1142:101	1|0:22,29:51:99:669,0,575:101
1	20977221	.	A	T	25596.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);dbSNP139.ID=rs686658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=686658" target="_blank">rs686658</a>;ExAC.Info.AC=109138;ExAC.Info.AN=126638;ExAC.Info.AF=0.862;ExAC.Info.AC_Het=13861;ExAC.Info.AC_Hom=44613;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1466T>A;snpeff.Gene_Name=PINK1-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1-AS" target="_blank">PINK1-AS</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451424;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=37;snpeff.Amino_Acid_Change=c.*37A>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1-AS" target="_blank">PINK1-AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*37A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.*37A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20977221">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3808,330,0:127	1|1:0,134:134:99:4763,403,0:127	1|0:74,69:143:99:1927,0,2105:127
1	20977365	.	C	G	17280.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Parkinson_disease_6|_early_onset|_605909_(3);dbSNP139.ID=rs513414;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=513414" target="_blank">rs513414</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1322G>C;snpeff.Gene_Name=PINK1-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1-AS" target="_blank">PINK1-AS</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451424;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=181;snpeff.Amino_Acid_Change=c.*181C>G;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1-AS" target="_blank">PINK1-AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321556;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321556;SAVANT_GENE=PINK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PINK1" target="_blank">PINK1</a>;SAVANT_INFO=+/18.1kb/8/2.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*181C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PINK1+c.*181C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20977365">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3283,279,0:127	1|1:0,81:81:99:3008,243,0:127	1|0:57,40:97:99:1133,0,1789:127
1	20978832	.	T	C	65825.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=1037;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_Ir|_614507_(3);dbSNP139.ID=rs6893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6893" target="_blank">rs6893</a>;ExAC.Info.AC=105988;ExAC.Info.AN=124668;ExAC.Info.AF=0.850;ExAC.Info.AC_Het=9032;ExAC.Info.AC_Hom=29555;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=40;snpeff.Amino_Acid_Change=c.*40A>G;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375048;SAVANT_GENE=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;SAVANT_INFO=-/9.7kb/11/2.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*40A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDOST+c.*40A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20978832">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,279:279:99:10054,838,0:127	1|1:0,390:390:99:14266,1172,0:127	1|0:178,190:368:99:5796,0,5367:127
1	20979307	.	G	GT	18571.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_Ir|_614507_(3);dbSNP139.ID=rs11428148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11428148" target="_blank">rs11428148</a>;ExAC.Info.AC=70433;ExAC.Info.AN=126696;ExAC.Info.AF=0.556;ExAC.Info.AC_Het=30317;ExAC.Info.AC_Hom=20041;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1114+37_1114+36insA;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115_1116insT;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115_1116insT;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115_1116insT;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115_1116insT;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115_1116insT;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115_1116insT;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115_1116insT;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115_1116insT;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115_1116insT;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115_1116insT;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1115_1116insT;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375048;SAVANT_GENE=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;SAVANT_INFO=-/9.7kb/11/2.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1114+36dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDOST+c.1114+36dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20979307">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2281,204,0:127	1|1:0,110:110:99:3675,331,0:127	1|0:40,54:94:99:1538,0,1064:127
1	20980880	.	G	A	1722.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_Ir|_614507_(3);dbSNP139.ID=rs607254;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=607254" target="_blank">rs607254</a>;ExAC.Info.AC=29399;ExAC.Info.AN=109356;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=7311;ExAC.Info.AC_Hom=1990;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000081274;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.697-16C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375048;SAVANT_GENE=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;SAVANT_INFO=-/9.7kb/11/2.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.697-16C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDOST+c.697-16C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20980880">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081274" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,321,3510:127	0|1:62,34:96:99:880,0,1756:127	0|0:99,0:99:99:0,297,3303:127
1	20980922	.	G	A	1242.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_Ir|_614507_(3);dbSNP139.ID=rs2070658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070658" target="_blank">rs2070658</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.697-58C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375048;SAVANT_GENE=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;SAVANT_INFO=-/9.7kb/11/2.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.697-58C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDOST+c.697-58C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20980922">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2545:127	0|0:65,0:65:99:0,195,2307:127	0|1:39,23:62:99:640,0,1126:127
1	20982631	.	G	A	1050.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_Ir|_614507_(3);dbSNP139.ID=rs4704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4704" target="_blank">rs4704</a>;ExAC.Info.AC=73985;ExAC.Info.AN=126704;ExAC.Info.AF=0.584;ExAC.Info.AC_Het=30176;ExAC.Info.AC_Hom=21896;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly122Gly/c.366C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375048;SAVANT_GENE=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;SAVANT_INFO=-/9.7kb/11/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.366C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDOST+c.366C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20982631">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2682:127	0|1:54,22:76:99:544,0,1622:127	0|0:71,0:71:99:0,213,2321:127
1	20987873	.	G	C	44274.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=507;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_Ir|_614507_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs537816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=537816" target="_blank">rs537816</a>;ExAC.Info.AC=125009;ExAC.Info.AN=125992;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=789;ExAC.Info.AC_Hom=57703;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.22G>C;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0147.1:Cmyc];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Ggt;snpeff.Amino_Acid_Change=p.Arg8Gly/c.22C>G;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375048;SAVANT_GENE=DDOST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDOST" target="_blank">DDOST</a>;SAVANT_INFO=-/9.7kb/11/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.22C>G_p.Arg8Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDOST+c.22C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20987873">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,153:153:99:5364,460,0:127	1|1:0,200:200:99:7148,601,0:127	1|1:0,154:154:99:5675,463,0:127
1	20991273	.	G	A	3585.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=64;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs56070322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56070322" target="_blank">rs56070322</a>;ExAC.Info.AC=21330;ExAC.Info.AN=126698;ExAC.Info.AF=0.168;ExAC.Info.AC_Het=17459;ExAC.Info.AC_Hom=1862;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2912-18C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2912-18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.2912-18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20991273">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,16:16:48:578,48,0:48	1|0:13,13:26:99:387,0,409:48	1|0:5,17:22:99:498,0,142:48
1	20992606	.	G	T	3944.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs630484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=630484" target="_blank">rs630484</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2911+101C>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2911+101C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.2911+101C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20992606">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,256,3199:127	0|1:52,73:125:99:1991,0,1609:127	0|0:94,0:94:99:0,282,3362:127
1	20992819	.	G	C	38149.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=560;MQ=69.98;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs631357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=631357" target="_blank">rs631357</a>;ExAC.Info.AC=95313;ExAC.Info.AN=126704;ExAC.Info.AF=0.752;ExAC.Info.AC_Het=22653;ExAC.Info.AC_Hom=36327;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaG;snpeff.Amino_Acid_Change=p.Asp933Glu/c.2799C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2799C>G_p.Asp933Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.2799C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20992819">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,164:164:99:5647,493,0:127	1|1:0,223:223:99:7799,670,0:127	1|0:86,87:173:99:2349,0,2381:127
1	20997072	.	A	G	1406.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41265075;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41265075" target="_blank">rs41265075</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2723-88T>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2723-88T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.2723-88T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:20997072">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,2040:127	0|0:84,0:84:99:0,252,3094:127	0|1:33,23:56:99:722,0,1094:127
1	21011224	.	A	C	13.07	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=66;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2231+78T>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2232A>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2232A>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2232A>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2231+78T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.2231+78T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21011224">View</a>	GT:AD:DP:GQ:PL:TP	0|0:17,4:21:22:0,22,546:20	0|1:24,8:32:25:25,0,696:20	0|0:13,0:13:39:0,39,499:20
1	21012563	.	C	T	5724.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs72650870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72650870" target="_blank">rs72650870</a>;ExAC.Info.AC=1880;ExAC.Info.AN=119562;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=744;ExAC.Info.AC_Hom=18;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala665Ala/c.1995G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1995G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.1995G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21012563">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,19:48:99:578,0,776:127	0/1:23,35:58:99:1000,0,595:127	0/1:28,22:50:99:594,0,750:127
1	21016842	.	A	G	120.77	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=1474;ExAC.Info.AN=124880;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1041;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1234-14T>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1234A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1234A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1234A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1234A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1234-14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.1234-14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21016842">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,14:40:99:124,0,715:49	1|0:35,8:43:18:18,0,954:49	0|0:32,3:35:50:0,50,996:49
1	21024860	.	C	A	2520.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41302005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41302005" target="_blank">rs41302005</a>;ExAC.Info.AC=3653;ExAC.Info.AN=126666;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=3483;ExAC.Info.AC_Hom=70;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1233+12G>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1234C>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1234C>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1234C>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1234C>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1233+12G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.1233+12G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21024860">View</a>	GT:AD:DP:GQ:PL:TP	0|0:130,0:130:99:0,390,4418:127	0|0:121,0:121:99:0,364,4172:127	0|1:49,48:97:99:1279,0,1497:127
1	21024901	.	C	T	13503.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs522496;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=522496" target="_blank">rs522496</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=78700;ExAC.Info.AN=126674;ExAC.Info.AF=0.621;ExAC.Info.AC_Het=29342;ExAC.Info.AC_Hom=24441;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1204C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1204C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1204C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1204C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val402Met/c.1204G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1204G>A_p.Val402Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.1204G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21024901">View</a>	GT:AD:DP:GQ:PL:TP	0/1:89,76:165:99:2048,0,2449:127	0/1:78,82:160:99:2212,0,2224:127	0/1:53,58:111:99:1610,0,1523:127
1	21036265	.	C	T	9966.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1012;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs33996125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33996125" target="_blank">rs33996125</a>;ExAC.Info.AC=1613;ExAC.Info.AN=126700;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1577;ExAC.Info.AC_Hom=16;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val179Val/c.537G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.537G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.537G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21036265">View</a>	GT:AD:DP:GQ:PL:TP	0|0:317,0:317:99:0,951,11077:127	0|1:194,186:380:99:5002,0,6169:127	0|0:315,0:315:99:0,946,11507:127
1	21040079	.	C	A	3158.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10799661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10799661" target="_blank">rs10799661</a>;ExAC.Info.AC=89188;ExAC.Info.AN=126106;ExAC.Info.AF=0.707;ExAC.Info.AC_Het=20222;ExAC.Info.AC_Hom=26357;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.379-31G>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379C>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379C>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379C>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379C>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379C>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.379-31G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.379-31G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21040079">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,427,4895:127	0|1:76,61:137:99:1598,0,2176:127	0|0:102,0:102:99:0,306,3541:127
1	21043926	.	T	C	2856.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs604645;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=604645" target="_blank">rs604645</a>;ExAC.Info.AC=86306;ExAC.Info.AN=121354;ExAC.Info.AF=0.711;ExAC.Info.AC_Het=21739;ExAC.Info.AC_Hom=28963;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.231+43A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.232T>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.232T>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.232T>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.232T>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.232T>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.231+43A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.231+43A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21043926">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2787:127	0|1:43,45:88:99:1447,0,1299:127	0|0:66,0:66:99:0,198,2334:127
1	21044161	.	A	G	1688.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs601329;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=601329" target="_blank">rs601329</a>;ExAC.Info.AC=85756;ExAC.Info.AN=122866;ExAC.Info.AF=0.698;ExAC.Info.AC_Het=22452;ExAC.Info.AC_Hom=27588;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg13Arg/c.39T>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000247986;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000247986;SAVANT_GENE=KIF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF17" target="_blank">KIF17</a>;SAVANT_INFO=-/54.0kb/15/4.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.39T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF17+c.39T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21044161">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,208,2110:127	0|1:55,34:89:99:863,0,1536:127	0|0:53,0:53:99:0,158,1768:127
1	21050958	.	C	T	9330.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs592060;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=592060" target="_blank">rs592060</a>;ExAC.Info.AC=99894;ExAC.Info.AN=124530;ExAC.Info.AF=0.802;ExAC.Info.AC_Het=18258;ExAC.Info.AC_Hom=39775;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln187Gln/c.561G>A;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=SH2D5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D5" target="_blank">SH2D5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444387;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444387;SAVANT_GENE=SH2D5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D5" target="_blank">SH2D5</a>;SAVANT_INFO=-/11.0kb/10/1.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.561G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH2D5+c.561G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21050958">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,35:52:99:1063,0,482:127	0|1:30,34:64:99:1083,0,1060:127	1|1:0,58:58:99:2159,174,0:127
1	21071419	.	G	A	2034.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17448349;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17448349" target="_blank">rs17448349</a>;ExAC.Info.AC=3831;ExAC.Info.AN=126704;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3639;ExAC.Info.AC_Hom=96;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1533G>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1533G>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro511Pro/c.1533C>T;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312239;SAVANT_GENE=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;SAVANT_INFO=-/44.0kb/13/3.9kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1533C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HP1BP3+c.1533C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21071419">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,183,2073:127	0|1:45,36:81:99:1036,0,1483:127	0|0:88,0:88:99:0,264,3141:127
1	21076274	.	G	A	3286.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12729575;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12729575" target="_blank">rs12729575</a>;ExAC.Info.AC=3838;ExAC.Info.AN=126704;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3643;ExAC.Info.AC_Hom=97;snpeff.Effect=sequence_feature[domain:H15_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083G>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:H15_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083G>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr361Thr/c.1083C>T;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312239;SAVANT_GENE=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;SAVANT_INFO=-/44.0kb/13/3.9kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1083C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HP1BP3+c.1083C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21076274">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2814:127	0|1:60,60:120:99:1662,0,1682:127	0|0:107,0:107:99:0,321,3669:127
1	21091861	.	G	T	15835.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1985278;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1985278" target="_blank">rs1985278</a>;ExAC.Info.AC=43147;ExAC.Info.AN=126696;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=27348;ExAC.Info.AC_Hom=7898;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.890+9C>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:H15_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.891G>T;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:H15_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.891G>T;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:H15_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.891G>T;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312239;SAVANT_GENE=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;SAVANT_INFO=-/44.0kb/13/3.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.890+9C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HP1BP3+c.890+9C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21091861">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2668,240,0:127	1|0:58,45:103:99:1283,0,1838:127	1|1:0,81:81:99:2836,243,0:127
1	21097584	.	A	T	3982.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=457;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17408249;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17408249" target="_blank">rs17408249</a>;ExAC.Info.AC=3830;ExAC.Info.AN=126684;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3636;ExAC.Info.AC_Hom=95;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.511-18T>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511A>T;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511A>T;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:H15_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511A>T;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:H15_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511A>T;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:H15_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511A>T;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312239;SAVANT_GENE=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;SAVANT_INFO=-/44.0kb/13/3.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.511-18T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HP1BP3+c.511-18T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21097584">View</a>	GT:AD:DP:GQ:PL:TP	0|0:134,0:134:99:0,402,4302:127	0|1:86,81:167:99:2010,0,2270:127	0|0:156,0:156:99:0,469,5299:127
1	21102502	.	CA	C	133.16	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=19;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.350+587delT;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000312239;SAVANT_GENE=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;SAVANT_INFO=-/44.0kb/13/3.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.350+587delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HP1BP3+c.350+587delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21102502">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,1:6:5:5,0,70:6	0/1:5,2:7:24:24,0,70:6	0/1:2,4:6:25:47,0,25:6
1	21106416	.	G	C	3268.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs33936601;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33936601" target="_blank">rs33936601</a>;ExAC.Info.AC=3815;ExAC.Info.AN=126686;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3560;ExAC.Info.AC_Hom=92;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.97-12C>G;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312239;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312239;SAVANT_GENE=HP1BP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HP1BP3" target="_blank">HP1BP3</a>;SAVANT_INFO=-/44.0kb/13/3.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.97-12C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HP1BP3+c.97-12C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21106416">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,315,3705:127	0|1:65,56:121:99:1653,0,2078:127	0|0:103,0:103:99:0,310,3836:127
1	21151580	.	G	T	3444.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=426;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72652913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72652913" target="_blank">rs72652913</a>;ExAC.Info.AC=966;ExAC.Info.AN=126700;ExAC.Info.AF=7.624e-03;ExAC.Info.AC_Het=941;ExAC.Info.AC_Hom=11;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4218+13C>A;snpeff.Amino_Acid_length=1591;snpeff.Gene_Name=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602326;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374937;SAVANT_GENE=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;SAVANT_INFO=-/243.8kb/32/5.0kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.4218+13C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G3+c.4218+13C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21151580">View</a>	GT:AD:DP:GQ:PL:TP	0|0:131,0:131:99:0,393,4791:127	0|1:95,66:161:99:1741,0,2930:127	0|0:134,0:134:99:0,403,4786:127
1	21167404	.	A	G	16288.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2230573;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230573" target="_blank">rs2230573</a>;ExAC.Info.AC=124604;ExAC.Info.AN=126704;ExAC.Info.AF=0.983;ExAC.Info.AC_Het=1752;ExAC.Info.AC_Hom=61421;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Tta/Cta;snpeff.Amino_Acid_Change=p.Leu1286Leu/c.3856T>C;snpeff.Amino_Acid_length=1591;snpeff.Gene_Name=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602326;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374937;SAVANT_GENE=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;SAVANT_INFO=-/243.8kb/32/5.0kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.3856T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G3+c.3856T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21167404">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2480,204,0:127	1|1:0,66:66:99:2392,198,0:127	1|1:0,52:52:99:2063,156,0:127
1	21179969	.	G	A	6957.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7542882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7542882" target="_blank">rs7542882</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3401+84C>T;snpeff.Amino_Acid_length=1591;snpeff.Gene_Name=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602326;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374937;SAVANT_GENE=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;SAVANT_INFO=-/243.8kb/32/5.0kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3401+84C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G3+c.3401+84C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21179969">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,36:37:99:1140,101,0:83	1|1:0,28:28:84:960,84,0:83	1|1:0,31:31:93:1084,93,0:83
1	21180181	.	C	T	6846.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2305463;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2305463" target="_blank">rs2305463</a>;ExAC.Info.AC=72473;ExAC.Info.AN=126692;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=29651;ExAC.Info.AC_Hom=21103;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3284-11G>A;snpeff.Amino_Acid_length=1591;snpeff.Gene_Name=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602326;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374937;SAVANT_GENE=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;SAVANT_INFO=-/243.8kb/32/5.0kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.3284-11G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G3+c.3284-11G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21180181">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1150,99,0:98	1|0:17,14:31:99:477,0,459:98	1|1:0,44:44:99:1583,132,0:98
1	21188703	.	A	T	29102.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=639;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10916885;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10916885" target="_blank">rs10916885</a>;ExAC.Info.AC=68747;ExAC.Info.AN=126644;ExAC.Info.AF=0.543;ExAC.Info.AC_Het=32244;ExAC.Info.AC_Hom=15998;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2961+18T>A;snpeff.Amino_Acid_length=1591;snpeff.Gene_Name=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602326;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374937;SAVANT_GENE=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;SAVANT_INFO=-/243.8kb/32/5.0kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2961+18T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G3+c.2961+18T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21188703">View</a>	GT:AD:DP:GQ:PL:TP	1|1:5,165:170:99:4354,370,0:127	1|0:148,141:289:99:2924,0,4001:127	1|1:8,172:180:99:4362,323,0:127
1	21276433	.	C	T	1340.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17417114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17417114" target="_blank">rs17417114</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.673+63G>A;snpeff.Amino_Acid_length=1591;snpeff.Gene_Name=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602326;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374937;SAVANT_GENE=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;SAVANT_INFO=-/243.8kb/32/5.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.673+63G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G3+c.673+63G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21276433">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,877:71	0|1:23,26:49:99:689,0,560:71	0|0:34,0:34:99:0,102,1182:71
1	21307743	.	AT	A	484.31	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=84;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;dbSNP139.ID=rs74258939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74258939" target="_blank">rs74258939</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.52-24delA;snpeff.Amino_Acid_length=1591;snpeff.Gene_Name=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602326;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000374937;SAVANT_GENE=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;SAVANT_INFO=-/243.8kb/32/5.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.52-24delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G3+c.52-24delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21307743">View</a>	GT:AD:DP:GQ:PL	0/1:15,4:22:13:21,0,337	./0:16,8:35:99:148,100,522	0/1:18,6:27:72:72,0,394
1	21307743	.	AT	ATT	484.31	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=84;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.52-24_52-25insA;snpeff.Amino_Acid_length=1591;snpeff.Gene_Name=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602326;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000374937;SAVANT_GENE=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;SAVANT_INFO=-/243.8kb/32/5.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.52-24dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G3+c.52-24dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21307743">View</a>	GT:AD:DP:GQ:PL	./0:15,3:22:13:21,13,357	0/1:16,11:35:99:148,0,426	./0:18,3:27:72:72,102,611
1	21327637	.	C	T	31815.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=399;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1395508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1395508" target="_blank">rs1395508</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.30+1569G>A;snpeff.Amino_Acid_length=1591;snpeff.Gene_Name=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000602326;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374937;SAVANT_GENE=EIF4G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G3" target="_blank">EIF4G3</a>;SAVANT_INFO=-/243.8kb/32/5.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.30+1569G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G3+c.30+1569G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21327637">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:4406,394,0:127	1|1:0,139:139:99:5031,418,0:127	1|1:0,129:129:99:4552,388,0:127
1	21554554	.	A	C	3476.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3)|Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3);dbSNP139.ID=rs190487320;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=190487320" target="_blank">rs190487320</a>;ExAC.Info.AC=306;ExAC.Info.AN=113754;ExAC.Info.AF=2.690e-03;ExAC.Info.AC_Het=108;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1671-20T>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671A>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374893;SAVANT_GENE=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;SAVANT_INFO=-/70.6kb/19/2.5kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1671-20T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECE1+c.1671-20T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21554554">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,202,3395:127	0|1:43,45:88:99:1757,0,2052:127	0|0:58,0:58:99:0,175,2697:127
1	21554555	.	G	C	3476.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3)|Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3);dbSNP139.ID=rs182680239;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=182680239" target="_blank">rs182680239</a>;ExAC.Info.AC=306;ExAC.Info.AN=113826;ExAC.Info.AF=2.688e-03;ExAC.Info.AC_Het=106;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1671-21C>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1671G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374893;SAVANT_GENE=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;SAVANT_INFO=-/70.6kb/19/2.5kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1671-21C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECE1+c.1671-21C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21554555">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,202,3395:127	0|1:43,45:88:99:1757,0,2052:127	0|0:57,0:57:99:0,175,2697:127
1	21560253	.	G	C	3234.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3)|Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3);dbSNP139.ID=rs28368029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28368029" target="_blank">rs28368029</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1567-99C>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374893;SAVANT_GENE=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;SAVANT_INFO=-/70.6kb/19/2.5kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1567-99C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECE1+c.1567-99C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21560253">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,264,3397:127	0|1:56,55:111:99:1636,0,1899:127	0|0:82,0:82:99:0,246,3232:127
1	21571601	.	G	A	6424.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3)|Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3);dbSNP139.ID=rs12562197;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12562197" target="_blank">rs12562197</a>;ExAC.Info.AC=29855;ExAC.Info.AN=126702;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=22055;ExAC.Info.AC_Hom=3790;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1164-5C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1164C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374893;SAVANT_GENE=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;SAVANT_INFO=-/70.6kb/19/2.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1164-5C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECE1+c.1164-5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21571601">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,426,4850:127	0|1:65,104:169:99:3231,0,1805:127	0|0:138,0:138:99:0,415,4827:127
1	21573722	.	G	A	2118.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3)|Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3);dbSNP139.ID=rs2229450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229450" target="_blank">rs2229450</a>;ExAC.Info.AC=28021;ExAC.Info.AN=126704;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=21129;ExAC.Info.AC_Hom=3445;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr385Thr/c.1155C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374893;SAVANT_GENE=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;SAVANT_INFO=-/70.6kb/19/2.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1155C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECE1+c.1155C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21573722">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1183:83	0|1:25,35:60:99:1078,0,656:83	0|0:28,0:28:84:0,84,963:83
1	21582348	.	T	C	4714.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=383;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3)|Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3);dbSNP139.ID=rs2076282;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076282" target="_blank">rs2076282</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1020+92A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374893;SAVANT_GENE=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;SAVANT_INFO=-/70.6kb/19/2.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1020+92A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECE1+c.1020+92A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21582348">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,367,4235:127	0|1:65,77:142:99:2376,0,1821:127	0|0:119,0:119:99:0,358,4129:127
1	21582425	.	C	T	4666.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=471;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3)|Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3);dbSNP139.ID=rs212522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=212522" target="_blank">rs212522</a>;ExAC.Info.AC=16388;ExAC.Info.AN=126702;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=13935;ExAC.Info.AC_Hom=1207;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1020+15G>A;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021C>T;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374893;SAVANT_GENE=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;SAVANT_INFO=-/70.6kb/19/2.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1020+15G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECE1+c.1020+15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21582425">View</a>	GT:AD:DP:GQ:PL:TP	0|0:139,1:140:99:0,413,4930:127	0|0:180,0:180:99:0,541,6407:127	0|1:76,75:151:99:2352,0,2184:127
1	21583973	.	A	G	2078.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3)|Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3);dbSNP139.ID=rs3026879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3026879" target="_blank">rs3026879</a>;ExAC.Info.AC=26624;ExAC.Info.AN=126656;ExAC.Info.AF=0.210;ExAC.Info.AC_Het=19799;ExAC.Info.AC_Hom=2906;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.828+45T>C;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374893;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374893;SAVANT_GENE=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;SAVANT_INFO=-/70.6kb/19/2.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.828+45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECE1+c.828+45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21583973">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1737:127	0|1:25,32:57:99:1058,0,683:127	0|0:47,0:47:99:0,141,1750:127
1	21671943	.	T	G	1298.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=41;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3)|Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3);dbSNP139.ID=rs2072654;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072654" target="_blank">rs2072654</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECE1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21671943">View</a>	GT:AD:DP:GQ:PL:TP	1|0:6,9:15:99:272,0,134:50	0|0:17,0:17:51:0,51,608:50	1|0:2,7:9:57:184,0,57:50
1	21671973	.	G	A	64.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=30;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3)|Hirschsprung_disease|_cardiac_defects|_and_autonomic_dysfunction|_613870_(3)|_{Hypertension|_essential|_susceptibility_to}|_145500_(3);dbSNP139.ID=rs114921587;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114921587" target="_blank">rs114921587</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ECE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECE1" target="_blank">ECE1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECE1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21671973">View</a>	GT:AD:DP:GQ:PL:TP	0|0:10,0:10:30:0,30,358:29	0|0:13,0:13:39:0,39,485:29	0|1:5,2:7:51:51,0,162:29
1	21751214	.	G	A	19711.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=720;MQ=47.42;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs72476501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72476501" target="_blank">rs72476501</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.565C>T;snpeff.Gene_Name=NBPF2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453025;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF2P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21751214">View</a>	GT:AD:DP:GQ:PL:TP	0/1:109,112:221:99:2704,0,2721:127	0/1:131,119:250:99:3017,0,3231:127	0/1:134,115:249:99:2885,0,3412:127
1	21752746	.	G	A	7783.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=319;MQ=36.61;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs140646278;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140646278" target="_blank">rs140646278</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.391C>T;snpeff.Gene_Name=NBPF2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453025;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF2P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21752746">View</a>	GT:AD:DP:GQ:PL:TP	0/1:65,40:105:99:861,0,1566:127	0/1:63,51:114:99:1302,0,1438:127	0/1:51,49:100:99:1238,0,1170:127
1	21752766	.	A	G	5119.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=357;MQ=35.33;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs144829292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144829292" target="_blank">rs144829292</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.371T>C;snpeff.Gene_Name=NBPF2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453025;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF2P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21752766">View</a>	GT:AD:DP:GQ:PL:TP	0/1:85,37:122:99:708,0,2199:127	0/1:78,47:125:99:923,0,2008:127	0/1:78,32:110:99:571,0,2110:127
1	21752782	.	T	G	4643.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=346;MQ=34.57;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs140348908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140348908" target="_blank">rs140348908</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.355A>C;snpeff.Gene_Name=NBPF2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453025;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF2P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21752782">View</a>	GT:AD:DP:GQ:PL:TP	0/1:85,31:116:99:558,0,2406:127	0/1:82,41:123:99:860,0,2279:127	0/1:80,27:107:99:488,0,2165:127
1	21752830	.	C	T	1175.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=254;MQ=37.83;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs139145324;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139145324" target="_blank">rs139145324</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.307G>A;snpeff.Gene_Name=NBPF2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453025;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF2P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21752830">View</a>	GT:AD:DP:GQ:PL:TP	0/1:69,14:83:99:235,0,2016:127	0/1:73,12:85:99:161,0,2045:127	0/1:74,12:86:99:159,0,2053:127
1	21753468	.	T	A	1517.02	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=25;MQ=44.28;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs200991536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200991536" target="_blank">rs200991536</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.233+50A>T;snpeff.Gene_Name=NBPF2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453025;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF2P" target="_blank">NBPF2P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF2P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21753468">View</a>	GT:AD:DP:GQ:PL:TP	0|1:3,3:6:91:91,0,104:7	1|1:1,13:14:7:417,7,0:7	0|1:3,2:5:53:53,0,106:7
1	21754981	.	C	G	1921.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=50;MQ=50.09;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs148590544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148590544" target="_blank">rs148590544</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.186C>G;snpeff.Gene_Name=HS6ST1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000481504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS6ST1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21754981">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,5:15:99:158,0,319:127	0/1:12,9:21:99:282,0,334:127	0/1:6,8:14:99:242,0,193:127
1	21754996	.	C	T	4580.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=43;MQ=46.63;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12024079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12024079" target="_blank">rs12024079</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.201C>T;snpeff.Gene_Name=HS6ST1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000481504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS6ST1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21754996">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,11:11:33:397,33,0:47	1|1:0,17:17:54:658,54,0:47	1|1:0,15:15:48:650,48,0:47
1	21755013	.	C	T	1024.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=34;MQ=43.87;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs201191572;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201191572" target="_blank">rs201191572</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.218C>T;snpeff.Gene_Name=HS6ST1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000481504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS6ST1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21755013">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,3:10:84:84,0,187:83	0/1:8,5:13:99:122,0,235:83	0/1:5,6:11:99:177,0,148:83
1	21755055	.	C	A	1975.97	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=21;MQ=40.73;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12024104;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12024104" target="_blank">rs12024104</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.260C>A;snpeff.Gene_Name=HS6ST1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000481504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS6ST1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21755055">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,5:5:15:185,15,0:20	1|1:0,8:8:24:294,24,0:20	1|1:0,8:8:24:285,24,0:20
1	21755135	.	T	G	159.7	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=9;MQ=55.91;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs41302024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41302024" target="_blank">rs41302024</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.340T>G;snpeff.Gene_Name=HS6ST1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000481504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS6ST1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21755135">View</a>	GT:AD:DP:GQ:PL:TP	0|0:1,0:1:3:0,3,34:4	0|1:3,2:5:54:54,0,104:4	0|1:2,1:3:31:31,0,70:4
1	21755188	.	C	G	511.1	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=15;MQ=69.50;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs41306571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41306571" target="_blank">rs41306571</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.393C>G;snpeff.Gene_Name=HS6ST1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000481504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS6ST1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21755188">View</a>	GT:AD:DP:GQ:PL:TP	1|0:2,4:6:62:126,0,62:10	0|0:5,0:5:15:0,15,198:10	1|1:0,4:4:12:147,12,0:10
1	21755539	.	C	A	854.46	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=10;MQ=44.85;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3855556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3855556" target="_blank">rs3855556</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.744C>A;snpeff.Gene_Name=HS6ST1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000481504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS6ST1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21755539">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,1:1:3:35,3,0:8	1|1:0,4:4:12:144,12,0:8	1|1:0,5:5:15:191,15,0:8
1	21755756	.	G	C	19147.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=202;MQ=61.49;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs56343055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56343055" target="_blank">rs56343055</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.961G>C;snpeff.Gene_Name=HS6ST1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000481504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS6ST1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21755756">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2079,183,0:127	1|1:0,71:71:99:2497,213,0:127	1|1:0,70:70:99:2406,210,0:127
1	21755867	.	A	G	11931.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=132;MQ=52.81;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7522332;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7522332" target="_blank">rs7522332</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1072A>G;snpeff.Gene_Name=HS6ST1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000481504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS6ST1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21755867">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1404,117,0:107	1|1:0,57:57:99:1994,171,0:107	1|1:0,36:36:99:1288,108,0:107
1	21755906	.	G	A	7259.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=97;MQ=54.44;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3738922;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738922" target="_blank">rs3738922</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1111G>A;snpeff.Gene_Name=HS6ST1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000481504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS6ST1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21755906">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1017,96,0:57	1|1:0,46:46:99:1556,138,0:57	1|1:0,19:19:57:643,57,0:57
1	21756008	.	G	T	3424.94	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=38;MQ=63.37;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3894725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3894725" target="_blank">rs3894725</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1213G>T;snpeff.Gene_Name=HS6ST1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000481504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS6ST1P1" target="_blank">HS6ST1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS6ST1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21756008">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,9:9:27:306,27,0:26	1|1:0,20:20:60:637,60,0:26	1|1:0,9:9:27:337,27,0:26
1	21795388	.	A	G	9907.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1827293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1827293" target="_blank">rs1827293</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=65594;ExAC.Info.AN=126688;ExAC.Info.AF=0.518;ExAC.Info.AC_Het=30204;ExAC.Info.AC_Hom=17657;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.341A>G;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAc/tGc;snpeff.Amino_Acid_Change=p.Tyr114Cys/c.341A>G;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318249;SAVANT_GENE=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;SAVANT_INFO=+/44.8kb/15/3.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.341A>G_p.Tyr114Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF3+c.341A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21795388">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,33:64:99:1045,0,800:127	0|1:39,38:77:99:1266,0,1083:127	1|1:0,55:55:99:2147,165,0:127
1	21799924	.	G	A	5859.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=256;MQ=69.97;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs80145424;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80145424" target="_blank">rs80145424</a>;ExAC.Info.AC=4833;ExAC.Info.AN=126704;ExAC.Info.AF=0.038;ExAC.Info.AC_Het=4469;ExAC.Info.AC_Hom=182;snpeff.Effect=sequence_feature[domain:NBPF_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.786G>A;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.786G>A;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.786G>A;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu262Glu/c.786G>A;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318249;SAVANT_GENE=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;SAVANT_INFO=+/44.8kb/15/3.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.786G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF3+c.786G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21799924">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,42:94:99:1098,0,1550:127	1|0:56,36:92:99:1018,0,1655:127	0|0:70,0:70:99:0,210,2578:127
1	21806619	.	T	C	564.92	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=89;MQ=69.15;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3820294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820294" target="_blank">rs3820294</a>;ExAC.Info.AC=435;ExAC.Info.AN=96336;ExAC.Info.AF=4.515e-03;ExAC.Info.AC_Het=10;ExAC.Info.AC_Hom=6;snpeff.Effect=sequence_feature[domain:NBPF_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1284T>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro428Pro/c.1284T>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318249;SAVANT_GENE=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;SAVANT_INFO=+/44.8kb/15/3.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1284T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF3+c.1284T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21806619">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,6:43:99:141,0,2017:8	0|1:38,3:41:9:9,0,2134:8	1|1:0,5:5:15:225,15,0:8
1	21806621	.	T	G	640.98	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=89;MQ=69.15;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3820293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820293" target="_blank">rs3820293</a>;ExAC.Info.AC=399;ExAC.Info.AN=96738;ExAC.Info.AF=4.125e-03;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=2;snpeff.Effect=sequence_feature[domain:NBPF_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1286T>G;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tGt;snpeff.Amino_Acid_Change=p.Phe429Cys/c.1286T>G;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318249;SAVANT_GENE=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;SAVANT_INFO=+/44.8kb/15/3.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1286T>G_p.Phe429Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF3+c.1286T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21806621">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,6:43:99:138,0,2057:4	0|1:38,3:41:3:3,0,2213:4	1|1:0,5:5:18:270,18,0:4
1	21806624	.	A	G	649.13	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=92;MQ=68.96;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3820292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820292" target="_blank">rs3820292</a>;ExAC.Info.AC=415;ExAC.Info.AN=96798;ExAC.Info.AF=4.287e-03;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=2;snpeff.Effect=sequence_feature[domain:NBPF_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1289A>G;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu430Gly/c.1289A>G;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318249;SAVANT_GENE=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;SAVANT_INFO=+/44.8kb/15/3.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1289A>G_p.Glu430Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF3+c.1289A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21806624">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,6:43:99:141,0,2015:6	0|1:40,3:43:6:6,0,2171:6	1|1:0,6:6:18:270,18,0:6
1	21806667	.	C	G	198.15	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=79;MQ=68.38;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12043777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12043777" target="_blank">rs12043777</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=27720;ExAC.Info.AN=118724;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=4133;ExAC.Info.AC_Hom=1539;snpeff.Effect=sequence_feature[domain:NBPF_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1332C>G;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaG;snpeff.Amino_Acid_Change=p.Asp444Glu/c.1332C>G;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318249;SAVANT_GENE=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;SAVANT_INFO=+/44.8kb/15/3.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1332C>G_p.Asp444Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF3+c.1332C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21806667">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,1:35:71:0,71,1137:61	0|0:41,0:41:99:0,123,1462:61	0|1:0,3:3:1:123,9,0:61
1	21807521	.	A	T	1190.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=94;MQ=31.68;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs200206527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200206527" target="_blank">rs200206527</a>;ExAC.Info.AC=27944;ExAC.Info.AN=126138;ExAC.Info.AF=0.222;ExAC.Info.AC_Het=23152;ExAC.Info.AC_Hom=1115;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1433+47A>T;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434A>T;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434A>T;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434A>T;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434A>T;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318249;SAVANT_GENE=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;SAVANT_INFO=+/44.8kb/15/3.8kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1433+47A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF3+c.1433+47A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21807521">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,4:28:55:55,0,750:54	0/1:17,10:27:99:226,0,490:54	0/1:32,7:39:99:106,0,873:54
1	21808159	.	G	A	9521.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=314;MQ=37.30;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs71512991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71512991" target="_blank">rs71512991</a>;ExAC.Info.AC=61177;ExAC.Info.AN=126110;ExAC.Info.AF=0.485;ExAC.Info.AC_Het=51782;ExAC.Info.AC_Hom=4352;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1503G>A;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1503G>A;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1503G>A;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1503G>A;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser501Ser/c.1503G>A;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318249;SAVANT_GENE=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;SAVANT_INFO=+/44.8kb/15/3.8kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1503G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF3+c.1503G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21808159">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,51:84:99:1280,0,685:127	0/1:54,76:130:99:1721,0,1144:127	0/1:45,55:100:99:1346,0,1031:127
1	21808207	.	A	C	5691.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=156;MQ=30.53;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs146564096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146564096" target="_blank">rs146564096</a>;ExAC.Info.AC=54218;ExAC.Info.AN=125766;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=41512;ExAC.Info.AC_Hom=1982;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly517Gly/c.1551A>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318249;SAVANT_GENE=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;SAVANT_INFO=+/44.8kb/15/3.8kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1551A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF3+c.1551A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21808207">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,26:44:99:788,0,486:127	0/1:27,32:59:99:935,0,741:127	0/1:25,28:53:99:814,0,702:127
1	21808223	.	T	C	4111.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=121;MQ=30.39;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs145079058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145079058" target="_blank">rs145079058</a>;ExAC.Info.AC=54648;ExAC.Info.AN=125250;ExAC.Info.AF=0.436;ExAC.Info.AC_Het=37514;ExAC.Info.AC_Hom=1346;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu523Leu/c.1567T>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318249;SAVANT_GENE=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;SAVANT_INFO=+/44.8kb/15/3.8kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1567T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF3+c.1567T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21808223">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,22:37:99:667,0,408:127	0/1:22,23:45:99:664,0,626:127	0/1:19,20:39:99:577,0,535:127
1	21809750	.	T	C	3779.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=53;MQ=28.13;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs202069483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202069483" target="_blank">rs202069483</a>;ExAC.Info.AC=85488;ExAC.Info.AN=125746;ExAC.Info.AF=0.680;ExAC.Info.AC_Het=11433;ExAC.Info.AC_Hom=33885;snpeff.Effect=sequence_feature[domain:NBPF_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1773T>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr591Tyr/c.1773T>C;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318249;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318249;SAVANT_GENE=NBPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF3" target="_blank">NBPF3</a>;SAVANT_INFO=+/44.8kb/15/3.8kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1773T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF3+c.1773T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21809750">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:489,45,0:50	1|1:0,17:17:51:550,51,0:50	1|1:0,21:21:63:684,63,0:50
1	21887290	.	C	A	13057.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hypophosphatasia|_infantile|_241500_(3)|_Hypophosphatasia|_childhood|_241510_(3)|_Odontohypophosphatasia|_146300_(3)|_Hypophosphatasia|_adult|_146300_(3);dbSNP139.ID=rs1767430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1767430" target="_blank">rs1767430</a>;ExAC.Info.AC=42288;ExAC.Info.AN=126632;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=26270;ExAC.Info.AC_Hom=7145;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.181+52C>A;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000425315;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374840;SAVANT_GENE=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;SAVANT_INFO=+/69.0kb/12/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.181+52C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALPL+c.181+52C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21887290">View</a>	GT:AD:DP:GQ:PL:TP	0/1:60,65:125:99:1718,0,1693:127	0/1:81,91:172:99:2624,0,2480:127	0/1:66,60:126:99:1688,0,1879:127
1	21889635	.	T	C	13931.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypophosphatasia|_infantile|_241500_(3)|_Hypophosphatasia|_childhood|_241510_(3)|_Odontohypophosphatasia|_146300_(3)|_Hypophosphatasia|_adult|_146300_(3);dbSNP139.ID=rs1780316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1780316" target="_blank">rs1780316</a>;ExAC.Info.AC=119612;ExAC.Info.AN=126628;ExAC.Info.AF=0.945;ExAC.Info.AC_Het=6436;ExAC.Info.AC_Hom=56131;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser110Ser/c.330T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000425315;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374840;SAVANT_GENE=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;SAVANT_INFO=+/69.0kb/12/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.330T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALPL+c.330T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21889635">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1190,99,0:127	1|1:0,64:64:99:2250,192,0:127	1|1:0,56:56:99:1887,168,0:127
1	21889784	.	CG	C	1901.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hypophosphatasia|_infantile|_241500_(3)|_Hypophosphatasia|_childhood|_241510_(3)|_Odontohypophosphatasia|_146300_(3)|_Hypophosphatasia|_adult|_146300_(3);dbSNP139.ID=rs35423948;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35423948" target="_blank">rs35423948</a>;ExAC.Info.AC=16201;ExAC.Info.AN=126500;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=13252;ExAC.Info.AC_Hom=1240;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.472+8delG;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000425315;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473delG;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000425315;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000374840;SAVANT_GENE=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;SAVANT_INFO=+/69.0kb/12/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.472+12delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALPL+c.472+12delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21889784">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2378:127	0|0:87,1:88:99:0,235,2794:127	0|1:36,37:73:99:974,0,945:127
1	21890464	.	A	G	12112.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypophosphatasia|_infantile|_241500_(3)|_Hypophosphatasia|_childhood|_241510_(3)|_Odontohypophosphatasia|_146300_(3)|_Hypophosphatasia|_adult|_146300_(3);dbSNP139.ID=rs1767428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1767428" target="_blank">rs1767428</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.473-70A>G;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000425315;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374840;SAVANT_GENE=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;SAVANT_INFO=+/69.0kb/12/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.473-70A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALPL+c.473-70A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21890464">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1528,117,0:86	1|1:0,53:53:99:2113,159,0:86	1|1:0,29:29:87:1217,87,0:86
1	21896767	.	C	T	4826.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hypophosphatasia|_infantile|_241500_(3)|_Hypophosphatasia|_childhood|_241510_(3)|_Odontohypophosphatasia|_146300_(3)|_Hypophosphatasia|_adult|_146300_(3);dbSNP139.ID=rs1256328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1256328" target="_blank">rs1256328</a>;ExAC.Info.AC=20285;ExAC.Info.AN=126692;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=16738;ExAC.Info.AC_Hom=1714;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.793-31C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000425315;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374840;SAVANT_GENE=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;SAVANT_INFO=+/69.0kb/12/2.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.793-31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALPL+c.793-31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21896767">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,28:58:99:822,0,793:127	1|0:39,35:74:99:977,0,1180:127	0|0:67,0:67:99:0,201,2411:127
1	21902436	.	G	T	5460.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypophosphatasia|_infantile|_241500_(3)|_Hypophosphatasia|_childhood|_241510_(3)|_Odontohypophosphatasia|_146300_(3)|_Hypophosphatasia|_adult|_146300_(3);dbSNP139.ID=rs61778393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61778393" target="_blank">rs61778393</a>;ExAC.Info.AC=2871;ExAC.Info.AN=126702;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2771;ExAC.Info.AC_Hom=50;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1189+19G>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000425315;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374840;SAVANT_GENE=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;SAVANT_INFO=+/69.0kb/12/2.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1189+19G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALPL+c.1189+19G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21902436">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,32:54:99:982,0,712:127	0|0:87,1:88:99:0,225,3016:127	1|0:37,39:76:99:1158,0,1116:127
1	21904131	.	T	C	11630.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=537;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hypophosphatasia|_infantile|_241500_(3)|_Hypophosphatasia|_childhood|_241510_(3)|_Odontohypophosphatasia|_146300_(3)|_Hypophosphatasia|_adult|_146300_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34605986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34605986" target="_blank">rs34605986</a>;ExAC.Info.AC=11542;ExAC.Info.AN=125318;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=9500;ExAC.Info.AC_Hom=601;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gCc;snpeff.Amino_Acid_Change=p.Val522Ala/c.1565T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000425315;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374840;SAVANT_GENE=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;SAVANT_INFO=+/69.0kb/12/2.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1565T>C_p.Val522Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALPL+c.1565T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21904131">View</a>	GT:AD:DP:GQ:PL:TP	0|1:94,74:168:99:2212,0,2585:127	1|0:104,82:186:99:2437,0,2951:127	0|0:183,0:183:99:0,550,6147:127
1	21904206	.	C	T	14534.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hypophosphatasia|_infantile|_241500_(3)|_Hypophosphatasia|_childhood|_241510_(3)|_Odontohypophosphatasia|_146300_(3)|_Hypophosphatasia|_adult|_146300_(3);dbSNP139.ID=rs1697405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1697405" target="_blank">rs1697405</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=65;snpeff.Amino_Acid_Change=c.*65C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000425315;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374840;SAVANT_GENE=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;SAVANT_INFO=+/69.0kb/12/2.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*65C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALPL+c.*65C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21904206">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,52:78:99:1582,0,762:127	0|1:50,61:111:99:1905,0,1516:127	1|1:0,89:89:99:3262,268,0:127
1	21904267	.	A	G	24463.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypophosphatasia|_infantile|_241500_(3)|_Hypophosphatasia|_childhood|_241510_(3)|_Odontohypophosphatasia|_146300_(3)|_Hypophosphatasia|_adult|_146300_(3);dbSNP139.ID=rs1697406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1697406" target="_blank">rs1697406</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=126;snpeff.Amino_Acid_Change=c.*126A>G;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000425315;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374840;SAVANT_GENE=ALPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL" target="_blank">ALPL</a>;SAVANT_INFO=+/69.0kb/12/2.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*126A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALPL+c.*126A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21904267">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:3470,277,0:127	1|1:0,102:102:99:3874,307,0:127	1|1:0,81:81:99:3143,244,0:127
1	21929260	.	A	G	12869.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs829368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=829368" target="_blank">rs829368</a>;ExAC.Info.AC=114459;ExAC.Info.AN=126030;ExAC.Info.AF=0.908;ExAC.Info.AC_Het=9471;ExAC.Info.AC_Hom=48956;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1793+37T>C;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374763;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1730+37T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.1730+37T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21929260">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1055,90,0:110	1|1:0,66:66:99:2192,198,0:110	1|1:0,37:37:99:1235,111,0:110
1	21934667	.	G	A	6223.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs829371;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=829371" target="_blank">rs829371</a>;ExAC.Info.AC=59974;ExAC.Info.AN=126656;ExAC.Info.AF=0.474;ExAC.Info.AC_Het=30568;ExAC.Info.AC_Hom=14445;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1296+39C>T;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374763;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1488+39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.1488+39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21934667">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,24:50:99:680,0,712:104	0|1:17,23:40:99:741,0,506:104	1|1:0,35:35:99:1298,105,0:104
1	21934693	.	T	C	3980.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72660316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72660316" target="_blank">rs72660316</a>;ExAC.Info.AC=15888;ExAC.Info.AN=126700;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=13614;ExAC.Info.AC_Hom=1126;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1296+13A>G;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374763;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1488+13A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.1488+13A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21934693">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,30:65:99:888,0,939:127	1|0:37,21:58:99:663,0,1171:127	0|0:52,0:52:99:0,156,1950:127
1	21935433	.	G	T	4409.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs861212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=861212" target="_blank">rs861212</a>;ExAC.Info.AC=62005;ExAC.Info.AN=126704;ExAC.Info.AF=0.489;ExAC.Info.AC_Het=30448;ExAC.Info.AC_Hom=15778;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1072-4C>A;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374763;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072C>A;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374763;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1264-4C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.1264-4C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21935433">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,20:42:99:495,0,647:127	0/1:17,29:46:99:791,0,480:127	0/1:28,18:46:99:388,0,800:127
1	21935467	.	G	A	2346.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12130950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12130950" target="_blank">rs12130950</a>;ExAC.Info.AC=16123;ExAC.Info.AN=126704;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=13825;ExAC.Info.AC_Hom=1146;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1072-38C>T;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374763;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1264-38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.1264-38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21935467">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,21:34:99:600,0,337:116	1|0:18,13:31:99:352,0,621:116	0|0:39,0:39:99:0,117,1279:116
1	21940555	.	C	T	8057.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275363" target="_blank">rs2275363</a>;ExAC.Info.AC=51946;ExAC.Info.AN=126628;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=29163;ExAC.Info.AC_Hom=10154;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala107Thr/c.319G>A;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374763;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.511G>A_p.Ala171Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.511G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21940555">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,22:56:99:623,0,916:127	0|1:26,29:55:99:889,0,659:127	1|1:0,58:58:99:2022,174,0:127
1	21943820	.	G	A	4725.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2275360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275360" target="_blank">rs2275360</a>;ExAC.Info.AC=33769;ExAC.Info.AN=124880;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=14548;ExAC.Info.AC_Hom=3580;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr90Tyr/c.270C>T;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374763;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.462C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.462C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21943820">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,34:53:99:912,0,462:127	1|0:28,44:72:99:1201,0,806:127	0|0:53,0:53:99:0,159,1942:127
1	21944352	.	A	G	7214.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs748488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=748488" target="_blank">rs748488</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.105+75T>C;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374763;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.297+75T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.297+75T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21944352">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,27:53:99:872,0,769:127	0/1:42,39:81:99:1271,0,1250:127	0/1:30,29:59:99:941,0,915:127
1	21945530	.	C	T	3564.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs77539762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77539762" target="_blank">rs77539762</a>;ExAC.Info.AC=3928;ExAC.Info.AN=126042;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3108;ExAC.Info.AC_Hom=98;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro18Pro/c.54G>A;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374763;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.246G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.246G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21945530">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,12:31:99:315,0,545:127	1|0:18,25:43:99:739,0,481:127	0|0:58,0:58:99:0,174,2008:127
1	21952884	.	G	A	852.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1130564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1130564" target="_blank">rs1130564</a>;ExAC.Info.AC=5307;ExAC.Info.AN=124762;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=5005;ExAC.Info.AC_Hom=140;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.87C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.87C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21952884">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1468:127	0|0:53,0:53:99:0,159,2012:127	0|1:22,16:38:99:445,0,645:127
1	21953304	.	G	A	4426.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=489;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1531829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1531829" target="_blank">rs1531829</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.81-414C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.81-414C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21953304">View</a>	GT:AD:DP:GQ:PL:TP	0|0:155,0:155:99:0,465,5216:127	0|0:173,0:173:99:0,520,5748:127	0|1:77,84:161:99:2232,0,2027:127
1	21953436	.	A	G	25059.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=537;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs829412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=829412" target="_blank">rs829412</a>;ExAC.Info.AC=15920;ExAC.Info.AN=19490;ExAC.Info.AF=0.817;ExAC.Info.AC_Het=1509;ExAC.Info.AC_Hom=5262;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.81-546T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.81-546T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21953436">View</a>	GT:AD:DP:GQ:PL:TP	1|0:77,84:161:99:2440,0,2357:127	0|1:107,101:208:99:2898,0,3152:127	1|1:0,168:168:99:5980,505,0:127
1	21961339	.	A	T	20912.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10799706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10799706" target="_blank">rs10799706</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290101;SAVANT_GENE=RAP1GAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1GAP" target="_blank">RAP1GAP</a>;SAVANT_INFO=-/55.6kb/25/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.81-8449T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1GAP+c.81-8449T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:21961339">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2942,264,0:127	1|1:0,92:92:99:3020,276,0:127	1|1:0,74:74:99:2472,222,0:127
1	22013771	.	G	A	15230.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10493008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10493008" target="_blank">rs10493008</a>;ExAC.Info.AC=59474;ExAC.Info.AN=126476;ExAC.Info.AF=0.470;ExAC.Info.AC_Het=25411;ExAC.Info.AC_Hom=12981;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3046-39C>T;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529637;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308271;SAVANT_GENE=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;SAVANT_INFO=-/105.0kb/27/4.6kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.3010-39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP48+c.3010-39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22013771">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2259,201,0:127	1|0:53,65:118:99:1760,0,1472:127	1|1:0,71:71:99:2472,213,0:127
1	22030120	.	GA	G	115.5	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs370210128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=370210128" target="_blank">rs370210128</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2552-10delT;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529637;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000308271;SAVANT_GENE=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;SAVANT_INFO=-/105.0kb/27/4.6kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2516-10delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP48+c.2516-10delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22030120">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,1:72:99:0,162,1957:53	0|0:76,8:84:54:0,54,1978:53	0|1:61,12:73:63:63,0,1498:53
1	22030121	.	A	G	8416.0	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs55633304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55633304" target="_blank">rs55633304</a>;ExAC.Info.AC=12127;ExAC.Info.AN=31438;ExAC.Info.AF=0.386;ExAC.Info.AC_Het=11574;ExAC.Info.AC_Hom=168;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2552-10T>C;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529637;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308271;SAVANT_GENE=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;SAVANT_INFO=-/105.0kb/27/4.6kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2516-10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP48+c.2516-10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22030121">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,71:72:99:1830,161,0:69	1|0:12,72:84:69:1675,0,69:69	1|0:50,27:77:99:506,0,1369:69
1	22033152	.	G	A	3588.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41265993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41265993" target="_blank">rs41265993</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2125-70C>T;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529637;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308271;SAVANT_GENE=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;SAVANT_INFO=-/105.0kb/27/4.6kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2089-70C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP48+c.2089-70C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22033152">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,292,3488:127	0|1:62,59:121:99:1813,0,1874:127	0|0:86,0:86:99:0,259,3221:127
1	22050649	.	C	A	21904.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275668;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275668" target="_blank">rs2275668</a>;ExAC.Info.AC=89363;ExAC.Info.AN=121896;ExAC.Info.AF=0.733;ExAC.Info.AC_Het=12446;ExAC.Info.AC_Hom=19554;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1448-61G>T;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529637;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308271;SAVANT_GENE=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;SAVANT_INFO=-/105.0kb/27/4.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1451-61G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP48+c.1451-61G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22050649">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2966,253,0:127	1|1:0,102:102:99:3587,307,0:127	1|1:0,95:95:99:3449,286,0:127
1	22063149	.	G	A	7670.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10753517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10753517" target="_blank">rs10753517</a>;ExAC.Info.AC=78036;ExAC.Info.AN=122134;ExAC.Info.AF=0.639;ExAC.Info.AC_Het=24065;ExAC.Info.AC_Hom=23517;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.992-31C>T;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529637;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308271;SAVANT_GENE=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;SAVANT_INFO=-/105.0kb/27/4.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.992-31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP48+c.992-31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22063149">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1624,132,0:110	1|0:35,18:53:99:516,0,1137:110	1|1:0,37:37:99:1275,111,0:110
1	22079457	.	TA	T	47.54	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.540+27delT;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529637;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000308271;SAVANT_GENE=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;SAVANT_INFO=-/105.0kb/27/4.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.540+27delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP48+c.540+27delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22079457">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,4:50:50:0,50,1022:24	0|0:48,3:51:75:0,75,1077:24	0|1:55,9:64:25:25,0,1127:24
1	22109370	.	G	A	6838.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10917042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10917042" target="_blank">rs10917042</a>;ExAC.Info.AC=27617;ExAC.Info.AN=116938;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=6305;ExAC.Info.AC_Hom=1753;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His27His/c.81C>T;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529637;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308271;SAVANT_GENE=USP48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP48" target="_blank">USP48</a>;SAVANT_INFO=-/105.0kb/27/4.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.81C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP48+c.81C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22109370">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1252,120,0:120	1|0:19,17:36:99:423,0,588:120	1|0:17,20:37:99:564,0,539:120
1	22141206	.	A	C	12211.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10917051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10917051" target="_blank">rs10917051</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=63566;ExAC.Info.AN=104790;ExAC.Info.AF=0.607;ExAC.Info.AC_Het=7591;ExAC.Info.AC_Hom=7609;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aCc;snpeff.Amino_Acid_Change=p.Asn134Thr/c.401A>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=LDLRAD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD2" target="_blank">LDLRAD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344642;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344642;SAVANT_GENE=LDLRAD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD2" target="_blank">LDLRAD2</a>;SAVANT_INFO=+/13.0kb/5/4.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.401A>C_p.Asn134Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDLRAD2+c.401A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22141206">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2077,195,0:127	1|0:49,52:101:99:1462,0,1348:127	1|0:29,31:60:99:905,0,802:127
1	22149935	.	T	C	6944.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs897467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=897467" target="_blank">rs897467</a>;ExAC.Info.AC=99046;ExAC.Info.AN=124358;ExAC.Info.AF=0.796;ExAC.Info.AC_Het=14552;ExAC.Info.AC_Hom=30309;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1227;snpeff.Amino_Acid_Change=c.*1227T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=LDLRAD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD2" target="_blank">LDLRAD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344642;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13050T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD2" target="_blank">LDLRAD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=92;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13050T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD2" target="_blank">LDLRAD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=94;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13050T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD2" target="_blank">LDLRAD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=93;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13050T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD2" target="_blank">LDLRAD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=95;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13050T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD2" target="_blank">LDLRAD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=96;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13050T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD2" target="_blank">LDLRAD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=97;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser4350Ser/c.13050A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD2" target="_blank">LDLRAD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=97;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695:ENST00000344642;SAVANT_GENE=HSPG2:LDLRAD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2:LDLRAD2" target="_blank">HSPG2:LDLRAD2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb:+/13.0kb/5/4.0kb;SAVANT_LOC=Ex97:3UTR;SAVANT_HGVS=c.13050A>G_p.=:c.*1227T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2:LDLRAD2+c.13050A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22149935">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,0:103:99:0,309,3404:127	0|1:65,75:140:99:2121,0,1756:127	0|1:62,49:111:99:1371,0,1761:127
1	22150257	.	C	T	5863.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs3736357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736357" target="_blank">rs3736357</a>;ExAC.Info.AC=57130;ExAC.Info.AN=126268;ExAC.Info.AF=0.452;ExAC.Info.AC_Het=28351;ExAC.Info.AC_Hom=13235;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12900-45G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=95;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1549;snpeff.Amino_Acid_Change=c.*1549C>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=LDLRAD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344642;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12900C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=95;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12900C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=96;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_motor_neuron_attachment];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12900C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=95;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_motor_neuron_attachment];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12900C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=96;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12900C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=92;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12900C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=94;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12900C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=93;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12900C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=95;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12900C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=96;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12900C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=97;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695:ENST00000344642;SAVANT_GENE=HSPG2:LDLRAD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2:LDLRAD2" target="_blank">HSPG2:LDLRAD2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb:+/13.0kb/5/4.0kb;SAVANT_LOC=In95/96:3UTR;SAVANT_HGVS=c.12900-45G>A:c.*1549C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2:LDLRAD2+c.12900-45G>A:c.*1549C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22150257">View</a>	GT:AD:DP:GQ:PL:TP	0|0:130,0:130:99:0,391,4691:127	0|1:70,57:127:99:1587,0,2089:127	0|1:78,49:127:99:1366,0,2324:127
1	22157689	.	G	A	12372.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=679;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs3736355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736355" target="_blank">rs3736355</a>;ExAC.Info.AC=100312;ExAC.Info.AN=126640;ExAC.Info.AF=0.792;ExAC.Info.AC_Het=20467;ExAC.Info.AC_Hom=39531;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11562+19C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=84;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11563G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=84;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11563G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=85;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11563G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=84;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11563G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=85;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In84/85;SAVANT_HGVS=c.11562+19C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.11562+19C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22157689">View</a>	GT:AD:DP:GQ:PL:TP	0|0:220,0:220:99:0,661,8031:127	0|1:130,124:254:99:3446,0,4094:127	0|1:104,101:205:99:2760,0,3184:127
1	22160148	.	C	T	3548.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs7547731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7547731" target="_blank">rs7547731</a>;ExAC.Info.AC=57427;ExAC.Info.AN=126616;ExAC.Info.AF=0.454;ExAC.Info.AC_Het=29081;ExAC.Info.AC_Hom=13645;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10831-41G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=78;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_22];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10831C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=79;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_22];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10831C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=78;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_22];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10831C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In78/79;SAVANT_HGVS=c.10831-41G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.10831-41G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22160148">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1754:127	0|1:26,28:54:99:837,0,709:127	0|1:19,32:51:99:957,0,565:127
1	22163153	.	A	C	5430.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs12567651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12567651" target="_blank">rs12567651</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10355+142T>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=75;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10356A>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=76;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10356A>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=77;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10356A>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=75;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In75/76;SAVANT_HGVS=c.10355+142T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.10355+142T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22163153">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,300,3317:127	0|1:59,64:123:99:1847,0,1661:127	0|1:57,37:94:99:888,0,1489:127
1	22174600	.	A	G	2576.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs3767138;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3767138" target="_blank">rs3767138</a>;ExAC.Info.AC=94744;ExAC.Info.AN=122084;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=9950;ExAC.Info.AC_Hom=20155;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7738-14T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7738A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7738A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7738A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In59/60;SAVANT_HGVS=c.7738-14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.7738-14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22174600">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,1305:116	0|1:18,31:49:99:811,0,465:116	0|1:16,18:34:99:497,0,444:116
1	22180548	.	T	C	4196.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs12117402;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12117402" target="_blank">rs12117402</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6439+138A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6440T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6440T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6440T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In50/51;SAVANT_HGVS=c.6439+138A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.6439+138A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22180548">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1778:127	0|1:30,44:74:99:1466,0,776:127	0|1:23,21:44:99:652,0,633:127
1	22183739	.	A	G	5546.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=293;MQ=69.93;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs2305562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2305562" target="_blank">rs2305562</a>;ExAC.Info.AC=63883;ExAC.Info.AN=126704;ExAC.Info.AF=0.504;ExAC.Info.AC_Het=31027;ExAC.Info.AC_Hom=16405;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5394+39T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5395A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5395A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5395A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In43/44;SAVANT_HGVS=c.5394+39T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.5394+39T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22183739">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,330,3876:127	0|1:58,55:113:99:1714,0,1804:127	0|1:36,34:70:99:1079,0,1136:127
1	22186113	.	T	G	279.09	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199860743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199860743" target="_blank">rs199860743</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=12216;ExAC.Info.AN=124848;ExAC.Info.AF=0.098;ExAC.Info.AC_Het=11097;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5239T>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5239T>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5239T>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Ccc;snpeff.Amino_Acid_Change=p.Thr1747Pro/c.5239A>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.5239A>C_p.Thr1747Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.5239A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22186113">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,17:48:99:114,0,936:44	0|0:41,8:49:44:0,44,1316:44	1|0:31,16:47:93:93,0,811:44
1	22186234	.	A	G	10687.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs10917056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10917056" target="_blank">rs10917056</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5183-65T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5183A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5183A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5183A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.5183-65T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.5183-65T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22186234">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1542,123,0:127	1|1:0,50:50:99:1659,150,0:127	1|1:0,43:43:99:1474,129,0:127
1	22191454	.	G	A	21755.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs897471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=897471" target="_blank">rs897471</a>;ExAC.Info.AC=87873;ExAC.Info.AN=124426;ExAC.Info.AF=0.706;ExAC.Info.AC_Het=18943;ExAC.Info.AC_Hom=26024;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4508G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4508G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4508G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4508G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala1503Val/c.4508C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.4508C>T_p.Ala1503Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.4508C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22191454">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2324,204,0:127	1|1:0,97:97:99:3367,291,0:127	1|1:0,70:70:99:2461,210,0:127
1	22199081	.	A	T	6733.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs2501266;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2501266" target="_blank">rs2501266</a>;ExAC.Info.AC=115740;ExAC.Info.AN=116492;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=269;ExAC.Info.AC_Hom=23266;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4029+32T>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.4029+32T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.4029+32T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22199081">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,18:18:54:605,54,0:53	1|1:0,41:41:99:1383,123,0:53	1|1:0,18:18:54:615,54,0:53
1	22199245	.	C	T	2572.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs2229482;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229482" target="_blank">rs2229482</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=68688;ExAC.Info.AN=126214;ExAC.Info.AF=0.544;ExAC.Info.AC_Het=26437;ExAC.Info.AC_Hom=18362;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3897C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3897C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3897C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3897C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val1299Val/c.3897G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.3897G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.3897G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22199245">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1613:127	0|1:20,26:46:99:769,0,621:127	0|1:12,19:31:99:537,0,320:127
1	22202109	.	C	T	20913.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs2501265;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2501265" target="_blank">rs2501265</a>;ExAC.Info.AC=124635;ExAC.Info.AN=126686;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=1687;ExAC.Info.AC_Hom=61227;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3302+13G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3303C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3303C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3303C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3303C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3303C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3302+13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.3302+13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22202109">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2681,231,0:127	1|1:0,85:85:99:3162,256,0:127	1|1:0,78:78:99:2718,234,0:127
1	22204630	.	G	A	6568.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs7513608;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7513608" target="_blank">rs7513608</a>;ExAC.Info.AC=32636;ExAC.Info.AN=126480;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=20661;ExAC.Info.AC_Hom=4660;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2685+49C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2686G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2686G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2686G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2686G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2685+49C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.2685+49C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22204630">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1361,117,0:116	1|0:18,24:42:99:720,0,578:116	1|0:23,13:36:99:384,0,849:116
1	22205408	.	T	C	11621.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs2454294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2454294" target="_blank">rs2454294</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2471+79A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2472T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2472T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2472T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2472T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2472T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2471+79A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.2471+79A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22205408">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1396,129,0:127	1|1:0,56:56:99:1925,168,0:127	1|1:0,44:44:99:1505,132,0:127
1	22205466	.	T	C	12596.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=153;MQ=69.92;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs2454293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2454293" target="_blank">rs2454293</a>;ExAC.Info.AC=124754;ExAC.Info.AN=126472;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1323;ExAC.Info.AC_Hom=59318;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2471+21A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2472T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2472T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2472T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2472T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2472T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2471+21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.2471+21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22205466">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1636,138,0:127	1|1:0,64:64:99:2258,192,0:127	1|1:0,43:43:99:1616,129,0:127
1	22206649	.	T	C	32839.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs989994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=989994" target="_blank">rs989994</a>;ExAC.Info.AC=124349;ExAC.Info.AN=126702;ExAC.Info.AF=0.981;ExAC.Info.AC_Het=1870;ExAC.Info.AC_Hom=61139;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2294T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2294T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2294T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn765Ser/c.2294A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2294A>G_p.Asn765Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.2294A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22206649">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:4830,409,0:127	1|1:0,148:148:99:5470,444,0:127	1|1:0,105:105:99:4013,315,0:127
1	22206942	.	G	A	18971.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs1874793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1874793" target="_blank">rs1874793</a>;ExAC.Info.AC=124322;ExAC.Info.AN=126670;ExAC.Info.AF=0.981;ExAC.Info.AC_Het=1850;ExAC.Info.AC_Hom=60919;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2109G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2109G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2109G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2109G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala703Ala/c.2109C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2109C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.2109C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22206942">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2327,201,0:127	1|1:0,75:75:99:2574,225,0:127	1|1:0,61:61:99:2089,183,0:127
1	22207235	.	T	C	13232.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1874792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1874792" target="_blank">rs1874792</a>;ExAC.Info.AC=124381;ExAC.Info.AN=125384;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=641;ExAC.Info.AC_Hom=49779;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1912T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1912T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1912T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1912T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met638Val/c.1912A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1912A>G_p.Met638Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.1912A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22207235">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1693,150,0:119	1|1:0,54:54:99:1998,162,0:119	1|1:0,40:40:99:1477,120,0:119
1	22207804	.	ACCCAGGGTGGCAG	A	41002.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=354;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs139046040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139046040" target="_blank">rs139046040</a>;ExAC.Info.AC=125259;ExAC.Info.AN=126652;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1225;ExAC.Info.AC_Hom=61902;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1818+15_1818+27delCTGCCACCCTGGG;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1819_1831delCCCAGGGTGGCAG;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1819_1831delCCCAGGGTGGCAG;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1819_1831delCCCAGGGTGGCAG;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1819_1831delCCCAGGGTGGCAG;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1818+15_1818+27del13;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.1818+15_1818+27del13+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22207804">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:4758,322,0:127	1|1:0,141:141:99:6335,426,0:127	1|1:0,106:106:99:4741,320,0:127
1	22211217	.	G	A	14733.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs2290493;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2290493" target="_blank">rs2290493</a>;ExAC.Info.AC=33074;ExAC.Info.AN=125930;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=20519;ExAC.Info.AC_Hom=4947;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1507+43C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1508G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1508G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1508G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1507+43C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.1507+43C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22211217">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2274,204,0:127	1|0:45,52:97:99:1483,0,1073:127	1|0:38,37:75:99:1022,0,991:127
1	22211222	.	T	C	28447.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs4654994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4654994" target="_blank">rs4654994</a>;ExAC.Info.AC=114061;ExAC.Info.AN=125488;ExAC.Info.AF=0.909;ExAC.Info.AC_Het=9105;ExAC.Info.AC_Hom=48063;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1507+38A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1508T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1508T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1508T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1507+38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.1507+38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22211222">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:3249,223,0:127	1|1:0,99:99:99:4005,301,0:127	1|1:0,75:75:99:3059,226,0:127
1	22214127	.	A	G	14638.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2229478;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229478" target="_blank">rs2229478</a>;ExAC.Info.AC=52689;ExAC.Info.AN=126692;ExAC.Info.AF=0.416;ExAC.Info.AC_Het=28551;ExAC.Info.AC_Hom=11960;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu248Leu/c.744T>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.744T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.744T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22214127">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2588,216,0:127	1|0:39,55:94:99:1493,0,1031:127	1|0:33,33:66:99:897,0,878:127
1	22216574	.	C	A	5798.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=383;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2254358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2254358" target="_blank">rs2254358</a>;ExAC.Info.AC=73224;ExAC.Info.AN=126704;ExAC.Info.AF=0.578;ExAC.Info.AC_Het=28422;ExAC.Info.AC_Hom=22380;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474C>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474C>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474C>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474C>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474C>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggT;snpeff.Amino_Acid_Change=p.Gly158Gly/c.474G>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.474G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.474G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22216574">View</a>	GT:AD:DP:GQ:PL:TP	0|0:119,0:119:99:0,358,4135:127	0|1:79,63:142:99:1789,0,2296:127	0|1:77,45:122:99:1130,0,2251:127
1	22216604	.	C	G	5679.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=414;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2254357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2254357" target="_blank">rs2254357</a>;ExAC.Info.AC=73225;ExAC.Info.AN=126702;ExAC.Info.AF=0.578;ExAC.Info.AC_Het=28426;ExAC.Info.AC_Hom=22384;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.444C>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.444C>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.444C>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.444C>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.444C>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu148Leu/c.444G>C;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.444G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.444G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22216604">View</a>	GT:AD:DP:GQ:PL:TP	0|0:136,0:136:99:0,408,4567:127	0|1:90,69:159:99:1877,0,2564:127	0|1:79,40:119:99:983,0,2287:127
1	22217108	.	G	A	21241.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs2501260;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2501260" target="_blank">rs2501260</a>;ExAC.Info.AC=124972;ExAC.Info.AN=126704;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1449;ExAC.Info.AC_Hom=61752;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe108Phe/c.324C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.324C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.324C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22217108">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2358,222,0:127	1|1:0,84:84:99:2928,253,0:127	1|1:0,102:102:99:3417,306,0:127
1	22225743	.	G	C	18205.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=356;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs2445142;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2445142" target="_blank">rs2445142</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64-2940C>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.64-2940C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.64-2940C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22225743">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:4182,351,0:127	1|0:77,48:125:99:1485,0,2416:127	1|0:58,56:114:99:1582,0,1661:127
1	22226998	.	T	C	5436.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs55823448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55823448" target="_blank">rs55823448</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64-4195A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.64-4195A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.64-4195A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22226998">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1369,117,0:116	1|0:20,8:28:99:248,0,619:116	1|0:15,4:19:99:110,0,489:116
1	22227091	.	T	C	11471.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs878949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=878949" target="_blank">rs878949</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64-4288A>G;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.64-4288A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.64-4288A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22227091">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2912,249,0:127	1|0:45,35:80:99:874,0,1124:127	1|0:34,22:56:99:535,0,899:127
1	22263551	.	G	A	737.37	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=13;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3)|Schwartz-Jampel_syndrome|_type_1|_255800_(3)|_Dyssegmental_dysplasia|_Silverman-Handmaker_type|_224410_(3);dbSNP139.ID=rs71514204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71514204" target="_blank">rs71514204</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.63+97C>T;snpeff.Amino_Acid_length=4391;snpeff.Gene_Name=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374695;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374695;SAVANT_GENE=HSPG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2" target="_blank">HSPG2</a>;SAVANT_INFO=-/115.1kb/97/14.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.63+97C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPG2+c.63+97C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22263551">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:12:152,12,0:12	1|0:4,1:5:27:27,0,148:12	1|0:3,1:4:30:30,0,81:12
1	22304463	.	A	G	437.64	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=6;MQ=50.17;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12058649;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12058649" target="_blank">rs12058649</a>;ExAC.Info.AC=2364;ExAC.Info.AN=5728;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=112;ExAC.Info.AC_Hom=36;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.44-399A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide:Or_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.44A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide:Or_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.44A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.44-399A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.44-399A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22304463">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,2:2:6:70,6,0	1|1:0,4:4:12:161,12,0
1	22307478	.	G	A	1190.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=147;MQ=69.87;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72662488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72662488" target="_blank">rs72662488</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228-53G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.228-53G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.228-53G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22307478">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1822:127	0|0:48,0:48:99:0,144,1654:127	0|1:24,24:48:99:614,0,663:127
1	22307538	.	C	T	9246.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7528405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7528405" target="_blank">rs7528405</a>;ExAC.Info.AC=121064;ExAC.Info.AN=126704;ExAC.Info.AF=0.955;ExAC.Info.AC_Het=4695;ExAC.Info.AC_Hom=58161;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg79Trp/c.235C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.235C>T_p.Arg79Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.235C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22307538">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1238,111,0:92	1|1:0,42:42:99:1616,129,0:92	1|1:0,31:31:93:1130,93,0:92
1	22310262	.	G	C	15722.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=180;MQ=52.17;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10733033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10733033" target="_blank">rs10733033</a>;ExAC.Info.AC=120457;ExAC.Info.AN=126702;ExAC.Info.AF=0.951;ExAC.Info.AC_Het=5087;ExAC.Info.AC_Hom=57643;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro146Pro/c.438G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.438G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.438G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22310262">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1863,171,0:127	1|1:0,63:63:99:2143,189,0:127	1|1:0,60:60:99:1996,180,0:127
1	22310662	.	G	T	44193.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=531;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6426735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6426735" target="_blank">rs6426735</a>;ExAC.Info.AC=115256;ExAC.Info.AN=126674;ExAC.Info.AF=0.910;ExAC.Info.AC_Het=9555;ExAC.Info.AC_Hom=52124;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.500-20G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.500-20G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.500-20G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22310662">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,191:191:99:6457,573,0:127	1|1:0,169:169:99:5796,507,0:127	1|1:0,171:171:99:5990,513,0:127
1	22310674	.	C	T	41485.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=518;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7538207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7538207" target="_blank">rs7538207</a>;ExAC.Info.AC=118276;ExAC.Info.AN=126682;ExAC.Info.AF=0.934;ExAC.Info.AC_Het=6882;ExAC.Info.AC_Hom=55323;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.500-8C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.500-8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.500-8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22310674">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,183:185:99:5875,520,0:127	1|1:0,174:174:99:5698,521,0:127	1|1:0,159:159:99:5531,477,0:127
1	22310725	.	G	C	25990.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3820287;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820287" target="_blank">rs3820287</a>;ExAC.Info.AC=115317;ExAC.Info.AN=126704;ExAC.Info.AF=0.910;ExAC.Info.AC_Het=9599;ExAC.Info.AC_Hom=52836;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.543G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.543G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.543G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.543G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.543G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.543G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.543G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.543G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.543G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.543G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro181Pro/c.543G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.543G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.543G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22310725">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3551,312,0:127	1|1:0,107:107:99:3722,321,0:127	1|1:0,100:100:99:3428,300,0:127
1	22313161	.	T	C	16717.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=191;MQ=68.12;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1803530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1803530" target="_blank">rs1803530</a>;ExAC.Info.AC=120494;ExAC.Info.AN=126700;ExAC.Info.AF=0.951;ExAC.Info.AC_Het=5041;ExAC.Info.AC_Hom=57628;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.780T>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.780T>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.780T>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.780T>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.780T>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.780T>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.780T>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile260Ile/c.780T>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.780T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.780T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22313161">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2045,186,0:127	1|1:0,65:65:99:2242,195,0:127	1|1:0,64:64:99:2204,192,0:127
1	22313469	.	G	C	1421.07	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=30;MQ=62.21;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3806296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3806296" target="_blank">rs3806296</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.795+293G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.795+293G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.795+293G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22313469">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:442,36,0:35	1|0:3,10:13:79:342,0,79:35	1|0:4,1:5:30:30,0,139:35
1	22313521	.	G	T	1636.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=36;MQ=58.14;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs71638814;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71638814" target="_blank">rs71638814</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.795+345G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.795+345G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.795+345G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22313521">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:391,36,0:35	1|0:3,14:17:44:347,0,44:35	1|0:2,5:7:68:132,0,68:35
1	22315710	.	G	A	6481.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=306;MQ=48.57;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12071902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12071902" target="_blank">rs12071902</a>;ExAC.Info.AC=11603;ExAC.Info.AN=62756;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=7264;ExAC.Info.AC_Hom=6;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.796-45G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.796-45G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.796-45G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22315710">View</a>	GT:AD:DP:GQ:PL:TP	0/1:67,57:124:99:1362,0,1744:127	0/1:60,31:91:99:698,0,1728:127	0/1:67,24:91:99:567,0,1936:127
1	22315738	.	C	T	14899.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=228;MQ=50.02;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4655006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4655006" target="_blank">rs4655006</a>;ExAC.Info.AC=27673;ExAC.Info.AN=58270;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=4425;ExAC.Info.AC_Hom=6985;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.796-17C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.796C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337107;SAVANT_GENE=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=+/12.3kb/8/0.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.796-17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+c.796-17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22315738">View</a>	GT:AD:DP:GQ:PL:TP	1|1:4,78:82:99:2179,202,0:127	1|1:2,72:74:99:2142,199,0:127	1|1:5,67:72:99:1764,160,0:127
1	22324705	.	T	C	22092.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=423;MQ=69.71;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs7534936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7534936" target="_blank">rs7534936</a>;ExAC.Info.AC=8642;ExAC.Info.AN=22300;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=4302;ExAC.Info.AC_Hom=1877;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CELA3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B" target="_blank">CELA3B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22324705">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4301,398,0:127	1|0:56,90:146:99:2338,0,1468:127	1|0:67,77:144:99:1980,0,1883:127
1	22328279	.	C	T	16508.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=276;MQ=69.97;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12751986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12751986" target="_blank">rs12751986</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.43+69C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide:Or_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.44C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide:Or_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.44C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290122;SAVANT_GENE=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;SAVANT_INFO=+/10.9kb/8/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.43+69C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3A+c.43+69C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22328279">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2884,241,0:127	1|0:59,51:110:99:1423,0,1646:127	1|0:36,50:86:99:1468,0,962:127
1	22333538	.	A	G	920.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=178;MQ=67.33;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11583776;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11583776" target="_blank">rs11583776</a>;ExAC.Info.AC=5802;ExAC.Info.AN=126596;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=4906;ExAC.Info.AC_Hom=391;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.499+31A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290122;SAVANT_GENE=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;SAVANT_INFO=+/10.9kb/8/0.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.499+31A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3A+c.499+31A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22333538">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,176,2043:127	0|0:72,0:72:99:0,216,2461:127	0|1:31,16:47:99:479,0,876:127
1	22336277	.	C	G	17489.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=198;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3820285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820285" target="_blank">rs3820285</a>;ExAC.Info.AC=119551;ExAC.Info.AN=126606;ExAC.Info.AF=0.944;ExAC.Info.AC_Het=5764;ExAC.Info.AC_Hom=56854;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.722C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.722C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.722C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.722C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.722C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.722C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.722C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.722C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.722C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gGc;snpeff.Amino_Acid_Change=p.Ala241Gly/c.722C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290122;SAVANT_GENE=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;SAVANT_INFO=+/10.9kb/8/0.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.722C>G_p.Ala241Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3A+c.722C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22336277">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2152,195,0:127	1|1:0,80:80:99:2843,240,0:127	1|1:0,53:53:99:1927,159,0:127
1	22336305	.	C	T	17271.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=211;MQ=69.21;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs9187;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9187" target="_blank">rs9187</a>;ExAC.Info.AC=31306;ExAC.Info.AN=126676;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=26036;ExAC.Info.AC_Hom=2164;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.750C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.750C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.750C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.750C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.750C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.750C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.750C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro250Pro/c.750C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290122;SAVANT_GENE=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;SAVANT_INFO=+/10.9kb/8/0.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.750C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3A+c.750C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22336305">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,71:73:99:3056,130,0:127	1|0:43,38:81:99:1441,0,1713:127	1|0:28,29:57:99:1133,0,1088:127
1	22336308	.	G	A	17026.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=206;MQ=69.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12908" target="_blank">rs12908</a>;ExAC.Info.AC=31314;ExAC.Info.AN=126680;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=26031;ExAC.Info.AC_Hom=2180;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr251Thr/c.753G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290122;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290122;SAVANT_GENE=CELA3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3A" target="_blank">CELA3A</a>;SAVANT_INFO=+/10.9kb/8/0.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.753G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELA3A+c.753G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22336308">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,67:69:99:3031,127,0:127	1|0:45,36:81:99:1378,0,1747:127	1|0:28,28:56:99:1133,0,1088:127
1	22408106	.	G	A	26610.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2501282;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2501282" target="_blank">rs2501282</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.232-109G>A;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=CDC42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42" target="_blank">CDC42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421089;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344548;SAVANT_GENE=CDC42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42" target="_blank">CDC42</a>;SAVANT_INFO=+/40.3kb/7/2.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.106-109G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42+c.106-109G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22408106">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,102:102:99:3448,306,0:127	1|1:0,121:121:99:4018,363,0:127	1|1:0,105:105:99:3531,315,0:127
1	22827931	.	C	T	2248.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4655071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4655071" target="_blank">rs4655071</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.832-54C>T;snpeff.Amino_Acid_length=1239;snpeff.Gene_Name=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375647;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404138;SAVANT_GENE=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;SAVANT_INFO=+/79.3kb/19/9.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.832-54C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB40+c.832-54C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22827931">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,161,1956:127	0|1:51,41:92:99:1143,0,1650:127	0|0:69,0:69:99:0,207,2566:127
1	22832743	.	A	T	22709.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=499;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs209732;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=209732" target="_blank">rs209732</a>;ExAC.Info.AC=87612;ExAC.Info.AN=126694;ExAC.Info.AF=0.692;ExAC.Info.AC_Het=25093;ExAC.Info.AC_Hom=31030;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1360+9A>T;snpeff.Amino_Acid_length=1239;snpeff.Gene_Name=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375647;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404138;SAVANT_GENE=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;SAVANT_INFO=+/79.3kb/19/9.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1360+9A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB40+c.1360+9A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22832743">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,81:158:99:2200,0,1989:127	1|1:0,187:187:99:6352,562,0:127	0|1:70,84:154:99:2318,0,1972:127
1	22835677	.	A	G	47424.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=1015;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs209729;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=209729" target="_blank">rs209729</a>;ExAC.Info.AC=96801;ExAC.Info.AN=126704;ExAC.Info.AF=0.764;ExAC.Info.AC_Het=21919;ExAC.Info.AC_Hom=37440;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAc/tGc;snpeff.Amino_Acid_Change=p.Tyr595Cys/c.1784A>G;snpeff.Amino_Acid_length=1239;snpeff.Gene_Name=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375647;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404138;SAVANT_GENE=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;SAVANT_INFO=+/79.3kb/19/9.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1784A>G_p.Tyr595Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB40+c.1784A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22835677">View</a>	GT:AD:DP:GQ:PL:TP	0|1:185,127:312:99:3505,0,4971:127	1|1:1,374:375:99:13669,1091,0:127	0|1:156,172:328:99:5406,0,4210:127
1	22837849	.	C	T	5760.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=519;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs209727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=209727" target="_blank">rs209727</a>;ExAC.Info.AC=52309;ExAC.Info.AN=126704;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=28106;ExAC.Info.AC_Hom=11976;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2002+9C>T;snpeff.Amino_Acid_length=1239;snpeff.Gene_Name=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375647;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404138;SAVANT_GENE=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;SAVANT_INFO=+/79.3kb/19/9.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2002+9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB40+c.2002+9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22837849">View</a>	GT:AD:DP:GQ:PL:TP	0|0:152,0:152:99:0,457,5167:127	0|1:101,102:203:99:2899,0,2927:127	0|0:164,0:164:99:0,493,5727:127
1	22837944	.	T	C	9884.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2073168;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2073168" target="_blank">rs2073168</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2002+104T>C;snpeff.Amino_Acid_length=1239;snpeff.Gene_Name=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375647;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404138;SAVANT_GENE=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;SAVANT_INFO=+/79.3kb/19/9.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2002+104T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB40+c.2002+104T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22837944">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,54:112:99:1619,0,1517:127	0/1:48,58:106:99:1894,0,1331:127	0/1:76,49:125:99:1328,0,2274:127
1	22846709	.	G	A	34252.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs209720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=209720" target="_blank">rs209720</a>;ExAC.Info.AC=126329;ExAC.Info.AN=126704;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=369;ExAC.Info.AC_Hom=62950;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2989G>A;snpeff.Amino_Acid_length=1239;snpeff.Gene_Name=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375647;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val997Met/c.2989G>A;snpeff.Amino_Acid_length=1239;snpeff.Gene_Name=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375647;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404138;SAVANT_GENE=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;SAVANT_INFO=+/79.3kb/19/9.0kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2989G>A_p.Val997Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB40+c.2989G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22846709">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4687,412,0:127	1|1:0,153:153:99:5590,460,0:127	1|1:0,128:128:99:4782,385,0:127
1	22848972	.	A	C	5066.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61769198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61769198" target="_blank">rs61769198</a>;ExAC.Info.AC=22398;ExAC.Info.AN=126704;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=17793;ExAC.Info.AC_Hom=2302;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3298+16A>C;snpeff.Amino_Acid_length=1239;snpeff.Gene_Name=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375647;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404138;SAVANT_GENE=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;SAVANT_INFO=+/79.3kb/19/9.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3298+16A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB40+c.3298+16A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22848972">View</a>	GT:AD:DP:GQ:PL:TP	0|0:184,0:184:99:0,552,6390:127	0|1:98,93:191:99:2552,0,3020:127	0|0:151,0:151:99:0,454,5432:127
1	22849003	.	A	C	16451.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=488;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs998978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=998978" target="_blank">rs998978</a>;ExAC.Info.AC=43492;ExAC.Info.AN=126702;ExAC.Info.AF=0.343;ExAC.Info.AC_Het=27451;ExAC.Info.AC_Hom=8004;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3298+47A>C;snpeff.Amino_Acid_length=1239;snpeff.Gene_Name=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375647;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404138;SAVANT_GENE=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;SAVANT_INFO=+/79.3kb/19/9.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3298+47A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB40+c.3298+47A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22849003">View</a>	GT:AD:DP:GQ:PL:TP	0/1:86,83:169:99:2496,0,2408:127	0/1:89,96:185:99:2973,0,2558:127	0/1:72,62:134:99:1873,0,2126:127
1	22852715	.	G	C	9342.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs881646;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=881646" target="_blank">rs881646</a>;ExAC.Info.AC=43451;ExAC.Info.AN=126702;ExAC.Info.AF=0.343;ExAC.Info.AC_Het=27412;ExAC.Info.AC_Hom=7998;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro1182Pro/c.3546G>C;snpeff.Amino_Acid_length=1239;snpeff.Gene_Name=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375647;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404138;SAVANT_GENE=ZBTB40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB40" target="_blank">ZBTB40</a>;SAVANT_INFO=+/79.3kb/19/9.0kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.3546G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB40+c.3546G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22852715">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,35:84:99:914,0,1414:127	0/1:61,54:115:99:1474,0,1713:127	0/1:54,39:93:99:994,0,1524:127
1	22913153	.	T	C	15705.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs638058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=638058" target="_blank">rs638058</a>;ExAC.Info.AC=49459;ExAC.Info.AN=126630;ExAC.Info.AF=0.391;ExAC.Info.AC_Het=28041;ExAC.Info.AC_Hom=10388;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.979+25T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.980T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.980T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.980T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.980T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.980T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.980T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.980T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.980T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000166244;SAVANT_GENE=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;SAVANT_INFO=+/40.0kb/17/4.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.979+25T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA8+c.979+25T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22913153">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2286,198,0:127	1|0:59,49:108:99:1331,0,1490:127	1|0:24,40:64:99:1201,0,619:127
1	22915753	.	T	C	9681.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs606002;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=606002" target="_blank">rs606002</a>;ExAC.Info.AC=50531;ExAC.Info.AN=126688;ExAC.Info.AF=0.399;ExAC.Info.AC_Het=28887;ExAC.Info.AC_Hom=10665;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1315+54T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000166244;SAVANT_GENE=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;SAVANT_INFO=+/40.0kb/17/4.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1315+54T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA8+c.1315+54T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22915753">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1868,156,0:127	1|0:46,32:78:99:879,0,1375:127	1|0:24,23:47:99:710,0,682:127
1	22919904	.	C	T	3148.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs209696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=209696" target="_blank">rs209696</a>;ExAC.Info.AC=35009;ExAC.Info.AN=124500;ExAC.Info.AF=0.281;ExAC.Info.AC_Het=18629;ExAC.Info.AC_Hom=4460;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn467Asn/c.1401C>T;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000166244;SAVANT_GENE=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;SAVANT_INFO=+/40.0kb/17/4.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1401C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA8+c.1401C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22919904">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,297,3287:127	0|1:55,55:110:99:1593,0,1578:127	0|0:84,0:84:99:0,252,2824:127
1	22920094	.	C	G	10728.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs56157621;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56157621" target="_blank">rs56157621</a>;ExAC.Info.AC=4128;ExAC.Info.AN=126180;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=3737;ExAC.Info.AC_Hom=97;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acG;snpeff.Amino_Acid_Change=p.Thr506Thr/c.1518C>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000166244;SAVANT_GENE=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;SAVANT_INFO=+/40.0kb/17/4.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1518C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA8+c.1518C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22920094">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2401,209,0:127	1|0:39,32:71:99:881,0,1241:127	1|0:38,29:67:99:818,0,1245:127
1	22924364	.	G	A	13705.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs72651347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72651347" target="_blank">rs72651347</a>;ExAC.Info.AC=4108;ExAC.Info.AN=126450;ExAC.Info.AF=0.032;ExAC.Info.AC_Het=3768;ExAC.Info.AC_Hom=95;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2116+10G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000166244;SAVANT_GENE=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;SAVANT_INFO=+/40.0kb/17/4.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2116+10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA8+c.2116+10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22924364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2357,198,0:127	1|0:59,42:101:99:1234,0,1756:127	1|0:36,42:78:99:1306,0,1032:127
1	22927241	.	G	A	8233.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72651352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72651352" target="_blank">rs72651352</a>;ExAC.Info.AC=86;ExAC.Info.AN=126694;ExAC.Info.AF=6.788e-04;ExAC.Info.AC_Het=86;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val826Met/c.2476G>A;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000166244;SAVANT_GENE=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;SAVANT_INFO=+/40.0kb/17/4.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2476G>A_p.Val826Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA8+c.2476G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22927241">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,48:109:99:1246,0,1526:127	1|0:66,57:123:99:1410,0,1836:127	0|0:82,0:82:99:0,246,2805:127
1	22927314	.	A	G	28715.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs209702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=209702" target="_blank">rs209702</a>;ExAC.Info.AC=57589;ExAC.Info.AN=126522;ExAC.Info.AF=0.455;ExAC.Info.AC_Het=29132;ExAC.Info.AC_Hom=13473;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2538+11A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000166244;SAVANT_GENE=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;SAVANT_INFO=+/40.0kb/17/4.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2538+11A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA8+c.2538+11A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22927314">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:4006,277,0:127	1|1:0,112:112:99:4922,343,0:127	1|0:47,32:79:99:1117,0,1775:127
1	22927326	.	T	G	26897.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs209701;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=209701" target="_blank">rs209701</a>;ExAC.Info.AC=48415;ExAC.Info.AN=126420;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=27195;ExAC.Info.AC_Hom=9790;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2538+23T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539T>G;snpeff.Amino_Acid_length=1005;snpeff.Gene_Name=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000166244;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000166244;SAVANT_GENE=EPHA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA8" target="_blank">EPHA8</a>;SAVANT_INFO=+/40.0kb/17/4.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2538+23T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA8+c.2538+23T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22927326">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:3852,262,0:127	1|1:0,102:102:99:4626,316,0:127	1|0:41,28:69:99:1096,0,1679:127
1	22965438	.	A	G	3154.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=C1q_deficiency|_613652_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs172378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=172378" target="_blank">rs172378</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Subacute_cutaneous_lupus_erythematosus|_association_with;hgmd_2014.2.OMIM_ID=120550;hgmd_2014.2.PubMed=12630757;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12630757" target="_blank">12630757</a>;ExAC.Info.AC=58442;ExAC.Info.AN=125186;ExAC.Info.AF=0.467;ExAC.Info.AC_Het=22782;ExAC.Info.AC_Hom=11681;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276A>G;snpeff.Amino_Acid_length=245;snpeff.Gene_Name=C1QA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QA" target="_blank">C1QA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402322;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276A>G;snpeff.Amino_Acid_length=245;snpeff.Gene_Name=C1QA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QA" target="_blank">C1QA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402322;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly92Gly/c.276A>G;snpeff.Amino_Acid_length=245;snpeff.Gene_Name=C1QA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QA" target="_blank">C1QA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402322;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374642;SAVANT_GENE=C1QA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QA" target="_blank">C1QA</a>;SAVANT_INFO=+/3.1kb/3/1.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.276A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1QA+c.276A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22965438">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,229,2708:127	0|1:41,49:90:99:1596,0,1201:127	0|0:93,0:93:99:0,279,3094:127
1	22970642	.	C	T	3004.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=C1q_deficiency|_613652_(3);dbSNP139.ID=rs15940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=15940" target="_blank">rs15940</a>;ExAC.Info.AC=29902;ExAC.Info.AN=123720;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=14918;ExAC.Info.AC_Hom=2795;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro42Pro/c.126C>T;snpeff.Amino_Acid_length=245;snpeff.Gene_Name=C1QC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QC" target="_blank">C1QC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374640;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374639;SAVANT_GENE=C1QC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QC" target="_blank">C1QC</a>;SAVANT_INFO=+/4.5kb/3/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.126C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1QC+c.126C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22970642">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,270,2997:127	0|1:60,53:113:99:1521,0,1684:127	0|0:84,0:84:99:0,252,2812:127
1	22987958	.	A	G	25457.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=303;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=C1q_deficiency|_613652_(3);dbSNP139.ID=rs10580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10580" target="_blank">rs10580</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=79;snpeff.Amino_Acid_Change=c.*79A>G;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=C1QB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QB" target="_blank">C1QB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314933;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314933;SAVANT_GENE=C1QB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QB" target="_blank">C1QB</a>;SAVANT_INFO=+/8.3kb/3/1.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*79A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1QB+c.*79A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:22987958">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:3235,264,0:127	1|1:1,116:117:99:4400,314,0:127	1|1:0,98:98:99:3705,295,0:127
1	23045943	.	A	G	5242.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3);dbSNP139.ID=rs2869513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2869513" target="_blank">rs2869513</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.61+8407A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374632;SAVANT_GENE=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;SAVANT_INFO=+/203.3kb/16/3.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.61+8407A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHB2+c.61+8407A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23045943">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,22:46:99:589,0,698:127	0|0:64,0:64:99:0,192,2034:127	1|1:0,56:56:99:1758,168,0:127
1	23101688	.	T	G	6579.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3);dbSNP139.ID=rs1561624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1561624" target="_blank">rs1561624</a>;ExAC.Info.AC=94464;ExAC.Info.AN=118740;ExAC.Info.AF=0.796;ExAC.Info.AC_Het=16779;ExAC.Info.AC_Hom=38468;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.62-6226T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374632;SAVANT_GENE=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;SAVANT_INFO=+/203.3kb/16/3.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.62-6226T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHB2+c.62-6226T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23101688">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,27:45:99:823,0,422:127	0|0:61,0:61:99:0,183,1890:127	1|1:0,63:63:99:2195,189,0:127
1	23107811	.	TA	T	470.02	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=24;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3);dbSNP139.ID=rs71020449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71020449" target="_blank">rs71020449</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.62-102delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delA;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000374632;SAVANT_GENE=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;SAVANT_INFO=+/203.3kb/16/3.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.62-85delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHB2+c.62-85delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23107811">View</a>	GT:AD:DP:GQ:PL:TP	1|0:2,2:4:22:22,0,32:7	0|1:4,4:8:45:45,0,45:7	1|1:2,10:12:7:138,7,0:7
1	23110948	.	G	A	4878.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=479;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72653677;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72653677" target="_blank">rs72653677</a>;ExAC.Info.AC=5;ExAC.Info.AN=126700;ExAC.Info.AF=3.946e-05;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Eph_LBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val64Met/c.190G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374632;SAVANT_GENE=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;SAVANT_INFO=+/203.3kb/16/3.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.190G>A_p.Val64Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHB2+c.190G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23110948">View</a>	GT:AD:DP:GQ:PL:TP	0|0:146,0:146:99:0,439,5258:127	0|1:92,85:177:99:2458,0,2795:127	0|0:156,0:156:99:0,469,5563:127
1	23208925	.	G	A	9674.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3);dbSNP139.ID=rs2229872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229872" target="_blank">rs2229872</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=17422;ExAC.Info.AN=126704;ExAC.Info.AF=0.138;ExAC.Info.AC_Het=13395;ExAC.Info.AC_Hom=2013;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro459Pro/c.1377G>A;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374632;SAVANT_GENE=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;SAVANT_INFO=+/203.3kb/16/3.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1377G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHB2+c.1377G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23208925">View</a>	GT:AD:DP:GQ:PL:TP	0/1:64,48:112:99:1198,0,1684:127	0/1:55,61:116:99:1754,0,1421:127	0/1:45,35:80:99:953,0,1239:127
1	23216712	.	T	C	3141.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3);dbSNP139.ID=rs309474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=309474" target="_blank">rs309474</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1429-2665T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374632;SAVANT_GENE=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;SAVANT_INFO=+/203.3kb/16/3.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1429-2665T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHB2+c.1429-2665T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23216712">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,13:28:99:418,0,464:81	1|0:21,27:48:99:807,0,550:81	0|0:27,0:27:81:0,81,1029:81
1	23219493	.	T	C	35765.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3);dbSNP139.ID=rs309472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=309472" target="_blank">rs309472</a>;ExAC.Info.AC=126242;ExAC.Info.AN=126702;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=458;ExAC.Info.AC_Hom=62861;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly515Gly/c.1545T>C;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374632;SAVANT_GENE=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;SAVANT_INFO=+/203.3kb/16/3.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1545T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHB2+c.1545T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23219493">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4903,412,0:127	1|1:0,140:140:99:5180,420,0:127	1|1:0,143:143:99:4968,429,0:127
1	23233600	.	A	G	9364.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3)|Prostate_cancer|_progression_and_metastasis_of|_603688_(3);dbSNP139.ID=rs309500;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=309500" target="_blank">rs309500</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2136+150A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2137A>G;snpeff.Amino_Acid_length=1055;snpeff.Gene_Name=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400191;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374632;SAVANT_GENE=EPHB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHB2" target="_blank">EPHB2</a>;SAVANT_INFO=+/203.3kb/16/3.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2139+150A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHB2+c.2139+150A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23233600">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,30:58:99:898,0,802:127	1|1:0,88:88:99:3368,265,0:127	0|0:74,0:74:99:0,223,2664:127
1	23280424	.	G	T	2222.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12048993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12048993" target="_blank">rs12048993</a>;ExAC.Info.AC=6570;ExAC.Info.AN=20032;ExAC.Info.AF=0.328;ExAC.Info.AC_Het=3677;ExAC.Info.AC_Hom=1138;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaC/aaA;snpeff.Amino_Acid_Change=p.Asn251Lys/c.753C>A;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=LACTBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LACTBL1" target="_blank">LACTBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426928;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426928;SAVANT_GENE=LACTBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LACTBL1" target="_blank">LACTBL1</a>;SAVANT_INFO=-/11.6kb/6/0.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.719C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LACTBL1+c.719C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23280424">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2306:127	0|1:21,38:59:99:1130,0,610:127	0|0:85,0:85:99:0,255,2944:127
1	23281917	.	G	T	2752.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72655581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72655581" target="_blank">rs72655581</a>;ExAC.Info.AC=90;ExAC.Info.AN=22570;ExAC.Info.AF=3.988e-03;ExAC.Info.AC_Het=75;ExAC.Info.AC_Hom=0;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556C>A;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=LACTBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LACTBL1" target="_blank">LACTBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426928;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Atg;snpeff.Amino_Acid_Change=p.Leu186Met/c.556C>A;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=LACTBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LACTBL1" target="_blank">LACTBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426928;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426928;SAVANT_GENE=LACTBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LACTBL1" target="_blank">LACTBL1</a>;SAVANT_INFO=-/11.6kb/6/0.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.522C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LACTBL1+c.522C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23281917">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,25:56:99:552,0,929:127	0|0:74,0:74:99:0,221,2737:127	1|0:34,17:51:99:382,0,1104:127
1	23289568	.	T	C	4211.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10799777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10799777" target="_blank">rs10799777</a>;ExAC.Info.AC=6573;ExAC.Info.AN=14752;ExAC.Info.AF=0.446;ExAC.Info.AC_Het=1006;ExAC.Info.AC_Hom=894;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.159+32A>G;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=LACTBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LACTBL1" target="_blank">LACTBL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426928;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426928;SAVANT_GENE=LACTBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LACTBL1" target="_blank">LACTBL1</a>;SAVANT_INFO=-/11.6kb/6/0.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.125+32A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LACTBL1+c.125+32A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23289568">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,13:21:99:368,0,198:78	0|1:18,14:32:99:456,0,547:78	1|1:0,26:26:78:944,78,0:78
1	23342362	.	A	G	12733.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs681648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=681648" target="_blank">rs681648</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=681648" target="_blank">rs681648</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23342362">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1451,132,0:127	1|1:0,68:68:99:2387,204,0:127	1|1:0,51:51:99:1731,153,0:127
1	23385826	.	CTT	C	6664.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs79588010;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79588010" target="_blank">rs79588010</a>;ExAC.Info.AC=34388;ExAC.Info.AN=123872;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=19706;ExAC.Info.AC_Hom=3784;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1167+167_1167+168delTT;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=KDM1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM1A" target="_blank">KDM1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400181;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.261+28463_261+28464delAA;snpeff.Gene_Name=RP1-184J9.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM1A" target="_blank">KDM1A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427154;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000400181;SAVANT_GENE=KDM1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM1A" target="_blank">KDM1A</a>;SAVANT_INFO=+/64.2kb/21/3.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1167+167_1167+168delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KDM1A+c.1167+167_1167+168delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23385826">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,28:59:99:1048,0,1295:127	1|0:35,46:81:99:1826,0,1423:127	0|0:81,0:81:99:0,244,3956:127
1	23399932	.	C	T	26482.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs967605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=967605" target="_blank">rs967605</a>;ExAC.Info.AC=97522;ExAC.Info.AN=126668;ExAC.Info.AF=0.770;ExAC.Info.AC_Het=20190;ExAC.Info.AC_Hom=38558;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1734+36C>T;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=KDM1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM1A" target="_blank">KDM1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400181;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.261+14359G>A;snpeff.Gene_Name=RP1-184J9.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM1A" target="_blank">KDM1A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427154;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735C>T;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=KDM1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM1A" target="_blank">KDM1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400181;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735C>T;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=KDM1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM1A" target="_blank">KDM1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000400181;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400181;SAVANT_GENE=KDM1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM1A" target="_blank">KDM1A</a>;SAVANT_INFO=+/64.2kb/21/3.1kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1734+36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KDM1A+c.1734+36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23399932">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3529,310,0:127	1|1:0,131:131:99:4380,394,0:127	1|1:0,110:110:99:3807,331,0:127
1	23418153	.	C	T	24526.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10799790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10799790" target="_blank">rs10799790</a>;ExAC.Info.AC=97736;ExAC.Info.AN=126700;ExAC.Info.AF=0.771;ExAC.Info.AC_Het=20117;ExAC.Info.AC_Hom=38790;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp868Asn/c.2602G>A;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=LUZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP1" target="_blank">LUZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302291;SAVANT_GENE=LUZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP1" target="_blank">LUZP1</a>;SAVANT_INFO=-/93.8kb/5/8.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.2602G>A_p.Asp868Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP1+c.2602G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23418153">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2641,249,0:127	1|1:0,123:123:99:4105,370,0:127	1|1:0,92:92:99:3105,276,0:127
1	23419261	.	G	A	24376.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs477717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=477717" target="_blank">rs477717</a>;ExAC.Info.AC=95773;ExAC.Info.AN=126700;ExAC.Info.AF=0.756;ExAC.Info.AC_Het=21046;ExAC.Info.AC_Hom=37331;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser498Ser/c.1494C>T;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=LUZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP1" target="_blank">LUZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302291;SAVANT_GENE=LUZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP1" target="_blank">LUZP1</a>;SAVANT_INFO=-/93.8kb/5/8.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1494C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP1+c.1494C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23419261">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,78:79:99:2718,228,0:127	1|1:0,117:117:99:4190,352,0:127	1|1:0,82:82:99:2903,246,0:127
1	23419374	.	G	T	46135.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=419;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3765407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3765407" target="_blank">rs3765407</a>;ExAC.Info.AC=95263;ExAC.Info.AN=126696;ExAC.Info.AF=0.752;ExAC.Info.AC_Het=21137;ExAC.Info.AC_Hom=36985;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Aag;snpeff.Amino_Acid_Change=p.Gln461Lys/c.1381C>A;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=LUZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP1" target="_blank">LUZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302291;SAVANT_GENE=LUZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP1" target="_blank">LUZP1</a>;SAVANT_INFO=-/93.8kb/5/8.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1381C>A_p.Gln461Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP1+c.1381C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23419374">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,121:121:99:5474,376,0:127	1|1:0,171:171:99:7719,527,0:127	1|1:0,127:127:99:5765,391,0:127
1	23419383	.	C	T	47219.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=441;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs477830;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=477830" target="_blank">rs477830</a>;ExAC.Info.AC=95758;ExAC.Info.AN=126696;ExAC.Info.AF=0.756;ExAC.Info.AC_Het=21013;ExAC.Info.AC_Hom=37296;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly458Ser/c.1372G>A;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=LUZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP1" target="_blank">LUZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302291;SAVANT_GENE=LUZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP1" target="_blank">LUZP1</a>;SAVANT_INFO=-/93.8kb/5/8.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1372G>A_p.Gly458Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP1+c.1372G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23419383">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,127:127:99:5726,394,0:127	1|1:0,181:181:99:7923,547,0:127	1|1:0,133:133:99:5879,403,0:127
1	23419855	.	T	C	27332.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1983965;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1983965" target="_blank">rs1983965</a>;ExAC.Info.AC=97809;ExAC.Info.AN=126700;ExAC.Info.AF=0.772;ExAC.Info.AC_Het=20081;ExAC.Info.AC_Hom=38854;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900T>C;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=LUZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP1" target="_blank">LUZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr300Thr/c.900A>G;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=LUZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP1" target="_blank">LUZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302291;SAVANT_GENE=LUZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP1" target="_blank">LUZP1</a>;SAVANT_INFO=-/93.8kb/5/8.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.900A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP1+c.900A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23419855">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3390,300,0:127	1|1:0,118:118:99:4247,354,0:127	1|1:0,123:123:99:4312,369,0:127
1	23688933	.	A	G	7976.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2849028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2849028" target="_blank">rs2849028</a>;ExAC.Info.AC=82368;ExAC.Info.AN=126704;ExAC.Info.AF=0.650;ExAC.Info.AC_Het=26246;ExAC.Info.AC_Hom=28055;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn314Asn/c.942T>C;snpeff.Amino_Acid_length=470;snpeff.Gene_Name=ZNF436;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF436" target="_blank">ZNF436</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314011;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314011;SAVANT_GENE=ZNF436;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF436" target="_blank">ZNF436</a>;SAVANT_INFO=-/10.0kb/4/4.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.942T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF436+c.942T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23688933">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,289,3278:127	0|1:57,62:119:99:1922,0,1653:127	0|1:35,63:98:99:2086,0,933:127
1	23697617	.	T	C	7860.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs638722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=638722" target="_blank">rs638722</a>;ExAC.Info.AC=25338;ExAC.Info.AN=123538;ExAC.Info.AF=0.205;ExAC.Info.AC_Het=13099;ExAC.Info.AC_Hom=1951;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1446;snpeff.Amino_Acid_Change=c.*1446T>C;snpeff.Amino_Acid_length=126;snpeff.Gene_Name=C1orf213;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf213" target="_blank">C1orf213</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335648;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335648;SAVANT_GENE=C1orf213;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf213" target="_blank">C1orf213</a>;SAVANT_INFO=+/2.5kb/1/2.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1446T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf213+c.*1446T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23697617">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1568,120,0:120	1|0:21,20:41:99:661,0,648:120	1|0:23,20:43:99:612,0,670:120
1	23710805	.	A	G	16977.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs605468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=605468" target="_blank">rs605468</a>;ExAC.Info.AC=112573;ExAC.Info.AN=125280;ExAC.Info.AF=0.899;ExAC.Info.AC_Het=10954;ExAC.Info.AC_Hom=50592;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1038+34T>C;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450454;SAVANT_GENE=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;SAVANT_INFO=-/43.7kb/11/1.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1038+34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCEA3+c.1038+34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23710805">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1938,159,0:127	1|1:0,75:75:99:2680,225,0:127	1|1:0,68:68:99:2514,204,0:127
1	23713952	.	T	G	14218.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs676363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=676363" target="_blank">rs676363</a>;ExAC.Info.AC=100416;ExAC.Info.AN=113762;ExAC.Info.AF=0.883;ExAC.Info.AC_Het=3794;ExAC.Info.AC_Hom=15789;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.820-40A>C;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_central];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820T>G;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_central];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820T>G;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_central];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820T>G;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_central];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820T>G;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450454;SAVANT_GENE=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;SAVANT_INFO=-/43.7kb/11/1.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.820-40A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCEA3+c.820-40A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23713952">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1907,168,0:127	1|1:0,58:58:99:2199,174,0:127	1|1:0,47:47:99:1697,141,0:127
1	23724183	.	C	T	2486.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2275355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275355" target="_blank">rs2275355</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.608-89G>A;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_central];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608C>T;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_central];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608C>T;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_central];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608C>T;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_central];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608C>T;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450454;SAVANT_GENE=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;SAVANT_INFO=-/43.7kb/11/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.608-89G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCEA3+c.608-89G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23724183">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1468:120	0|1:20,24:44:99:668,0,659:120	0|1:26,20:46:99:595,0,799:120
1	23735241	.	G	T	9013.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1198423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1198423" target="_blank">rs1198423</a>;ExAC.Info.AC=107028;ExAC.Info.AN=124060;ExAC.Info.AF=0.863;ExAC.Info.AC_Het=9918;ExAC.Info.AC_Hom=34293;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.381-22C>A;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450454;SAVANT_GENE=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;SAVANT_INFO=-/43.7kb/11/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.381-22C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCEA3+c.381-22C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23735241">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,47:48:99:1508,134,0:89	1|1:0,45:45:99:1458,135,0:89	1|1:0,30:30:90:1145,90,0:89
1	23745563	.	G	C	115.7	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.132+7C>G;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.133G>C;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.133G>C;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.133G>C;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TFIIS_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.133G>C;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.133C>G;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450454;SAVANT_GENE=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;SAVANT_INFO=-/43.7kb/11/1.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.132+7C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCEA3+c.132+7C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23745563">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,3:29:19:0,19,610:16	0|0:28,2:30:55:0,55,737:16	0|1:17,2:19:21:21,0,487:16
1	23751140	.	G	T	4620.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs71514235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71514235" target="_blank">rs71514235</a>;ExAC.Info.AC=76566;ExAC.Info.AN=124612;ExAC.Info.AF=0.614;ExAC.Info.AC_Het=26330;ExAC.Info.AC_Hom=24565;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=14;snpeff.Amino_Acid_Change=c.-14C>A;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450454;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450454;SAVANT_GENE=TCEA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEA3" target="_blank">TCEA3</a>;SAVANT_INFO=-/43.7kb/11/1.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-14C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCEA3+c.-14C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23751140">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,303,3320:127	0|1:53,38:91:99:1135,0,1627:127	0|1:45,46:91:99:1195,0,1280:127
1	23755513	.	T	C	8932.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1198430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1198430" target="_blank">rs1198430</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=836;snpeff.Amino_Acid_Change=c.*836A>G;snpeff.Amino_Acid_length=903;snpeff.Gene_Name=ASAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASAP3" target="_blank">ASAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336689;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336689;SAVANT_GENE=ASAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASAP3" target="_blank">ASAP3</a>;SAVANT_INFO=-/55.6kb/25/4.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*836A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASAP3+c.*836A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23755513">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1398,135,0:92	1|1:0,38:38:99:1265,114,0:92	1|1:0,31:31:93:1095,93,0:92
1	23768196	.	G	A	3008.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72661458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72661458" target="_blank">rs72661458</a>;ExAC.Info.AC=519;ExAC.Info.AN=126704;ExAC.Info.AF=4.096e-03;ExAC.Info.AC_Het=509;ExAC.Info.AC_Hom=5;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala233Ala/c.699C>T;snpeff.Amino_Acid_length=903;snpeff.Gene_Name=ASAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASAP3" target="_blank">ASAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336689;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336689;SAVANT_GENE=ASAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASAP3" target="_blank">ASAP3</a>;SAVANT_INFO=-/55.6kb/25/4.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.699C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASAP3+c.699C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23768196">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,14:24:99:382,0,301:93	1|0:27,24:51:99:694,0,743:93	0|0:31,0:31:93:0,93,1161:93
1	23768790	.	G	T	2473.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72661462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72661462" target="_blank">rs72661462</a>;ExAC.Info.AC=1901;ExAC.Info.AN=126262;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1446;ExAC.Info.AC_Hom=15;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.586-26C>A;snpeff.Amino_Acid_length=903;snpeff.Gene_Name=ASAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASAP3" target="_blank">ASAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336689;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336689;SAVANT_GENE=ASAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASAP3" target="_blank">ASAP3</a>;SAVANT_INFO=-/55.6kb/25/4.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.586-26C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASAP3+c.586-26C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23768790">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,13:24:99:377,0,367:108	0|0:36,0:36:99:0,108,1254:108	1|0:23,19:42:99:569,0,681:108
1	23810658	.	G	A	936.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=54;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs71514236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71514236" target="_blank">rs71514236</a>;ExAC.Info.AC=33958;ExAC.Info.AN=60538;ExAC.Info.AF=0.561;ExAC.Info.AC_Het=582;ExAC.Info.AC_Hom=871;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=32;snpeff.Amino_Acid_Change=c.-32C>T;snpeff.Amino_Acid_length=903;snpeff.Gene_Name=ASAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASAP3" target="_blank">ASAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336689;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336689;SAVANT_GENE=ASAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASAP3" target="_blank">ASAP3</a>;SAVANT_INFO=-/55.6kb/25/4.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-32C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASAP3+c.-32C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23810658">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,652:57	0|1:12,10:22:99:325,0,354:57	0|1:6,7:13:99:163,0,195:57
1	23847464	.	C	A	2056.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2075995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075995" target="_blank">rs2075995</a>;ExAC.Info.AC=57450;ExAC.Info.AN=126702;ExAC.Info.AF=0.453;ExAC.Info.AC_Het=29116;ExAC.Info.AC_Hom=14131;snpeff.Effect=sequence_feature[region_of_interest:Dimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.678C>A;snpeff.Amino_Acid_length=437;snpeff.Gene_Name=E2F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=E2F2" target="_blank">E2F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361729;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Dimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.678C>A;snpeff.Amino_Acid_length=437;snpeff.Gene_Name=E2F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=E2F2" target="_blank">E2F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361729;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Dimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.678C>A;snpeff.Amino_Acid_length=437;snpeff.Gene_Name=E2F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=E2F2" target="_blank">E2F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361729;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caT;snpeff.Amino_Acid_Change=p.Gln226His/c.678G>T;snpeff.Amino_Acid_length=437;snpeff.Gene_Name=E2F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=E2F2" target="_blank">E2F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361729;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361729;SAVANT_GENE=E2F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=E2F2" target="_blank">E2F2</a>;SAVANT_INFO=-/24.8kb/7/5.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.678G>T_p.Gln226His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=E2F2+c.678G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23847464">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1486:125	0|1:33,38:71:99:1047,0,976:125	0|0:46,0:46:99:0,138,1794:125
1	23885498	.	T	C	22449.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11574" target="_blank">rs11574</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Increased_intima-media_thickness|_association;hgmd_2014.2.OMIM_ID=600277;hgmd_2014.2.PubMed=20185798;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20185798" target="_blank">20185798</a>;ExAC.Info.AC=101573;ExAC.Info.AN=126696;ExAC.Info.AF=0.802;ExAC.Info.AC_Het=18797;ExAC.Info.AC_Hom=41324;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr105Ala/c.313A>G;snpeff.Amino_Acid_length=119;snpeff.Gene_Name=ID3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ID3" target="_blank">ID3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374561;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374561;SAVANT_GENE=ID3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ID3" target="_blank">ID3</a>;SAVANT_INFO=-/1.9kb/3/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.313A>G_p.Thr105Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ID3+c.313A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23885498">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3553,320,0:127	1|0:57,58:115:99:1553,0,1605:127	1|1:0,90:90:99:3129,270,0:127
1	23885599	.	T	C	25657.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2067053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2067053" target="_blank">rs2067053</a>;ExAC.Info.AC=47747;ExAC.Info.AN=126694;ExAC.Info.AF=0.377;ExAC.Info.AC_Het=28469;ExAC.Info.AC_Hom=9614;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.300+19A>G;snpeff.Amino_Acid_length=119;snpeff.Gene_Name=ID3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ID3" target="_blank">ID3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374561;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374561;SAVANT_GENE=ID3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ID3" target="_blank">ID3</a>;SAVANT_INFO=-/1.9kb/3/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.300+19A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ID3+c.300+19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23885599">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:4038,336,0:127	1|0:59,56:115:99:1668,0,1609:127	1|1:0,122:122:99:4511,366,0:127
1	23886073	.	T	C	5734.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2742946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2742946" target="_blank">rs2742946</a>;snpeff.Effect=TF_binding_site_variant[MA0079.2:SP1];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=156;snpeff.Amino_Acid_Change=c.-156A>G;snpeff.Amino_Acid_length=119;snpeff.Gene_Name=ID3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ID3" target="_blank">ID3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374561;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374561;SAVANT_GENE=ID3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ID3" target="_blank">ID3</a>;SAVANT_INFO=-/1.9kb/3/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-156A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ID3+c.-156A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:23886073">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1059,96,0:92	1|1:0,32:32:96:916,96,0:92	1|0:28,10:38:99:192,0,886:92
1	24018277	.	C	G	26393.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Diamond-Blackfan_anemia_7|_612562_(3);dbSNP139.ID=rs10917413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10917413" target="_blank">rs10917413</a>;ExAC.Info.AC=126028;ExAC.Info.AN=126704;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=642;ExAC.Info.AC_Hom=62680;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127804;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=37;snpeff.Amino_Acid_Change=c.-37C>G;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=RPL11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL11" target="_blank">RPL11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=RPL11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL11" target="_blank">RPL11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374550;SAVANT_GENE=RPL11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL11" target="_blank">RPL11</a>;SAVANT_INFO=+/4.6kb/6/0.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-37C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPL11+c.-37C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24018277">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127804" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:3251,276,0:127	1|1:0,127:127:99:4367,381,0:127	1|1:0,91:91:99:3250,273,0:127
1	24022437	.	A	G	9532.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=855;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Diamond-Blackfan_anemia_7|_612562_(3);dbSNP139.ID=rs2280437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2280437" target="_blank">rs2280437</a>;ExAC.Info.AC=32245;ExAC.Info.AN=106234;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=7457;ExAC.Info.AC_Hom=2368;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.507+39A>G;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=RPL11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL11" target="_blank">RPL11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374550;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374550;SAVANT_GENE=RPL11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL11" target="_blank">RPL11</a>;SAVANT_INFO=+/4.6kb/6/0.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.507+39A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPL11+c.507+39A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24022437">View</a>	GT:AD:DP:GQ:PL:TP	0|0:303,1:304:99:0,902,9325:127	0|1:126,167:293:99:4785,0,3329:127	0|0:258,0:258:99:0,775,8630:127
1	24077451	.	C	T	10781.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2235541;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2235541" target="_blank">rs2235541</a>;ExAC.Info.AC=11428;ExAC.Info.AN=126698;ExAC.Info.AF=0.090;ExAC.Info.AC_Het=10185;ExAC.Info.AC_Hom=593;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr145Met/c.434C>T;snpeff.Amino_Acid_length=798;snpeff.Gene_Name=TCEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEB3" target="_blank">TCEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418390;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418390;SAVANT_GENE=TCEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEB3" target="_blank">TCEB3</a>;SAVANT_INFO=+/18.9kb/11/5.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.434C>T_p.Thr145Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCEB3+c.434C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24077451">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,48:92:99:1311,0,1242:127	1|1:0,97:97:99:3492,292,0:127	0|0:60,0:60:99:0,180,2177:127
1	24082402	.	G	A	5680.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=734;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs78642828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78642828" target="_blank">rs78642828</a>;ExAC.Info.AC=360;ExAC.Info.AN=126704;ExAC.Info.AF=2.841e-03;ExAC.Info.AC_Het=358;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[region_of_interest:Activation_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1939G>A;snpeff.Amino_Acid_length=798;snpeff.Gene_Name=TCEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEB3" target="_blank">TCEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418390;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Activation_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1939G>A;snpeff.Amino_Acid_length=798;snpeff.Gene_Name=TCEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEB3" target="_blank">TCEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418390;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Activation_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1939G>A;snpeff.Amino_Acid_length=798;snpeff.Gene_Name=TCEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEB3" target="_blank">TCEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418390;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Activation_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1939G>A;snpeff.Amino_Acid_length=798;snpeff.Gene_Name=TCEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEB3" target="_blank">TCEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418390;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Aaa;snpeff.Amino_Acid_Change=p.Glu647Lys/c.1939G>A;snpeff.Amino_Acid_length=798;snpeff.Gene_Name=TCEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEB3" target="_blank">TCEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418390;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418390;SAVANT_GENE=TCEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEB3" target="_blank">TCEB3</a>;SAVANT_INFO=+/18.9kb/11/5.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1939G>A_p.Glu647Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCEB3+c.1939G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24082402">View</a>	GT:AD:DP:GQ:PL:TP	0|0:202,0:202:99:0,607,7112:127	0|0:291,0:291:99:0,873,10131:127	0|1:138,103:241:99:2859,0,4382:127
1	24083649	.	T	C	6947.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2076346;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076346" target="_blank">rs2076346</a>;ExAC.Info.AC=33662;ExAC.Info.AN=125964;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=21361;ExAC.Info.AC_Hom=5032;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2335+34T>C;snpeff.Amino_Acid_length=798;snpeff.Gene_Name=TCEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEB3" target="_blank">TCEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418390;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418390;SAVANT_GENE=TCEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEB3" target="_blank">TCEB3</a>;SAVANT_INFO=+/18.9kb/11/5.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2335+34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCEB3+c.2335+34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24083649">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,28:56:99:775,0,795:127	1|1:0,60:60:99:2270,180,0:127	0|0:52,0:52:99:0,156,1658:127
1	24119627	.	C	T	4609.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2232982;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232982" target="_blank">rs2232982</a>;ExAC.Info.AC=2652;ExAC.Info.AN=126704;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2569;ExAC.Info.AC_Hom=41;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111-14C>T;snpeff.Amino_Acid_length=231;snpeff.Gene_Name=LYPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLA2" target="_blank">LYPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374514;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374514;SAVANT_GENE=LYPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLA2" target="_blank">LYPLA2</a>;SAVANT_INFO=+/4.6kb/10/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.111-14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYPLA2+c.111-14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24119627">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,20:50:99:548,0,831:127	0|0:71,0:71:99:0,214,2562:127	1|0:32,34:66:99:1067,0,942:127
1	24120839	.	C	A	3128.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs115000504;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115000504" target="_blank">rs115000504</a>;ExAC.Info.AC=16;ExAC.Info.AN=126658;ExAC.Info.AF=1.263e-04;ExAC.Info.AC_Het=21;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.471+24C>A;snpeff.Amino_Acid_length=231;snpeff.Gene_Name=LYPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLA2" target="_blank">LYPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374514;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374514;SAVANT_GENE=LYPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLA2" target="_blank">LYPLA2</a>;SAVANT_INFO=+/4.6kb/10/1.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.471+24C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYPLA2+c.471+24C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24120839">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2186:127	0|0:88,0:88:99:0,264,2972:127	0|1:31,57:88:99:1583,0,716:127
1	24122986	.	C	T	5231.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Galactose_epimerase_deficiency|_230350_(3);dbSNP139.ID=rs760941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=760941" target="_blank">rs760941</a>;ExAC.Info.AC=72471;ExAC.Info.AN=125718;ExAC.Info.AF=0.576;ExAC.Info.AC_Het=29170;ExAC.Info.AC_Hom=20840;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000078694;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.873+13G>A;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=GALE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALE" target="_blank">GALE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374497;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374497;SAVANT_GENE=GALE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALE" target="_blank">GALE</a>;SAVANT_INFO=-/4.8kb/12/1.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.873+13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALE+c.873+13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24122986">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000078694" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:888,81,0:64	1|1:0,24:24:72:799,72,0:64	1|1:1,25:26:65:688,65,0:64
1	24133612	.	G	A	15803.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=HMG-CoA_lyase_deficiency|_246450_(3);dbSNP139.ID=rs1018396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1018396" target="_blank">rs1018396</a>;ExAC.Info.AC=68696;ExAC.Info.AN=117410;ExAC.Info.AF=0.585;ExAC.Info.AC_Het=27065;ExAC.Info.AC_Hom=20489;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.750+1013C>T;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=HMGCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCL" target="_blank">HMGCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374490;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374490;SAVANT_GENE=HMGCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCL" target="_blank">HMGCL</a>;SAVANT_INFO=-/23.6kb/9/1.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.750+1013C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMGCL+c.750+1013C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24133612">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1697,159,0:127	1|1:0,73:73:99:2466,219,0:127	1|1:0,64:64:99:2196,192,0:127
1	24134721	.	T	C	54633.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=658;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=HMG-CoA_lyase_deficiency|_246450_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs719400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=719400" target="_blank">rs719400</a>;ExAC.Info.AC=114591;ExAC.Info.AN=126704;ExAC.Info.AF=0.904;ExAC.Info.AC_Het=10672;ExAC.Info.AC_Hom=51925;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000125367|RCV000078343;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.654T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=HMGCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCL" target="_blank">HMGCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374490;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu218Leu/c.654A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=HMGCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCL" target="_blank">HMGCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374490;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374490;SAVANT_GENE=HMGCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCL" target="_blank">HMGCL</a>;SAVANT_INFO=-/23.6kb/9/1.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.654A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMGCL+c.654A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24134721">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000125367%20OR%20RCV000078343" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,218:218:99:7905,658,0:127	1|1:0,211:211:99:7868,634,0:127	1|1:0,229:229:99:8384,688,0:127
1	24143932	.	A	G	35832.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=HMG-CoA_lyase_deficiency|_246450_(3);dbSNP139.ID=rs2076344;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076344" target="_blank">rs2076344</a>;ExAC.Info.AC=114568;ExAC.Info.AN=126664;ExAC.Info.AF=0.905;ExAC.Info.AC_Het=10559;ExAC.Info.AC_Hom=51605;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.252+34T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=HMGCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCL" target="_blank">HMGCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374490;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.253A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=HMGCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCL" target="_blank">HMGCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374490;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.253A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=HMGCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCL" target="_blank">HMGCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374490;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374490;SAVANT_GENE=HMGCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCL" target="_blank">HMGCL</a>;SAVANT_INFO=-/23.6kb/9/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.252+34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMGCL+c.252+34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24143932">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:4534,355,0:127	1|1:0,177:177:99:6562,532,0:127	1|1:0,125:125:99:4998,376,0:127
1	24200903	.	G	C	34915.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2229586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229586" target="_blank">rs2229586</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=122;snpeff.Amino_Acid_Change=c.*122C>G;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*122C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.*122C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24200903">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3956,277,0:127	1|1:0,140:140:99:6287,448,0:127	1|1:0,105:105:99:4590,331,0:127
1	24200921	.	T	C	37269.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2229585;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229585" target="_blank">rs2229585</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=104;snpeff.Amino_Acid_Change=c.*104A>G;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*104A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.*104A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24200921">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:4215,292,0:127	1|1:0,158:158:99:6782,478,0:127	1|1:0,106:106:99:4622,330,0:127
1	24200969	.	T	C	47935.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=454;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2229584;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229584" target="_blank">rs2229584</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=56;snpeff.Amino_Acid_Change=c.*56A>G;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*56A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.*56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24200969">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,135:135:99:6122,412,0:127	1|1:0,196:196:99:8704,596,0:127	1|1:0,123:123:99:5443,376,0:127
1	24200983	.	C	T	51321.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=510;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2229583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229583" target="_blank">rs2229583</a>;ExAC.Info.AC=77883;ExAC.Info.AN=126430;ExAC.Info.AF=0.616;ExAC.Info.AC_Het=27330;ExAC.Info.AC_Hom=23459;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=42;snpeff.Amino_Acid_Change=c.*42G>A;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*42G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.*42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24200983">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:6819,476,0:127	1|1:0,215:215:99:9295,656,0:127	1|1:0,138:138:99:5865,415,0:127
1	24201094	.	G	C	38179.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=482;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2229581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229581" target="_blank">rs2229581</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=78165;ExAC.Info.AN=126702;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=28850;ExAC.Info.AC_Hom=24655;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acG;snpeff.Amino_Acid_Change=p.Thr338Thr/c.1014C>G;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1014C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.1014C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24201094">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,164:164:99:5720,493,0:127	1|1:0,190:190:99:6775,571,0:127	1|1:0,128:128:99:4546,384,0:127
1	24201109	.	C	T	39542.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=505;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2229580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229580" target="_blank">rs2229580</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=78173;ExAC.Info.AN=126702;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=28843;ExAC.Info.AC_Hom=24661;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro333Pro/c.999G>A;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.999G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.999G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24201109">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,173:173:99:6093,520,0:127	1|1:0,187:187:99:6790,562,0:127	1|1:0,145:145:99:5151,436,0:127
1	24201262	.	A	G	46148.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=565;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2502993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2502993" target="_blank">rs2502993</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=78164;ExAC.Info.AN=126704;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=28837;ExAC.Info.AC_Hom=24638;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala282Ala/c.846T>C;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.846T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.846T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24201262">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,183:183:99:6351,550,0:127	1|1:0,217:217:99:7474,651,0:127	1|1:0,165:165:99:5921,496,0:127
1	24201357	.	A	G	25028.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4649124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4649124" target="_blank">rs4649124</a>;ExAC.Info.AC=78091;ExAC.Info.AN=126698;ExAC.Info.AF=0.616;ExAC.Info.AC_Het=28859;ExAC.Info.AC_Hom=24477;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu251Leu/c.751T>C;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.751T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.751T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24201357">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2726,208,0:127	1|1:0,102:102:99:4104,307,0:127	1|1:0,80:80:99:3178,241,0:127
1	24201448	.	C	T	24758.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3003336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3003336" target="_blank">rs3003336</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=78033;ExAC.Info.AN=126680;ExAC.Info.AF=0.616;ExAC.Info.AC_Het=28669;ExAC.Info.AC_Hom=24294;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val220Val/c.660G>A;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.660G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.660G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24201448">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:2908,279,0:127	1|1:0,126:126:99:4199,378,0:127	1|1:0,85:85:99:2842,254,0:127
1	24201643	.	G	A	16457.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2501431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2501431" target="_blank">rs2501431</a>;ExAC.Info.AC=78141;ExAC.Info.AN=126686;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=28761;ExAC.Info.AC_Hom=24583;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly155Gly/c.465C>T;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.465C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.465C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24201643">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2023,189,0:127	1|1:0,72:72:99:2530,217,0:127	1|1:0,60:60:99:2111,180,0:127
1	24201919	.	T	C	28265.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2502992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2502992" target="_blank">rs2502992</a>;cosmic68.Histology_subtype=adenocarcinoma;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln63Gln/c.189A>G;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.189A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.189A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24201919">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:3465,232,0:127	1|1:0,105:105:99:4755,319,0:127	1|1:0,68:68:99:3058,205,0:127
1	24201920	.	T	C	28265.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2501432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2501432" target="_blank">rs2501432</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Eating_disorders|_association_with;hgmd_2014.2.OMIM_ID=605051;hgmd_2014.2.PubMed=19768813;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19768813" target="_blank">19768813</a>;ExAC.Info.AC=77929;ExAC.Info.AN=126638;ExAC.Info.AF=0.615;ExAC.Info.AC_Het=28805;ExAC.Info.AC_Hom=24470;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln63Arg/c.188A>G;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536471;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536471;SAVANT_GENE=CNR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNR2" target="_blank">CNR2</a>;SAVANT_INFO=-/88.5kb/3/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.188A>G_p.Gln63Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNR2+c.188A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24201920">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:3465,232,0:127	1|1:0,104:104:99:4755,319,0:127	1|1:0,67:67:99:3058,205,0:127
1	24294450	.	C	CA	1631.29	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=73;MQ=50.88;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs200961364;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200961364" target="_blank">rs200961364</a>;ExAC.Info.AC=6396;ExAC.Info.AN=22500;ExAC.Info.AF=0.284;ExAC.Info.AC_Het=4456;ExAC.Info.AC_Hom=65;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SRSF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRSF10" target="_blank">SRSF10</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRSF10" target="_blank">SRSF10</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRSF10+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24294450">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,17:31:99:275,0,249:91	0/1:6,12:18:92:225,0,92:91	0/1:10,14:24:99:215,0,144:91
1	24387822	.	T	A	5539.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7553075;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7553075" target="_blank">rs7553075</a>;ExAC.Info.AC=35084;ExAC.Info.AN=125252;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=23493;ExAC.Info.AC_Hom=5514;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3944-23A>T;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.178-2715T>A;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.3935-23A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.3935-23A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24387822">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,37:71:99:980,0,960:127	1|0:36,35:71:99:1002,0,1091:127	0|0:70,0:70:99:0,210,2377:127
1	24388417	.	A	G	2611.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11811060;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11811060" target="_blank">rs11811060</a>;ExAC.Info.AC=28307;ExAC.Info.AN=125312;ExAC.Info.AF=0.226;ExAC.Info.AC_Het=20981;ExAC.Info.AC_Hom=3639;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3943+19T>C;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.178-2120A>G;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.3934+19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.3934+19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24388417">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,12:43:99:322,0,837:80	1|0:17,19:36:99:644,0,511:80	0|0:39,1:40:80:0,80,1329:80
1	24392600	.	G	A	7513.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6682222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6682222" target="_blank">rs6682222</a>;ExAC.Info.AC=21714;ExAC.Info.AN=123398;ExAC.Info.AF=0.176;ExAC.Info.AC_Het=13128;ExAC.Info.AC_Hom=2046;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3433-109C>T;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.404+1837G>A;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.3424-109C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.3424-109C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24392600">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,48:87:99:1329,0,1210:127	1|0:68,63:131:99:1889,0,2140:127	0|0:104,0:104:99:0,312,3740:127
1	24392671	.	T	C	11965.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6699525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6699525" target="_blank">rs6699525</a>;ExAC.Info.AC=9934;ExAC.Info.AN=77080;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=3828;ExAC.Info.AC_Hom=721;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3433-180A>G;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.404+1908T>C;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.3424-180A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.3424-180A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24392671">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,72:128:99:2149,0,1524:127	1|0:85,92:177:99:2837,0,2344:127	0|0:141,0:141:99:0,424,4960:127
1	24393563	.	C	T	7656.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16829071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16829071" target="_blank">rs16829071</a>;ExAC.Info.AC=19363;ExAC.Info.AN=121834;ExAC.Info.AF=0.159;ExAC.Info.AC_Het=9272;ExAC.Info.AC_Hom=1465;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.69+231C>T;snpeff.Gene_Name=RP11-293P20.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.404+2800C>T;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg1127Gln/c.3380G>A;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.3371G>A_p.Arg1124Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.3371G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24393563">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,41:93:99:1105,0,1411:127	1|0:51,58:109:99:1683,0,1411:127	0|0:87,0:87:99:0,261,3012:127
1	24393656	.	G	A	1318.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12026723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12026723" target="_blank">rs12026723</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3359-72C>T;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.69+324G>A;snpeff.Gene_Name=RP11-293P20.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.404+2893G>A;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3356-78C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.3356-78C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24393656">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2239:127	0|0:72,0:72:99:0,216,2680:127	0|1:25,24:49:99:678,0,783:127
1	24394424	.	G	A	6555.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7542151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7542151" target="_blank">rs7542151</a>;ExAC.Info.AC=23566;ExAC.Info.AN=125386;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=17953;ExAC.Info.AC_Hom=2791;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3358+36C>T;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.69+1092G>A;snpeff.Gene_Name=RP11-293P20.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.404+3661G>A;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3355+36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.3355+36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24394424">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,43:93:99:1124,0,1506:127	1|0:55,48:103:99:1394,0,1613:127	0|0:91,0:91:99:0,273,3168:127
1	24394811	.	A	G	4124.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12145360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12145360" target="_blank">rs12145360</a>;ExAC.Info.AC=20372;ExAC.Info.AN=125388;ExAC.Info.AF=0.162;ExAC.Info.AC_Het=16578;ExAC.Info.AC_Hom=1892;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.69+1479A>G;snpeff.Gene_Name=RP11-293P20.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.404+4048A>G;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile1067Thr/c.3200T>C;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.3197T>C_p.Ile1066Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.3197T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24394811">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,35:64:99:885,0,695:127	1|0:34,30:64:99:797,0,817:127	0|0:65,0:65:99:0,195,1993:127
1	24400584	.	G	C	13730.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6660949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6660949" target="_blank">rs6660949</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2971+66C>G;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.69+7252G>C;snpeff.Gene_Name=RP11-293P20.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.404+9821G>C;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2968+66C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.2968+66C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24400584">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1589,135,0:127	1|1:0,61:61:99:2318,183,0:127	1|1:0,45:45:99:1673,135,0:127
1	24400633	.	C	G	18274.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10903083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10903083" target="_blank">rs10903083</a>;ExAC.Info.AC=123918;ExAC.Info.AN=125502;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1466;ExAC.Info.AC_Hom=60878;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2971+17G>C;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.69+7301C>G;snpeff.Gene_Name=RP11-293P20.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.404+9870C>G;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2968+17G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.2968+17G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24400633">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2007,183,0:127	1|1:0,91:91:99:3196,273,0:127	1|1:0,68:68:99:2370,204,0:127
1	24406535	.	G	A	2892.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35446243;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35446243" target="_blank">rs35446243</a>;ExAC.Info.AC=21369;ExAC.Info.AN=125308;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=16797;ExAC.Info.AC_Hom=2269;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.70-1705G>A;snpeff.Gene_Name=RP11-293P20.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.405-6705G>A;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Tca;snpeff.Amino_Acid_Change=p.Pro854Ser/c.2560C>T;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2557C>T_p.Pro853Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.2557C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24406535">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2470:127	0|1:43,51:94:99:1465,0,1228:127	0|0:87,0:87:99:0,261,3018:127
1	24406647	.	G	A	2198.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4649175;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4649175" target="_blank">rs4649175</a>;ExAC.Info.AC=49299;ExAC.Info.AN=125372;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=28934;ExAC.Info.AC_Hom=10105;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.70-1593G>A;snpeff.Gene_Name=RP11-293P20.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.405-6593G>A;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala816Ala/c.2448C>T;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2445C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.2445C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24406647">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,1:83:99:0,217,2883:127	0|0:102,0:102:99:0,306,3548:127	0|1:48,40:88:99:1118,0,1400:127
1	24408015	.	C	G	776.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10903090;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10903090" target="_blank">rs10903090</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2284-69G>C;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.70-225C>G;snpeff.Gene_Name=RP11-293P20.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.405-5225C>G;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2281-69G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.2281-69G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24408015">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1082:96	0|0:57,0:57:99:0,171,1829:96	0|1:17,14:31:99:407,0,498:96
1	24409165	.	C	T	4729.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4320728;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4320728" target="_blank">rs4320728</a>;ExAC.Info.AC=19798;ExAC.Info.AN=125584;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=16189;ExAC.Info.AC_Hom=1767;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.171-600C>T;snpeff.Gene_Name=RP11-293P20.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.405-4075C>T;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu671Glu/c.2013G>A;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2010G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.2010G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24409165">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,25:71:99:687,0,1508:127	1|0:28,40:68:99:1121,0,949:127	0|0:76,0:76:99:0,228,2772:127
1	24409191	.	C	T	2456.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4320729;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4320729" target="_blank">rs4320729</a>;ExAC.Info.AC=45573;ExAC.Info.AN=125428;ExAC.Info.AF=0.363;ExAC.Info.AC_Het=26841;ExAC.Info.AC_Hom=9303;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.171-574C>T;snpeff.Gene_Name=RP11-293P20.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429191;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.405-4049C>T;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly663Arg/c.1987G>A;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P204" target="_blank">RP11-293P204</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1984G>A_p.Gly662Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.1984G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24409191">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2840:127	0|0:73,0:73:99:0,219,2355:127	0|1:43,46:89:99:1247,0,1260:127
1	24413159	.	T	C	2528.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6424152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6424152" target="_blank">rs6424152</a>;ExAC.Info.AC=50302;ExAC.Info.AN=125254;ExAC.Info.AF=0.402;ExAC.Info.AC_Het=29212;ExAC.Info.AC_Hom=10507;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.405-81T>C;snpeff.Gene_Name=RP11-293P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P202" target="_blank">RP11-293P202</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu592Glu/c.1776A>G;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-293P202" target="_blank">RP11-293P202</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1773A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.1773A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24413159">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,252,2760:127	0|0:109,0:109:99:0,327,3632:127	0|1:39,40:79:99:1283,0,1111:127
1	24416059	.	T	C	10680.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4393101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4393101" target="_blank">rs4393101</a>;ExAC.Info.AC=123484;ExAC.Info.AN=124376;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=549;ExAC.Info.AC_Hom=48372;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp529Gly/c.1586A>G;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1583A>G_p.Asp528Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.1583A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24416059">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1147,93,0:80	1|1:0,50:50:99:1995,150,0:80	1|1:0,27:27:81:1069,81,0:80
1	24416070	.	G	C	3292.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7533060;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7533060" target="_blank">rs7533060</a>;ExAC.Info.AC=57686;ExAC.Info.AN=124420;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=22570;ExAC.Info.AC_Hom=10475;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro525Pro/c.1575C>G;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1572C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.1572C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24416070">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,1:34:92:0,92,1277:91	0|1:25,29:54:99:925,0,865:91	0|1:12,23:35:99:741,0,344:91
1	24416133	.	C	T	6406.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4276859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4276859" target="_blank">rs4276859</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15207;ExAC.Info.AN=124090;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=9346;ExAC.Info.AC_Hom=807;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro504Pro/c.1512G>A;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1509G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.1509G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24416133">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,31:68:99:774,0,1106:127	1|0:40,48:88:99:1324,0,1147:127	0|0:73,0:73:99:0,219,2575:127
1	24416628	.	T	C	5087.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72648548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72648548" target="_blank">rs72648548</a>;ExAC.Info.AC=9148;ExAC.Info.AN=125464;ExAC.Info.AF=0.073;ExAC.Info.AC_Het=8106;ExAC.Info.AC_Hom=509;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1436-20A>G;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1433-20A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.1433-20A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24416628">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,39:71:99:1045,0,803:127	0|0:131,0:131:99:0,393,4270:127	1|0:59,25:84:99:595,0,1803:127
1	24417415	.	T	C	2868.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=372;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6700245;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6700245" target="_blank">rs6700245</a>;ExAC.Info.AC=20420;ExAC.Info.AN=125462;ExAC.Info.AF=0.163;ExAC.Info.AC_Het=16195;ExAC.Info.AC_Hom=2097;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln436Arg/c.1307A>G;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1304A>G_p.Gln435Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.1304A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24417415">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,324,3488:127	0|0:142,0:142:99:0,427,5029:127	0|1:64,58:122:99:1453,0,1897:127
1	24434595	.	T	C	20367.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11249170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11249170" target="_blank">rs11249170</a>;ExAC.Info.AC=78235;ExAC.Info.AN=125180;ExAC.Info.AF=0.625;ExAC.Info.AC_Het=27847;ExAC.Info.AC_Hom=23978;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.162-29A>G;snpeff.Amino_Acid_length=1440;snpeff.Gene_Name=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330966;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374434;SAVANT_GENE=MYOM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM3" target="_blank">MYOM3</a>;SAVANT_INFO=-/56.1kb/37/5.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.162-32A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOM3+c.162-32A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24434595">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2277,186,0:127	1|1:0,75:75:99:2690,225,0:127	1|1:0,63:63:99:2354,189,0:127
1	24447468	.	G	C	2720.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795299;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795299" target="_blank">rs3795299</a>;ExAC.Info.AC=52752;ExAC.Info.AN=126704;ExAC.Info.AF=0.416;ExAC.Info.AC_Het=29415;ExAC.Info.AC_Hom=11648;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1552G>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1552G>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Ggt;snpeff.Amino_Acid_Change=p.Arg518Gly/c.1552C>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270800;SAVANT_GENE=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;SAVANT_INFO=-/23.4kb/7/2.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1552C>G_p.Arg518Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL22RA1+c.1552C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24447468">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,183,2139:116	0|1:38,47:85:99:1379,0,1117:116	0|0:39,0:39:99:0,117,1504:116
1	24447943	.	G	A	5815.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs34967816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34967816" target="_blank">rs34967816</a>;ExAC.Info.AC=12171;ExAC.Info.AN=125660;ExAC.Info.AF=0.097;ExAC.Info.AC_Het=9773;ExAC.Info.AC_Hom=740;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1077G>A;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1077G>A;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val359Val/c.1077C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270800;SAVANT_GENE=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;SAVANT_INFO=-/23.4kb/7/2.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1077C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL22RA1+c.1077C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24447943">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,38:74:99:1189,0,1062:127	0|0:71,0:71:99:0,214,2699:127	1|0:34,25:59:99:777,0,1106:127
1	24454688	.	C	T	5135.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16829204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16829204" target="_blank">rs16829204</a>;ExAC.Info.AC=20225;ExAC.Info.AN=126696;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=16227;ExAC.Info.AC_Hom=1895;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val205Ile/c.613G>A;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270800;SAVANT_GENE=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;SAVANT_INFO=-/23.4kb/7/2.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.613G>A_p.Val205Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL22RA1+c.613G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24454688">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,35:78:99:928,0,1230:127	0|0:76,0:76:99:0,228,2532:127	1|0:38,23:61:99:593,0,1179:127
1	24460797	.	T	G	13934.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs17852649;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17852649" target="_blank">rs17852649</a>;ExAC.Info.AC=72136;ExAC.Info.AN=126690;ExAC.Info.AF=0.569;ExAC.Info.AC_Het=29447;ExAC.Info.AC_Hom=21250;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro145Pro/c.435A>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270800;SAVANT_GENE=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;SAVANT_INFO=-/23.4kb/7/2.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.435A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL22RA1+c.435A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24460797">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2129,177,0:127	1|0:39,37:76:99:1176,0,1027:127	1|1:0,59:59:99:2288,177,0:127
1	24463854	.	C	T	3214.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41268137;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41268137" target="_blank">rs41268137</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.177-55G>A;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270800;SAVANT_GENE=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;SAVANT_INFO=-/23.4kb/7/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.177-55G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL22RA1+c.177-55G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24463854">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,18:46:99:497,0,804:127	0|0:63,0:63:99:0,189,2167:127	1|0:23,36:59:99:951,0,639:127
1	24465113	.	C	T	4122.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10903022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10903022" target="_blank">rs10903022</a>;ExAC.Info.AC=53394;ExAC.Info.AN=126704;ExAC.Info.AF=0.421;ExAC.Info.AC_Het=28946;ExAC.Info.AC_Hom=12187;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro45Pro/c.135G>A;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270800;SAVANT_GENE=IL22RA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL22RA1" target="_blank">IL22RA1</a>;SAVANT_INFO=-/23.4kb/7/2.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.135G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL22RA1+c.135G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24465113">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,360,3893:127	0|1:71,71:142:99:2080,0,2049:127	0|0:128,0:128:99:0,385,4276:127
1	24484108	.	G	A	4057.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72648587;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72648587" target="_blank">rs72648587</a>;ExAC.Info.AC=8205;ExAC.Info.AN=126680;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=7441;ExAC.Info.AC_Hom=333;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075G>A;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1075G>A;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Tac;snpeff.Amino_Acid_Change=p.His359Tyr/c.1075C>T;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327535;SAVANT_GENE=IL28RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL28RA" target="_blank">IL28RA</a>;SAVANT_INFO=-/33.1kb/7/4.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1075C>T_p.His359Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL28RA+c.1075C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24484108">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,24:56:99:635,0,1006:127	0|0:78,0:78:99:0,235,3035:127	1|0:28,29:57:99:886,0,905:127
1	24484441	.	A	G	9062.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs946671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=946671" target="_blank">rs946671</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.802-60T>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802A>G;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802A>G;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327535;SAVANT_GENE=IL28RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL28RA" target="_blank">IL28RA</a>;SAVANT_INFO=-/33.1kb/7/4.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.802-60T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL28RA+c.802-60T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24484441">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1348,111,0:101	1|1:0,34:34:99:1237,102,0:101	1|1:0,37:37:99:1268,111,0:101
1	24485941	.	T	C	5986.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4649195;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4649195" target="_blank">rs4649195</a>;ExAC.Info.AC=83515;ExAC.Info.AN=126694;ExAC.Info.AF=0.659;ExAC.Info.AC_Het=27668;ExAC.Info.AC_Hom=27829;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.670+23A>G;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671T>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671T>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671T>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671T>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671T>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327535;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327535;SAVANT_GENE=IL28RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL28RA" target="_blank">IL28RA</a>;SAVANT_INFO=-/33.1kb/7/4.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.670+23A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL28RA+c.670+23A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24485941">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,24:42:99:814,0,559:127	0/1:34,35:69:99:1089,0,1016:127	0/1:18,19:37:99:588,0,480:127
1	24513768	.	G	A	1757.95	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=24;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4090311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4090311" target="_blank">rs4090311</a>;ExAC.Info.AC=24978;ExAC.Info.AN=32552;ExAC.Info.AF=0.767;ExAC.Info.AC_Het=44;ExAC.Info.AC_Hom=141;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=IFNLR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFNLR1" target="_blank">IFNLR1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFNLR1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24513768">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,8:8:24:243,24,0:20	1|1:0,8:8:23:217,23,0:20	1|1:0,8:8:23:199,23,0:20
1	24658063	.	C	G	3483.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2486668;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2486668" target="_blank">rs2486668</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=20222;ExAC.Info.AN=126702;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=16887;ExAC.Info.AC_Hom=1664;snpeff.Effect=sequence_feature[region_of_interest:Transcription_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165C>G;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=GRHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHL3" target="_blank">GRHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000350501;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Transcription_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165C>G;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=GRHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHL3" target="_blank">GRHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000350501;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaG;snpeff.Amino_Acid_Change=p.Asp55Glu/c.165C>G;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=GRHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHL3" target="_blank">GRHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000350501;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350501;SAVANT_GENE=GRHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHL3" target="_blank">GRHL3</a>;SAVANT_INFO=+/45.1kb/16/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.165C>G_p.Asp55Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRHL3+c.165C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24658063">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,20:39:99:577,0,550:127	1|0:28,26:54:99:856,0,961:127	0|0:58,0:58:99:0,174,2221:127
1	24668667	.	C	G	5941.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11576645;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11576645" target="_blank">rs11576645</a>;ExAC.Info.AC=24881;ExAC.Info.AN=126700;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=19587;ExAC.Info.AC_Hom=2625;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtG;snpeff.Amino_Acid_Change=p.Val370Val/c.1110C>G;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=GRHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHL3" target="_blank">GRHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000350501;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350501;SAVANT_GENE=GRHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHL3" target="_blank">GRHL3</a>;SAVANT_INFO=+/45.1kb/16/2.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1110C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRHL3+c.1110C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24668667">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,47:85:99:1232,0,975:127	1|0:34,35:69:99:1053,0,1022:127	0|0:51,0:51:99:0,153,1866:127
1	24673866	.	A	G	6104.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6691722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6691722" target="_blank">rs6691722</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1544-92A>G;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=GRHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHL3" target="_blank">GRHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000350501;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350501;SAVANT_GENE=GRHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHL3" target="_blank">GRHL3</a>;SAVANT_INFO=+/45.1kb/16/2.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1544-92A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRHL3+c.1544-92A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24673866">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,15:48:99:359,0,1072:127	0/1:45,28:73:99:766,0,1344:127	0/1:40,31:71:99:874,0,1223:127
1	24680915	.	C	T	7195.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12030057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12030057" target="_blank">rs12030057</a>;ExAC.Info.AC=36548;ExAC.Info.AN=126704;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=25224;ExAC.Info.AC_Hom=5627;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1694+4303C>T;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=GRHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHL3" target="_blank">GRHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000350501;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350501;SAVANT_GENE=GRHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHL3" target="_blank">GRHL3</a>;SAVANT_INFO=+/45.1kb/16/2.1kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1694+4303C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRHL3+c.1694+4303C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24680915">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,22:63:99:609,0,1218:127	0/1:41,44:85:99:1188,0,1101:127	0/1:33,30:63:99:852,0,945:127
1	24690764	.	T	A	9568.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs545809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=545809" target="_blank">rs545809</a>;ExAC.Info.AC=6246;ExAC.Info.AN=23242;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=3774;ExAC.Info.AC_Hom=942;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.738-3233A>T;snpeff.Amino_Acid_length=334;snpeff.Gene_Name=STPG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STPG1" target="_blank">STPG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374409;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aAg;snpeff.Amino_Acid_Change=p.Met595Lys/c.1784T>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=GRHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STPG1" target="_blank">STPG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000350501;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350501:ENST00000374409;SAVANT_GENE=GRHL3:C1orf201;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRHL3:C1orf201" target="_blank">GRHL3:C1orf201</a>;SAVANT_INFO=+/45.1kb/16/2.1kb:-/58.1kb/9/2.8kb;SAVANT_LOC=Ex16:In7/8;SAVANT_HGVS=c.1784T>A_p.Met595Lys:c.738-3233A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRHL3:C1orf201+c.1784T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24690764">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,37:76:99:1098,0,1143:127	0|0:88,0:88:99:0,265,3110:127	1|1:0,77:77:99:2853,232,0:127
1	24706329	.	C	A	6021.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41307808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41307808" target="_blank">rs41307808</a>;ExAC.Info.AC=7605;ExAC.Info.AN=126674;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=6926;ExAC.Info.AC_Hom=325;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.292-16G>T;snpeff.Amino_Acid_length=334;snpeff.Gene_Name=STPG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STPG1" target="_blank">STPG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374409;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374409;SAVANT_GENE=C1orf201;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf201" target="_blank">C1orf201</a>;SAVANT_INFO=-/58.1kb/9/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.292-16G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf201+c.292-16G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24706329">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,40:81:99:1058,0,1198:127	0|0:92,0:92:99:0,276,3340:127	1|0:65,56:121:99:1578,0,1975:127
1	24718079	.	C	A	2900.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=402;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs560219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=560219" target="_blank">rs560219</a>;ExAC.Info.AC=4644;ExAC.Info.AN=22156;ExAC.Info.AF=0.210;ExAC.Info.AC_Het=3247;ExAC.Info.AC_Hom=508;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aTt;snpeff.Amino_Acid_Change=p.Ser54Ile/c.161G>T;snpeff.Amino_Acid_length=334;snpeff.Gene_Name=STPG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STPG1" target="_blank">STPG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374409;SAVANT_GENE=C1orf201;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf201" target="_blank">C1orf201</a>;SAVANT_INFO=-/58.1kb/9/2.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.161G>T_p.Ser54Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf201+c.161G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24718079">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,399,4645:127	0|0:172,0:172:99:0,516,5733:127	0|1:46,51:97:99:1469,0,1389:127
1	24768616	.	G	A	3872.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72652567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72652567" target="_blank">rs72652567</a>;ExAC.Info.AC=2;ExAC.Info.AN=126704;ExAC.Info.AF=1.578e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.234G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374399;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu78Leu/c.234G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374399;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374399;SAVANT_GENE=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;SAVANT_INFO=+/53.5kb/12/1.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.234G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NIPAL3+c.234G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24768616">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,28:61:99:773,0,1014:127	1|0:26,26:52:99:823,0,856:127	0|0:52,0:52:99:0,156,1745:127
1	24780521	.	CT	C	1001.36	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=85;MQ=70.06;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs67528293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67528293" target="_blank">rs67528293</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.637+528delT;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374399;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.638delT;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374399;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.638delT;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374399;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000374399;SAVANT_GENE=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;SAVANT_INFO=+/53.5kb/12/1.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.637+542delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NIPAL3+c.637+542delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24780521">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,8:24:99:119,0,314:19	0/1:24,4:28:19:19,0,468:19	0/1:11,22:33:99:423,0,154:19
1	24784197	.	T	C	318.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs195718;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=195718" target="_blank">rs195718</a>;ExAC.Info.AC=62501;ExAC.Info.AN=119508;ExAC.Info.AF=0.523;ExAC.Info.AC_Het=26696;ExAC.Info.AC_Hom=15864;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.774-1181T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374399;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374399;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374399;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374399;SAVANT_GENE=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;SAVANT_INFO=+/53.5kb/12/1.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.774-1181T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NIPAL3+c.774-1181T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24784197">View</a>	GT:AD:DP:GQ:PL:TP	0|0:23,0:23:69:0,69,847:69	0|0:53,0:53:99:0,159,2018:69	0|1:15,6:21:99:178,0,530:69
1	24792617	.	T	A	4494.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=606;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs195725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=195725" target="_blank">rs195725</a>;ExAC.Info.AC=69951;ExAC.Info.AN=117522;ExAC.Info.AF=0.595;ExAC.Info.AC_Het=19961;ExAC.Info.AC_Hom=16109;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1021+2007T>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374399;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374399;SAVANT_GENE=NIPAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPAL3" target="_blank">NIPAL3</a>;SAVANT_INFO=+/53.5kb/12/1.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1021+2007T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NIPAL3+c.1021+2007T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24792617">View</a>	GT:AD:DP:GQ:PL:TP	0|0:176,1:177:99:0,497,5415:127	0|0:239,0:239:99:0,717,7840:127	0|1:104,86:190:99:2266,0,2859:127
1	24927561	.	T	C	7109.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4553122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4553122" target="_blank">rs4553122</a>;ExAC.Info.AC=71035;ExAC.Info.AN=126700;ExAC.Info.AF=0.561;ExAC.Info.AC_Het=30951;ExAC.Info.AC_Hom=19938;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.167+46T>C;snpeff.Amino_Acid_length=102;snpeff.Gene_Name=NCMAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCMAP" target="_blank">NCMAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374392;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168T>C;snpeff.Amino_Acid_length=102;snpeff.Gene_Name=NCMAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCMAP" target="_blank">NCMAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168T>C;snpeff.Amino_Acid_length=102;snpeff.Gene_Name=NCMAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCMAP" target="_blank">NCMAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374392;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374392;SAVANT_GENE=C1orf130;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf130" target="_blank">C1orf130</a>;SAVANT_INFO=+/53.2kb/4/4.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.167+46T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf130+c.167+46T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24927561">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1251,114,0:112	1|0:17,17:34:99:496,0,530:112	1|1:0,39:39:99:1352,117,0:112
1	24987792	.	A	G	2464.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41300132;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41300132" target="_blank">rs41300132</a>;ExAC.Info.AC=447;ExAC.Info.AN=126704;ExAC.Info.AF=3.528e-03;ExAC.Info.AC_Het=441;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1391-9A>G;snpeff.Amino_Acid_length=916;snpeff.Gene_Name=SRRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRRM1" target="_blank">SRRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447431;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323848;SAVANT_GENE=SRRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRRM1" target="_blank">SRRM1</a>;SAVANT_INFO=+/30.2kb/17/3.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1397-9A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRRM1+c.1397-9A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24987792">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,316,3918:127	0|0:125,0:125:99:0,376,4506:127	0|1:55,45:100:99:1251,0,1662:127
1	24989762	.	G	T	18601.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4649011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4649011" target="_blank">rs4649011</a>;ExAC.Info.AC=21617;ExAC.Info.AN=22000;ExAC.Info.AF=0.983;ExAC.Info.AC_Het=248;ExAC.Info.AC_Hom=8901;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1664+47G>T;snpeff.Amino_Acid_length=916;snpeff.Gene_Name=SRRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRRM1" target="_blank">SRRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447431;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323848;SAVANT_GENE=SRRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRRM1" target="_blank">SRRM1</a>;SAVANT_INFO=+/30.2kb/17/3.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1628+467G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRRM1+c.1628+467G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:24989762">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2496,225,0:127	1|1:0,90:90:99:3034,270,0:127	1|1:0,76:76:99:2606,228,0:127
1	25098335	.	CA	C	4007.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs77984282;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77984282" target="_blank">rs77984282</a>;ExAC.Info.AC=3041;ExAC.Info.AN=116802;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=2912;ExAC.Info.AC_Hom=57;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73-25897delA;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=CLIC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLIC4" target="_blank">CLIC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374379;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000374379;SAVANT_GENE=CLIC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLIC4" target="_blank">CLIC4</a>;SAVANT_INFO=+/99.0kb/6/4.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73-25896delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLIC4+c.73-25896delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25098335">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,415,7147:127	0|0:156,0:156:99:0,469,5820:127	0|1:73,66:139:99:2027,0,4632:127
1	25098341	.	C	T	22920.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7548438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7548438" target="_blank">rs7548438</a>;ExAC.Info.AC=74556;ExAC.Info.AN=116366;ExAC.Info.AF=0.641;ExAC.Info.AC_Het=25171;ExAC.Info.AC_Hom=24469;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73-25892C>T;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=CLIC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLIC4" target="_blank">CLIC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374379;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374379;SAVANT_GENE=CLIC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLIC4" target="_blank">CLIC4</a>;SAVANT_INFO=+/99.0kb/6/4.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73-25892C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLIC4+c.73-25892C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25098341">View</a>	GT:AD:DP:GQ:PL:TP	0|1:69,71:140:99:1920,0,2073:127	1|1:0,158:158:99:5606,475,0:127	0|1:77,77:154:99:2913,0,2213:127
1	25153692	.	G	A	18662.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4649022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4649022" target="_blank">rs4649022</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.415+85G>A;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=CLIC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLIC4" target="_blank">CLIC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374379;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374379;SAVANT_GENE=CLIC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLIC4" target="_blank">CLIC4</a>;SAVANT_INFO=+/99.0kb/6/4.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.415+85G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLIC4+c.415+85G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25153692">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2265,207,0:127	1|1:0,86:86:99:2934,258,0:127	1|1:0,92:92:99:2983,276,0:127
1	25291010	.	A	T	1080.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6672420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6672420" target="_blank">rs6672420</a>;ExAC.Info.AC=68566;ExAC.Info.AN=126406;ExAC.Info.AF=0.542;ExAC.Info.AC_Het=27728;ExAC.Info.AC_Hom=18208;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aAc;snpeff.Amino_Acid_Change=p.Ile18Asn/c.53T>A;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=RUNX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUNX3" target="_blank">RUNX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338888;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399916;SAVANT_GENE=RUNX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUNX3" target="_blank">RUNX3</a>;SAVANT_INFO=-/65.5kb/6/4.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.53T>A_p.Ile18Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RUNX3+c.53T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25291010">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1866:127	0|0:72,0:72:99:0,216,2503:127	0|1:50,23:73:99:559,0,1541:127
1	25554719	.	G	A	6578.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35324907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35324907" target="_blank">rs35324907</a>;ExAC.Info.AC=3005;ExAC.Info.AN=126698;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=2839;ExAC.Info.AC_Hom=70;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266G>A;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=SYF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYF2" target="_blank">SYF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266G>A;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=SYF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYF2" target="_blank">SYF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236273;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala89Val/c.266C>T;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=SYF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYF2" target="_blank">SYF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236273;SAVANT_GENE=SYF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYF2" target="_blank">SYF2</a>;SAVANT_INFO=-/9.8kb/7/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.266C>T_p.Ala89Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYF2+c.266C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25554719">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,53:88:99:1404,0,976:127	1|0:60,51:111:99:1418,0,1624:127	0|0:84,0:84:99:0,252,2807:127
1	25570081	.	T	C	5166.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=549;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1043879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1043879" target="_blank">rs1043879</a>;ExAC.Info.AC=25373;ExAC.Info.AN=126700;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=18987;ExAC.Info.AC_Hom=3188;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu240Gly/c.719A>G;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=C1orf63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf63" target="_blank">C1orf63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417642;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000243189;SAVANT_GENE=C1orf63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf63" target="_blank">C1orf63</a>;SAVANT_INFO=-/5.2kb/5/1.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.716A>G_p.Glu239Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf63+c.716A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25570081">View</a>	GT:AD:DP:GQ:PL:TP	0|0:154,0:154:99:0,463,4840:127	0|1:121,103:224:99:2602,0,3176:127	0|0:171,0:171:99:0,514,5508:127
1	25611035	.	G	C	19154.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=226;MQ=65.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=[Rh-negative_blood_type]_(3);dbSNP139.ID=rs2301153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2301153" target="_blank">rs2301153</a>;ExAC.Info.AC=81474;ExAC.Info.AN=114382;ExAC.Info.AF=0.712;ExAC.Info.AC_Het=11867;ExAC.Info.AC_Hom=34291;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf63" target="_blank">C1orf63</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.149-29G>C;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=RHD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf63" target="_blank">C1orf63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342055;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149G>C;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=RHD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf63" target="_blank">C1orf63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342055;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149G>C;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=RHD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf63" target="_blank">C1orf63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342055;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328664;SAVANT_GENE=RHD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHD" target="_blank">RHD</a>;SAVANT_INFO=+/58.0kb/10/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.149-29G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHD+c.149-29G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25611035">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1685,144,0:127	1|1:0,63:63:99:2294,189,0:127	1|1:0,115:115:99:4116,345,0:127
1	25634143	.	T	C	2896.73	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=57;MQ=59.92;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Rh-negative_blood_type]_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2427766;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2427766" target="_blank">rs2427766</a>;ExAC.Info.AC=3343;ExAC.Info.AN=18286;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=1450;ExAC.Info.AC_Hom=846;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf63" target="_blank">C1orf63</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTc/cCc;snpeff.Amino_Acid_Change=p.Leu360Pro/c.1079T>C;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=RHD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf63" target="_blank">C1orf63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342055;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328664;SAVANT_GENE=RHD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHD" target="_blank">RHD</a>;SAVANT_INFO=+/58.0kb/10/2.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1073+923T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHD+c.1073+923T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25634143">View</a>	GT:AD:DP:GQ:PL:TP	1|0:1,12:13:2:424,0,2:60	0|0:21,0:21:63:0,63,741:60	1|1:0,23:23:69:842,69,0:60
1	25678238	.	T	A	15898.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=[Blood_group|_Rhesus]|_111690_(3)|_Rh-null_disease|_amorph_type_(3)|[Blood_group|_Rhesus]|_111690_(3)|_Rh-null_disease|_amorph_type_(3);dbSNP139.ID=rs3093616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3093616" target="_blank">rs3093616</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.274+54T>A;snpeff.Amino_Acid_length=157;snpeff.Gene_Name=TMEM50A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM50A" target="_blank">TMEM50A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374358;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374358;SAVANT_GENE=TMEM50A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM50A" target="_blank">TMEM50A</a>;SAVANT_INFO=+/24.4kb/7/2.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.274+54T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM50A+c.274+54T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25678238">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2522,217,0:127	1|1:0,85:85:99:3106,256,0:127	1|1:0,51:51:99:1963,153,0:127
1	25747230	.	G	C	475.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=180;MQ=57.09;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=[Blood_group|_Rhesus]|_111690_(3)|_Rh-null_disease|_amorph_type_(3)|[Blood_group|_Rhesus]|_111690_(3)|_Rh-null_disease|_amorph_type_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs586178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=586178" target="_blank">rs586178</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Rhesus_blood_group_variant;hgmd_2014.2.OMIM_ID=111700;hgmd_2014.2.PubMed=11380456;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11380456" target="_blank">11380456</a>;ExAC.Info.AC=51229;ExAC.Info.AN=126140;ExAC.Info.AF=0.406;ExAC.Info.AC_Het=23235;ExAC.Info.AC_Hom=10524;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tgC/tgG;snpeff.Amino_Acid_Change=p.Cys16Trp/c.48C>G;snpeff.Amino_Acid_length=417;snpeff.Gene_Name=RHCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHCE" target="_blank">RHCE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294413;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294413;SAVANT_GENE=RHCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHCE" target="_blank">RHCE</a>;SAVANT_INFO=-/58.5kb/10/1.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.48C>G_p.Cys16Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHCE+c.48C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25747230">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,8:40:99:176,0,1061:127	1|0:45,8:53:99:99,0,1544:127	0|0:87,0:87:99:0,261,3088:127
1	25889632	.	T	C	1012.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_autosomal_recessive|_603813_(3);ExperienceDB.ASSAY=NGS-03_CT-FH-HHT-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=T_allele_4013/8596_(46|68%)_Eur_Am|_1519/4406_(34|48%)_Af_Am_alleles|_EVS_data_accessed_through_Alamut_2-26-14;ExperienceDB.Submitter=Kotzer;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6687605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6687605" target="_blank">rs6687605</a>;ExAC.Info.AC=63291;ExAC.Info.AN=126688;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=30769;ExAC.Info.AC_Hom=16105;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Ccc;snpeff.Amino_Acid_Change=p.Ser202Pro/c.604T>C;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=LDLRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAP1" target="_blank">LDLRAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374338;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374338;SAVANT_GENE=LDLRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAP1" target="_blank">LDLRAP1</a>;SAVANT_INFO=+/25.3kb/9/2.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.604T>C_p.Ser202Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDLRAP1+c.604T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25889632">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1413:125	0|0:60,0:60:99:0,180,1999:125	0|1:29,19:48:99:525,0,728:125
1	25890189	.	A	G	3256.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_autosomal_recessive|_603813_(3);ExperienceDB.ASSAY=NGS-03_CT-FH-HHT-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=A_allele_3826/8600_(44|49%)_Eur_Am|_958/4406_(21|74%)_Af_Am_alleles|_EVS_data_accessed_from_Alamut_1-31-14|;ExperienceDB.Submitter=Kotzer;dbSNP139.ID=rs28969504;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28969504" target="_blank">rs28969504</a>;ExAC.Info.AC=69641;ExAC.Info.AN=126698;ExAC.Info.AF=0.550;ExAC.Info.AC_Het=30074;ExAC.Info.AC_Hom=19599;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr218Thr/c.654A>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=LDLRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAP1" target="_blank">LDLRAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374338;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374338;SAVANT_GENE=LDLRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAP1" target="_blank">LDLRAP1</a>;SAVANT_INFO=+/25.3kb/9/2.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.654A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDLRAP1+c.654A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25890189">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,3658:127	0|0:153,0:153:99:0,459,5486:127	0|1:53,62:115:99:1647,0,1426:127
1	25890247	.	C	T	2376.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_autosomal_recessive|_603813_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41291058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41291058" target="_blank">rs41291058</a>;cosmic68.Histology_subtype=plasma_cell_myeloma;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Hypercholesterolaemia|_autosomal_recessive;hgmd_2014.2.OMIM_ID=605747;hgmd_2014.2.PubMed=12464675;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12464675" target="_blank">12464675</a>;ExAC.Info.AC=4502;ExAC.Info.AN=126688;ExAC.Info.AF=0.036;ExAC.Info.AC_Het=4243;ExAC.Info.AC_Hom=114;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg238Trp/c.712C>T;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=LDLRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAP1" target="_blank">LDLRAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374338;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374338;SAVANT_GENE=LDLRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAP1" target="_blank">LDLRAP1</a>;SAVANT_INFO=+/25.3kb/9/2.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.712C>T_p.Arg238Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDLRAP1+c.712C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:25890247">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,318,3485:127	0|0:147,0:147:99:0,441,4789:127	0|1:54,44:98:99:1207,0,1569:127
1	26089977	.	CAAA	C	227.6	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=29;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs72199363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72199363" target="_blank">rs72199363</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048-387_1048-385delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1050delAAA;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000374332;SAVANT_GENE=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;SAVANT_INFO=+/168.7kb/12/4.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1048-368_1048-366delAAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAN1C1+c.1048-368_1048-366delAAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26089977">View</a>	GT:AD:DP:GQ:PL:TP	0|0:3,0:3:11:0,11,56:11	0|1:15,2:17:26:26,0,370:11	0|1:6,3:9:94:94,0,118:11
1	26090072	.	A	G	21763.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs807270;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=807270" target="_blank">rs807270</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048-293A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048A>G;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374332;SAVANT_GENE=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;SAVANT_INFO=+/168.7kb/12/4.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1048-293A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAN1C1+c.1048-293A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26090072">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2535,231,0:127	1|1:0,100:100:99:3308,300,0:127	1|1:0,83:83:99:2899,249,0:127
1	26107688	.	C	A	22036.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs807273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=807273" target="_blank">rs807273</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1650+85C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374332;SAVANT_GENE=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;SAVANT_INFO=+/168.7kb/12/4.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1650+85C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAN1C1+c.1650+85C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26107688">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2277,197,0:127	1|1:0,97:97:99:3514,292,0:127	1|1:0,73:73:99:2374,218,0:127
1	26110143	.	G	A	27418.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3767877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3767877" target="_blank">rs3767877</a>;ExAC.Info.AC=80237;ExAC.Info.AN=126704;ExAC.Info.AF=0.633;ExAC.Info.AC_Het=29056;ExAC.Info.AC_Hom=25562;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1767-11G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1767G>A;snpeff.Amino_Acid_length=630;snpeff.Gene_Name=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374332;SAVANT_GENE=MAN1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1C1" target="_blank">MAN1C1</a>;SAVANT_INFO=+/168.7kb/12/4.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1767-11G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAN1C1+c.1767-11G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26110143">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3608,324,0:127	1|1:0,148:148:99:5092,445,0:127	1|0:48,63:111:99:1788,0,1236:127
1	26128484	.	CT	C	1143.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Muscular_dystrophy|_rigid_spine|_1|_602771_(3)|_Myopathy|_congenital|_with_fiber-type_disproportion|_255310_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.302-22delT;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPN1" target="_blank">SEPN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361547;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;TYPE=Deletion;SAVANT_ENST=ENST00000361547;SAVANT_GENE=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPN1" target="_blank">SEPN1</a>;SAVANT_INFO=+/18.0kb/13/4.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.302-8delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEPN1+c.302-8delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26128484">View</a>	GT:AD:DP:GQ:PL:TP	0/1:50,16:66:99:132,0,960:127	0/1:59,20:79:99:173,0,1114:127	0/1:44,17:61:99:234,0,880:127
1	26131654	.	G	A	16578.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Muscular_dystrophy|_rigid_spine|_1|_602771_(3)|_Myopathy|_congenital|_with_fiber-type_disproportion|_255310_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7349185;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7349185" target="_blank">rs7349185</a>;ExAC.Info.AC=101781;ExAC.Info.AN=125200;ExAC.Info.AF=0.813;ExAC.Info.AC_Het=18267;ExAC.Info.AC_Hom=41675;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000082016;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tAc;snpeff.Amino_Acid_Change=p.Cys142Tyr/c.425G>A;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPN1" target="_blank">SEPN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361547;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;TYPE=SNP;SAVANT_ENST=ENST00000361547;SAVANT_GENE=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPN1" target="_blank">SEPN1</a>;SAVANT_INFO=+/18.0kb/13/4.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.425G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEPN1+c.425G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26131654">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000082016" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1939,162,0:127	1|1:0,83:83:99:3024,250,0:127	1|1:0,61:61:99:2142,183,0:127
1	26138136	.	C	A	33900.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=414;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Muscular_dystrophy|_rigid_spine|_1|_602771_(3)|_Myopathy|_congenital|_with_fiber-type_disproportion|_255310_(3);dbSNP139.ID=rs760598;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=760598" target="_blank">rs760598</a>;ExAC.Info.AC=97401;ExAC.Info.AN=125092;ExAC.Info.AF=0.779;ExAC.Info.AC_Het=19024;ExAC.Info.AC_Hom=37984;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.67-46C>A;snpeff.Gene_Name=RP1-317E23.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-317E236" target="_blank">RP1-317E236</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000559265;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1093-46C>A;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-317E236" target="_blank">RP1-317E236</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361547;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;TYPE=SNP;SAVANT_ENST=ENST00000361547;SAVANT_GENE=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPN1" target="_blank">SEPN1</a>;SAVANT_INFO=+/18.0kb/13/4.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1093-46C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEPN1+c.1093-46C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26138136">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3554,325,0:127	1|1:0,195:195:99:6550,586,0:127	1|1:0,111:111:99:3896,334,0:127
1	26138262	.	T	C	31174.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Muscular_dystrophy|_rigid_spine|_1|_602771_(3)|_Myopathy|_congenital|_with_fiber-type_disproportion|_255310_(3);dbSNP139.ID=rs760597;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=760597" target="_blank">rs760597</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=97294;ExAC.Info.AN=123850;ExAC.Info.AF=0.786;ExAC.Info.AC_Het=13285;ExAC.Info.AC_Hom=27736;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000082009;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.147T>C;snpeff.Gene_Name=RP1-317E23.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-317E236" target="_blank">RP1-317E236</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000559265;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro391Pro/c.1173T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-317E236" target="_blank">RP1-317E236</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361547;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;TYPE=SNP;SAVANT_ENST=ENST00000361547;SAVANT_GENE=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPN1" target="_blank">SEPN1</a>;SAVANT_INFO=+/18.0kb/13/4.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1173T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEPN1+c.1173T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26138262">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000082009" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3479,286,0:127	1|1:0,138:138:99:5229,415,0:127	1|1:0,89:89:99:3416,268,0:127
1	26138451	.	A	G	2499.98	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=30;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Muscular_dystrophy|_rigid_spine|_1|_602771_(3)|_Myopathy|_congenital|_with_fiber-type_disproportion|_255310_(3);dbSNP139.ID=rs11247744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11247744" target="_blank">rs11247744</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.255+81A>G;snpeff.Gene_Name=RP1-317E23.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-317E236" target="_blank">RP1-317E236</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000559265;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1281+81A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-317E236" target="_blank">RP1-317E236</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361547;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;TYPE=SNP;SAVANT_ENST=ENST00000361547;SAVANT_GENE=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPN1" target="_blank">SEPN1</a>;SAVANT_INFO=+/18.0kb/13/4.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1281+81A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEPN1+c.1281+81A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26138451">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,9:9:27:345,27,0:15	1|1:0,16:16:48:624,48,0:15	1|1:0,5:5:15:208,15,0:15
1	26139137	.	C	T	10916.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=133;MQ=70.07;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Muscular_dystrophy|_rigid_spine|_1|_602771_(3)|_Myopathy|_congenital|_with_fiber-type_disproportion|_255310_(3);dbSNP139.ID=rs10902685;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902685" target="_blank">rs10902685</a>;ExAC.Info.AC=93849;ExAC.Info.AN=123858;ExAC.Info.AF=0.758;ExAC.Info.AC_Het=12639;ExAC.Info.AC_Hom=27187;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.255+767C>T;snpeff.Gene_Name=RP1-317E23.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-317E236" target="_blank">RP1-317E236</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000559265;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1282-41C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-317E236" target="_blank">RP1-317E236</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361547;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;TYPE=SNP;SAVANT_ENST=ENST00000361547;SAVANT_GENE=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPN1" target="_blank">SEPN1</a>;SAVANT_INFO=+/18.0kb/13/4.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1282-41C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEPN1+c.1282-41C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26139137">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1510,132,0:113	1|1:0,38:38:99:1268,114,0:113	1|1:0,51:51:99:1877,153,0:113
1	26140573	.	C	A	32283.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Muscular_dystrophy|_rigid_spine|_1|_602771_(3)|_Myopathy|_congenital|_with_fiber-type_disproportion|_255310_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2294228;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294228" target="_blank">rs2294228</a>;ExAC.Info.AC=97054;ExAC.Info.AN=125652;ExAC.Info.AF=0.772;ExAC.Info.AC_Het=18595;ExAC.Info.AC_Hom=39073;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000082012;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.255+2203C>A;snpeff.Gene_Name=RP1-317E23.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-317E236" target="_blank">RP1-317E236</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000559265;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaC/aaA;snpeff.Amino_Acid_Change=p.Asn502Lys/c.1506C>A;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-317E236" target="_blank">RP1-317E236</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361547;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;TYPE=SNP;SAVANT_ENST=ENST00000361547;SAVANT_GENE=SEPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPN1" target="_blank">SEPN1</a>;SAVANT_INFO=+/18.0kb/13/4.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1506C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEPN1+c.1506C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26140573">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000082012" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3581,319,0:127	1|1:0,133:133:99:4563,400,0:127	1|1:0,139:139:99:4521,418,0:127
1	26146884	.	C	G	11352.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs984412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=984412" target="_blank">rs984412</a>;ExAC.Info.AC=10314;ExAC.Info.AN=12646;ExAC.Info.AF=0.816;ExAC.Info.AC_Het=1433;ExAC.Info.AC_Hom=4138;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-87+364C>G;snpeff.Amino_Acid_length=292;snpeff.Gene_Name=MTFR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTFR1L" target="_blank">MTFR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374303;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.256-2603C>G;snpeff.Gene_Name=RP1-317E23.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTFR1L" target="_blank">MTFR1L</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000559265;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Cct;snpeff.Amino_Acid_Change=p.Ala123Pro/c.367G>C;snpeff.Amino_Acid_length=168;snpeff.Gene_Name=AL020996.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTFR1L" target="_blank">MTFR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536896;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374301:ENST00000536896;SAVANT_GENE=FAM54B:AL020996.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM54B:AL0209961" target="_blank">FAM54B:AL0209961</a>;SAVANT_INFO=+/12.7kb/7/2.1kb:-/2.1kb/1/2.1kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-2712C>G:c.367G>C_p.Ala123Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM54B:AL0209961+c.-2712C>G:c.367G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26146884">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1394,111,0:125	1|1:0,43:43:99:1596,129,0:125	1|1:0,43:43:99:1513,129,0:125
1	26152758	.	A	G	28747.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6598924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6598924" target="_blank">rs6598924</a>;ExAC.Info.AC=103001;ExAC.Info.AN=125362;ExAC.Info.AF=0.822;ExAC.Info.AC_Het=17125;ExAC.Info.AC_Hom=41561;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.130-35A>G;snpeff.Amino_Acid_length=292;snpeff.Gene_Name=MTFR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTFR1L" target="_blank">MTFR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374303;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374301;SAVANT_GENE=FAM54B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM54B" target="_blank">FAM54B</a>;SAVANT_INFO=+/12.7kb/7/2.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.130-35A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM54B+c.130-35A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26152758">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:3906,360,0:127	1|1:0,119:119:99:4128,358,0:127	1|1:0,104:104:99:3493,312,0:127
1	26227608	.	CAA	C	852.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.378+372_378+373delTT;snpeff.Amino_Acid_length=174;snpeff.Gene_Name=STMN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STMN1" target="_blank">STMN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426559;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000426559;SAVANT_GENE=STMN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STMN1" target="_blank">STMN1</a>;SAVANT_INFO=-/21.0kb/5/0.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.378+372_378+373delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=STMN1+c.378+372_378+373delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26227608">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,4:15:37:37,0,223:37	0/1:26,14:40:99:158,0,456:37	0/1:19,12:31:99:138,0,376:37
1	26310394	.	A	G	2166.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2275102;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275102" target="_blank">rs2275102</a>;ExAC.Info.AC=80158;ExAC.Info.AN=126664;ExAC.Info.AF=0.633;ExAC.Info.AC_Het=26873;ExAC.Info.AC_Hom=26554;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.552+43T>C;snpeff.Amino_Acid_length=392;snpeff.Gene_Name=PAFAH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAFAH2" target="_blank">PAFAH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374282;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374282;SAVANT_GENE=PAFAH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAFAH2" target="_blank">PAFAH2</a>;SAVANT_INFO=-/38.4kb/11/3.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.552+43T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAFAH2+c.552+43T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26310394">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,988:87	0|1:19,19:38:99:521,0,510:87	0|1:12,18:30:99:582,0,363:87
1	26314625	.	G	A	2896.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2257255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2257255" target="_blank">rs2257255</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.341+97C>T;snpeff.Amino_Acid_length=392;snpeff.Gene_Name=PAFAH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAFAH2" target="_blank">PAFAH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374282;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374282;SAVANT_GENE=PAFAH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAFAH2" target="_blank">PAFAH2</a>;SAVANT_INFO=-/38.4kb/11/3.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.341+97C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAFAH2+c.341+97C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26314625">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,23:36:99:625,0,344:127	0|0:48,0:48:99:0,144,1726:127	1|0:23,19:42:99:526,0,674:127
1	26349109	.	C	CT	7617.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs78022960;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78022960" target="_blank">rs78022960</a>;ExAC.Info.AC=19383;ExAC.Info.AN=125836;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=15143;ExAC.Info.AC_Hom=1764;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=28;snpeff.Amino_Acid_Change=c.-28_-29insT;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000374280;SAVANT_GENE=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;SAVANT_INFO=+/14.7kb/11/4.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-27dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXTL1+c.-27dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26349109">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,47:103:99:1361,0,1688:127	1|0:61,45:106:99:1276,0,1855:127	0|0:78,0:78:99:0,235,2762:127
1	26357656	.	C	A	19182.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=1046;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2736831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2736831" target="_blank">rs2736831</a>;ExAC.Info.AC=85633;ExAC.Info.AN=126702;ExAC.Info.AF=0.676;ExAC.Info.AC_Het=25407;ExAC.Info.AC_Hom=30088;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Aac;snpeff.Amino_Acid_Change=p.His379Asn/c.1135C>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374280;SAVANT_GENE=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;SAVANT_INFO=+/14.7kb/11/4.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1135C>A_p.His379Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXTL1+c.1135C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26357656">View</a>	GT:AD:DP:GQ:PL:TP	0|0:308,2:310:99:0,881,10571:127	0|1:188,199:387:99:5161,0,5467:127	0|1:178,171:349:99:4456,0,4814:127
1	26357667	.	G	A	20776.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1065;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11247848;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11247848" target="_blank">rs11247848</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=21912;ExAC.Info.AN=126700;ExAC.Info.AF=0.173;ExAC.Info.AC_Het=17826;ExAC.Info.AC_Hom=2033;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu382Leu/c.1146G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374280;SAVANT_GENE=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;SAVANT_INFO=+/14.7kb/11/4.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1146G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXTL1+c.1146G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26357667">View</a>	GT:AD:DP:GQ:PL:TP	0|1:158,165:323:99:4033,0,4800:127	1|0:206,193:399:99:5073,0,6024:127	0|0:343,0:343:99:0,1030,11829:127
1	26357855	.	A	G	25703.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2802321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2802321" target="_blank">rs2802321</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1235-96A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374280;SAVANT_GENE=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;SAVANT_INFO=+/14.7kb/11/4.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1235-96A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXTL1+c.1235-96A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26357855">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2709,205,0:127	1|1:0,107:107:99:4085,322,0:127	1|1:0,91:91:99:3541,274,0:127
1	26362001	.	C	T	5545.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6665062;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665062" target="_blank">rs6665062</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=163;snpeff.Amino_Acid_Change=c.*163C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374280;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374280;SAVANT_GENE=EXTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXTL1" target="_blank">EXTL1</a>;SAVANT_INFO=+/14.7kb/11/4.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*163C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXTL1+c.*163C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26362001">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,31:56:99:781,0,696:127	1|0:31,51:82:99:1363,0,775:127	0|0:50,0:50:99:0,150,1774:127
1	26365549	.	C	T	4468.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Zinc_deficiency|_transient_neonatal|_608118_(3);dbSNP139.ID=rs2997452;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2997452" target="_blank">rs2997452</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=102;snpeff.Amino_Acid_Change=c.*102G>A;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=SLC30A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A2" target="_blank">SLC30A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374276;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374276;SAVANT_GENE=SLC30A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A2" target="_blank">SLC30A2</a>;SAVANT_INFO=-/8.1kb/8/2.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*102G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC30A2+c.*102G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26365549">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,277,3349:127	0|1:32,46:78:99:1312,0,1008:127	0|1:39,31:70:99:942,0,1121:127
1	26369297	.	T	C	8384.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Zinc_deficiency|_transient_neonatal|_608118_(3);dbSNP139.ID=rs2997451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2997451" target="_blank">rs2997451</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.573-98A>G;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=SLC30A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A2" target="_blank">SLC30A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374276;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573T>C;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=SLC30A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A2" target="_blank">SLC30A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374276;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573T>C;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=SLC30A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A2" target="_blank">SLC30A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374276;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374276;SAVANT_GENE=SLC30A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A2" target="_blank">SLC30A2</a>;SAVANT_INFO=-/8.1kb/8/2.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.573-98A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC30A2+c.573-98A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26369297">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,30:61:99:985,0,761:127	1|1:2,62:64:99:2266,143,0:127	0|1:33,26:59:99:692,0,870:127
1	26371788	.	G	A	7451.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Zinc_deficiency|_transient_neonatal|_608118_(3);dbSNP139.ID=rs3121763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3121763" target="_blank">rs3121763</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.51-80C>T;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=SLC30A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A2" target="_blank">SLC30A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374276;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374276;SAVANT_GENE=SLC30A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A2" target="_blank">SLC30A2</a>;SAVANT_INFO=-/8.1kb/8/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.51-80C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC30A2+c.51-80C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26371788">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,23:53:99:617,0,890:127	1|1:0,55:55:99:1902,165,0:127	0|1:30,26:56:99:688,0,862:127
1	26385003	.	T	C	9556.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275950" target="_blank">rs2275950</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=24363;ExAC.Info.AN=126704;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=19146;ExAC.Info.AC_Hom=2607;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.709T>C;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374272;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Gaa;snpeff.Amino_Acid_Change=p.Lys237Glu/c.709A>G;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374272;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374272;SAVANT_GENE=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;SAVANT_INFO=-/16.3kb/9/1.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.709A>G_p.Lys237Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM63+c.709A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26385003">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,48:99:99:1389,0,1398:127	1|0:69,75:144:99:2248,0,1919:127	0|0:92,0:92:99:0,277,3211:127
1	26385150	.	G	C	6903.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2275949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275949" target="_blank">rs2275949</a>;ExAC.Info.AC=23360;ExAC.Info.AN=126606;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=18394;ExAC.Info.AC_Hom=2327;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.598-36C>G;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374272;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TTN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598G>C;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374272;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TTN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598G>C;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374272;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TTN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598G>C;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374272;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TTN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598G>C;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374272;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374272;SAVANT_GENE=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;SAVANT_INFO=-/16.3kb/9/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.598-36C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM63+c.598-36C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26385150">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,32:74:99:1135,0,1358:127	1|0:55,52:107:99:1640,0,1721:127	0|0:93,0:93:99:0,280,3549:127
1	26392929	.	A	C	1270.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41284327;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41284327" target="_blank">rs41284327</a>;ExAC.Info.AC=162;ExAC.Info.AN=126594;ExAC.Info.AF=1.280e-03;ExAC.Info.AC_Het=152;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.162A>C;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374272;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.162A>C;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374272;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcG;snpeff.Amino_Acid_Change=p.Ala54Ala/c.162T>G;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374272;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.162T>G;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374272;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374272;SAVANT_GENE=TRIM63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM63" target="_blank">TRIM63</a>;SAVANT_INFO=-/16.3kb/9/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.162T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM63+c.162T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26392929">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1786:127	0|0:54,0:54:99:0,162,1811:127	0|1:30,27:57:99:654,0,919:127
1	26487940	.	A	G	14398.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748856;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748856" target="_blank">rs3748856</a>;ExAC.Info.AC=26526;ExAC.Info.AN=118164;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=9200;ExAC.Info.AC_Hom=1766;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His53Arg/c.158A>G;snpeff.Amino_Acid_length=271;snpeff.Gene_Name=FAM110D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM110D" target="_blank">FAM110D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374268;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374268;SAVANT_GENE=GRRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRRP1" target="_blank">GRRP1</a>;SAVANT_INFO=+/3.6kb/2/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.158A>G_p.His53Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRRP1+c.158A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26487940">View</a>	GT:AD:DP:GQ:PL:TP	1|0:90,81:171:99:2196,0,2289:127	0|0:166,0:166:99:0,494,5256:127	1|1:0,103:103:99:3622,310,0:127
1	26488019	.	G	A	11341.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3748857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748857" target="_blank">rs3748857</a>;ExAC.Info.AC=11315;ExAC.Info.AN=88440;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=2604;ExAC.Info.AC_Hom=670;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro79Pro/c.237G>A;snpeff.Amino_Acid_length=271;snpeff.Gene_Name=FAM110D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM110D" target="_blank">FAM110D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374268;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374268;SAVANT_GENE=GRRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRRP1" target="_blank">GRRP1</a>;SAVANT_INFO=+/3.6kb/2/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.237G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRRP1+c.237G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26488019">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,48:94:99:1378,0,1359:127	1|1:0,92:92:99:3442,277,0:127	0|0:75,0:75:99:0,225,2776:127
1	26496455	.	C	T	2779.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2232648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232648" target="_blank">rs2232648</a>;ExAC.Info.AC=15153;ExAC.Info.AN=93282;ExAC.Info.AF=0.162;ExAC.Info.AC_Het=2064;ExAC.Info.AC_Hom=334;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-96L14.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96L147" target="_blank">RP11-96L147</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=20;snpeff.Amino_Acid_Change=c.-20C>T;snpeff.Amino_Acid_length=156;snpeff.Gene_Name=ZNF593;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96L147" target="_blank">RP11-96L147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=156;snpeff.Gene_Name=ZNF593;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96L147" target="_blank">RP11-96L147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374266;SAVANT_GENE=ZNF593;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF593" target="_blank">ZNF593</a>;SAVANT_INFO=+/2.2kb/3/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-20C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF593+c.-20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26496455">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,11:24:99:370,0,389:59	0|0:32,0:32:96:0,96,1286:59	1|1:0,20:20:60:730,60,0:59
1	26508293	.	G	A	17906.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=455;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3819033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3819033" target="_blank">rs3819033</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.393-55G>A;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CRIC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.393G>A;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CRIC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.393G>A;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CRIC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.393G>A;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361530;SAVANT_GENE=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;SAVANT_INFO=+/12.5kb/21/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.393-55G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNKSR1+c.393-55G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26508293">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,73:151:99:2010,0,2373:127	1|1:0,189:189:99:6424,568,0:127	0|0:115,0:115:99:0,346,4147:127
1	26508480	.	T	C	14476.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2275945;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275945" target="_blank">rs2275945</a>;ExAC.Info.AC=27383;ExAC.Info.AN=126702;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=16686;ExAC.Info.AC_Hom=5316;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.477+48T>C;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CRIC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.478T>C;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CRIC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.478T>C;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CRIC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.478T>C;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361530;SAVANT_GENE=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;SAVANT_INFO=+/12.5kb/21/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.477+48T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNKSR1+c.477+48T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26508480">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,64:117:99:1881,0,1639:127	1|1:1,139:140:99:4829,385,0:127	0|0:111,0:111:99:0,334,4248:127
1	26511700	.	A	G	23886.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2783680;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2783680" target="_blank">rs2783680</a>;ExAC.Info.AC=39908;ExAC.Info.AN=72150;ExAC.Info.AF=0.553;ExAC.Info.AC_Het=3711;ExAC.Info.AC_Hom=4596;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1329+23A>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1330A>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1330A>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1330A>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1330A>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361530;SAVANT_GENE=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;SAVANT_INFO=+/12.5kb/21/2.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1308+23A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNKSR1+c.1308+23A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26511700">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2829,252,0:127	1|1:0,112:112:99:3693,336,0:127	1|1:0,101:101:99:3444,303,0:127
1	26515529	.	ACCAGACT	A	10970.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11278474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11278474" target="_blank">rs11278474</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1893+86_1893+92delCCAGACT;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894_1900delCCAGACT;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894_1900delCCAGACT;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374253;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361530;SAVANT_GENE=CNKSR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNKSR1" target="_blank">CNKSR1</a>;SAVANT_INFO=+/12.5kb/21/2.6kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.1872+101_1872+107del7;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNKSR1+c.1872+101_1872+107del7+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26515529">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1622,113,0:100	1|1:0,35:35:99:1527,107,0:100	1|1:0,33:33:99:1489,102,0:100
1	26524706	.	A	G	19128.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=507;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs9970046;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9970046" target="_blank">rs9970046</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.679-71A>G;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=CATSPER4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CATSPER4" target="_blank">CATSPER4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338855;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456354;SAVANT_GENE=CATSPER4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CATSPER4" target="_blank">CATSPER4</a>;SAVANT_INFO=+/12.4kb/10/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.679-71A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CATSPER4+c.679-71A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26524706">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,69:136:99:2354,0,1853:127	0|0:212,0:212:99:0,638,7764:127	1|1:0,159:159:99:6395,478,0:127
1	26582091	.	G	A	28429.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=706;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795686" target="_blank">rs3795686</a>;ExAC.Info.AC=32301;ExAC.Info.AN=126702;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=23347;ExAC.Info.AC_Hom=4476;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser213Asn/c.638G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000252992;SAVANT_GENE=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;SAVANT_INFO=+/44.6kb/14/3.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.638G>A_p.Ser213Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP85+c.638G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26582091">View</a>	GT:AD:DP:GQ:PL:TP	1|0:113,111:224:99:2921,0,3420:127	0|1:147,130:277:99:3382,0,4391:127	1|1:0,205:205:99:6882,616,0:127
1	26597435	.	G	A	11879.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4659419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4659419" target="_blank">rs4659419</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1650-70G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1650G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1650G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1650G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1650G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1650G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1650G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1650G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1650G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1650G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000252992;SAVANT_GENE=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;SAVANT_INFO=+/44.6kb/14/3.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1650-70G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP85+c.1650-70G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26597435">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,35:91:99:859,0,1583:127	0|1:51,59:110:99:1593,0,1516:127	1|1:0,78:78:99:2684,234,0:127
1	26601385	.	G	A	9336.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3795685;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795685" target="_blank">rs3795685</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1795-70G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000252992;SAVANT_GENE=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;SAVANT_INFO=+/44.6kb/14/3.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1795-70G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP85+c.1795-70G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26601385">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,33:61:99:932,0,865:127	0|1:31,37:68:99:1067,0,940:127	1|1:0,60:60:99:2075,180,0:127
1	26601570	.	A	G	4567.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11577318;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11577318" target="_blank">rs11577318</a>;ExAC.Info.AC=14099;ExAC.Info.AN=117664;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=5255;ExAC.Info.AC_Hom=549;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1902+8A>G;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1903A>G;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1903A>G;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1903A>G;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1903A>G;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1903A>G;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1903A>G;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1903A>G;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1903A>G;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1903A>G;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1903A>G;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000252992;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000252992;SAVANT_GENE=CEP85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP85" target="_blank">CEP85</a>;SAVANT_INFO=+/44.6kb/14/3.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1902+8A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP85+c.1902+8A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26601570">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,20:42:99:669,0,611:127	1|0:32,29:61:99:871,0,936:127	0|0:44,0:44:99:0,132,1526:127
1	26608782	.	C	T	4927.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=90;MQ=69.29;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs34209692;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34209692" target="_blank">rs34209692</a>;ExAC.Info.AC=28529;ExAC.Info.AN=119252;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=16538;ExAC.Info.AC_Hom=3308;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.*8G>A;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374222;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374222;SAVANT_GENE=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;SAVANT_INFO=-/36.1kb/16/2.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*8G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBXN11+c.*8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26608782">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,16:27:99:505,0,375:59	0|1:22,21:43:99:658,0,766:59	1|1:0,20:20:59:780,59,0:59
1	26608814	.	A	G	4173.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=71;MQ=70.09;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs6672357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6672357" target="_blank">rs6672357</a>;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro513Pro/c.1539T>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374222;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374222;SAVANT_GENE=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;SAVANT_INFO=-/36.1kb/16/2.0kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1539T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBXN11+c.1539T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26608814">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,12:26:99:562,0,518:48	0|1:19,11:30:99:429,0,862:48	1|1:0,15:15:48:713,48,0:48
1	26609259	.	C	T	15689.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7522905;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7522905" target="_blank">rs7522905</a>;ExAC.Info.AC=66312;ExAC.Info.AN=125622;ExAC.Info.AF=0.528;ExAC.Info.AC_Het=28439;ExAC.Info.AC_Hom=18843;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr391Thr/c.1173G>A;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374222;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374222;SAVANT_GENE=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;SAVANT_INFO=-/36.1kb/16/2.0kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1173G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBXN11+c.1173G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26609259">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,46:98:99:1393,0,1478:127	0|1:65,62:127:99:1717,0,1900:127	1|1:0,118:118:99:3958,354,0:127
1	26609307	.	G	T	10898.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs6598952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6598952" target="_blank">rs6598952</a>;ExAC.Info.AC=103950;ExAC.Info.AN=125526;ExAC.Info.AF=0.828;ExAC.Info.AC_Het=14523;ExAC.Info.AC_Hom=44488;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1152-27C>A;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374222;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374222;SAVANT_GENE=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;SAVANT_INFO=-/36.1kb/16/2.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1152-27C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBXN11+c.1152-27C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26609307">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,28:63:99:688,0,1085:127	0|1:46,49:95:99:1528,0,1391:127	1|1:0,67:67:99:2435,201,0:127
1	26610891	.	A	C	8638.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4332350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4332350" target="_blank">rs4332350</a>;ExAC.Info.AC=103854;ExAC.Info.AN=125380;ExAC.Info.AF=0.828;ExAC.Info.AC_Het=14518;ExAC.Info.AC_Hom=44454;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cGg;snpeff.Amino_Acid_Change=p.Leu312Arg/c.935T>G;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374222;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374222;SAVANT_GENE=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;SAVANT_INFO=-/36.1kb/16/2.0kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.935T>G_p.Leu312Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBXN11+c.935T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26610891">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,31:71:99:881,0,1234:127	0|1:41,35:76:99:977,0,1279:127	1|1:0,55:55:99:1928,165,0:127
1	26612042	.	A	G	3999.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11247898;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11247898" target="_blank">rs11247898</a>;ExAC.Info.AC=102937;ExAC.Info.AN=125392;ExAC.Info.AF=0.821;ExAC.Info.AC_Het=13024;ExAC.Info.AC_Hom=39449;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.775-10T>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374222;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374222;SAVANT_GENE=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;SAVANT_INFO=-/36.1kb/16/2.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.775-10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBXN11+c.775-10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26612042">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,14:27:99:372,0,318:63	0|1:14,22:36:99:650,0,388:63	1|1:0,21:21:63:782,63,0:63
1	26627478	.	T	C	27966.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=674;MQ=69.98;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2276712;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2276712" target="_blank">rs2276712</a>;ExAC.Info.AC=83950;ExAC.Info.AN=125658;ExAC.Info.AF=0.668;ExAC.Info.AC_Het=26194;ExAC.Info.AC_Hom=28802;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser46Ser/c.138A>G;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374222;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374222;SAVANT_GENE=UBXN11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBXN11" target="_blank">UBXN11</a>;SAVANT_INFO=-/36.1kb/16/2.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.138A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBXN11+c.138A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26627478">View</a>	GT:AD:DP:GQ:PL:TP	1|0:136,117:253:99:2963,0,3585:127	0|1:114,101:215:99:2762,0,3300:127	1|1:0,206:206:99:6633,617,0:127
1	26646611	.	TA	T	954.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs111668601;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111668601" target="_blank">rs111668601</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.55-50delA;snpeff.Amino_Acid_length=61;snpeff.Gene_Name=CD52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD52" target="_blank">CD52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374213;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.55delA;snpeff.Amino_Acid_length=61;snpeff.Gene_Name=CD52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD52" target="_blank">CD52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374213;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.55delA;snpeff.Amino_Acid_length=61;snpeff.Gene_Name=CD52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD52" target="_blank">CD52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374213;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000374213;SAVANT_GENE=CD52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD52" target="_blank">CD52</a>;SAVANT_INFO=+/2.6kb/2/0.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.55-35delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD52+c.55-35delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26646611">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,8:27:99:120,0,306:119	0/1:29,9:38:99:162,0,476:119	0/1:18,8:26:99:141,0,264:119
1	26646726	.	A	G	26795.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=408;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1071849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1071849" target="_blank">rs1071849</a>;cosmic68.Histology_subtype=squamous_cell_carcinoma;ExAC.Info.AC=85121;ExAC.Info.AN=126704;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=26499;ExAC.Info.AC_Hom=29262;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.119A>G;snpeff.Amino_Acid_length=61;snpeff.Gene_Name=CD52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD52" target="_blank">CD52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374213;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[glycosylation_site:N-linked__GlcNAc..._];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.119A>G;snpeff.Amino_Acid_length=61;snpeff.Gene_Name=CD52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD52" target="_blank">CD52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374213;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn40Ser/c.119A>G;snpeff.Amino_Acid_length=61;snpeff.Gene_Name=CD52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD52" target="_blank">CD52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374213;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374213;SAVANT_GENE=CD52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD52" target="_blank">CD52</a>;SAVANT_INFO=+/2.6kb/2/0.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.119A>G_p.Asn40Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD52+c.119A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26646726">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,64:121:99:2493,0,2101:127	0|1:78,87:165:99:3370,0,2973:127	1|1:0,122:122:99:5459,367,0:127
1	26646730	.	A	G	26563.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17645;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17645" target="_blank">rs17645</a>;cosmic68.Histology_subtype=squamous_cell_carcinoma;ExAC.Info.AC=85123;ExAC.Info.AN=126704;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=26499;ExAC.Info.AC_Hom=29261;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.123A>G;snpeff.Amino_Acid_length=61;snpeff.Gene_Name=CD52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD52" target="_blank">CD52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374213;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atA/atG;snpeff.Amino_Acid_Change=p.Ile41Met/c.123A>G;snpeff.Amino_Acid_length=61;snpeff.Gene_Name=CD52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD52" target="_blank">CD52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374213;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374213;SAVANT_GENE=CD52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD52" target="_blank">CD52</a>;SAVANT_INFO=+/2.6kb/2/0.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.123A>G_p.Ile41Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD52+c.123A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26646730">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,60:111:99:2442,0,2026:127	0|1:76,84:160:99:3348,0,2996:127	1|1:0,120:120:99:5434,364,0:127
1	26648551	.	G	C	26290.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=561;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11247913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11247913" target="_blank">rs11247913</a>;ExAC.Info.AC=84329;ExAC.Info.AN=126642;ExAC.Info.AF=0.666;ExAC.Info.AC_Het=26449;ExAC.Info.AC_Hom=28706;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2276-4C>G;snpeff.Amino_Acid_length=787;snpeff.Gene_Name=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527815;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000527815;SAVANT_GENE=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;SAVANT_INFO=-/22.2kb/19/2.5kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2276-4C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIM1L+c.2276-4C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26648551">View</a>	GT:AD:DP:GQ:PL:TP	1|0:77,85:162:99:2305,0,2324:127	0|1:111,134:245:99:4005,0,3162:127	1|1:0,154:154:99:5499,463,0:127
1	26662774	.	C	T	12976.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7517559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7517559" target="_blank">rs7517559</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1449+55G>A;snpeff.Amino_Acid_length=787;snpeff.Gene_Name=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527815;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000527815;SAVANT_GENE=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;SAVANT_INFO=-/22.2kb/19/2.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1449+55G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIM1L+c.1449+55G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26662774">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,30:71:99:916,0,1343:127	0|1:56,52:108:99:1570,0,1622:127	1|1:0,83:83:99:2970,249,0:127
1	26662904	.	C	T	16889.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs72649360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72649360" target="_blank">rs72649360</a>;ExAC.Info.AC=32514;ExAC.Info.AN=126526;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=21675;ExAC.Info.AC_Hom=3938;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1417-43G>A;snpeff.Amino_Acid_length=787;snpeff.Gene_Name=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527815;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000527815;SAVANT_GENE=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;SAVANT_INFO=-/22.2kb/19/2.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1417-43G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIM1L+c.1417-43G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26662904">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,51:111:99:1353,0,1786:127	0|1:55,81:136:99:2226,0,1696:127	1|1:0,101:101:99:3481,304,0:127
1	26670401	.	G	A	5588.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41285435;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41285435" target="_blank">rs41285435</a>;ExAC.Info.AC=149;ExAC.Info.AN=22574;ExAC.Info.AF=6.601e-03;ExAC.Info.AC_Het=118;ExAC.Info.AC_Hom=3;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr42Thr/c.126C>T;snpeff.Amino_Acid_length=787;snpeff.Gene_Name=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527815;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000527815;SAVANT_GENE=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;SAVANT_INFO=-/22.2kb/19/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.126C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIM1L+c.126C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26670401">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,40:67:99:1136,0,785:127	1|0:49,34:83:99:1009,0,1521:127	0|0:75,0:75:99:0,225,2491:127
1	26670444	.	G	T	11378.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs36024412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36024412" target="_blank">rs36024412</a>;ExAC.Info.AC=4285;ExAC.Info.AN=22732;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=2498;ExAC.Info.AC_Hom=396;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tAc;snpeff.Amino_Acid_Change=p.Ser28Tyr/c.83C>A;snpeff.Amino_Acid_length=787;snpeff.Gene_Name=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527815;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000527815;SAVANT_GENE=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;SAVANT_INFO=-/22.2kb/19/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.83C>A_p.Ser28Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIM1L+c.83C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26670444">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,41:81:99:1045,0,1062:127	0|1:42,52:94:99:1445,0,1118:127	1|1:1,73:74:99:2352,188,0:127
1	26670609	.	C	T	15936.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs34370465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34370465" target="_blank">rs34370465</a>;ExAC.Info.AC=6055;ExAC.Info.AN=47004;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=2324;ExAC.Info.AC_Hom=379;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIM1L+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26670609">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,55:111:99:1507,0,1610:127	0|1:56,67:123:99:1928,0,1507:127	1|1:0,97:97:99:3273,291,0:127
1	26670650	.	T	TTCC	9247.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs199784730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199784730" target="_blank">rs199784730</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIM1L+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26670650">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,51:109:99:2018,0,2270:127	1|0:62,42:104:99:1681,0,2449:127	0|0:73,0:73:99:0,221,3281:127
1	26671522	.	GAAATGAGGCATCA	G	5262.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=113;MQ=64.63;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;ExAC.Info.AC=16666;ExAC.Info.AN=73412;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=2924;ExAC.Info.AC_Hom=2080;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIM1L+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26671522">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,9:34:99:279,0,1064:87	0|1:33,17:50:99:590,0,1326:87	1|1:0,29:29:88:1268,88,0:87
1	26671538	.	AGCAC	A	5386.98	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=109;MQ=64.42;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;ExAC.Info.AC=24954;ExAC.Info.AN=82068;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=3492;ExAC.Info.AC_Hom=2062;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIM1L+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26671538">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,8:33:99:321,0,1062:87	0|1:31,17:48:99:630,0,1290:87	1|1:0,28:28:87:1266,87,0:87
1	26671544	.	GGGGCCCTTCACGACCTCTTTCCAGGTGGGGAACA	G	4847.98	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=129;MQ=65.72;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AIM1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIM1L" target="_blank">AIM1L</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIM1L+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26671544">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,8:38:99:236,0,1235:82	0|1:46,18:64:99:583,0,1956:82	1|1:0,27:27:82:1181,82,0:82
1	26688524	.	C	T	4108.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41285437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41285437" target="_blank">rs41285437</a>;ExAC.Info.AC=2332;ExAC.Info.AN=126430;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2258;ExAC.Info.AC_Hom=39;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1204-11G>A;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403843;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1204C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403843;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1204C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403843;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374204;SAVANT_GENE=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;SAVANT_INFO=-/11.1kb/6/1.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1144-11G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF683+c.1144-11G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26688524">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,0:149:99:0,447,4905:127	0|0:156,0:156:99:0,469,5367:127	0|1:70,73:143:99:2073,0,1935:127
1	26689659	.	G	A	9039.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11247932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11247932" target="_blank">rs11247932</a>;ExAC.Info.AC=40227;ExAC.Info.AN=126384;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=25797;ExAC.Info.AC_Hom=6262;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1015-14C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403843;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015G>A;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403843;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015G>A;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403843;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374204;SAVANT_GENE=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;SAVANT_INFO=-/11.1kb/6/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1015-14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF683+c.1015-14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26689659">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,31:73:99:857,0,1163:127	0|1:41,35:76:99:960,0,1253:127	1|1:0,63:63:99:2135,189,0:127
1	26691174	.	C	A	14279.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11247933;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11247933" target="_blank">rs11247933</a>;ExAC.Info.AC=41197;ExAC.Info.AN=126396;ExAC.Info.AF=0.326;ExAC.Info.AC_Het=26908;ExAC.Info.AC_Hom=7138;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cTt;snpeff.Amino_Acid_Change=p.Arg288Leu/c.863G>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403843;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374204;SAVANT_GENE=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;SAVANT_INFO=-/11.1kb/6/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.863G>T_p.Arg288Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF683+c.863G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26691174">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,64:108:99:1894,0,1231:127	0|1:50,70:120:99:2155,0,1260:127	1|1:0,73:73:99:2604,219,0:127
1	26694245	.	T	C	4460.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=131;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10794531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794531" target="_blank">rs10794531</a>;ExAC.Info.AC=45561;ExAC.Info.AN=126282;ExAC.Info.AF=0.361;ExAC.Info.AC_Het=25832;ExAC.Info.AC_Hom=8484;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His53Arg/c.158A>G;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403843;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374204;SAVANT_GENE=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;SAVANT_INFO=-/11.1kb/6/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.158A>G_p.His53Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF683+c.158A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26694245">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,11:33:99:387,0,1299:127	1|0:24,31:55:99:1194,0,1179:127	0|0:43,0:43:99:0,132,2940:127
1	26694260	.	T	C	4587.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=126;MQ=69.87;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10794532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794532" target="_blank">rs10794532</a>;ExAC.Info.AC=32990;ExAC.Info.AN=126240;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=21104;ExAC.Info.AC_Hom=4600;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp48Gly/c.143A>G;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403843;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374204;SAVANT_GENE=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;SAVANT_INFO=-/11.1kb/6/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.143A>G_p.Asp48Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF683+c.143A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26694260">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,9:32:99:339,0,1346:125	1|0:20,33:53:99:1315,0,1107:125	0|0:41,0:41:99:0,126,2845:125
1	26698884	.	T	C	1618.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11247936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11247936" target="_blank">rs11247936</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-12+276A>G;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403843;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374204;SAVANT_GENE=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;SAVANT_INFO=-/11.1kb/6/1.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-3822A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF683+c.-3822A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26698884">View</a>	GT:AD:DP:GQ:PL:TP	0|1:6,11:17:99:394,0,170:60	1|0:18,14:32:99:477,0,538:60	0|0:20,0:20:60:0,60,756:60
1	26698938	.	A	G	4195.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6703878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6703878" target="_blank">rs6703878</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-12+222T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403843;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374204;SAVANT_GENE=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;SAVANT_INFO=-/11.1kb/6/1.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-3876T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF683+c.-3876T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26698938">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,32:60:99:915,0,692:127	1|0:46,32:78:99:910,0,1263:127	0|0:48,0:48:99:0,144,1640:127
1	26700631	.	A	G	2777.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12079255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12079255" target="_blank">rs12079255</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF683+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26700631">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,22:41:99:617,0,551:93	1|0:15,24:39:99:646,0,427:93	0|0:31,0:31:93:0,93,1133:93
1	26700795	.	T	C	15364.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7520030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7520030" target="_blank">rs7520030</a>;ExAC.Info.AC=26340;ExAC.Info.AN=26422;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=35;ExAC.Info.AC_Hom=9322;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF683;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF683" target="_blank">ZNF683</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF683+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26700795">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2471,237,0:127	1|1:0,61:61:99:2020,183,0:127	1|1:0,65:65:99:2166,195,0:127
1	26786627	.	G	A	7510.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Retinitis_pigmentosa_59|_613861_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3816539;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3816539" target="_blank">rs3816539</a>;cosmic68.Histology_subtype=secretory;ExAC.Info.AC=39688;ExAC.Info.AN=126704;ExAC.Info.AF=0.313;ExAC.Info.AC_Het=24487;ExAC.Info.AC_Hom=7599;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val253Met/c.757G>A;snpeff.Amino_Acid_length=334;snpeff.Gene_Name=DHDDS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHDDS" target="_blank">DHDDS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360009;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360009;SAVANT_GENE=DHDDS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHDDS" target="_blank">DHDDS</a>;SAVANT_INFO=+/38.9kb/9/3.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.757G>A_p.Val253Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHDDS+c.757G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26786627">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,17:47:99:473,0,884:127	1|1:0,69:69:99:2441,207,0:127	0|0:70,0:70:99:0,210,2491:127
1	26801229	.	C	A	3927.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs72651510;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72651510" target="_blank">rs72651510</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.237+71C>A;snpeff.Amino_Acid_length=90;snpeff.Gene_Name=HMGN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGN2" target="_blank">HMGN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361427;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361427;SAVANT_GENE=HMGN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGN2" target="_blank">HMGN2</a>;SAVANT_INFO=+/3.5kb/6/1.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.237+71C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMGN2+c.237+71C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26801229">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,15:37:99:399,0,724:114	0|0:63,0:63:99:0,189,2246:114	1|1:0,38:38:99:1270,114,0:114
1	26856462	.	T	G	2776.94	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=33;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11800553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11800553" target="_blank">rs11800553</a>;ExAC.Info.AC=13629;ExAC.Info.AN=15026;ExAC.Info.AF=0.907;ExAC.Info.AC_Het=779;ExAC.Info.AC_Hom=4876;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS6KA1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26856462">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:543,45,0:24	1|1:0,9:9:27:320,27,0:24	1|1:0,9:9:27:301,27,0:24
1	26869610	.	G	A	30957.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs921893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=921893" target="_blank">rs921893</a>;ExAC.Info.AC=9562;ExAC.Info.AN=15350;ExAC.Info.AF=0.623;ExAC.Info.AC_Het=2434;ExAC.Info.AC_Hom=2681;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS6KA1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26869610">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,135:135:99:4679,406,0:127	1|1:0,119:119:99:4368,358,0:127	1|1:0,117:117:99:4081,352,0:127
1	26870730	.	C	G	8444.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1466286;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1466286" target="_blank">rs1466286</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS6KA1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26870730">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,34:69:99:997,0,991:127	1|1:0,83:83:99:3103,250,0:127	0|0:54,0:54:99:0,162,2026:127
1	26872554	.	A	G	1094.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12723936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12723936" target="_blank">rs12723936</a>;ExAC.Info.AC=46488;ExAC.Info.AN=126114;ExAC.Info.AF=0.369;ExAC.Info.AC_Het=25278;ExAC.Info.AC_Hom=9538;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.135+28A>G;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531382;SAVANT_GENE=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;SAVANT_INFO=+/28.4kb/21/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.135+28A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS6KA1+c.135+28A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26872554">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1625:127	0|1:28,20:48:99:566,0,802:127	0|0:47,0:47:99:0,141,1560:127
1	26879376	.	T	C	4276.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=475;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7543005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7543005" target="_blank">rs7543005</a>;ExAC.Info.AC=4917;ExAC.Info.AN=15320;ExAC.Info.AF=0.321;ExAC.Info.AC_Het=2135;ExAC.Info.AC_Hom=732;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.496-506T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531382;SAVANT_GENE=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;SAVANT_INFO=+/28.4kb/21/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.496-506T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS6KA1+c.496-506T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26879376">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4348:127	0|1:88,79:167:99:2157,0,2429:127	0|0:171,0:171:99:0,514,5489:127
1	26879920	.	T	C	23347.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4970490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4970490" target="_blank">rs4970490</a>;ExAC.Info.AC=126422;ExAC.Info.AN=126704;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=277;ExAC.Info.AC_Hom=63064;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala178Ala/c.534T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531382;SAVANT_GENE=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;SAVANT_INFO=+/28.4kb/21/2.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.534T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS6KA1+c.534T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26879920">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3213,285,0:127	1|1:0,104:104:99:3629,312,0:127	1|1:0,82:82:99:2849,246,0:127
1	26881806	.	C	A	1780.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs897641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=897641" target="_blank">rs897641</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.854+94C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.855C>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531382;SAVANT_GENE=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;SAVANT_INFO=+/28.4kb/21/2.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.854+94C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS6KA1+c.854+94C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26881806">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1218:98	0|1:37,32:69:99:909,0,1157:98	0|0:49,0:49:99:0,147,1887:98
1	26887592	.	T	C	816.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1064196;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1064196" target="_blank">rs1064196</a>;ExAC.Info.AC=47972;ExAC.Info.AN=126704;ExAC.Info.AF=0.379;ExAC.Info.AC_Het=26916;ExAC.Info.AC_Hom=10520;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr475Tyr/c.1425T>C;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531382;SAVANT_GENE=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;SAVANT_INFO=+/28.4kb/21/2.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1425T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS6KA1+c.1425T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26887592">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1111:89	0|1:28,16:44:99:427,0,779:89	0|0:50,0:50:99:0,150,1652:89
1	26898142	.	A	G	2308.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs188158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=188158" target="_blank">rs188158</a>;ExAC.Info.AC=48851;ExAC.Info.AN=126524;ExAC.Info.AF=0.386;ExAC.Info.AC_Het=24583;ExAC.Info.AC_Hom=10006;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1779+41A>G;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1780A>G;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1780A>G;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1780A>G;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1780A>G;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1780A>G;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1780A>G;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1780A>G;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531382;SAVANT_GENE=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;SAVANT_INFO=+/28.4kb/21/2.4kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1779+41A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS6KA1+c.1779+41A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26898142">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,178,2166:127	0|1:49,35:84:99:1173,0,1496:127	0|0:75,0:75:99:0,225,2664:127
1	26900735	.	C	G	14017.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs282179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=282179" target="_blank">rs282179</a>;ExAC.Info.AC=98711;ExAC.Info.AN=126688;ExAC.Info.AF=0.779;ExAC.Info.AC_Het=21437;ExAC.Info.AC_Hom=38530;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=43;snpeff.Amino_Acid_Change=c.*43C>G;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531382;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531382;SAVANT_GENE=RPS6KA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KA1" target="_blank">RPS6KA1</a>;SAVANT_INFO=+/28.4kb/21/2.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*43C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS6KA1+c.*43C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:26900735">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1911,165,0:127	1|1:0,56:56:99:2088,168,0:127	1|1:0,49:49:99:1984,147,0:127
1	27210721	.	T	C	6977.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3170660;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3170660" target="_blank">rs3170660</a>;ExAC.Info.AC=92607;ExAC.Info.AN=126704;ExAC.Info.AF=0.731;ExAC.Info.AC_Het=22411;ExAC.Info.AC_Hom=35038;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg264Gly/c.790A>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=GPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPN2" target="_blank">GPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374135;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374135;SAVANT_GENE=GPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPN2" target="_blank">GPN2</a>;SAVANT_INFO=-/11.0kb/5/1.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.790A>G_p.Arg264Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPN2+c.790A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27210721">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1130,93,0:92	1|1:0,35:35:99:1183,105,0:92	1|0:34,14:48:99:357,0,954:92
1	27238150	.	A	G	6786.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Obesity|_mild|_early-onset|_601665_(3);dbSNP139.ID=rs7504;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7504" target="_blank">rs7504</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NUDC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDC" target="_blank">NUDC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=186;snpeff.Amino_Acid_Change=c.*186T>C;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=NR0B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDC" target="_blank">NUDC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254227;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254227;SAVANT_GENE=NR0B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR0B2" target="_blank">NR0B2</a>;SAVANT_INFO=-/2.5kb/2/1.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*186T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NR0B2+c.*186T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27238150">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,27:57:99:832,0,803:127	0|0:86,0:86:99:0,258,2915:127	1|1:0,55:55:99:2000,165,0:127
1	27278521	.	G	A	5138.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3010110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3010110" target="_blank">rs3010110</a>;ExAC.Info.AC=27865;ExAC.Info.AN=126572;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=19869;ExAC.Info.AC_Hom=3597;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp117Asp/c.351C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=C1orf172;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf172" target="_blank">C1orf172</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320567;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320567;SAVANT_GENE=C1orf172;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf172" target="_blank">C1orf172</a>;SAVANT_INFO=-/10.8kb/4/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.351C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf172+c.351C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27278521">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,43:60:99:1102,0,448:127	0|0:91,0:91:99:0,273,3254:127	1|0:33,31:64:99:923,0,931:127
1	27278553	.	G	A	4735.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3010109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3010109" target="_blank">rs3010109</a>;ExAC.Info.AC=19565;ExAC.Info.AN=126510;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=15317;ExAC.Info.AC_Hom=1851;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.319G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=C1orf172;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf172" target="_blank">C1orf172</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320567;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg107Trp/c.319C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=C1orf172;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf172" target="_blank">C1orf172</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320567;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320567;SAVANT_GENE=C1orf172;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf172" target="_blank">C1orf172</a>;SAVANT_INFO=-/10.8kb/4/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.319C>T_p.Arg107Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf172+c.319C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27278553">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,43:57:99:1132,0,337:127	0|0:77,0:77:99:0,230,2543:127	1|0:31,28:59:99:707,0,894:127
1	27320356	.	T	C	4589.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=49;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6689941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6689941" target="_blank">rs6689941</a>;ExAC.Info.AC=24010;ExAC.Info.AN=24270;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=11;ExAC.Info.AC_Hom=914;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.79T>C;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=TRNP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRNP1" target="_blank">TRNP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000522111;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp27Arg/c.79T>C;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=TRNP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRNP1" target="_blank">TRNP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000522111;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000522111;SAVANT_GENE=TRNP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRNP1" target="_blank">TRNP1</a>;SAVANT_INFO=+/7.0kb/2/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.79T>C_p.Trp27Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRNP1+c.79T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27320356">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,21:21:63:782,63,0:29	1|1:0,18:18:54:694,54,0:29	1|1:0,10:10:30:414,30,0:29
1	27339103	.	G	T	839.08	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=21;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4970471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4970471" target="_blank">rs4970471</a>;ExAC.Info.AC=12075;ExAC.Info.AN=59698;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=2493;ExAC.Info.AC_Hom=730;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aAg;snpeff.Amino_Acid_Change=p.Thr20Lys/c.59C>A;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=FAM46B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46B" target="_blank">FAM46B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289166;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289166;SAVANT_GENE=FAM46B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46B" target="_blank">FAM46B</a>;SAVANT_INFO=-/7.8kb/2/2.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.59C>A_p.Thr20Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM46B+c.59C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27339103">View</a>	GT:AD:DP:GQ:PL:TP	0|1:7,2:9:48:48,0,268:14	1|1:0,5:5:15:169,15,0:14	0|0:7,0:7:21:0,21,288:14
1	27426796	.	T	C	9057.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4266911;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4266911" target="_blank">rs4266911</a>;ExAC.Info.AC=114848;ExAC.Info.AN=118758;ExAC.Info.AF=0.967;ExAC.Info.AC_Het=3398;ExAC.Info.AC_Hom=52831;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2;snpeff.Amino_Acid_Change=c.*2A>G;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263980;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263980;SAVANT_GENE=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;SAVANT_INFO=-/56.1kb/12/4.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC9A1+c.*2A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27426796">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1309,117,0:74	1|1:0,48:48:99:1666,144,0:74	1|1:0,25:25:75:823,75,0:74
1	27427041	.	T	C	28677.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4418629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4418629" target="_blank">rs4418629</a>;ExAC.Info.AC=122792;ExAC.Info.AN=126704;ExAC.Info.AF=0.969;ExAC.Info.AC_Het=3704;ExAC.Info.AC_Hom=59528;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2205T>C;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263980;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2205T>C;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263980;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2205T>C;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263980;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2205T>C;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263980;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2205T>C;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263980;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2205T>C;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263980;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2205T>C;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263980;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu735Glu/c.2205A>G;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263980;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263980;SAVANT_GENE=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;SAVANT_INFO=-/56.1kb/12/4.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2205A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC9A1+c.2205A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27427041">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:4108,357,0:127	1|1:0,120:120:99:4325,361,0:127	1|1:0,97:97:99:3384,291,0:127
1	27480757	.	A	G	6390.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs34306208;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34306208" target="_blank">rs34306208</a>;ExAC.Info.AC=38674;ExAC.Info.AN=126686;ExAC.Info.AF=0.305;ExAC.Info.AC_Het=25554;ExAC.Info.AC_Hom=6494;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.69A>G;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263980;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val23Val/c.69T>C;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263980;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263980;SAVANT_GENE=SLC9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A1" target="_blank">SLC9A1</a>;SAVANT_INFO=-/56.1kb/12/4.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.69T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC9A1+c.69T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27480757">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,49:102:99:1422,0,1415:127	0|0:123,0:123:99:0,370,4276:127	1|0:50,49:99:99:1423,0,1301:127
1	27660568	.	G	A	4412.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=321;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35771571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35771571" target="_blank">rs35771571</a>;ExAC.Info.AC=48847;ExAC.Info.AN=126674;ExAC.Info.AF=0.386;ExAC.Info.AC_Het=29131;ExAC.Info.AC_Hom=9746;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.408+23G>A;snpeff.Amino_Acid_length=208;snpeff.Gene_Name=TMEM222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM222" target="_blank">TMEM222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374076;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.409G>A;snpeff.Amino_Acid_length=208;snpeff.Gene_Name=TMEM222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM222" target="_blank">TMEM222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374076;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.409G>A;snpeff.Amino_Acid_length=208;snpeff.Gene_Name=TMEM222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM222" target="_blank">TMEM222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374076;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.409G>A;snpeff.Amino_Acid_length=208;snpeff.Gene_Name=TMEM222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM222" target="_blank">TMEM222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374076;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.409G>A;snpeff.Amino_Acid_length=208;snpeff.Gene_Name=TMEM222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM222" target="_blank">TMEM222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374076;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374076;SAVANT_GENE=TMEM222;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM222" target="_blank">TMEM222</a>;SAVANT_INFO=+/14.2kb/6/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.408+23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM222+c.408+23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27660568">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,312,3541:127	0|1:57,70:127:99:2225,0,1626:127	0|0:90,0:90:99:0,271,3291:127
1	27676026	.	G	A	360.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs199866369;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199866369" target="_blank">rs199866369</a>;ExAC.Info.AC=9;ExAC.Info.AN=75260;ExAC.Info.AF=1.196e-04;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.633+37G>A;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543823;SAVANT_GENE=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;SAVANT_INFO=+/9.1kb/14/2.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.633+37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYTL1+c.633+37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27676026">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,561:41	0|1:11,8:19:99:199,0,311:41	0|0:19,0:19:57:0,57,630:41
1	27676125	.	C	T	3809.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12122380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12122380" target="_blank">rs12122380</a>;ExAC.Info.AC=452;ExAC.Info.AN=124932;ExAC.Info.AF=3.618e-03;ExAC.Info.AC_Het=346;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.634-18C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543823;SAVANT_GENE=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;SAVANT_INFO=+/9.1kb/14/2.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.634-18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYTL1+c.634-18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27676125">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,22:53:99:606,0,928:127	0|0:89,0:89:99:0,268,3239:127	1|0:39,30:69:99:837,0,1129:127
1	27676289	.	G	T	1744.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ExAC.Info.AC=1463;ExAC.Info.AN=120242;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=2242;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.747+33G>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.748G>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.748G>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543823;SAVANT_GENE=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;SAVANT_INFO=+/9.1kb/14/2.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.747+33G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYTL1+c.747+33G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27676289">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,175,2089:127	0|1:38,31:69:99:891,0,1205:127	0|0:51,0:51:99:0,152,1886:127
1	27676925	.	G	A	6146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=762;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6702341;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702341" target="_blank">rs6702341</a>;ExAC.Info.AC=39845;ExAC.Info.AN=126700;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=26200;ExAC.Info.AC_Hom=6806;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954G>A;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954G>A;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954G>A;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys318Lys/c.954G>A;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543823;SAVANT_GENE=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;SAVANT_INFO=+/9.1kb/14/2.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.954G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYTL1+c.954G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27676925">View</a>	GT:AD:DP:GQ:PL:TP	0|0:262,0:262:99:0,787,9358:127	0|1:159,115:274:99:3092,0,4755:127	0|0:226,0:226:99:0,679,8287:127
1	27679797	.	A	G	12988.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3813795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813795" target="_blank">rs3813795</a>;ExAC.Info.AC=72648;ExAC.Info.AN=125666;ExAC.Info.AF=0.578;ExAC.Info.AC_Het=20838;ExAC.Info.AC_Hom=18179;snpeff.Effect=sequence_feature[domain:C2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1367A>G;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1367A>G;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1367A>G;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln456Arg/c.1367A>G;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543823;SAVANT_GENE=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;SAVANT_INFO=+/9.1kb/14/2.2kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1367A>G_p.Gln456Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYTL1+c.1367A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27679797">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,31:67:99:761,0,941:127	1|1:0,108:108:99:3547,324,0:127	0|1:46,45:91:99:1222,0,1233:127
1	27680292	.	A	G	7367.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs8533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8533" target="_blank">rs8533</a>;ExAC.Info.AC=78851;ExAC.Info.AN=126680;ExAC.Info.AF=0.622;ExAC.Info.AC_Het=26110;ExAC.Info.AC_Hom=26283;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu546Glu/c.1638A>G;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543823;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543823;SAVANT_GENE=SYTL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYTL1" target="_blank">SYTL1</a>;SAVANT_INFO=+/9.1kb/14/2.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1638A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYTL1+c.1638A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27680292">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,18:37:99:527,0,519:127	1|1:0,53:53:99:1831,159,0:127	0|1:23,30:53:99:849,0,586:127
1	27682440	.	T	TG	7293.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=166;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs36035221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36035221" target="_blank">rs36035221</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3711+77_3711+76insC;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357582;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000493901;SAVANT_GENE=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;SAVANT_INFO=-/11.7kb/30/4.3kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.3711+76_3711+77insC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAP3K6+c.3711+76_3711+77insC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27682440">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,26:44:99:915,0,596:127	0/1:34,35:69:99:1192,0,1162:127	0/1:28,25:53:99:851,0,971:127
1	27682481	.	G	A	7634.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=211;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12569127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12569127" target="_blank">rs12569127</a>;ExAC.Info.AC=33281;ExAC.Info.AN=126696;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=23665;ExAC.Info.AC_Hom=4719;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3711+36C>T;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357582;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000493901;SAVANT_GENE=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;SAVANT_INFO=-/11.7kb/30/4.3kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.3711+36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAP3K6+c.3711+36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27682481">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,36:58:99:966,0,574:127	0/1:42,48:90:99:1386,0,1133:127	0/1:31,32:63:99:952,0,935:127
1	27687366	.	C	G	2048.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35733093;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35733093" target="_blank">rs35733093</a>;ExAC.Info.AC=40291;ExAC.Info.AN=125480;ExAC.Info.AF=0.321;ExAC.Info.AC_Het=24712;ExAC.Info.AC_Hom=6701;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1921-37G>C;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357582;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000493901;SAVANT_GENE=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;SAVANT_INFO=-/11.7kb/30/4.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1921-37G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAP3K6+c.1921-37G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27687366">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1921:127	0|1:30,37:67:99:1043,0,915:127	0|0:55,0:55:99:0,165,1920:127
1	27687466	.	G	T	3449.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35659744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35659744" target="_blank">rs35659744</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=27773;ExAC.Info.AN=125410;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=18859;ExAC.Info.AC_Hom=3373;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaC/aaA;snpeff.Amino_Acid_Change=p.Asn622Lys/c.1866C>A;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357582;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000493901;SAVANT_GENE=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;SAVANT_INFO=-/11.7kb/30/4.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1866C>A_p.Asn622Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAP3K6+c.1866C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27687466">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,27:37:99:757,0,251:127	0/1:23,17:40:99:502,0,700:127	0/1:7,12:19:99:388,0,228:127
1	27688633	.	G	A	3698.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1138294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1138294" target="_blank">rs1138294</a>;ExAC.Info.AC=41577;ExAC.Info.AN=126654;ExAC.Info.AF=0.328;ExAC.Info.AC_Het=26443;ExAC.Info.AC_Hom=7381;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aTc;snpeff.Amino_Acid_Change=p.Thr455Ile/c.1364C>T;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357582;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000493901;SAVANT_GENE=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;SAVANT_INFO=-/11.7kb/30/4.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1364C>T_p.Thr455Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAP3K6+c.1364C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27688633">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2914:127	0|1:30,63:93:99:1868,0,918:127	0|0:88,0:88:99:0,265,3194:127
1	27690644	.	A	G	5083.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12727507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12727507" target="_blank">rs12727507</a>;ExAC.Info.AC=41115;ExAC.Info.AN=126408;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=24322;ExAC.Info.AC_Hom=7513;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.695+51T>C;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357582;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000493901;SAVANT_GENE=MAP3K6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K6" target="_blank">MAP3K6</a>;SAVANT_INFO=-/11.7kb/30/4.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.695+51T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAP3K6+c.695+51T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27690644">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,28:48:99:762,0,481:127	0/1:25,28:53:99:815,0,764:127	0/1:12,19:31:99:507,0,321:127
1	27696011	.	C	T	42502.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=520;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Immunodeficiency_due_to_ficolin_3_deficiency|_613860_(3);dbSNP139.ID=rs10218730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10218730" target="_blank">rs10218730</a>;ExAC.Info.AC=126294;ExAC.Info.AN=126596;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=284;ExAC.Info.AC_Hom=61573;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.659-43G>A;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=FCN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCN3" target="_blank">FCN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270879;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=FCN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCN3" target="_blank">FCN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270879;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=FCN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCN3" target="_blank">FCN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270879;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=FCN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCN3" target="_blank">FCN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270879;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=FCN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCN3" target="_blank">FCN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270879;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=FCN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCN3" target="_blank">FCN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270879;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270879;SAVANT_GENE=FCN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCN3" target="_blank">FCN3</a>;SAVANT_INFO=-/5.7kb/8/1.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.659-43G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCN3+c.659-43G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27696011">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,180:180:99:6418,541,0:127	1|1:0,175:175:99:6311,526,0:127	1|1:0,165:165:99:6129,496,0:127
1	27709138	.	A	G	1829.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=59;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs79961070;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79961070" target="_blank">rs79961070</a>;ExAC.Info.AC=1632;ExAC.Info.AN=126696;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1587;ExAC.Info.AC_Hom=15;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108A>G;snpeff.Amino_Acid_length=174;snpeff.Gene_Name=CD164L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD164L2" target="_blank">CD164L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374030;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108A>G;snpeff.Amino_Acid_length=174;snpeff.Gene_Name=CD164L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD164L2" target="_blank">CD164L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374030;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108A>G;snpeff.Amino_Acid_length=174;snpeff.Gene_Name=CD164L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD164L2" target="_blank">CD164L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374030;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108A>G;snpeff.Amino_Acid_length=174;snpeff.Gene_Name=CD164L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD164L2" target="_blank">CD164L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108A>G;snpeff.Amino_Acid_length=174;snpeff.Gene_Name=CD164L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD164L2" target="_blank">CD164L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe36Phe/c.108T>C;snpeff.Amino_Acid_length=174;snpeff.Gene_Name=CD164L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD164L2" target="_blank">CD164L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374030;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374027;SAVANT_GENE=CD164L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD164L2" target="_blank">CD164L2</a>;SAVANT_INFO=-/4.1kb/5/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.108T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD164L2+c.108T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27709138">View</a>	GT:AD:DP:GQ:PL:TP	0/1:6,7:13:99:197,0,167:95	0/1:10,12:22:99:371,0,265:95	0/1:20,4:24:95:95,0,594:95
1	27720353	.	C	A	1948.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11586015;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11586015" target="_blank">rs11586015</a>;ExAC.Info.AC=1659;ExAC.Info.AN=126660;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1604;ExAC.Info.AC_Hom=12;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.51C>A;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=GPR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR3" target="_blank">GPR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374024;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly17Gly/c.51C>A;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=GPR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR3" target="_blank">GPR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374024;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374024;SAVANT_GENE=GPR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR3" target="_blank">GPR3</a>;SAVANT_INFO=+/3.2kb/2/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.51C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR3+c.51C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27720353">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,1:67:99:0,165,2376:127	0|1:53,36:89:99:993,0,1638:127	0|0:48,0:48:99:0,144,1758:127
1	27875363	.	G	A	2000.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs149242867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149242867" target="_blank">rs149242867</a>;ExAC.Info.AC=913;ExAC.Info.AN=126152;ExAC.Info.AF=7.237e-03;ExAC.Info.AC_Het=884;ExAC.Info.AC_Hom=7;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser1088Ser/c.3264C>T;snpeff.Amino_Acid_length=1603;snpeff.Gene_Name=AHDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHDC1" target="_blank">AHDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374011;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374011;SAVANT_GENE=AHDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHDC1" target="_blank">AHDC1</a>;SAVANT_INFO=-/69.3kb/7/6.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.3264C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AHDC1+c.3264C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27875363">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,205,2643:127	0|0:77,0:77:99:0,232,2942:127	0|1:33,31:64:99:1019,0,979:127
1	27875824	.	C	T	18803.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4908364;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4908364" target="_blank">rs4908364</a>;ExAC.Info.AC=126010;ExAC.Info.AN=126558;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=530;ExAC.Info.AC_Hom=62064;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala935Thr/c.2803G>A;snpeff.Amino_Acid_length=1603;snpeff.Gene_Name=AHDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHDC1" target="_blank">AHDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374011;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374011;SAVANT_GENE=AHDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHDC1" target="_blank">AHDC1</a>;SAVANT_INFO=-/69.3kb/7/6.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.2803G>A_p.Ala935Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AHDC1+c.2803G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27875824">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2261,201,0:127	1|1:1,64:65:99:2242,185,0:127	1|1:0,71:71:99:2525,213,0:127
1	27876482	.	C	A	10637.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2076457;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076457" target="_blank">rs2076457</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=85189;ExAC.Info.AN=126386;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=25184;ExAC.Info.AC_Hom=28874;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccT;snpeff.Amino_Acid_Change=p.Pro715Pro/c.2145G>T;snpeff.Amino_Acid_length=1603;snpeff.Gene_Name=AHDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHDC1" target="_blank">AHDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374011;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374011;SAVANT_GENE=AHDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHDC1" target="_blank">AHDC1</a>;SAVANT_INFO=-/69.3kb/7/6.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.2145G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AHDC1+c.2145G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27876482">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,39:68:99:1073,0,760:127	0|1:41,46:87:99:1359,0,1061:127	1|1:1,63:64:99:2156,153,0:127
1	27995077	.	G	T	9413.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs56015130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56015130" target="_blank">rs56015130</a>;ExAC.Info.AC=106907;ExAC.Info.AN=120370;ExAC.Info.AF=0.888;ExAC.Info.AC_Het=3204;ExAC.Info.AC_Hom=20298;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.95-31C>A;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=IFI6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI6" target="_blank">IFI6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339145;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339145;SAVANT_GENE=IFI6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI6" target="_blank">IFI6</a>;SAVANT_INFO=-/6.1kb/5/0.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.95-31C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI6+c.95-31C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:27995077">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1412,120,0:112	1|1:0,38:38:99:1397,114,0:112	1|1:0,39:39:99:1406,117,0:112
1	28157446	.	T	G	5957.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41284290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41284290" target="_blank">rs41284290</a>;ExAC.Info.AC=4176;ExAC.Info.AN=112074;ExAC.Info.AF=0.037;ExAC.Info.AC_Het=1126;ExAC.Info.AC_Hom=45;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.56+44T>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=PPP1R8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R8" target="_blank">PPP1R8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311772;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDC5L_SF3B1_and_MELK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57T>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=PPP1R8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R8" target="_blank">PPP1R8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311772;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDC5L_SF3B1_and_MELK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57T>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=PPP1R8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R8" target="_blank">PPP1R8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311772;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDC5L_SF3B1_and_MELK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57T>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=PPP1R8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R8" target="_blank">PPP1R8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311772;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDC5L_SF3B1_and_MELK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57T>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=PPP1R8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R8" target="_blank">PPP1R8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311772;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311772;SAVANT_GENE=PPP1R8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R8" target="_blank">PPP1R8</a>;SAVANT_INFO=+/20.9kb/7/2.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.56+44T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPP1R8+c.56+44T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28157446">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,26:48:99:919,0,602:127	1|0:33,40:73:99:1362,0,987:127	0|0:49,0:49:99:0,147,1802:127
1	28209305	.	A	G	14188.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs3766398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766398" target="_blank">rs3766398</a>;ExAC.Info.AC=73960;ExAC.Info.AN=125426;ExAC.Info.AF=0.590;ExAC.Info.AC_Het=28316;ExAC.Info.AC_Hom=22797;snpeff.Effect=sequence_feature[region_of_interest:CABIT_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470A>G;snpeff.Amino_Acid_length=643;snpeff.Gene_Name=THEMIS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEMIS2" target="_blank">THEMIS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373921;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu490Leu/c.1470A>G;snpeff.Amino_Acid_length=643;snpeff.Gene_Name=THEMIS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEMIS2" target="_blank">THEMIS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373921;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373921;SAVANT_GENE=C1orf38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf38" target="_blank">C1orf38</a>;SAVANT_INFO=+/14.1kb/6/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1470A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf38+c.1470A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28209305">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2341,207,0:127	1|0:49,37:86:99:1145,0,1472:127	1|1:0,66:66:99:2281,198,0:127
1	28209362	.	T	C	17177.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3766399;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766399" target="_blank">rs3766399</a>;ExAC.Info.AC=73977;ExAC.Info.AN=125356;ExAC.Info.AF=0.590;ExAC.Info.AC_Het=28399;ExAC.Info.AC_Hom=22751;snpeff.Effect=sequence_feature[region_of_interest:CABIT_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1527T>C;snpeff.Amino_Acid_length=643;snpeff.Gene_Name=THEMIS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEMIS2" target="_blank">THEMIS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373921;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val509Val/c.1527T>C;snpeff.Amino_Acid_length=643;snpeff.Gene_Name=THEMIS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEMIS2" target="_blank">THEMIS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373921;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373921;SAVANT_GENE=C1orf38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf38" target="_blank">C1orf38</a>;SAVANT_INFO=+/14.1kb/6/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1527T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf38+c.1527T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28209362">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:2190,150,0:127	1|0:34,30:64:99:1186,0,1412:127	1|1:0,69:69:99:3051,208,0:127
1	28209366	.	A	G	16427.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3766400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766400" target="_blank">rs3766400</a>;ExAC.Info.AC=73007;ExAC.Info.AN=125362;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=27961;ExAC.Info.AC_Hom=22486;snpeff.Effect=sequence_feature[region_of_interest:CABIT_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1531A>G;snpeff.Amino_Acid_length=643;snpeff.Gene_Name=THEMIS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEMIS2" target="_blank">THEMIS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373921;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys511Glu/c.1531A>G;snpeff.Amino_Acid_length=643;snpeff.Gene_Name=THEMIS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEMIS2" target="_blank">THEMIS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373921;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373921;SAVANT_GENE=C1orf38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf38" target="_blank">C1orf38</a>;SAVANT_INFO=+/14.1kb/6/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1531A>G_p.Lys511Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf38+c.1531A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28209366">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:2174,147,0:127	1|0:36,31:67:99:1163,0,1409:127	1|1:0,61:61:99:2788,187,0:127
1	28261593	.	T	C	6691.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3737809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737809" target="_blank">rs3737809</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=102;snpeff.Amino_Acid_Change=c.-102T>C;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPDL3B" target="_blank">SMPDL3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373894;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373894;SAVANT_GENE=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPDL3B" target="_blank">SMPDL3B</a>;SAVANT_INFO=+/24.2kb/8/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-102T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPDL3B+c.-102T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28261593">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:78:1168,78,0:65	1|0:24,12:36:99:432,0,971:65	1|1:0,20:20:66:964,66,0:65
1	28261600	.	A	C	7322.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3737808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737808" target="_blank">rs3737808</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=95;snpeff.Amino_Acid_Change=c.-95A>C;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPDL3B" target="_blank">SMPDL3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373894;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373894;SAVANT_GENE=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPDL3B" target="_blank">SMPDL3B</a>;SAVANT_INFO=+/24.2kb/8/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-95A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPDL3B+c.-95A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28261600">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1426,96,0:65	1|0:23,15:38:99:535,0,921:65	1|1:0,21:21:66:979,66,0:65
1	28261658	.	T	TG	11009.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3831926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3831926" target="_blank">rs3831926</a>;ExAC.Info.AC=53492;ExAC.Info.AN=126652;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=29507;ExAC.Info.AC_Hom=11516;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=36;snpeff.Amino_Acid_Change=c.-36_-37insG;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPDL3B" target="_blank">SMPDL3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373894;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373894;SAVANT_GENE=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPDL3B" target="_blank">SMPDL3B</a>;SAVANT_INFO=+/24.2kb/8/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-36dupG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPDL3B+c.-36dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28261658">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1893,153,0:127	1|0:38,31:69:99:952,0,1203:127	1|1:0,43:43:99:1647,135,0:127
1	28268706	.	G	A	10552.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4908341;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4908341" target="_blank">rs4908341</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.287-3116C>T;snpeff.Gene_Name=RP11-460I13.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-460I132" target="_blank">RP11-460I132</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000448015;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.62-3037G>A;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-460I132" target="_blank">RP11-460I132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373894;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373894;SAVANT_GENE=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPDL3B" target="_blank">SMPDL3B</a>;SAVANT_INFO=+/24.2kb/8/1.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.62-3037G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPDL3B+c.62-3037G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28268706">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1444,129,0:127	1|0:23,24:47:99:719,0,645:127	1|1:1,54:55:99:1878,155,0:127
1	28268829	.	T	TC	1207.71	VQSRTrancheINDEL99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs138466566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138466566" target="_blank">rs138466566</a>;ExAC.Info.AC=4042;ExAC.Info.AN=15876;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=2605;ExAC.Info.AC_Hom=389;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.287-3239_287-3240insG;snpeff.Gene_Name=RP11-460I13.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-460I132" target="_blank">RP11-460I132</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000448015;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.62-2913_62-2912insC;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-460I132" target="_blank">RP11-460I132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373894;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373894;SAVANT_GENE=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPDL3B" target="_blank">SMPDL3B</a>;SAVANT_INFO=+/24.2kb/8/1.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.62-2909dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPDL3B+c.62-2909dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28268829">View</a>	GT:AD:DP:GQ:PL:TP	0|0:22,0:22:76:0,76,849:70	0|1:12,22:34:99:627,0,430:70	0|0:20,0:20:72:0,72,706:70
1	28268833	.	C	CG	7414.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs11386058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11386058" target="_blank">rs11386058</a>;ExAC.Info.AC=10558;ExAC.Info.AN=21702;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=3956;ExAC.Info.AC_Hom=2668;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.287-3243_287-3244insC;snpeff.Gene_Name=RP11-460I13.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-460I132" target="_blank">RP11-460I132</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000448015;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.62-2909_62-2908insG;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-460I132" target="_blank">RP11-460I132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373894;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373894;SAVANT_GENE=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPDL3B" target="_blank">SMPDL3B</a>;SAVANT_INFO=+/24.2kb/8/1.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.62-2910_62-2909insG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPDL3B+c.62-2910_62-2909insG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28268833">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1294,120,0:107	1|0:23,20:43:99:474,0,647:107	1|1:0,37:37:99:1055,108,0:107
1	28268835	.	A	C	13996.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5018921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5018921" target="_blank">rs5018921</a>;ExAC.Info.AC=14600;ExAC.Info.AN=21044;ExAC.Info.AF=0.694;ExAC.Info.AC_Het=3131;ExAC.Info.AC_Hom=4773;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.287-3245T>G;snpeff.Gene_Name=RP11-460I13.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-460I132" target="_blank">RP11-460I132</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000448015;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.62-2908A>C;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-460I132" target="_blank">RP11-460I132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373894;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373894;SAVANT_GENE=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPDL3B" target="_blank">SMPDL3B</a>;SAVANT_INFO=+/24.2kb/8/1.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.62-2908A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPDL3B+c.62-2908A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28268835">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1793,123,0:113	1|1:0,41:41:99:1865,126,0:113	1|1:0,35:35:99:1636,114,0:113
1	28282206	.	C	T	494.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3813804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813804" target="_blank">rs3813804</a>;ExAC.Info.AC=33766;ExAC.Info.AN=126694;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=24397;ExAC.Info.AC_Hom=4658;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.286+76G>A;snpeff.Gene_Name=RP11-460I13.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-460I132" target="_blank">RP11-460I132</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000448015;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val234Val/c.702C>T;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-460I132" target="_blank">RP11-460I132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373894;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373894;SAVANT_GENE=SMPDL3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPDL3B" target="_blank">SMPDL3B</a>;SAVANT_INFO=+/24.2kb/8/1.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.702C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPDL3B+c.702C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28282206">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,1021:80	0|1:20,10:30:99:266,0,682:80	0|0:29,0:29:87:0,87,1108:80
1	28290231	.	C	G	3457.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4373781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4373781" target="_blank">rs4373781</a>;ExAC.Info.AC=95538;ExAC.Info.AN=107274;ExAC.Info.AF=0.891;ExAC.Info.AC_Het=2061;ExAC.Info.AC_Hom=11135;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.490+27C>G;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=XKR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XKR8" target="_blank">XKR8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373884;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.491C>G;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=XKR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XKR8" target="_blank">XKR8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373884;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.491C>G;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=XKR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XKR8" target="_blank">XKR8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373884;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373884;SAVANT_GENE=XKR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XKR8" target="_blank">XKR8</a>;SAVANT_INFO=+/8.6kb/3/2.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.490+27C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XKR8+c.490+27C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28290231">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:586,45,0:35	1|1:0,18:18:54:714,54,0:35	1|1:0,12:12:36:456,36,0:35
1	28369213	.	TA	T	8775.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=486;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs111559121;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111559121" target="_blank">rs111559121</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.78-53delT;snpeff.Amino_Acid_length=573;snpeff.Gene_Name=EYA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EYA3" target="_blank">EYA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373871;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373871;SAVANT_GENE=EYA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EYA3" target="_blank">EYA3</a>;SAVANT_INFO=-/118.4kb/18/6.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.78-53delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EYA3+c.78-53delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28369213">View</a>	GT:AD:DP:GQ:PL:TP	1|0:83,69:152:99:1751,0,2238:127	0|0:179,0:179:99:0,538,5824:127	1|0:89,66:155:99:1645,0,2434:127
1	28374815	.	C	T	2292.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7541031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7541031" target="_blank">rs7541031</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.77+79G>A;snpeff.Amino_Acid_length=573;snpeff.Gene_Name=EYA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EYA3" target="_blank">EYA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373871;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373871;SAVANT_GENE=EYA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EYA3" target="_blank">EYA3</a>;SAVANT_INFO=-/118.4kb/18/6.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.77+79G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EYA3+c.77+79G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28374815">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,14:25:99:410,0,314:68	1|1:0,23:23:69:790,69,0:68	0|0:28,0:28:84:0,84,989:68
1	28527011	.	A	G	9374.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1049504;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1049504" target="_blank">rs1049504</a>;ExAC.Info.AC=5479;ExAC.Info.AN=18838;ExAC.Info.AF=0.291;ExAC.Info.AC_Het=3249;ExAC.Info.AC_Hom=862;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DNAJC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC8" target="_blank">DNAJC8</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC8" target="_blank">DNAJC8</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC8+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28527011">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,41:92:99:1108,0,1345:127	0/1:48,62:110:99:1703,0,1405:127	0/1:34,54:88:99:1429,0,914:127
1	28555579	.	C	A	1950.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3753863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753863" target="_blank">rs3753863</a>;ExAC.Info.AC=26468;ExAC.Info.AN=124958;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=19511;ExAC.Info.AC_Hom=2737;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.79-45G>T;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=DNAJC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC8" target="_blank">DNAJC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263697;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263697;SAVANT_GENE=DNAJC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC8" target="_blank">DNAJC8</a>;SAVANT_INFO=-/32.5kb/9/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.79-45G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC8+c.79-45G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28555579">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1877:127	0|1:25,38:63:99:994,0,646:127	0|0:67,0:67:99:0,201,2272:127
1	28559574	.	C	G	6714.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs510803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=510803" target="_blank">rs510803</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=510803" target="_blank">rs510803</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28559574">View</a>	GT:AD:DP:GQ:PL:TP	0/1:40,36:76:99:1003,0,1114:127	0/1:57,41:98:99:1089,0,1692:127	0/1:34,26:60:99:754,0,1054:127
1	28562676	.	A	G	5538.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12154;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12154" target="_blank">rs12154</a>;ExAC.Info.AC=37093;ExAC.Info.AN=126550;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=24212;ExAC.Info.AC_Hom=6203;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=19;snpeff.Amino_Acid_Change=c.-19A>G;snpeff.Amino_Acid_length=106;snpeff.Gene_Name=ATPIF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPIF1" target="_blank">ATPIF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335514;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335514;SAVANT_GENE=ATPIF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPIF1" target="_blank">ATPIF1</a>;SAVANT_INFO=+/2.0kb/3/0.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-19A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATPIF1+c.-19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28562676">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,25:51:99:750,0,719:127	0/1:22,28:50:99:919,0,634:127	0/1:35,21:56:99:629,0,993:127
1	28563008	.	G	T	1640.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2232720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232720" target="_blank">rs2232720</a>;ExAC.Info.AC=2930;ExAC.Info.AN=126586;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2795;ExAC.Info.AC_Hom=44;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.179+45G>T;snpeff.Amino_Acid_length=106;snpeff.Gene_Name=ATPIF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPIF1" target="_blank">ATPIF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335514;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335514;SAVANT_GENE=ATPIF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPIF1" target="_blank">ATPIF1</a>;SAVANT_INFO=+/2.0kb/3/0.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.179+45G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATPIF1+c.179+45G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28563008">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1621:127	0|0:67,0:67:99:0,201,2321:127	0|1:32,29:61:99:839,0,979:127
1	28564252	.	A	G	6980.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs8559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8559" target="_blank">rs8559</a>;ExAC.Info.AC=43557;ExAC.Info.AN=126686;ExAC.Info.AF=0.344;ExAC.Info.AC_Het=26158;ExAC.Info.AC_Hom=8348;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.180-96A>G;snpeff.Amino_Acid_length=106;snpeff.Gene_Name=ATPIF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPIF1" target="_blank">ATPIF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335514;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335514;SAVANT_GENE=ATPIF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPIF1" target="_blank">ATPIF1</a>;SAVANT_INFO=+/2.0kb/3/0.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.180-96A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATPIF1+c.180-96A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28564252">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,26:62:99:791,0,974:127	0/1:46,38:84:99:1229,0,1380:127	0/1:38,33:71:99:1003,0,1146:127
1	28564279	.	A	G	10589.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9508" target="_blank">rs9508</a>;ExAC.Info.AC=37271;ExAC.Info.AN=126700;ExAC.Info.AF=0.294;ExAC.Info.AC_Het=24634;ExAC.Info.AC_Hom=6236;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.180-69A>G;snpeff.Amino_Acid_length=106;snpeff.Gene_Name=ATPIF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPIF1" target="_blank">ATPIF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335514;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335514;SAVANT_GENE=ATPIF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPIF1" target="_blank">ATPIF1</a>;SAVANT_INFO=+/2.0kb/3/0.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.180-69A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATPIF1+c.180-69A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28564279">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,46:89:99:1332,0,1224:127	0/1:67,55:122:99:1550,0,2077:127	0/1:54,54:108:99:1610,0,1622:127
1	28586376	.	C	G	1295.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34315986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34315986" target="_blank">rs34315986</a>;ExAC.Info.AC=1074;ExAC.Info.AN=81656;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=147;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcG;snpeff.Amino_Acid_Change=p.Ser6Ser/c.18C>G;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=SESN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SESN2" target="_blank">SESN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000253063;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000253063;SAVANT_GENE=SESN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SESN2" target="_blank">SESN2</a>;SAVANT_INFO=+/23.0kb/10/3.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.18C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SESN2+c.18C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28586376">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1607:127	0|1:30,24:54:99:667,0,794:127	0|0:44,0:44:99:0,132,1572:127
1	28598110	.	C	G	11289.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=604;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs67068635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67068635" target="_blank">rs67068635</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.157-75C>G;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=SESN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SESN2" target="_blank">SESN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000253063;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000253063;SAVANT_GENE=SESN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SESN2" target="_blank">SESN2</a>;SAVANT_INFO=+/23.0kb/10/3.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.157-75C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SESN2+c.157-75C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28598110">View</a>	GT:AD:DP:GQ:PL:TP	1|0:93,75:168:99:1982,0,2745:127	0|0:242,0:242:99:0,727,8449:127	1|0:95,99:194:99:2618,0,2694:127
1	28696392	.	C	G	4338.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6703793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6703793" target="_blank">rs6703793</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PHACTR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHACTR4" target="_blank">PHACTR4</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHACTR4" target="_blank">PHACTR4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHACTR4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28696392">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,29:52:99:826,0,565:127	0|0:65,0:65:99:0,195,2306:127	1|0:29,30:59:99:847,0,790:127
1	28733993	.	G	T	5840.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12091029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12091029" target="_blank">rs12091029</a>;ExAC.Info.AC=38893;ExAC.Info.AN=125130;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=24928;ExAC.Info.AC_Hom=6956;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PHACTR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHACTR4" target="_blank">PHACTR4</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHACTR4" target="_blank">PHACTR4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHACTR4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28733993">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,40:93:99:1051,0,1577:127	0|0:116,0:116:99:0,348,3956:127	1|0:47,43:90:99:1189,0,1487:127
1	28800380	.	C	A	6061.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61785974;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61785974" target="_blank">rs61785974</a>;ExAC.Info.AC=33062;ExAC.Info.AN=125716;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=23593;ExAC.Info.AC_Hom=4697;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1168C>A;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=PHACTR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHACTR4" target="_blank">PHACTR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1168C>A;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=PHACTR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHACTR4" target="_blank">PHACTR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cta/Ata;snpeff.Amino_Acid_Change=p.Leu390Ile/c.1168C>A;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=PHACTR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHACTR4" target="_blank">PHACTR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373836;SAVANT_GENE=PHACTR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHACTR4" target="_blank">PHACTR4</a>;SAVANT_INFO=+/62.1kb/13/6.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1168C>A_p.Leu390Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHACTR4+c.1168C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28800380">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,59:95:99:1525,0,974:127	0|0:94,0:94:99:0,282,3241:127	1|0:41,42:83:99:1082,0,1348:127
1	28806965	.	G	C	1328.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72661785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72661785" target="_blank">rs72661785</a>;ExAC.Info.AC=1073;ExAC.Info.AN=125296;ExAC.Info.AF=8.564e-03;ExAC.Info.AC_Het=1060;ExAC.Info.AC_Hom=6;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639G>C;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=PHACTR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHACTR4" target="_blank">PHACTR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Cct;snpeff.Amino_Acid_Change=p.Ala547Pro/c.1639G>C;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=PHACTR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHACTR4" target="_blank">PHACTR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373836;SAVANT_GENE=PHACTR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHACTR4" target="_blank">PHACTR4</a>;SAVANT_INFO=+/62.1kb/13/6.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1639G>C_p.Ala547Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHACTR4+c.1639G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28806965">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1368:104	0|0:59,0:59:99:0,178,2487:104	0|1:21,20:41:99:683,0,756:104
1	28832713	.	CT	C	143.47	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=60;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56695711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56695711" target="_blank">rs56695711</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SNHG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNHG3" target="_blank">SNHG3</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNHG3" target="_blank">SNHG3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNHG3" target="_blank">SNHG3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNHG3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28832713">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,9:21:99:126,0,263:30	1|0:18,4:22:28:28,0,419:30	0|0:15,2:17:31:0,31,383:30
1	28834586	.	G	A	4245.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41270839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270839" target="_blank">rs41270839</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1724G>A;snpeff.Gene_Name=SNHG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNHG3" target="_blank">SNHG3</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437681;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNHG3" target="_blank">SNHG3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNHG3" target="_blank">SNHG3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNHG3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28834586">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,32:56:99:870,0,722:127	0|0:72,0:72:99:0,216,2512:127	1|0:41,31:72:99:780,0,1251:127
1	28861636	.	G	A	8253.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=459;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2066726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066726" target="_blank">rs2066726</a>;ExAC.Info.AC=33384;ExAC.Info.AN=126704;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=23932;ExAC.Info.AC_Hom=4721;snpeff.Effect=sequence_feature[repeat:RCC1_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=RCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCC1" target="_blank">RCC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373831;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=RCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCC1" target="_blank">RCC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373831;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=RCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCC1" target="_blank">RCC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373831;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val203Val/c.609G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=RCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCC1" target="_blank">RCC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373831;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373831;SAVANT_GENE=RCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCC1" target="_blank">RCC1</a>;SAVANT_INFO=+/19.9kb/11/1.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.609G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCC1+c.609G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:28861636">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,50:129:99:1304,0,2452:127	0|0:192,0:192:99:0,577,7255:127	1|0:72,66:138:99:1750,0,2350:127
1	29063559	.	A	C	10246.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6697540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6697540" target="_blank">rs6697540</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=74;snpeff.Amino_Acid_Change=c.-74A>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=YTHDF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YTHDF2" target="_blank">YTHDF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373812;SAVANT_GENE=YTHDF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YTHDF2" target="_blank">YTHDF2</a>;SAVANT_INFO=+/33.0kb/5/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-74A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YTHDF2+c.-74A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29063559">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1163,96,0:99	1|1:0,34:34:99:1170,101,0:99	1|1:0,35:35:99:1189,105,0:99
1	29064036	.	C	T	2236.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs61787567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61787567" target="_blank">rs61787567</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.28-134C>T;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=YTHDF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YTHDF2" target="_blank">YTHDF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373812;SAVANT_GENE=YTHDF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YTHDF2" target="_blank">YTHDF2</a>;SAVANT_INFO=+/33.0kb/5/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.28-134C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YTHDF2+c.28-134C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29064036">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2122:127	0|1:37,20:57:99:548,0,1154:127	0|1:22,21:43:99:590,0,703:127
1	29138975	.	G	T	3612.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1042114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1042114" target="_blank">rs1042114</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Opioid_dependence|_association_with;hgmd_2014.2.OMIM_ID=165195;hgmd_2014.2.PubMed=17622222;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17622222" target="_blank">17622222</a>;ExAC.Info.AC=90759;ExAC.Info.AN=103404;ExAC.Info.AF=0.878;ExAC.Info.AC_Het=2048;ExAC.Info.AC_Hom=11131;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80G>T;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=OPRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPRD1" target="_blank">OPRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234961;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tTc;snpeff.Amino_Acid_Change=p.Cys27Phe/c.80G>T;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=OPRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPRD1" target="_blank">OPRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234961;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234961;SAVANT_GENE=OPRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPRD1" target="_blank">OPRD1</a>;SAVANT_INFO=+/51.6kb/3/1.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.80G>T_p.Cys27Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPRD1+c.80G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29138975">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,19:42:99:484,0,718:127	0/1:24,16:40:99:388,0,751:127	0/1:15,18:33:99:530,0,490:127
1	29139140	.	C	G	2386.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12133192;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12133192" target="_blank">rs12133192</a>;ExAC.Info.AC=23806;ExAC.Info.AN=122088;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=15327;ExAC.Info.AC_Hom=2075;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.227+18C>G;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=OPRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPRD1" target="_blank">OPRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234961;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>G;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=OPRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPRD1" target="_blank">OPRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234961;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>G;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=OPRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPRD1" target="_blank">OPRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234961;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234961;SAVANT_GENE=OPRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPRD1" target="_blank">OPRD1</a>;SAVANT_INFO=+/51.6kb/3/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.227+18C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPRD1+c.227+18C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29139140">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,234,2581:127	0|0:98,0:98:99:0,294,3093:127	0|1:32,43:75:99:1212,0,967:127
1	29189597	.	C	T	20759.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=411;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2234918;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234918" target="_blank">rs2234918</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=72291;ExAC.Info.AN=126352;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=27353;ExAC.Info.AC_Hom=20040;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.921C>T;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=OPRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPRD1" target="_blank">OPRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234961;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly307Gly/c.921C>T;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=OPRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPRD1" target="_blank">OPRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234961;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234961;SAVANT_GENE=OPRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPRD1" target="_blank">OPRD1</a>;SAVANT_INFO=+/51.6kb/3/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.921C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPRD1+c.921C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29189597">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,50:102:99:1386,0,1694:127	0|1:73,84:157:99:2248,0,2124:127	1|1:1,151:152:99:4825,412,0:127
1	29391396	.	A	G	15499.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Elliptocytosis-1|_611804_(3)|Elliptocytosis-1|_611804_(3);dbSNP139.ID=rs12070152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12070152" target="_blank">rs12070152</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2008-98A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spectrin--actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2008A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spectrin--actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2008A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spectrin--actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2008A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spectrin--actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2008A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spectrin--actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2008A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343067;SAVANT_GENE=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;SAVANT_INFO=+/232.9kb/21/5.9kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2008-98A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPB41+c.2008-98A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29391396">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,61:133:99:1841,0,1932:127	1|1:1,162:163:99:6013,452,0:127	0|0:150,0:150:99:0,451,5277:127
1	29411250	.	A	G	33998.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1015;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Elliptocytosis-1|_611804_(3)|Elliptocytosis-1|_611804_(3);dbSNP139.ID=rs6702335;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702335" target="_blank">rs6702335</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2185-13069A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal__CTD_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2185A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal__CTD_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2185A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal__CTD_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2185A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal__CTD_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2185A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal__CTD_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2185A>G;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343067;SAVANT_GENE=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;SAVANT_INFO=+/232.9kb/21/5.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2185-13069A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPB41+c.2185-13069A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29411250">View</a>	GT:AD:DP:GQ:PL:TP	1|0:166,146:312:99:4134,0,4359:127	0|0:372,1:373:99:0,1077,12475:127	1|1:0,330:330:99:11335,990,0:127
1	29439016	.	T	A	20661.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=646;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Elliptocytosis-1|_611804_(3)|Elliptocytosis-1|_611804_(3);dbSNP139.ID=rs4654390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4654390" target="_blank">rs4654390</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2496+56T>A;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal__CTD_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2497T>A;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal__CTD_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2497T>A;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal__CTD_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2497T>A;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal__CTD_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2497T>A;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal__CTD_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2497T>A;snpeff.Amino_Acid_length=864;snpeff.Gene_Name=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373798;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343067;SAVANT_GENE=EPB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPB41" target="_blank">EPB41</a>;SAVANT_INFO=+/232.9kb/21/5.9kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2496+56T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPB41+c.2496+56T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29439016">View</a>	GT:AD:DP:GQ:PL:TP	1|0:93,110:203:99:3238,0,2835:127	0|0:269,2:271:99:0,735,9828:127	1|1:0,172:172:99:6457,517,0:127
1	29475648	.	T	G	6409.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230679" target="_blank">rs2230679</a>;ExAC.Info.AC=103646;ExAC.Info.AN=126698;ExAC.Info.AF=0.818;ExAC.Info.AC_Het=17660;ExAC.Info.AC_Hom=42926;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg/Ser-rich__RS_domain_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759T>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=SRSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRSF4" target="_blank">SRSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373795;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg/Ser-rich__RS_domain_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759T>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=SRSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRSF4" target="_blank">SRSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373795;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg/Ser-rich__RS_domain_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759T>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=SRSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRSF4" target="_blank">SRSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373795;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaA/gaC;snpeff.Amino_Acid_Change=p.Glu253Asp/c.759A>C;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=SRSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRSF4" target="_blank">SRSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373795;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373795;SAVANT_GENE=SRSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRSF4" target="_blank">SRSF4</a>;SAVANT_INFO=-/34.2kb/6/2.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.759A>C_p.Glu253Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRSF4+c.759A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29475648">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,31:56:99:957,0,750:127	0|0:50,0:50:99:0,150,1859:127	1|1:0,45:45:99:1713,135,0:127
1	29486011	.	C	T	3519.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72649257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72649257" target="_blank">rs72649257</a>;ExAC.Info.AC=1087;ExAC.Info.AN=126698;ExAC.Info.AF=8.579e-03;ExAC.Info.AC_Het=1072;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.251-13G>A;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=SRSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRSF4" target="_blank">SRSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373795;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich__hinge_region_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.251C>T;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=SRSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRSF4" target="_blank">SRSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373795;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich__hinge_region_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.251C>T;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=SRSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRSF4" target="_blank">SRSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373795;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373795;SAVANT_GENE=SRSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRSF4" target="_blank">SRSF4</a>;SAVANT_INFO=-/34.2kb/6/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.251-13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRSF4+c.251-13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29486011">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,21:56:99:533,0,1059:127	0|0:62,0:62:99:0,186,2290:127	1|0:25,20:45:99:622,0,839:127
1	29529699	.	T	C	12100.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1062924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1062924" target="_blank">rs1062924</a>;ExAC.Info.AC=99125;ExAC.Info.AN=123884;ExAC.Info.AF=0.800;ExAC.Info.AC_Het=12571;ExAC.Info.AC_Hom=26174;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.597T>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=MECR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECR" target="_blank">MECR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263702;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala199Ala/c.597A>G;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=MECR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECR" target="_blank">MECR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263702;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263702;SAVANT_GENE=MECR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECR" target="_blank">MECR</a>;SAVANT_INFO=-/37.1kb/10/1.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.597A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MECR+c.597A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29529699">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,46:105:99:1194,0,1847:127	0|0:194,0:194:99:0,583,6496:127	1|1:0,104:104:99:3559,312,0:127
1	29542435	.	C	G	6393.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=68;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2640469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2640469" target="_blank">rs2640469</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.406+82G>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=MECR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECR" target="_blank">MECR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263702;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263702;SAVANT_GENE=MECR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECR" target="_blank">MECR</a>;SAVANT_INFO=-/37.1kb/10/1.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.406+82G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MECR+c.406+82G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29542435">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,14:14:42:554,42,0:44	1|1:0,39:39:99:1434,117,0:44	1|1:0,15:15:45:559,45,0:44
1	29542637	.	A	G	5400.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1128400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1128400" target="_blank">rs1128400</a>;ExAC.Info.AC=103546;ExAC.Info.AN=126704;ExAC.Info.AF=0.817;ExAC.Info.AC_Het=17774;ExAC.Info.AC_Hom=42875;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe96Leu/c.286T>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=MECR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECR" target="_blank">MECR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263702;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263702;SAVANT_GENE=MECR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECR" target="_blank">MECR</a>;SAVANT_INFO=-/37.1kb/10/1.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.286T>C_p.Phe96Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MECR+c.286T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29542637">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,16:34:99:421,0,517:127	0|0:86,0:86:99:0,258,2853:127	1|1:0,48:48:99:1576,144,0:127
1	29557224	.	C	T	11946.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2640466;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2640466" target="_blank">rs2640466</a>;ExAC.Info.AC=82360;ExAC.Info.AN=111706;ExAC.Info.AF=0.737;ExAC.Info.AC_Het=5843;ExAC.Info.AC_Hom=11230;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.176+19G>A;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=MECR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECR" target="_blank">MECR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263702;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=MECR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECR" target="_blank">MECR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263702;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=MECR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECR" target="_blank">MECR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263702;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263702;SAVANT_GENE=MECR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MECR" target="_blank">MECR</a>;SAVANT_INFO=-/37.1kb/10/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.176+19G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MECR+c.176+19G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29557224">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,55:116:99:1352,0,1713:127	0|0:151,0:151:99:0,454,5493:127	1|1:0,95:95:99:3231,285,0:127
1	29587407	.	A	C	2420.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72649292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72649292" target="_blank">rs72649292</a>;ExAC.Info.AC=157;ExAC.Info.AN=126062;ExAC.Info.AF=1.245e-03;ExAC.Info.AC_Het=151;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aCa;snpeff.Amino_Acid_Change=p.Lys379Thr/c.1136A>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345512;SAVANT_GENE=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;SAVANT_INFO=+/89.1kb/31/4.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1136A>C_p.Lys379Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRU+c.1136A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29587407">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1852:127	0|0:84,0:84:99:0,252,2764:127	0|1:44,38:82:99:1229,0,1295:127
1	29605646	.	C	T	2412.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72651203;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72651203" target="_blank">rs72651203</a>;ExAC.Info.AC=4216;ExAC.Info.AN=120164;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=1859;ExAC.Info.AC_Hom=61;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1563+13C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564C>T;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345512;SAVANT_GENE=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;SAVANT_INFO=+/89.1kb/31/4.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1563+13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRU+c.1563+13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29605646">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2618:127	0|1:36,43:79:99:1225,0,1025:127	0|0:60,0:60:99:0,180,2142:127
1	29616318	.	C	A	4798.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2076620;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076620" target="_blank">rs2076620</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2348+94C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" 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target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" 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target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CTNNB1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CTNNB1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CTNNB1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CTNNB1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2349C>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345512;SAVANT_GENE=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;SAVANT_INFO=+/89.1kb/31/4.5kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2348+94C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRU+c.2348+94C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29616318">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,25:59:99:638,0,1082:127	1|0:43,41:84:99:1144,0,1298:127	0|0:69,0:69:99:0,207,2401:127
1	29618387	.	G	A	5193.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs116098859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=116098859" target="_blank">rs116098859</a>;ExAC.Info.AC=103;ExAC.Info.AN=126696;ExAC.Info.AF=8.130e-04;ExAC.Info.AC_Het=102;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" 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target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" 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target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CTNNB1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CTNNB1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CTNNB1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_CTNNB1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro785Pro/c.2355G>A;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345512;SAVANT_GENE=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;SAVANT_INFO=+/89.1kb/31/4.5kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2355G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRU+c.2355G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29618387">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,352,3974:127	0|1:92,91:183:99:2616,0,2439:127	0|0:117,0:117:99:0,351,3916:127
1	29631236	.	C	CTA	32262.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=686;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3831903;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3831903" target="_blank">rs3831903</a>;ExAC.Info.AC=61763;ExAC.Info.AN=125976;ExAC.Info.AF=0.490;ExAC.Info.AC_Het=22961;ExAC.Info.AC_Hom=13132;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2698-49_2698-48insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2698_2699insTA;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000345512;SAVANT_GENE=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;SAVANT_INFO=+/89.1kb/31/4.5kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2698-49_2698-48insAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRU+c.2698-49_2698-48insAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29631236">View</a>	GT:AD:DP:GQ:PL:TP	0|1:110,96:206:99:3781,0,4192:127	1|1:2,235:237:99:10520,637,0:127	0|0:243,0:243:99:0,732,10942:127
1	29649874	.	T	C	2858.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10915252;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10915252" target="_blank">rs10915252</a>;ExAC.Info.AC=49550;ExAC.Info.AN=126276;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=24912;ExAC.Info.AC_Hom=8341;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3859-9T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3859T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345512;SAVANT_GENE=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;SAVANT_INFO=+/89.1kb/31/4.5kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3859-9T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRU+c.3859-9T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29649874">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1428:123	0|1:26,28:54:99:842,0,744:123	0|1:18,18:36:99:607,0,494:123
1	29652068	.	T	C	3500.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=191;MQ=69.97;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2076618;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076618" target="_blank">rs2076618</a>;ExAC.Info.AC=52551;ExAC.Info.AN=126698;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=29628;ExAC.Info.AC_Hom=11394;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4279-43T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4279T>C;snpeff.Amino_Acid_length=1446;snpeff.Gene_Name=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345512;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345512;SAVANT_GENE=PTPRU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRU" target="_blank">PTPRU</a>;SAVANT_INFO=+/89.1kb/31/4.5kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.4279-43T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRU+c.4279-43T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:29652068">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2458:127	0|1:31,31:62:99:924,0,948:127	0|1:25,28:53:99:846,0,701:127
1	31186387	.	C	T	9655.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1746059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1746059" target="_blank">rs1746059</a>;ExAC.Info.AC=7666;ExAC.Info.AN=93528;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=2855;ExAC.Info.AC_Hom=439;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=42;snpeff.Amino_Acid_Change=c.*42G>A;snpeff.Amino_Acid_length=496;snpeff.Gene_Name=MATN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MATN1" target="_blank">MATN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373765;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373765;SAVANT_GENE=MATN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MATN1" target="_blank">MATN1</a>;SAVANT_INFO=-/12.3kb/8/3.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*42G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MATN1+c.*42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31186387">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,40:74:99:1063,0,954:127	0|0:72,0:72:99:0,216,2715:127	1|1:0,72:72:99:2580,216,0:127
1	31188901	.	A	G	11970.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs20566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=20566" target="_blank">rs20566</a>;ExAC.Info.AC=64810;ExAC.Info.AN=126704;ExAC.Info.AF=0.512;ExAC.Info.AC_Het=29543;ExAC.Info.AC_Hom=17630;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1062A>G;snpeff.Amino_Acid_length=496;snpeff.Gene_Name=MATN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MATN1" target="_blank">MATN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373765;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1062A>G;snpeff.Amino_Acid_length=496;snpeff.Gene_Name=MATN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MATN1" target="_blank">MATN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373765;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1062A>G;snpeff.Amino_Acid_length=496;snpeff.Gene_Name=MATN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MATN1" target="_blank">MATN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373765;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1062A>G;snpeff.Amino_Acid_length=496;snpeff.Gene_Name=MATN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MATN1" target="_blank">MATN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373765;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1062A>G;snpeff.Amino_Acid_length=496;snpeff.Gene_Name=MATN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MATN1" target="_blank">MATN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373765;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr354Thr/c.1062T>C;snpeff.Amino_Acid_length=496;snpeff.Gene_Name=MATN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MATN1" target="_blank">MATN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373765;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373765;SAVANT_GENE=MATN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MATN1" target="_blank">MATN1</a>;SAVANT_INFO=-/12.3kb/8/3.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1062T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MATN1+c.1062T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31188901">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,50:121:99:1371,0,1904:127	0|0:141,0:141:99:0,424,4957:127	1|1:0,98:98:99:3384,294,0:127
1	31206806	.	T	C	2540.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3795437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795437" target="_blank">rs3795437</a>;ExAC.Info.AC=38020;ExAC.Info.AN=126054;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=23278;ExAC.Info.AC_Hom=5469;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.700-42A>G;snpeff.Amino_Acid_length=262;snpeff.Gene_Name=LAPTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAPTM5" target="_blank">LAPTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294507;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294507;SAVANT_GENE=LAPTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAPTM5" target="_blank">LAPTM5</a>;SAVANT_INFO=-/25.4kb/8/2.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.700-42A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAPTM5+c.700-42A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31206806">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,328,3713:127	0|0:112,0:112:99:0,336,3773:127	0|1:54,47:101:99:1289,0,1623:127
1	31215364	.	T	C	16683.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=455;MQ=69.98;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1050663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1050663" target="_blank">rs1050663</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=69376;ExAC.Info.AN=126702;ExAC.Info.AF=0.548;ExAC.Info.AC_Het=30140;ExAC.Info.AC_Hom=19274;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser40Ser/c.120A>G;snpeff.Amino_Acid_length=262;snpeff.Gene_Name=LAPTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAPTM5" target="_blank">LAPTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294507;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294507;SAVANT_GENE=LAPTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAPTM5" target="_blank">LAPTM5</a>;SAVANT_INFO=-/25.4kb/8/2.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.120A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAPTM5+c.120A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31215364">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,66:142:99:1866,0,2221:127	0|0:175,0:175:99:0,526,6049:127	1|1:0,138:138:99:4732,414,0:127
1	31345892	.	G	A	1119.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=34;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3766285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766285" target="_blank">rs3766285</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDC3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31345892">View</a>	GT:AD:DP:GQ:PL:TP	0|1:2,2:4:60:62,0,60:35	1|0:8,10:18:99:282,0,191:35	0|0:12,0:12:36:0,36,400:35
1	31347399	.	C	T	10503.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=541;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4949184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4949184" target="_blank">rs4949184</a>;ExAC.Info.AC=24512;ExAC.Info.AN=126704;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=18938;ExAC.Info.AC_Hom=2785;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.907C>T;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.907C>T;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.907C>T;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.907C>T;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp303Asn/c.907G>A;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339394;SAVANT_GENE=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;SAVANT_INFO=-/35.6kb/5/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.907G>A_p.Asp303Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDC3+c.907G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31347399">View</a>	GT:AD:DP:GQ:PL:TP	1|0:96,94:190:99:2422,0,2694:127	0|0:202,0:202:99:0,607,7230:127	1|0:83,66:149:99:1819,0,2366:127
1	31349647	.	C	T	5299.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2491132;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2491132" target="_blank">rs2491132</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Obesity|_association_with;hgmd_2014.2.OMIM_ID=186357;hgmd_2014.2.PubMed=17018662;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17018662" target="_blank">17018662</a>;ExAC.Info.AC=19461;ExAC.Info.AN=126602;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=15312;ExAC.Info.AC_Hom=1876;Clinvar.ClinicalSignificance=Pathogenic;Clinvar.RCVaccession=RCV000013593;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser/Thr-rich__mucin-like_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser/Thr-rich__mucin-like_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val208Ile/c.622G>A;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339394;SAVANT_GENE=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;SAVANT_INFO=-/35.6kb/5/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.622G>A_p.Val208Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDC3+c.622G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31349647">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013593" target="_blank">Pathogenic</a> 	GT:AD:DP:GQ:PL:TP	1|0:37,34:71:99:1006,0,1019:127	0|0:79,0:79:99:0,237,2773:127	1|0:30,32:62:99:958,0,832:127
1	31351513	.	G	A	5727.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1891419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1891419" target="_blank">rs1891419</a>;ExAC.Info.AC=33087;ExAC.Info.AN=126704;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=23456;ExAC.Info.AC_Hom=4815;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213G>A;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213G>A;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213G>A;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213G>A;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro71Pro/c.213C>T;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339394;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339394;SAVANT_GENE=SDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDC3" target="_blank">SDC3</a>;SAVANT_INFO=-/35.6kb/5/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.213C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDC3+c.213C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31351513">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,46:88:99:1374,0,1137:127	0|0:85,0:85:99:0,256,3008:127	1|0:42,36:78:99:1066,0,1207:127
1	31413972	.	T	C	7624.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3795433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795433" target="_blank">rs3795433</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3350+26A>G;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=PUM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PUM1" target="_blank">PUM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373741;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426105;SAVANT_GENE=PUM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PUM1" target="_blank">PUM1</a>;SAVANT_INFO=-/132.9kb/22/4.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.3242+26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PUM1+c.3242+26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31413972">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,52:96:99:1683,0,1189:127	0|0:132,0:132:99:0,396,4524:127	1|0:59,55:114:99:1718,0,1736:127
1	31426815	.	A	G	9033.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275741" target="_blank">rs2275741</a>;ExAC.Info.AC=52486;ExAC.Info.AN=126694;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=29886;ExAC.Info.AC_Hom=11285;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn815Asn/c.2445T>C;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=PUM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PUM1" target="_blank">PUM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373741;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426105;SAVANT_GENE=PUM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PUM1" target="_blank">PUM1</a>;SAVANT_INFO=-/132.9kb/22/4.0kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2337T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PUM1+c.2337T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31426815">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1181,93,0:95	1|1:0,42:42:99:1618,126,0:95	1|1:0,32:32:96:1266,96,0:95
1	31446069	.	TG	T	9531.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs146432389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146432389" target="_blank">rs146432389</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1614+1428delC;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=PUM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PUM1" target="_blank">PUM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373741;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000426105;SAVANT_GENE=PUM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PUM1" target="_blank">PUM1</a>;SAVANT_INFO=-/132.9kb/22/4.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1506+1428delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PUM1+c.1506+1428delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31446069">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,29:51:99:1025,0,789:127	1|1:0,65:65:99:2736,195,0:127	0|1:12,23:35:99:921,0,402:127
1	31446071	.	T	A	9540.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs368200818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=368200818" target="_blank">rs368200818</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1614+1427A>T;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=PUM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PUM1" target="_blank">PUM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373741;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426105;SAVANT_GENE=PUM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PUM1" target="_blank">PUM1</a>;SAVANT_INFO=-/132.9kb/22/4.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1506+1427A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PUM1+c.1506+1427A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31446071">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,29:52:99:1024,0,789:127	1|1:0,65:65:99:2736,195,0:127	0|1:10,24:34:99:921,0,402:127
1	31712314	.	C	T	1528.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=63;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12025507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12025507" target="_blank">rs12025507</a>;ExAC.Info.AC=3480;ExAC.Info.AN=16236;ExAC.Info.AF=0.214;ExAC.Info.AC_Het=1612;ExAC.Info.AC_Hom=383;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.54+27G>A;snpeff.Amino_Acid_length=207;snpeff.Gene_Name=NKAIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NKAIN1" target="_blank">NKAIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373736;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.55C>T;snpeff.Amino_Acid_length=207;snpeff.Gene_Name=NKAIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NKAIN1" target="_blank">NKAIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373736;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.55C>T;snpeff.Amino_Acid_length=207;snpeff.Gene_Name=NKAIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NKAIN1" target="_blank">NKAIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373736;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373736;SAVANT_GENE=NKAIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NKAIN1" target="_blank">NKAIN1</a>;SAVANT_INFO=-/59.8kb/7/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.54+27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NKAIN1+c.54+27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31712314">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,7:19:99:175,0,356:75	0|0:25,0:25:75:0,75,879:75	1|0:12,7:19:99:183,0,358:75
1	31732602	.	CAA	C	2236.98	PASS	InheritancePattern=notInChild;AC=1;AF=0.333;AN=3;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=./1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263694;SAVANT_GENE=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;SAVANT_INFO=-/37.2kb/10/1.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*315_*316delTT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNRNP40+c.*315_*316delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31732602">View</a>	GT:AD:DP:GQ:PL	./0:12,4:30:99:296,221,673	./1:2,10:27:99:584,280,455	./0:18,3:35:99:267,246,875
1	31732602	.	CAA	CA	2236.98	PASS	InheritancePattern=Normal;AC=3;AF=0.600;AN=5;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263694;SAVANT_GENE=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;SAVANT_INFO=-/37.2kb/10/1.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*316delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNRNP40+c.*316delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31732602">View</a>	GT:AD:DP:GQ:PL	0/1:12,14:30:99:296,0,171	./1:2,15:27:99:584,171,140	0/1:18,14:35:99:267,0,310
1	31732892	.	G	A	3434.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=386;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2292165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292165" target="_blank">rs2292165</a>;ExAC.Info.AC=23997;ExAC.Info.AN=126704;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=19118;ExAC.Info.AC_Hom=2418;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=926;snpeff.Amino_Acid_Change=c.*93C>T;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263694;SAVANT_GENE=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;SAVANT_INFO=-/37.2kb/10/1.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*27C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNRNP40+c.*27C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31732892">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,375,4102:127	0|0:161,0:161:99:0,484,5502:127	0|1:44,56:100:99:1736,0,1146:127
1	31733782	.	T	A	6849.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=182;MQ=70.55;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs10914338;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10914338" target="_blank">rs10914338</a>;ExAC.Info.AC=4849;ExAC.Info.AN=13092;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=853;ExAC.Info.AC_Hom=237;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*16+20A>T;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263694;SAVANT_GENE=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;SAVANT_INFO=-/37.2kb/10/1.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1024+594A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNRNP40+c.1024+594A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31733782">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,28:61:99:719,0,879:127	1|1:0,70:70:99:2343,210,0:127	0|0:51,0:51:99:0,153,1636:127
1	31734353	.	C	T	2238.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41303429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41303429" target="_blank">rs41303429</a>;ExAC.Info.AC=3326;ExAC.Info.AN=126698;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=3172;ExAC.Info.AC_Hom=71;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1024+23G>A;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263694;SAVANT_GENE=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;SAVANT_INFO=-/37.2kb/10/1.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1024+23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNRNP40+c.1024+23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31734353">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,21:45:99:548,0,680:101	1|0:20,14:34:99:379,0,651:101	0|0:34,0:34:99:0,102,1285:101
1	31740706	.	A	G	10072.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3753373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753373" target="_blank">rs3753373</a>;ExAC.Info.AC=31883;ExAC.Info.AN=126704;ExAC.Info.AF=0.252;ExAC.Info.AC_Het=22559;ExAC.Info.AC_Hom=4652;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.920+12T>C;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263694;SAVANT_GENE=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;SAVANT_INFO=-/37.2kb/10/1.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.920+12T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNRNP40+c.920+12T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31740706">View</a>	GT:AD:DP:GQ:PL:TP	1|0:86,72:158:99:1975,0,2508:127	0|0:188,0:188:99:0,565,6414:127	1|0:73,72:145:99:1914,0,2009:127
1	31754367	.	T	C	4646.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=527;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7513215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7513215" target="_blank">rs7513215</a>;ExAC.Info.AC=14647;ExAC.Info.AN=126668;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=12525;ExAC.Info.AC_Hom=998;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.532-24A>G;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263694;SAVANT_GENE=SNRNP40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNRNP40" target="_blank">SNRNP40</a>;SAVANT_INFO=-/37.2kb/10/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.532-24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNRNP40+c.532-24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31754367">View</a>	GT:AD:DP:GQ:PL:TP	0|0:163,0:163:99:0,490,5316:127	0|0:203,0:203:99:0,610,6853:127	0|1:84,77:161:99:2342,0,2357:127
1	31882582	.	G	GGCCTCA	6705.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4012494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4012494" target="_blank">rs4012494</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=102;snpeff.Amino_Acid_Change=c.-102_-103insGCCTCA;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-100_-99insTCAGCC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.-100_-99insTCAGCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31882582">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,23:50:99:884,0,1788:104	0|0:68,0:68:99:0,205,4510:104	1|1:1,40:41:99:2123,105,0:104
1	31883295	.	T	C	3015.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs6701521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6701521" target="_blank">rs6701521</a>;ExAC.Info.AC=10750;ExAC.Info.AN=23022;ExAC.Info.AF=0.467;ExAC.Info.AC_Het=4258;ExAC.Info.AC_Hom=2727;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66+13T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.66+13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.66+13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31883295">View</a>	GT:AD:DP:GQ:PL:TP	1|0:3,12:15:75:354,0,75:39	0|0:13,0:13:39:0,39,451:39	1|1:0,29:29:87:949,87,0:39
1	31886163	.	C	T	6311.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12042883;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12042883" target="_blank">rs12042883</a>;ExAC.Info.AC=3530;ExAC.Info.AN=15846;ExAC.Info.AF=0.223;ExAC.Info.AC_Het=1214;ExAC.Info.AC_Hom=293;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66+2881C>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.66+2881C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.66+2881C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31886163">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,41:76:99:1079,0,1081:127	0|0:85,0:85:99:0,255,3066:127	1|0:35,32:67:99:853,0,998:127
1	31886833	.	T	C	3847.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs10914377;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10914377" target="_blank">rs10914377</a>;ExAC.Info.AC=7525;ExAC.Info.AN=17046;ExAC.Info.AF=0.441;ExAC.Info.AC_Het=2545;ExAC.Info.AC_Hom=1814;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66+3551T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.66+3551T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.66+3551T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31886833">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,16:41:99:477,0,713:84	0|0:83,0:83:99:0,252,2719:84	1|1:0,28:28:84:939,84,0:84
1	31896608	.	C	T	4545.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs78029434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78029434" target="_blank">rs78029434</a>;ExAC.Info.AC=3939;ExAC.Info.AN=126696;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3716;ExAC.Info.AC_Hom=101;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr45Thr/c.135C>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.135C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.135C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31896608">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,33:45:99:934,0,326:127	0|0:69,2:71:99:0,164,2257:127	1|0:31,22:53:99:674,0,904:127
1	31898132	.	T	C	13591.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4949400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4949400" target="_blank">rs4949400</a>;ExAC.Info.AC=60155;ExAC.Info.AN=126680;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=28916;ExAC.Info.AC_Hom=15496;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.420-45T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.420-45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.420-45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31898132">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,41:100:99:1200,0,1600:127	1|1:0,131:131:99:4524,394,0:127	0|0:95,0:95:99:0,285,3379:127
1	31898162	.	C	T	16364.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=425;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4949401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4949401" target="_blank">rs4949401</a>;ExAC.Info.AC=60207;ExAC.Info.AN=126702;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=28979;ExAC.Info.AC_Hom=15570;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.420-15C>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420C>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420C>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.420-15C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.420-15C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31898162">View</a>	GT:AD:DP:GQ:PL:TP	0|1:76,60:136:99:1648,0,2100:127	1|1:0,158:158:99:5471,475,0:127	0|0:131,0:131:99:0,394,4346:127
1	31898234	.	T	C	15866.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4949402;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4949402" target="_blank">rs4949402</a>;ExAC.Info.AC=61717;ExAC.Info.AN=126702;ExAC.Info.AF=0.487;ExAC.Info.AC_Het=29642;ExAC.Info.AC_Hom=16000;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile159Ile/c.477T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.477T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.477T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31898234">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,57:136:99:1610,0,2057:127	1|1:0,151:151:99:5467,454,0:127	0|0:137,0:137:99:0,411,4437:127
1	31898279	.	A	C	10583.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4949403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4949403" target="_blank">rs4949403</a>;ExAC.Info.AC=60232;ExAC.Info.AN=126692;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=28915;ExAC.Info.AC_Hom=15523;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.499+23A>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.499+23A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.499+23A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31898279">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,38:84:99:1131,0,1240:127	1|1:0,99:99:99:3570,297,0:127	0|0:85,0:85:99:0,255,2863:127
1	31902279	.	G	A	3448.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34728687;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34728687" target="_blank">rs34728687</a>;ExAC.Info.AC=9230;ExAC.Info.AN=126702;ExAC.Info.AF=0.073;ExAC.Info.AC_Het=8317;ExAC.Info.AC_Hom=450;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala112Ala/c.336C>T;snpeff.Amino_Acid_length=140;snpeff.Gene_Name=AC114494.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1144941" target="_blank">AC1144941</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000596131;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly312Ser/c.934G>A;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1144941" target="_blank">AC1144941</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.934G>A_p.Gly312Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.934G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31902279">View</a>	GT:AD:DP:GQ:PL:TP	0|0:129,0:129:99:0,387,4536:127	0|0:158,1:159:99:0,438,5664:127	0|1:75,57:132:99:1743,0,2168:127
1	31902418	.	A	G	10904.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs10047085;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10047085" target="_blank">rs10047085</a>;ExAC.Info.AC=49509;ExAC.Info.AN=126482;ExAC.Info.AF=0.391;ExAC.Info.AC_Het=28817;ExAC.Info.AC_Hom=9417;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1040+33A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met66Thr/c.197T>C;snpeff.Amino_Acid_length=140;snpeff.Gene_Name=AC114494.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000596131;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1040+33A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.1040+33A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31902418">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,44:74:99:1263,0,739:127	0|0:102,0:102:99:0,306,3425:127	1|1:1,99:100:99:3379,273,0:127
1	31905889	.	A	ACAG	21774.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3050461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3050461" target="_blank">rs3050461</a>;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=cag/CAGcag;snpeff.Amino_Acid_Change=p.Gln373_Gln374insGlnGln/c.1117_1118insCAG;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1129_1131dupCAG_p.Gln377dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.1129_1131dupCAG+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31905889">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2591,177,0:127	1|1:0,71:71:99:3236,219,0:127	1|1:0,57:57:99:2614,177,0:127
1	31906882	.	A	G	13246.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11587589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11587589" target="_blank">rs11587589</a>;ExAC.Info.AC=115476;ExAC.Info.AN=126680;ExAC.Info.AF=0.912;ExAC.Info.AC_Het=9088;ExAC.Info.AC_Hom=52708;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1260-29A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373710;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373710;SAVANT_GENE=SERINC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERINC2" target="_blank">SERINC2</a>;SAVANT_INFO=+/25.1kb/11/2.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1260-29A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERINC2+c.1260-29A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31906882">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1644,147,0:125	1|1:0,64:64:99:2128,192,0:125	1|1:0,42:42:99:1455,126,0:125
1	31973122	.	GTGGAGTCTGTC	G	4405.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs112889748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112889748" target="_blank">rs112889748</a>;ExAC.Info.AC=8823;ExAC.Info.AN=19854;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=3354;ExAC.Info.AC_Hom=1981;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.256_266delTGGAGTCTGTC;snpeff.Gene_Name=RP11-439L8.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439L83+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31973122">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,12:35:99:474,0,928:105	1|1:0,35:35:99:1575,106,0:105	0|0:42,0:42:99:0,129,1918:105
1	31973138	.	T	C	4468.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs56235358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56235358" target="_blank">rs56235358</a>;ExAC.Info.AC=8823;ExAC.Info.AN=20096;ExAC.Info.AF=0.439;ExAC.Info.AC_Het=3348;ExAC.Info.AC_Hom=1977;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271T>C;snpeff.Gene_Name=RP11-439L8.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439L83+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31973138">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,13:33:99:483,0,822:107	1|1:0,36:36:99:1585,108,0:107	0|0:41,0:41:99:0,123,1807:107
1	31973215	.	G	A	4126.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1320577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1320577" target="_blank">rs1320577</a>;ExAC.Info.AC=9062;ExAC.Info.AN=21484;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=3281;ExAC.Info.AC_Hom=1963;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.315+33G>A;snpeff.Gene_Name=RP11-439L8.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439L83+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31973215">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,13:27:99:352,0,480:116	1|1:0,47:47:99:1646,141,0:116	0|0:39,0:39:99:0,117,1479:116
1	31973266	.	G	A	5417.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs10753250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10753250" target="_blank">rs10753250</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.316-51G>A;snpeff.Gene_Name=RP11-439L8.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439L83+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31973266">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,16:35:99:464,0,660:127	1|1:0,53:53:99:1905,159,0:127	0|0:45,0:45:99:0,135,1640:127
1	31973348	.	A	C	8006.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1574106;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1574106" target="_blank">rs1574106</a>;ExAC.Info.AC=9009;ExAC.Info.AN=18690;ExAC.Info.AF=0.482;ExAC.Info.AC_Het=3313;ExAC.Info.AC_Hom=2024;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.347A>C;snpeff.Gene_Name=RP11-439L8.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418618;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439L83+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31973348">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,18:56:99:508,0,1151:127	1|1:0,74:74:99:2514,222,0:127	0|0:83,0:83:99:0,249,2875:127
1	31973409	.	G	A	7071.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1574105;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1574105" target="_blank">rs1574105</a>;ExAC.Info.AC=8663;ExAC.Info.AN=17634;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=3310;ExAC.Info.AC_Hom=2021;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.408G>A;snpeff.Gene_Name=RP11-439L8.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418618;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439L83+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31973409">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,20:52:99:495,0,918:127	1|1:1,58:59:99:1923,147,0:127	0|0:72,0:72:99:0,217,2626:127
1	31973440	.	G	A	5533.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1574104;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1574104" target="_blank">rs1574104</a>;ExAC.Info.AC=8786;ExAC.Info.AN=17866;ExAC.Info.AF=0.492;ExAC.Info.AC_Het=3295;ExAC.Info.AC_Hom=2010;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.439G>A;snpeff.Gene_Name=RP11-439L8.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418618;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439L83+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31973440">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,17:42:99:472,0,732:88	1|1:2,44:46:89:1500,89,0:88	0|0:53,0:53:99:0,159,1861:88
1	31973481	.	C	T	3170.31	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1573837;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1573837" target="_blank">rs1573837</a>;ExAC.Info.AC=7076;ExAC.Info.AN=19036;ExAC.Info.AF=0.372;ExAC.Info.AC_Het=2772;ExAC.Info.AC_Hom=1214;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.480C>T;snpeff.Gene_Name=RP11-439L8.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418618;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439L83" target="_blank">RP11-439L83</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439L83+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:31973481">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,11:30:99:300,0,632:31	1|1:1,23:24:31:809,31,0:31	0|0:40,0:40:99:0,120,1591:31
1	32084904	.	C	T	30140.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1056526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1056526" target="_blank">rs1056526</a>;ExAC.Info.AC=62149;ExAC.Info.AN=126702;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=29221;ExAC.Info.AC_Hom=16447;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.111C>T;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=HCRTR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HCRTR1" target="_blank">HCRTR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373706;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg37Arg/c.111C>T;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=HCRTR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HCRTR1" target="_blank">HCRTR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373706;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000403528;SAVANT_GENE=HCRTR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HCRTR1" target="_blank">HCRTR1</a>;SAVANT_INFO=+/9.6kb/9/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.111C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HCRTR1+c.111C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32084904">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:3863,357,0:127	1|1:0,128:128:99:4277,385,0:127	1|1:0,106:106:99:3452,318,0:127
1	32092525	.	A	G	13994.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2271933;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271933" target="_blank">rs2271933</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Polydipsia-Hyponatremia|_association_with;hgmd_2014.2.OMIM_ID=602392;hgmd_2014.2.PubMed=15978554;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15978554" target="_blank">15978554</a>;ExAC.Info.AC=70497;ExAC.Info.AN=126702;ExAC.Info.AF=0.556;ExAC.Info.AC_Het=28876;ExAC.Info.AC_Hom=20768;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1222A>G;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=HCRTR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HCRTR1" target="_blank">HCRTR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373706;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1222A>G;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=HCRTR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HCRTR1" target="_blank">HCRTR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373706;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile408Val/c.1222A>G;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=HCRTR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HCRTR1" target="_blank">HCRTR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373706;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000403528;SAVANT_GENE=HCRTR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HCRTR1" target="_blank">HCRTR1</a>;SAVANT_INFO=+/9.6kb/9/2.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1222A>G_p.Ile408Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HCRTR1+c.1222A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32092525">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1672,150,0:127	1|1:0,56:56:99:1965,168,0:127	1|1:0,57:57:99:2018,171,0:127
1	32092918	.	T	TTCC	41716.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs141988488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141988488" target="_blank">rs141988488</a>;ExAC.Info.AC=8556;ExAC.Info.AN=19858;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=3193;ExAC.Info.AC_Hom=2081;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HCRTR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HCRTR1" target="_blank">HCRTR1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HCRTR1" target="_blank">HCRTR1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HCRTR1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32092918">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:5436,367,0:127	1|1:0,140:140:99:6179,421,0:127	1|1:0,122:122:99:5506,375,0:127
1	32100551	.	GA	G	17399.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3835520;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3835520" target="_blank">rs3835520</a>;ExAC.Info.AC=16237;ExAC.Info.AN=35918;ExAC.Info.AF=0.452;ExAC.Info.AC_Het=2910;ExAC.Info.AC_Hom=2639;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.325+271delT;snpeff.Amino_Acid_length=284;snpeff.Gene_Name=PEF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEF1" target="_blank">PEF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373703;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:9_X_9_AA_approximate_tandem_repeat_of__AP_-P-G-G-P-Y-G-G-P-P];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326delA;snpeff.Amino_Acid_length=284;snpeff.Gene_Name=PEF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEF1" target="_blank">PEF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373703;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:9_X_9_AA_approximate_tandem_repeat_of__AP_-P-G-G-P-Y-G-G-P-P];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326delA;snpeff.Amino_Acid_length=284;snpeff.Gene_Name=PEF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEF1" target="_blank">PEF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373703;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326delA;snpeff.Amino_Acid_length=284;snpeff.Gene_Name=PEF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEF1" target="_blank">PEF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373703;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326delA;snpeff.Amino_Acid_length=284;snpeff.Gene_Name=PEF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEF1" target="_blank">PEF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373703;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373703;SAVANT_GENE=PEF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEF1" target="_blank">PEF1</a>;SAVANT_INFO=-/15.0kb/5/1.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.325+271delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEF1+c.325+271delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32100551">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2597,244,0:127	1|1:0,88:88:99:2805,265,0:127	1|1:0,71:71:99:2262,214,0:127
1	32119431	.	T	C	9448.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3817398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3817398" target="_blank">rs3817398</a>;ExAC.Info.AC=63657;ExAC.Info.AN=125222;ExAC.Info.AF=0.508;ExAC.Info.AC_Het=28806;ExAC.Info.AC_Hom=16585;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4534+37A>G;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=70;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.522+1586T>C;snpeff.Gene_Name=RP11-73M7.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000610043;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=In69/70;SAVANT_HGVS=c.4534+37A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.4534+37A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32119431">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,41:43:80:1494,80,0:79	1|0:25,20:45:99:614,0,647:79	1|1:0,45:45:99:1572,135,0:79
1	32127953	.	G	A	1938.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2271928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271928" target="_blank">rs2271928</a>;ExAC.Info.AC=51997;ExAC.Info.AN=125200;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=28861;ExAC.Info.AC_Hom=10838;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp1221Asp/c.3663C>T;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=Ex58;SAVANT_HGVS=c.3663C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.3663C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32127953">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1827:127	0|1:38,34:72:99:988,0,1133:127	0|0:50,0:50:99:0,150,1894:127
1	32128167	.	G	A	1176.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs114016347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114016347" target="_blank">rs114016347</a>;ExAC.Info.AC=2014;ExAC.Info.AN=122464;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=838;ExAC.Info.AC_Hom=14;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3627+21C>T;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=In57/58;SAVANT_HGVS=c.3627+21C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.3627+21C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32128167">View</a>	GT:AD:DP:GQ:PL:TP	0|0:23,0:23:69:0,69,758:41	0|1:15,23:38:99:607,0,452:41	0|0:14,0:14:42:0,42,543:41
1	32131163	.	C	G	30597.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1356803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1356803" target="_blank">rs1356803</a>;ExAC.Info.AC=60939;ExAC.Info.AN=125284;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=28751;ExAC.Info.AC_Hom=16074;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3492+21G>C;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=In55/56;SAVANT_HGVS=c.3492+21G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.3492+21G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32131163">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,102:102:99:3300,306,0:127	1|1:0,148:148:99:4940,444,0:127	1|1:0,99:99:99:3425,297,0:127
1	32148571	.	A	G	14485.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10737358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10737358" target="_blank">rs10737358</a>;ExAC.Info.AC=125170;ExAC.Info.AN=125202;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=32;ExAC.Info.AC_Hom=62384;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro833Pro/c.2499T>C;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.2502T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.2502T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32148571">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1236,114,0:127	1|1:0,72:72:99:2293,216,0:127	1|1:0,59:59:99:2017,177,0:127
1	32155284	.	T	C	6247.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2297682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297682" target="_blank">rs2297682</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1620+58A>G;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.1620+58A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.1620+58A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32155284">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,31:56:99:942,0,687:127	0/1:45,31:76:99:880,0,1161:127	0/1:28,29:57:99:860,0,788:127
1	32156869	.	A	T	31116.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10798884;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10798884" target="_blank">rs10798884</a>;ExAC.Info.AC=125122;ExAC.Info.AN=125170;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=45;ExAC.Info.AC_Hom=62031;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1399-42T>A;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1399-42T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.1399-42T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32156869">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:3827,348,0:127	1|1:0,133:133:99:4563,399,0:127	1|1:0,108:108:99:3743,324,0:127
1	32156940	.	C	A	7323.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2297680;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297680" target="_blank">rs2297680</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1398+78G>T;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1398+78G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.1398+78G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32156940">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,49:89:99:1313,0,1254:127	0|0:142,0:142:99:0,426,5291:127	1|0:58,44:102:99:1163,0,1612:127
1	32157009	.	G	T	5679.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2297679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297679" target="_blank">rs2297679</a>;ExAC.Info.AC=23273;ExAC.Info.AN=125114;ExAC.Info.AF=0.186;ExAC.Info.AC_Het=17263;ExAC.Info.AC_Hom=2776;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1398+9C>A;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1398+9C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.1398+9C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32157009">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,33:73:99:901,0,1164:127	0|0:129,0:129:99:0,388,4590:127	1|0:47,33:80:99:834,0,1475:127
1	32158304	.	A	G	9256.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2297675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297675" target="_blank">rs2297675</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1114-61T>C;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1114-61T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.1114-61T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32158304">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,56:106:99:1668,0,1288:127	0|0:157,0:157:99:0,472,5369:127	1|0:66,67:133:99:2049,0,1782:127
1	32158374	.	T	C	20384.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3818788;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818788" target="_blank">rs3818788</a>;ExAC.Info.AC=79211;ExAC.Info.AN=125256;ExAC.Info.AF=0.632;ExAC.Info.AC_Het=27854;ExAC.Info.AC_Hom=25576;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro369Pro/c.1107A>G;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1107A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.1107A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32158374">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:2950,256,0:127	1|0:63,51:114:99:1366,0,1829:127	1|1:1,105:106:99:3622,278,0:127
1	32160918	.	A	G	7067.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6656079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6656079" target="_blank">rs6656079</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.946-96T>C;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.946-96T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.946-96T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32160918">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1245,102,0:59	1|0:30,25:55:99:691,0,797:59	1|1:0,20:20:60:705,60,0:59
1	32164206	.	T	G	10820.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2228550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228550" target="_blank">rs2228550</a>;ExAC.Info.AC=78624;ExAC.Info.AN=125268;ExAC.Info.AF=0.628;ExAC.Info.AC_Het=27900;ExAC.Info.AC_Hom=25285;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Aga/Cga;snpeff.Amino_Acid_Change=p.Arg90Arg/c.268A>C;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>C;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.268A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.268A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32164206">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1634,126,0:125	1|0:19,23:42:99:797,0,539:125	1|1:0,52:52:99:1890,156,0:125
1	32165495	.	G	T	18989.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2228552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228552" target="_blank">rs2228552</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=70657;ExAC.Info.AN=125518;ExAC.Info.AF=0.563;ExAC.Info.AC_Het=28364;ExAC.Info.AC_Hom=21097;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aAg;snpeff.Amino_Acid_Change=p.Thr62Lys/c.185C>A;snpeff.Amino_Acid_length=1604;snpeff.Gene_Name=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271069;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373672;SAVANT_GENE=COL16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL16A1" target="_blank">COL16A1</a>;SAVANT_INFO=-/52.1kb/71/5.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.185C>A_p.Thr62Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL16A1+c.185C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32165495">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:3138,276,0:127	1|0:66,50:116:99:1462,0,1873:127	1|1:0,78:78:99:2825,234,0:127
1	32193647	.	T	C	4813.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1127100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1127100" target="_blank">rs1127100</a>;ExAC.Info.AC=72694;ExAC.Info.AN=123754;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=19048;ExAC.Info.AC_Hom=15825;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551T>C;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551T>C;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551T>C;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551T>C;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551T>C;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551T>C;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551T>C;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551T>C;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala1517Ala/c.4551A>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373658;SAVANT_GENE=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;SAVANT_INFO=-/36.9kb/33/5.4kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.4551A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BAI2+c.4551A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32193647">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:1010,78,0:33	1|0:14,15:29:99:418,0,378:33	1|1:0,11:11:33:431,33,0:33
1	32196647	.	C	G	2883.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs909001;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=909001" target="_blank">rs909001</a>;ExAC.Info.AC=30455;ExAC.Info.AN=123404;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=16951;ExAC.Info.AC_Hom=4032;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4134C>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4134C>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4134C>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4134C>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4134C>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4134C>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4134C>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4134C>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro1378Pro/c.4134G>C;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373658;SAVANT_GENE=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;SAVANT_INFO=-/36.9kb/33/5.4kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.4134G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BAI2+c.4134G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32196647">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,19:43:99:552,0,695:127	0|0:45,0:45:99:0,135,1614:127	1|0:21,19:40:99:595,0,632:127
1	32203163	.	C	G	4752.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2271931;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271931" target="_blank">rs2271931</a>;ExAC.Info.AC=20353;ExAC.Info.AN=126698;ExAC.Info.AF=0.161;ExAC.Info.AC_Het=16222;ExAC.Info.AC_Hom=2025;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2877-31G>C;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2877C>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2877C>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373658;SAVANT_GENE=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;SAVANT_INFO=-/36.9kb/33/5.4kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2877-31G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BAI2+c.2877-31G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32203163">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,34:60:99:1039,0,666:127	0|0:54,0:54:99:0,162,1923:127	1|0:27,28:55:99:857,0,751:127
1	32203218	.	C	A	3653.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2271932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271932" target="_blank">rs2271932</a>;ExAC.Info.AC=12805;ExAC.Info.AN=126508;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=11020;ExAC.Info.AC_Hom=746;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2876+35G>T;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2877C>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2877C>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373658;SAVANT_GENE=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;SAVANT_INFO=-/36.9kb/33/5.4kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2876+35G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BAI2+c.2876+35G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32203218">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,29:52:99:782,0,700:127	0|0:43,0:43:99:0,129,1546:127	1|0:25,26:51:99:732,0,762:127
1	32207581	.	T	G	6760.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2297600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297600" target="_blank">rs2297600</a>;ExAC.Info.AC=32493;ExAC.Info.AN=126476;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=20606;ExAC.Info.AC_Hom=5249;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1418-13A>C;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>G;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373658;SAVANT_GENE=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;SAVANT_INFO=-/36.9kb/33/5.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1418-13A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BAI2+c.1418-13A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32207581">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,44:95:99:1196,0,1343:127	0|0:101,1:102:99:0,294,3287:127	1|0:47,45:92:99:1162,0,1182:127
1	32221913	.	G	A	9984.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=431;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4949223;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4949223" target="_blank">rs4949223</a>;ExAC.Info.AC=20001;ExAC.Info.AN=126408;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=15634;ExAC.Info.AC_Hom=1978;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525G>A;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro175Pro/c.525C>T;snpeff.Amino_Acid_length=1585;snpeff.Gene_Name=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373658;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373658;SAVANT_GENE=BAI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAI2" target="_blank">BAI2</a>;SAVANT_INFO=-/36.9kb/33/5.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.525C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BAI2+c.525C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32221913">View</a>	GT:AD:DP:GQ:PL:TP	1|0:75,63:138:99:1536,0,2001:127	0|0:167,0:167:99:0,501,5619:127	1|0:69,57:126:99:1633,0,1990:127
1	32266026	.	A	G	17533.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs552124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=552124" target="_blank">rs552124</a>;ExAC.Info.AC=83077;ExAC.Info.AN=121430;ExAC.Info.AF=0.684;ExAC.Info.AC_Het=9295;ExAC.Info.AC_Hom=13979;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1602+16T>C;snpeff.Amino_Acid_length=1216;snpeff.Gene_Name=SPOCD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPOCD1" target="_blank">SPOCD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360482;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360482;SAVANT_GENE=SPOCD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPOCD1" target="_blank">SPOCD1</a>;SAVANT_INFO=-/25.6kb/16/4.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1602+16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPOCD1+c.1602+16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32266026">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1571,135,0:127	1|1:0,84:84:99:2872,252,0:127	1|1:0,73:73:99:2475,219,0:127
1	32280610	.	T	C	17344.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6664445;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6664445" target="_blank">rs6664445</a>;ExAC.Info.AC=86319;ExAC.Info.AN=126686;ExAC.Info.AF=0.681;ExAC.Info.AC_Het=26999;ExAC.Info.AC_Hom=29452;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr109Ala/c.325A>G;snpeff.Amino_Acid_length=1216;snpeff.Gene_Name=SPOCD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPOCD1" target="_blank">SPOCD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360482;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360482;SAVANT_GENE=SPOCD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPOCD1" target="_blank">SPOCD1</a>;SAVANT_INFO=-/25.6kb/16/4.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.325A>G_p.Thr109Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPOCD1+c.325A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32280610">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,57:121:99:1589,0,1579:127	1|1:0,116:116:99:4122,349,0:127	0|1:70,63:133:99:1893,0,1714:127
1	32378540	.	G	T	9400.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10493050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10493050" target="_blank">rs10493050</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190-1113C>A;snpeff.Amino_Acid_length=167;snpeff.Gene_Name=PTP4A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTP4A2" target="_blank">PTP4A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344035;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.485+8418C>A;snpeff.Gene_Name=RP11-84A19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTP4A2" target="_blank">PTP4A2</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344035;SAVANT_GENE=PTP4A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTP4A2" target="_blank">PTP4A2</a>;SAVANT_INFO=-/32.0kb/6/3.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.190-1113C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTP4A2+c.190-1113C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32378540">View</a>	GT:AD:DP:GQ:PL:TP	0/1:45,40:85:99:1492,0,1299:127	0/1:46,33:79:99:1185,0,1467:127	0/1:44,51:95:99:1402,0,1285:127
1	32378545	.	TAG	T	5739.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs144710236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144710236" target="_blank">rs144710236</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190-1120_190-1119delCT;snpeff.Amino_Acid_length=167;snpeff.Gene_Name=PTP4A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTP4A2" target="_blank">PTP4A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344035;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.485+8411_485+8412delCT;snpeff.Gene_Name=RP11-84A19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTP4A2" target="_blank">PTP4A2</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000344035;SAVANT_GENE=PTP4A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTP4A2" target="_blank">PTP4A2</a>;SAVANT_INFO=-/32.0kb/6/3.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.190-1120_190-1119delCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTP4A2+c.190-1120_190-1119delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32378545">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,35:83:99:1270,0,2122:127	1|0:47,28:75:99:980,0,2221:127	0|0:97,0:97:99:0,301,4431:127
1	32379996	.	CTATT	C	8735.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs150609317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150609317" target="_blank">rs150609317</a>;ExAC.Info.AC=663;ExAC.Info.AN=19950;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=358;ExAC.Info.AC_Hom=14;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.189+1496_189+1499delAATA;snpeff.Amino_Acid_length=167;snpeff.Gene_Name=PTP4A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTP4A2" target="_blank">PTP4A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344035;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.485+6958_485+6961delAATA;snpeff.Gene_Name=RP11-84A19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTP4A2" target="_blank">PTP4A2</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=ctattt/;snpeff.Amino_Acid_Change=p.Leu88fs/c.263_266delTATT;snpeff.Amino_Acid_length=105;snpeff.Gene_Name=AL136115.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTP4A2" target="_blank">PTP4A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391369;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(AL136115.1|ENSG00000212673|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000391369:ENST00000344035;SAVANT_GENE=AL136115.1:PTP4A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL1361151:PTP4A2" target="_blank">AL1361151:PTP4A2</a>;SAVANT_INFO=+/1.6kb/1/1.6kb:-/32.0kb/6/3.9kb;SAVANT_LOC=Ex1:In3/4;SAVANT_HGVS=c.265_268delTTTA:c.189+1496_189+1499delAATA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=FC:INTR;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL1361151:PTP4A2+c.265_268delTTTA:c.189+1496_189+1499delAATA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32379996">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,26:53:99:1000,0,1261:127	0/1:27,41:68:99:1589,0,1284:127	0/1:25,33:58:99:1311,0,1106:127
1	32557486	.	A	G	6274.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs744455;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=744455" target="_blank">rs744455</a>;ExAC.Info.AC=15672;ExAC.Info.AN=126704;ExAC.Info.AF=0.124;ExAC.Info.AC_Het=12702;ExAC.Info.AC_Hom=1473;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser267Ser/c.801A>G;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=TMEM39B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM39B" target="_blank">TMEM39B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336294;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336294;SAVANT_GENE=TMEM39B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM39B" target="_blank">TMEM39B</a>;SAVANT_INFO=+/30.0kb/9/1.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.801A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM39B+c.801A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32557486">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,51:93:99:1499,0,1102:127	1|0:34,46:80:99:1370,0,999:127	0|0:77,0:77:99:0,231,2589:127
1	32623108	.	A	G	7562.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=277;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41311207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41311207" target="_blank">rs41311207</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346+62A>G;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=KPNA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KPNA6" target="_blank">KPNA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373625;SAVANT_GENE=KPNA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KPNA6" target="_blank">KPNA6</a>;SAVANT_INFO=+/68.5kb/14/7.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.331+62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KPNA6+c.331+62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32623108">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,41:68:99:1199,0,735:127	1|0:52,54:106:99:1823,0,1516:127	0|0:103,0:103:99:0,310,3516:127
1	32672784	.	G	C	6942.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56663136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56663136" target="_blank">rs56663136</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.799-57G>C;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=IQCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQCC" target="_blank">IQCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537469;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537469;SAVANT_GENE=IQCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQCC" target="_blank">IQCC</a>;SAVANT_INFO=+/3.1kb/5/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.799-57G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQCC+c.799-57G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32672784">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,40:72:99:1583,0,1905:127	1|0:42,33:75:99:1256,0,2557:127	0|0:65,0:65:99:0,202,4555:127
1	32672785	.	A	T	6942.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs60559680;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60559680" target="_blank">rs60559680</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.799-56A>T;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=IQCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQCC" target="_blank">IQCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537469;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537469;SAVANT_GENE=IQCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQCC" target="_blank">IQCC</a>;SAVANT_INFO=+/3.1kb/5/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.799-56A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQCC+c.799-56A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32672785">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,40:72:99:1583,0,1905:127	1|0:41,33:74:99:1256,0,2557:127	0|0:67,0:67:99:0,202,4555:127
1	32672908	.	T	G	9333.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3903683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3903683" target="_blank">rs3903683</a>;ExAC.Info.AC=15951;ExAC.Info.AN=126704;ExAC.Info.AF=0.126;ExAC.Info.AC_Het=12810;ExAC.Info.AC_Hom=1564;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tGc;snpeff.Amino_Acid_Change=p.Phe289Cys/c.866T>G;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=IQCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQCC" target="_blank">IQCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537469;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537469;SAVANT_GENE=IQCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQCC" target="_blank">IQCC</a>;SAVANT_INFO=+/3.1kb/5/2.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.866T>G_p.Phe289Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQCC+c.866T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32672908">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,42:98:99:1203,0,1540:127	1|0:60,65:125:99:2129,0,1703:127	0|0:96,0:96:99:0,288,3297:127
1	32682962	.	C	A	6575.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41311189;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41311189" target="_blank">rs41311189</a>;ExAC.Info.AC=13949;ExAC.Info.AN=126660;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=11512;ExAC.Info.AC_Hom=1133;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.236-10G>T;snpeff.Amino_Acid_length=180;snpeff.Gene_Name=TMEM234;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM234" target="_blank">TMEM234</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309777;SAVANT_GENE=TMEM234;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM234" target="_blank">TMEM234</a>;SAVANT_INFO=-/6.1kb/5/1.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.236-10G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM234+c.236-10G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32682962">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,37:65:99:967,0,878:127	1|0:41,54:95:99:1621,0,1206:127	0|0:82,0:82:99:0,246,2998:127
1	32689521	.	A	G	2256.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs16834931;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16834931" target="_blank">rs16834931</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.97-114A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0139.1:CTCF];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.97A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.97A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373586;SAVANT_GENE=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;SAVANT_INFO=+/9.2kb/11/1.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.97-114A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF3I+c.97-114A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32689521">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,13:26:99:367,0,322:39	1|0:16,15:31:99:508,0,473:39	0|0:13,0:13:39:0,39,436:39
1	32690143	.	A	G	13.07	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=30;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.250+67A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.251A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.251A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.251A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373586;SAVANT_GENE=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;SAVANT_INFO=+/9.2kb/11/1.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.250+67A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF3I+c.250+67A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32690143">View</a>	GT:AD:DP:GQ:PL:TP	0|0:7,0:7:21:0,21,277:19	0|1:6,2:8:25:25,0,220:19	0|0:15,0:15:45:0,45,579:19
1	32694819	.	A	G	4832.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72666792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72666792" target="_blank">rs72666792</a>;ExAC.Info.AC=13736;ExAC.Info.AN=126702;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=11467;ExAC.Info.AC_Hom=1130;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.803+10A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373586;SAVANT_GENE=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;SAVANT_INFO=+/9.2kb/11/1.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.803+10A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF3I+c.803+10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32694819">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,20:49:99:526,0,708:127	1|0:38,42:80:99:1160,0,1013:127	0|0:67,0:67:99:0,201,2281:127
1	32696628	.	A	C	7004.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72666795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72666795" target="_blank">rs72666795</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=15342;ExAC.Info.AN=126694;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=12541;ExAC.Info.AC_Hom=1393;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.896+8A>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897A>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897A>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897A>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373586;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373586;SAVANT_GENE=EIF3I;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3I" target="_blank">EIF3I</a>;SAVANT_INFO=+/9.2kb/11/1.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.896+8A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF3I+c.896+8A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32696628">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,42:68:99:1174,0,587:127	1|0:34,56:90:99:1737,0,889:127	0|0:97,0:97:99:0,291,3173:127
1	32713199	.	A	G	6228.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2291063;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291063" target="_blank">rs2291063</a>;ExAC.Info.AC=11881;ExAC.Info.AN=125250;ExAC.Info.AF=0.095;ExAC.Info.AC_Het=9420;ExAC.Info.AC_Hom=989;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln59Gln/c.177A>G;snpeff.Amino_Acid_length=163;snpeff.Gene_Name=FAM167B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM167B" target="_blank">FAM167B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373582;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373582;SAVANT_GENE=FAM167B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM167B" target="_blank">FAM167B</a>;SAVANT_INFO=+/1.6kb/2/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.177A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM167B+c.177A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:32713199">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,25:72:99:581,0,1288:127	1|0:33,47:80:99:1331,0,988:127	0|0:55,0:55:99:0,165,2013:127
1	33060834	.	AT	A	5785.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11327743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11327743" target="_blank">rs11327743</a>;ExAC.Info.AC=12809;ExAC.Info.AN=126700;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=11624;ExAC.Info.AC_Hom=752;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1112+11delT;snpeff.Gene_Name=RP1-27O5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-27O53" target="_blank">RP1-27O53</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000480336;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.993+11delT;snpeff.Amino_Acid_length=441;snpeff.Gene_Name=ZBTB8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-27O53" target="_blank">RP1-27O53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373510;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994delT;snpeff.Amino_Acid_length=441;snpeff.Gene_Name=ZBTB8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-27O53" target="_blank">RP1-27O53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373510;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994delT;snpeff.Amino_Acid_length=441;snpeff.Gene_Name=ZBTB8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-27O53" target="_blank">RP1-27O53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373510;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373510;SAVANT_GENE=ZBTB8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB8A" target="_blank">ZBTB8A</a>;SAVANT_INFO=+/61.4kb/5/1.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.993+18delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB8A+c.993+18delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33060834">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,37:67:99:892,0,708:127	0/1:28,40:68:99:960,0,664:127	0/1:24,30:54:99:721,0,569:127
1	33065947	.	G	C	47259.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=602;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs704886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=704886" target="_blank">rs704886</a>;ExAC.Info.AC=126700;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=63333;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZBTB8OS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB8OS" target="_blank">ZBTB8OS</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=63818;snpeff.Amino_Acid_Change=n.*1372G>C;snpeff.Gene_Name=RP1-27O5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB8OS" target="_blank">ZBTB8OS</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000480336;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGt/gCt;snpeff.Amino_Acid_Change=p.Gly418Ala/c.1253G>C;snpeff.Amino_Acid_length=441;snpeff.Gene_Name=ZBTB8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB8OS" target="_blank">ZBTB8OS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373510;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373510;SAVANT_GENE=ZBTB8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB8A" target="_blank">ZBTB8A</a>;SAVANT_INFO=+/61.4kb/5/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1253G>C_p.Gly418Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB8A+c.1253G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33065947">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,189:189:99:6533,567,0:127	1|1:0,229:229:99:8072,687,0:127	1|1:0,184:184:99:6893,553,0:127
1	33087567	.	GA	G	293.55	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=59;MQ=70.05;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.454-19delT;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=ZBTB8OS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB8OS" target="_blank">ZBTB8OS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000468695;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000468695;SAVANT_GENE=ZBTB8OS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB8OS" target="_blank">ZBTB8OS</a>;SAVANT_INFO=-/29.8kb/7/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.454-19delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB8OS+c.454-19delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33087567">View</a>	GT:AD:DP:GQ:PL	0/1:8,10:20:99:149,0,179	./0:10,3:18:37:41,37,311	0/1:13,5:21:7:12,0,432
1	33087567	.	GA	GAA	293.55	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=59;MQ=70.05;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.454-19_454-20insT;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=ZBTB8OS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB8OS" target="_blank">ZBTB8OS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000468695;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000468695;SAVANT_GENE=ZBTB8OS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB8OS" target="_blank">ZBTB8OS</a>;SAVANT_INFO=-/29.8kb/7/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.454-19dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB8OS+c.454-19dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33087567">View</a>	GT:AD:DP:GQ:PL	./0:8,2:20:99:149,184,391	0/1:10,5:18:37:41,0,220	./0:13,3:21:7:12,7,293
1	33116206	.	A	T	3476.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=528;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41265851;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41265851" target="_blank">rs41265851</a>;ExAC.Info.AC=3131;ExAC.Info.AN=126692;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=3039;ExAC.Info.AC_Hom=44;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZBTB8OS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB8OS" target="_blank">ZBTB8OS</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB8OS" target="_blank">ZBTB8OS</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB8OS+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33116206">View</a>	GT:AD:DP:GQ:PL:TP	0|0:155,0:155:99:0,465,4902:127	0|0:213,0:213:99:0,638,6438:127	0|1:93,67:160:99:1757,0,2580:127
1	33133968	.	T	C	33538.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=378;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2762904;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2762904" target="_blank">rs2762904</a>;ExAC.Info.AC=125609;ExAC.Info.AN=126700;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=997;ExAC.Info.AC_Hom=62282;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.453T>C;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.453T>C;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val151Val/c.453T>C;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373493;SAVANT_GENE=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;SAVANT_INFO=+/29.5kb/12/2.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.453T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBBP4+c.453T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33133968">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4451,376,0:127	1|1:0,134:134:99:4946,403,0:127	1|1:0,119:119:99:4408,358,0:127
1	33134774	.	A	C	7195.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs359955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=359955" target="_blank">rs359955</a>;ExAC.Info.AC=92556;ExAC.Info.AN=126688;ExAC.Info.AF=0.731;ExAC.Info.AC_Het=21934;ExAC.Info.AC_Hom=35276;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.761+41A>C;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373493;SAVANT_GENE=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;SAVANT_INFO=+/29.5kb/12/2.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.761+41A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBBP4+c.761+41A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33134774">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,28:52:99:741,0,673:127	1|1:0,79:79:99:2514,237,0:127	0|0:58,0:58:99:0,174,2052:127
1	33134989	.	A	G	3328.94	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs359956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=359956" target="_blank">rs359956</a>;ExAC.Info.AC=114010;ExAC.Info.AN=126464;ExAC.Info.AF=0.902;ExAC.Info.AC_Het=9167;ExAC.Info.AC_Hom=52113;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.888+31A>G;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>G;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>G;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>G;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>G;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373493;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373493;SAVANT_GENE=RBBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP4" target="_blank">RBBP4</a>;SAVANT_INFO=+/29.5kb/12/2.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.888+31A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBBP4+c.888+31A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33134989">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:464,36,0:24	1|1:0,25:25:75:876,75,0:24	1|1:0,8:8:24:231,24,0:24
1	33160878	.	C	T	35436.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs360042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=360042" target="_blank">rs360042</a>;ExAC.Info.AC=46734;ExAC.Info.AN=51118;ExAC.Info.AF=0.914;ExAC.Info.AC_Het=1592;ExAC.Info.AC_Hom=11405;snpeff.Effect=sequence_feature[region_of_interest:Coil_1b];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.821C>T;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=SYNC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYNC" target="_blank">SYNC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg274Gln/c.821G>A;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=SYNC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYNC" target="_blank">SYNC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409190;SAVANT_GENE=SYNC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYNC" target="_blank">SYNC</a>;SAVANT_INFO=-/22.8kb/5/3.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.821G>A_p.Arg274Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYNC+c.821G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33160878">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:4152,378,0:127	1|1:0,159:159:99:5684,478,0:127	1|1:0,120:120:99:4146,361,0:127
1	33161212	.	T	C	58936.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=716;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs360041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=360041" target="_blank">rs360041</a>;ExAC.Info.AC=26603;ExAC.Info.AN=28812;ExAC.Info.AF=0.923;ExAC.Info.AC_Het=1548;ExAC.Info.AC_Hom=11051;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487T>C;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=SYNC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYNC" target="_blank">SYNC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met163Val/c.487A>G;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=SYNC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYNC" target="_blank">SYNC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409190;SAVANT_GENE=SYNC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYNC" target="_blank">SYNC</a>;SAVANT_INFO=-/22.8kb/5/3.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.487A>G_p.Met163Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYNC+c.487A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33161212">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,222:222:99:7789,667,0:127	1|1:0,262:262:99:9542,788,0:127	1|1:0,232:232:99:8366,697,0:127
1	33234190	.	A	T	1873.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs55919953;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55919953" target="_blank">rs55919953</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.463-63A>T;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=KIAA1522;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1522" target="_blank">KIAA1522</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401073;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401073;SAVANT_GENE=KIAA1522;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1522" target="_blank">KIAA1522</a>;SAVANT_INFO=+/33.1kb/7/5.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.463-63A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1522+c.463-63A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33234190">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,8:19:99:211,0,338:120	0|0:40,0:40:99:0,120,1415:120	1|0:7,15:22:99:458,0,201:120
1	33235626	.	G	A	6935.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3737995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737995" target="_blank">rs3737995</a>;ExAC.Info.AC=43754;ExAC.Info.AN=124586;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=25678;ExAC.Info.AC_Hom=7929;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala282Ala/c.846G>A;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=KIAA1522;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1522" target="_blank">KIAA1522</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401073;SAVANT_GENE=KIAA1522;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1522" target="_blank">KIAA1522</a>;SAVANT_INFO=+/33.1kb/7/5.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.846G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1522+c.846G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33235626">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,42:88:99:1242,0,1781:127	1|0:49,39:88:99:1191,0,1520:127	0|0:69,0:69:99:0,213,2700:127
1	33235651	.	A	G	6622.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12730560;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12730560" target="_blank">rs12730560</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=16721;ExAC.Info.AN=124886;ExAC.Info.AF=0.134;ExAC.Info.AC_Het=13079;ExAC.Info.AC_Hom=1434;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met291Val/c.871A>G;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=KIAA1522;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1522" target="_blank">KIAA1522</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401073;SAVANT_GENE=KIAA1522;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1522" target="_blank">KIAA1522</a>;SAVANT_INFO=+/33.1kb/7/5.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.871A>G_p.Met291Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1522+c.871A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33235651">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,50:94:99:1316,0,1598:127	0|0:91,0:91:99:0,273,3525:127	1|0:35,40:75:99:1133,0,1048:127
1	33245802	.	C	G	10552.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=455;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_dominant_intermediate_C|_608323_(3)|Charcot-Marie-Tooth_disease|_dominant_intermediate_C|_608323_(3);dbSNP139.ID=rs699005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=699005" target="_blank">rs699005</a>;ExAC.Info.AC=12404;ExAC.Info.AN=126704;ExAC.Info.AF=0.098;ExAC.Info.AC_Het=10723;ExAC.Info.AC_Hom=840;snpeff.Effect=sequence_feature[domain:tRNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1218C>G;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:tRNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1218C>G;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:tRNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1218C>G;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu406Leu/c.1218G>C;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373477;SAVANT_GENE=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;SAVANT_INFO=-/42.9kb/13/3.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1218G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YARS+c.1218G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33245802">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,77:150:99:2317,0,2080:127	0|0:153,0:153:99:0,460,6113:127	1|0:87,65:152:99:1886,0,2683:127
1	33256884	.	C	A	16014.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=724;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_dominant_intermediate_C|_608323_(3)|Charcot-Marie-Tooth_disease|_dominant_intermediate_C|_608323_(3);dbSNP139.ID=rs1765223;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1765223" target="_blank">rs1765223</a>;ExAC.Info.AC=38977;ExAC.Info.AN=126694;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=26610;ExAC.Info.AC_Hom=6173;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.592-29G>T;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592C>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592C>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373477;SAVANT_GENE=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;SAVANT_INFO=-/42.9kb/13/3.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.592-29G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YARS+c.592-29G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33256884">View</a>	GT:AD:DP:GQ:PL:TP	1|0:98,102:200:99:3145,0,2695:127	0|0:270,2:272:99:0,731,9116:127	1|0:121,131:252:99:3981,0,3528:127
1	33276424	.	G	A	24714.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_dominant_intermediate_C|_608323_(3)|Charcot-Marie-Tooth_disease|_dominant_intermediate_C|_608323_(3);dbSNP139.ID=rs4951787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4951787" target="_blank">rs4951787</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.205-57C>T;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.205G>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.205G>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373477;SAVANT_GENE=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;SAVANT_INFO=-/42.9kb/13/3.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.205-57C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YARS+c.205-57C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33276424">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:3871,351,0:127	1|1:0,103:103:99:3678,309,0:127	1|1:0,94:94:99:3238,282,0:127
1	33282775	.	C	A	12673.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=551;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_dominant_intermediate_C|_608323_(3)|Charcot-Marie-Tooth_disease|_dominant_intermediate_C|_608323_(3);dbSNP139.ID=rs72654020;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72654020" target="_blank">rs72654020</a>;ExAC.Info.AC=12322;ExAC.Info.AN=126704;ExAC.Info.AF=0.097;ExAC.Info.AC_Het=10657;ExAC.Info.AC_Hom=831;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=S100PBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100PBP" target="_blank">S100PBP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.57+14G>T;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100PBP" target="_blank">S100PBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58C>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100PBP" target="_blank">S100PBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58C>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100PBP" target="_blank">S100PBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0003.1:Ap2alpha];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373477;SAVANT_GENE=YARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YARS" target="_blank">YARS</a>;SAVANT_INFO=-/42.9kb/13/3.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.57+14G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YARS+c.57+14G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33282775">View</a>	GT:AD:DP:GQ:PL:TP	1|0:86,97:183:99:2521,0,2370:127	0|0:208,0:208:99:0,624,7213:127	1|0:87,73:160:99:1893,0,2409:127
1	33318634	.	G	A	19850.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_dominant_intermediate_C|_608323_(3)|Charcot-Marie-Tooth_disease|_dominant_intermediate_C|_608323_(3);dbSNP139.ID=rs785274;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=785274" target="_blank">rs785274</a>;ExAC.Info.AC=126132;ExAC.Info.AN=126684;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=527;ExAC.Info.AC_Hom=62436;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1025-46G>A;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=S100PBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100PBP" target="_blank">S100PBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373476;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373475;SAVANT_GENE=S100PBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100PBP" target="_blank">S100PBP</a>;SAVANT_INFO=+/41.3kb/7/4.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1025-46G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=S100PBP+c.1025-46G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33318634">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2883,261,0:127	1|1:0,99:99:99:3228,297,0:127	1|1:0,71:71:99:2533,213,0:127
1	33330432	.	A	G	5980.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=65;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1284368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1284368" target="_blank">rs1284368</a>;ExAC.Info.AC=126132;ExAC.Info.AN=126688;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=528;ExAC.Info.AC_Hom=62357;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.500-34T>C;snpeff.Amino_Acid_length=212;snpeff.Gene_Name=FNDC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC5" target="_blank">FNDC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373471;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000373471;SAVANT_GENE=FNDC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC5" target="_blank">FNDC5</a>;SAVANT_INFO=-/8.5kb/6/2.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.275-34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FNDC5+c.275-34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33330432">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:817,69,0:44	1|1:0,27:27:81:1087,81,0:44	1|1:0,15:15:45:623,45,0:44
1	33360343	.	G	A	4537.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1053522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1053522" target="_blank">rs1053522</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HPCA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCA" target="_blank">HPCA</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=63;snpeff.Amino_Acid_Change=c.*63C>T;snpeff.Amino_Acid_length=222;snpeff.Gene_Name=TMEM54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCA" target="_blank">HPCA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373463;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373463;SAVANT_GENE=TMEM54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM54" target="_blank">TMEM54</a>;SAVANT_INFO=-/6.8kb/6/1.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*63C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM54+c.*63C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33360343">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,33:83:99:746,0,1504:127	0|0:100,0:100:99:0,300,3346:127	1|0:37,26:63:99:699,0,1134:127
1	33366704	.	T	A	2777.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs114172030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114172030" target="_blank">rs114172030</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.16+120A>T;snpeff.Amino_Acid_length=222;snpeff.Gene_Name=TMEM54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM54" target="_blank">TMEM54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373463;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373463;SAVANT_GENE=TMEM54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM54" target="_blank">TMEM54</a>;SAVANT_INFO=-/6.8kb/6/1.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.16+120A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM54+c.16+120A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33366704">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,14:29:99:348,0,361:127	0|0:48,0:48:99:0,144,1602:127	1|0:22,22:44:99:542,0,652:127
1	33402515	.	C	T	5595.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs35462688;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35462688" target="_blank">rs35462688</a>;ExAC.Info.AC=10217;ExAC.Info.AN=126696;ExAC.Info.AF=0.081;ExAC.Info.AC_Het=8995;ExAC.Info.AC_Hom=610;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser697Ser/c.2091G>A;snpeff.Amino_Acid_length=732;snpeff.Gene_Name=RNF19B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF19B" target="_blank">RNF19B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373456;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373456;SAVANT_GENE=RNF19B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF19B" target="_blank">RNF19B</a>;SAVANT_INFO=-/28.2kb/9/2.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2091G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF19B+c.2091G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33402515">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,25:58:99:670,0,894:127	0|0:82,0:82:99:0,246,2918:127	1|0:30,39:69:99:1181,0,914:127
1	33402542	.	G	C	5577.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs35756506;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35756506" target="_blank">rs35756506</a>;ExAC.Info.AC=10229;ExAC.Info.AN=126704;ExAC.Info.AF=0.081;ExAC.Info.AC_Het=9001;ExAC.Info.AC_Hom=614;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro688Pro/c.2064C>G;snpeff.Amino_Acid_length=732;snpeff.Gene_Name=RNF19B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF19B" target="_blank">RNF19B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373456;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373456;SAVANT_GENE=RNF19B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF19B" target="_blank">RNF19B</a>;SAVANT_INFO=-/28.2kb/9/2.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2064C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF19B+c.2064C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33402542">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,17:48:99:490,0,914:127	0|0:88,0:88:99:0,265,3221:127	1|0:36,36:72:99:1082,0,1087:127
1	33409693	.	G	A	10177.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs194645;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=194645" target="_blank">rs194645</a>;ExAC.Info.AC=29008;ExAC.Info.AN=126704;ExAC.Info.AF=0.229;ExAC.Info.AC_Het=21692;ExAC.Info.AC_Hom=3622;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly444Gly/c.1332C>T;snpeff.Amino_Acid_length=732;snpeff.Gene_Name=RNF19B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF19B" target="_blank">RNF19B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373456;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373456;SAVANT_GENE=RNF19B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF19B" target="_blank">RNF19B</a>;SAVANT_INFO=-/28.2kb/9/2.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1332C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF19B+c.1332C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33409693">View</a>	GT:AD:DP:GQ:PL:TP	0/1:57,55:112:99:1384,0,1845:127	0/1:63,58:121:99:1651,0,1884:127	0/1:48,49:97:99:1378,0,1366:127
1	33415409	.	G	GT	3233.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=70.06;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11408991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11408991" target="_blank">rs11408991</a>;ExAC.Info.AC=14247;ExAC.Info.AN=126678;ExAC.Info.AF=0.112;ExAC.Info.AC_Het=11679;ExAC.Info.AC_Hom=1159;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.636-34_636-35insA;snpeff.Amino_Acid_length=732;snpeff.Gene_Name=RNF19B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF19B" target="_blank">RNF19B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373456;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:IBR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636_637insT;snpeff.Amino_Acid_length=732;snpeff.Gene_Name=RNF19B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF19B" target="_blank">RNF19B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373456;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:IBR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636_637insT;snpeff.Amino_Acid_length=732;snpeff.Gene_Name=RNF19B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF19B" target="_blank">RNF19B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373456;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373456;SAVANT_GENE=RNF19B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF19B" target="_blank">RNF19B</a>;SAVANT_INFO=-/28.2kb/9/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.636-35dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF19B+c.636-35dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33415409">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,16:39:99:481,0,744:127	0|0:50,0:50:99:0,151,1829:127	1|0:22,24:46:99:730,0,660:127
1	33476239	.	T	C	19861.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=786;MQ=68.06;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Reticular_dysgenesis|_267500_(3);dbSNP139.ID=rs74066438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74066438" target="_blank">rs74066438</a>;ExAC.Info.AC=14234;ExAC.Info.AN=112188;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=11228;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.246-20397T>C;snpeff.Gene_Name=RP1-117O3.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33476239">View</a>	GT:AD:DP:GQ:PL:TP	0/1:174,112:286:99:3079,0,5233:127	0/1:156,136:292:99:3731,0,4773:127	0/1:112,96:208:99:2654,0,3460:127
1	33476292	.	A	G	24420.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1050;MQ=68.86;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Reticular_dysgenesis|_267500_(3);dbSNP139.ID=rs74066439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74066439" target="_blank">rs74066439</a>;ExAC.Info.AC=41961;ExAC.Info.AN=126442;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=39870;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.246-20344A>G;snpeff.Gene_Name=RP1-117O3.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33476292">View</a>	GT:AD:DP:GQ:PL:TP	0/1:244,147:391:99:3730,0,7479:127	0/1:210,174:384:99:4669,0,6001:127	0/1:156,119:275:99:3151,0,4607:127
1	33476353	.	C	T	15811.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=678;MQ=69.06;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Reticular_dysgenesis|_267500_(3);dbSNP139.ID=rs66599471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66599471" target="_blank">rs66599471</a>;ExAC.Info.AC=36718;ExAC.Info.AN=126702;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=34099;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.246-20283C>T;snpeff.Gene_Name=RP1-117O3.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33476353">View</a>	GT:AD:DP:GQ:PL:TP	0/1:166,98:264:99:2685,0,5408:127	0/1:149,101:250:99:2930,0,5036:127	0/1:102,62:164:99:1723,0,3413:127
1	33476396	.	G	A	9423.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=521;MQ=69.29;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Reticular_dysgenesis|_267500_(3);dbSNP139.ID=rs79824855;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79824855" target="_blank">rs79824855</a>;ExAC.Info.AC=21544;ExAC.Info.AN=126704;ExAC.Info.AF=0.170;ExAC.Info.AC_Het=20079;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.246-20240G>A;snpeff.Gene_Name=RP1-117O3.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33476396">View</a>	GT:AD:DP:GQ:PL:TP	0/1:136,55:191:99:1972,0,8091:127	0/1:148,48:196:99:1585,0,9819:127	0/1:103,31:134:99:968,0,6606:127
1	33476404	.	T	G	7632.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=509;MQ=69.34;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Reticular_dysgenesis|_267500_(3);dbSNP139.ID=rs76230073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76230073" target="_blank">rs76230073</a>;ExAC.Info.AC=21394;ExAC.Info.AN=126704;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=19953;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.246-20232T>G;snpeff.Gene_Name=RP1-117O3.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK2" target="_blank">AK2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33476404">View</a>	GT:AD:DP:GQ:PL:TP	0/1:140,44:184:99:1552,0,7992:127	0/1:155,37:192:99:1249,0,9720:127	0/1:104,29:133:99:902,0,6273:127
1	33547768	.	T	C	10408.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1871322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1871322" target="_blank">rs1871322</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ADC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADC" target="_blank">ADC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294517;SAVANT_GENE=ADC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADC" target="_blank">ADC</a>;SAVANT_INFO=+/39.3kb/12/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-83T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADC+c.-83T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33547768">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,38:98:99:1107,0,1742:127	0|0:116,0:116:99:0,349,4116:127	1|1:0,83:83:99:3154,250,0:127
1	33560338	.	A	G	25122.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs804428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=804428" target="_blank">rs804428</a>;ExAC.Info.AC=122909;ExAC.Info.AN=126700;ExAC.Info.AF=0.970;ExAC.Info.AC_Het=3630;ExAC.Info.AC_Hom=59491;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.753+24A>G;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=ADC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADC" target="_blank">ADC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294517;SAVANT_GENE=ADC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADC" target="_blank">ADC</a>;SAVANT_INFO=+/39.3kb/12/2.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.753+24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADC+c.753+24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33560338">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2868,232,0:127	1|1:0,110:110:99:4066,331,0:127	1|1:0,81:81:99:3067,244,0:127
1	33631069	.	C	A	696.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=65;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2306257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306257" target="_blank">rs2306257</a>;ExAC.Info.AC=27301;ExAC.Info.AN=126358;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=17282;ExAC.Info.AC_Hom=2609;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.504+3G>T;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291416;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505C>A;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291416;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505C>A;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291416;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505C>A;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291416;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505G>T;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291416;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000291416;SAVANT_GENE=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;SAVANT_INFO=-/36.3kb/5/3.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.504+3G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM62+c.504+3G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33631069">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,767:59	0|0:26,0:26:78:0,78,961:59	0|1:7,12:19:99:367,0,224:59
1	33641932	.	A	G	18917.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs604941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=604941" target="_blank">rs604941</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.408+4694T>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291416;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.409A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291416;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.409A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291416;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.409A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291416;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000291416;SAVANT_GENE=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;SAVANT_INFO=-/36.3kb/5/3.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.408+4694T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM62+c.408+4694T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33641932">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3171,282,0:127	1|1:0,74:74:99:2562,222,0:127	1|1:0,64:64:99:2346,192,0:127
1	33646950	.	A	G	13360.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs622407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=622407" target="_blank">rs622407</a>;ExAC.Info.AC=85211;ExAC.Info.AN=117044;ExAC.Info.AF=0.728;ExAC.Info.AC_Het=14259;ExAC.Info.AC_Hom=21903;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.84A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291416;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His28His/c.84T>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000291416;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000291416;SAVANT_GENE=TRIM62;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM62" target="_blank">TRIM62</a>;SAVANT_INFO=-/36.3kb/5/3.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.84T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM62+c.84T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33646950">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:2016,165,0:127	1|1:0,57:57:99:2250,171,0:127	1|0:24,22:46:99:609,0,643:127
1	33741787	.	G	A	2422.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12743549;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12743549" target="_blank">rs12743549</a>;ExAC.Info.AC=25573;ExAC.Info.AN=126696;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=19988;ExAC.Info.AC_Hom=2751;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.102+23G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=ZNF362;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF362" target="_blank">ZNF362</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539719;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000539719;SAVANT_GENE=ZNF362;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF362" target="_blank">ZNF362</a>;SAVANT_INFO=+/44.1kb/9/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.102+23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF362+c.102+23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33741787">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,1:95:99:0,277,3111:127	0|0:101,0:101:99:0,303,3358:127	0|1:44,42:86:99:1230,0,1207:127
1	33741895	.	G	A	1246.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=159;MQ=69.94;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12743740;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12743740" target="_blank">rs12743740</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.103-54G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=ZNF362;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF362" target="_blank">ZNF362</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539719;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000539719;SAVANT_GENE=ZNF362;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF362" target="_blank">ZNF362</a>;SAVANT_INFO=+/44.1kb/9/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.103-54G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF362+c.103-54G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33741895">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1801:127	0|0:61,0:61:99:0,183,2314:127	0|1:29,21:50:99:642,0,966:127
1	33760743	.	T	C	15631.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4641276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4641276" target="_blank">rs4641276</a>;ExAC.Info.AC=99743;ExAC.Info.AN=126704;ExAC.Info.AF=0.787;ExAC.Info.AC_Het=20829;ExAC.Info.AC_Hom=39430;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.988-5T>C;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=ZNF362;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF362" target="_blank">ZNF362</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539719;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.988T>C;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=ZNF362;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF362" target="_blank">ZNF362</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539719;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000539719;SAVANT_GENE=ZNF362;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF362" target="_blank">ZNF362</a>;SAVANT_INFO=+/44.1kb/9/3.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.988-5T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF362+c.988-5T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33760743">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2171,198,0:127	1|1:0,91:91:99:2890,273,0:127	1|0:49,29:78:99:723,0,1361:127
1	33778063	.	G	A	2903.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs60103055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60103055" target="_blank">rs60103055</a>;ExAC.Info.AC=8141;ExAC.Info.AN=125316;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=6897;ExAC.Info.AC_Hom=463;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-415J8.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-415J83" target="_blank">RP11-415J83</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.197+39C>T;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=A3GALT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-415J83" target="_blank">RP11-415J83</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442999;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-415J83" target="_blank">RP11-415J83</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-415J83+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33778063">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,17:35:99:431,0,502:127	0|0:47,0:47:99:0,141,1600:127	1|0:23,20:43:99:573,0,655:127
1	33790496	.	G	A	844.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11554674;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11554674" target="_blank">rs11554674</a>;ExAC.Info.AC=26856;ExAC.Info.AN=126704;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20779;ExAC.Info.AC_Hom=3025;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.78-285G>A;snpeff.Gene_Name=RP11-415J8.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-415J83" target="_blank">RP11-415J83</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000587696;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2550G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-415J83" target="_blank">RP11-415J83</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419414;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2550G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-415J83" target="_blank">RP11-415J83</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419414;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr850Tyr/c.2550C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-415J83" target="_blank">RP11-415J83</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419414;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257118;SAVANT_GENE=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC2" target="_blank">PHC2</a>;SAVANT_INFO=-/52.0kb/14/3.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2547C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHC2+c.2547C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33790496">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1433:125	0|0:57,0:57:99:0,171,1839:125	0|1:21,17:38:99:441,0,648:125
1	33794416	.	T	C	3368.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72658237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72658237" target="_blank">rs72658237</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2425+55A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC2" target="_blank">PHC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419414;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2426T>C;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC2" target="_blank">PHC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419414;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2426T>C;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC2" target="_blank">PHC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419414;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257118;SAVANT_GENE=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC2" target="_blank">PHC2</a>;SAVANT_INFO=-/52.0kb/14/3.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2422+55A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHC2+c.2422+55A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33794416">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,18:39:99:607,0,687:114	1|0:29,21:50:99:596,0,883:114	0|0:38,0:38:99:0,114,1382:114
1	33796891	.	C	A	1007.04	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=35;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41265891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41265891" target="_blank">rs41265891</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2006+58G>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC2" target="_blank">PHC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419414;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257118;SAVANT_GENE=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC2" target="_blank">PHC2</a>;SAVANT_INFO=-/52.0kb/14/3.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2003+58G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHC2+c.2003+58G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33796891">View</a>	GT:AD:DP:GQ:PL:TP	0|1:6,9:15:99:213,0,134:30	1|0:6,4:10:99:120,0,223:30	0|0:10,0:10:30:0,30,373:30
1	33820033	.	C	T	2289.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs16835408;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16835408" target="_blank">rs16835408</a>;ExAC.Info.AC=14874;ExAC.Info.AN=126704;ExAC.Info.AF=0.117;ExAC.Info.AC_Het=12763;ExAC.Info.AC_Hom=1052;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96+3985C>T;snpeff.Gene_Name=RP11-415J8.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-415J85" target="_blank">RP11-415J85</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000432703;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr509Thr/c.1527G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-415J85" target="_blank">RP11-415J85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419414;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257118;SAVANT_GENE=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC2" target="_blank">PHC2</a>;SAVANT_INFO=-/52.0kb/14/3.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1524G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHC2+c.1524G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33820033">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,21:33:99:606,0,318:75	1|0:16,18:34:99:515,0,446:75	0|0:25,0:25:75:0,75,861:75
1	33820134	.	C	T	1022.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12026290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12026290" target="_blank">rs12026290</a>;ExAC.Info.AC=26355;ExAC.Info.AN=126704;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=20499;ExAC.Info.AC_Hom=2860;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96+4086C>T;snpeff.Gene_Name=RP11-415J8.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-415J85" target="_blank">RP11-415J85</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000432703;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val476Met/c.1426G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-415J85" target="_blank">RP11-415J85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419414;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257118;SAVANT_GENE=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC2" target="_blank">PHC2</a>;SAVANT_INFO=-/52.0kb/14/3.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1423G>A_p.Val475Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHC2+c.1423G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33820134">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1782:127	0|0:62,0:62:99:0,186,2158:127	0|1:16,20:36:99:530,0,456:127
1	33832865	.	A	G	22583.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6425816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6425816" target="_blank">rs6425816</a>;ExAC.Info.AC=86778;ExAC.Info.AN=126704;ExAC.Info.AF=0.685;ExAC.Info.AC_Het=26168;ExAC.Info.AC_Hom=30289;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro276Pro/c.828T>C;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC2" target="_blank">PHC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419414;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257118;SAVANT_GENE=PHC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHC2" target="_blank">PHC2</a>;SAVANT_INFO=-/52.0kb/14/3.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.828T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHC2+c.828T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33832865">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2786,249,0:127	1|1:0,98:98:99:3579,295,0:127	1|1:0,88:88:99:3075,264,0:127
1	33945192	.	T	A	2312.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs16835507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16835507" target="_blank">rs16835507</a>;ExAC.Info.AC=14231;ExAC.Info.AN=126684;ExAC.Info.AF=0.112;ExAC.Info.AC_Het=12221;ExAC.Info.AC_Hom=964;snpeff.Effect=sequence_feature[domain:SCAN_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>A;snpeff.Amino_Acid_length=1043;snpeff.Gene_Name=ZSCAN20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSCAN20" target="_blank">ZSCAN20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361328;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acA;snpeff.Amino_Acid_Change=p.Thr101Thr/c.303T>A;snpeff.Amino_Acid_length=1043;snpeff.Gene_Name=ZSCAN20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSCAN20" target="_blank">ZSCAN20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361328;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326544;SAVANT_GENE=ZSCAN20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSCAN20" target="_blank">ZSCAN20</a>;SAVANT_INFO=+/23.0kb/8/3.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.303T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZSCAN20+c.303T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33945192">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1828:127	0|1:43,38:81:99:1175,0,1096:127	0|0:75,0:75:99:0,225,2722:127
1	33957152	.	T	G	29468.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4403594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4403594" target="_blank">rs4403594</a>;ExAC.Info.AC=124588;ExAC.Info.AN=125306;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=706;ExAC.Info.AC_Hom=61807;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Gat;snpeff.Amino_Acid_Change=p.Tyr432Asp/c.1294T>G;snpeff.Amino_Acid_length=1043;snpeff.Gene_Name=ZSCAN20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSCAN20" target="_blank">ZSCAN20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361328;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326544;SAVANT_GENE=ZSCAN20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSCAN20" target="_blank">ZSCAN20</a>;SAVANT_INFO=+/23.0kb/8/3.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1294T>G_p.Tyr432Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZSCAN20+c.1294T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33957152">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3346,271,0:127	1|1:0,142:142:99:4982,427,0:127	1|1:0,109:109:99:4163,328,0:127
1	33960062	.	A	G	37446.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=576;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs9943259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9943259" target="_blank">rs9943259</a>;ExAC.Info.AC=93871;ExAC.Info.AN=126144;ExAC.Info.AF=0.744;ExAC.Info.AC_Het=22888;ExAC.Info.AC_Hom=35287;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala706Ala/c.2118A>G;snpeff.Amino_Acid_length=1043;snpeff.Gene_Name=ZSCAN20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSCAN20" target="_blank">ZSCAN20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361328;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326544;SAVANT_GENE=ZSCAN20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSCAN20" target="_blank">ZSCAN20</a>;SAVANT_INFO=+/23.0kb/8/3.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.2118A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZSCAN20+c.2118A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33960062">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,173:173:99:5802,520,0:127	1|1:0,208:208:99:7381,625,0:127	1|0:100,95:195:99:2673,0,3036:127
1	33985353	.	C	G	14758.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2641959;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2641959" target="_blank">rs2641959</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10736+59G>C;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=69;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=In69/70;SAVANT_HGVS=c.10736+59G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.10736+59G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:33985353">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2456,216,0:127	1|0:60,50:110:99:1340,0,1799:127	1|0:51,43:94:99:1151,0,1399:127
1	34024928	.	T	C	6521.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs16835591;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16835591" target="_blank">rs16835591</a>;ExAC.Info.AC=2265;ExAC.Info.AN=20506;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=1694;ExAC.Info.AC_Hom=158;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln2842Gln/c.8526A>G;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=Ex54;SAVANT_HGVS=c.8526A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.8526A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34024928">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1328,111,0:110	1|0:24,22:46:99:588,0,640:110	1|0:19,10:29:99:295,0,592:110
1	34025030	.	A	G	10393.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs16835593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16835593" target="_blank">rs16835593</a>;ExAC.Info.AC=2279;ExAC.Info.AN=21368;ExAC.Info.AF=0.107;ExAC.Info.AC_Het=1732;ExAC.Info.AC_Hom=160;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr2808Thr/c.8424T>C;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=Ex54;SAVANT_HGVS=c.8424T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.8424T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34025030">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2329,192,0:127	1|0:46,34:80:99:912,0,1349:127	1|0:46,24:70:99:571,0,1233:127
1	34038214	.	T	C	1158.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2641962;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2641962" target="_blank">rs2641962</a>;ExAC.Info.AC=63130;ExAC.Info.AN=126704;ExAC.Info.AF=0.498;ExAC.Info.AC_Het=30471;ExAC.Info.AC_Hom=16324;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met2552Val/c.7654A>G;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=Ex50;SAVANT_HGVS=c.7654A>G_p.Met2552Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.7654A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34038214">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1892:127	0|0:60,0:60:99:0,180,1974:127	0|1:27,19:46:99:598,0,730:127
1	34071434	.	C	T	1102.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=65;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1874044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1874044" target="_blank">rs1874044</a>;ExAC.Info.AC=70687;ExAC.Info.AN=126364;ExAC.Info.AF=0.559;ExAC.Info.AC_Het=25476;ExAC.Info.AC_Hom=17248;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6344-364G>A;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.6344-364G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.6344-364G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34071434">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,0:18:54:0,54,659:52	0|1:11,17:28:99:570,0,352:52	0|0:19,0:19:57:0,57,721:52
1	34071525	.	C	T	1574.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1874045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1874045" target="_blank">rs1874045</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=72428;ExAC.Info.AN=126700;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=29922;ExAC.Info.AC_Hom=21151;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6344-455G>A;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.6344-455G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.6344-455G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34071525">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1581:127	0|1:34,28:62:99:806,0,1028:127	0|0:50,0:50:99:0,150,1686:127
1	34090679	.	T	C	2584.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs16835683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16835683" target="_blank">rs16835683</a>;ExAC.Info.AC=9792;ExAC.Info.AN=126702;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=8885;ExAC.Info.AC_Hom=447;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln1824Gln/c.5472A>G;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.5472A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.5472A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34090679">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,297,3248:127	0|0:76,0:76:99:0,228,2656:127	0|1:29,43:72:99:1311,0,864:127
1	34189917	.	C	T	7963.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs519370;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=519370" target="_blank">rs519370</a>;ExAC.Info.AC=90204;ExAC.Info.AN=126692;ExAC.Info.AF=0.712;ExAC.Info.AC_Het=24411;ExAC.Info.AC_Hom=32367;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2885-4G>A;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2885G>A;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2885-4G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.2885-4G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34189917">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:935,87,0:86	1|1:0,41:41:99:1303,123,0:86	1|0:23,24:47:99:746,0,712:86
1	34254108	.	C	CA	552.65	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=51;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs34557326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34557326" target="_blank">rs34557326</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1663+93_1663+92insT;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1663+92dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.1663+92dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34254108">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,13:22:75:121,0,75:4	0|0:14,3:17:2:0,2,143:4	1|0:8,4:12:29:29,0,61:4
1	34270498	.	G	A	20941.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10737374;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10737374" target="_blank">rs10737374</a>;ExAC.Info.AC=16252;ExAC.Info.AN=20916;ExAC.Info.AF=0.777;ExAC.Info.AC_Het=2274;ExAC.Info.AC_Hom=5690;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1446+5846C>T;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1446+5846C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.1446+5846C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34270498">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:2848,270,0:127	1|0:57,76:133:99:2042,0,1514:127	1|1:0,86:86:99:2953,258,0:127
1	34285342	.	G	A	9992.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs17342512;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17342512" target="_blank">rs17342512</a>;ExAC.Info.AC=69835;ExAC.Info.AN=126698;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=31159;ExAC.Info.AC_Hom=19144;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala432Ala/c.1296C>T;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1296C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.1296C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34285342">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1502,120,0:119	1|0:15,23:38:99:683,0,484:119	1|1:0,46:46:99:1670,138,0:119
1	34285381	.	C	T	15341.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs11578857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11578857" target="_blank">rs11578857</a>;ExAC.Info.AC=69970;ExAC.Info.AN=126704;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=31139;ExAC.Info.AC_Hom=19373;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys419Lys/c.1257G>A;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1257G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.1257G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34285381">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2224,195,0:127	1|0:36,39:75:99:1086,0,1102:127	1|1:0,72:72:99:2444,216,0:127
1	34286166	.	CA	C	5048.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs5773432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5773432" target="_blank">rs5773432</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1112-10delT;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373381;SAVANT_GENE=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;SAVANT_INFO=-/651.3kb/71/13.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1112-10delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2+c.1112-10delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34286166">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:89:970,89,0:78	1|0:8,11:19:99:295,0,250:78	1|1:0,25:25:79:829,79,0:78
1	34329897	.	T	C	27666.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs911218;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=911218" target="_blank">rs911218</a>;ExAC.Info.AC=123037;ExAC.Info.AN=126694;ExAC.Info.AF=0.971;ExAC.Info.AC_Het=3439;ExAC.Info.AC_Hom=59641;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.921-17300A>G;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:HMG_box_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.105T>C;snpeff.Amino_Acid_length=186;snpeff.Gene_Name=HMGB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000519684;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr35Tyr/c.105T>C;snpeff.Amino_Acid_length=186;snpeff.Gene_Name=HMGB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000519684;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381:ENST00000522796;SAVANT_GENE=CSMD2:HMGB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2:HMGB4" target="_blank">CSMD2:HMGB4</a>;SAVANT_INFO=-/651.3kb/71/13.7kb:+/4.3kb/4/2.5kb;SAVANT_LOC=In5/6:Ex4;SAVANT_HGVS=c.921-17300A>G:c.105T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2:HMGB4+c.921-17300A>G:c.105T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34329897">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3480,286,0:127	1|1:0,118:118:99:4321,354,0:127	1|1:0,109:109:99:3908,327,0:127
1	34330067	.	A	C	38288.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=432;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10379" target="_blank">rs10379</a>;ExAC.Info.AC=104496;ExAC.Info.AN=126686;ExAC.Info.AF=0.825;ExAC.Info.AC_Het=17575;ExAC.Info.AC_Hom=43310;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.921-17470T>G;snpeff.Amino_Acid_length=3631;snpeff.Gene_Name=CSMD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373381;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gCa;snpeff.Amino_Acid_Change=p.Glu92Ala/c.275A>C;snpeff.Amino_Acid_length=186;snpeff.Gene_Name=HMGB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2" target="_blank">CSMD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000519684;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373381:ENST00000522796;SAVANT_GENE=CSMD2:HMGB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSMD2:HMGB4" target="_blank">CSMD2:HMGB4</a>;SAVANT_INFO=-/651.3kb/71/13.7kb:+/4.3kb/4/2.5kb;SAVANT_LOC=In5/6:Ex4;SAVANT_HGVS=c.921-17470T>G:c.275A>C_p.Glu92Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSMD2:HMGB4+c.921-17470T>G:c.275A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:34330067">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4704,373,0:127	1|1:0,175:175:99:6329,526,0:127	1|1:0,133:133:99:4872,399,0:127
1	35184033	.	C	T	11835.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs693582;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=693582" target="_blank">rs693582</a>;ExAC.Info.AC=10636;ExAC.Info.AN=15398;ExAC.Info.AF=0.691;ExAC.Info.AC_Het=2112;ExAC.Info.AC_Hom=3289;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMIM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMIM12+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35184033">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1905,156,0:124	1|1:0,43:43:99:1531,129,0:124	1|1:0,42:42:99:1563,126,0:124
1	35223345	.	G	A	2858.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3738345;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738345" target="_blank">rs3738345</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=30134;ExAC.Info.AN=126702;ExAC.Info.AF=0.238;ExAC.Info.AC_Het=22181;ExAC.Info.AC_Hom=3956;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMIM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414G>A;snpeff.Amino_Acid_length=273;snpeff.Gene_Name=GJB5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338513;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys138Lys/c.414G>A;snpeff.Amino_Acid_length=273;snpeff.Gene_Name=GJB5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338513;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338513;SAVANT_GENE=GJB5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJB5" target="_blank">GJB5</a>;SAVANT_INFO=+/3.5kb/2/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.414G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJB5+c.414G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35223345">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2336:127	0|1:58,49:107:99:1448,0,1756:127	0|0:69,0:69:99:0,207,2482:127
1	35223546	.	C	T	4238.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72655770;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72655770" target="_blank">rs72655770</a>;ExAC.Info.AC=27;ExAC.Info.AN=126704;ExAC.Info.AF=2.131e-04;ExAC.Info.AC_Het=27;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMIM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.615C>T;snpeff.Amino_Acid_length=273;snpeff.Gene_Name=GJB5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338513;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu205Leu/c.615C>T;snpeff.Amino_Acid_length=273;snpeff.Gene_Name=GJB5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338513;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338513;SAVANT_GENE=GJB5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJB5" target="_blank">GJB5</a>;SAVANT_INFO=+/3.5kb/2/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.615C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJB5+c.615C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35223546">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,385,4851:127	0|0:197,1:198:99:0,560,7243:127	0|1:76,76:152:99:2138,0,2312:127
1	35251219	.	C	A	5076.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Erythrokeratodermia_variabilis_et_progressiva|_133200_(3)|_Deafness|_autosomal_dominant_2B|_612644_(3)|_Deafness|_autosomal_recessive_(3)|_Deafness|_autosomal_dominant|_with_peripheral_neuropathy_(3)|_Deafness|_digenic|_GJB2/GJB3|_220290_(3);dbSNP139.ID=rs41266429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41266429" target="_blank">rs41266429</a>;ExAC.Info.AC=13820;ExAC.Info.AN=126534;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=11287;ExAC.Info.AC_Hom=799;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMIM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.110+2370G>T;snpeff.Gene_Name=RP1-34M23.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000542839;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=43;snpeff.Amino_Acid_Change=c.*43C>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=GJB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373362;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373366;SAVANT_GENE=GJB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJB3" target="_blank">GJB3</a>;SAVANT_INFO=+/5.2kb/2/2.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*43C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJB3+c.*43C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35251219">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,37:60:99:1092,0,1166:127	0|0:85,0:85:99:0,256,4773:127	1|0:26,29:55:99:916,0,769:127
1	35251229	.	G	A	8663.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Erythrokeratodermia_variabilis_et_progressiva|_133200_(3)|_Deafness|_autosomal_dominant_2B|_612644_(3)|_Deafness|_autosomal_recessive_(3)|_Deafness|_autosomal_dominant|_with_peripheral_neuropathy_(3)|_Deafness|_digenic|_GJB2/GJB3|_220290_(3);dbSNP139.ID=rs476220;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=476220" target="_blank">rs476220</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMIM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.110+2360C>T;snpeff.Gene_Name=RP1-34M23.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000542839;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=53;snpeff.Amino_Acid_Change=c.*53G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=GJB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373362;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373366;SAVANT_GENE=GJB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJB3" target="_blank">GJB3</a>;SAVANT_INFO=+/5.2kb/2/2.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*53G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJB3+c.*53G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35251229">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,28:54:99:1141,0,642:127	0|0:80,0:80:99:0,240,2782:127	1|1:0,54:54:99:2193,165,0:127
1	35259946	.	G	A	3408.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=458;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1764389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1764389" target="_blank">rs1764389</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=26093;ExAC.Info.AN=126704;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=19597;ExAC.Info.AC_Hom=3244;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMIM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132G>A;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val44Val/c.132G>A;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342280;SAVANT_GENE=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA4" target="_blank">GJA4</a>;SAVANT_INFO=+/2.8kb/2/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.132G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJA4+c.132G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35259946">View</a>	GT:AD:DP:GQ:PL:TP	0|0:143,0:143:99:0,429,5249:127	0|0:166,0:166:99:0,499,6328:127	0|1:83,66:149:99:1723,0,2675:127
1	35259961	.	A	G	33876.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=502;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1764390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1764390" target="_blank">rs1764390</a>;ExAC.Info.AC=78396;ExAC.Info.AN=126704;ExAC.Info.AF=0.619;ExAC.Info.AC_Het=28449;ExAC.Info.AC_Hom=24968;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMIM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.147A>G;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln49Gln/c.147A>G;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342280;SAVANT_GENE=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA4" target="_blank">GJA4</a>;SAVANT_INFO=+/2.8kb/2/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.147A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJA4+c.147A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35259961">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,155:155:99:5655,466,0:127	1|0:109,76:185:99:2247,0,3237:127	1|1:0,162:162:99:5951,487,0:127
1	35260202	.	G	A	9244.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=414;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41266431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41266431" target="_blank">rs41266431</a>;ExAC.Info.AC=12130;ExAC.Info.AN=126650;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=10393;ExAC.Info.AC_Hom=814;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMIM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388G>A;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val130Ile/c.388G>A;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342280;SAVANT_GENE=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA4" target="_blank">GJA4</a>;SAVANT_INFO=+/2.8kb/2/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.388G>A_p.Val130Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJA4+c.388G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35260202">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,71:137:99:1915,0,1955:127	0|0:165,0:165:99:0,499,5881:127	1|0:47,65:112:99:1966,0,1292:127
1	35260769	.	C	T	3516.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1764391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1764391" target="_blank">rs1764391</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Atherosclerosis|_association_with;hgmd_2014.2.OMIM_ID=121012;hgmd_2014.2.PubMed=10447790;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10447790" target="_blank">10447790</a>;ExAC.Info.AC=39387;ExAC.Info.AN=126694;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=25794;ExAC.Info.AC_Hom=6701;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMIM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.955C>T;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro319Ser/c.955C>T;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMIM12" target="_blank">SMIM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342280;SAVANT_GENE=GJA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA4" target="_blank">GJA4</a>;SAVANT_INFO=+/2.8kb/2/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.955C>T_p.Pro319Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJA4+c.955C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35260769">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,274,3315:127	0|0:95,0:95:99:0,285,3302:127	0|1:43,67:110:99:1777,0,1179:127
1	35350573	.	CT	C	8198.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs34565935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34565935" target="_blank">rs34565935</a>;ExAC.Info.AC=12872;ExAC.Info.AN=126702;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=11260;ExAC.Info.AC_Hom=805;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2000+5delA;snpeff.Amino_Acid_length=979;snpeff.Gene_Name=DLGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLGAP3" target="_blank">DLGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373347;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2001delA;snpeff.Amino_Acid_length=979;snpeff.Gene_Name=DLGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLGAP3" target="_blank">DLGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373347;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373347;SAVANT_GENE=DLGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLGAP3" target="_blank">DLGAP3</a>;SAVANT_INFO=-/64.2kb/12/3.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.2000+5delA;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DLGAP3+c.2000+5delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35350573">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,41:97:99:1166,0,1680:127	1|0:59,52:111:99:1515,0,1746:127	0|0:77,1:78:99:0,199,2697:127
1	35351052	.	C	A	11744.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=578;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs141871603;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141871603" target="_blank">rs141871603</a>;ExAC.Info.AC=1630;ExAC.Info.AN=125506;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1485;ExAC.Info.AC_Hom=15;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1914+27G>T;snpeff.Amino_Acid_length=979;snpeff.Gene_Name=DLGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLGAP3" target="_blank">DLGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373347;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373347;SAVANT_GENE=DLGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLGAP3" target="_blank">DLGAP3</a>;SAVANT_INFO=-/64.2kb/12/3.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1914+27G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DLGAP3+c.1914+27G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35351052">View</a>	GT:AD:DP:GQ:PL:TP	1|0:92,97:189:99:2591,0,2642:127	0|0:219,0:219:99:0,658,7711:127	1|0:94,76:170:99:2153,0,2791:127
1	35384605	.	C	T	24595.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6699355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6699355" target="_blank">rs6699355</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-135+10447G>A;snpeff.Amino_Acid_length=979;snpeff.Gene_Name=DLGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLGAP3" target="_blank">DLGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373347;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373347;SAVANT_GENE=DLGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLGAP3" target="_blank">DLGAP3</a>;SAVANT_INFO=-/64.2kb/12/3.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-13621G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DLGAP3+c.-13621G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35384605">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:2891,285,0:127	1|1:0,128:128:99:4278,385,0:127	1|1:0,86:86:99:2852,258,0:127
1	35561510	.	G	A	14691.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2101973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2101973" target="_blank">rs2101973</a>;ExAC.Info.AC=95432;ExAC.Info.AN=125100;ExAC.Info.AF=0.763;ExAC.Info.AC_Het=17657;ExAC.Info.AC_Hom=38843;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.169+18G>A;snpeff.Amino_Acid_length=1142;snpeff.Gene_Name=ZMYM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYM1" target="_blank">ZMYM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373330;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373330;SAVANT_GENE=ZMYM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYM1" target="_blank">ZMYM1</a>;SAVANT_INFO=+/36.5kb/11/4.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.169+18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZMYM1+c.169+18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35561510">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2460,222,0:127	1|1:0,71:71:99:2356,213,0:127	1|1:0,58:58:99:1981,174,0:127
1	35562965	.	G	A	61361.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=840;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2971408;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2971408" target="_blank">rs2971408</a>;ExAC.Info.AC=111050;ExAC.Info.AN=126222;ExAC.Info.AF=0.880;ExAC.Info.AC_Het=12580;ExAC.Info.AC_Hom=49049;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val73Met/c.217G>A;snpeff.Amino_Acid_length=1142;snpeff.Gene_Name=ZMYM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYM1" target="_blank">ZMYM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373330;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373330;SAVANT_GENE=ZMYM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYM1" target="_blank">ZMYM1</a>;SAVANT_INFO=+/36.5kb/11/4.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.217G>A_p.Val73Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZMYM1+c.217G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35562965">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,253:253:99:8419,760,0:127	1|1:0,319:319:99:10736,958,0:127	1|1:1,267:268:99:9117,795,0:127
1	35847103	.	G	C	2312.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7515563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7515563" target="_blank">rs7515563</a>;ExAC.Info.AC=2858;ExAC.Info.AN=126682;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2774;ExAC.Info.AC_Hom=38;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1357-44G>C;snpeff.Amino_Acid_length=1548;snpeff.Gene_Name=ZMYM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYM4" target="_blank">ZMYM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314607;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYM-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357G>C;snpeff.Amino_Acid_length=1548;snpeff.Gene_Name=ZMYM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYM4" target="_blank">ZMYM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314607;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYM-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357G>C;snpeff.Amino_Acid_length=1548;snpeff.Gene_Name=ZMYM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYM4" target="_blank">ZMYM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314607;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314607;SAVANT_GENE=ZMYM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYM4" target="_blank">ZMYM4</a>;SAVANT_INFO=+/153.0kb/30/7.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1357-44G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZMYM4+c.1357-44G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35847103">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,256,3224:127	0|0:115,0:115:99:0,345,4359:127	0|1:37,36:73:99:1175,0,1320:127
1	35864011	.	T	C	3548.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs188491753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=188491753" target="_blank">rs188491753</a>;ExAC.Info.AC=148;ExAC.Info.AN=126592;ExAC.Info.AF=1.169e-03;ExAC.Info.AC_Het=148;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3200-3T>C;snpeff.Amino_Acid_length=1548;snpeff.Gene_Name=ZMYM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYM4" target="_blank">ZMYM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314607;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3200T>C;snpeff.Amino_Acid_length=1548;snpeff.Gene_Name=ZMYM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYM4" target="_blank">ZMYM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314607;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314607;SAVANT_GENE=ZMYM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYM4" target="_blank">ZMYM4</a>;SAVANT_INFO=+/153.0kb/30/7.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.3200-3T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZMYM4+c.3200-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35864011">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,336,3568:127	0|0:140,0:140:99:0,420,4479:127	0|1:59,64:123:99:1793,0,1553:127
1	35926075	.	C	T	3018.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72659616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72659616" target="_blank">rs72659616</a>;ExAC.Info.AC=2288;ExAC.Info.AN=126676;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2223;ExAC.Info.AC_Hom=32;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1295-37G>A;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PKD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PKD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PKD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295C>T;snpeff.Amino_Acid_length=1049;snpeff.Gene_Name=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325722;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325722;SAVANT_GENE=KIAA0319L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0319L" target="_blank">KIAA0319L</a>;SAVANT_INFO=-/123.9kb/21/4.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1295-37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0319L+c.1295-37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:35926075">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,288,3185:127	0|0:118,0:118:99:0,354,3954:127	0|1:65,53:118:99:1528,0,1853:127
1	36202585	.	G	A	2946.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35490896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35490896" target="_blank">rs35490896</a>;ExAC.Info.AC=7078;ExAC.Info.AN=126704;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=6592;ExAC.Info.AC_Hom=243;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCa/tTa;snpeff.Amino_Acid_Change=p.Ser1280Leu/c.3839C>T;snpeff.Amino_Acid_length=1339;snpeff.Gene_Name=CLSPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSPN" target="_blank">CLSPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318121;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318121;SAVANT_GENE=CLSPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSPN" target="_blank">CLSPN</a>;SAVANT_INFO=-/33.5kb/25/4.2kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.3839C>T_p.Ser1280Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLSPN+c.3839C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36202585">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,291,3399:127	0|0:130,0:130:99:0,391,4794:127	0|1:50,54:104:99:1492,0,1593:127
1	36203659	.	TTTC	T	2723.71	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs200760879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200760879" target="_blank">rs200760879</a>;ExAC.Info.AC=6180;ExAC.Info.AN=126704;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5788;ExAC.Info.AC_Hom=194;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gaa/;snpeff.Amino_Acid_Change=p.Glu1199del/c.3595_3597delGAA;snpeff.Amino_Acid_length=1339;snpeff.Gene_Name=CLSPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSPN" target="_blank">CLSPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318121;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000318121;SAVANT_GENE=CLSPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSPN" target="_blank">CLSPN</a>;SAVANT_INFO=-/33.5kb/25/4.2kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.3595_3597delGAA_p.Glu1199del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLSPN+c.3595_3597delGAA+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36203659">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,2514:127	0|0:78,0:78:99:0,233,3497:127	0|1:37,36:73:99:1385,0,1443:127
1	36213712	.	G	T	9680.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs516992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=516992" target="_blank">rs516992</a>;ExAC.Info.AC=125875;ExAC.Info.AN=126610;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=637;ExAC.Info.AC_Hom=60638;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2473-50C>A;snpeff.Amino_Acid_length=1339;snpeff.Gene_Name=CLSPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSPN" target="_blank">CLSPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318121;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318121;SAVANT_GENE=CLSPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSPN" target="_blank">CLSPN</a>;SAVANT_INFO=-/33.5kb/25/4.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2473-50C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLSPN+c.2473-50C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36213712">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1335,117,0:86	1|1:0,48:48:99:1718,144,0:86	1|1:0,29:29:87:1036,87,0:86
1	36225948	.	T	C	4486.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=429;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7537203;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7537203" target="_blank">rs7537203</a>;ExAC.Info.AC=33705;ExAC.Info.AN=126680;ExAC.Info.AF=0.266;ExAC.Info.AC_Het=18770;ExAC.Info.AC_Hom=7426;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn525Ser/c.1574A>G;snpeff.Amino_Acid_length=1339;snpeff.Gene_Name=CLSPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSPN" target="_blank">CLSPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318121;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318121;SAVANT_GENE=CLSPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLSPN" target="_blank">CLSPN</a>;SAVANT_INFO=-/33.5kb/25/4.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1574A>G_p.Asn525Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLSPN+c.1574A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36225948">View</a>	GT:AD:DP:GQ:PL:TP	0|0:140,0:140:99:0,424,4734:127	0|0:143,0:143:99:0,430,5047:127	0|1:72,74:146:99:2262,0,1943:127
1	36282417	.	A	G	9625.55	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2791960;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2791960" target="_blank">rs2791960</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.20-66A>G;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373210;SAVANT_GENE=EIF2C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2C4" target="_blank">EIF2C4</a>;SAVANT_INFO=+/49.7kb/18/7.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.20-66A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2C4+c.20-66A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36282417">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,54:73:99:1592,0,487:127	0/1:19,73:92:99:2107,0,316:127	0/1:26,28:54:99:674,0,735:127
1	36282427	.	G	A	376.77	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.20-56G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373210;SAVANT_GENE=EIF2C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2C4" target="_blank">EIF2C4</a>;SAVANT_INFO=+/49.7kb/18/7.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.20-56G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2C4+c.20-56G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36282427">View</a>	GT:AD:DP:GQ:PL:TP	0|1:75,17:92:99:380,0,3171:86	1|0:112,12:124:18:18,0,4804:86	0|0:74,4:78:87:0,87,3444:86
1	36282431	.	G	A	328.23	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.20-52G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373210;SAVANT_GENE=EIF2C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2C4" target="_blank">EIF2C4</a>;SAVANT_INFO=+/49.7kb/18/7.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.20-52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2C4+c.20-52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36282431">View</a>	GT:AD:DP:GQ:PL:TP	0|1:81,17:98:99:361,0,3504:48	1|0:125,12:137:0:0,16,5486:48	0|0:82,6:88:65:0,65,3578:48
1	36282435	.	G	A	298.15	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=427;ExAC.Info.AN=126512;ExAC.Info.AF=3.375e-03;ExAC.Info.AC_Het=417;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.20-48G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373210;SAVANT_GENE=EIF2C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2C4" target="_blank">EIF2C4</a>;SAVANT_INFO=+/49.7kb/18/7.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.20-48G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2C4+c.20-48G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36282435">View</a>	GT:AD:DP:GQ:PL:TP	0|1:93,19:112:99:331,0,3911:16	1|0:138,15:153:0:0,32,5736:16	0|0:85,14:99:48:0,48,3737:16
1	36282441	.	G	A	279.11	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.20-42G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373210;SAVANT_GENE=EIF2C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2C4" target="_blank">EIF2C4</a>;SAVANT_INFO=+/49.7kb/18/7.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.20-42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2C4+c.20-42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36282441">View</a>	GT:AD:DP:GQ:PL:TP	0|1:105,20:125:99:321,0,4130:5	1|0:149,16:165:0:0,58,6023:5	0|0:90,16:106:62:0,62,3927:5
1	36316418	.	C	CA	7357.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11403763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11403763" target="_blank">rs11403763</a>;ExAC.Info.AC=102213;ExAC.Info.AN=126258;ExAC.Info.AF=0.810;ExAC.Info.AC_Het=13980;ExAC.Info.AC_Hom=26930;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2278-36_2278-35insA;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278_2279insA;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278_2279insA;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278_2279insA;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278_2279insA;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278_2279insA;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278_2279insA;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373210;SAVANT_GENE=EIF2C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2C4" target="_blank">EIF2C4</a>;SAVANT_INFO=+/49.7kb/18/7.1kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2278-27dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2C4+c.2278-27dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36316418">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,38:39:95:1094,95,0:47	1|1:4,49:53:47:1204,47,0:47	1|1:0,31:31:96:871,96,0:47
1	36316571	.	A	C	17058.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4652895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4652895" target="_blank">rs4652895</a>;ExAC.Info.AC=90689;ExAC.Info.AN=126704;ExAC.Info.AF=0.716;ExAC.Info.AC_Het=18540;ExAC.Info.AC_Hom=36039;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2394A>C;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2394A>C;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2394A>C;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2394A>C;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2394A>C;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Piwi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2394A>C;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcC;snpeff.Amino_Acid_Change=p.Ser798Ser/c.2394A>C;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=AGO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO4" target="_blank">AGO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373210;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373210;SAVANT_GENE=EIF2C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2C4" target="_blank">EIF2C4</a>;SAVANT_INFO=+/49.7kb/18/7.1kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2394A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2C4+c.2394A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36316571">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:2983,256,0:127	1|1:0,86:86:99:2965,258,0:127	1|0:39,44:83:99:1325,0,1313:127
1	36367581	.	C	T	5711.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72661614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72661614" target="_blank">rs72661614</a>;ExAC.Info.AC=178;ExAC.Info.AN=126696;ExAC.Info.AF=1.405e-03;ExAC.Info.AC_Het=174;ExAC.Info.AC_Hom=2;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=857;snpeff.Gene_Name=AGO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO1" target="_blank">AGO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373204;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr391Tyr/c.1173C>T;snpeff.Amino_Acid_length=857;snpeff.Gene_Name=AGO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO1" target="_blank">AGO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373204;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373204;SAVANT_GENE=EIF2C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2C1" target="_blank">EIF2C1</a>;SAVANT_INFO=+/41.1kb/19/7.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1173C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2C1+c.1173C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36367581">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,43:78:99:1222,0,972:127	1|0:50,42:92:99:1078,0,1566:127	0|0:81,0:81:99:0,243,2939:127
1	36367780	.	A	G	6394.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs595961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=595961" target="_blank">rs595961</a>;ExAC.Info.AC=38108;ExAC.Info.AN=126666;ExAC.Info.AF=0.301;ExAC.Info.AC_Het=19021;ExAC.Info.AC_Hom=9393;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1264-25A>G;snpeff.Amino_Acid_length=857;snpeff.Gene_Name=AGO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO1" target="_blank">AGO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373204;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1264A>G;snpeff.Amino_Acid_length=857;snpeff.Gene_Name=AGO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO1" target="_blank">AGO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373204;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1264A>G;snpeff.Amino_Acid_length=857;snpeff.Gene_Name=AGO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGO1" target="_blank">AGO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373204;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373204;SAVANT_GENE=EIF2C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2C1" target="_blank">EIF2C1</a>;SAVANT_INFO=+/41.1kb/19/7.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1264-25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2C1+c.1264-25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36367780">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,294,3369:127	0|1:68,46:114:99:1429,0,2116:127	0|1:59,55:114:99:1788,0,1663:127
1	36474632	.	A	C	84.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75667149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75667149" target="_blank">rs75667149</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=6517;ExAC.Info.AN=124904;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=5851;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP4-665N4.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-665N48" target="_blank">RP4-665N48</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1016A>C;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=AGO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-665N48" target="_blank">RP4-665N48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373191;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1016A>C;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=AGO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-665N48" target="_blank">RP4-665N48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373191;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1016A>C;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=AGO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-665N48" target="_blank">RP4-665N48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373191;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1016A>C;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=AGO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-665N48" target="_blank">RP4-665N48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373191;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAc/tCc;snpeff.Amino_Acid_Change=p.Tyr339Ser/c.1016A>C;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=AGO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-665N48" target="_blank">RP4-665N48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373191;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373191;SAVANT_GENE=EIF2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2C3" target="_blank">EIF2C3</a>;SAVANT_INFO=+/125.4kb/19/3.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1016A>C_p.Tyr339Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2C3+c.1016A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36474632">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,13:54:57:57,0,1127:24	1|0:52,11:63:0:0,32,1457:24	0|0:35,3:38:73:0,73,1051:24
1	36552293	.	C	T	1460.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72661665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72661665" target="_blank">rs72661665</a>;ExAC.Info.AC=7;ExAC.Info.AN=126704;ExAC.Info.AF=5.525e-05;ExAC.Info.AC_Het=7;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.489-12C>T;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=TEKT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEKT2" target="_blank">TEKT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000207457;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000207457;SAVANT_GENE=TEKT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEKT2" target="_blank">TEKT2</a>;SAVANT_INFO=+/4.2kb/10/1.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.489-12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TEKT2+c.489-12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36552293">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,249,2887:127	0|0:78,0:78:99:0,235,2851:127	0|1:37,29:66:99:749,0,1095:127
1	36553673	.	A	G	32174.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=437;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs399393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=399393" target="_blank">rs399393</a>;ExAC.Info.AC=116736;ExAC.Info.AN=126338;ExAC.Info.AF=0.924;ExAC.Info.AC_Het=8491;ExAC.Info.AC_Hom=53136;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr393Thr/c.1179A>G;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=TEKT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEKT2" target="_blank">TEKT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000207457;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000207457;SAVANT_GENE=TEKT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEKT2" target="_blank">TEKT2</a>;SAVANT_INFO=+/4.2kb/10/1.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1179A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TEKT2+c.1179A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36553673">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4604,399,0:127	1|1:1,173:174:99:5812,482,0:127	1|0:63,67:130:99:1981,0,1731:127
1	36563158	.	C	A	24711.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=479;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Corneal_dystrophy|_Fuchs_endothelial|_1|_136800_(3)|_Corneal_dystrophy_polymorphous_posterior|_2|_609140_(3);dbSNP139.ID=rs3738360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738360" target="_blank">rs3738360</a>;ExAC.Info.AC=100655;ExAC.Info.AN=126236;ExAC.Info.AF=0.797;ExAC.Info.AC_Het=16568;ExAC.Info.AC_Hom=40658;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.*12G>T;snpeff.Amino_Acid_length=703;snpeff.Gene_Name=COL8A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL8A2" target="_blank">COL8A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397799;SAVANT_GENE=COL8A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL8A2" target="_blank">COL8A2</a>;SAVANT_INFO=-/30.0kb/4/4.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*12G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL8A2+c.*12G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36563158">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,145:146:99:3954,400,0:127	1|1:0,185:185:99:5247,550,0:127	1|0:83,65:148:99:1339,0,2415:127
1	36565175	.	G	A	10353.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Corneal_dystrophy|_Fuchs_endothelial|_1|_136800_(3)|_Corneal_dystrophy_polymorphous_posterior|_2|_609140_(3);dbSNP139.ID=rs66899567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66899567" target="_blank">rs66899567</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.194-87C>T;snpeff.Amino_Acid_length=703;snpeff.Gene_Name=COL8A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL8A2" target="_blank">COL8A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397799;SAVANT_GENE=COL8A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL8A2" target="_blank">COL8A2</a>;SAVANT_INFO=-/30.0kb/4/4.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.194-87C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL8A2+c.194-87C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36565175">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,42:74:99:1302,0,966:127	0/1:57,52:109:99:1634,0,1611:127	0/1:44,53:97:99:1638,0,1426:127
1	36565617	.	G	A	13652.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Corneal_dystrophy|_Fuchs_endothelial|_1|_136800_(3)|_Corneal_dystrophy_polymorphous_posterior|_2|_609140_(3);dbSNP139.ID=rs274754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=274754" target="_blank">rs274754</a>;ExAC.Info.AC=82017;ExAC.Info.AN=126570;ExAC.Info.AF=0.648;ExAC.Info.AC_Het=24282;ExAC.Info.AC_Hom=28308;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.193+34C>T;snpeff.Amino_Acid_length=703;snpeff.Gene_Name=COL8A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL8A2" target="_blank">COL8A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397799;SAVANT_GENE=COL8A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL8A2" target="_blank">COL8A2</a>;SAVANT_INFO=-/30.0kb/4/4.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.193+34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL8A2+c.193+34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36565617">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1675,150,0:127	1|0:43,47:90:99:1480,0,1126:127	1|1:0,51:51:99:1794,153,0:127
1	36643700	.	GAGA	G	2673.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs141305015;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141305015" target="_blank">rs141305015</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=6261;ExAC.Info.AN=125606;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=4371;ExAC.Info.AC_Hom=185;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1607_1609delAGA;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=MAP7D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP7D1" target="_blank">MAP7D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373151;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1607_1609delAGA;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=MAP7D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP7D1" target="_blank">MAP7D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373151;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gagaag/gag;snpeff.Amino_Acid_Change=p.Glu536_Lys537del/c.1607_1609delAGA;snpeff.Amino_Acid_length=841;snpeff.Gene_Name=MAP7D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP7D1" target="_blank">MAP7D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373151;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373151;SAVANT_GENE=MAP7D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP7D1" target="_blank">MAP7D1</a>;SAVANT_INFO=+/24.6kb/17/3.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1609_1611delAAG_p.Lys537del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAP7D1+c.1609_1611delAAG+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36643700">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,13:31:99:483,0,804:127	0|0:43,0:43:99:0,129,2196:127	1|0:14,8:22:99:294,0,648:127
1	36752152	.	C	T	5954.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2242428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2242428" target="_blank">rs2242428</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=41727;ExAC.Info.AN=126702;ExAC.Info.AF=0.329;ExAC.Info.AC_Het=25834;ExAC.Info.AC_Hom=7942;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321C>T;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469141;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321C>T;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469141;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321C>T;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469141;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321C>T;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469141;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_mRNA_splicing_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321C>T;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469141;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_mRNA_splicing_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321C>T;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469141;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr107Tyr/c.321C>T;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469141;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354618;SAVANT_GENE=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;SAVANT_INFO=+/80.9kb/12/4.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.321C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THRAP3+c.321C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36752152">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,232,2884:127	0|1:59,49:108:99:1422,0,1960:127	0|1:39,50:89:99:1575,0,1267:127
1	36752433	.	C	T	18308.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=221;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6425977;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6425977" target="_blank">rs6425977</a>;ExAC.Info.AC=109349;ExAC.Info.AN=126698;ExAC.Info.AF=0.863;ExAC.Info.AC_Het=13743;ExAC.Info.AC_Hom=47771;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.602C>T;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469141;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.602C>T;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469141;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala201Val/c.602C>T;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469141;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354618;SAVANT_GENE=THRAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THRAP3" target="_blank">THRAP3</a>;SAVANT_INFO=+/80.9kb/12/4.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.602C>T_p.Ala201Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THRAP3+c.602C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36752433">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2513,225,0:127	1|1:0,80:80:99:2850,241,0:127	1|1:0,66:66:99:2289,198,0:127
1	36773405	.	T	G	16766.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs35343437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35343437" target="_blank">rs35343437</a>;ExAC.Info.AC=12229;ExAC.Info.AN=29176;ExAC.Info.AF=0.419;ExAC.Info.AC_Het=5828;ExAC.Info.AC_Hom=2681;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccG;snpeff.Amino_Acid_Change=p.Pro157Pro/c.471T>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453908;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000453908;SAVANT_GENE=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;SAVANT_INFO=+/15.0kb/16/2.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.471T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3D21+c.471T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36773405">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3254,288,0:127	1|0:56,57:113:99:1657,0,1677:127	1|0:47,58:105:99:1666,0,1178:127
1	36773819	.	C	G	15703.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11263871;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11263871" target="_blank">rs11263871</a>;ExAC.Info.AC=25859;ExAC.Info.AN=26560;ExAC.Info.AF=0.974;ExAC.Info.AC_Het=383;ExAC.Info.AC_Hom=8936;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.639+9C>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453908;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640C>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453908;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640C>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453908;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000453908;SAVANT_GENE=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;SAVANT_INFO=+/15.0kb/16/2.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.639+9C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3D21+c.639+9C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36773819">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1854,156,0:127	1|1:0,75:75:99:2584,224,0:127	1|1:0,65:65:99:2161,195,0:127
1	36785270	.	C	T	5216.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2282431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282431" target="_blank">rs2282431</a>;ExAC.Info.AC=36333;ExAC.Info.AN=125358;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=16728;ExAC.Info.AC_Hom=4780;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1012-6C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453908;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1012C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453908;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000453908;SAVANT_GENE=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;SAVANT_INFO=+/15.0kb/16/2.5kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1012-6C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3D21+c.1012-6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36785270">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,25:55:99:620,0,866:127	1|0:36,40:76:99:1052,0,944:127	0|0:56,0:56:99:0,168,1907:127
1	36786421	.	T	G	28.8	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=82;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ExAC.Info.AC=3;ExAC.Info.AN=110350;ExAC.Info.AF=2.719e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2135+22T>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453908;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2136T>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453908;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2136T>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453908;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2136T>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453908;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000453908;SAVANT_GENE=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;SAVANT_INFO=+/15.0kb/16/2.5kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2135+22T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3D21+c.2135+22T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36786421">View</a>	GT:AD:DP:GQ:PL:TP	0|0:23,0:23:69:0,69,896:22	0|1:34,7:41:33:33,0,1162:22	0|0:17,1:18:23:0,23,624:22
1	36787888	.	G	A	818.04	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=37;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs58971913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58971913" target="_blank">rs58971913</a>;ExAC.Info.AC=30246;ExAC.Info.AN=114520;ExAC.Info.AF=0.264;ExAC.Info.AC_Het=6828;ExAC.Info.AC_Hom=2028;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.*8C>T;snpeff.Amino_Acid_length=165;snpeff.Gene_Name=EVA1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270824;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270824;SAVANT_GENE=FAM176B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM176B" target="_blank">FAM176B</a>;SAVANT_INFO=-/2.1kb/3/1.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*8C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM176B+c.*8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36787888">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:27:0,27,333:27	0|1:10,9:19:99:246,0,294:27	0|1:3,6:9:86:183,0,86:27
1	36788356	.	A	G	4683.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=46;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7536394;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7536394" target="_blank">rs7536394</a>;ExAC.Info.AC=48056;ExAC.Info.AN=48814;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=86;ExAC.Info.AC_Hom=6560;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SH3D21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.68-30T>C;snpeff.Amino_Acid_length=165;snpeff.Gene_Name=EVA1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3D21" target="_blank">SH3D21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270824;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270824;SAVANT_GENE=FAM176B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM176B" target="_blank">FAM176B</a>;SAVANT_INFO=-/2.1kb/3/1.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.68-30T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM176B+c.68-30T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36788356">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,10:10:30:338,30,0:47	1|1:0,16:16:48:640,48,0:47	1|1:0,20:20:60:725,60,0:47
1	36807481	.	C	T	2986.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795498" target="_blank">rs3795498</a>;cosmic68.Histology_subtype=plasma_cell_myeloma;ExAC.Info.AC=26849;ExAC.Info.AN=126694;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20668;ExAC.Info.AC_Hom=3043;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala400Thr/c.1198G>A;snpeff.Amino_Acid_length=440;snpeff.Gene_Name=STK40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK40" target="_blank">STK40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373130;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373129;SAVANT_GENE=STK40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK40" target="_blank">STK40</a>;SAVANT_INFO=-/46.3kb/12/3.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1183G>A_p.Ala395Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK40+c.1183G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36807481">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,14:36:99:335,0,604:127	1|0:37,27:64:99:621,0,1052:127	0|0:71,0:71:99:0,212,2372:127
1	36814473	.	C	T	1156.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs55703317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55703317" target="_blank">rs55703317</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.639-57G>A;snpeff.Amino_Acid_length=440;snpeff.Gene_Name=STK40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK40" target="_blank">STK40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373130;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373129;SAVANT_GENE=STK40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK40" target="_blank">STK40</a>;SAVANT_INFO=-/46.3kb/12/3.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.624-57G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK40+c.624-57G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36814473">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2092:127	0|0:62,0:62:99:0,186,2413:127	0|1:25,21:46:99:597,0,775:127
1	36820927	.	G	A	2208.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11263875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11263875" target="_blank">rs11263875</a>;ExAC.Info.AC=13166;ExAC.Info.AN=126704;ExAC.Info.AF=0.104;ExAC.Info.AC_Het=11528;ExAC.Info.AC_Hom=819;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser155Ser/c.465C>T;snpeff.Amino_Acid_length=440;snpeff.Gene_Name=STK40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK40" target="_blank">STK40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373130;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373129;SAVANT_GENE=STK40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK40" target="_blank">STK40</a>;SAVANT_INFO=-/46.3kb/12/3.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.450C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK40+c.450C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36820927">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2308:127	0|0:82,0:82:99:0,246,2739:127	0|1:49,37:86:99:1123,0,1371:127
1	36883946	.	T	C	4605.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs16822888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16822888" target="_blank">rs16822888</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1054-90A>G;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=OSCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSCP1" target="_blank">OSCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356637;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235532;SAVANT_GENE=OSCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSCP1" target="_blank">OSCP1</a>;SAVANT_INFO=-/32.5kb/10/1.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1024-90A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSCP1+c.1024-90A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36883946">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,33:66:99:822,0,1005:127	0/1:28,27:55:99:801,0,882:127	0/1:20,23:43:99:626,0,585:127
1	36886117	.	C	T	7724.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275477;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275477" target="_blank">rs2275477</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=27773;ExAC.Info.AN=126704;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=21329;ExAC.Info.AC_Hom=3217;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly317Arg/c.949G>A;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=OSCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSCP1" target="_blank">OSCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356637;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235532;SAVANT_GENE=OSCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSCP1" target="_blank">OSCP1</a>;SAVANT_INFO=-/32.5kb/10/1.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.919G>A_p.Gly307Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSCP1+c.919G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36886117">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,34:68:99:963,0,1020:127	0/1:42,44:86:99:1364,0,1289:127	0/1:36,27:63:99:792,0,1129:127
1	36887702	.	C	T	8263.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2236565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236565" target="_blank">rs2236565</a>;ExAC.Info.AC=82834;ExAC.Info.AN=126698;ExAC.Info.AF=0.654;ExAC.Info.AC_Het=27642;ExAC.Info.AC_Hom=27556;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.849+49G>A;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=OSCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSCP1" target="_blank">OSCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356637;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235532;SAVANT_GENE=OSCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSCP1" target="_blank">OSCP1</a>;SAVANT_INFO=-/32.5kb/10/1.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.819+49G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSCP1+c.819+49G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36887702">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,21:39:99:662,0,482:127	0|1:42,25:67:99:742,0,1330:127	1|1:0,63:63:99:2294,189,0:127
1	36898067	.	T	C	4857.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34409118;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34409118" target="_blank">rs34409118</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=25978;ExAC.Info.AN=126704;ExAC.Info.AF=0.205;ExAC.Info.AC_Het=20349;ExAC.Info.AC_Hom=2811;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr141Ala/c.421A>G;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=OSCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSCP1" target="_blank">OSCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356637;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235532;SAVANT_GENE=OSCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSCP1" target="_blank">OSCP1</a>;SAVANT_INFO=-/32.5kb/10/1.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.391A>G_p.Thr131Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSCP1+c.391A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36898067">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,20:35:99:655,0,444:127	0/1:24,22:46:99:734,0,686:127	0/1:18,21:39:99:771,0,525:127
1	36923494	.	G	C	2280.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12023818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12023818" target="_blank">rs12023818</a>;ExAC.Info.AC=37934;ExAC.Info.AN=126704;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=25337;ExAC.Info.AC_Hom=6294;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.444+30C>G;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=MRPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPS15" target="_blank">MRPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373116;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373116;SAVANT_GENE=MRPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPS15" target="_blank">MRPS15</a>;SAVANT_INFO=-/8.7kb/8/1.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.444+30C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPS15+c.444+30C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36923494">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,267,3096:127	0|0:102,0:102:99:0,307,3891:127	0|1:27,35:62:99:1159,0,875:127
1	36927733	.	G	A	2334.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7065;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7065" target="_blank">rs7065</a>;ExAC.Info.AC=120024;ExAC.Info.AN=126704;ExAC.Info.AF=0.947;ExAC.Info.AC_Het=6164;ExAC.Info.AC_Hom=56923;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro69Pro/c.207C>T;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=MRPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPS15" target="_blank">MRPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373116;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373116;SAVANT_GENE=MRPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPS15" target="_blank">MRPS15</a>;SAVANT_INFO=-/8.7kb/8/1.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.207C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPS15+c.207C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36927733">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,805:72	0|1:20,23:43:99:715,0,638:72	0|1:19,16:35:99:472,0,654:72
1	36929673	.	C	T	2672.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2275473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275473" target="_blank">rs2275473</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.130+74G>A;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=MRPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPS15" target="_blank">MRPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373116;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.131C>T;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=MRPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPS15" target="_blank">MRPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373116;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.131C>T;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=MRPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPS15" target="_blank">MRPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373116;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373116;SAVANT_GENE=MRPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPS15" target="_blank">MRPS15</a>;SAVANT_INFO=-/8.7kb/8/1.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.130+74G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPS15+c.130+74G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36929673">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,0:103:99:0,309,3522:127	0|1:50,45:95:99:1355,0,1605:127	0|0:86,0:86:99:0,258,2885:127
1	36937059	.	A	G	5680.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Neutrophilia|_hereditary|_162830_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3917981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3917981" target="_blank">rs3917981</a>;ExAC.Info.AC=71582;ExAC.Info.AN=126702;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=29648;ExAC.Info.AC_Hom=20933;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr420Thr/c.1260T>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373103;SAVANT_GENE=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;SAVANT_INFO=-/17.2kb/17/3.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1260T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSF3R+c.1260T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36937059">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2546:127	0|1:55,49:104:99:1456,0,1697:127	0|1:34,36:70:99:1404,0,1048:127
1	36937065	.	A	G	2300.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Neutrophilia|_hereditary|_162830_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3917980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3917980" target="_blank">rs3917980</a>;ExAC.Info.AC=39973;ExAC.Info.AN=126702;ExAC.Info.AF=0.315;ExAC.Info.AC_Het=26232;ExAC.Info.AC_Hom=6846;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254A>G;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg418Arg/c.1254T>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440588;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373103;SAVANT_GENE=CSF3R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF3R" target="_blank">CSF3R</a>;SAVANT_INFO=-/17.2kb/17/3.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1254T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSF3R+c.1254T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:36937065">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,229,3694:127	0|0:105,0:105:99:0,319,4478:127	0|1:36,37:73:99:1169,0,1655:127
1	37282884	.	C	T	2200.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3012032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3012032" target="_blank">rs3012032</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=18433;ExAC.Info.AN=126696;ExAC.Info.AF=0.145;ExAC.Info.AC_Het=15217;ExAC.Info.AC_Hom=1597;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1874-6G>A;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=GRIK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRIK3" target="_blank">GRIK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373091;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874C>T;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=GRIK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRIK3" target="_blank">GRIK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373091;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874C>T;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=GRIK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRIK3" target="_blank">GRIK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373091;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874C>T;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=GRIK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRIK3" target="_blank">GRIK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373091;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874G>A;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=GRIK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRIK3" target="_blank">GRIK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373091;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373091;SAVANT_GENE=GRIK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRIK3" target="_blank">GRIK3</a>;SAVANT_INFO=-/238.6kb/16/9.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1874-6G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRIK3+c.1874-6G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:37282884">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,204,2302:127	0|1:35,35:70:99:1119,0,1007:127	0|0:72,0:72:99:0,216,2463:127
1	37948212	.	C	G	14072.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs215205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=215205" target="_blank">rs215205</a>;ExAC.Info.AC=38798;ExAC.Info.AN=126670;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=24526;ExAC.Info.AC_Hom=7035;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.925+71C>G;snpeff.Amino_Acid_length=599;snpeff.Gene_Name=ZC3H12A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H12A" target="_blank">ZC3H12A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373087;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C3H1-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.926C>G;snpeff.Amino_Acid_length=599;snpeff.Gene_Name=ZC3H12A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H12A" target="_blank">ZC3H12A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373087;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C3H1-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.926C>G;snpeff.Amino_Acid_length=599;snpeff.Gene_Name=ZC3H12A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H12A" target="_blank">ZC3H12A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373087;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373087;SAVANT_GENE=ZC3H12A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H12A" target="_blank">ZC3H12A</a>;SAVANT_INFO=+/9.8kb/6/2.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.925+71C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZC3H12A+c.925+71C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:37948212">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,60:119:99:1741,0,1822:127	1|1:0,126:126:99:4591,379,0:127	0|0:107,0:107:99:0,322,4073:127
1	37959450	.	T	C	37642.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=476;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs215210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=215210" target="_blank">rs215210</a>;ExAC.Info.AC=80471;ExAC.Info.AN=104138;ExAC.Info.AF=0.773;ExAC.Info.AC_Het=4723;ExAC.Info.AC_Hom=9286;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=250;snpeff.Amino_Acid_Change=c.*250A>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=MEAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEAF6" target="_blank">MEAF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373075;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373075;SAVANT_GENE=MEAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEAF6" target="_blank">MEAF6</a>;SAVANT_INFO=-/22.2kb/8/2.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*250A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEAF6+c.*250A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:37959450">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,140:140:99:4566,420,0:127	1|1:0,188:188:99:6081,564,0:127	1|1:0,148:148:99:4976,444,0:127
1	37959470	.	C	G	34085.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs215211;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=215211" target="_blank">rs215211</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=230;snpeff.Amino_Acid_Change=c.*230G>C;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=MEAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEAF6" target="_blank">MEAF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373075;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373075;SAVANT_GENE=MEAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEAF6" target="_blank">MEAF6</a>;SAVANT_INFO=-/22.2kb/8/2.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*230G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEAF6+c.*230G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:37959470">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:4174,340,0:127	1|1:0,155:155:99:5589,465,0:127	1|1:0,121:121:99:4490,363,0:127
1	37959499	.	G	C	3626.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs215212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=215212" target="_blank">rs215212</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=201;snpeff.Amino_Acid_Change=c.*201C>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=MEAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEAF6" target="_blank">MEAF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373075;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373075;SAVANT_GENE=MEAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEAF6" target="_blank">MEAF6</a>;SAVANT_INFO=-/22.2kb/8/2.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*201C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEAF6+c.*201C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:37959499">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,226,2896:127	0|1:53,52:105:99:1832,0,1622:127	0|0:83,0:83:99:0,250,3281:127
1	37978999	.	A	C	2104.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72657778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72657778" target="_blank">rs72657778</a>;ExAC.Info.AC=6936;ExAC.Info.AN=126698;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=6358;ExAC.Info.AC_Hom=287;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.206+25T>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=MEAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEAF6" target="_blank">MEAF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373075;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:N6-acetyllysine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.207A>C;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=MEAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEAF6" target="_blank">MEAF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373075;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:N6-acetyllysine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.207A>C;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=MEAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEAF6" target="_blank">MEAF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373075;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373075;SAVANT_GENE=MEAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEAF6" target="_blank">MEAF6</a>;SAVANT_INFO=-/22.2kb/8/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.206+25T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEAF6+c.206+25T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:37978999">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2469:127	0|0:119,1:120:99:0,320,3961:127	0|1:17,35:52:99:1071,0,472:127
1	38006359	.	A	G	34964.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Psychomotor_retardation|_epilepsy|_and_craniofacial_dysmorphism|_614501_(3);dbSNP139.ID=rs2174769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2174769" target="_blank">rs2174769</a>;ExAC.Info.AC=102657;ExAC.Info.AN=126654;ExAC.Info.AF=0.811;ExAC.Info.AC_Het=16877;ExAC.Info.AC_Hom=42174;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.328-3T>C;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=SNIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNIP1" target="_blank">SNIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.328A>G;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=SNIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNIP1" target="_blank">SNIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.328A>G;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=SNIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNIP1" target="_blank">SNIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296215;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.328A>G;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=SNIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNIP1" target="_blank">SNIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296215;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.328T>C;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=SNIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNIP1" target="_blank">SNIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296215;SAVANT_GENE=SNIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNIP1" target="_blank">SNIP1</a>;SAVANT_INFO=-/17.8kb/4/2.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.328-3T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNIP1+c.328-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38006359">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:4720,394,0:127	1|1:0,171:171:99:6246,514,0:127	1|1:0,105:105:99:3883,315,0:127
1	38019747	.	C	T	6982.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=202;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Psychomotor_retardation|_epilepsy|_and_craniofacial_dysmorphism|_614501_(3);dbSNP139.ID=rs2273013;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273013" target="_blank">rs2273013</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=26784;ExAC.Info.AN=126398;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=19737;ExAC.Info.AC_Hom=3195;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val28Val/c.84G>A;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=SNIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNIP1" target="_blank">SNIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296215;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296215;SAVANT_GENE=SNIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNIP1" target="_blank">SNIP1</a>;SAVANT_INFO=-/17.8kb/4/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.84G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNIP1+c.84G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38019747">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,34:64:99:1142,0,991:127	1|0:42,45:87:99:1551,0,1431:127	0|0:51,0:51:99:0,154,2103:127
1	38023316	.	C	T	11011.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11749" target="_blank">rs11749</a>;ExAC.Info.AC=29908;ExAC.Info.AN=126702;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=22358;ExAC.Info.AC_Hom=3771;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gTa;snpeff.Amino_Acid_Change=p.Ala87Val/c.260C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=DNALI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNALI1" target="_blank">DNALI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296218;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296218;SAVANT_GENE=DNALI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNALI1" target="_blank">DNALI1</a>;SAVANT_INFO=+/9.9kb/6/2.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.260C>T_p.Ala87Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNALI1+c.260C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38023316">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,54:112:99:1369,0,1554:127	0/1:81,62:143:99:1598,0,2368:127	0/1:85,69:154:99:1757,0,2638:127
1	38025103	.	T	C	620.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41267309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41267309" target="_blank">rs41267309</a>;ExAC.Info.AC=6871;ExAC.Info.AN=126652;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=6185;ExAC.Info.AC_Hom=271;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.463+6T>C;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=DNALI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNALI1" target="_blank">DNALI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296218;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.464T>C;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=DNALI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNALI1" target="_blank">DNALI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296218;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296218;SAVANT_GENE=DNALI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNALI1" target="_blank">DNALI1</a>;SAVANT_INFO=+/9.9kb/6/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.463+6T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNALI1+c.463+6T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38025103">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,782:77	0|0:37,0:37:99:0,111,1311:77	0|1:10,10:20:99:329,0,283:77
1	38030609	.	C	T	2062.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41267315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41267315" target="_blank">rs41267315</a>;ExAC.Info.AC=6930;ExAC.Info.AN=126702;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=6357;ExAC.Info.AC_Hom=285;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.808-18C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=DNALI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNALI1" target="_blank">DNALI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296218;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296218;SAVANT_GENE=DNALI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNALI1" target="_blank">DNALI1</a>;SAVANT_INFO=+/9.9kb/6/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.808-18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNALI1+c.808-18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38030609">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,3099:127	0|0:136,0:136:99:0,409,4837:127	0|1:56,44:100:99:1050,0,1673:127
1	38033217	.	G	C	2848.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41307894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41307894" target="_blank">rs41307894</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2043+57C>G;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=GNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNL2" target="_blank">GNL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373062;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373062;SAVANT_GENE=GNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNL2" target="_blank">GNL2</a>;SAVANT_INFO=-/29.1kb/16/2.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2043+57C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNL2+c.2043+57C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38033217">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,325,4038:127	0|0:149,0:149:99:0,448,5581:127	0|1:66,47:113:99:1443,0,1934:127
1	38046920	.	G	T	32259.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2360010;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2360010" target="_blank">rs2360010</a>;ExAC.Info.AC=10057;ExAC.Info.AN=13962;ExAC.Info.AF=0.720;ExAC.Info.AC_Het=2121;ExAC.Info.AC_Hom=3236;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.909+904C>A;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=GNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNL2" target="_blank">GNL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373062;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373062;SAVANT_GENE=GNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNL2" target="_blank">GNL2</a>;SAVANT_INFO=-/29.1kb/16/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.909+904C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNL2+c.909+904C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38046920">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,134:134:99:4330,403,0:127	1|1:0,151:151:99:5210,454,0:127	1|1:0,136:136:99:4762,409,0:127
1	38047062	.	C	G	3506.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs112076625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112076625" target="_blank">rs112076625</a>;ExAC.Info.AC=520;ExAC.Info.AN=17620;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=421;ExAC.Info.AC_Hom=14;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.909+762G>C;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=GNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNL2" target="_blank">GNL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373062;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373062;SAVANT_GENE=GNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNL2" target="_blank">GNL2</a>;SAVANT_INFO=-/29.1kb/16/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.909+762G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNL2+c.909+762G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38047062">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,328,4163:127	0|0:157,2:159:99:0,429,5807:127	0|1:59,57:116:99:1772,0,1907:127
1	38049373	.	C	T	6677.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3753372;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753372" target="_blank">rs3753372</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.636+95G>A;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=GNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNL2" target="_blank">GNL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373062;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373062;SAVANT_GENE=GNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNL2" target="_blank">GNL2</a>;SAVANT_INFO=-/29.1kb/16/2.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.636+95G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNL2+c.636+95G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38049373">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,36:87:99:959,0,1551:127	1|0:67,67:134:99:1906,0,1876:127	0|0:107,0:107:99:0,321,3714:127
1	38049552	.	C	G	31870.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=401;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6426024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6426024" target="_blank">rs6426024</a>;ExAC.Info.AC=102957;ExAC.Info.AN=126698;ExAC.Info.AF=0.813;ExAC.Info.AC_Het=17349;ExAC.Info.AC_Hom=42772;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.570-18G>C;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=GNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNL2" target="_blank">GNL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373062;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373062;SAVANT_GENE=GNL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNL2" target="_blank">GNL2</a>;SAVANT_INFO=-/29.1kb/16/2.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.570-18G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNL2+c.570-18G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38049552">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:4153,352,0:127	1|1:0,141:141:99:5256,424,0:127	1|1:0,143:143:99:5035,430,0:127
1	38078300	.	A	G	22685.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1223;MQ=69.99;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_sex_reversal|_610644_(3)|_Palmoplantar_hyperkeratosis_and_true_hermaphroditism|_610644_(3);dbSNP139.ID=rs4652964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4652964" target="_blank">rs4652964</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=127;snpeff.Amino_Acid_Change=c.*127T>C;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356545;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356545;SAVANT_GENE=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;SAVANT_INFO=-/23.5kb/9/3.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*127T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RSPO1+c.*127T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38078300">View</a>	GT:AD:DP:GQ:PL:TP	0|1:177,168:345:99:4419,0,4643:127	1|0:214,219:433:99:6007,0,5419:127	0|0:445,0:445:99:0,1339,14214:127
1	38078630	.	A	T	7307.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_sex_reversal|_610644_(3)|_Palmoplantar_hyperkeratosis_and_true_hermaphroditism|_610644_(3);dbSNP139.ID=rs55852308;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55852308" target="_blank">rs55852308</a>;ExAC.Info.AC=30243;ExAC.Info.AN=125518;ExAC.Info.AF=0.241;ExAC.Info.AC_Het=22416;ExAC.Info.AC_Hom=3833;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.626-37T>A;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356545;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356545;SAVANT_GENE=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;SAVANT_INFO=-/23.5kb/9/3.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.626-37T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RSPO1+c.626-37T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38078630">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,33:82:99:876,0,1249:127	0/1:27,40:67:99:1184,0,708:127	0/1:50,36:86:99:918,0,1382:127
1	38080065	.	C	A	1316.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_sex_reversal|_610644_(3)|_Palmoplantar_hyperkeratosis_and_true_hermaphroditism|_610644_(3);dbSNP139.ID=rs11588571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11588571" target="_blank">rs11588571</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.287-60G>T;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356545;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356545;SAVANT_GENE=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;SAVANT_INFO=-/23.5kb/9/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.287-60G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RSPO1+c.287-60G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38080065">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2069:127	0|0:50,0:50:99:0,150,1917:127	0|1:24,24:48:99:677,0,755:127
1	38082122	.	G	A	8506.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_sex_reversal|_610644_(3)|_Palmoplantar_hyperkeratosis_and_true_hermaphroditism|_610644_(3);dbSNP139.ID=rs12039431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12039431" target="_blank">rs12039431</a>;ExAC.Info.AC=29851;ExAC.Info.AN=125228;ExAC.Info.AF=0.238;ExAC.Info.AC_Het=22347;ExAC.Info.AC_Hom=3472;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.286+34C>T;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356545;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356545;SAVANT_GENE=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;SAVANT_INFO=-/23.5kb/9/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.286+34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RSPO1+c.286+34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38082122">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,51:83:99:1307,0,1956:127	0/1:40,47:87:99:1387,0,2674:127	0/1:41,38:79:99:1143,0,2614:127
1	38082123	.	C	T	12236.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_sex_reversal|_610644_(3)|_Palmoplantar_hyperkeratosis_and_true_hermaphroditism|_610644_(3);dbSNP139.ID=rs12046650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12046650" target="_blank">rs12046650</a>;ExAC.Info.AC=29849;ExAC.Info.AN=125228;ExAC.Info.AF=0.238;ExAC.Info.AC_Het=22350;ExAC.Info.AC_Hom=3470;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.286+33G>A;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356545;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356545;SAVANT_GENE=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;SAVANT_INFO=-/23.5kb/9/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.286+33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RSPO1+c.286+33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38082123">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,49:82:99:1991,0,909:127	0/1:40,47:87:99:1853,0,1253:127	0/1:40,38:78:99:1475,0,1163:127
1	38082381	.	G	C	1458.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_sex_reversal|_610644_(3)|_Palmoplantar_hyperkeratosis_and_true_hermaphroditism|_610644_(3);dbSNP139.ID=rs45577433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45577433" target="_blank">rs45577433</a>;ExAC.Info.AC=5704;ExAC.Info.AN=125274;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=5164;ExAC.Info.AC_Hom=188;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.95-34C>G;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356545;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356545;SAVANT_GENE=RSPO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSPO1" target="_blank">RSPO1</a>;SAVANT_INFO=-/23.5kb/9/3.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.95-34C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RSPO1+c.95-34C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38082381">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2077:127	0|0:77,0:77:99:0,232,2937:127	0|1:32,25:57:99:748,0,1087:127
1	38148765	.	A	G	15868.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs684260;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=684260" target="_blank">rs684260</a>;ExAC.Info.AC=99408;ExAC.Info.AN=126702;ExAC.Info.AF=0.785;ExAC.Info.AC_Het=20906;ExAC.Info.AC_Hom=39205;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf109;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf109" target="_blank">C1orf109</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358011;SAVANT_GENE=C1orf109;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf109" target="_blank">C1orf109</a>;SAVANT_INFO=-/9.0kb/5/2.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*30T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf109+c.*30T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38148765">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2292,195,0:127	1|1:0,68:68:99:2502,204,0:127	1|1:0,54:54:99:2070,162,0:127
1	38149076	.	G	A	3758.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34250208;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34250208" target="_blank">rs34250208</a>;ExAC.Info.AC=12922;ExAC.Info.AN=126700;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=11248;ExAC.Info.AC_Hom=832;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile163Ile/c.489C>T;snpeff.Amino_Acid_length=203;snpeff.Gene_Name=C1orf109;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf109" target="_blank">C1orf109</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000464085;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358011;SAVANT_GENE=C1orf109;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf109" target="_blank">C1orf109</a>;SAVANT_INFO=-/9.0kb/5/2.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.489C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf109+c.489C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38149076">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,294,3458:127	0|0:139,0:139:99:0,418,4756:127	0|1:56,69:125:99:1898,0,1757:127
1	38155265	.	G	C	6082.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs586252;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=586252" target="_blank">rs586252</a>;ExAC.Info.AC=29615;ExAC.Info.AN=126616;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=21094;ExAC.Info.AC_Hom=3977;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.275+13C>G;snpeff.Amino_Acid_length=203;snpeff.Gene_Name=C1orf109;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf109" target="_blank">C1orf109</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000464085;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358011;SAVANT_GENE=C1orf109;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf109" target="_blank">C1orf109</a>;SAVANT_INFO=-/9.0kb/5/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.275+13C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf109+c.275+13C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38155265">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,26:51:99:743,0,796:127	0/1:20,36:56:99:1067,0,579:127	0/1:31,26:57:99:740,0,955:127
1	38161694	.	A	G	23806.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs615530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=615530" target="_blank">rs615530</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.264+72A>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=CDCA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCA8" target="_blank">CDCA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373055;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373055;SAVANT_GENE=CDCA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCA8" target="_blank">CDCA8</a>;SAVANT_INFO=+/17.3kb/10/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.264+72A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDCA8+c.264+72A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38161694">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2860,234,0:127	1|1:0,107:107:99:3871,322,0:127	1|1:0,107:107:99:3933,322,0:127
1	38166022	.	T	C	14518.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs513826;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=513826" target="_blank">rs513826</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.338-86T>C;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=CDCA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCA8" target="_blank">CDCA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373055;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373055;SAVANT_GENE=CDCA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCA8" target="_blank">CDCA8</a>;SAVANT_INFO=+/17.3kb/10/2.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.338-86T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDCA8+c.338-86T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38166022">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2270,204,0:127	1|1:0,63:63:99:2330,189,0:127	1|1:0,48:48:99:1731,144,0:127
1	38167361	.	A	AC	2953.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs67680207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67680207" target="_blank">rs67680207</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.424-64_424-63insC;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=CDCA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCA8" target="_blank">CDCA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373055;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373055;SAVANT_GENE=CDCA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCA8" target="_blank">CDCA8</a>;SAVANT_INFO=+/17.3kb/10/2.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.424-62dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDCA8+c.424-62dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38167361">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,28:56:99:490,0,676:127	0/1:30,26:56:99:641,0,749:127	0/1:22,17:39:99:287,0,622:127
1	38173983	.	TTTC	T	21151.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=492;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs145033890;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145033890" target="_blank">rs145033890</a>;ExAC.Info.AC=35204;ExAC.Info.AN=126694;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=22429;ExAC.Info.AC_Hom=6283;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.799-10_799-8delTTC;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=CDCA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCA8" target="_blank">CDCA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373055;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373055;SAVANT_GENE=CDCA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCA8" target="_blank">CDCA8</a>;SAVANT_INFO=+/17.3kb/10/2.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.799-8_799-6delCTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDCA8+c.799-8_799-6delCTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38173983">View</a>	GT:AD:DP:GQ:PL:TP	0/1:75,66:141:99:2498,0,2938:127	0/1:98,85:183:99:3226,0,3782:127	0/1:101,67:168:99:2468,0,4034:127
1	38184316	.	T	C	3990.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs609437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=609437" target="_blank">rs609437</a>;ExAC.Info.AC=26843;ExAC.Info.AN=124838;ExAC.Info.AF=0.215;ExAC.Info.AC_Het=19780;ExAC.Info.AC_Hom=3223;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2912+17A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2912+17A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.2912+17A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38184316">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,19:38:99:622,0,568:127	0/1:29,22:51:99:595,0,871:127	0/1:24,17:41:99:514,0,794:127
1	38184470	.	C	G	782.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs610213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=610213" target="_blank">rs610213</a>;ExAC.Info.AC=18111;ExAC.Info.AN=125036;ExAC.Info.AF=0.145;ExAC.Info.AC_Het=14536;ExAC.Info.AC_Hom=1450;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcC;snpeff.Amino_Acid_Change=p.Ala925Ala/c.2775G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2775G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.2775G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38184470">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,940:56	0|0:19,0:19:57:0,57,610:56	0|1:9,14:23:99:410,0,214:56
1	38185647	.	G	A	5922.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2170809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2170809" target="_blank">rs2170809</a>;ExAC.Info.AC=8755;ExAC.Info.AN=126690;ExAC.Info.AF=0.069;ExAC.Info.AC_Het=7987;ExAC.Info.AC_Hom=367;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe832Phe/c.2496C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2496C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.2496C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38185647">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,37:75:99:1028,0,931:127	1|0:48,48:96:99:1299,0,1233:127	0|0:85,0:85:99:0,255,2884:127
1	38186189	.	C	T	2230.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6671088;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6671088" target="_blank">rs6671088</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=18044;ExAC.Info.AN=125236;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=14395;ExAC.Info.AC_Hom=1393;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gAg;snpeff.Amino_Acid_Change=p.Gly749Glu/c.2246G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2246G>A_p.Gly749Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.2246G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38186189">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2519:127	0|0:85,0:85:99:0,255,2926:127	0|1:28,38:66:99:1134,0,792:127
1	38186206	.	C	G	4361.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12726343;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12726343" target="_blank">rs12726343</a>;ExAC.Info.AC=7975;ExAC.Info.AN=125272;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=6989;ExAC.Info.AC_Hom=292;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtC;snpeff.Amino_Acid_Change=p.Val743Val/c.2229G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2229G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.2229G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38186206">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,30:64:99:922,0,1049:127	1|0:40,33:73:99:917,0,1140:127	0|0:54,0:54:99:0,162,2082:127
1	38187447	.	A	G	4803.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=149;MQ=69.99;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs579908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=579908" target="_blank">rs579908</a>;ExAC.Info.AC=27190;ExAC.Info.AN=124732;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=19566;ExAC.Info.AC_Hom=3102;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His677His/c.2031T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2031T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.2031T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38187447">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,16:43:99:591,0,731:127	0/1:39,21:60:99:745,0,937:127	0/1:30,16:46:99:365,0,943:127
1	38187453	.	G	A	3198.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=155;MQ=69.99;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs33970734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33970734" target="_blank">rs33970734</a>;ExAC.Info.AC=8025;ExAC.Info.AN=124846;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=7088;ExAC.Info.AC_Hom=266;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala675Ala/c.2025C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2025C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.2025C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38187453">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,17:44:99:543,0,1435:127	1|0:40,22:62:99:650,0,1985:127	0|0:49,0:49:99:0,147,2342:127
1	38187802	.	CA	C	5495.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs372211780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=372211780" target="_blank">rs372211780</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1961-286delT;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1961-286delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1961-286delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38187802">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,44:83:99:993,0,865:120	1|0:36,52:88:99:1196,0,754:120	0|0:73,4:77:99:0,120,1969:120
1	38187879	.	C	T	10338.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=443;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17511136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17511136" target="_blank">rs17511136</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1961-362G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1961-362G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1961-362G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38187879">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,56:120:99:1454,0,1728:127	1|0:87,89:176:99:2374,0,2488:127	0|0:146,1:147:99:0,404,4682:127
1	38187989	.	T	C	6047.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12123842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12123842" target="_blank">rs12123842</a>;ExAC.Info.AC=1420;ExAC.Info.AN=14150;ExAC.Info.AF=0.100;ExAC.Info.AC_Het=28;ExAC.Info.AC_Hom=4;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1961-472A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1961-472A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1961-472A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38187989">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,30:48:99:923,0,502:127	0/1:45,31:76:99:973,0,1331:127	0/1:42,19:61:99:615,0,1264:127
1	38188574	.	G	A	7416.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72659469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72659469" target="_blank">rs72659469</a>;ExAC.Info.AC=2176;ExAC.Info.AN=124384;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=1566;ExAC.Info.AC_Hom=25;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1960+139C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1960+139C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1960+139C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38188574">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,49:92:99:1288,0,1257:127	0|0:100,0:100:99:0,300,3598:127	1|0:42,47:89:99:1292,0,1244:127
1	38188604	.	C	T	7206.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7517651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7517651" target="_blank">rs7517651</a>;ExAC.Info.AC=7688;ExAC.Info.AN=125426;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=6427;ExAC.Info.AC_Hom=225;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1960+109G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1960+109G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1960+109G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38188604">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,38:89:99:1012,0,1479:127	1|0:43,62:105:99:1712,0,1321:127	0|0:99,0:99:99:0,297,3472:127
1	38188697	.	T	C	5156.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs16824420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16824420" target="_blank">rs16824420</a>;ExAC.Info.AC=8711;ExAC.Info.AN=125724;ExAC.Info.AF=0.069;ExAC.Info.AC_Het=7945;ExAC.Info.AC_Hom=369;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1960+16A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1960+16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1960+16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38188697">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,37:69:99:1071,0,924:127	1|0:35,35:70:99:1019,0,1139:127	0|0:74,1:75:99:0,214,2637:127
1	38188740	.	C	T	7206.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12405650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12405650" target="_blank">rs12405650</a>;ExAC.Info.AC=8349;ExAC.Info.AN=125706;ExAC.Info.AF=0.066;ExAC.Info.AC_Het=7633;ExAC.Info.AC_Hom=351;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val645Ile/c.1933G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1933G>A_p.Val645Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1933G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38188740">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,43:81:99:1285,0,1159:127	1|0:45,48:93:99:1511,0,1381:127	0|0:86,0:86:99:0,259,3091:127
1	38188768	.	C	T	12733.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17464871;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17464871" target="_blank">rs17464871</a>;ExAC.Info.AC=8256;ExAC.Info.AN=125716;ExAC.Info.AF=0.066;ExAC.Info.AC_Het=7559;ExAC.Info.AC_Hom=338;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu635Leu/c.1905G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1905G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1905G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38188768">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,60:108:99:2186,0,1836:127	1|0:55,64:119:99:2615,0,2110:127	0|0:110,0:110:99:0,337,4864:127
1	38188787	.	A	G	14282.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17511304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17511304" target="_blank">rs17511304</a>;ExAC.Info.AC=8261;ExAC.Info.AN=125698;ExAC.Info.AF=0.066;ExAC.Info.AC_Het=7566;ExAC.Info.AC_Hom=337;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu629Pro/c.1886T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1886T>C_p.Leu629Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1886T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38188787">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,60:118:99:2189,0,2098:127	1|0:64,79:143:99:2915,0,2305:127	0|0:117,0:117:99:0,358,5065:127
1	38188841	.	G	A	3278.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=451;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12121777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12121777" target="_blank">rs12121777</a>;ExAC.Info.AC=22211;ExAC.Info.AN=125526;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=17528;ExAC.Info.AC_Hom=2295;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1835-3C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1835C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1835-3C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1835-3C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38188841">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,427,4869:127	0|0:172,0:172:99:0,517,6217:127	0|1:75,62:137:99:1658,0,2295:127
1	38188880	.	C	T	10136.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=392;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11582856;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11582856" target="_blank">rs11582856</a>;ExAC.Info.AC=8172;ExAC.Info.AN=125632;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=7402;ExAC.Info.AC_Hom=320;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1835-42G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1835-42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1835-42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38188880">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,66:115:99:1980,0,1393:127	1|0:85,61:146:99:1697,0,2654:127	0|0:131,0:131:99:0,394,4524:127
1	38188934	.	T	C	7921.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11577529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11577529" target="_blank">rs11577529</a>;ExAC.Info.AC=8220;ExAC.Info.AN=125478;ExAC.Info.AF=0.066;ExAC.Info.AC_Het=7449;ExAC.Info.AC_Hom=334;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1834+49A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1834+49A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.1834+49A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38188934">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,55:89:99:1461,0,994:127	1|0:66,51:117:99:1272,0,2014:127	0|0:97,0:97:99:0,290,3375:127
1	38220109	.	G	T	3710.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11584465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11584465" target="_blank">rs11584465</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.851-67C>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.851-67C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.851-67C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38220109">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,19:30:99:546,0,321:127	0/1:19,22:41:99:579,0,492:127	0/1:16,14:30:99:400,0,467:127
1	38227086	.	A	T	5102.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4653328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4653328" target="_blank">rs4653328</a>;ExAC.Info.AC=37589;ExAC.Info.AN=124904;ExAC.Info.AF=0.301;ExAC.Info.AC_Het=25571;ExAC.Info.AC_Hom=5920;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Atc;snpeff.Amino_Acid_Change=p.Phe281Ile/c.841T>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427468;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373048;SAVANT_GENE=EPHA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHA10" target="_blank">EPHA10</a>;SAVANT_INFO=-/49.1kb/17/5.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.841T>A_p.Phe281Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHA10+c.841T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38227086">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,29:55:99:877,0,617:127	0/1:43,26:69:99:693,0,1210:127	0/1:38,14:52:99:330,0,1074:127
1	38272660	.	G	A	1982.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2291297;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291297" target="_blank">rs2291297</a>;ExAC.Info.AC=33292;ExAC.Info.AN=126704;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=23667;ExAC.Info.AC_Hom=4784;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf122;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf122" target="_blank">C1orf122</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.505-12C>T;snpeff.Amino_Acid_length=279;snpeff.Gene_Name=YRDC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf122" target="_blank">C1orf122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373044;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YrdC-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505G>A;snpeff.Amino_Acid_length=279;snpeff.Gene_Name=YRDC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf122" target="_blank">C1orf122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373044;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YrdC-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505G>A;snpeff.Amino_Acid_length=279;snpeff.Gene_Name=YRDC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf122" target="_blank">C1orf122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373044;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YrdC-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505G>A;snpeff.Amino_Acid_length=279;snpeff.Gene_Name=YRDC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf122" target="_blank">C1orf122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373044;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YrdC-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505G>A;snpeff.Amino_Acid_length=279;snpeff.Gene_Name=YRDC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf122" target="_blank">C1orf122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373044;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YrdC-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505G>A;snpeff.Amino_Acid_length=279;snpeff.Gene_Name=YRDC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf122" target="_blank">C1orf122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373044;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373044;SAVANT_GENE=YRDC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YRDC" target="_blank">YRDC</a>;SAVANT_INFO=-/5.2kb/5/1.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.505-12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YRDC+c.505-12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38272660">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,321,3732:127	0|0:135,0:135:99:0,406,4731:127	0|1:57,38:95:99:1010,0,1726:127
1	38289383	.	T	C	5848.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=685;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12751325;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12751325" target="_blank">rs12751325</a>;ExAC.Info.AC=33610;ExAC.Info.AN=126704;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=23910;ExAC.Info.AC_Hom=4757;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr390Thr/c.1170A>G;snpeff.Amino_Acid_length=753;snpeff.Gene_Name=MTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF1" target="_blank">MTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373036;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170A>G;snpeff.Amino_Acid_length=753;snpeff.Gene_Name=MTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF1" target="_blank">MTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373036;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373036;SAVANT_GENE=MTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF1" target="_blank">MTF1</a>;SAVANT_INFO=-/45.4kb/11/3.4kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1170A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTF1+c.1170A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38289383">View</a>	GT:AD:DP:GQ:PL:TP	0|0:204,0:204:99:0,612,6634:127	0|0:261,0:261:99:0,783,9012:127	0|1:111,109:220:99:2943,0,3192:127
1	38292296	.	CT	C	286.0	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.15-35delA;snpeff.Amino_Acid_length=14;snpeff.Gene_Name=AL929472.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL9294721" target="_blank">AL9294721</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448796;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1069-2813delA;snpeff.Amino_Acid_length=753;snpeff.Gene_Name=MTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL9294721" target="_blank">AL9294721</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373036;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000448796:ENST00000373036;SAVANT_GENE=AL929472.1:MTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL9294721:MTF1" target="_blank">AL9294721:MTF1</a>;SAVANT_INFO=-/1.7kb/2/0.0kb:-/45.4kb/11/3.4kb;SAVANT_LOC=In1/2:In7/8;SAVANT_HGVS=c.15-35delA:c.1069-2813delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL9294721:MTF1+c.15-35delA:c.1069-2813delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38292296">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,9:38:99:125,0,627:36	1|0:37,6:43:29:29,0,832:36	0|0:22,2:24:37:0,37,576:36
1	38293939	.	A	G	650.46	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1068+3978T>C;snpeff.Amino_Acid_length=753;snpeff.Gene_Name=MTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF1" target="_blank">MTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373036;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373036;SAVANT_GENE=MTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF1" target="_blank">MTF1</a>;SAVANT_INFO=-/45.4kb/11/3.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1068+3978T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTF1+c.1068+3978T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38293939">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,17:61:99:114,0,1151:99	0/1:33,14:47:99:100,0,738:99	0/1:50,20:70:99:180,0,1210:99
1	38327935	.	CAG	C	26968.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=577;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs140670679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140670679" target="_blank">rs140670679</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=50;snpeff.Amino_Acid_Change=c.*50_*51delCT;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373024;SAVANT_GENE=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;SAVANT_INFO=-/85.0kb/24/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*50_*51delCT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5B+c.*50_*51delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38327935">View</a>	GT:AD:DP:GQ:PL:TP	0|1:80,86:166:99:3341,0,3092:127	1|1:0,208:208:99:9214,626,0:127	0|0:203,0:203:99:0,611,9086:127
1	38327982	.	G	T	27182.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=583;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3843" target="_blank">rs3843</a>;ExAC.Info.AC=80313;ExAC.Info.AN=125180;ExAC.Info.AF=0.642;ExAC.Info.AC_Het=27089;ExAC.Info.AC_Hom=26573;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=5;snpeff.Amino_Acid_Change=c.*5C>A;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373024;SAVANT_GENE=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;SAVANT_INFO=-/85.0kb/24/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*5C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5B+c.*5C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38327982">View</a>	GT:AD:DP:GQ:PL:TP	0|1:69,80:149:99:2197,0,2240:127	1|1:0,214:214:99:7490,643,0:127	0|1:113,107:220:99:2908,0,3494:127
1	38334317	.	T	A	5542.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2306425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306425" target="_blank">rs2306425</a>;ExAC.Info.AC=32354;ExAC.Info.AN=125346;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=23462;ExAC.Info.AC_Hom=3992;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2428-31A>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373024;SAVANT_GENE=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;SAVANT_INFO=-/85.0kb/24/3.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2188-31A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5B+c.2188-31A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38334317">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,17:32:99:669,0,884:116	1|1:0,41:41:99:1841,123,0:116	0|0:39,0:39:99:0,117,2754:116
1	38334318	.	C	A	5542.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs56217551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56217551" target="_blank">rs56217551</a>;ExAC.Info.AC=32353;ExAC.Info.AN=125344;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=23413;ExAC.Info.AC_Hom=3985;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2428-32G>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373024;SAVANT_GENE=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;SAVANT_INFO=-/85.0kb/24/3.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2188-32G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5B+c.2188-32G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38334318">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,17:31:99:669,0,884:116	1|1:0,40:40:99:1841,123,0:116	0|0:38,0:38:99:0,117,2754:116
1	38338795	.	A	G	30556.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=690;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11488569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11488569" target="_blank">rs11488569</a>;ExAC.Info.AC=80320;ExAC.Info.AN=125168;ExAC.Info.AF=0.642;ExAC.Info.AC_Het=27088;ExAC.Info.AC_Hom=26607;snpeff.Effect=sequence_feature[region_of_interest:ASH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2234A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:ASH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2234A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:ASH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2234A>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met745Thr/c.2234T>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373024;SAVANT_GENE=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;SAVANT_INFO=-/85.0kb/24/3.1kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.1994T>C_p.Met665Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5B+c.1994T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38338795">View</a>	GT:AD:DP:GQ:PL:TP	0|1:115,98:213:99:2740,0,2975:127	1|1:0,262:262:99:8746,787,0:127	0|1:112,103:215:99:2855,0,2935:127
1	38345896	.	A	C	13395.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2306427;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306427" target="_blank">rs2306427</a>;ExAC.Info.AC=80130;ExAC.Info.AN=125046;ExAC.Info.AF=0.641;ExAC.Info.AC_Het=26841;ExAC.Info.AC_Hom=26292;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1672-30T>G;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5-phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5-phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5-phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5-phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5-phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5-phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5-phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5-phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5-phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>C;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373024;SAVANT_GENE=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;SAVANT_INFO=-/85.0kb/24/3.1kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1432-30T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5B+c.1432-30T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38345896">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,32:82:99:990,0,1417:127	1|1:3,93:96:99:3574,201,0:127	0|1:58,51:109:99:1488,0,1631:127
1	38356899	.	C	CA	1449.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=80;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs68031410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=68031410" target="_blank">rs68031410</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.869+131_869+130insT;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373024;SAVANT_GENE=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;SAVANT_INFO=-/85.0kb/24/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.629+130dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5B+c.629+130dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38356899">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,8:24:99:109,0,278:75	0/1:8,28:36:76:522,0,76:75	0/1:13,7:20:85:85,0,201:75
1	38397341	.	G	A	8947.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34655914;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34655914" target="_blank">rs34655914</a>;ExAC.Info.AC=27129;ExAC.Info.AN=71450;ExAC.Info.AF=0.380;ExAC.Info.AC_Het=3566;ExAC.Info.AC_Hom=2039;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.772+4C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.773C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373024;SAVANT_GENE=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;SAVANT_INFO=-/85.0kb/24/3.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.532+244C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5B+c.532+244C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38397341">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,26:55:99:749,0,904:127	1|1:1,64:65:99:2294,161,0:127	0|1:30,25:55:99:721,0,866:127
1	38397369	.	C	T	9883.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D|D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35267671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35267671" target="_blank">rs35267671</a>;ExAC.Info.AC=42676;ExAC.Info.AN=101518;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=6559;ExAC.Info.AC_Hom=3911;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly250Ser/c.748G>A;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373024;SAVANT_GENE=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;SAVANT_INFO=-/85.0kb/24/3.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.532+216G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5B+c.532+216G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38397369">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,30:64:99:888,0,1139:127	1|1:0,72:72:99:2683,216,0:127	0|1:38,22:60:99:677,0,1131:127
1	38411350	.	C	T	8598.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11485595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11485595" target="_blank">rs11485595</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.152+78G>A;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373024;SAVANT_GENE=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;SAVANT_INFO=-/85.0kb/24/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.152+78G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5B+c.152+78G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38411350">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,33:59:99:883,0,813:127	1|1:0,84:84:99:2835,252,0:127	0|0:74,0:74:99:0,222,2710:127
1	38411445	.	G	A	13371.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs871524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=871524" target="_blank">rs871524</a>;ExAC.Info.AC=35869;ExAC.Info.AN=125506;ExAC.Info.AF=0.286;ExAC.Info.AC_Het=24360;ExAC.Info.AC_Hom=5694;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>A;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>A;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>A;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>A;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>A;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His45His/c.135C>T;snpeff.Amino_Acid_length=993;snpeff.Gene_Name=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373024;SAVANT_GENE=INPP5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5B" target="_blank">INPP5B</a>;SAVANT_INFO=-/85.0kb/24/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.135C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5B+c.135C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38411445">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,30:56:99:911,0,721:127	1|1:0,115:115:99:4276,346,0:127	0|0:75,0:75:99:0,225,2864:127
1	38425724	.	T	C	7547.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs17531342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17531342" target="_blank">rs17531342</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1428+68A>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373019;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373019;SAVANT_GENE=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;SAVANT_INFO=-/33.9kb/17/3.7kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1428+68A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SF3A3+c.1428+68A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38425724">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1044,90,0:71	1|1:0,39:39:99:1357,117,0:71	1|1:0,24:24:72:924,72,0:71
1	38425895	.	T	C	13427.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28675056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28675056" target="_blank">rs28675056</a>;ExAC.Info.AC=112746;ExAC.Info.AN=126698;ExAC.Info.AF=0.890;ExAC.Info.AC_Het=11697;ExAC.Info.AC_Hom=49807;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1373-48A>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373019;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373019;SAVANT_GENE=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;SAVANT_INFO=-/33.9kb/17/3.7kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1373-48A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SF3A3+c.1373-48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38425895">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1640,152,0:127	1|1:0,68:68:99:2077,202,0:127	1|1:0,56:56:99:1871,168,0:127
1	38442547	.	G	A	35566.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10890216;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10890216" target="_blank">rs10890216</a>;ExAC.Info.AC=112709;ExAC.Info.AN=126694;ExAC.Info.AF=0.890;ExAC.Info.AC_Het=11896;ExAC.Info.AC_Hom=50375;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1005+9C>T;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373019;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373019;SAVANT_GENE=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;SAVANT_INFO=-/33.9kb/17/3.7kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1005+9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SF3A3+c.1005+9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38442547">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:4326,408,0:127	1|1:0,174:174:99:6060,523,0:127	1|1:0,139:139:99:4643,418,0:127
1	38444749	.	T	C	4147.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7555461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7555461" target="_blank">rs7555461</a>;ExAC.Info.AC=58192;ExAC.Info.AN=126664;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=30390;ExAC.Info.AC_Hom=13775;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.760-22A>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373019;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373019;SAVANT_GENE=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;SAVANT_INFO=-/33.9kb/17/3.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.760-22A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SF3A3+c.760-22A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38444749">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,12:32:99:381,0,602:110	0|0:43,0:43:99:0,129,1379:110	1|1:0,37:37:99:1376,111,0:110
1	38450367	.	A	G	38776.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=487;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6680796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6680796" target="_blank">rs6680796</a>;ExAC.Info.AC=112901;ExAC.Info.AN=126702;ExAC.Info.AF=0.891;ExAC.Info.AC_Het=11755;ExAC.Info.AC_Hom=50555;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.376+12T>C;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373019;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373019;SAVANT_GENE=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;SAVANT_INFO=-/33.9kb/17/3.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.376+12T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SF3A3+c.376+12T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38450367">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,160:160:99:5156,480,0:127	1|1:0,188:188:99:6193,567,0:127	1|1:0,139:139:99:4680,418,0:127
1	38453576	.	A	C	8608.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs10890285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10890285" target="_blank">rs10890285</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.145-68T>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373019;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373019;SAVANT_GENE=SF3A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3A3" target="_blank">SF3A3</a>;SAVANT_INFO=-/33.9kb/17/3.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.145-68T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SF3A3+c.145-68T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38453576">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,44:97:99:1252,0,1548:127	0|0:121,2:123:99:0,320,4157:127	1|1:0,66:66:99:2214,198,0:127
1	38462898	.	T	A	20413.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4274021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4274021" target="_blank">rs4274021</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=179;snpeff.Amino_Acid_Change=c.*179A>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373016;SAVANT_GENE=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;SAVANT_INFO=-/8.7kb/6/1.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*179A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHL3+c.*179A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38462898">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:2204,150,0:127	1|1:0,81:81:99:3649,247,0:127	1|1:0,45:45:99:1998,135,0:127
1	38462905	.	C	G	20922.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12724533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12724533" target="_blank">rs12724533</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=172;snpeff.Amino_Acid_Change=c.*172G>C;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373016;SAVANT_GENE=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;SAVANT_INFO=-/8.7kb/6/1.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*172G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHL3+c.*172G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38462905">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:2262,156,0:127	1|1:0,83:83:99:3719,253,0:127	1|1:0,46:46:99:2036,138,0:127
1	38463504	.	C	T	14295.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=402;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7366048;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7366048" target="_blank">rs7366048</a>;ExAC.Info.AC=60049;ExAC.Info.AN=126698;ExAC.Info.AF=0.474;ExAC.Info.AC_Het=30274;ExAC.Info.AC_Hom=14871;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro180Pro/c.540G>A;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373016;SAVANT_GENE=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;SAVANT_INFO=-/8.7kb/6/1.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.540G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHL3+c.540G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38463504">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,55:106:99:1525,0,1425:127	0|0:165,0:165:99:0,495,5666:127	1|1:0,131:131:99:4374,394,0:127
1	38464639	.	C	G	45997.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=554;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4570384;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4570384" target="_blank">rs4570384</a>;ExAC.Info.AC=126623;ExAC.Info.AN=126690;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=67;ExAC.Info.AC_Hom=63162;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.331+7G>C;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332C>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332C>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332C>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332C>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332G>C;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373016;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373016;SAVANT_GENE=FHL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FHL3" target="_blank">FHL3</a>;SAVANT_INFO=-/8.7kb/6/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.331+7G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FHL3+c.331+7G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:38464639">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,178:178:99:6176,534,0:127	1|1:0,208:208:99:7301,625,0:127	1|1:0,168:168:99:6160,505,0:127
1	39176229	.	G	A	7934.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=483;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56330436;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56330436" target="_blank">rs56330436</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1627G>A;snpeff.Gene_Name=RP11-334L9.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-334L91" target="_blank">RP11-334L91</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442006;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-334L91" target="_blank">RP11-334L91</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-334L91+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39176229">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,71:144:99:1712,0,2149:127	0|0:187,0:187:99:0,562,6474:127	1|0:85,67:152:99:1616,0,2619:127
1	39305403	.	C	T	7518.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17499125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17499125" target="_blank">rs17499125</a>;ExAC.Info.AC=21734;ExAC.Info.AN=126696;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=17323;ExAC.Info.AC_Hom=2153;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1049-27G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=RRAGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAGC" target="_blank">RRAGC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373001;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373001;SAVANT_GENE=RRAGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAGC" target="_blank">RRAGC</a>;SAVANT_INFO=-/21.6kb/7/2.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1049-27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRAGC+c.1049-27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39305403">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,61:138:99:1427,0,2223:127	1|0:58,61:119:99:1735,0,1583:127	0|0:98,0:98:99:0,294,3458:127
1	39318004	.	A	G	1172.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs66493035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66493035" target="_blank">rs66493035</a>;ExAC.Info.AC=1335;ExAC.Info.AN=126642;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1238;ExAC.Info.AC_Hom=39;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.756+42T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=RRAGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAGC" target="_blank">RRAGC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373001;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373001;SAVANT_GENE=RRAGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAGC" target="_blank">RRAGC</a>;SAVANT_INFO=-/21.6kb/7/2.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.756+42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRAGC+c.756+42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39318004">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1107:95	0|1:24,20:44:99:605,0,707:95	0|0:39,0:39:99:0,117,1444:95
1	39325063	.	T	C	4222.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=50;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1925678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1925678" target="_blank">rs1925678</a>;ExAC.Info.AC=11627;ExAC.Info.AN=30400;ExAC.Info.AF=0.382;ExAC.Info.AC_Het=3550;ExAC.Info.AC_Hom=2061;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.237+19A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=RRAGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAGC" target="_blank">RRAGC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373001;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.238T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=RRAGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAGC" target="_blank">RRAGC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373001;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.238T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=RRAGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAGC" target="_blank">RRAGC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373001;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373001;SAVANT_GENE=RRAGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAGC" target="_blank">RRAGC</a>;SAVANT_INFO=-/21.6kb/7/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.237+19A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRAGC+c.237+19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39325063">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,10:10:30:299,30,0:29	1|0:12,12:24:99:349,0,349:29	1|1:0,16:16:48:525,48,0:29
1	39325136	.	C	T	488.78	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=37;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs112925356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112925356" target="_blank">rs112925356</a>;ExAC.Info.AC=478;ExAC.Info.AN=53116;ExAC.Info.AF=8.999e-03;ExAC.Info.AC_Het=363;ExAC.Info.AC_Hom=10;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys61Lys/c.183G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=RRAGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAGC" target="_blank">RRAGC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373001;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373001;SAVANT_GENE=RRAGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAGC" target="_blank">RRAGC</a>;SAVANT_INFO=-/21.6kb/7/2.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.183G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRAGC+c.183G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39325136">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:27:0,27,309:22	0|1:11,9:20:99:263,0,404:22	0|0:8,0:8:24:0,24,274:22
1	39330399	.	G	A	10345.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=580;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3828041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3828041" target="_blank">rs3828041</a>;ExAC.Info.AC=21569;ExAC.Info.AN=126698;ExAC.Info.AF=0.170;ExAC.Info.AC_Het=17218;ExAC.Info.AC_Hom=2162;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GJA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA9" target="_blank">GJA9</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.268-13C>T;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=MYCBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA9" target="_blank">GJA9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397572;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.240+4488G>A;snpeff.Gene_Name=RP5-864K19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA9" target="_blank">GJA9</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=MYCBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA9" target="_blank">GJA9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397572;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=MYCBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA9" target="_blank">GJA9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397572;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397572;SAVANT_GENE=MYCBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;SAVANT_INFO=-/11.1kb/5/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.268-13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYCBP+c.268-13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39330399">View</a>	GT:AD:DP:GQ:PL:TP	0|1:90,77:167:99:2039,0,2570:127	1|0:125,91:216:99:2364,0,3681:127	0|0:197,0:197:99:0,592,6845:127
1	39339449	.	C	T	6752.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12127091;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12127091" target="_blank">rs12127091</a>;ExAC.Info.AC=5106;ExAC.Info.AN=15966;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=2561;ExAC.Info.AC_Hom=876;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GJA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA9" target="_blank">GJA9</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.241-2164C>T;snpeff.Gene_Name=RP5-864K19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA9" target="_blank">GJA9</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=472;snpeff.Amino_Acid_Change=c.-472G>A;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=MYCBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA9" target="_blank">GJA9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397572;SAVANT_GENE=MYCBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;SAVANT_INFO=-/11.1kb/5/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-472G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYCBP+c.-472G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39339449">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,31:52:99:874,0,612:127	0|0:77,0:77:99:0,231,2588:127	1|1:0,52:52:99:1817,156,0:127
1	39340282	.	C	T	19266.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=539;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs880303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=880303" target="_blank">rs880303</a>;ExAC.Info.AC=49886;ExAC.Info.AN=126704;ExAC.Info.AF=0.394;ExAC.Info.AC_Het=28954;ExAC.Info.AC_Hom=10460;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MYCBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.241-1331C>T;snpeff.Gene_Name=RP5-864K19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1489C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=GJA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val497Ile/c.1489G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=GJA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357771;SAVANT_GENE=GJA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA9" target="_blank">GJA9</a>;SAVANT_INFO=-/7.6kb/2/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1489G>A_p.Val497Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJA9+c.1489G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39340282">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,76:155:99:2125,0,2018:127	0|0:206,0:206:99:0,619,7066:127	1|1:0,178:178:99:6082,534,0:127
1	39340504	.	T	G	2552.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41270783;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270783" target="_blank">rs41270783</a>;ExAC.Info.AC=7728;ExAC.Info.AN=126702;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=7154;ExAC.Info.AC_Hom=286;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MYCBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.241-1109T>G;snpeff.Gene_Name=RP5-864K19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=GJA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Aga/Cga;snpeff.Amino_Acid_Change=p.Arg423Arg/c.1267A>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=GJA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357771;SAVANT_GENE=GJA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA9" target="_blank">GJA9</a>;SAVANT_INFO=-/7.6kb/2/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1267A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJA9+c.1267A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39340504">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,1:76:99:0,184,2739:127	0|1:45,41:86:99:1295,0,1408:127	0|0:93,0:93:99:0,280,3505:127
1	39340862	.	A	G	16312.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=723;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs874243;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=874243" target="_blank">rs874243</a>;ExAC.Info.AC=21884;ExAC.Info.AN=126704;ExAC.Info.AF=0.173;ExAC.Info.AC_Het=17388;ExAC.Info.AC_Hom=2247;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MYCBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.241-751A>G;snpeff.Gene_Name=RP5-864K19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.909A>G;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=GJA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser303Ser/c.909T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=GJA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCBP" target="_blank">MYCBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357771;SAVANT_GENE=GJA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA9" target="_blank">GJA9</a>;SAVANT_INFO=-/7.6kb/2/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.909T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJA9+c.909T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39340862">View</a>	GT:AD:DP:GQ:PL:TP	0|1:114,107:221:99:3099,0,3282:127	1|0:143,120:263:99:3628,0,4091:127	0|0:239,0:239:99:0,718,8221:127
1	39352271	.	G	T	20212.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=594;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2147914;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2147914" target="_blank">rs2147914</a>;ExAC.Info.AC=49863;ExAC.Info.AN=126702;ExAC.Info.AF=0.394;ExAC.Info.AC_Het=28937;ExAC.Info.AC_Hom=10444;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.318+10581G>T;snpeff.Gene_Name=RP5-864K19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-864K194" target="_blank">RP5-864K194</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433671;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Atg;snpeff.Amino_Acid_Change=p.Leu353Met/c.1057C>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=RHBDL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-864K194" target="_blank">RP5-864K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372985;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289248;SAVANT_GENE=RHBDL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBDL2" target="_blank">RHBDL2</a>;SAVANT_INFO=-/40.5kb/8/2.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.817C>A_p.Leu273Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHBDL2+c.817C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39352271">View</a>	GT:AD:DP:GQ:PL:TP	1|0:101,92:193:99:2380,0,3168:127	0|0:211,0:211:99:0,634,7503:127	1|1:0,190:190:99:6541,571,0:127
1	39361615	.	G	A	5224.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs9438984;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9438984" target="_blank">rs9438984</a>;ExAC.Info.AC=49747;ExAC.Info.AN=126696;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=28814;ExAC.Info.AC_Hom=10198;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.849+26C>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=RHBDL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBDL2" target="_blank">RHBDL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.319-17597G>A;snpeff.Gene_Name=RP5-864K19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBDL2" target="_blank">RHBDL2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433671;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289248;SAVANT_GENE=RHBDL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBDL2" target="_blank">RHBDL2</a>;SAVANT_INFO=-/40.5kb/8/2.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.609+26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHBDL2+c.609+26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39361615">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,20:57:99:527,0,1095:127	0|0:80,0:80:99:0,240,2775:127	1|1:0,48:48:99:1720,144,0:127
1	39717566	.	T	C	8876.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2490948;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2490948" target="_blank">rs2490948</a>;ExAC.Info.AC=14734;ExAC.Info.AN=15010;ExAC.Info.AF=0.982;ExAC.Info.AC_Het=118;ExAC.Info.AC_Hom=5647;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.194-1692A>G;snpeff.Gene_Name=RP11-420K8.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-420K81" target="_blank">RP11-420K81</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289890;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys141Arg/c.421T>C;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-420K81" target="_blank">RP11-420K81</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-420K81" target="_blank">RP11-420K81</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-420K81+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39717566">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1022,93,0:114	1|1:0,39:39:99:1327,116,0:114	1|1:0,40:40:99:1415,120,0:114
1	39748921	.	G	A	13191.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2275188;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275188" target="_blank">rs2275188</a>;ExAC.Info.AC=86426;ExAC.Info.AN=126704;ExAC.Info.AF=0.682;ExAC.Info.AC_Het=25997;ExAC.Info.AC_Hom=30187;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln289Gln/c.867G>A;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39748921">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2419,210,0:127	1|0:51,34:85:99:855,0,1514:127	1|1:0,65:65:99:2204,195,0:127
1	39758634	.	G	A	7406.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=726;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs16826038;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16826038" target="_blank">rs16826038</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2103+119G>A;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39758634">View</a>	GT:AD:DP:GQ:PL:TP	0|0:212,0:212:99:0,637,7624:127	0|1:136,132:268:99:3722,0,4077:127	0|0:246,0:246:99:0,740,9060:127
1	39763242	.	G	A	29498.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2275187;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275187" target="_blank">rs2275187</a>;ExAC.Info.AC=85852;ExAC.Info.AN=126686;ExAC.Info.AF=0.678;ExAC.Info.AC_Het=26049;ExAC.Info.AC_Hom=29824;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2467-50G>A;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39763242">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3292,285,0:127	1|0:67,87:154:99:2670,0,1754:127	1|1:0,156:156:99:5704,469,0:127
1	39766041	.	A	G	1594.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41270803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270803" target="_blank">rs41270803</a>;ExAC.Info.AC=23408;ExAC.Info.AN=126690;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=18449;ExAC.Info.AC_Hom=2341;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2745+7A>G;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2746A>G;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39766041">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1302:107	0|1:24,26:50:99:816,0,795:107	0|0:41,0:41:99:0,123,1536:107
1	39766055	.	C	T	7131.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2275186;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275186" target="_blank">rs2275186</a>;ExAC.Info.AC=86301;ExAC.Info.AN=126622;ExAC.Info.AF=0.682;ExAC.Info.AC_Het=25079;ExAC.Info.AC_Hom=29185;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2745+21C>T;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39766055">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:986,87,0:86	1|0:22,20:42:99:605,0,651:86	1|1:0,32:32:96:1181,96,0:86
1	39797055	.	A	G	1836.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16826069;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16826069" target="_blank">rs16826069</a>;ExAC.Info.AC=26873;ExAC.Info.AN=126704;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20538;ExAC.Info.AC_Hom=3156;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Gta;snpeff.Amino_Acid_Change=p.Ile1636Val/c.4906A>G;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.115A>G_p.Ile39Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.115A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39797055">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,204,2274:127	0|1:41,32:73:99:937,0,1166:127	0|0:69,0:69:99:0,207,2500:127
1	39799063	.	A	G	709.23	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=387;MQ=71.56;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs78376453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78376453" target="_blank">rs78376453</a>;ExAC.Info.AC=3717;ExAC.Info.AN=126680;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=3288;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu2305Gly/c.6914A>G;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.2123A>G_p.Glu708Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.2123A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39799063">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,17:112:15:0,15,4097:15	0|1:117,34:151:99:147,0,5466:15	0|1:96,28:124:93:93,0,4154:15
1	39799071	.	C	T	641.0	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=298;MQ=70.35;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ExAC.Info.AC=1514;ExAC.Info.AN=126686;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1444;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu2308Leu/c.6922C>T;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.2131C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.2131C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39799071">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,3:85:49:0,49,4211:48	0|1:115,4:119:99:136,0,5614:48	0|1:88,6:94:78:78,0,4316:48
1	39801815	.	A	C	3298.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41270807;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270807" target="_blank">rs41270807</a>;ExAC.Info.AC=23206;ExAC.Info.AN=126596;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=18456;ExAC.Info.AC_Hom=2361;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaA/aaC;snpeff.Amino_Acid_Change=p.Lys3222Asn/c.9666A>C;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.4875A>C_p.Lys1625Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.4875A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39801815">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,2005:127	0|1:59,54:113:99:1668,0,1788:127	0|0:77,0:77:99:0,232,2784:127
1	39806610	.	C	T	30730.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3116396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3116396" target="_blank">rs3116396</a>;ExAC.Info.AC=124659;ExAC.Info.AN=126700;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=1879;ExAC.Info.AC_Hom=61313;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys3559Cys/c.10677C>T;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.5886C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.5886C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39806610">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,105:105:99:3460,316,0:127	1|1:0,173:173:99:5743,519,0:127	1|1:0,125:125:99:4336,375,0:127
1	39812822	.	C	A	16713.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2761764;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2761764" target="_blank">rs2761764</a>;ExAC.Info.AC=124639;ExAC.Info.AN=126704;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=1906;ExAC.Info.AC_Hom=61349;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcA;snpeff.Amino_Acid_Change=p.Ala3622Ala/c.10866C>A;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.6075C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.6075C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39812822">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2522,207,0:127	1|1:0,77:77:99:2705,231,0:127	1|1:0,47:47:99:1811,141,0:127
1	39815143	.	T	A	2414.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs16826093;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16826093" target="_blank">rs16826093</a>;ExAC.Info.AC=23203;ExAC.Info.AN=126690;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=18460;ExAC.Info.AC_Hom=2352;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10927-7T>A;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10927T>A;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.6136-7T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.6136-7T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39815143">View</a>	GT:AD:DP:GQ:PL:TP	0|0:102,0:102:99:0,306,3297:127	0|1:80,46:126:99:1226,0,2215:127	0|0:120,0:120:99:0,361,4182:127
1	39823032	.	A	AT	2483.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=321;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs147223845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147223845" target="_blank">rs147223845</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11536-14_11536-13insT;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.6745-6dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.6745-6dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39823032">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,323,3004:127	0|1:62,58:120:99:1265,0,1386:127	0|0:93,0:93:99:0,280,2630:127
1	39835817	.	A	G	4798.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2296172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296172" target="_blank">rs2296172</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes|_type_2|_association_with;hgmd_2014.2.OMIM_ID=608271;hgmd_2014.2.PubMed=23160641;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23160641" target="_blank">23160641</a>;ExAC.Info.AC=23245;ExAC.Info.AN=126698;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=18507;ExAC.Info.AC_Hom=2338;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met4389Val/c.13165A>G;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.8374A>G_p.Met2792Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.8374A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39835817">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,315,3325:127	0|1:65,77:142:99:2418,0,1695:127	0|0:114,0:114:99:0,343,3862:127
1	39852990	.	T	C	10084.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72661966;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72661966" target="_blank">rs72661966</a>;ExAC.Info.AC=220;ExAC.Info.AN=126704;ExAC.Info.AF=1.736e-03;ExAC.Info.AC_Het=216;ExAC.Info.AC_Hom=2;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu4863Leu/c.14587T>C;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.9796T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.9796T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39852990">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,56:113:99:1601,0,1633:127	0|0:149,0:149:99:0,448,5090:127	1|0:56,63:119:99:1815,0,1666:127
1	39854243	.	G	A	5006.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=514;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72661968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72661968" target="_blank">rs72661968</a>;ExAC.Info.AC=146;ExAC.Info.AN=126704;ExAC.Info.AF=1.152e-03;ExAC.Info.AC_Het=146;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala5280Ala/c.15840G>A;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.11049G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.11049G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39854243">View</a>	GT:AD:DP:GQ:PL:TP	0|0:160,0:160:99:0,481,5557:127	0|1:102,92:194:99:2522,0,2797:127	0|0:160,0:160:99:0,480,5546:127
1	39879366	.	T	C	1288.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=82;MQ=62.83;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs604316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=604316" target="_blank">rs604316</a>;ExAC.Info.AC=50;ExAC.Info.AN=96394;ExAC.Info.AF=5.187e-04;ExAC.Info.AC_Het=39;ExAC.Info.AC_Hom=4;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.15928-8680T>C;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3021T>C;snpeff.Amino_Acid_length=1291;snpeff.Gene_Name=KIAA0754;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530275;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3021T>C;snpeff.Amino_Acid_length=1291;snpeff.Gene_Name=KIAA0754;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530275;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro1007Pro/c.3021T>C;snpeff.Amino_Acid_length=1291;snpeff.Gene_Name=KIAA0754;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530275;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000530275:ENST00000289893;SAVANT_GENE=KIAA0754:MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0754:MACF1" target="_blank">KIAA0754:MACF1</a>;SAVANT_INFO=+/6.0kb/1/6.0kb:+/155.9kb/64/19.1kb;SAVANT_LOC=Ex1:In22/23;SAVANT_HGVS=c.3021T>C_p.=:c.11137-8680T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0754:MACF1+c.3021T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39879366">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,910:56	0|1:12,23:35:99:663,0,272:56	0|0:19,0:19:57:0,57,599:56
1	39889677	.	G	A	1898.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs663892;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=663892" target="_blank">rs663892</a>;ExAC.Info.AC=39811;ExAC.Info.AN=126518;ExAC.Info.AF=0.315;ExAC.Info.AC_Het=25710;ExAC.Info.AC_Hom=6792;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.16261-23G>A;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.11470-23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.11470-23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39889677">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2948:127	0|1:37,35:72:99:968,0,1170:127	0|0:77,0:77:99:0,231,2729:127
1	39908506	.	G	A	694.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs587404;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=587404" target="_blank">rs587404</a>;ExAC.Info.AC=37916;ExAC.Info.AN=126702;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=26222;ExAC.Info.AC_Hom=5741;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala6446Thr/c.19336G>A;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=78;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=Ex43;SAVANT_HGVS=c.14554G>A_p.Ala4852Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.14554G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39908506">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1728:127	0|1:24,13:37:99:366,0,823:127	0|0:44,0:44:99:0,132,1663:127
1	39913351	.	A	G	5414.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=538;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2296173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296173" target="_blank">rs2296173</a>;ExAC.Info.AC=23243;ExAC.Info.AN=126668;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=18508;ExAC.Info.AC_Hom=2355;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19873-13A>G;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=81;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=In46/47;SAVANT_HGVS=c.15091-13A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.15091-13A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39913351">View</a>	GT:AD:DP:GQ:PL:TP	0|0:180,0:180:99:0,541,6073:127	0|1:98,84:182:99:2726,0,2849:127	0|0:176,0:176:99:0,529,6096:127
1	39914363	.	G	C	7130.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=678;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs668556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=668556" target="_blank">rs668556</a>;ExAC.Info.AC=68275;ExAC.Info.AN=126704;ExAC.Info.AF=0.539;ExAC.Info.AC_Het=29187;ExAC.Info.AC_Hom=19525;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aCt;snpeff.Amino_Acid_Change=p.Ser6766Thr/c.20297G>C;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=84;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=Ex49;SAVANT_HGVS=c.15515G>C_p.Ser5172Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.15515G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39914363">View</a>	GT:AD:DP:GQ:PL:TP	0|0:207,0:207:99:0,622,7442:127	0|1:122,120:242:99:3584,0,3748:127	0|0:229,0:229:99:0,688,8127:127
1	39929240	.	T	C	28509.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=442;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7554206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7554206" target="_blank">rs7554206</a>;ExAC.Info.AC=89470;ExAC.Info.AN=126700;ExAC.Info.AF=0.706;ExAC.Info.AC_Het=25999;ExAC.Info.AC_Hom=31719;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.21790-44T>C;snpeff.Amino_Acid_length=7592;snpeff.Gene_Name=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567887;snpeff.Exon_Rank=93;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289893;SAVANT_GENE=MACF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACF1" target="_blank">MACF1</a>;SAVANT_INFO=+/155.9kb/64/19.1kb;SAVANT_LOC=In58/59;SAVANT_HGVS=c.17008-44T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MACF1+c.17008-44T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39929240">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,141:141:99:4910,423,0:127	1|0:73,84:157:99:2475,0,2050:127	1|1:0,144:144:99:5236,432,0:127
1	39957913	.	A	G	6096.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=66;MQ=69.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4660269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4660269" target="_blank">rs4660269</a>;ExAC.Info.AC=92732;ExAC.Info.AN=112058;ExAC.Info.AF=0.828;ExAC.Info.AC_Het=11661;ExAC.Info.AC_Hom=36135;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.250A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.250A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.250A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.250A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met84Val/c.250A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.250A>G_p.Met84Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.250A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39957913">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,22:22:66:715,66,0:62	1|1:0,21:21:63:718,63,0:62	1|1:0,23:23:69:747,69,0:62
1	39976930	.	C	T	52.04	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=7;MQ=38.83;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201515760;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201515760" target="_blank">rs201515760</a>;ExAC.Info.AC=4168;ExAC.Info.AN=86484;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=662;ExAC.Info.AC_Hom=124;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.419C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.419C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.419C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.419C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala140Val/c.419C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.419C>T_p.Ala140Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.419C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39976930">View</a>	GT:AD:DP:GQ:PL:TP	1|0:1,2:3:26:66,0,26:5	0|0:3,0:3:9:0,9,98:5	1|0:1,0:1:2:0,3,37:5
1	39976974	.	C	T	35.48	PASS	InheritancePattern=unknown;AC=1;AF=0.250;AN=4;DP=5;MQ=36.51;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=./.;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs202230393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202230393" target="_blank">rs202230393</a>;ExAC.Info.AC=992;ExAC.Info.AN=60910;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=227;ExAC.Info.AC_Hom=45;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Tac;snpeff.Amino_Acid_Change=p.His155Tyr/c.463C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.463C>T_p.His155Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.463C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39976974">View</a>	GT:AD:DP:GQ:PL:TP	1|0:0,2:2:1:69,6,0:3	0|0:3,0:3:9:0,9,107:3	./.
1	39977575	.	C	T	145.08	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=7;MQ=30.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs200415763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200415763" target="_blank">rs200415763</a>;ExAC.Info.AC=38621;ExAC.Info.AN=60008;ExAC.Info.AF=0.644;ExAC.Info.AC_Het=1470;ExAC.Info.AC_Hom=793;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp224Asp/c.672C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.672C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.672C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39977575">View</a>	GT:AD:DP:GQ:PL:TP	0|1:2,1:3:26:26,0,61:4	1|1:0,2:2:6:70,6,0:4	0|0:2,0:2:6:0,6,69:4
1	39981522	.	G	A	2108.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=169;MQ=50.75;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs200818147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200818147" target="_blank">rs200818147</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.895G>A;snpeff.Gene_Name=OXCT2P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.673+3946G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.673+3946G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.673+3946G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39981522">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1492:125	0|1:30,38:68:99:1073,0,831:125	0|0:59,0:59:99:0,177,1970:125
1	39982046	.	A	G	287.5	PASS	InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=3;MQ=30.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=./.;dbSNP139.ID=rs201169762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201169762" target="_blank">rs201169762</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1419A>G;snpeff.Gene_Name=OXCT2P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.673+4470A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.673+4470A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.673+4470A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39982046">View</a>	GT:AD:DP:GQ:PL	./.	./.	1|1:0,3:3:9:104,9,0
1	39982155	.	T	C	152.11	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=2;MQ=30.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=./.;NA12891_GT=1|1;dbSNP139.ID=rs200707198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200707198" target="_blank">rs200707198</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1528T>C;snpeff.Gene_Name=OXCT2P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.673+4579T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OXCT2P1" target="_blank">OXCT2P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.673+4579T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.673+4579T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39982155">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,1:1:3:35,3,0:2	1|1:0,1:1:3:35,3,0:2	./.
1	39986904	.	A	T	100.15	PASS	InheritancePattern=unknown;AC=2;AF=0.500;AN=4;DP=5;MQ=30.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=0|0;NA12891_GT=1|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.674-144A>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.674-144A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.674-144A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39986904">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,2:2:6:70,6,0	0|0:3,0:3:9:0,9,104
1	39988084	.	G	A	1505.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=81;MQ=63.16;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6525" target="_blank">rs6525</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=58544;ExAC.Info.AN=126632;ExAC.Info.AF=0.462;ExAC.Info.AC_Het=28802;ExAC.Info.AC_Hom=13044;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2109C>T;snpeff.Gene_Name=RP11-69E11.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-69E114" target="_blank">RP11-69E114</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000331856;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg293His/c.878G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-69E114" target="_blank">RP11-69E114</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.878G>A_p.Arg293His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.878G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39988084">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,11:36:99:286,0,715:127	0/1:19,10:29:99:309,0,606:127	0/1:11,5:16:99:138,0,353:127
1	39988799	.	G	A	4256.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41270825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270825" target="_blank">rs41270825</a>;ExAC.Info.AC=5467;ExAC.Info.AN=126704;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=5234;ExAC.Info.AC_Hom=113;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1059+10G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2015+435C>T;snpeff.Gene_Name=RP11-69E11.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000331856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1060G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1060G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1060G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1059+10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.1059+10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39988799">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,14:38:99:374,0,686:127	1|0:26,26:52:99:724,0,674:127	0|0:68,0:68:99:0,204,2316:127
1	39991474	.	A	C	9240.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=258;MQ=69.61;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11583829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11583829" target="_blank">rs11583829</a>;ExAC.Info.AC=17509;ExAC.Info.AN=126700;ExAC.Info.AF=0.138;ExAC.Info.AC_Het=14533;ExAC.Info.AC_Hom=1469;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-69E11.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-69E114" target="_blank">RP11-69E114</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=4;snpeff.Amino_Acid_Change=c.*4A>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-69E114" target="_blank">RP11-69E114</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*4A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.*4A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39991474">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,33:69:99:1296,0,1456:127	0|0:112,0:112:99:0,346,5121:127	1|0:37,40:77:99:1544,0,1428:127
1	39991475	.	G	A	9240.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=261;MQ=69.61;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2230006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230006" target="_blank">rs2230006</a>;ExAC.Info.AC=17486;ExAC.Info.AN=126700;ExAC.Info.AF=0.138;ExAC.Info.AC_Het=14522;ExAC.Info.AC_Hom=1464;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-69E11.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-69E114" target="_blank">RP11-69E114</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=5;snpeff.Amino_Acid_Change=c.*5G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-69E114" target="_blank">RP11-69E114</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331593;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331593;SAVANT_GENE=BMP8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8A" target="_blank">BMP8A</a>;SAVANT_INFO=+/34.3kb/7/1.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*5G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8A+c.*5G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:39991475">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,34:71:99:1296,0,1456:127	0|0:113,0:113:99:0,346,5121:127	1|0:37,40:77:99:1544,0,1428:127
1	40030295	.	A	C	1702.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72663532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72663532" target="_blank">rs72663532</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1333+63T>G;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372858;SAVANT_GENE=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;SAVANT_INFO=-/15.6kb/16/2.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1333+63T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PABPC4+c.1333+63T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40030295">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1829:127	0|1:40,28:68:99:870,0,1181:127	0|0:79,0:79:99:0,237,2636:127
1	40035182	.	A	G	2891.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs9438926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9438926" target="_blank">rs9438926</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.738+85T>C;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.61-970A>G;snpeff.Gene_Name=RP11-69E11.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415255;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.739A>G;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.739A>G;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.739A>G;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372858;SAVANT_GENE=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;SAVANT_INFO=-/15.6kb/16/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.738+85T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PABPC4+c.738+85T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40035182">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,25:46:99:736,0,677:120	0|0:40,0:40:99:0,120,1496:120	1|0:21,18:39:99:469,0,703:120
1	40035686	.	C	T	5652.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=518;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17513135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17513135" target="_blank">rs17513135</a>;ExAC.Info.AC=21487;ExAC.Info.AN=126304;ExAC.Info.AF=0.170;ExAC.Info.AC_Het=17038;ExAC.Info.AC_Hom=2186;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.504-12G>A;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.61-466C>T;snpeff.Gene_Name=RP11-69E11.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415255;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.504C>T;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.504C>T;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.504C>T;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372858;SAVANT_GENE=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;SAVANT_INFO=-/15.6kb/16/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.504-12G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PABPC4+c.504-12G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40035686">View</a>	GT:AD:DP:GQ:PL:TP	0|0:168,0:168:99:0,505,5893:127	0|1:96,101:197:99:2845,0,2609:127	0|0:153,0:153:99:0,460,5206:127
1	40037354	.	C	G	1112.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41264487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264487" target="_blank">rs41264487</a>;ExAC.Info.AC=1396;ExAC.Info.AN=18696;ExAC.Info.AF=0.075;ExAC.Info.AC_Het=917;ExAC.Info.AC_Hom=74;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.388-333G>C;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.205-773C>G;snpeff.Gene_Name=RP11-69E11.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415255;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388C>G;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388C>G;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388C>G;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372858;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372858;SAVANT_GENE=PABPC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PABPC4" target="_blank">PABPC4</a>;SAVANT_INFO=-/15.6kb/16/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.388-333G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PABPC4+c.388-333G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40037354">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,809:77	0|1:13,22:35:99:575,0,313:77	0|0:27,0:27:81:0,81,826:77
1	40098328	.	T	C	15795.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs784625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=784625" target="_blank">rs784625</a>;ExAC.Info.AC=125295;ExAC.Info.AN=126702;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1355;ExAC.Info.AC_Hom=61953;snpeff.Effect=sequence_feature[domain:bHLH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140T>C;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=HEYL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEYL" target="_blank">HEYL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372852;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:bHLH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140T>C;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=HEYL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEYL" target="_blank">HEYL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372852;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:bHLH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140T>C;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=HEYL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEYL" target="_blank">HEYL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372852;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Transcriptional_repression_and_interaction_with_NCOR1_and_SIN3A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140T>C;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=HEYL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEYL" target="_blank">HEYL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372852;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Transcriptional_repression_and_interaction_with_NCOR1_and_SIN3A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140T>C;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=HEYL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEYL" target="_blank">HEYL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372852;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Transcriptional_repression_and_interaction_with_NCOR1_and_SIN3A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140T>C;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=HEYL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEYL" target="_blank">HEYL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372852;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Transcriptional_repression_and_interaction_with_NCOR1_and_SIN3A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140T>C;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=HEYL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEYL" target="_blank">HEYL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372852;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His47Arg/c.140A>G;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=HEYL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEYL" target="_blank">HEYL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372852;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372852;SAVANT_GENE=HEYL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEYL" target="_blank">HEYL</a>;SAVANT_INFO=-/15.8kb/5/3.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.140A>G_p.His47Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEYL+c.140A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40098328">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:1978,198,0:114	1|1:0,84:84:99:2705,252,0:114	1|1:1,51:52:99:1690,114,0:114
1	40145297	.	C	T	8946.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6703320;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6703320" target="_blank">rs6703320</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2911;snpeff.Amino_Acid_Change=c.*2911G>A;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=HPCAL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCAL4" target="_blank">HPCAL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372844;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372844;SAVANT_GENE=HPCAL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCAL4" target="_blank">HPCAL4</a>;SAVANT_INFO=-/13.0kb/4/4.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2911G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPCAL4+c.*2911G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40145297">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,406,4541:127	0|1:70,96:166:99:2793,0,2001:127	0|1:57,61:118:99:1700,0,1493:127
1	40149642	.	G	T	26383.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs784634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=784634" target="_blank">rs784634</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=104708;ExAC.Info.AN=126678;ExAC.Info.AF=0.827;ExAC.Info.AC_Het=17869;ExAC.Info.AC_Hom=43122;snpeff.Effect=sequence_feature[calcium-binding_region:2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.345G>T;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=HPCAL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCAL4" target="_blank">HPCAL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372844;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.345G>T;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=HPCAL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCAL4" target="_blank">HPCAL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372844;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.345G>T;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=HPCAL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCAL4" target="_blank">HPCAL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372844;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgA;snpeff.Amino_Acid_Change=p.Arg115Arg/c.345C>A;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=HPCAL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCAL4" target="_blank">HPCAL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372844;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372844;SAVANT_GENE=HPCAL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCAL4" target="_blank">HPCAL4</a>;SAVANT_INFO=-/13.0kb/4/4.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.345C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPCAL4+c.345C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40149642">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2355,210,0:127	1|1:0,116:116:99:4158,349,0:127	1|1:0,92:92:99:3262,276,0:127
1	40150156	.	G	A	9634.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=167;MQ=69.98;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs9662128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9662128" target="_blank">rs9662128</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=42285;ExAC.Info.AN=126688;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=27452;ExAC.Info.AC_Hom=7200;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.120G>A;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=HPCAL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCAL4" target="_blank">HPCAL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372844;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.120G>A;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=HPCAL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCAL4" target="_blank">HPCAL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372844;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser40Ser/c.120C>T;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=HPCAL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCAL4" target="_blank">HPCAL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372844;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372844;SAVANT_GENE=HPCAL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPCAL4" target="_blank">HPCAL4</a>;SAVANT_INFO=-/13.0kb/4/4.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.120C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPCAL4+c.120C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40150156">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2108,216,0:127	1|0:23,25:48:99:760,0,648:127	1|0:22,25:47:99:699,0,672:127
1	40207169	.	T	G	12760.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs497333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=497333" target="_blank">rs497333</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.174+88T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372830;SAVANT_GENE=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;SAVANT_INFO=+/25.0kb/11/1.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.174+88T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPIE+c.174+88T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40207169">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,25:67:99:743,0,1277:127	1|1:1,94:95:99:3272,246,0:127	0|1:38,49:87:99:1474,0,1170:127
1	40209687	.	G	A	344.76	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.384+91G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372830;SAVANT_GENE=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;SAVANT_INFO=+/25.0kb/11/1.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.384+91G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPIE+c.384+91G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40209687">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,6:24:99:125,0,591:8	0|0:33,0:33:99:0,99,1249:8	1|0:24,0:24:0:0,72,940:8
1	40218695	.	G	A	7734.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P|P|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72665281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72665281" target="_blank">rs72665281</a>;ExAC.Info.AC=10;ExAC.Info.AN=126704;ExAC.Info.AF=7.892e-05;ExAC.Info.AC_Het=10;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Aaa;snpeff.Amino_Acid_Change=p.Glu270Lys/c.808G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372830;SAVANT_GENE=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE" target="_blank">PPIE</a>;SAVANT_INFO=+/25.0kb/11/1.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.808G>A_p.Glu270Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPIE+c.808G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40218695">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,62:120:99:1663,0,1633:127	0|0:133,0:133:99:0,400,4571:127	1|0:62,48:110:99:1300,0,1846:127
1	40229368	.	A	G	4640.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=147;MQ=59.64;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2463260;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2463260" target="_blank">rs2463260</a>;ExAC.Info.AC=49395;ExAC.Info.AN=125540;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=23525;ExAC.Info.AC_Hom=10982;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.948+16T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1072;snpeff.Amino_Acid_Change=c.*35A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=PPIE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372830;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.949A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.949A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.949A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372830:ENST00000372827;SAVANT_GENE=PPIE:BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIE:BMP8B" target="_blank">PPIE:BMP8B</a>;SAVANT_INFO=+/25.0kb/11/1.2kb:-/31.7kb/7/4.8kb;SAVANT_LOC=3UTR:In5/6;SAVANT_HGVS=c.*1072A>G:c.948+16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPIE:BMP8B+c.*1072A>G:c.948+16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40229368">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,15:44:99:412,0,742:127	1|1:0,46:46:99:1658,138,0:127	0|0:57,0:57:99:0,171,1944:127
1	40230336	.	C	G	748.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=46.68;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76376226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76376226" target="_blank">rs76376226</a>;ExAC.Info.AC=42896;ExAC.Info.AN=126672;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=40375;ExAC.Info.AC_Hom=1149;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aCc;snpeff.Amino_Acid_Change=p.Ser276Thr/c.827G>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372827;SAVANT_GENE=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;SAVANT_INFO=-/31.7kb/7/4.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.827G>C_p.Ser276Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8B+c.827G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40230336">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2104:127	0|0:55,0:55:99:0,165,1773:127	0|1:49,18:67:99:393,0,1363:127
1	40230531	.	C	T	446.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=80;MQ=41.22;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs115705483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115705483" target="_blank">rs115705483</a>;ExAC.Info.AC=17194;ExAC.Info.AN=126298;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=16039;ExAC.Info.AC_Hom=492;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.674-42G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372827;SAVANT_GENE=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;SAVANT_INFO=-/31.7kb/7/4.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.674-42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8B+c.674-42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40230531">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1241:48	0|1:20,9:29:99:242,0,571:48	0|0:16,0:16:48:0,48,588:48
1	40235448	.	C	T	145.78	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=210;MQ=59.53;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs150795467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150795467" target="_blank">rs150795467</a>;ExAC.Info.AC=7503;ExAC.Info.AN=126652;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=5837;ExAC.Info.AC_Hom=10;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.673+4532G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp494Asn/c.1480G>A;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=OXCT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327582;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372827:ENST00000327582;SAVANT_GENE=BMP8B:OXCT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B:OXCT2" target="_blank">BMP8B:OXCT2</a>;SAVANT_INFO=-/31.7kb/7/4.8kb:-/1.8kb/1/1.8kb;SAVANT_LOC=In3/4:Ex1;SAVANT_HGVS=c.673+4532G>A:c.1480G>A_p.Asp494Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8B:OXCT2+c.673+4532G>A:c.1480G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40235448">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,13:69:99:178,0,1652:17	1|0:63,7:70:1:0,7,2033:17	0|0:65,6:71:25:0,25,2063:17
1	40235489	.	T	C	411.0	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=265;MQ=62.74;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77857664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77857664" target="_blank">rs77857664</a>;ExAC.Info.AC=3539;ExAC.Info.AN=126660;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=2384;ExAC.Info.AC_Hom=45;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.673+4491A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu480Gly/c.1439A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=OXCT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327582;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372827:ENST00000327582;SAVANT_GENE=BMP8B:OXCT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B:OXCT2" target="_blank">BMP8B:OXCT2</a>;SAVANT_INFO=-/31.7kb/7/4.8kb:-/1.8kb/1/1.8kb;SAVANT_LOC=In3/4:Ex1;SAVANT_HGVS=c.673+4491A>G:c.1439A>G_p.Glu480Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8B:OXCT2+c.673+4491A>G:c.1439A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40235489">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,14:82:99:234,0,2210:36	0/1:83,9:92:36:36,0,2566:36	0/1:81,10:91:72:72,0,2547:36
1	40236074	.	A	C	690.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=295;MQ=61.36;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs230321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=230321" target="_blank">rs230321</a>;ExAC.Info.AC=25911;ExAC.Info.AN=126366;ExAC.Info.AF=0.205;ExAC.Info.AC_Het=17794;ExAC.Info.AC_Hom=3021;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.673+3906T>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cGg;snpeff.Amino_Acid_Change=p.Leu285Arg/c.854T>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=OXCT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327582;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372827:ENST00000327582;SAVANT_GENE=BMP8B:OXCT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B:OXCT2" target="_blank">BMP8B:OXCT2</a>;SAVANT_INFO=-/31.7kb/7/4.8kb:-/1.8kb/1/1.8kb;SAVANT_LOC=In3/4:Ex1;SAVANT_HGVS=c.673+3906T>G:c.854T>G_p.Leu285Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8B:OXCT2+c.673+3906T>G:c.854T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40236074">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,315,3492:127	0|0:130,0:130:99:0,391,4312:127	0|1:46,14:60:99:364,0,1407:127
1	40253768	.	C	CA	1198.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=52;MQ=65.43;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs60164088;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60164088" target="_blank">rs60164088</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.334+56_334+55insT;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335_336insA;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335_336insA;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335_336insA;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335_336insA;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000372827;SAVANT_GENE=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;SAVANT_INFO=-/31.7kb/7/4.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.334+55_334+56insT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8B+c.334+55_334+56insT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40253768">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,1392:72	0|1:9,6:15:99:306,0,453:72	0|1:5,8:13:99:318,0,311:72
1	40253770	.	C	T	1208.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=57;MQ=65.64;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4068800;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4068800" target="_blank">rs4068800</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.334+54G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372827;SAVANT_GENE=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;SAVANT_INFO=-/31.7kb/7/4.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.334+54G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8B+c.334+54G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40253770">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,1392:72	0|1:10,9:19:99:306,0,453:72	0|1:6,8:14:99:318,0,311:72
1	40253786	.	C	T	996.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=68;MQ=66.26;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs230329;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=230329" target="_blank">rs230329</a>;ExAC.Info.AC=53462;ExAC.Info.AN=114636;ExAC.Info.AF=0.466;ExAC.Info.AC_Het=24323;ExAC.Info.AC_Hom=11279;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.334+38G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372827;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372827;SAVANT_GENE=BMP8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMP8B" target="_blank">BMP8B</a>;SAVANT_INFO=-/31.7kb/7/4.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.334+38G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMP8B+c.334+38G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40253786">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,927:78	0|1:12,11:23:99:289,0,374:78	0|1:11,8:19:99:229,0,360:78
1	40319587	.	A	C	20942.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2294814;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294814" target="_blank">rs2294814</a>;ExAC.Info.AC=64015;ExAC.Info.AN=126526;ExAC.Info.AF=0.506;ExAC.Info.AC_Het=28608;ExAC.Info.AC_Hom=16321;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.414+55T>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=TRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIT1" target="_blank">TRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316891;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316891;SAVANT_GENE=TRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIT1" target="_blank">TRIT1</a>;SAVANT_INFO=-/42.5kb/11/2.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.414+55T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIT1+c.414+55T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40319587">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4308,373,0:127	1|0:84,69:153:99:2074,0,2395:127	1|0:75,57:132:99:1592,0,2018:127
1	40349131	.	G	A	6653.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3845570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3845570" target="_blank">rs3845570</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=55463;ExAC.Info.AN=126532;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=29385;ExAC.Info.AC_Hom=12310;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.33G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=TRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIT1" target="_blank">TRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316891;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro11Pro/c.33C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=TRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIT1" target="_blank">TRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316891;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316891;SAVANT_GENE=TRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIT1" target="_blank">TRIT1</a>;SAVANT_INFO=-/42.5kb/11/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.33C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIT1+c.33C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40349131">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1440,126,0:125	1|0:11,16:27:99:447,0,349:125	1|0:15,11:26:99:299,0,498:125
1	40363054	.	G	C	14100.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3134614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3134614" target="_blank">rs3134614</a>;ExAC.Info.AC=112028;ExAC.Info.AN=126648;ExAC.Info.AF=0.885;ExAC.Info.AC_Het=12300;ExAC.Info.AC_Hom=49212;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aGt;snpeff.Amino_Acid_Change=p.Thr392Ser/c.1175C>G;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=MYCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCL" target="_blank">MYCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397332;SAVANT_GENE=MYCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCL1" target="_blank">MYCL1</a>;SAVANT_INFO=-/6.6kb/3/3.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1175C>G_p.Thr392Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYCL1+c.1175C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40363054">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1877,156,0:127	1|1:0,55:55:99:1918,165,0:127	1|1:0,55:55:99:2040,165,0:127
1	40367590	.	ACAAGCGCGCCCCCCCCG	A	59.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=23;ExAC.Info.AN=1898;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=31;snpeff.Amino_Acid_Change=c.-47_-63delCGGGGGGGGCGCGCTTG;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=MYCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCL" target="_blank">MYCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000397332;SAVANT_GENE=MYCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCL1" target="_blank">MYCL1</a>;SAVANT_INFO=-/6.6kb/3/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-47_-31del17;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYCL1+c.-47_-31del17+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40367590">View</a>	GT:AD:DP:GQ:PL:TP	0|0:16,0:16:50:0,50,756:48	0|0:26,0:26:77:0,77,1168:48	0|1:11,2:13:53:53,0,454:48
1	40367592	.	A	G	3762.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs804719;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=804719" target="_blank">rs804719</a>;ExAC.Info.AC=1196;ExAC.Info.AN=1200;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=2;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=32;snpeff.Amino_Acid_Change=c.-32T>C;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=MYCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCL" target="_blank">MYCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397332;SAVANT_GENE=MYCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYCL1" target="_blank">MYCL1</a>;SAVANT_INFO=-/6.6kb/3/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-32T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYCL1+c.-32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40367592">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,14:14:41:402,41,0:40	1|1:0,20:20:59:679,59,0:40	1|0:2,9:11:59:205,0,59:40
1	40533266	.	T	G	11010.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11207440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11207440" target="_blank">rs11207440</a>;ExAC.Info.AC=125330;ExAC.Info.AN=125336;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=62413;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala/Pro/Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.685T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Ggt;snpeff.Amino_Acid_Change=p.Cys229Gly/c.685T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372797;SAVANT_GENE=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;SAVANT_INFO=+/32.4kb/13/3.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.685T>G_p.Cys229Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAP1+c.685T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40533266">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:72:1037,72,0:101	1|1:0,51:51:99:2175,153,0:101	1|1:0,34:34:99:1437,102,0:101
1	40533287	.	T	G	10887.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6665926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665926" target="_blank">rs6665926</a>;ExAC.Info.AC=125296;ExAC.Info.AN=125308;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=62329;snpeff.Effect=sequence_feature[compositionally_biased_region:Poly-Pro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala/Pro/Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Ggc;snpeff.Amino_Acid_Change=p.Cys236Gly/c.706T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372797;SAVANT_GENE=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;SAVANT_INFO=+/32.4kb/13/3.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.706T>G_p.Cys236Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAP1+c.706T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40533287">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:83:1108,83,0:98	1|1:0,48:48:99:2048,147,0:98	1|1:0,32:32:99:1420,99,0:98
1	40533315	.	T	G	10748.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6665933;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665933" target="_blank">rs6665933</a>;ExAC.Info.AC=125345;ExAC.Info.AN=125348;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=62292;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala/Pro/Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.734T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aGt;snpeff.Amino_Acid_Change=p.Ile245Ser/c.734T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372797;SAVANT_GENE=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;SAVANT_INFO=+/32.4kb/13/3.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.734T>G_p.Ile245Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAP1+c.734T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40533315">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:87:1299,87,0:86	1|1:0,44:44:99:1999,135,0:86	1|1:0,27:27:87:1285,87,0:86
1	40533320	.	T	G	11137.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6665936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665936" target="_blank">rs6665936</a>;ExAC.Info.AC=125345;ExAC.Info.AN=125348;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=62298;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala/Pro/Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.739T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Ggc;snpeff.Amino_Acid_Change=p.Cys247Gly/c.739T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372797;SAVANT_GENE=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;SAVANT_INFO=+/32.4kb/13/3.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.739T>G_p.Cys247Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAP1+c.739T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40533320">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:90:1350,90,0:92	1|1:0,45:45:99:2025,135,0:92	1|1:0,28:28:93:1375,93,0:92
1	40533326	.	T	G	11358.93	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6665937;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665937" target="_blank">rs6665937</a>;ExAC.Info.AC=125342;ExAC.Info.AN=125346;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=62320;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala/Pro/Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Gat;snpeff.Amino_Acid_Change=p.Tyr249Asp/c.745T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372797;SAVANT_GENE=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;SAVANT_INFO=+/32.4kb/13/3.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.745T>G_p.Tyr249Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAP1+c.745T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40533326">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1305,87,0:89	1|1:1,46:47:99:2107,139,0:89	1|1:0,29:29:90:1350,90,0:89
1	40533347	.	T	G	11728.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6665944;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665944" target="_blank">rs6665944</a>;ExAC.Info.AC=125388;ExAC.Info.AN=125396;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=62406;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala/Pro/Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.766T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Gca;snpeff.Amino_Acid_Change=p.Ser256Ala/c.766T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372797;SAVANT_GENE=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;SAVANT_INFO=+/32.4kb/13/3.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.766T>G_p.Ser256Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAP1+c.766T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40533347">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1399,96,0:98	1|1:1,43:44:99:1901,130,0:98	1|1:0,30:30:99:1440,99,0:98
1	40536074	.	C	CT	33779.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs58190778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58190778" target="_blank">rs58190778</a>;ExAC.Info.AC=124994;ExAC.Info.AN=125212;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=210;ExAC.Info.AC_Hom=62293;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1118-27_1118-26insT;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1118_1119insT;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1118_1119insT;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-CAP/cofactor_C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1118_1119insT;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-CAP/cofactor_C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1118_1119insT;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-CAP/cofactor_C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1118_1119insT;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-CAP/cofactor_C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1118_1119insT;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-CAP/cofactor_C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1118_1119insT;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372792;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000372797;SAVANT_GENE=CAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAP1" target="_blank">CAP1</a>;SAVANT_INFO=+/32.4kb/13/3.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1118-28_1118-27insT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAP1+c.1118-28_1118-27insT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40536074">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:4318,322,0:127	1|1:0,165:165:99:6625,499,0:127	1|1:0,91:91:99:3682,276,0:127
1	40558256	.	C	G	26403.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_1|_256730_(3);dbSNP139.ID=rs4481840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4481840" target="_blank">rs4481840</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125-77G>C;snpeff.Amino_Acid_length=306;snpeff.Gene_Name=PPT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPT1" target="_blank">PPT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000433473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433473;SAVANT_GENE=PPT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPT1" target="_blank">PPT1</a>;SAVANT_INFO=-/25.0kb/9/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.125-77G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPT1+c.125-77G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40558256">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:4135,328,0:127	1|1:0,135:135:99:4935,405,0:127	1|1:0,111:111:99:4240,334,0:127
1	40705427	.	C	G	10388.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=467;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34141181;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34141181" target="_blank">rs34141181</a>;ExAC.Info.AC=6877;ExAC.Info.AN=126700;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=6303;ExAC.Info.AC_Hom=282;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln1685Glu/c.5053C>G;snpeff.Amino_Acid_length=1914;snpeff.Gene_Name=RLF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RLF" target="_blank">RLF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372771;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372771;SAVANT_GENE=RLF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RLF" target="_blank">RLF</a>;SAVANT_INFO=+/79.5kb/8/6.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.5053C>G_p.Gln1685Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RLF+c.5053C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40705427">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,83:165:99:2407,0,2385:127	0|0:162,0:162:99:0,487,5706:127	1|0:70,70:140:99:2176,0,2041:127
1	40705726	.	A	T	7552.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10889205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10889205" target="_blank">rs10889205</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=22408;ExAC.Info.AN=126704;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=17970;ExAC.Info.AC_Hom=2192;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaA/gaT;snpeff.Amino_Acid_Change=p.Glu1784Asp/c.5352A>T;snpeff.Amino_Acid_length=1914;snpeff.Gene_Name=RLF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RLF" target="_blank">RLF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372771;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372771;SAVANT_GENE=RLF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RLF" target="_blank">RLF</a>;SAVANT_INFO=+/79.5kb/8/6.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.5352A>T_p.Glu1784Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RLF+c.5352A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40705726">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,53:97:99:1564,0,1328:127	1|0:68,55:123:99:1706,0,2141:127	0|0:113,0:113:99:0,340,4386:127
1	40773123	.	G	C	4180.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Epiphyseal_dysplasia|_multiple|_2|_600204_(3)|_{Intervertebral_disc_disease|_susceptibility_to}|_603932_(3)|_Stickler_syndrome|_type_V|_614284_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2228567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228567" target="_blank">rs2228567</a>;cosmic68.Histology_subtype=plasma_cell_myeloma;ExAC.Info.AC=13120;ExAC.Info.AN=126700;ExAC.Info.AF=0.104;ExAC.Info.AC_Het=11556;ExAC.Info.AC_Hom=709;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003G>C;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003G>C;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003G>C;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003G>C;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003G>C;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003G>C;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003G>C;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003G>C;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003G>C;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" 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target="_blank">COL9A2</a>;SAVANT_INFO=-/16.8kb/32/2.9kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.1003C>G_p.Leu335Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL9A2+c.1003C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40773123">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,23:32:99:773,0,291:127	1|0:34,27:61:99:851,0,1099:127	0|0:52,0:52:99:0,156,2035:127
1	40777884	.	C	CT	354.3	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=63;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Epiphyseal_dysplasia|_multiple|_2|_600204_(3)|_{Intervertebral_disc_disease|_susceptibility_to}|_603932_(3)|_Stickler_syndrome|_type_V|_614284_(3);dbSNP139.ID=rs34036643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34036643" target="_blank">rs34036643</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.364-100_364-101insA;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" 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target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_4__COL4_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364_365insT;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_4__COL4_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364_365insT;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_4__COL4_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364_365insT;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_4__COL4_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364_365insT;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_4__COL4_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364_365insT;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372748;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000372748;SAVANT_GENE=COL9A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL9A2" target="_blank">COL9A2</a>;SAVANT_INFO=-/16.8kb/32/2.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.364-101dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL9A2+c.364-101dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40777884">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,5:16:62:62,0,151:41	1|0:19,5:24:37:37,0,362:41	0|0:22,1:23:42:0,42,405:41
1	40840353	.	A	G	9865.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1003710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1003710" target="_blank">rs1003710</a>;ExAC.Info.AC=10506;ExAC.Info.AN=23776;ExAC.Info.AF=0.442;ExAC.Info.AC_Het=4448;ExAC.Info.AC_Hom=2333;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.103+458A>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C4-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.104A>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C4-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.104A>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Arf-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.104A>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Arf-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.104A>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Arf-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.104A>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Arf-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.104A>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Arf-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.104A>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372718;SAVANT_GENE=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;SAVANT_INFO=+/49.6kb/10/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.103+458A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMAP2+c.103+458A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40840353">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,46:93:99:1252,0,1297:127	1|1:0,84:84:99:2917,252,0:127	0|0:78,0:78:99:0,234,2639:127
1	40879808	.	G	T	35670.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs209605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=209605" target="_blank">rs209605</a>;ExAC.Info.AC=108458;ExAC.Info.AN=126690;ExAC.Info.AF=0.856;ExAC.Info.AC_Het=15618;ExAC.Info.AC_Hom=46374;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.490-23G>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490G>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490G>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490G>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490G>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372718;SAVANT_GENE=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;SAVANT_INFO=+/49.6kb/10/2.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.490-23G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMAP2+c.490-23G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40879808">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:3968,358,0:127	1|1:0,166:166:99:5586,498,0:127	1|1:0,139:139:99:4719,418,0:127
1	40879952	.	T	G	10541.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=463;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2294752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294752" target="_blank">rs2294752</a>;ExAC.Info.AC=32067;ExAC.Info.AN=126672;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=22887;ExAC.Info.AC_Hom=4269;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.571+40T>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572T>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572T>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572T>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572T>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372718;SAVANT_GENE=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;SAVANT_INFO=+/49.6kb/10/2.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.571+40T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMAP2+c.571+40T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40879952">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,62:127:99:1651,0,1884:127	1|0:93,85:178:99:2448,0,2635:127	0|0:158,0:158:99:0,475,5219:127
1	40881041	.	C	G	26129.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs209606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=209606" target="_blank">rs209606</a>;ExAC.Info.AC=113590;ExAC.Info.AN=126702;ExAC.Info.AF=0.897;ExAC.Info.AC_Het=11413;ExAC.Info.AC_Hom=51080;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.669C>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.669C>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.669C>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin_heavy_chains];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.669C>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcG;snpeff.Amino_Acid_Change=p.Ser223Ser/c.669C>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372718;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372718;SAVANT_GENE=SMAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMAP2" target="_blank">SMAP2</a>;SAVANT_INFO=+/49.6kb/10/2.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.669C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMAP2+c.669C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40881041">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3769,319,0:127	1|1:0,130:130:99:4388,391,0:127	1|1:0,98:98:99:3337,294,0:127
1	40923019	.	G	A	6742.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=726;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2272994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272994" target="_blank">rs2272994</a>;ExAC.Info.AC=31983;ExAC.Info.AN=126704;ExAC.Info.AF=0.252;ExAC.Info.AC_Het=22995;ExAC.Info.AC_Hom=4462;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344G>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ZFP69B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP69B" target="_blank">ZFP69B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000411995;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344G>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ZFP69B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP69B" target="_blank">ZFP69B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000411995;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tAt;snpeff.Amino_Acid_Change=p.Cys115Tyr/c.344G>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ZFP69B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP69B" target="_blank">ZFP69B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000411995;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000411995;SAVANT_GENE=ZNF643;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF643" target="_blank">ZNF643</a>;SAVANT_INFO=+/13.6kb/6/2.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.344G>A_p.Cys115Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF643+c.344G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40923019">View</a>	GT:AD:DP:GQ:PL:TP	0|0:248,1:249:99:0,710,8568:127	0|1:139,126:265:99:3390,0,4136:127	0|0:212,0:212:99:0,637,7687:127
1	40928067	.	A	T	3997.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2036196;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2036196" target="_blank">rs2036196</a>;ExAC.Info.AC=13512;ExAC.Info.AN=126090;ExAC.Info.AF=0.107;ExAC.Info.AC_Het=11143;ExAC.Info.AC_Hom=825;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.437-26A>T;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ZFP69B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP69B" target="_blank">ZFP69B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000411995;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000411995;SAVANT_GENE=ZNF643;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF643" target="_blank">ZNF643</a>;SAVANT_INFO=+/13.6kb/6/2.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.437-26A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF643+c.437-26A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40928067">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,34:65:99:918,0,805:127	1|0:35,34:69:99:1017,0,1071:127	0|0:58,0:58:99:0,174,2092:127
1	40980226	.	A	T	5060.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=644;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs114551256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114551256" target="_blank">rs114551256</a>;ExAC.Info.AC=1;ExAC.Info.AN=126696;ExAC.Info.AF=7.893e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.339T>A;snpeff.Gene_Name=RP11-656D10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-656D105" target="_blank">RP11-656D105</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453437;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Tca;snpeff.Amino_Acid_Change=p.Thr4Ser/c.10A>T;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=EXO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-656D105" target="_blank">RP11-656D105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372703;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372703;SAVANT_GENE=DEM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEM1" target="_blank">DEM1</a>;SAVANT_INFO=+/7.3kb/2/2.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.10A>T_p.Thr4Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEM1+c.10A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:40980226">View</a>	GT:AD:DP:GQ:PL:TP	0|0:175,0:175:99:0,526,5892:127	0|1:129,101:230:99:2549,0,3839:127	0|0:239,0:239:99:0,717,8349:127
1	41101572	.	A	G	11264.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2253835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2253835" target="_blank">rs2253835</a>;ExAC.Info.AC=93605;ExAC.Info.AN=126648;ExAC.Info.AF=0.739;ExAC.Info.AC_Het=22793;ExAC.Info.AC_Hom=35211;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.359+16T>C;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=RIMS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIMS3" target="_blank">RIMS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372684;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372684;SAVANT_GENE=RIMS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIMS3" target="_blank">RIMS3</a>;SAVANT_INFO=-/45.0kb/8/7.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.359+16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIMS3+c.359+16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41101572">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,53:54:99:1834,152,0:127	1|0:26,28:54:99:775,0,706:127	1|1:0,48:48:99:1640,144,0:127
1	41107360	.	T	C	19780.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs491619;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=491619" target="_blank">rs491619</a>;ExAC.Info.AC=91950;ExAC.Info.AN=126668;ExAC.Info.AF=0.726;ExAC.Info.AC_Het=23443;ExAC.Info.AC_Hom=33911;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.217+21A>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=RIMS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIMS3" target="_blank">RIMS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372684;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372684;SAVANT_GENE=RIMS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIMS3" target="_blank">RIMS3</a>;SAVANT_INFO=-/45.0kb/8/7.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.217+21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIMS3+c.217+21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41107360">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2991,261,0:127	1|0:48,53:101:99:1489,0,1393:127	1|1:0,77:77:99:2739,231,0:127
1	41107612	.	C	G	6119.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2076332;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076332" target="_blank">rs2076332</a>;ExAC.Info.AC=31304;ExAC.Info.AN=126586;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=22549;ExAC.Info.AC_Hom=3898;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.-15G>C;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=RIMS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIMS3" target="_blank">RIMS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372684;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372684;SAVANT_GENE=RIMS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIMS3" target="_blank">RIMS3</a>;SAVANT_INFO=-/45.0kb/8/7.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-15G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIMS3+c.-15G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41107612">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,41:77:99:1290,0,1160:127	1|0:75,39:114:99:1020,0,2378:127	0|0:75,0:75:99:0,226,2850:127
1	41107699	.	C	G	6839.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1534955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1534955" target="_blank">rs1534955</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-31-71G>C;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=RIMS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIMS3" target="_blank">RIMS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372684;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372684;SAVANT_GENE=RIMS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIMS3" target="_blank">RIMS3</a>;SAVANT_INFO=-/45.0kb/8/7.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-102G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIMS3+c.-102G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41107699">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,51:98:99:1454,0,1797:127	1|0:80,53:133:99:1441,0,2504:127	0|0:104,0:104:99:0,319,4722:127
1	41107706	.	C	T	10519.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11208588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11208588" target="_blank">rs11208588</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-31-78G>A;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=RIMS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIMS3" target="_blank">RIMS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372684;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372684;SAVANT_GENE=RIMS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIMS3" target="_blank">RIMS3</a>;SAVANT_INFO=-/45.0kb/8/7.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-109G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIMS3+c.-109G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41107706">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,45:95:99:1252,0,1948:127	0|0:130,0:130:99:0,391,4981:127	1|1:0,106:106:99:3418,318,0:127
1	41157700	.	C	T	1425.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=51;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs34027220;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34027220" target="_blank">rs34027220</a>;ExAC.Info.AC=53;ExAC.Info.AN=25330;ExAC.Info.AF=2.092e-03;ExAC.Info.AC_Het=10;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.39G>A;snpeff.Gene_Name=RP4-739H11.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-739H114" target="_blank">RP4-739H114</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606277;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NFYC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-739H114" target="_blank">RP4-739H114</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000425457;SAVANT_GENE=NFYC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFYC" target="_blank">NFYC</a>;SAVANT_INFO=+/79.4kb/11/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-46816C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFYC+c.-46816C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41157700">View</a>	GT:AD:DP:GQ:PL:TP	0|1:7,5:12:99:123,0,225:42	1|0:16,9:25:99:231,0,534:42	0|0:14,0:14:42:0,42,504:42
1	41204569	.	C	T	6157.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1057925;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057925" target="_blank">rs1057925</a>;ExAC.Info.AC=67111;ExAC.Info.AN=126704;ExAC.Info.AF=0.530;ExAC.Info.AC_Het=30866;ExAC.Info.AC_Hom=18112;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser18Ser/c.54C>T;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=NFYC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFYC" target="_blank">NFYC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308733;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000425457;SAVANT_GENE=NFYC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFYC" target="_blank">NFYC</a>;SAVANT_INFO=+/79.4kb/11/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.54C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFYC+c.54C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41204569">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,33:53:99:882,0,562:127	0|0:59,0:59:99:0,177,2195:127	1|1:0,62:62:99:1960,186,0:127
1	41224008	.	C	T	546.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs16827552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16827552" target="_blank">rs16827552</a>;ExAC.Info.AC=31336;ExAC.Info.AN=126058;ExAC.Info.AF=0.249;ExAC.Info.AC_Het=18875;ExAC.Info.AC_Hom=3696;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.561+42C>T;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=NFYC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFYC" target="_blank">NFYC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308733;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000425457;SAVANT_GENE=NFYC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFYC" target="_blank">NFYC</a>;SAVANT_INFO=+/79.4kb/11/1.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.561+42C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFYC+c.561+42C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41224008">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,478:41	0|1:13,11:24:99:292,0,361:41	0|0:19,0:19:57:0,57,573:41
1	41284366	.	G	C	20633.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_dominant_2A|_600101_(3);dbSNP139.ID=rs2361660;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2361660" target="_blank">rs2361660</a>;ExAC.Info.AC=74333;ExAC.Info.AN=120974;ExAC.Info.AF=0.614;ExAC.Info.AC_Het=16483;ExAC.Info.AC_Hom=15307;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000038246;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.708+14G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.709G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.709G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347132;SAVANT_GENE=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;SAVANT_INFO=+/56.4kb/14/4.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.708+14G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ4+c.708+14G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41284366">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000038246" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:3037,255,0:127	1|1:0,63:63:99:2275,189,0:127	1|1:0,75:75:99:2782,225,0:127
1	41285087	.	T	C	45807.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=541;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_dominant_2A|_600101_(3);dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs4660468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4660468" target="_blank">rs4660468</a>;ExAC.Info.AC=82527;ExAC.Info.AN=126694;ExAC.Info.AF=0.651;ExAC.Info.AC_Het=27424;ExAC.Info.AC_Hom=27489;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000038247;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.777T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala259Ala/c.777T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347132;SAVANT_GENE=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;SAVANT_INFO=+/56.4kb/14/4.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.777T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ4+c.777T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41285087">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000038247" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,168:168:99:5440,505,0:127	1|1:0,232:232:99:7661,696,0:127	1|1:0,141:141:99:4515,426,0:127
1	41288105	.	G	C	3330.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Deafness|_autosomal_dominant_2A|_600101_(3);dbSNP139.ID=rs148218398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148218398" target="_blank">rs148218398</a>;ExAC.Info.AC=8467;ExAC.Info.AN=124306;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=6064;ExAC.Info.AC_Hom=514;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1130+31G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1131G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1131G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1131G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1131G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1131G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1131G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1131G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1131G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347132;SAVANT_GENE=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;SAVANT_INFO=+/56.4kb/14/4.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1130+31G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ4+c.1130+31G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41288105">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,22:31:99:677,0,236:72	0|0:24,0:24:72:0,72,845:72	1|0:11,27:38:99:734,0,228:72
1	41289993	.	T	C	2930.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Deafness|_autosomal_dominant_2A|_600101_(3);dbSNP139.ID=rs3767940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3767940" target="_blank">rs3767940</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1292+63T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1293T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1293T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1293T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1293T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1293T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1293T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1293T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1293T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347132;SAVANT_GENE=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;SAVANT_INFO=+/56.4kb/14/4.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1292+63T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ4+c.1292+63T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41289993">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,24:46:99:703,0,576:127	0|0:66,0:66:99:0,198,2110:127	1|0:24,15:39:99:363,0,689:127
1	41296828	.	T	G	7691.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Deafness|_autosomal_dominant_2A|_600101_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34287852;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34287852" target="_blank">rs34287852</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Noise-induced_hearing_loss|_susceptibility_to|_association;hgmd_2014.2.OMIM_ID=603537;hgmd_2014.2.PubMed=16823764;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16823764" target="_blank">16823764</a>;ExAC.Info.AC=21975;ExAC.Info.AN=126382;ExAC.Info.AF=0.174;ExAC.Info.AC_Het=16191;ExAC.Info.AC_Hom=1875;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000038243;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365T>G;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365T>G;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365T>G;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365T>G;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365T>G;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365T>G;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365T>G;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365T>G;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caT/caG;snpeff.Amino_Acid_Change=p.His455Gln/c.1365T>G;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347132;SAVANT_GENE=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;SAVANT_INFO=+/56.4kb/14/4.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1365T>G_p.His455Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ4+c.1365T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41296828">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000038243" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:64,52:116:99:1545,0,1638:127	1|0:42,55:97:99:1679,0,1241:127	0|0:104,0:104:99:0,312,3576:127
1	41298652	.	T	C	48180.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=795;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Deafness|_autosomal_dominant_2A|_600101_(3);dbSNP139.ID=rs913378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=913378" target="_blank">rs913378</a>;ExAC.Info.AC=90295;ExAC.Info.AN=126672;ExAC.Info.AF=0.713;ExAC.Info.AC_Het=25023;ExAC.Info.AC_Hom=32426;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1514-34T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514T>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347132;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347132;SAVANT_GENE=KCNQ4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ4" target="_blank">KCNQ4</a>;SAVANT_INFO=+/56.4kb/14/4.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1514-34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ4+c.1514-34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41298652">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,268:268:99:8692,804,0:127	1|0:142,126:268:99:3666,0,4079:127	1|1:0,259:259:99:8990,778,0:127
1	41475085	.	A	G	5316.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12144160;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12144160" target="_blank">rs12144160</a>;ExAC.Info.AC=66930;ExAC.Info.AN=126220;ExAC.Info.AF=0.530;ExAC.Info.AC_Het=28620;ExAC.Info.AC_Hom=17515;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1547-32A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=CTPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTPS1" target="_blank">CTPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372616;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Glutamine_amidotransferase_type-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1547A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=CTPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTPS1" target="_blank">CTPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372616;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Glutamine_amidotransferase_type-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1547A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=CTPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTPS1" target="_blank">CTPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372616;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Glutamine_amidotransferase_type-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1547A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=CTPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTPS1" target="_blank">CTPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372616;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Glutamine_amidotransferase_type-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1547A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=CTPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTPS1" target="_blank">CTPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372616;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Glutamine_amidotransferase_type-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1547A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=CTPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTPS1" target="_blank">CTPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372616;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Glutamine_amidotransferase_type-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1547A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=CTPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTPS1" target="_blank">CTPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372616;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Glutamine_amidotransferase_type-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1547A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=CTPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTPS1" target="_blank">CTPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372616;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Glutamine_amidotransferase_type-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1547A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=CTPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTPS1" target="_blank">CTPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372616;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Glutamine_amidotransferase_type-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1547A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=CTPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTPS1" target="_blank">CTPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372616;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372621;SAVANT_GENE=CTPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTPS" target="_blank">CTPS</a>;SAVANT_INFO=+/33.2kb/19/3.2kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1547-32A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTPS+c.1547-32A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41475085">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,18:57:99:499,0,1152:127	1|1:0,52:52:99:1802,156,0:127	0|0:61,0:61:99:0,183,2127:127
1	41540853	.	A	T	27175.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2011981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2011981" target="_blank">rs2011981</a>;ExAC.Info.AC=105526;ExAC.Info.AN=126696;ExAC.Info.AF=0.833;ExAC.Info.AC_Het=16902;ExAC.Info.AC_Hom=44284;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.948+38T>A;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=SCMH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCMH1" target="_blank">SCMH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326197;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000402904;SAVANT_GENE=SCMH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCMH1" target="_blank">SCMH1</a>;SAVANT_INFO=-/134.2kb/16/3.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.948+38T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCMH1+c.948+38T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41540853">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:3482,238,0:127	1|1:0,108:108:99:4933,337,0:127	1|1:0,64:64:99:3082,211,0:127
1	41540861	.	T	C	29217.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2011982;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2011982" target="_blank">rs2011982</a>;ExAC.Info.AC=105583;ExAC.Info.AN=126696;ExAC.Info.AF=0.833;ExAC.Info.AC_Het=16854;ExAC.Info.AC_Hom=44346;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.948+30A>G;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=SCMH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCMH1" target="_blank">SCMH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326197;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000402904;SAVANT_GENE=SCMH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCMH1" target="_blank">SCMH1</a>;SAVANT_INFO=-/134.2kb/16/3.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.948+30A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCMH1+c.948+30A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41540861">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:3679,256,0:127	1|1:0,120:120:99:5267,364,0:127	1|1:0,75:75:99:3305,226,0:127
1	41618442	.	A	T	10232.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs213768;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=213768" target="_blank">rs213768</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-67-29T>A;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=SCMH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCMH1" target="_blank">SCMH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326197;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000402904;SAVANT_GENE=SCMH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCMH1" target="_blank">SCMH1</a>;SAVANT_INFO=-/134.2kb/16/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-96T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCMH1+c.-96T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41618442">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1091,90,0:116	1|1:0,39:39:99:1449,117,0:116	1|1:0,49:49:99:1702,147,0:116
1	41950312	.	T	C	6862.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2984691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2984691" target="_blank">rs2984691</a>;ExAC.Info.AC=70971;ExAC.Info.AN=81606;ExAC.Info.AF=0.870;ExAC.Info.AC_Het=2310;ExAC.Info.AC_Hom=9667;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=40;snpeff.Amino_Acid_Change=c.-40A>G;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=EDN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDN2" target="_blank">EDN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372587;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372587;SAVANT_GENE=EDN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDN2" target="_blank">EDN2</a>;SAVANT_INFO=-/5.9kb/5/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-40A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDN2+c.-40A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41950312">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:943,81,0:80	1|1:0,31:31:93:1148,93,0:80	1|1:0,27:27:81:977,81,0:80
1	41976217	.	G	A	3158.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72669005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72669005" target="_blank">rs72669005</a>;ExAC.Info.AC=7029;ExAC.Info.AN=124130;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=3996;ExAC.Info.AC_Hom=259;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro2376Ser/c.7126C>T;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.7126C>T_p.Pro2376Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.7126C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41976217">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,20:47:99:514,0,830:110	1|0:24,20:44:99:608,0,717:110	0|0:37,0:37:99:0,111,1398:110
1	41976328	.	T	C	4772.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=50;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9439043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9439043" target="_blank">rs9439043</a>;ExAC.Info.AC=91430;ExAC.Info.AN=93162;ExAC.Info.AF=0.981;ExAC.Info.AC_Het=191;ExAC.Info.AC_Hom=9140;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr2339Ala/c.7015A>G;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.7015A>G_p.Thr2339Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.7015A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41976328">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,14:14:42:563,42,0:50	1|1:0,18:18:54:667,54,0:50	1|1:0,18:18:53:637,53,0:50
1	41976345	.	T	C	1634.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs140839222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140839222" target="_blank">rs140839222</a>;ExAC.Info.AC=2528;ExAC.Info.AN=113050;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=754;ExAC.Info.AC_Hom=32;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu2333Gly/c.6998A>G;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.6998A>G_p.Glu2333Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.6998A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41976345">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,9:17:99:319,0,243:57	1|0:10,11:21:99:351,0,320:57	0|0:19,0:19:57:0,57,687:57
1	41976529	.	C	T	6770.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=277;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11809423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11809423" target="_blank">rs11809423</a>;ExAC.Info.AC=7733;ExAC.Info.AN=126598;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=6857;ExAC.Info.AC_Hom=415;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly2272Arg/c.6814G>A;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.6814G>A_p.Gly2272Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.6814G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41976529">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,50:97:99:1361,0,1399:127	1|0:68,36:104:99:1081,0,1896:127	0|0:76,0:76:99:0,228,2734:127
1	41978566	.	T	G	6437.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=68;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2991344;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2991344" target="_blank">rs2991344</a>;ExAC.Info.AC=119845;ExAC.Info.AN=120122;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=82;ExAC.Info.AC_Hom=31737;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gCc;snpeff.Amino_Acid_Change=p.Asp2109Ala/c.6326A>C;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.6326A>C_p.Asp2109Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.6326A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41978566">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,22:22:66:770,66,0:65	1|1:0,23:23:69:861,69,0:65	1|1:0,23:23:69:803,69,0:65
1	41978825	.	C	G	23234.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2483689;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2483689" target="_blank">rs2483689</a>;ExAC.Info.AC=126461;ExAC.Info.AN=126642;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=169;ExAC.Info.AC_Hom=62598;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Cct;snpeff.Amino_Acid_Change=p.Ala2023Pro/c.6067G>C;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.6067G>C_p.Ala2023Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.6067G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41978825">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3333,279,0:127	1|1:0,105:105:99:3823,315,0:127	1|1:0,66:66:99:2533,198,0:127
1	41979156	.	A	G	4840.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs615177;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=615177" target="_blank">rs615177</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=83342;ExAC.Info.AN=126094;ExAC.Info.AF=0.661;ExAC.Info.AC_Het=25126;ExAC.Info.AC_Hom=27316;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala1912Ala/c.5736T>C;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.5736T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.5736T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41979156">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:784,60,0:60	1|0:19,11:30:99:363,0,561:60	1|0:23,20:43:99:593,0,646:60
1	41990461	.	G	A	3311.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35122733;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35122733" target="_blank">rs35122733</a>;ExAC.Info.AC=6435;ExAC.Info.AN=126702;ExAC.Info.AF=0.051;ExAC.Info.AC_Het=5983;ExAC.Info.AC_Hom=223;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His1776His/c.5328C>T;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.5328C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.5328C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:41990461">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,24:46:99:653,0,686:127	1|0:35,34:69:99:855,0,1114:127	0|0:43,0:43:99:0,129,1714:127
1	42045747	.	T	C	6114.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35730380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35730380" target="_blank">rs35730380</a>;ExAC.Info.AC=6324;ExAC.Info.AN=126704;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=5902;ExAC.Info.AC_Hom=211;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser1574Ser/c.4722A>G;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.4722A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.4722A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42045747">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,35:73:99:1047,0,1248:127	1|0:63,43:106:99:1123,0,2043:127	0|0:68,0:68:99:0,204,2459:127
1	42046812	.	C	T	14315.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2810565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2810565" target="_blank">rs2810565</a>;ExAC.Info.AC=123728;ExAC.Info.AN=124508;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=696;ExAC.Info.AC_Hom=57202;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln1219Gln/c.3657G>A;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3657G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.3657G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42046812">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1531,137,0:127	1|1:0,57:57:99:1994,170,0:127	1|1:0,68:68:99:2148,200,0:127
1	42047208	.	C	G	11051.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17363472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17363472" target="_blank">rs17363472</a>;ExAC.Info.AC=6777;ExAC.Info.AN=126660;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=6091;ExAC.Info.AC_Hom=244;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caC;snpeff.Amino_Acid_Change=p.Gln1087His/c.3261G>C;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3261G>C_p.Gln1087His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.3261G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42047208">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,62:112:99:1998,0,1375:127	1|0:78,83:161:99:2716,0,2509:127	0|0:108,0:108:99:0,324,4097:127
1	42048745	.	T	C	34116.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2810566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2810566" target="_blank">rs2810566</a>;ExAC.Info.AC=126313;ExAC.Info.AN=126704;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=381;ExAC.Info.AC_Hom=62956;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His575Arg/c.1724A>G;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1724A>G_p.His575Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.1724A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42048745">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,126:127:99:4120,341,0:127	1|1:0,154:154:99:5381,462,0:127	1|1:0,142:142:99:4826,426,0:127
1	42049032	.	G	A	16432.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2984694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2984694" target="_blank">rs2984694</a>;ExAC.Info.AC=125049;ExAC.Info.AN=126690;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1416;ExAC.Info.AC_Hom=61591;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser479Ser/c.1437C>T;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1437C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.1437C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42049032">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1791,150,0:127	1|1:0,77:77:99:2830,232,0:127	1|1:0,65:65:99:2434,196,0:127
1	42049140	.	C	G	24743.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2475842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2475842" target="_blank">rs2475842</a>;ExAC.Info.AC=125065;ExAC.Info.AN=126704;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1415;ExAC.Info.AC_Hom=61787;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu443Leu/c.1329G>C;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1329G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.1329G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42049140">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2510,210,0:127	1|1:0,111:111:99:4085,333,0:127	1|1:0,99:99:99:3573,298,0:127
1	42050366	.	C	T	6137.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2146315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2146315" target="_blank">rs2146315</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=34043;ExAC.Info.AN=126368;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=22930;ExAC.Info.AC_Hom=4654;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val35Ile/c.103G>A;snpeff.Amino_Acid_length=2406;snpeff.Gene_Name=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372583;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372583;SAVANT_GENE=HIVEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIVEP3" target="_blank">HIVEP3</a>;SAVANT_INFO=-/412.1kb/9/12.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.103G>A_p.Val35Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIVEP3+c.103G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42050366">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,36:76:99:966,0,1178:127	0|0:113,0:113:99:0,339,3975:127	1|0:38,31:69:99:934,0,1094:127
1	42619139	.	A	G	8852.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1047047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1047047" target="_blank">rs1047047</a>;ExAC.Info.AC=26514;ExAC.Info.AN=126688;ExAC.Info.AF=0.209;ExAC.Info.AC_Het=19677;ExAC.Info.AC_Hom=3267;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.18A>G;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=GUCA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GUCA2B" target="_blank">GUCA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372581;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala6Ala/c.18A>G;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=GUCA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GUCA2B" target="_blank">GUCA2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372581;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372581;SAVANT_GENE=GUCA2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GUCA2B" target="_blank">GUCA2B</a>;SAVANT_INFO=+/2.4kb/3/0.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.18A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GUCA2B+c.18A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42619139">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:770,69,0:101	1|1:0,50:50:99:1661,150,0:101	1|1:0,34:34:99:1107,102,0:101
1	42693597	.	A	G	44404.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=585;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs343376;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=343376" target="_blank">rs343376</a>;ExAC.Info.AC=101812;ExAC.Info.AN=126698;ExAC.Info.AF=0.804;ExAC.Info.AC_Het=19575;ExAC.Info.AC_Hom=41095;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val162Ala/c.485T>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=FOXJ3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXJ3" target="_blank">FOXJ3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361346;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372572;SAVANT_GENE=FOXJ3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXJ3" target="_blank">FOXJ3</a>;SAVANT_INFO=-/158.4kb/15/5.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.485T>C_p.Val162Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOXJ3+c.485T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42693597">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,155:155:99:4942,464,0:127	1|1:1,242:243:99:8060,690,0:127	1|1:0,187:187:99:6430,562,0:127
1	42898843	.	A	G	4714.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=465;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1034268;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1034268" target="_blank">rs1034268</a>;ExAC.Info.AC=84016;ExAC.Info.AN=126704;ExAC.Info.AF=0.663;ExAC.Info.AC_Het=27915;ExAC.Info.AC_Hom=28048;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttt/Ctt;snpeff.Amino_Acid_Change=p.Phe316Leu/c.946T>C;snpeff.Amino_Acid_length=365;snpeff.Gene_Name=ZMYND12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND12" target="_blank">ZMYND12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372565;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372565;SAVANT_GENE=ZMYND12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND12" target="_blank">ZMYND12</a>;SAVANT_INFO=-/25.9kb/8/1.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.946T>C_p.Phe316Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZMYND12+c.946T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42898843">View</a>	GT:AD:DP:GQ:PL:TP	0|0:146,0:146:99:0,439,4942:127	0|1:73,76:149:99:2376,0,2151:127	0|0:170,0:170:99:0,511,5881:127
1	42915753	.	T	C	3140.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11210647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11210647" target="_blank">rs11210647</a>;ExAC.Info.AC=49922;ExAC.Info.AN=126694;ExAC.Info.AF=0.394;ExAC.Info.AC_Het=28960;ExAC.Info.AC_Hom=10452;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111-23A>G;snpeff.Amino_Acid_length=365;snpeff.Gene_Name=ZMYND12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND12" target="_blank">ZMYND12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372565;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYND-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.111T>C;snpeff.Amino_Acid_length=365;snpeff.Gene_Name=ZMYND12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND12" target="_blank">ZMYND12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372565;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYND-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.111T>C;snpeff.Amino_Acid_length=365;snpeff.Gene_Name=ZMYND12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND12" target="_blank">ZMYND12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372565;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372565;SAVANT_GENE=ZMYND12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND12" target="_blank">ZMYND12</a>;SAVANT_INFO=-/25.9kb/8/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.111-23A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZMYND12+c.111-23A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42915753">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,345,3568:127	0|1:72,57:129:99:1589,0,1941:127	0|0:98,0:98:99:0,294,3198:127
1	42962800	.	A	T	3770.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3748841;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748841" target="_blank">rs3748841</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428554;SAVANT_GENE=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;SAVANT_INFO=+/190.8kb/23/3.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-39356A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC30+c.-39356A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42962800">View</a>	GT:AD:DP:GQ:PL:TP	0|0:144,0:144:99:0,433,4785:127	0|1:70,71:141:99:1904,0,1831:127	0|0:139,0:139:99:0,418,4640:127
1	42986956	.	T	C	770.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=49;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72659942;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72659942" target="_blank">rs72659942</a>;ExAC.Info.AC=451;ExAC.Info.AN=7254;ExAC.Info.AF=0.062;ExAC.Info.AC_Het=230;ExAC.Info.AC_Hom=27;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428554;SAVANT_GENE=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;SAVANT_INFO=+/190.8kb/23/3.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-15200T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC30+c.-15200T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:42986956">View</a>	GT:AD:DP:GQ:PL:TP	0|0:12,0:12:36:0,36,393:35	0|1:10,13:23:99:404,0,283:35	0|0:14,0:14:42:0,42,514:35
1	43021810	.	C	T	1692.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12038786;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12038786" target="_blank">rs12038786</a>;ExAC.Info.AC=49044;ExAC.Info.AN=126560;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=28304;ExAC.Info.AC_Hom=10037;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.426-17C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340612;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428554;SAVANT_GENE=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;SAVANT_INFO=+/190.8kb/23/3.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.426-17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC30+c.426-17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43021810">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2439:127	0|1:33,29:62:99:865,0,1064:127	0|0:74,0:74:99:0,222,2648:127
1	43030190	.	A	ACCTCAGGTGATCCACCCACCTCGG	35.74	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=33;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.676-1776_676-1775insCCTCAGGTGATCCACCCACCTCGG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340612;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.676_677insCCTCAGGTGATCCACCCACCTCGG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340612;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.676_677insCCTCAGGTGATCCACCCACCTCGG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340612;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.676_677insCCTCAGGTGATCCACCCACCTCGG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340612;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.676_677insCCTCAGGTGATCCACCCACCTCGG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340612;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.676_677insCCTCAGGTGATCCACCCACCTCGG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340612;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.676_677insCCTCAGGTGATCCACCCACCTCGG;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340612;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000428554;SAVANT_GENE=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;SAVANT_INFO=+/190.8kb/23/3.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.676-1773_676-1772insAGGTGATCCACCCACCTCGGCCTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC30+c.676-1773_676-1772insAGGTGATCCACCCACCTCGGCCTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43030190">View</a>	GT:AD:DP:GQ:PL:TP	0|0:8,0:8:24:0,24,401:22	0|1:14,2:16:41:41,0,602:22	0|0:9,0:9:28:0,28,456:22
1	43076844	.	G	A	1726.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72661317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72661317" target="_blank">rs72661317</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1496+83G>A;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340612;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428554;SAVANT_GENE=CCDC30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC30" target="_blank">CCDC30</a>;SAVANT_INFO=+/190.8kb/23/3.6kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1496+83G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC30+c.1496+83G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43076844">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1825:127	0|1:49,29:78:99:882,0,1559:127	0|0:70,0:70:99:0,211,2686:127
1	43124859	.	C	T	3238.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3738494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738494" target="_blank">rs3738494</a>;ExAC.Info.AC=78340;ExAC.Info.AN=126698;ExAC.Info.AF=0.618;ExAC.Info.AC_Het=29294;ExAC.Info.AC_Hom=24470;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.132-40C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PPIase_cyclophilin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PPIase_cyclophilin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PPIase_cyclophilin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PPIase_cyclophilin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PPIase_cyclophilin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PPIase_cyclophilin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PPIase_cyclophilin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PPIase_cyclophilin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PPIase_cyclophilin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132C>T;snpeff.Amino_Acid_length=177;snpeff.Gene_Name=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304979;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304979;SAVANT_GENE=PPIH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPIH" target="_blank">PPIH</a>;SAVANT_INFO=+/18.3kb/10/0.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.132-40C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPIH+c.132-40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43124859">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,355,4170:127	0|1:72,61:133:99:1638,0,2169:127	0|0:109,0:109:99:0,328,3912:127
1	43201534	.	G	A	1356.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hypomagnesemia_5|_renal|_with_ocular_involvement|_248190_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4660658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4660658" target="_blank">rs4660658</a>;ExAC.Info.AC=16892;ExAC.Info.AN=121132;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=7262;ExAC.Info.AC_Hom=800;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.626+15C>T;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CLDN19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLDN19" target="_blank">CLDN19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296387;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.627G>A;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CLDN19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLDN19" target="_blank">CLDN19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296387;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.627G>A;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CLDN19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLDN19" target="_blank">CLDN19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296387;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296387;SAVANT_GENE=CLDN19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLDN19" target="_blank">CLDN19</a>;SAVANT_INFO=-/7.2kb/5/2.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.626+15C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLDN19+c.626+15C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43201534">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,1040:86	0|1:18,23:41:99:697,0,589:86	0|0:40,0:40:99:0,120,1374:86
1	43201614	.	C	T	1582.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hypomagnesemia_5|_renal|_with_ocular_involvement|_248190_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9660973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9660973" target="_blank">rs9660973</a>;ExAC.Info.AC=4333;ExAC.Info.AN=124458;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=2537;ExAC.Info.AC_Hom=68;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561C>T;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CLDN19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLDN19" target="_blank">CLDN19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296387;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561C>T;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CLDN19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLDN19" target="_blank">CLDN19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296387;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro187Pro/c.561G>A;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CLDN19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLDN19" target="_blank">CLDN19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000296387;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296387;SAVANT_GENE=CLDN19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLDN19" target="_blank">CLDN19</a>;SAVANT_INFO=-/7.2kb/5/2.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.561G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLDN19+c.561G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43201614">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1136:107	0|1:19,30:49:99:810,0,527:107	0|0:42,0:42:99:0,126,1376:107
1	43212431	.	A	G	35832.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Osteogenesis_imperfecta|_type_VIII|_610915_(3);dbSNP139.ID=rs4660662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4660662" target="_blank">rs4660662</a>;ExAC.Info.AC=105060;ExAC.Info.AN=105128;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=16594;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=152;snpeff.Amino_Acid_Change=c.*152T>C;snpeff.Amino_Acid_length=804;snpeff.Gene_Name=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236040;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296388;SAVANT_GENE=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;SAVANT_INFO=-/20.6kb/15/2.6kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2148T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPRE1+c.2148T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43212431">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,127:127:99:4267,380,0:127	1|1:0,166:166:99:6001,498,0:127	1|1:0,143:143:99:5189,429,0:127
1	43212926	.	G	A	3016.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Osteogenesis_imperfecta|_type_VIII|_610915_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs67014447;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67014447" target="_blank">rs67014447</a>;ExAC.Info.AC=5915;ExAC.Info.AN=126640;ExAC.Info.AF=0.047;ExAC.Info.AC_Het=5523;ExAC.Info.AC_Hom=193;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala691Val/c.2072C>T;snpeff.Amino_Acid_length=804;snpeff.Gene_Name=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236040;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296388;SAVANT_GENE=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;SAVANT_INFO=-/20.6kb/15/2.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2055+17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPRE1+c.2055+17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43212926">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,3287:127	0|1:48,52:100:99:1527,0,1505:127	0|0:69,0:69:99:0,207,2549:127
1	43213499	.	C	T	2304.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Osteogenesis_imperfecta|_type_VIII|_610915_(3);dbSNP139.ID=rs3738499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738499" target="_blank">rs3738499</a>;ExAC.Info.AC=75546;ExAC.Info.AN=126704;ExAC.Info.AF=0.596;ExAC.Info.AC_Het=29538;ExAC.Info.AC_Hom=22970;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1839-30G>A;snpeff.Amino_Acid_length=804;snpeff.Gene_Name=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236040;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fe2OG_dioxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1839C>T;snpeff.Amino_Acid_length=804;snpeff.Gene_Name=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236040;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fe2OG_dioxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1839C>T;snpeff.Amino_Acid_length=804;snpeff.Gene_Name=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236040;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fe2OG_dioxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1839C>T;snpeff.Amino_Acid_length=804;snpeff.Gene_Name=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236040;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fe2OG_dioxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1839C>T;snpeff.Amino_Acid_length=804;snpeff.Gene_Name=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236040;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296388;SAVANT_GENE=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;SAVANT_INFO=-/20.6kb/15/2.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1839-30G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPRE1+c.1839-30G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43213499">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,6:15:99:150,0,325:125	0|0:42,0:42:99:0,126,1529:125	1|0:9,18:27:99:597,0,300:125
1	43223489	.	C	T	7416.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=697;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Osteogenesis_imperfecta|_type_VIII|_610915_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6700677;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6700677" target="_blank">rs6700677</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=5623;ExAC.Info.AN=126704;ExAC.Info.AF=0.044;ExAC.Info.AC_Het=5293;ExAC.Info.AC_Hom=165;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly349Arg/c.1045G>A;snpeff.Amino_Acid_length=804;snpeff.Gene_Name=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236040;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296388;SAVANT_GENE=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;SAVANT_INFO=-/20.6kb/15/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1045G>A_p.Gly349Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPRE1+c.1045G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43223489">View</a>	GT:AD:DP:GQ:PL:TP	0|0:242,0:242:99:0,727,8611:127	0|1:121,126:247:99:3727,0,3665:127	0|0:208,0:208:99:0,625,7423:127
1	43228189	.	T	A	8320.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Osteogenesis_imperfecta|_type_VIII|_610915_(3);dbSNP139.ID=rs2816593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2816593" target="_blank">rs2816593</a>;ExAC.Info.AC=124864;ExAC.Info.AN=126704;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1782;ExAC.Info.AC_Hom=61516;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.466-43A>T;snpeff.Amino_Acid_length=804;snpeff.Gene_Name=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236040;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466T>A;snpeff.Amino_Acid_length=804;snpeff.Gene_Name=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236040;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466T>A;snpeff.Amino_Acid_length=804;snpeff.Gene_Name=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236040;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000296388;SAVANT_GENE=LEPRE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPRE1" target="_blank">LEPRE1</a>;SAVANT_INFO=-/20.6kb/15/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.466-43A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPRE1+c.466-43A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43228189">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1344,126,0:125	1|1:0,51:51:99:1764,153,0:125	1|0:14,14:28:99:341,0,420:125
1	43296195	.	C	T	8125.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_group|_Scianna_system]|_111750_(3)|_[Blood_group|_Radin]|_111620_(3)|[Blood_group|_Scianna_system]|_111750_(3)|_[Blood_group|_Radin]|_111620_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs33953680;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33953680" target="_blank">rs33953680</a>;ExAC.Info.AC=30730;ExAC.Info.AN=126704;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=21917;ExAC.Info.AC_Hom=4396;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cat/Tat;snpeff.Amino_Acid_Change=p.His26Tyr/c.76C>T;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=ERMAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERMAP" target="_blank">ERMAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372517;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372517;SAVANT_GENE=ERMAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERMAP" target="_blank">ERMAP</a>;SAVANT_INFO=+/27.9kb/12/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.76C>T_p.His26Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERMAP+c.76C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43296195">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,66:121:99:1851,0,1660:127	0|0:166,0:166:99:0,498,5844:127	1|0:51,58:109:99:1640,0,1631:127
1	43300663	.	T	C	15272.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=[Blood_group|_Scianna_system]|_111750_(3)|_[Blood_group|_Radin]|_111620_(3)|[Blood_group|_Scianna_system]|_111750_(3)|_[Blood_group|_Radin]|_111620_(3);dbSNP139.ID=rs4660672;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4660672" target="_blank">rs4660672</a>;ExAC.Info.AC=84551;ExAC.Info.AN=126692;ExAC.Info.AF=0.667;ExAC.Info.AC_Het=26485;ExAC.Info.AC_Hom=28906;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-342M1.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342M13" target="_blank">RP11-342M13</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.434-46T>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=ERMAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342M13" target="_blank">RP11-342M13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372517;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372517;SAVANT_GENE=ERMAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERMAP" target="_blank">ERMAP</a>;SAVANT_INFO=+/27.9kb/12/3.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.434-46T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERMAP+c.434-46T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43300663">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2578,205,0:127	1|0:41,51:92:99:1526,0,1158:127	1|1:0,68:68:99:2448,204,0:127
1	43393245	.	G	GGGTGAGAAAT	16283.25	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=330;MQ=69.93;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=GLUT1_deficiency_syndrome_1|_606777_(3)|_GLUT1_deficiency_syndrome_2|_612126_(3)|_{Epilepsy|_idiopathic_generalized|_suscpetibility_to|_12}|_614847_(3)|_Dystonia_9|_601042_(3)|GLUT1_deficiency_syndrome_1|_606777_(3)|_GLUT1_deficiency_syndrome_2|_612126_(3)|_{Epilepsy|_idiopathic_generalized|_suscpetibility_to|_12}|_614847_(3)|_Dystonia_9|_601042_(3);dbSNP139.ID=rs11282849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11282849" target="_blank">rs11282849</a>;ExAC.Info.AC=65108;ExAC.Info.AN=126660;ExAC.Info.AF=0.514;ExAC.Info.AC_Het=31470;ExAC.Info.AC_Hom=16390;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1278+31_1278+30insATTTCTCACC;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1279_1280insGGTGAGAAAT;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1279_1280insGGTGAGAAAT;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000426263;SAVANT_GENE=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;SAVANT_INFO=-/33.0kb/10/2.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1278+30_1278+31insATTTCTCACC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC2A1+c.1278+30_1278+31insATTTCTCACC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43393245">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,41:95:99:1619,0,3008:127	0|0:135,0:135:99:0,408,8196:127	1|1:0,100:100:99:5000,342,0:127
1	43395635	.	C	T	2610.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=GLUT1_deficiency_syndrome_1|_606777_(3)|_GLUT1_deficiency_syndrome_2|_612126_(3)|_{Epilepsy|_idiopathic_generalized|_suscpetibility_to|_12}|_614847_(3)|_Dystonia_9|_601042_(3)|GLUT1_deficiency_syndrome_1|_606777_(3)|_GLUT1_deficiency_syndrome_2|_612126_(3)|_{Epilepsy|_idiopathic_generalized|_suscpetibility_to|_12}|_614847_(3)|_Dystonia_9|_601042_(3);dbSNP139.ID=rs2229682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229682" target="_blank">rs2229682</a>;ExAC.Info.AC=23095;ExAC.Info.AN=126704;ExAC.Info.AF=0.182;ExAC.Info.AC_Het=18376;ExAC.Info.AC_Hom=2352;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000081436;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588C>T;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588C>T;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro196Pro/c.588G>A;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426263;SAVANT_GENE=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;SAVANT_INFO=-/33.0kb/10/2.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.588G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC2A1+c.588G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43395635">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081436" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,2936:127	0|0:103,0:103:99:0,309,3522:127	0|1:24,45:69:99:1324,0,676:127
1	43396414	.	G	A	6730.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=638;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=GLUT1_deficiency_syndrome_1|_606777_(3)|_GLUT1_deficiency_syndrome_2|_612126_(3)|_{Epilepsy|_idiopathic_generalized|_suscpetibility_to|_12}|_614847_(3)|_Dystonia_9|_601042_(3)|GLUT1_deficiency_syndrome_1|_606777_(3)|_GLUT1_deficiency_syndrome_2|_612126_(3)|_{Epilepsy|_idiopathic_generalized|_suscpetibility_to|_12}|_614847_(3)|_Dystonia_9|_601042_(3);dbSNP139.ID=rs11537641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11537641" target="_blank">rs11537641</a>;ExAC.Info.AC=23818;ExAC.Info.AN=126684;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=18974;ExAC.Info.AC_Hom=2374;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000128103|RCV000081433;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399G>A;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399G>A;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys133Cys/c.399C>T;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426263;SAVANT_GENE=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;SAVANT_INFO=-/33.0kb/10/2.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.399C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC2A1+c.399C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43396414">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128103%20OR%20RCV000081433" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:198,0:198:99:0,595,6375:127	0|0:218,0:218:99:0,654,7184:127	0|1:104,118:222:99:3384,0,2898:127
1	43408966	.	G	A	3622.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=510;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=GLUT1_deficiency_syndrome_1|_606777_(3)|_GLUT1_deficiency_syndrome_2|_612126_(3)|_{Epilepsy|_idiopathic_generalized|_suscpetibility_to|_12}|_614847_(3)|_Dystonia_9|_601042_(3)|GLUT1_deficiency_syndrome_1|_606777_(3)|_GLUT1_deficiency_syndrome_2|_612126_(3)|_{Epilepsy|_idiopathic_generalized|_suscpetibility_to|_12}|_614847_(3)|_Dystonia_9|_601042_(3);dbSNP139.ID=rs1385129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1385129" target="_blank">rs1385129</a>;ExAC.Info.AC=30257;ExAC.Info.AN=126658;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=22673;ExAC.Info.AC_Hom=3555;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000081435;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.45G>A;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.45G>A;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.45G>A;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala15Ala/c.45C>T;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426263;SAVANT_GENE=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;SAVANT_INFO=-/33.0kb/10/2.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.45C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC2A1+c.45C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43408966">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081435" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:151,0:151:99:0,454,5266:127	0|0:211,0:211:99:0,634,7228:127	0|1:84,64:148:99:1830,0,2514:127
1	43418026	.	C	T	9973.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=GLUT1_deficiency_syndrome_1|_606777_(3)|_GLUT1_deficiency_syndrome_2|_612126_(3)|_{Epilepsy|_idiopathic_generalized|_suscpetibility_to|_12}|_614847_(3)|_Dystonia_9|_601042_(3)|GLUT1_deficiency_syndrome_1|_606777_(3)|_GLUT1_deficiency_syndrome_2|_612126_(3)|_{Epilepsy|_idiopathic_generalized|_suscpetibility_to|_12}|_614847_(3)|_Dystonia_9|_601042_(3);dbSNP139.ID=rs2297972;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297972" target="_blank">rs2297972</a>;ExAC.Info.AC=70939;ExAC.Info.AN=111816;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=9202;ExAC.Info.AC_Hom=10121;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.18+6279G>A;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.19C>T;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.19C>T;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.19C>T;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.19C>T;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426263;SAVANT_GENE=SLC2A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" target="_blank">SLC2A1</a>;SAVANT_INFO=-/33.0kb/10/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.18+6279G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC2A1+c.18+6279G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43418026">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1441,126,0:125	1|1:0,53:53:99:1745,159,0:125	1|0:21,16:37:99:488,0,660:125
1	43610910	.	T	G	3789.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs626842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=626842" target="_blank">rs626842</a>;ExAC.Info.AC=9569;ExAC.Info.AN=22240;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=4327;ExAC.Info.AC_Hom=2014;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FAM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM183A" target="_blank">FAM183A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409706;SAVANT_GENE=FAM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM183A" target="_blank">FAM183A</a>;SAVANT_INFO=+/12.0kb/7/1.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-2713T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM183A+c.-2713T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43610910">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,14:35:99:422,0,594:127	0/1:26,23:49:99:704,0,776:127	0/1:15,17:32:99:502,0,377:127
1	43611005	.	G	A	2793.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs627263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=627263" target="_blank">rs627263</a>;ExAC.Info.AC=4246;ExAC.Info.AN=23220;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=2745;ExAC.Info.AC_Hom=434;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FAM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM183A" target="_blank">FAM183A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409706;SAVANT_GENE=FAM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM183A" target="_blank">FAM183A</a>;SAVANT_INFO=+/12.0kb/7/1.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-2618G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM183A+c.-2618G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43611005">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,12:38:99:272,0,871:72	0/1:14,15:29:99:451,0,366:72	0/1:3,12:15:72:356,0,72:72
1	43613786	.	G	T	5356.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs519666;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=519666" target="_blank">rs519666</a>;ExAC.Info.AC=31230;ExAC.Info.AN=124818;ExAC.Info.AF=0.250;ExAC.Info.AC_Het=22271;ExAC.Info.AC_Hom=4383;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+31G>T;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=FAM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM183A" target="_blank">FAM183A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409396;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000409706;SAVANT_GENE=FAM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM183A" target="_blank">FAM183A</a>;SAVANT_INFO=+/12.0kb/7/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.133+31G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM183A+c.133+31G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43613786">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,22:41:99:622,0,660:127	0/1:31,30:61:99:886,0,1131:127	0/1:28,24:52:99:676,0,974:127
1	43618596	.	G	A	10848.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12074551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12074551" target="_blank">rs12074551</a>;ExAC.Info.AC=25400;ExAC.Info.AN=125174;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=18669;ExAC.Info.AC_Hom=2946;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu97Glu/c.291G>A;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=FAM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM183A" target="_blank">FAM183A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409396;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000409706;SAVANT_GENE=FAM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM183A" target="_blank">FAM183A</a>;SAVANT_INFO=+/12.0kb/7/1.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.291G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM183A+c.291G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43618596">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,47:102:99:1254,0,1613:127	0/1:57,76:133:99:2142,0,1631:127	0/1:48,40:88:99:1085,0,1547:127
1	43632536	.	C	T	14629.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=497;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7163" target="_blank">rs7163</a>;ExAC.Info.AC=26701;ExAC.Info.AN=126704;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20008;ExAC.Info.AC_Hom=3347;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg278His/c.833G>A;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431635;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431635;SAVANT_GENE=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;SAVANT_INFO=-/8.4kb/10/1.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.833G>A_p.Arg278His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBNA1BP2+c.833G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43632536">View</a>	GT:AD:DP:GQ:PL:TP	0/1:89,89:178:99:2273,0,2323:127	0/1:90,90:180:99:2234,0,2437:127	0/1:73,66:139:99:1623,0,2034:127
1	43632815	.	T	G	19509.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=425;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1749438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1749438" target="_blank">rs1749438</a>;ExAC.Info.AC=26692;ExAC.Info.AN=126704;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20015;ExAC.Info.AC_Hom=3332;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.778+16A>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431635;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431635;SAVANT_GENE=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;SAVANT_INFO=-/8.4kb/10/1.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.778+16A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBNA1BP2+c.778+16A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43632815">View</a>	GT:AD:DP:GQ:PL:TP	0/1:74,73:147:99:2839,0,3322:127	0/1:89,59:148:99:2245,0,4261:127	0/1:58,72:130:99:2937,0,2716:127
1	43632816	.	T	C	19509.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1782374;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1782374" target="_blank">rs1782374</a>;ExAC.Info.AC=26692;ExAC.Info.AN=126704;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20014;ExAC.Info.AC_Hom=3332;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.778+15A>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431635;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431635;SAVANT_GENE=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;SAVANT_INFO=-/8.4kb/10/1.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.778+15A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBNA1BP2+c.778+15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43632816">View</a>	GT:AD:DP:GQ:PL:TP	0/1:74,71:145:99:2839,0,3322:127	0/1:90,60:150:99:2245,0,4261:127	0/1:57,75:132:99:2937,0,2716:127
1	43634766	.	A	G	7262.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs55684025;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55684025" target="_blank">rs55684025</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.613-67T>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431635;SAVANT_GENE=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;SAVANT_INFO=-/8.4kb/10/1.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.613-67T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBNA1BP2+c.613-67T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43634766">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,38:82:99:1115,0,1261:127	1|0:57,51:108:99:1371,0,1695:127	0|0:88,0:88:99:0,265,3210:127
1	43636484	.	C	G	12879.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1049276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1049276" target="_blank">rs1049276</a>;ExAC.Info.AC=26711;ExAC.Info.AN=126704;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20010;ExAC.Info.AC_Hom=3351;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acC;snpeff.Amino_Acid_Change=p.Thr185Thr/c.555G>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431635;SAVANT_GENE=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;SAVANT_INFO=-/8.4kb/10/1.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.555G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBNA1BP2+c.555G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43636484">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,63:116:99:1733,0,1429:127	0/1:73,71:144:99:2207,0,2036:127	0/1:68,53:121:99:1448,0,1948:127
1	43637932	.	T	C	10836.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9519" target="_blank">rs9519</a>;ExAC.Info.AC=16266;ExAC.Info.AN=103438;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=4875;ExAC.Info.AC_Hom=785;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.142+19A>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431635;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=493;snpeff.Amino_Acid_Change=c.-212T>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431635;SAVANT_GENE=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;SAVANT_INFO=-/8.4kb/10/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.142+19A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBNA1BP2+c.142+19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43637932">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,55:103:99:1546,0,1337:127	0/1:67,58:125:99:1752,0,1981:127	0/1:48,50:98:99:1499,0,1296:127
1	43638410	.	G	C	7256.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1782386;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1782386" target="_blank">rs1782386</a>;ExAC.Info.AC=26753;ExAC.Info.AN=126702;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20033;ExAC.Info.AC_Hom=3348;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.-15G>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528956;SAVANT_GENE=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR65" target="_blank">WDR65</a>;SAVANT_INFO=+/38.5kb/11/3.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-15G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR65+c.-15G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43638410">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,31:78:99:937,0,1478:127	0/1:43,31:74:99:965,0,1444:127	0/1:33,39:72:99:1167,0,885:127
1	43638457	.	T	A	11700.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1782387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1782387" target="_blank">rs1782387</a>;ExAC.Info.AC=26751;ExAC.Info.AN=126704;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20033;ExAC.Info.AC_Hom=3355;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtA;snpeff.Amino_Acid_Change=p.Val11Val/c.33T>A;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528956;SAVANT_GENE=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR65" target="_blank">WDR65</a>;SAVANT_INFO=+/38.5kb/11/3.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.33T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR65+c.33T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43638457">View</a>	GT:AD:DP:GQ:PL:TP	0/1:88,59:147:99:1377,0,2428:127	0/1:87,60:147:99:1545,0,2465:127	0/1:63,70:133:99:1941,0,1827:127
1	43642988	.	G	T	2402.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=63;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12094101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12094101" target="_blank">rs12094101</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.158-4217G>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528956;SAVANT_GENE=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR65" target="_blank">WDR65</a>;SAVANT_INFO=+/38.5kb/11/3.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.158-4217G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR65+c.158-4217G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43642988">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,9:16:99:307,0,197:127	0/1:8,15:23:99:402,0,254:127	0/1:11,13:24:99:393,0,364:127
1	43649508	.	A	G	19105.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=620;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs663824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=663824" target="_blank">rs663824</a>;ExAC.Info.AC=56835;ExAC.Info.AN=126698;ExAC.Info.AF=0.449;ExAC.Info.AC_Het=29671;ExAC.Info.AC_Hom=13558;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn241Asp/c.721A>G;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528956;SAVANT_GENE=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR65" target="_blank">WDR65</a>;SAVANT_INFO=+/38.5kb/11/3.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.721A>G_p.Asn241Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR65+c.721A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43649508">View</a>	GT:AD:DP:GQ:PL:TP	0/1:97,83:180:99:2261,0,2836:127	0/1:123,121:244:99:3647,0,3490:127	0/1:106,90:196:99:2615,0,3081:127
1	43652369	.	T	C	35324.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=410;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6413971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6413971" target="_blank">rs6413971</a>;ExAC.Info.AC=126602;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=100;ExAC.Info.AC_Hom=63249;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.970-9T>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528956;SAVANT_GENE=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR65" target="_blank">WDR65</a>;SAVANT_INFO=+/38.5kb/11/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.970-9T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR65+c.970-9T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43652369">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,130:130:99:4677,391,0:127	1|1:0,151:151:99:5380,454,0:127	1|1:0,129:129:99:5113,388,0:127
1	43663376	.	A	G	59025.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=802;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs513009;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=513009" target="_blank">rs513009</a>;ExAC.Info.AC=105718;ExAC.Info.AN=126704;ExAC.Info.AF=0.834;ExAC.Info.AC_Het=15689;ExAC.Info.AC_Hom=45000;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1262+13A>G;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1263A>G;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1263A>G;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528956;SAVANT_GENE=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR65" target="_blank">WDR65</a>;SAVANT_INFO=+/38.5kb/11/3.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1262+13A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR65+c.1262+13A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43663376">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,280:280:99:9971,841,0:127	1|1:0,260:260:99:9412,782,0:127	1|1:0,262:262:99:9233,787,0:127
1	43664119	.	A	G	19838.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=726;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs603560;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=603560" target="_blank">rs603560</a>;ExAC.Info.AC=31898;ExAC.Info.AN=126690;ExAC.Info.AF=0.252;ExAC.Info.AC_Het=22857;ExAC.Info.AC_Hom=4338;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1263-33A>G;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1263A>G;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1263A>G;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528956;SAVANT_GENE=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR65" target="_blank">WDR65</a>;SAVANT_INFO=+/38.5kb/11/3.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1263-33A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR65+c.1263-33A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43664119">View</a>	GT:AD:DP:GQ:PL:TP	0/1:105,111:216:99:3296,0,3012:127	0/1:156,102:258:99:3110,0,4744:127	0/1:143,109:252:99:3097,0,4400:127
1	43664218	.	C	T	31804.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1221;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs603123;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=603123" target="_blank">rs603123</a>;ExAC.Info.AC=32035;ExAC.Info.AN=126700;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=23019;ExAC.Info.AC_Hom=4494;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1329C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His443His/c.1329C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528956;SAVANT_GENE=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR65" target="_blank">WDR65</a>;SAVANT_INFO=+/38.5kb/11/3.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1329C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR65+c.1329C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43664218">View</a>	GT:AD:DP:GQ:PL:TP	0/1:218,184:402:99:4658,0,6342:127	0/1:229,197:426:99:5603,0,7038:127	0/1:207,186:393:99:5030,0,6218:127
1	43664319	.	TA	T	14778.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=591;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10711519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10711519" target="_blank">rs10711519</a>;ExAC.Info.AC=32274;ExAC.Info.AN=126684;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=24060;ExAC.Info.AC_Hom=4160;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1428+3delA;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429delA;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429delA;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429delA;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000528956;SAVANT_GENE=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR65" target="_blank">WDR65</a>;SAVANT_INFO=+/38.5kb/11/3.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1428+12delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR65+c.1428+12delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43664319">View</a>	GT:AD:DP:GQ:PL:TP	0/1:93,88:181:99:1916,0,2113:127	0/1:86,125:211:99:2879,0,1818:127	0/1:93,106:199:99:2369,0,2053:127
1	43672636	.	T	G	15950.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=494;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11210812;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11210812" target="_blank">rs11210812</a>;ExAC.Info.AC=67459;ExAC.Info.AN=126406;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=29270;ExAC.Info.AC_Hom=18636;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1755+33T>G;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1756T>G;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1756T>G;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528956;SAVANT_GENE=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR65" target="_blank">WDR65</a>;SAVANT_INFO=+/38.5kb/11/3.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1755+33T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR65+c.1755+33T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43672636">View</a>	GT:AD:DP:GQ:PL:TP	0/1:83,83:166:99:2401,0,2425:127	0/1:82,88:170:99:2667,0,2636:127	0/1:73,85:158:99:2681,0,2300:127
1	43675467	.	G	A	26526.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2453412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2453412" target="_blank">rs2453412</a>;ExAC.Info.AC=100283;ExAC.Info.AN=126704;ExAC.Info.AF=0.791;ExAC.Info.AC_Het=19127;ExAC.Info.AC_Hom=40564;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser603Ser/c.1809G>A;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528956;SAVANT_GENE=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR65" target="_blank">WDR65</a>;SAVANT_INFO=+/38.5kb/11/3.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1809G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR65+c.1809G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43675467">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3534,318,0:127	1|1:0,145:145:99:4930,436,0:127	1|1:0,100:100:99:3440,300,0:127
1	43680855	.	G	A	26759.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4233492;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4233492" target="_blank">rs4233492</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1930-71G>A;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930G>A;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930G>A;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBNA1BP2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43680855">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3901,318,0:127	1|1:0,137:137:99:4955,411,0:127	1|1:0,87:87:99:3235,260,0:127
1	43688077	.	A	C	19445.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=746;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11210815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11210815" target="_blank">rs11210815</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2532+111A>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2533A>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2533A>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2533A>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2533A>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2533A>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2533A>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2533A>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2533A>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2533A>C;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBNA1BP2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43688077">View</a>	GT:AD:DP:GQ:PL:TP	0/1:116,116:232:99:3136,0,3295:127	0/1:150,142:292:99:3843,0,4405:127	0/1:133,89:222:99:2412,0,4132:127
1	43699935	.	C	T	17099.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2477561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2477561" target="_blank">rs2477561</a>;ExAC.Info.AC=23117;ExAC.Info.AN=23164;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=14;ExAC.Info.AC_Hom=8585;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3127-15C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3127C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3127C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3127C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3127C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3127C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3127C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3127C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3127C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3127C>T;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBNA1BP2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43699935">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2338,225,0:127	1|1:1,81:82:99:2838,236,0:127	1|1:0,64:64:99:2224,192,0:127
1	43700140	.	A	G	31795.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2483688;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2483688" target="_blank">rs2483688</a>;ExAC.Info.AC=17191;ExAC.Info.AN=21702;ExAC.Info.AF=0.792;ExAC.Info.AC_Het=2099;ExAC.Info.AC_Hom=5317;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EBNA1BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3262-26A>G;snpeff.Amino_Acid_length=1250;snpeff.Gene_Name=WDR65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372492;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBNA1BP2" target="_blank">EBNA1BP2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBNA1BP2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43700140">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:4168,378,0:127	1|1:0,127:127:99:4682,381,0:127	1|1:0,125:125:99:4496,376,0:127
1	43771016	.	TA	T	10128.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=240;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3831248;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3831248" target="_blank">rs3831248</a>;ExAC.Info.AC=83909;ExAC.Info.AN=125252;ExAC.Info.AF=0.670;ExAC.Info.AC_Het=19277;ExAC.Info.AC_Hom=20973;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.484+3delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485delA;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000372476;SAVANT_GENE=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;SAVANT_INFO=+/22.1kb/23/3.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.484+5delA;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIE1+c.484+5delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43771016">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,37:74:99:1087,0,1083:127	1|1:0,93:93:99:3289,280,0:127	0|0:73,0:73:99:0,220,2596:127
1	43779564	.	T	C	8434.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3120276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3120276" target="_blank">rs3120276</a>;ExAC.Info.AC=88493;ExAC.Info.AN=126704;ExAC.Info.AF=0.698;ExAC.Info.AC_Het=25222;ExAC.Info.AC_Hom=31607;snpeff.Effect=TF_binding_site_variant[MA0115.1:RNR1H2];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0065.1:PPARG];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2334T>C;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala778Ala/c.2334T>C;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372476;SAVANT_GENE=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;SAVANT_INFO=+/22.1kb/23/3.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2334T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIE1+c.2334T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43779564">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,36:75:99:1115,0,1022:127	1|1:0,77:77:99:2793,231,0:127	0|0:64,1:65:99:0,185,2160:127
1	43784956	.	A	G	5493.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1199039;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1199039" target="_blank">rs1199039</a>;ExAC.Info.AC=39521;ExAC.Info.AN=126704;ExAC.Info.AF=0.312;ExAC.Info.AC_Het=26059;ExAC.Info.AC_Hom=6729;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu991Leu/c.2973A>G;snpeff.Amino_Acid_length=1138;snpeff.Gene_Name=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372476;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372476;SAVANT_GENE=TIE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIE1" target="_blank">TIE1</a>;SAVANT_INFO=+/22.1kb/23/3.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2973A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIE1+c.2973A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43784956">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,22:49:99:697,0,742:84	0|0:72,0:72:99:0,216,2486:84	1|1:1,39:40:84:1467,84,0:84
1	43812075	.	G	A	10518.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Thrombocytopenia|_congenital_amegakaryocytic|_604498_(3)|_Thrombocythemia_2|_601977_(3)|_Myelofibrosis_with_myeloid_metaplasia|_somatic|_254450_(3);dbSNP139.ID=rs1760670;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1760670" target="_blank">rs1760670</a>;ExAC.Info.AC=37661;ExAC.Info.AN=126678;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=24497;ExAC.Info.AC_Hom=5964;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.981-41G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981G>A;snpeff.Amino_Acid_length=635;snpeff.Gene_Name=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372470;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372470;SAVANT_GENE=MPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPL" target="_blank">MPL</a>;SAVANT_INFO=+/15.0kb/12/1.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.981-41G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MPL+c.981-41G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43812075">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,47:90:99:1291,0,1223:127	0|0:123,0:123:99:0,370,4536:127	1|1:0,107:107:99:3650,322,0:127
1	43825644	.	T	C	4411.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs839763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=839763" target="_blank">rs839763</a>;ExAC.Info.AC=38931;ExAC.Info.AN=126702;ExAC.Info.AF=0.307;ExAC.Info.AC_Het=25722;ExAC.Info.AC_Hom=6597;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr144Tyr/c.432T>C;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310955;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372462;SAVANT_GENE=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;SAVANT_INFO=+/4.2kb/10/1.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.432T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC20+c.432T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43825644">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,16:32:99:517,0,480:83	0|0:42,0:42:99:0,126,1593:83	1|1:0,28:28:84:1115,84,0:83
1	43826099	.	A	G	3918.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2069385;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2069385" target="_blank">rs2069385</a>;ExAC.Info.AC=6248;ExAC.Info.AN=126700;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5861;ExAC.Info.AC_Hom=190;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.753+39A>G;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310955;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.754A>G;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310955;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.754A>G;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310955;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.754A>G;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310955;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.754A>G;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310955;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372462;SAVANT_GENE=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;SAVANT_INFO=+/4.2kb/10/1.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.753+39A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC20+c.753+39A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43826099">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,270,2949:127	0|1:86,69:155:99:1978,0,2435:127	0|0:99,0:99:99:0,297,3313:127
1	43826312	.	C	A	19055.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=680;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs710251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=710251" target="_blank">rs710251</a>;ExAC.Info.AC=78837;ExAC.Info.AN=126688;ExAC.Info.AF=0.622;ExAC.Info.AC_Het=29235;ExAC.Info.AC_Hom=24616;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.848+48C>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310955;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.849C>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310955;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.849C>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310955;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.849C>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310955;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.849C>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310955;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372462;SAVANT_GENE=CDC20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC20" target="_blank">CDC20</a>;SAVANT_INFO=+/4.2kb/10/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.848+48C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC20+c.848+48C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43826312">View</a>	GT:AD:DP:GQ:PL:TP	1|0:103,73:176:99:1807,0,2769:127	0|0:287,0:287:99:0,862,9833:127	1|1:1,216:217:99:6683,640,0:127
1	43831210	.	A	G	4134.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=460;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72671106;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72671106" target="_blank">rs72671106</a>;ExAC.Info.AC=1124;ExAC.Info.AN=126704;ExAC.Info.AF=8.871e-03;ExAC.Info.AC_Het=1108;ExAC.Info.AC_Hom=8;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.46+25T>C;snpeff.Amino_Acid_length=279;snpeff.Gene_Name=ELOVL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELOVL1" target="_blank">ELOVL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372458;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372458;SAVANT_GENE=ELOVL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELOVL1" target="_blank">ELOVL1</a>;SAVANT_INFO=-/4.6kb/8/1.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.46+25T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELOVL1+c.46+25T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43831210">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,411,4420:127	0|1:89,75:164:99:2086,0,2558:127	0|0:159,0:159:99:0,477,5227:127
1	43855546	.	A	G	9729.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs839752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=839752" target="_blank">rs839752</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0062.1:Gabp];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0062.2:Gabp];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=839752" target="_blank">rs839752</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43855546">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,56:94:99:1662,0,1012:127	0|0:105,0:105:99:0,316,3792:127	1|1:0,67:67:99:2285,201,0:127
1	43855578	.	G	C	8485.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs839753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=839753" target="_blank">rs839753</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310739;SAVANT_GENE=C1orf84;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf84" target="_blank">C1orf84</a>;SAVANT_INFO=+/17.0kb/5/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-62G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf84+c.-62G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43855578">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,38:72:99:1187,0,986:127	0|0:97,0:97:99:0,291,3410:127	1|1:0,64:64:99:2278,192,0:127
1	43869235	.	G	C	3075.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=74;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs710249;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=710249" target="_blank">rs710249</a>;ExAC.Info.AC=42950;ExAC.Info.AN=126662;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=26603;ExAC.Info.AC_Hom=8007;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.154-37G>C;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310739;SAVANT_GENE=C1orf84;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf84" target="_blank">C1orf84</a>;SAVANT_INFO=+/17.0kb/5/1.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.154-37G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf84+c.154-37G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43869235">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,6:18:99:150,0,415:80	0|0:27,0:27:81:0,81,944:80	1|1:0,29:29:87:1044,87,0:80
1	43886494	.	C	T	14846.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2782643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2782643" target="_blank">rs2782643</a>;ExAC.Info.AC=37413;ExAC.Info.AN=118276;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=23196;ExAC.Info.AC_Hom=6864;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro446Ser/c.1336C>T;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SZT2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43886494">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,86:152:99:2278,0,1773:127	0|0:150,0:150:99:0,450,5383:127	1|1:0,116:116:99:4131,349,0:127
1	43888348	.	C	G	1490.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=49;MQ=70.09;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs77379551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77379551" target="_blank">rs77379551</a>;ExAC.Info.AC=467;ExAC.Info.AN=39678;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=100;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1922+45C>G;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SZT2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43888348">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,5:16:99:138,0,345:38	1|0:3,17:20:54:519,0,54:38	0|0:13,0:13:39:0,39,498:38
1	43892189	.	G	A	18888.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2782646;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2782646" target="_blank">rs2782646</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3044-197G>A;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372442;SAVANT_GENE=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;SAVANT_INFO=+/29.5kb/57/10.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.518-197G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SZT2+c.518-197G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43892189">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,71:147:99:1966,0,2291:127	0|0:219,0:219:99:0,658,7267:127	1|1:0,159:159:99:5518,477,0:127
1	43905286	.	C	T	2994.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72671125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72671125" target="_blank">rs72671125</a>;ExAC.Info.AC=2641;ExAC.Info.AN=126702;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2536;ExAC.Info.AC_Hom=52;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys2239Cys/c.6717C>T;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372442;SAVANT_GENE=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;SAVANT_INFO=+/29.5kb/57/10.2kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.4191C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SZT2+c.4191C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43905286">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,376,4754:127	0|0:154,0:154:99:0,463,5671:127	0|1:62,55:117:99:1516,0,1983:127
1	43906896	.	A	G	3444.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2027130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2027130" target="_blank">rs2027130</a>;ExAC.Info.AC=40414;ExAC.Info.AN=126702;ExAC.Info.AF=0.319;ExAC.Info.AC_Het=25351;ExAC.Info.AC_Hom=7518;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu2395Glu/c.7185A>G;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372442;SAVANT_GENE=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;SAVANT_INFO=+/29.5kb/57/10.2kb;SAVANT_LOC=Ex38;SAVANT_HGVS=c.4659A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SZT2+c.4659A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43906896">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,7:19:99:234,0,353:80	0|0:42,0:42:99:0,126,1384:80	1|1:0,27:27:81:967,81,0:80
1	43909265	.	T	C	12497.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2255632;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2255632" target="_blank">rs2255632</a>;ExAC.Info.AC=42066;ExAC.Info.AN=126702;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=26151;ExAC.Info.AC_Hom=7925;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8455-3T>C;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8455T>C;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372442;SAVANT_GENE=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;SAVANT_INFO=+/29.5kb/57/10.2kb;SAVANT_LOC=In46/47;SAVANT_HGVS=c.5929-3T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SZT2+c.5929-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43909265">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,43:94:99:1483,0,1350:127	0|0:122,0:122:99:0,367,4137:127	1|1:0,85:85:99:3293,256,0:127
1	43912590	.	A	G	3351.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2782650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2782650" target="_blank">rs2782650</a>;ExAC.Info.AC=40801;ExAC.Info.AN=126678;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=25387;ExAC.Info.AC_Hom=7146;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8902-36A>G;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372442;SAVANT_GENE=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;SAVANT_INFO=+/29.5kb/57/10.2kb;SAVANT_LOC=In50/51;SAVANT_HGVS=c.6376-36A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SZT2+c.6376-36A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43912590">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,11:26:99:284,0,489:92	0|0:41,0:41:99:0,123,1540:92	1|1:0,31:31:93:1109,93,0:92
1	43916642	.	T	C	11393.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs6954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6954" target="_blank">rs6954</a>;ExAC.Info.AC=69690;ExAC.Info.AN=120040;ExAC.Info.AF=0.581;ExAC.Info.AC_Het=27728;ExAC.Info.AC_Hom=20039;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=491;snpeff.Amino_Acid_Change=c.*491T>C;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=71;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372442;SAVANT_GENE=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;SAVANT_INFO=+/29.5kb/57/10.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*491T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SZT2+c.*491T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43916642">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,60:119:99:1784,0,1714:127	0|0:106,0:106:99:0,319,3787:127	1|1:0,87:87:99:3058,261,0:127
1	43917409	.	T	C	9625.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2251804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2251804" target="_blank">rs2251804</a>;ExAC.Info.AC=40974;ExAC.Info.AN=126704;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=25597;ExAC.Info.AC_Hom=7677;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.631-21A>G;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=HYI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYI" target="_blank">HYI</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372434;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1258;snpeff.Amino_Acid_Change=c.*1258T>C;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYI" target="_blank">HYI</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=71;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372442:ENST00000372425;SAVANT_GENE=SZT2:HYI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2:HYI" target="_blank">SZT2:HYI</a>;SAVANT_INFO=+/29.5kb/57/10.2kb:-/2.8kb/8/1.1kb;SAVANT_LOC=3UTR:In5/6;SAVANT_HGVS=c.*1258T>C:c.556-21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SZT2:HYI+c.*1258T>C:c.556-21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43917409">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,36:86:99:978,0,1450:127	0|0:111,0:111:99:0,334,3927:127	1|1:0,72:72:99:2673,216,0:127
1	43917637	.	G	A	10943.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2251802;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2251802" target="_blank">rs2251802</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1486;snpeff.Amino_Acid_Change=c.*1486G>A;snpeff.Amino_Acid_length=3375;snpeff.Gene_Name=SZT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000562955;snpeff.Exon_Rank=71;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp183Asp/c.549C>T;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=HYI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2" target="_blank">SZT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372434;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372442:ENST00000372425;SAVANT_GENE=SZT2:HYI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SZT2:HYI" target="_blank">SZT2:HYI</a>;SAVANT_INFO=+/29.5kb/57/10.2kb:-/2.8kb/8/1.1kb;SAVANT_LOC=3UTR:Ex4;SAVANT_HGVS=c.*1486G>A:c.474C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SZT2:HYI+c.*1486G>A:c.474C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43917637">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,47:84:99:1236,0,1140:127	0|0:125,0:125:99:0,375,4515:127	1|1:0,101:101:99:3331,303,0:127
1	43919413	.	A	G	1810.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=60;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6692611;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6692611" target="_blank">rs6692611</a>;ExAC.Info.AC=40810;ExAC.Info.AN=81378;ExAC.Info.AF=0.501;ExAC.Info.AC_Het=3413;ExAC.Info.AC_Hom=3202;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Ccc;snpeff.Amino_Acid_Change=p.Ser18Pro/c.52T>C;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=HYI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYI" target="_blank">HYI</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372434;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372425;SAVANT_GENE=HYI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYI" target="_blank">HYI</a>;SAVANT_INFO=-/2.8kb/8/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.52T>C_p.Ser18Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HYI+c.52T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43919413">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,3:14:74:74,0,392:39	0|0:33,0:33:99:0,99,1046:39	1|1:0,13:13:39:456,39,0:39
1	43998397	.	GT	G	6123.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11350891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11350891" target="_blank">rs11350891</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-126+1637delT;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359947;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000359947;SAVANT_GENE=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;SAVANT_INFO=+/92.8kb/34/7.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12343delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRF+c.-12343delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:43998397">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:932,93,0:77	1|1:0,26:26:78:781,78,0:77	1|1:0,37:37:99:1115,111,0:77
1	44071221	.	G	A	11812.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs631248;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=631248" target="_blank">rs631248</a>;ExAC.Info.AC=88282;ExAC.Info.AN=126694;ExAC.Info.AF=0.697;ExAC.Info.AC_Het=24850;ExAC.Info.AC_Hom=31602;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val1137Val/c.3411G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359947;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359947;SAVANT_GENE=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;SAVANT_INFO=+/92.8kb/34/7.7kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.3411G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRF+c.3411G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44071221">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1871,168,0:127	1|0:39,46:85:99:1251,0,1245:127	1|1:0,52:52:99:1732,156,0:127
1	44072420	.	A	G	9419.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs539096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=539096" target="_blank">rs539096</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3703-65A>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359947;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359947;SAVANT_GENE=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;SAVANT_INFO=+/92.8kb/34/7.7kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.3703-65A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRF+c.3703-65A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44072420">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1348,108,0:107	1|0:22,27:49:99:742,0,570:107	1|1:0,41:41:99:1510,123,0:107
1	44078384	.	T	C	18936.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs499257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=499257" target="_blank">rs499257</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3974-905T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359947;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359947;SAVANT_GENE=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;SAVANT_INFO=+/92.8kb/34/7.7kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3974-905T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRF+c.3974-905T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44078384">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3919,324,0:127	1|0:50,59:109:99:1767,0,1496:127	1|1:0,79:79:99:2857,237,0:127
1	44083507	.	T	C	20166.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs641365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=641365" target="_blank">rs641365</a>;ExAC.Info.AC=91166;ExAC.Info.AN=126704;ExAC.Info.AF=0.720;ExAC.Info.AC_Het=23889;ExAC.Info.AC_Hom=33519;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly1432Gly/c.4296T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359947;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359947;SAVANT_GENE=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;SAVANT_INFO=+/92.8kb/34/7.7kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.4296T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRF+c.4296T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44083507">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:3001,276,0:127	1|0:70,74:144:99:2002,0,1970:127	1|1:0,86:86:99:2936,258,0:127
1	44083519	.	G	A	17814.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs641351;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=641351" target="_blank">rs641351</a>;ExAC.Info.AC=91141;ExAC.Info.AN=126704;ExAC.Info.AF=0.719;ExAC.Info.AC_Het=23897;ExAC.Info.AC_Hom=33471;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg1436Arg/c.4308G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359947;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359947;SAVANT_GENE=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;SAVANT_INFO=+/92.8kb/34/7.7kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.4308G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRF+c.4308G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44083519">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:2771,258,0:127	1|0:66,63:129:99:1784,0,2082:127	1|1:0,79:79:99:2723,237,0:127
1	44084739	.	C	T	15852.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1143701;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1143701" target="_blank">rs1143701</a>;ExAC.Info.AC=91230;ExAC.Info.AN=126702;ExAC.Info.AF=0.720;ExAC.Info.AC_Het=23892;ExAC.Info.AC_Hom=33629;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg1504Arg/c.4512C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359947;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359947;SAVANT_GENE=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;SAVANT_INFO=+/92.8kb/34/7.7kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.4512C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRF+c.4512C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44084739">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2300,216,0:127	1|0:53,38:91:99:1068,0,1460:127	1|1:0,72:72:99:2447,215,0:127
1	44086080	.	T	C	18200.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs568639;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=568639" target="_blank">rs568639</a>;ExAC.Info.AC=90651;ExAC.Info.AN=126520;ExAC.Info.AF=0.716;ExAC.Info.AC_Het=22836;ExAC.Info.AC_Hom=32306;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5239-45T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359947;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359947;SAVANT_GENE=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;SAVANT_INFO=+/92.8kb/34/7.7kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.5239-45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRF+c.5239-45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44086080">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:3130,256,0:127	1|0:51,55:106:99:1544,0,1463:127	1|1:0,72:72:99:2652,216,0:127
1	44086831	.	C	T	27391.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs1143702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1143702" target="_blank">rs1143702</a>;ExAC.Info.AC=77684;ExAC.Info.AN=126690;ExAC.Info.AF=0.613;ExAC.Info.AC_Het=29009;ExAC.Info.AC_Hom=24193;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr1861Tyr/c.5583C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359947;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359947;SAVANT_GENE=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;SAVANT_INFO=+/92.8kb/34/7.7kb;SAVANT_LOC=Ex33;SAVANT_HGVS=c.5583C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRF+c.5583C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44086831">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,102:102:99:3446,306,0:127	1|0:67,73:140:99:1979,0,1935:127	1|1:0,129:129:99:4266,387,0:127
1	44087698	.	A	C	466.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=1628;ExAC.Info.AN=126668;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1534;ExAC.Info.AC_Hom=0;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=24;snpeff.Amino_Acid_Change=c.*24A>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359947;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359947;SAVANT_GENE=PTPRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRF" target="_blank">PTPRF</a>;SAVANT_INFO=+/92.8kb/34/7.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*24A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRF+c.*24A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44087698">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,8:33:32:32,0,658:30	0/1:41,25:66:99:154,0,1013:30	0/1:44,20:64:35:35,0,1149:30
1	44117006	.	G	T	20645.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs660899;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=660899" target="_blank">rs660899</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-40+1083G>T;snpeff.Amino_Acid_length=1064;snpeff.Gene_Name=KDM4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM4A" target="_blank">KDM4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372396;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372396;SAVANT_GENE=KDM4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM4A" target="_blank">KDM4A</a>;SAVANT_INFO=+/55.4kb/22/4.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-1841G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KDM4A+c.-1841G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44117006">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:3642,336,0:127	1|0:71,67:138:99:1784,0,2121:127	1|1:0,108:108:99:3691,325,0:127
1	44137257	.	C	A	19700.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs586339;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=586339" target="_blank">rs586339</a>;ExAC.Info.AC=89959;ExAC.Info.AN=126688;ExAC.Info.AF=0.710;ExAC.Info.AC_Het=24261;ExAC.Info.AC_Hom=32760;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gAa;snpeff.Amino_Acid_Change=p.Ala482Glu/c.1445C>A;snpeff.Amino_Acid_length=1064;snpeff.Gene_Name=KDM4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM4A" target="_blank">KDM4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372396;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372396;SAVANT_GENE=KDM4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM4A" target="_blank">KDM4A</a>;SAVANT_INFO=+/55.4kb/22/4.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1445C>A_p.Ala482Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KDM4A+c.1445C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44137257">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,99:99:99:3215,297,0:127	1|0:61,59:120:99:1701,0,1947:127	1|1:0,88:88:99:3115,265,0:127
1	44290530	.	A	G	18330.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=677;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Mental_retardation|_autosomal_recessive_12|_611090_(3)|_Epileptic_encephalopathy|_early_infantile|_15|_615006_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs37458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=37458" target="_blank">rs37458</a>;ExAC.Info.AC=33619;ExAC.Info.AN=123094;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=17798;ExAC.Info.AC_Hom=3957;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118418;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr128Ala/c.382A>G;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=ST3GAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST3GAL3" target="_blank">ST3GAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262915;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262915;SAVANT_GENE=ST3GAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST3GAL3" target="_blank">ST3GAL3</a>;SAVANT_INFO=+/223.6kb/13/2.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.382A>G_p.Thr128Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST3GAL3+c.382A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44290530">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118418" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:108,79:187:99:2068,0,2877:127	0/1:151,119:270:99:3163,0,4311:127	0/1:126,94:220:99:2468,0,3540:127
1	44323736	.	T	C	12335.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Mental_retardation|_autosomal_recessive_12|_611090_(3)|_Epileptic_encephalopathy|_early_infantile|_15|_615006_(3);dbSNP139.ID=rs2906465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2906465" target="_blank">rs2906465</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.509+19753T>C;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=ST3GAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST3GAL3" target="_blank">ST3GAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262915;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262915;SAVANT_GENE=ST3GAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST3GAL3" target="_blank">ST3GAL3</a>;SAVANT_INFO=+/223.6kb/13/2.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.509+19753T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST3GAL3+c.509+19753T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44323736">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1618,132,0:127	1|1:0,59:59:99:2140,177,0:127	1|1:0,45:45:99:1614,135,0:127
1	44344796	.	T	C	1848.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Mental_retardation|_autosomal_recessive_12|_611090_(3)|_Epileptic_encephalopathy|_early_infantile|_15|_615006_(3);dbSNP139.ID=rs2527777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2527777" target="_blank">rs2527777</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.510-15259T>C;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=ST3GAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST3GAL3" target="_blank">ST3GAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262915;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262915;SAVANT_GENE=ST3GAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST3GAL3" target="_blank">ST3GAL3</a>;SAVANT_INFO=+/223.6kb/13/2.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.510-15259T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST3GAL3+c.510-15259T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44344796">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1515:127	0|1:28,31:59:99:943,0,833:127	0|0:50,0:50:99:0,150,1732:127
1	44386615	.	A	G	21658.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Mental_retardation|_autosomal_recessive_12|_611090_(3)|_Epileptic_encephalopathy|_early_infantile|_15|_615006_(3);dbSNP139.ID=rs3120803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3120803" target="_blank">rs3120803</a>;ExAC.Info.AC=109798;ExAC.Info.AN=126122;ExAC.Info.AF=0.871;ExAC.Info.AC_Het=10263;ExAC.Info.AC_Hom=38148;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1245+15A>G;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=ST3GAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST3GAL3" target="_blank">ST3GAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262915;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262915;SAVANT_GENE=ST3GAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST3GAL3" target="_blank">ST3GAL3</a>;SAVANT_INFO=+/223.6kb/13/2.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1245+15A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST3GAL3+c.1245+15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44386615">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,105:105:99:3929,316,0:127	1|0:83,55:138:99:1689,0,2523:127	1|1:0,94:94:99:3691,283,0:127
1	44395786	.	C	T	20027.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Mental_retardation|_autosomal_recessive_12|_611090_(3)|_Epileptic_encephalopathy|_early_infantile|_15|_615006_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2108202;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2108202" target="_blank">rs2108202</a>;ExAC.Info.AC=84916;ExAC.Info.AN=126704;ExAC.Info.AF=0.670;ExAC.Info.AC_Het=24510;ExAC.Info.AC_Hom=30194;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1246-18C>T;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=ST3GAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST3GAL3" target="_blank">ST3GAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262915;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262915;SAVANT_GENE=ST3GAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST3GAL3" target="_blank">ST3GAL3</a>;SAVANT_INFO=+/223.6kb/13/2.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1246-18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST3GAL3+c.1246-18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44395786">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3469,310,0:127	1|0:61,59:120:99:1611,0,1966:127	1|1:0,109:109:99:3744,328,0:127
1	44401384	.	A	G	18563.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|T|T|D|T|T|T|T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2242637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2242637" target="_blank">rs2242637</a>;ExAC.Info.AC=111702;ExAC.Info.AN=126584;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=12326;ExAC.Info.AC_Hom=47673;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ARTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARTN" target="_blank">ARTN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000414809;SAVANT_GENE=ARTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARTN" target="_blank">ARTN</a>;SAVANT_INFO=+/3.9kb/5/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.56A>G_p.Gln19Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARTN+c.56A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44401384">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2555,234,0:127	1|0:51,62:113:99:1782,0,1527:127	1|1:0,84:84:99:2716,252,0:127
1	44415415	.	C	T	38357.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=601;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2240447;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2240447" target="_blank">rs2240447</a>;ExAC.Info.AC=85201;ExAC.Info.AN=126700;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=23869;ExAC.Info.AC_Hom=30619;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.411C>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp137Asp/c.411C>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372343;SAVANT_GENE=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;SAVANT_INFO=+/21.1kb/20/3.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.411C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPO13+c.411C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44415415">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,201:201:99:6683,603,0:127	1|0:106,109:215:99:3080,0,3171:127	1|1:0,185:185:99:6275,555,0:127
1	44426025	.	G	A	6070.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=111;MQ=69.75;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2301993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2301993" target="_blank">rs2301993</a>;ExAC.Info.AC=86224;ExAC.Info.AN=126702;ExAC.Info.AF=0.681;ExAC.Info.AC_Het=24596;ExAC.Info.AC_Hom=30803;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2109+24G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2110G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2110G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2110G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2110G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2110G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372343;SAVANT_GENE=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;SAVANT_INFO=+/21.1kb/20/3.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2109+24G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPO13+c.2109+24G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44426025">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1435,132,0:95	1|0:28,7:35:99:153,0,976:95	1|1:0,32:32:96:1075,96,0:95
1	44426948	.	G	A	21274.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2906596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2906596" target="_blank">rs2906596</a>;ExAC.Info.AC=112408;ExAC.Info.AN=126702;ExAC.Info.AF=0.887;ExAC.Info.AC_Het=12110;ExAC.Info.AC_Hom=50115;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2344+14G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2345G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2345G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2345G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372343;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372343;SAVANT_GENE=IPO13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO13" target="_blank">IPO13</a>;SAVANT_INFO=+/21.1kb/20/3.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2344+14G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPO13+c.2344+14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44426948">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3071,281,0:127	1|0:60,78:138:99:2308,0,1676:127	1|1:0,90:90:99:3221,270,0:127
1	44451115	.	A	G	642.17	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=16;MQ=71.76;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs78433362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78433362" target="_blank">rs78433362</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.950+43A>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=B4GALT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALT2" target="_blank">B4GALT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309519;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.951A>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=B4GALT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALT2" target="_blank">B4GALT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309519;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.951A>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=B4GALT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALT2" target="_blank">B4GALT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309519;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.951A>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=B4GALT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALT2" target="_blank">B4GALT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309519;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.951A>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=B4GALT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALT2" target="_blank">B4GALT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309519;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.951A>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=B4GALT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALT2" target="_blank">B4GALT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309519;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.951A>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=B4GALT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALT2" target="_blank">B4GALT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309519;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309519;SAVANT_GENE=B4GALT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALT2" target="_blank">B4GALT2</a>;SAVANT_INFO=+/10.5kb/7/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.950+43A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALT2+c.950+43A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44451115">View</a>	GT:AD:DP:GQ:PL:TP	1|0:0,3:3:1:115,9,0:11	0|0:8,0:8:24:0,24,285:11	1|1:0,5:5:15:166,15,0:11
1	44457305	.	G	A	8003.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs12403036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12403036" target="_blank">rs12403036</a>;ExAC.Info.AC=8936;ExAC.Info.AN=15356;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=2429;ExAC.Info.AC_Hom=2627;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SLC6A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=246;snpeff.Amino_Acid_Change=c.-146G>A;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=CCDC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372318;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372318;SAVANT_GENE=CCDC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC24" target="_blank">CCDC24</a>;SAVANT_INFO=+/4.9kb/9/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-246G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC24+c.-246G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44457305">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:995,84,0:83	1|0:14,23:37:99:641,0,418:83	1|1:0,32:32:96:1056,96,0:83
1	44460857	.	C	T	896.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41270403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270403" target="_blank">rs41270403</a>;ExAC.Info.AC=5967;ExAC.Info.AN=119676;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=2389;ExAC.Info.AC_Hom=110;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SLC6A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.552+23C>T;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=CCDC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372318;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553C>T;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=CCDC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372318;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553C>T;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=CCDC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372318;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553C>T;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=CCDC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372318;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372318;SAVANT_GENE=CCDC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC24" target="_blank">CCDC24</a>;SAVANT_INFO=+/4.9kb/9/1.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.552+23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC24+c.552+23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44460857">View</a>	GT:AD:DP:GQ:PL:TP	0|0:17,0:17:51:0,51,594:50	0|1:5,17:22:99:467,0,107:50	0|0:27,0:27:81:0,81,952:50
1	44466606	.	G	A	7050.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=680;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2248632;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2248632" target="_blank">rs2248632</a>;ExAC.Info.AC=13879;ExAC.Info.AN=126648;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=11755;ExAC.Info.AC_Hom=952;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1654+22C>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=SLC6A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360584;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360584;SAVANT_GENE=SLC6A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;SAVANT_INFO=-/19.8kb/14/2.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1654+22C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A9+c.1654+22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44466606">View</a>	GT:AD:DP:GQ:PL:TP	0|0:198,0:198:99:0,595,7111:127	0|1:131,124:255:99:3544,0,3822:127	0|0:226,1:227:99:0,643,8039:127
1	44468235	.	G	A	3844.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2248829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2248829" target="_blank">rs2248829</a>;ExAC.Info.AC=14297;ExAC.Info.AN=126704;ExAC.Info.AF=0.113;ExAC.Info.AC_Het=12172;ExAC.Info.AC_Hom=1060;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp342Asp/c.1026C>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=SLC6A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360584;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360584;SAVANT_GENE=SLC6A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;SAVANT_INFO=-/19.8kb/14/2.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1026C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A9+c.1026C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44468235">View</a>	GT:AD:DP:GQ:PL:TP	0|0:154,0:154:99:0,463,5240:127	0|1:68,68:136:99:1941,0,1977:127	0|0:150,0:150:99:0,451,5090:127
1	44475586	.	G	A	4146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1766967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1766967" target="_blank">rs1766967</a>;ExAC.Info.AC=13659;ExAC.Info.AN=126678;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=11617;ExAC.Info.AC_Hom=907;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.538+51C>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=SLC6A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360584;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360584;SAVANT_GENE=SLC6A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A9" target="_blank">SLC6A9</a>;SAVANT_INFO=-/19.8kb/14/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.538+51C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A9+c.538+51C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44475586">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,274,3460:127	0|1:50,67:117:99:2092,0,1466:127	0|0:107,0:107:99:0,322,3997:127
1	44595047	.	T	A	10320.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=521;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11210969;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11210969" target="_blank">rs11210969</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=33351;ExAC.Info.AN=125142;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=22707;ExAC.Info.AC_Hom=4485;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aAc;snpeff.Amino_Acid_Change=p.Ile35Asn/c.104T>A;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=KLF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLF17" target="_blank">KLF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372299;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372299;SAVANT_GENE=KLF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLF17" target="_blank">KLF17</a>;SAVANT_INFO=+/16.3kb/4/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.104T>A_p.Ile35Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLF17+c.104T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44595047">View</a>	GT:AD:DP:GQ:PL:TP	0|0:160,0:160:99:0,480,5035:127	0|1:108,102:210:99:2762,0,2948:127	0|1:70,81:151:99:2418,0,1785:127
1	44595113	.	G	C	24462.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=545;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2429051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2429051" target="_blank">rs2429051</a>;ExAC.Info.AC=76355;ExAC.Info.AN=126562;ExAC.Info.AF=0.603;ExAC.Info.AC_Het=27693;ExAC.Info.AC_Hom=23628;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aCc;snpeff.Amino_Acid_Change=p.Ser57Thr/c.170G>C;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=KLF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLF17" target="_blank">KLF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372299;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372299;SAVANT_GENE=KLF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLF17" target="_blank">KLF17</a>;SAVANT_INFO=+/16.3kb/4/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.170G>C_p.Ser57Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLF17+c.170G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44595113">View</a>	GT:AD:DP:GQ:PL:TP	1|0:90,86:176:99:2342,0,2408:127	0|1:117,86:203:99:2555,0,3680:127	1|1:0,166:166:99:5865,498,0:127
1	44595410	.	A	G	8303.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2485652;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2485652" target="_blank">rs2485652</a>;ExAC.Info.AC=41878;ExAC.Info.AN=126702;ExAC.Info.AF=0.331;ExAC.Info.AC_Het=27157;ExAC.Info.AC_Hom=7299;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn156Ser/c.467A>G;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=KLF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLF17" target="_blank">KLF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372299;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372299;SAVANT_GENE=KLF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLF17" target="_blank">KLF17</a>;SAVANT_INFO=+/16.3kb/4/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.467A>G_p.Asn156Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLF17+c.467A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44595410">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,49:96:99:1623,0,1401:127	0|0:147,0:147:99:0,442,5310:127	1|0:63,48:111:99:1470,0,1927:127
1	44595426	.	G	A	6976.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2429050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2429050" target="_blank">rs2429050</a>;ExAC.Info.AC=41843;ExAC.Info.AN=126700;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=27129;ExAC.Info.AC_Hom=7305;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser161Ser/c.483G>A;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=KLF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLF17" target="_blank">KLF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372299;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372299;SAVANT_GENE=KLF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLF17" target="_blank">KLF17</a>;SAVANT_INFO=+/16.3kb/4/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.483G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLF17+c.483G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44595426">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,41:88:99:1259,0,1373:127	0|0:146,0:146:99:0,438,5232:127	1|0:59,45:104:99:1296,0,1855:127
1	44596379	.	CCAA	C	18347.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=652;MQ=70.01;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs34057178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34057178" target="_blank">rs34057178</a>;ExAC.Info.AC=27519;ExAC.Info.AN=126704;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=20678;ExAC.Info.AC_Hom=3401;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gccaac/gcc;snpeff.Amino_Acid_Change=p.Ala374_Asn375del/c.1122_1124delCAA;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=KLF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLF17" target="_blank">KLF17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372299;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000372299;SAVANT_GENE=KLF17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLF17" target="_blank">KLF17</a>;SAVANT_INFO=+/16.3kb/4/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1131_1133delCAA_p.Asn378del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLF17+c.1131_1133delCAA+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44596379">View</a>	GT:AD:DP:GQ:PL:TP	0|1:108,97:205:99:3709,0,4212:127	1|0:124,106:230:99:4027,0,4823:127	0|0:217,0:217:99:0,651,9660:127
1	44679556	.	A	G	19554.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs803369;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=803369" target="_blank">rs803369</a>;ExAC.Info.AC=70595;ExAC.Info.AN=114596;ExAC.Info.AF=0.616;ExAC.Info.AC_Het=8137;ExAC.Info.AC_Hom=9186;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.105+26A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=DMAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMAP1" target="_blank">DMAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315913;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372289;SAVANT_GENE=DMAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMAP1" target="_blank">DMAP1</a>;SAVANT_INFO=+/7.2kb/10/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.105+26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMAP1+c.105+26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44679556">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,64:126:99:1908,0,1642:127	1|1:1,120:121:99:4298,326,0:127	0|1:50,51:101:99:1467,0,1315:127
1	44680719	.	G	C	10913.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4660780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4660780" target="_blank">rs4660780</a>;ExAC.Info.AC=12212;ExAC.Info.AN=80536;ExAC.Info.AF=0.152;ExAC.Info.AC_Het=3278;ExAC.Info.AC_Hom=790;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.393+149G>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=DMAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMAP1" target="_blank">DMAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315913;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372289;SAVANT_GENE=DMAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMAP1" target="_blank">DMAP1</a>;SAVANT_INFO=+/7.2kb/10/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.393+149G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMAP1+c.393+149G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44680719">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,63:141:99:1857,0,2494:127	1|0:74,80:154:99:2450,0,2344:127	0|0:127,0:127:99:0,381,4869:127
1	44685664	.	C	T	3994.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41270415;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270415" target="_blank">rs41270415</a>;ExAC.Info.AC=8842;ExAC.Info.AN=126646;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=7821;ExAC.Info.AC_Hom=360;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1052-25C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=DMAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMAP1" target="_blank">DMAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315913;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372289;SAVANT_GENE=DMAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMAP1" target="_blank">DMAP1</a>;SAVANT_INFO=+/7.2kb/10/1.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1052-25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMAP1+c.1052-25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44685664">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,28:47:99:735,0,446:127	1|0:28,26:54:99:768,0,913:127	0|0:57,0:57:99:0,171,1984:127
1	44686322	.	T	C	6002.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12419" target="_blank">rs12419</a>;ExAC.Info.AC=37546;ExAC.Info.AN=126700;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=25819;ExAC.Info.AC_Hom=5627;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=32;snpeff.Amino_Acid_Change=c.*32T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=DMAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMAP1" target="_blank">DMAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315913;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372289;SAVANT_GENE=DMAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMAP1" target="_blank">DMAP1</a>;SAVANT_INFO=+/7.2kb/10/1.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*32T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMAP1+c.*32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44686322">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,37:70:99:1053,0,940:127	1|0:52,39:91:99:1083,0,1561:127	0|0:72,0:72:99:0,216,2603:127
1	44686382	.	G	A	1066.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72686059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72686059" target="_blank">rs72686059</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72686059" target="_blank">rs72686059</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44686382">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1265:83	0|1:26,24:50:99:552,0,774:83	0|0:28,0:28:84:0,84,1145:83
1	44788398	.	A	T	9299.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs161721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=161721" target="_blank">rs161721</a>;ExAC.Info.AC=19185;ExAC.Info.AN=19604;ExAC.Info.AF=0.979;ExAC.Info.AC_Het=314;ExAC.Info.AC_Hom=8684;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.490-2982T>A;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=ERI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERI3" target="_blank">ERI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372257;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Exonuclease];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490A>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=ERI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERI3" target="_blank">ERI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372257;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Exonuclease];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490A>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=ERI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERI3" target="_blank">ERI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372257;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Exonuclease];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490A>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=ERI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERI3" target="_blank">ERI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372257;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Exonuclease];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490A>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=ERI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERI3" target="_blank">ERI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372257;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Exonuclease];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490A>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=ERI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERI3" target="_blank">ERI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372257;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Exonuclease];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490A>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=ERI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERI3" target="_blank">ERI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372257;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Exonuclease];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490A>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=ERI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERI3" target="_blank">ERI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372257;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372257;SAVANT_GENE=ERI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERI3" target="_blank">ERI3</a>;SAVANT_INFO=-/134.1kb/9/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.490-2982T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERI3+c.490-2982T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:44788398">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1430,120,0:98	1|1:0,38:38:99:1230,114,0:98	1|1:0,33:33:99:1182,99,0:98
1	45101206	.	TC	T	3571.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs138968266;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138968266" target="_blank">rs138968266</a>;ExAC.Info.AC=4595;ExAC.Info.AN=126698;ExAC.Info.AF=0.036;ExAC.Info.AC_Het=4107;ExAC.Info.AC_Hom=242;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TMEM53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM53" target="_blank">TMEM53</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.950-10delC;snpeff.Amino_Acid_length=566;snpeff.Gene_Name=RNF220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM53" target="_blank">TMEM53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000355387;SAVANT_GENE=RNF220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF220" target="_blank">RNF220</a>;SAVANT_INFO=+/246.5kb/15/3.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.950-7delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF220+c.950-7delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45101206">View</a>	GT:AD:DP:GQ:PL:TP	0|0:121,0:121:99:0,364,4071:127	0|1:71,65:136:99:1809,0,1966:127	0|0:140,0:140:99:0,421,4710:127
1	45162744	.	C	T	2978.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72671989;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72671989" target="_blank">rs72671989</a>;ExAC.Info.AC=36;ExAC.Info.AN=29424;ExAC.Info.AF=1.223e-03;ExAC.Info.AC_Het=36;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.207-30C>T;snpeff.Amino_Acid_length=440;snpeff.Gene_Name=C1orf228;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf228" target="_blank">C1orf228</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458657;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000458657;SAVANT_GENE=C1orf228;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf228" target="_blank">C1orf228</a>;SAVANT_INFO=+/50.9kb/13/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.207-30C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf228+c.207-30C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45162744">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,2994:127	0|1:55,55:110:99:1508,0,1571:127	0|0:75,0:75:99:0,225,2543:127
1	45169711	.	TA	T	284.53	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=120;MQ=70.06;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs374584525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374584525" target="_blank">rs374584525</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.640-49delA;snpeff.Amino_Acid_length=440;snpeff.Gene_Name=C1orf228;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf228" target="_blank">C1orf228</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458657;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000458657;SAVANT_GENE=C1orf228;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf228" target="_blank">C1orf228</a>;SAVANT_INFO=+/50.9kb/13/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.640-36delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf228+c.640-36delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45169711">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,5:36:26:26,0,586:13	0|0:38,5:43:13:0,13,821:13	1|0:30,11:41:99:117,0,647:13
1	45205598	.	T	C	7240.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3820586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820586" target="_blank">rs3820586</a>;ExAC.Info.AC=26839;ExAC.Info.AN=126704;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20123;ExAC.Info.AC_Hom=3356;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=7;snpeff.Amino_Acid_Change=c.-7T>C;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372224;SAVANT_GENE=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;SAVANT_INFO=+/27.9kb/21/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-7T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF2C+c.-7T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45205598">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,40:85:99:1154,0,1303:127	1|0:66,58:124:99:1698,0,1732:127	0|0:82,0:82:99:0,247,3010:127
1	45218895	.	A	T	3799.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3795713;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795713" target="_blank">rs3795713</a>;ExAC.Info.AC=26830;ExAC.Info.AN=126702;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20115;ExAC.Info.AC_Hom=3346;snpeff.Effect=sequence_feature[region_of_interest:Globular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>T;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Globular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>T;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Globular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>T;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Globular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>T;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Globular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>T;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Globular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>T;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Globular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>T;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Globular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>T;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Globular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>T;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgT;snpeff.Amino_Acid_Change=p.Arg177Arg/c.531A>T;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372224;SAVANT_GENE=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;SAVANT_INFO=+/27.9kb/21/2.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.531A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF2C+c.531A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45218895">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,16:33:99:463,0,406:114	1|0:23,36:59:99:943,0,620:114	0|0:38,0:38:99:0,114,1186:114
1	45224998	.	A	C	4137.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4342887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4342887" target="_blank">rs4342887</a>;ExAC.Info.AC=23847;ExAC.Info.AN=126704;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=19076;ExAC.Info.AC_Hom=2376;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.378T>G;snpeff.Gene_Name=RP11-269F19.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428791;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1345A>C;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1345A>C;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1345A>C;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1345A>C;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1345A>C;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1345A>C;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1345A>C;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1345A>C;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Ctc;snpeff.Amino_Acid_Change=p.Ile449Leu/c.1345A>C;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372224;SAVANT_GENE=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;SAVANT_INFO=+/27.9kb/21/2.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1345A>C_p.Ile449Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF2C+c.1345A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45224998">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,27:53:99:900,0,721:127	1|0:44,26:70:99:766,0,1189:127	0|0:77,0:77:99:0,230,2552:127
1	45226084	.	G	A	11413.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1140279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1140279" target="_blank">rs1140279</a>;ExAC.Info.AC=23274;ExAC.Info.AN=126704;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=18691;ExAC.Info.AC_Hom=2268;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.361+550C>T;snpeff.Gene_Name=RP11-269F19.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428791;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1500G>A;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1500G>A;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1500G>A;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1500G>A;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1500G>A;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1500G>A;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1500G>A;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala500Ala/c.1500G>A;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372224;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372224;SAVANT_GENE=KIF2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF2C" target="_blank">KIF2C</a>;SAVANT_INFO=+/27.9kb/21/2.9kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1500G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF2C+c.1500G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45226084">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,58:128:99:1561,0,1891:127	1|0:91,85:176:99:2423,0,2536:127	0|0:134,0:134:99:0,402,4395:127
1	45241285	.	C	G	7011.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12120833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12120833" target="_blank">rs12120833</a>;ExAC.Info.AC=13283;ExAC.Info.AN=126704;ExAC.Info.AF=0.105;ExAC.Info.AC_Het=11548;ExAC.Info.AC_Hom=867;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.198G>C;snpeff.Gene_Name=RP11-269F19.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428791;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4+13C>G;snpeff.Amino_Acid_length=208;snpeff.Gene_Name=RPS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-269F192" target="_blank">RP11-269F192</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396651;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396651;SAVANT_GENE=RPS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS8" target="_blank">RPS8</a>;SAVANT_INFO=+/3.3kb/6/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.4+13C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS8+c.4+13C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45241285">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,25:61:99:675,0,1013:127	1|0:49,54:103:99:1649,0,1356:127	0|0:91,0:91:99:0,273,3162:127
1	45250007	.	C	G	2512.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs59895800;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59895800" target="_blank">rs59895800</a>;ExAC.Info.AC=4606;ExAC.Info.AN=60986;ExAC.Info.AF=0.076;ExAC.Info.AC_Het=112;ExAC.Info.AC_Hom=22;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1297C>G;snpeff.Amino_Acid_length=473;snpeff.Gene_Name=BEST4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST4" target="_blank">BEST4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372207;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1297C>G;snpeff.Amino_Acid_length=473;snpeff.Gene_Name=BEST4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST4" target="_blank">BEST4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372207;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1297C>G;snpeff.Amino_Acid_length=473;snpeff.Gene_Name=BEST4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST4" target="_blank">BEST4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372207;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0147.1:Cmyc];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ctg;snpeff.Amino_Acid_Change=p.Val433Leu/c.1297G>C;snpeff.Amino_Acid_length=473;snpeff.Gene_Name=BEST4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST4" target="_blank">BEST4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372207;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372207;SAVANT_GENE=BEST4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST4" target="_blank">BEST4</a>;SAVANT_INFO=-/4.1kb/9/2.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1297G>C_p.Val433Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BEST4+c.1297G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45250007">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,8:24:99:219,0,468:96	0|0:32,0:32:96:0,96,1112:96	1|0:12,18:30:99:528,0,291:96
1	45269333	.	A	G	7192.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17886354;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17886354" target="_blank">rs17886354</a>;ExAC.Info.AC=11099;ExAC.Info.AN=126690;ExAC.Info.AF=0.088;ExAC.Info.AC_Het=9780;ExAC.Info.AC_Hom=567;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr378Thr/c.1134A>G;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=PLK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLK3" target="_blank">PLK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372201;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372201;SAVANT_GENE=PLK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLK3" target="_blank">PLK3</a>;SAVANT_INFO=+/5.8kb/15/2.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1134A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLK3+c.1134A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45269333">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,48:108:99:1420,0,1616:127	0|0:98,0:98:99:0,294,3356:127	1|0:42,40:82:99:1162,0,1102:127
1	45270024	.	G	C	9657.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11211036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11211036" target="_blank">rs11211036</a>;ExAC.Info.AC=23385;ExAC.Info.AN=126696;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=18807;ExAC.Info.AC_Hom=2283;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro452Pro/c.1356G>C;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=PLK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLK3" target="_blank">PLK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372201;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372201;SAVANT_GENE=PLK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLK3" target="_blank">PLK3</a>;SAVANT_INFO=+/5.8kb/15/2.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1356G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLK3+c.1356G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45270024">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,70:147:99:1878,0,2075:127	1|0:92,66:158:99:1770,0,2727:127	0|0:173,0:173:99:0,519,5960:127
1	45271097	.	G	A	8515.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17883049;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17883049" target="_blank">rs17883049</a>;ExAC.Info.AC=23408;ExAC.Info.AN=126702;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=18804;ExAC.Info.AC_Hom=2299;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1749+46G>A;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=PLK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLK3" target="_blank">PLK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372201;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:POLO_box_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1750G>A;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=PLK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLK3" target="_blank">PLK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372201;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:POLO_box_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1750G>A;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=PLK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLK3" target="_blank">PLK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372201;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372201;SAVANT_GENE=PLK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLK3" target="_blank">PLK3</a>;SAVANT_INFO=+/5.8kb/15/2.5kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1749+46G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLK3+c.1749+46G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45271097">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,50:110:99:1249,0,1803:127	1|0:62,67:129:99:1956,0,1868:127	0|0:105,0:105:99:0,315,3699:127
1	45271828	.	T	C	7358.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17885815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17885815" target="_blank">rs17885815</a>;ExAC.Info.AC=16555;ExAC.Info.AN=120366;ExAC.Info.AF=0.138;ExAC.Info.AC_Het=9424;ExAC.Info.AC_Hom=880;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val171Val/c.513A>G;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TCTEX1D4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTEX1D4" target="_blank">TCTEX1D4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372200;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372200;SAVANT_GENE=TCTEX1D4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTEX1D4" target="_blank">TCTEX1D4</a>;SAVANT_INFO=-/1.4kb/2/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.513A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCTEX1D4+c.513A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45271828">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,35:83:99:967,0,1191:127	0|0:129,0:129:99:0,387,4403:127	1|0:56,46:102:99:1454,0,1610:127
1	45271912	.	G	A	3119.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17886118;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17886118" target="_blank">rs17886118</a>;ExAC.Info.AC=8791;ExAC.Info.AN=83096;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=1927;ExAC.Info.AC_Hom=233;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp143Asp/c.429C>T;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TCTEX1D4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTEX1D4" target="_blank">TCTEX1D4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372200;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372200;SAVANT_GENE=TCTEX1D4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTEX1D4" target="_blank">TCTEX1D4</a>;SAVANT_INFO=-/1.4kb/2/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.429C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCTEX1D4+c.429C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45271912">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,9:21:99:279,0,365:104	1|0:18,22:40:99:720,0,532:104	0|0:34,0:34:99:0,105,1395:104
1	45278094	.	T	C	1118.05	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=35;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4073112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4073112" target="_blank">rs4073112</a>;ExAC.Info.AC=3011;ExAC.Info.AN=22610;ExAC.Info.AF=0.133;ExAC.Info.AC_Het=1684;ExAC.Info.AC_Hom=211;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.414+324T>C;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=BTBD19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD19" target="_blank">BTBD19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450269;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.415T>C;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=BTBD19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD19" target="_blank">BTBD19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450269;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.415T>C;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=BTBD19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD19" target="_blank">BTBD19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450269;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.415T>C;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=BTBD19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD19" target="_blank">BTBD19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450269;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.415T>C;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=BTBD19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD19" target="_blank">BTBD19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450269;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450269;SAVANT_GENE=BTBD19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD19" target="_blank">BTBD19</a>;SAVANT_INFO=+/5.6kb/8/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.414+324T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD19+c.414+324T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45278094">View</a>	GT:AD:DP:GQ:PL:TP	1|0:7,8:15:99:179,0,239:27	0|0:9,0:9:27:0,27,337:27	1|0:3,8:11:91:203,0,91:27
1	45291908	.	G	A	8955.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Medulloblastoma|_155255_(3)|_Basal_cell_carcinoma|_somatic|_605462_(3);dbSNP139.ID=rs11211040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11211040" target="_blank">rs11211040</a>;ExAC.Info.AC=23320;ExAC.Info.AN=126680;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=18571;ExAC.Info.AC_Hom=2127;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3114+14C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3115G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3115G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372192;SAVANT_GENE=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;SAVANT_INFO=-/21.1kb/22/4.2kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.3114+14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCH2+c.3114+14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45291908">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,53:101:99:1458,0,1345:127	1|0:80,62:142:99:1641,0,2465:127	0|0:104,0:104:99:0,312,3598:127
1	45292866	.	G	A	4969.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Medulloblastoma|_155255_(3)|_Basal_cell_carcinoma|_somatic|_605462_(3);dbSNP139.ID=rs2295996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295996" target="_blank">rs2295996</a>;ExAC.Info.AC=20353;ExAC.Info.AN=126698;ExAC.Info.AF=0.161;ExAC.Info.AC_Het=16803;ExAC.Info.AC_Hom=1758;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2487G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2487G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2487G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2487G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp829Asp/c.2487C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372192;SAVANT_GENE=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;SAVANT_INFO=-/21.1kb/22/4.2kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2487C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCH2+c.2487C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45292866">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,42:78:99:1089,0,1039:127	0|0:83,0:83:99:0,249,2777:127	1|0:32,34:66:99:963,0,935:127
1	45293518	.	A	G	13026.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Medulloblastoma|_155255_(3)|_Basal_cell_carcinoma|_somatic|_605462_(3);dbSNP139.ID=rs7525308;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7525308" target="_blank">rs7525308</a>;ExAC.Info.AC=48510;ExAC.Info.AN=126678;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=28904;ExAC.Info.AC_Hom=9676;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2055A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2055A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala685Ala/c.2055T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372192;SAVANT_GENE=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;SAVANT_INFO=-/21.1kb/22/4.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2055T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCH2+c.2055T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45293518">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2990,232,0:127	1|0:40,34:74:99:979,0,1114:127	1|0:35,39:74:99:1307,0,1059:127
1	45293752	.	T	C	8215.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=321;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Medulloblastoma|_155255_(3)|_Basal_cell_carcinoma|_somatic|_605462_(3);dbSNP139.ID=rs2295997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295997" target="_blank">rs2295997</a>;ExAC.Info.AC=24027;ExAC.Info.AN=126700;ExAC.Info.AF=0.190;ExAC.Info.AC_Het=19248;ExAC.Info.AC_Hom=2384;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1821T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1821T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu607Glu/c.1821A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372192;SAVANT_GENE=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;SAVANT_INFO=-/21.1kb/22/4.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1821A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCH2+c.1821A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45293752">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,52:111:99:1576,0,1711:127	1|0:60,45:105:99:1379,0,1840:127	0|0:105,0:105:99:0,315,3873:127
1	45294156	.	T	C	14664.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Medulloblastoma|_155255_(3)|_Basal_cell_carcinoma|_somatic|_605462_(3);dbSNP139.ID=rs2273940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273940" target="_blank">rs2273940</a>;ExAC.Info.AC=48325;ExAC.Info.AN=126658;ExAC.Info.AF=0.382;ExAC.Info.AC_Het=28806;ExAC.Info.AC_Hom=9571;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1590+22A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1591T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1591T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1591T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1591T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1591T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1591T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1591T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372192;SAVANT_GENE=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;SAVANT_INFO=-/21.1kb/22/4.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1590+22A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCH2+c.1590+22A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45294156">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2972,261,0:127	1|0:43,56:99:99:1648,0,1272:127	1|0:42,43:85:99:1292,0,1282:127
1	45296752	.	C	T	3926.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Medulloblastoma|_155255_(3)|_Basal_cell_carcinoma|_somatic|_605462_(3);dbSNP139.ID=rs2295998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295998" target="_blank">rs2295998</a>;ExAC.Info.AC=23186;ExAC.Info.AN=126384;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=16802;ExAC.Info.AC_Hom=1929;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.618-37G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372192;SAVANT_GENE=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;SAVANT_INFO=-/21.1kb/22/4.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.618-37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCH2+c.618-37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45296752">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,18:56:99:451,0,1031:127	1|0:44,38:82:99:1076,0,1285:127	0|0:83,0:83:99:0,249,2771:127
1	45297753	.	A	G	10245.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Medulloblastoma|_155255_(3)|_Basal_cell_carcinoma|_somatic|_605462_(3);dbSNP139.ID=rs2295999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295999" target="_blank">rs2295999</a>;ExAC.Info.AC=26744;ExAC.Info.AN=126704;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20440;ExAC.Info.AC_Hom=3266;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.456-37T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.456A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.456A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.456A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.456A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.456A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.456A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.456A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.456A>G;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372192;SAVANT_GENE=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;SAVANT_INFO=-/21.1kb/22/4.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.456-37T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCH2+c.456-37T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45297753">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,47:82:99:1492,0,861:127	1|0:60,76:136:99:2439,0,1883:127	0|0:109,0:109:99:0,328,3961:127
1	45307506	.	G	A	13132.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Medulloblastoma|_155255_(3)|_Basal_cell_carcinoma|_somatic|_605462_(3);dbSNP139.ID=rs3795720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795720" target="_blank">rs3795720</a>;ExAC.Info.AC=46544;ExAC.Info.AN=126704;ExAC.Info.AF=0.367;ExAC.Info.AC_Het=28633;ExAC.Info.AC_Hom=8940;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.265+13C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372192;SAVANT_GENE=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;SAVANT_INFO=-/21.1kb/22/4.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.265+13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCH2+c.265+13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45307506">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2189,204,0:127	1|0:48,47:95:99:1178,0,1320:127	1|0:43,36:79:99:944,0,1384:127
1	45308409	.	G	A	9080.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Medulloblastoma|_155255_(3)|_Basal_cell_carcinoma|_somatic|_605462_(3);dbSNP139.ID=rs6696675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6696675" target="_blank">rs6696675</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.72+124C>T;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.73G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.73G>A;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372192;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372192;SAVANT_GENE=PTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCH2" target="_blank">PTCH2</a>;SAVANT_INFO=-/21.1kb/22/4.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.72+124C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCH2+c.72+124C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45308409">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2168,204,0:127	1|0:32,31:63:99:871,0,946:127	1|0:29,18:47:99:477,0,952:127
1	45341186	.	C	T	8773.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Leukoencephalopathy_with_vanishing_white_matter|_603896_(3);dbSNP139.ID=rs72674089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72674089" target="_blank">rs72674089</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1053+104G>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=EIF2B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2B3" target="_blank">EIF2B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360403;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360403;SAVANT_GENE=EIF2B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2B3" target="_blank">EIF2B3</a>;SAVANT_INFO=-/135.8kb/12/1.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1053+104G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2B3+c.1053+104G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45341186">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,52:108:99:1429,0,1833:127	1|0:66,70:136:99:2111,0,2144:127	0|0:109,0:109:99:0,327,4041:127
1	45345446	.	T	A	11896.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=649;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Leukoencephalopathy_with_vanishing_white_matter|_603896_(3);dbSNP139.ID=rs3738248;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738248" target="_blank">rs3738248</a>;ExAC.Info.AC=20597;ExAC.Info.AN=126704;ExAC.Info.AF=0.163;ExAC.Info.AC_Het=17062;ExAC.Info.AC_Hom=1712;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.975+44A>T;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=EIF2B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2B3" target="_blank">EIF2B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360403;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360403;SAVANT_GENE=EIF2B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2B3" target="_blank">EIF2B3</a>;SAVANT_INFO=-/135.8kb/12/1.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.975+44A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2B3+c.975+44A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45345446">View</a>	GT:AD:DP:GQ:PL:TP	1|0:106,105:211:99:2798,0,3009:127	0|0:252,0:252:99:0,757,8521:127	1|0:98,88:186:99:2488,0,2747:127
1	45444038	.	G	A	22221.03	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1125;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Leukoencephalopathy_with_vanishing_white_matter|_603896_(3);dbSNP139.ID=rs11556200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11556200" target="_blank">rs11556200</a>;ExAC.Info.AC=32703;ExAC.Info.AN=126702;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=23394;ExAC.Info.AC_Hom=4654;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000081999;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp81Asp/c.243C>T;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=EIF2B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2B3" target="_blank">EIF2B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360403;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360403;SAVANT_GENE=EIF2B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2B3" target="_blank">EIF2B3</a>;SAVANT_INFO=-/135.8kb/12/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.243C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2B3+c.243C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45444038">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081999" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:177,154:331:99:4137,0,4866:127	1|0:198,202:400:99:5884,0,5538:127	0|0:392,2:394:99:0,1134,12904:127
1	45469176	.	A	T	3252.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12749251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12749251" target="_blank">rs12749251</a>;ExAC.Info.AC=13690;ExAC.Info.AN=125878;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=11764;ExAC.Info.AC_Hom=951;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccA;snpeff.Amino_Acid_Change=p.Pro858Pro/c.2574T>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372172;SAVANT_GENE=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;SAVANT_INFO=-/8.8kb/21/3.6kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2574T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HECTD3+c.2574T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45469176">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,22:35:99:647,0,373:96	1|0:22,15:37:99:428,0,697:96	0|0:32,0:32:96:0,96,1222:96
1	45469586	.	G	A	6631.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41312020;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41312020" target="_blank">rs41312020</a>;ExAC.Info.AC=8741;ExAC.Info.AN=125404;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=8005;ExAC.Info.AC_Hom=354;snpeff.Effect=sequence_feature[domain:HECT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HECT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HECT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HECT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HECT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HECT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HECT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HECT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HECT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HECT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HECT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370G>A;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg790Arg/c.2370C>T;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372172;SAVANT_GENE=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;SAVANT_INFO=-/8.8kb/21/3.6kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2370C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HECTD3+c.2370C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45469586">View</a>	GT:AD:DP:GQ:PL:TP	1|0:45,48:93:99:1382,0,1428:127	0|0:111,0:111:99:0,334,4300:127	1|0:47,39:86:99:1151,0,1438:127
1	45474008	.	T	C	4918.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7541207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7541207" target="_blank">rs7541207</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=32133;ExAC.Info.AN=125324;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=23335;ExAC.Info.AC_Hom=4380;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1239-15A>G;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372172;SAVANT_GENE=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;SAVANT_INFO=-/8.8kb/21/3.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1239-15A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HECTD3+c.1239-15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45474008">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,31:60:99:927,0,765:127	1|0:46,34:80:99:1006,0,1303:127	0|0:78,0:78:99:0,234,2558:127
1	45476663	.	G	A	3414.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2298005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298005" target="_blank">rs2298005</a>;ExAC.Info.AC=27009;ExAC.Info.AN=112238;ExAC.Info.AF=0.241;ExAC.Info.AC_Het=15631;ExAC.Info.AC_Hom=2824;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu89Leu/c.267C>T;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372172;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372172;SAVANT_GENE=HECTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD3" target="_blank">HECTD3</a>;SAVANT_INFO=-/8.8kb/21/3.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.267C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HECTD3+c.267C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45476663">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,22:36:99:658,0,439:114	1|0:25,21:46:99:574,0,821:114	0|0:38,0:38:99:0,114,1487:114
1	45479499	.	G	C	8558.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Porphyria_cutanea_tarda|_176100_(3)|_Porphyria|_hepatoerythropoietic|_176100_(3);dbSNP139.ID=rs2234480;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234480" target="_blank">rs2234480</a>;ExAC.Info.AC=9490;ExAC.Info.AN=126704;ExAC.Info.AF=0.075;ExAC.Info.AC_Het=8620;ExAC.Info.AC_Hom=433;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.474+36G>C;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246337;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.475G>C;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246337;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.475G>C;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246337;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246337;SAVANT_GENE=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;SAVANT_INFO=+/3.4kb/10/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.474+36G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UROD+c.474+36G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45479499">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,50:99:99:1581,0,1647:127	0|0:145,0:145:99:0,436,5490:127	1|0:67,52:119:99:1673,0,2060:127
1	45479709	.	A	G	6568.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Porphyria_cutanea_tarda|_176100_(3)|_Porphyria|_hepatoerythropoietic|_176100_(3);dbSNP139.ID=rs2228084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228084" target="_blank">rs2228084</a>;ExAC.Info.AC=9492;ExAC.Info.AN=126704;ExAC.Info.AF=0.075;ExAC.Info.AC_Het=8623;ExAC.Info.AC_Hom=434;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.603A>G;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246337;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro201Pro/c.603A>G;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246337;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246337;SAVANT_GENE=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;SAVANT_INFO=+/3.4kb/10/1.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.603A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UROD+c.603A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45479709">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,44:82:99:1320,0,1043:127	0|0:120,0:120:99:0,360,4093:127	1|0:41,44:85:99:1349,0,1132:127
1	45479772	.	G	T	5972.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Porphyria_cutanea_tarda|_176100_(3)|_Porphyria|_hepatoerythropoietic|_176100_(3);dbSNP139.ID=rs11211066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11211066" target="_blank">rs11211066</a>;ExAC.Info.AC=32303;ExAC.Info.AN=126704;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=23447;ExAC.Info.AC_Hom=4394;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.636+30G>T;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246337;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246337;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246337;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246337;SAVANT_GENE=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;SAVANT_INFO=+/3.4kb/10/1.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.636+30G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UROD+c.636+30G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45479772">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,34:82:99:822,0,1392:127	1|0:55,43:98:99:1194,0,1722:127	0|0:77,0:77:99:0,231,2611:127
1	45480733	.	C	T	46883.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=623;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Porphyria_cutanea_tarda|_176100_(3)|_Porphyria|_hepatoerythropoietic|_176100_(3);dbSNP139.ID=rs6429553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6429553" target="_blank">rs6429553</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.942+55C>T;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246337;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.943C>T;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246337;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.943C>T;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000246337;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000246337;SAVANT_GENE=UROD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROD" target="_blank">UROD</a>;SAVANT_INFO=+/3.4kb/10/1.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.942+55C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UROD+c.942+55C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45480733">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,160:160:99:5249,480,0:127	1|1:0,260:260:99:8681,779,0:127	1|1:0,203:203:99:7020,609,0:127
1	45504720	.	G	C	3846.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=200;MQ=69.94;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7551698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7551698" target="_blank">rs7551698</a>;ExAC.Info.AC=71098;ExAC.Info.AN=125234;ExAC.Info.AF=0.568;ExAC.Info.AC_Het=29437;ExAC.Info.AC_Hom=20784;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acG;snpeff.Amino_Acid_Change=p.Thr594Thr/c.1782C>G;snpeff.Amino_Acid_length=1185;snpeff.Gene_Name=ZSWIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSWIM5" target="_blank">ZSWIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359600;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359600;SAVANT_GENE=ZSWIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSWIM5" target="_blank">ZSWIM5</a>;SAVANT_INFO=-/190.2kb/14/5.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1782C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZSWIM5+c.1782C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45504720">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2237:127	0|1:39,44:83:99:1268,0,1131:127	0|1:31,22:53:99:675,0,889:127
1	45504806	.	C	T	3725.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72684426;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72684426" target="_blank">rs72684426</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1757-61G>A;snpeff.Amino_Acid_length=1185;snpeff.Gene_Name=ZSWIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSWIM5" target="_blank">ZSWIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359600;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359600;SAVANT_GENE=ZSWIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSWIM5" target="_blank">ZSWIM5</a>;SAVANT_INFO=-/190.2kb/14/5.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1757-61G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZSWIM5+c.1757-61G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45504806">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,45:81:99:1137,0,961:127	0|0:94,0:94:99:0,282,3070:127	1|0:39,21:60:99:486,0,1099:127
1	45671966	.	A	G	12071.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs4454584;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4454584" target="_blank">rs4454584</a>;ExAC.Info.AC=24567;ExAC.Info.AN=116050;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=9249;ExAC.Info.AC_Hom=1690;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala19Ala/c.57T>C;snpeff.Amino_Acid_length=1185;snpeff.Gene_Name=ZSWIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSWIM5" target="_blank">ZSWIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359600;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359600;SAVANT_GENE=ZSWIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSWIM5" target="_blank">ZSWIM5</a>;SAVANT_INFO=-/190.2kb/14/5.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.57T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZSWIM5+c.57T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45671966">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2005,159,0:127	1|0:33,29:62:99:894,0,986:127	1|0:20,34:54:99:1062,0,527:127
1	45796269	.	G	C	55523.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=720;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Adenomas|_multiple_colorectal|_608456_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Colorectal_adenomatous_polyposis|_autosomal_recessive|_with_pilomatricomas|_132600_(3)|Adenomas|_multiple_colorectal|_608456_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Colorectal_adenomatous_polyposis|_autosomal_recessive|_with_pilomatricomas|_132600_(3);dbSNP139.ID=rs3219493;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3219493" target="_blank">rs3219493</a>;ExAC.Info.AC=115439;ExAC.Info.AN=125830;ExAC.Info.AF=0.917;ExAC.Info.AC_Het=6188;ExAC.Info.AC_Hom=38090;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1477-40C>G;snpeff.Amino_Acid_length=549;snpeff.Gene_Name=MUTYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUTYH" target="_blank">MUTYH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450313;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450313;SAVANT_GENE=MUTYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUTYH" target="_blank">MUTYH</a>;SAVANT_INFO=-/11.2kb/16/1.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1477-40C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUTYH+c.1477-40C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45796269">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,227:227:99:7683,680,0:127	1|1:0,249:249:99:8700,748,0:127	1|1:0,244:244:99:8485,732,0:127
1	45797505	.	C	G	6549.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Adenomas|_multiple_colorectal|_608456_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Colorectal_adenomatous_polyposis|_autosomal_recessive|_with_pilomatricomas|_132600_(3)|Adenomas|_multiple_colorectal|_608456_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Colorectal_adenomatous_polyposis|_autosomal_recessive|_with_pilomatricomas|_132600_(3);ExperienceDB.ASSAY=HCCP-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=benign_based_on_Mayo_data_set|_dbSNP_and_Kurts_common_calls;ExperienceDB.Submitter=Schahl;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|B|P|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3219489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3219489" target="_blank">rs3219489</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Reduced_activity;hgmd_2014.2.OMIM_ID=604933;hgmd_2014.2.PubMed=18534194;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=18534194" target="_blank">18534194</a>;ExAC.Info.AC=33814;ExAC.Info.AN=126232;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=21199;ExAC.Info.AC_Hom=4456;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000144634|RCV000034684|RCV000079500|RCV000131427;Clinvar.PhenotypeIDs=MedGen:C0027672|MedGen:C0699790|SNOMED_CT:269533000|MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caC;snpeff.Amino_Acid_Change=p.Gln338His/c.1014G>C;snpeff.Amino_Acid_length=549;snpeff.Gene_Name=MUTYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUTYH" target="_blank">MUTYH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450313;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450313;SAVANT_GENE=MUTYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUTYH" target="_blank">MUTYH</a>;SAVANT_INFO=-/11.2kb/16/1.9kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1014G>C_p.Gln338His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUTYH+c.1014G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45797505">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144634%20OR%20RCV000034684%20OR%20RCV000079500%20OR%20RCV000131427" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:27,24:51:99:828,0,860:127	1|0:55,50:105:99:1604,0,1534:127	0|0:61,0:61:99:0,183,2335:127
1	45798555	.	T	C	43585.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=546;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Adenomas|_multiple_colorectal|_608456_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Colorectal_adenomatous_polyposis|_autosomal_recessive|_with_pilomatricomas|_132600_(3)|Adenomas|_multiple_colorectal|_608456_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Colorectal_adenomatous_polyposis|_autosomal_recessive|_with_pilomatricomas|_132600_(3);dbSNP139.ID=rs3219487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3219487" target="_blank">rs3219487</a>;ExAC.Info.AC=117334;ExAC.Info.AN=126704;ExAC.Info.AF=0.926;ExAC.Info.AC_Het=8557;ExAC.Info.AC_Hom=54364;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.504+35A>G;snpeff.Amino_Acid_length=549;snpeff.Gene_Name=MUTYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUTYH" target="_blank">MUTYH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450313;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450313;SAVANT_GENE=MUTYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUTYH" target="_blank">MUTYH</a>;SAVANT_INFO=-/11.2kb/16/1.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.504+35A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUTYH+c.504+35A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45798555">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,183:183:99:6325,550,0:127	1|1:0,206:206:99:7441,619,0:127	1|1:0,157:157:99:5351,472,0:127
1	45805566	.	G	C	19029.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Adenomas|_multiple_colorectal|_608456_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Colorectal_adenomatous_polyposis|_autosomal_recessive|_with_pilomatricomas|_132600_(3)|Adenomas|_multiple_colorectal|_608456_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Colorectal_adenomatous_polyposis|_autosomal_recessive|_with_pilomatricomas|_132600_(3);dbSNP139.ID=rs3219468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3219468" target="_blank">rs3219468</a>;ExAC.Info.AC=107072;ExAC.Info.AN=108586;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=461;ExAC.Info.AC_Hom=19154;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.36+325C>G;snpeff.Amino_Acid_length=549;snpeff.Gene_Name=MUTYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUTYH" target="_blank">MUTYH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450313;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=359;snpeff.Amino_Acid_Change=c.-359G>C;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=TOE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUTYH" target="_blank">MUTYH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372090;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372090:ENST00000450313;SAVANT_GENE=TOE1:MUTYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOE1:MUTYH" target="_blank">TOE1:MUTYH</a>;SAVANT_INFO=+/4.3kb/8/2.4kb:-/11.2kb/16/1.9kb;SAVANT_LOC=5UTR:In1/2;SAVANT_HGVS=c.-359G>C:c.36+325C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOE1:MUTYH+c.-359G>C:c.36+325C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45805566">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1987,168,0:127	1|1:0,81:81:99:2860,243,0:127	1|1:0,65:65:99:2461,195,0:127
1	45965307	.	G	A	3902.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12568144;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12568144" target="_blank">rs12568144</a>;ExAC.Info.AC=52082;ExAC.Info.AN=122690;ExAC.Info.AF=0.425;ExAC.Info.AC_Het=15936;ExAC.Info.AC_Hom=6707;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=26;snpeff.Amino_Acid_Change=c.-26C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CCDC163P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC163P" target="_blank">CCDC163P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000488405;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000488405;SAVANT_GENE=CCDC163P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC163P" target="_blank">CCDC163P</a>;SAVANT_INFO=-/3.6kb/4/0.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC163P+c.-26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45965307">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,316,3878:127	0|1:67,66:133:99:1970,0,2064:127	0|0:121,0:121:99:0,364,4479:127
1	45973928	.	G	A	5802.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Methylmalonic_aciduria_and_homocystinuria|_cblC_type|_277400_(3)|Methylmalonic_aciduria_and_homocystinuria|_cblC_type|_277400_(3);dbSNP139.ID=rs2275276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275276" target="_blank">rs2275276</a>;ExAC.Info.AC=58352;ExAC.Info.AN=125338;ExAC.Info.AF=0.466;ExAC.Info.AC_Het=30814;ExAC.Info.AC_Hom=13736;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126793|RCV000081738;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val107Val/c.321G>A;snpeff.Amino_Acid_length=282;snpeff.Gene_Name=MMACHC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMACHC" target="_blank">MMACHC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401061;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401061;SAVANT_GENE=MMACHC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMACHC" target="_blank">MMACHC</a>;SAVANT_INFO=+/11.0kb/4/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.321G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMACHC+c.321G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45973928">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126793%20OR%20RCV000081738" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,369,4347:127	0|1:88,108:196:99:2920,0,2858:127	0|0:125,0:125:99:0,375,4490:127
1	45981512	.	T	C	22370.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Methylmalonic_aciduria_and_homocystinuria|_cblC_type|_277400_(3)|Methylmalonic_aciduria_and_homocystinuria|_cblC_type|_277400_(3);dbSNP139.ID=rs2356559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2356559" target="_blank">rs2356559</a>;ExAC.Info.AC=91992;ExAC.Info.AN=126680;ExAC.Info.AF=0.726;ExAC.Info.AC_Het=23830;ExAC.Info.AC_Hom=33918;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.107-33A>G;snpeff.Amino_Acid_length=199;snpeff.Gene_Name=PRDX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDX1" target="_blank">PRDX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319248;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107T>C;snpeff.Amino_Acid_length=199;snpeff.Gene_Name=PRDX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDX1" target="_blank">PRDX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319248;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107T>C;snpeff.Amino_Acid_length=199;snpeff.Gene_Name=PRDX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDX1" target="_blank">PRDX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319248;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107T>C;snpeff.Amino_Acid_length=199;snpeff.Gene_Name=PRDX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDX1" target="_blank">PRDX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319248;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107T>C;snpeff.Amino_Acid_length=199;snpeff.Gene_Name=PRDX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDX1" target="_blank">PRDX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319248;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262746;SAVANT_GENE=PRDX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDX1" target="_blank">PRDX1</a>;SAVANT_INFO=-/10.9kb/6/1.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.107-33A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDX1+c.107-33A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:45981512">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:3719,336,0:127	1|1:0,129:129:99:4512,388,0:127	1|0:55,53:108:99:1558,0,1573:127
1	46032311	.	A	G	1066.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2229540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229540" target="_blank">rs2229540</a>;ExAC.Info.AC=5773;ExAC.Info.AN=126704;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=5325;ExAC.Info.AC_Hom=224;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn52Ser/c.155A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=AKR1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1A1" target="_blank">AKR1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372070;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372070;SAVANT_GENE=AKR1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1A1" target="_blank">AKR1A1</a>;SAVANT_INFO=+/19.5kb/10/1.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.155A>G_p.Asn52Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1A1+c.155A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46032311">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1153:98	0|0:45,0:45:99:0,135,1601:98	0|1:14,16:30:99:552,0,421:98
1	46065998	.	T	C	38168.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=471;MQ=69.76;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3014211;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3014211" target="_blank">rs3014211</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.41-59T>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350030;SAVANT_GENE=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;SAVANT_INFO=+/34.8kb/15/3.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.108-1929T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NASP+c.108-1929T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46065998">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,146:147:99:5253,407,0:127	1|1:0,170:170:99:6211,511,0:127	1|1:0,154:154:99:5634,463,0:127
1	46073489	.	G	A	980.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2230657;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230657" target="_blank">rs2230657</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=65569;ExAC.Info.AN=126700;ExAC.Info.AF=0.518;ExAC.Info.AC_Het=30924;ExAC.Info.AC_Hom=17214;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.912G>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.912G>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.912G>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.912G>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.912G>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.912G>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.912G>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro304Pro/c.912G>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350030;SAVANT_GENE=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;SAVANT_INFO=+/34.8kb/15/3.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.906G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NASP+c.906G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46073489">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1263:104	0|1:38,21:59:99:509,0,1106:104	0|0:35,0:35:99:0,105,1229:104
1	46078854	.	A	G	2928.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230658" target="_blank">rs2230658</a>;ExAC.Info.AC=88719;ExAC.Info.AN=126690;ExAC.Info.AF=0.700;ExAC.Info.AC_Het=26162;ExAC.Info.AC_Hom=30906;snpeff.Effect=sequence_feature[amino_acid_modification:phosphoserine];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Histone-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Histone-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Histone-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser482Ser/c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphoserine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350030;SAVANT_GENE=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;SAVANT_INFO=+/34.8kb/15/3.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1440A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NASP+c.1440A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46078854">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2151:127	0|1:40,26:66:99:705,0,1217:127	0|1:34,26:60:99:779,0,1004:127
1	46078884	.	C	T	2768.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230659" target="_blank">rs2230659</a>;ExAC.Info.AC=88720;ExAC.Info.AN=126692;ExAC.Info.AF=0.700;ExAC.Info.AC_Het=26199;ExAC.Info.AC_Hom=31051;snpeff.Effect=sequence_feature[region_of_interest:Histone-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Histone-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Histone-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr492Thr/c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphothreonine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.1476C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350030;SAVANT_GENE=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;SAVANT_INFO=+/34.8kb/15/3.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1470C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NASP+c.1470C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46078884">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2093:127	0|1:44,28:72:99:715,0,1216:127	0|1:31,24:55:99:689,0,876:127
1	46080947	.	A	C	12052.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=549;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1972410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1972410" target="_blank">rs1972410</a>;ExAC.Info.AC=89636;ExAC.Info.AN=126684;ExAC.Info.AF=0.708;ExAC.Info.AC_Het=25862;ExAC.Info.AC_Hom=31822;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1862-30A>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1862A>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1862A>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1862A>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1862A>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1862A>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1862A>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1862A>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1862A>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1862A>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350030;SAVANT_GENE=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;SAVANT_INFO=+/34.8kb/15/3.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1856-30A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NASP+c.1856-30A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46080947">View</a>	GT:AD:DP:GQ:PL:TP	0|0:169,0:169:99:0,508,5863:127	0|1:92,127:219:99:3716,0,2678:127	0|1:84,77:161:99:2330,0,2518:127
1	46082431	.	C	A	5418.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2991988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2991988" target="_blank">rs2991988</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2163+56C>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Nuclear_localization_signal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2164C>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Nuclear_localization_signal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2164C>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350030;SAVANT_GENE=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;SAVANT_INFO=+/34.8kb/15/3.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2157+56C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NASP+c.2157+56C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46082431">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,310,3581:127	0|1:59,48:107:99:1284,0,1721:127	0|1:62,54:116:99:1445,0,1947:127
1	46083706	.	C	G	2522.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41310432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41310432" target="_blank">rs41310432</a>;ExAC.Info.AC=19907;ExAC.Info.AN=125496;ExAC.Info.AF=0.159;ExAC.Info.AC_Het=9860;ExAC.Info.AC_Hom=1301;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2293-27C>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2293C>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2293C>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402363;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350030;SAVANT_GENE=NASP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NASP" target="_blank">NASP</a>;SAVANT_INFO=+/34.8kb/15/3.2kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2287-27C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NASP+c.2287-27C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46083706">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,3082:127	0|0:118,1:119:99:0,323,4096:127	0|1:43,45:88:99:1280,0,1340:127
1	46086077	.	C	T	4402.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3014246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3014246" target="_blank">rs3014246</a>;ExAC.Info.AC=87263;ExAC.Info.AN=126182;ExAC.Info.AF=0.692;ExAC.Info.AC_Het=23216;ExAC.Info.AC_Hom=26026;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser580Asn/c.1739G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528266;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528266;SAVANT_GENE=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;SAVANT_INFO=-/3.9kb/13/2.2kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1739G>A_p.Ser580Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC17+c.1739G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46086077">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2438:127	0|1:46,43:89:99:1235,0,1329:127	0|1:20,32:52:99:986,0,639:127
1	46087577	.	G	A	8658.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3014242;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3014242" target="_blank">rs3014242</a>;ExAC.Info.AC=87923;ExAC.Info.AN=126216;ExAC.Info.AF=0.697;ExAC.Info.AC_Het=25224;ExAC.Info.AC_Hom=29436;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1058G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528266;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1058G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528266;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro353Leu/c.1058C>T;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528266;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528266;SAVANT_GENE=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;SAVANT_INFO=-/3.9kb/13/2.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1058C>T_p.Pro353Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC17+c.1058C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46087577">View</a>	GT:AD:DP:GQ:PL:TP	0|0:138,0:138:99:0,415,4689:127	0|1:85,86:171:99:2636,0,2459:127	0|1:65,60:125:99:1713,0,1798:127
1	46087879	.	A	G	5348.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3014241;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3014241" target="_blank">rs3014241</a>;ExAC.Info.AC=87385;ExAC.Info.AN=125898;ExAC.Info.AF=0.694;ExAC.Info.AC_Het=21330;ExAC.Info.AC_Hom=25849;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.967+34T>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528266;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528266;SAVANT_GENE=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;SAVANT_INFO=-/3.9kb/13/2.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.967+34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC17+c.967+34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46087879">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,3033:127	0|1:51,44:95:99:1269,0,1606:127	0|1:49,49:98:99:1425,0,1386:127
1	46089225	.	C	G	9022.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=431;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3014240;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3014240" target="_blank">rs3014240</a>;ExAC.Info.AC=16362;ExAC.Info.AN=24530;ExAC.Info.AF=0.667;ExAC.Info.AC_Het=3495;ExAC.Info.AC_Hom=4046;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.270+4G>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528266;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.271C>G;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528266;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.271C>G;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528266;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.271G>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528266;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528266;SAVANT_GENE=CCDC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC17" target="_blank">CCDC17</a>;SAVANT_INFO=-/3.9kb/13/2.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.270+4G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC17+c.270+4G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46089225">View</a>	GT:AD:DP:GQ:PL:TP	0|0:136,0:136:99:0,408,5046:127	0|1:98,76:174:99:2319,0,3138:127	0|1:56,65:121:99:2212,0,1877:127
1	46094027	.	A	G	19466.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1250" target="_blank">rs1250</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=38032;ExAC.Info.AN=126704;ExAC.Info.AF=0.300;ExAC.Info.AC_Het=26308;ExAC.Info.AC_Hom=5858;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser442Ser/c.1326T>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=GPBP1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPBP1L1" target="_blank">GPBP1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355105;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355105;SAVANT_GENE=GPBP1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPBP1L1" target="_blank">GPBP1L1</a>;SAVANT_INFO=-/59.3kb/13/3.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1326T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPBP1L1+c.1326T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46094027">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4377,367,0:127	1|0:60,72:132:99:2141,0,1584:127	1|0:51,61:112:99:1832,0,1389:127
1	46095272	.	T	C	21282.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1135812;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1135812" target="_blank">rs1135812</a>;ExAC.Info.AC=38574;ExAC.Info.AN=126704;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=26578;ExAC.Info.AC_Hom=5988;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys416Lys/c.1248A>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=GPBP1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPBP1L1" target="_blank">GPBP1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355105;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355105;SAVANT_GENE=GPBP1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPBP1L1" target="_blank">GPBP1L1</a>;SAVANT_INFO=-/59.3kb/13/3.7kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1248A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPBP1L1+c.1248A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46095272">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3620,324,0:127	1|0:99,74:173:99:1860,0,3021:127	1|0:78,63:141:99:1735,0,2302:127
1	46124663	.	A	G	21263.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6671802;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6671802" target="_blank">rs6671802</a>;ExAC.Info.AC=65675;ExAC.Info.AN=126700;ExAC.Info.AF=0.518;ExAC.Info.AC_Het=31131;ExAC.Info.AC_Hom=17246;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.60+37T>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=GPBP1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPBP1L1" target="_blank">GPBP1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355105;SAVANT_GENE=GPBP1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPBP1L1" target="_blank">GPBP1L1</a>;SAVANT_INFO=-/59.3kb/13/3.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.60+37T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPBP1L1+c.60+37T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46124663">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3685,330,0:127	1|0:42,71:113:99:2206,0,1306:127	1|1:0,93:93:99:3359,280,0:127
1	46160260	.	C	T	17367.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs6658700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6658700" target="_blank">rs6658700</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=IPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPP" target="_blank">IPP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPP" target="_blank">IPP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46160260">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:3556,345,0:127	1|0:55,76:131:99:2223,0,1756:127	1|0:51,64:115:99:1876,0,1541:127
1	46166861	.	G	C	11765.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs4564187;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4564187" target="_blank">rs4564187</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1531-999C>G;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=IPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPP" target="_blank">IPP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396478;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Kelch_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1531G>C;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=IPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPP" target="_blank">IPP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396478;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Kelch_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1531G>C;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=IPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPP" target="_blank">IPP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396478;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396478;SAVANT_GENE=IPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPP" target="_blank">IPP</a>;SAVANT_INFO=-/51.9kb/9/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1531-999C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPP+c.1531-999C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46166861">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2113,189,0:127	1|0:66,55:121:99:1460,0,1867:127	1|0:40,49:89:99:1335,0,1076:127
1	46195375	.	T	C	41818.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=865;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28375469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28375469" target="_blank">rs28375469</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=38462;ExAC.Info.AN=126698;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=26501;ExAC.Info.AC_Hom=5974;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys264Arg/c.791A>G;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=IPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPP" target="_blank">IPP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396478;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396478;SAVANT_GENE=IPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPP" target="_blank">IPP</a>;SAVANT_INFO=-/51.9kb/9/3.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.791A>G_p.Lys264Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPP+c.791A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46195375">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,297:297:99:10395,892,0:127	1|0:173,138:311:99:4360,0,5082:127	1|0:135,122:257:99:3600,0,3972:127
1	46379518	.	A	G	32114.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4256763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4256763" target="_blank">rs4256763</a>;ExAC.Info.AC=13346;ExAC.Info.AN=17610;ExAC.Info.AF=0.758;ExAC.Info.AC_Het=1988;ExAC.Info.AC_Hom=4025;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.500+31451A>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361297;SAVANT_GENE=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;SAVANT_INFO=+/232.5kb/29/5.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.500+31451A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAST2+c.500+31451A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46379518">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,121:121:99:4542,364,0:127	1|1:0,187:187:99:6685,562,0:127	1|0:61,72:133:99:2313,0,1839:127
1	46466721	.	T	C	4124.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11589562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11589562" target="_blank">rs11589562</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.669-1756T>C;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361297;SAVANT_GENE=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;SAVANT_INFO=+/232.5kb/29/5.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.669-1756T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAST2+c.669-1756T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46466721">View</a>	GT:AD:DP:GQ:PL:TP	0|0:154,0:154:99:0,462,5010:127	0|1:96,78:174:99:2081,0,2755:127	0|0:141,0:141:99:0,423,4940:127
1	46473902	.	A	T	7259.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3922886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3922886" target="_blank">rs3922886</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.903-66A>T;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphoserine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.903A>T;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphoserine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.903A>T;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361297;SAVANT_GENE=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;SAVANT_INFO=+/232.5kb/29/5.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.903-66A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAST2+c.903-66A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46473902">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1771,165,0:127	1|0:30,25:55:99:706,0,767:127	1|0:26,13:39:99:291,0,696:127
1	46476587	.	T	G	12697.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11211247;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11211247" target="_blank">rs11211247</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=99019;ExAC.Info.AN=125154;ExAC.Info.AF=0.791;ExAC.Info.AC_Het=19563;ExAC.Info.AC_Hom=39671;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaG;snpeff.Amino_Acid_Change=p.Asp388Glu/c.1164T>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361297;SAVANT_GENE=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;SAVANT_INFO=+/232.5kb/29/5.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1164T>G_p.Asp388Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAST2+c.1164T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46476587">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1629,138,0:127	1|1:0,64:64:99:2219,192,0:127	1|0:37,22:59:99:660,0,1043:127
1	46487552	.	G	A	3074.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2275426;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275426" target="_blank">rs2275426</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1291-70G>A;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361297;SAVANT_GENE=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;SAVANT_INFO=+/232.5kb/29/5.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1291-70G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAST2+c.1291-70G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46487552">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,352,6439:127	0|1:58,54:112:99:1556,0,2972:127	0|0:116,0:116:99:0,355,5183:127
1	46487560	.	A	G	8190.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs946524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=946524" target="_blank">rs946524</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1291-62A>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361297;SAVANT_GENE=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;SAVANT_INFO=+/232.5kb/29/5.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1291-62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAST2+c.1291-62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46487560">View</a>	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,369,4373:127	0|1:65,64:129:99:2414,0,2020:127	0|1:61,65:126:99:1701,0,1756:127
1	46493460	.	T	G	6050.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|B|D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1707336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1707336" target="_blank">rs1707336</a>;ExAC.Info.AC=57680;ExAC.Info.AN=125350;ExAC.Info.AF=0.460;ExAC.Info.AC_Het=30432;ExAC.Info.AC_Hom=13592;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1977T>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1977T>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1977T>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1977T>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1977T>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1977T>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1977T>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atT/atG;snpeff.Amino_Acid_Change=p.Ile659Met/c.1977T>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361297;SAVANT_GENE=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;SAVANT_INFO=+/232.5kb/29/5.7kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1977T>G_p.Ile659Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAST2+c.1977T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46493460">View</a>	GT:AD:DP:GQ:PL:TP	0|0:159,0:159:99:0,478,5138:127	0|1:92,104:196:99:3044,0,2430:127	0|0:171,0:171:99:0,514,5574:127
1	46496709	.	A	G	3802.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs925524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=925524" target="_blank">rs925524</a>;ExAC.Info.AC=86241;ExAC.Info.AN=125254;ExAC.Info.AF=0.689;ExAC.Info.AC_Het=26348;ExAC.Info.AC_Hom=29615;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser913Ser/c.2739A>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361297;SAVANT_GENE=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;SAVANT_INFO=+/232.5kb/29/5.7kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.2739A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAST2+c.2739A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46496709">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1478:127	0|1:23,38:61:99:1128,0,523:127	0|1:24,28:52:99:793,0,635:127
1	46498375	.	A	G	4704.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1622208;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1622208" target="_blank">rs1622208</a>;ExAC.Info.AC=88149;ExAC.Info.AN=126602;ExAC.Info.AF=0.696;ExAC.Info.AC_Het=26199;ExAC.Info.AC_Hom=30627;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3522A>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3522A>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3522A>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3522A>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3522A>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val1174Val/c.3522A>G;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361297;SAVANT_GENE=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;SAVANT_INFO=+/232.5kb/29/5.7kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.3522A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAST2+c.3522A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46498375">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1694:127	0|1:44,49:93:99:1489,0,1309:127	0|1:29,28:57:99:883,0,860:127
1	46500613	.	T	C	3140.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17855317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17855317" target="_blank">rs17855317</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=25800;ExAC.Info.AN=125556;ExAC.Info.AF=0.205;ExAC.Info.AC_Het=19151;ExAC.Info.AC_Hom=3236;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr1424Thr/c.4272T>C;snpeff.Amino_Acid_length=1798;snpeff.Gene_Name=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361297;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361297;SAVANT_GENE=MAST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2" target="_blank">MAST2</a>;SAVANT_INFO=+/232.5kb/29/5.7kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.4272T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAST2+c.4272T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46500613">View</a>	GT:AD:DP:GQ:PL:TP	0|0:131,0:131:99:0,393,4388:127	0|0:138,0:138:99:0,414,4771:127	0|1:52,56:108:99:1589,0,1459:127
1	46521517	.	G	A	5486.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs785468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=785468" target="_blank">rs785468</a>;ExAC.Info.AC=86270;ExAC.Info.AN=126696;ExAC.Info.AF=0.681;ExAC.Info.AC_Het=27029;ExAC.Info.AC_Hom=29525;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser343Ser/c.1029C>T;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=PIK3R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3R3" target="_blank">PIK3R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540385;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262741;SAVANT_GENE=PIK3R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3R3" target="_blank">PIK3R3</a>;SAVANT_INFO=-/92.5kb/10/5.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.891C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3R3+c.891C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46521517">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,330,3877:127	0|1:59,57:116:99:1599,0,1869:127	0|1:60,44:104:99:1164,0,1735:127
1	46521559	.	A	T	6316.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs785467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=785467" target="_blank">rs785467</a>;ExAC.Info.AC=87968;ExAC.Info.AN=126704;ExAC.Info.AF=0.694;ExAC.Info.AC_Het=26513;ExAC.Info.AC_Hom=30701;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaT/aaA;snpeff.Amino_Acid_Change=p.Asn329Lys/c.987T>A;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=PIK3R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3R3" target="_blank">PIK3R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540385;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262741;SAVANT_GENE=PIK3R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3R3" target="_blank">PIK3R3</a>;SAVANT_INFO=-/92.5kb/10/5.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.849T>A_p.Asn283Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3R3+c.849T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46521559">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,331,3587:127	0|1:68,66:134:99:1872,0,1988:127	0|1:68,49:117:99:1306,0,2009:127
1	46598269	.	C	A	798.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1707304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1707304" target="_blank">rs1707304</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.244+43631G>T;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=PIK3R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3R3" target="_blank">PIK3R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540385;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262741;SAVANT_GENE=PIK3R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3R3" target="_blank">PIK3R3</a>;SAVANT_INFO=-/92.5kb/10/5.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-645G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3R3+c.-645G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46598269">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:84:0,84,1769:56	0|1:7,16:23:99:418,0,331:56	0|0:19,0:19:57:0,57,1064:56
1	46598273	.	A	C	1782.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1707303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1707303" target="_blank">rs1707303</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.244+43627T>G;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=PIK3R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3R3" target="_blank">PIK3R3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540385;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262741;SAVANT_GENE=PIK3R3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3R3" target="_blank">PIK3R3</a>;SAVANT_INFO=-/92.5kb/10/5.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-649T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3R3+c.-649T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46598273">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:83:0,83,844:82	0|1:6,16:22:99:642,0,106:82	0|1:13,8:21:99:269,0,359:82
1	46655158	.	T	C	41330.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=505;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)|_type_A|_3|_253280_(3)|_Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)|_type_B|_3|_613151_(3)|_Muscular_dystrophy-dystroglycanopathy_(limb-girdle)|_type_C|_3|_613157_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)|_type_A|_3|_253280_(3)|_Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)|_type_B|_3|_613151_(3)|_Muscular_dystrophy-dystroglycanopathy_(limb-girdle)|_type_C|_3|_613157_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6659553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6659553" target="_blank">rs6659553</a>;ExAC.Info.AC=124631;ExAC.Info.AN=126688;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=1645;ExAC.Info.AC_Hom=61007;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867A>G;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=POMGNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POMGNT1" target="_blank">POMGNT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371986;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met623Val/c.1867A>G;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=POMGNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POMGNT1" target="_blank">POMGNT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371986;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371984;SAVANT_GENE=POMGNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POMGNT1" target="_blank">POMGNT1</a>;SAVANT_INFO=-/9.8kb/22/2.7kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.1867A>G_p.Met623Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POMGNT1+c.1867A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46655158">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,139:139:99:4760,418,0:127	1|1:0,211:211:99:7224,634,0:127	1|1:0,155:155:99:5685,466,0:127
1	46657651	.	T	C	24456.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)|_type_A|_3|_253280_(3)|_Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)|_type_B|_3|_613151_(3)|_Muscular_dystrophy-dystroglycanopathy_(limb-girdle)|_type_C|_3|_613157_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)|_type_A|_3|_253280_(3)|_Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)|_type_B|_3|_613151_(3)|_Muscular_dystrophy-dystroglycanopathy_(limb-girdle)|_type_C|_3|_613157_(3);dbSNP139.ID=rs7521880;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7521880" target="_blank">rs7521880</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1539+119A>G;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=POMGNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POMGNT1" target="_blank">POMGNT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371986;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371984;SAVANT_GENE=POMGNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POMGNT1" target="_blank">POMGNT1</a>;SAVANT_INFO=-/9.8kb/22/2.7kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1539+119A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POMGNT1+c.1539+119A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46657651">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,99:99:99:3647,298,0:127	1|1:0,133:133:99:5014,400,0:127	1|0:59,69:128:99:2136,0,1702:127
1	46658328	.	A	G	5596.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=58;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)|_type_A|_3|_253280_(3)|_Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)|_type_B|_3|_613151_(3)|_Muscular_dystrophy-dystroglycanopathy_(limb-girdle)|_type_C|_3|_613157_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)|_type_A|_3|_253280_(3)|_Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)|_type_B|_3|_613151_(3)|_Muscular_dystrophy-dystroglycanopathy_(limb-girdle)|_type_C|_3|_613157_(3);dbSNP139.ID=rs2292484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292484" target="_blank">rs2292484</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1212-66T>C;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=POMGNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POMGNT1" target="_blank">POMGNT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371986;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371984;SAVANT_GENE=POMGNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POMGNT1" target="_blank">POMGNT1</a>;SAVANT_INFO=-/9.8kb/22/2.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1212-66T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POMGNT1+c.1212-66T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46658328">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,14:14:42:617,42,0:41	1|1:0,22:22:66:950,66,0:41	1|0:15,7:22:99:239,0,981:41
1	46659363	.	T	C	22391.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)|_type_A|_3|_253280_(3)|_Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)|_type_B|_3|_613151_(3)|_Muscular_dystrophy-dystroglycanopathy_(limb-girdle)|_type_C|_3|_613157_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)|_type_A|_3|_253280_(3)|_Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)|_type_B|_3|_613151_(3)|_Muscular_dystrophy-dystroglycanopathy_(limb-girdle)|_type_C|_3|_613157_(3);dbSNP139.ID=rs7527935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7527935" target="_blank">rs7527935</a>;ExAC.Info.AC=44352;ExAC.Info.AN=126554;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=26913;ExAC.Info.AC_Hom=7680;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.951-52A>G;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=POMGNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POMGNT1" target="_blank">POMGNT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371986;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371984;SAVANT_GENE=POMGNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POMGNT1" target="_blank">POMGNT1</a>;SAVANT_INFO=-/9.8kb/22/2.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.951-52A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POMGNT1+c.951-52A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46659363">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:3501,274,0:127	1|1:0,111:111:99:4225,332,0:127	1|0:53,44:97:99:1347,0,1444:127
1	46660295	.	T	C	57804.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=895;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)|_type_A|_3|_253280_(3)|_Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)|_type_B|_3|_613151_(3)|_Muscular_dystrophy-dystroglycanopathy_(limb-girdle)|_type_C|_3|_613157_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)|_type_A|_3|_253280_(3)|_Muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation)|_type_B|_3|_613151_(3)|_Muscular_dystrophy-dystroglycanopathy_(limb-girdle)|_type_C|_3|_613157_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2292487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292487" target="_blank">rs2292487</a>;ExAC.Info.AC=44880;ExAC.Info.AN=126704;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=28038;ExAC.Info.AC_Hom=8418;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000081805;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys227Lys/c.681A>G;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=POMGNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POMGNT1" target="_blank">POMGNT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371986;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371984;SAVANT_GENE=POMGNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POMGNT1" target="_blank">POMGNT1</a>;SAVANT_INFO=-/9.8kb/22/2.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.681A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POMGNT1+c.681A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46660295">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081805" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,307:307:99:10729,922,0:127	1|1:0,341:341:99:12118,1024,0:127	1|0:135,112:247:99:3065,0,3697:127
1	46806480	.	C	T	826.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17361749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17361749" target="_blank">rs17361749</a>;ExAC.Info.AC=26252;ExAC.Info.AN=126320;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=16759;ExAC.Info.AC_Hom=2828;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=19;snpeff.Amino_Acid_Change=c.-19C>T;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=NSUN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN4" target="_blank">NSUN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000474844;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000474844;SAVANT_GENE=NSUN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN4" target="_blank">NSUN4</a>;SAVANT_INFO=+/22.0kb/6/2.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-19C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSUN4+c.-19C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46806480">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,1150:83	0|0:40,0:40:99:0,120,1533:83	0|1:12,14:26:99:432,0,398:83
1	46806550	.	C	T	1312.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41293277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41293277" target="_blank">rs41293277</a>;ExAC.Info.AC=27398;ExAC.Info.AN=126666;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=19708;ExAC.Info.AC_Hom=3520;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.52C>T;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=NSUN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN4" target="_blank">NSUN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000474844;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu18Phe/c.52C>T;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=NSUN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN4" target="_blank">NSUN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000474844;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000474844;SAVANT_GENE=NSUN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN4" target="_blank">NSUN4</a>;SAVANT_INFO=+/22.0kb/6/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.52C>T_p.Leu18Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSUN4+c.52C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46806550">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1946:127	0|0:62,0:62:99:0,186,2210:127	0|1:28,25:53:99:675,0,838:127
1	46810670	.	T	C	4640.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=550;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17361763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17361763" target="_blank">rs17361763</a>;ExAC.Info.AC=27755;ExAC.Info.AN=126704;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=20265;ExAC.Info.AC_Hom=3743;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp97Asp/c.291T>C;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=NSUN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN4" target="_blank">NSUN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000474844;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000474844;SAVANT_GENE=NSUN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN4" target="_blank">NSUN4</a>;SAVANT_INFO=+/22.0kb/6/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.291T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSUN4+c.291T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46810670">View</a>	GT:AD:DP:GQ:PL:TP	0|0:155,0:155:99:0,465,5318:127	0|0:216,0:216:99:0,649,7350:127	0|1:104,75:179:99:2339,0,3081:127
1	46812519	.	A	G	604.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17361791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17361791" target="_blank">rs17361791</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.438-74A>G;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=NSUN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN4" target="_blank">NSUN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000474844;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000474844;SAVANT_GENE=NSUN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN4" target="_blank">NSUN4</a>;SAVANT_INFO=+/22.0kb/6/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.438-74A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSUN4+c.438-74A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46812519">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1092:95	0|0:38,0:38:99:0,114,1340:95	0|1:22,10:32:99:321,0,605:95
1	46827485	.	C	T	1578.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1053624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1053624" target="_blank">rs1053624</a>;ExAC.Info.AC=27735;ExAC.Info.AN=126688;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=20251;ExAC.Info.AC_Hom=3728;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro374Pro/c.1122C>T;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=NSUN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN4" target="_blank">NSUN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000474844;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000474844;SAVANT_GENE=NSUN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN4" target="_blank">NSUN4</a>;SAVANT_INFO=+/22.0kb/6/2.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1122C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSUN4+c.1122C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46827485">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2319:127	0|0:84,0:84:99:0,253,3147:127	0|1:36,32:68:99:808,0,1019:127
1	46860237	.	G	A	1122.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72890727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72890727" target="_blank">rs72890727</a>;ExAC.Info.AC=2190;ExAC.Info.AN=26696;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=202;ExAC.Info.AC_Hom=40;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.195+22G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000243167;SAVANT_GENE=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;SAVANT_INFO=+/19.6kb/15/2.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.195+22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAAH+c.195+22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46860237">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,981:77	0|0:31,0:31:93:0,93,1273:77	0|1:11,19:30:99:580,0,370:77
1	46870761	.	C	A	33596.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=709;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs324420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=324420" target="_blank">rs324420</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Drug/alcohol_abuse|_association_with;hgmd_2014.2.OMIM_ID=602935;hgmd_2014.2.PubMed=12060782;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12060782" target="_blank">12060782</a>;ExAC.Info.AC=29582;ExAC.Info.AN=126700;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=21962;ExAC.Info.AC_Hom=3771;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000007116;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Aca;snpeff.Amino_Acid_Change=p.Pro129Thr/c.385C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000243167;SAVANT_GENE=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;SAVANT_INFO=+/19.6kb/15/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.385C>A_p.Pro129Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAAH+c.385C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46870761">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007116" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,191:191:99:6272,573,0:127	1|0:124,141:265:99:3924,0,3290:127	1|0:129,124:253:99:3334,0,3599:127
1	46871986	.	T	C	20376.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs324419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=324419" target="_blank">rs324419</a>;ExAC.Info.AC=109052;ExAC.Info.AN=126700;ExAC.Info.AF=0.861;ExAC.Info.AC_Het=14652;ExAC.Info.AC_Hom=47097;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys299Cys/c.897T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000243167;SAVANT_GENE=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;SAVANT_INFO=+/19.6kb/15/2.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.897T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAAH+c.897T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46871986">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2640,225,0:127	1|0:56,51:107:99:1388,0,1601:127	1|1:0,91:91:99:3120,273,0:127
1	46874279	.	G	A	20543.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs45497198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45497198" target="_blank">rs45497198</a>;ExAC.Info.AC=2219;ExAC.Info.AN=126704;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2176;ExAC.Info.AC_Hom=21;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1077+23G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000243167;SAVANT_GENE=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;SAVANT_INFO=+/19.6kb/15/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1077+23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAAH+c.1077+23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46874279">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:3859,351,0:127	1|0:79,69:148:99:1937,0,2428:127	1|0:62,52:114:99:1473,0,1820:127
1	46874383	.	A	G	2740.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2295633;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295633" target="_blank">rs2295633</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1077+127A>G;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078A>G;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078A>G;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078A>G;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078A>G;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078A>G;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078A>G;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078A>G;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078A>G;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078A>G;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1078A>G;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000243167;SAVANT_GENE=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;SAVANT_INFO=+/19.6kb/15/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1077+127A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAAH+c.1077+127A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46874383">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,336,3414:127	0|0:133,0:133:99:0,399,4241:127	0|1:55,52:107:99:1389,0,1461:127
1	46877180	.	G	A	3462.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6662982;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6662982" target="_blank">rs6662982</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1317-104G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1317G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1317G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1317G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1317G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1317G>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243167;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000243167;SAVANT_GENE=FAAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH" target="_blank">FAAH</a>;SAVANT_INFO=+/19.6kb/15/2.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1317-104G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAAH+c.1317-104G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46877180">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,292,3472:127	0|0:101,0:101:99:0,303,3727:127	0|1:44,60:104:99:1750,0,1311:127
1	46976717	.	C	T	11750.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12045245;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12045245" target="_blank">rs12045245</a>;ExAC.Info.AC=27487;ExAC.Info.AN=126694;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=20532;ExAC.Info.AC_Hom=3431;snpeff.Effect=sequence_feature[interacting_region:Interacts_with_OXT2_and_is_required_for_repressor_activity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=DMBX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBX1" target="_blank">DMBX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371956;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interacts_with_OXT2_and_is_required_for_repressor_activity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=DMBX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBX1" target="_blank">DMBX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371956;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interacts_with_OXT2_and_is_required_for_repressor_activity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459C>T;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=DMBX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBX1" target="_blank">DMBX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371956;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala153Ala/c.459C>T;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=DMBX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBX1" target="_blank">DMBX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371956;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360032;SAVANT_GENE=DMBX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBX1" target="_blank">DMBX1</a>;SAVANT_INFO=+/7.2kb/4/2.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.444C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBX1+c.444C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:46976717">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2137,189,0:127	1|0:40,43:83:99:1284,0,1138:127	1|0:29,23:52:99:586,0,887:127
1	47013180	.	A	G	21242.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10890404;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10890404" target="_blank">rs10890404</a>;ExAC.Info.AC=16835;ExAC.Info.AN=28212;ExAC.Info.AF=0.597;ExAC.Info.AC_Het=5084;ExAC.Info.AC_Hom=4738;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.254+3740A>G;snpeff.Gene_Name=MKNK1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1-AS1" target="_blank">MKNK1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=222;snpeff.Amino_Acid_Change=c.*222T>C;snpeff.Amino_Acid_length=124;snpeff.Gene_Name=KNCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1-AS1" target="_blank">MKNK1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000481882;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396314;SAVANT_GENE=KNCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNCN" target="_blank">KNCN</a>;SAVANT_INFO=-/3.8kb/3/0.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*222T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNCN+c.*222T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47013180">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:3000,255,0:127	1|1:0,94:94:99:3200,281,0:127	1|0:47,44:91:99:1269,0,1317:127
1	47013364	.	T	C	8364.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1258041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1258041" target="_blank">rs1258041</a>;ExAC.Info.AC=75335;ExAC.Info.AN=79862;ExAC.Info.AF=0.943;ExAC.Info.AC_Het=824;ExAC.Info.AC_Hom=9691;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.254+3924T>C;snpeff.Gene_Name=MKNK1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1-AS1" target="_blank">MKNK1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=38;snpeff.Amino_Acid_Change=c.*38A>G;snpeff.Amino_Acid_length=124;snpeff.Gene_Name=KNCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1-AS1" target="_blank">MKNK1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000481882;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396314;SAVANT_GENE=KNCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNCN" target="_blank">KNCN</a>;SAVANT_INFO=-/3.8kb/3/0.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*38A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNCN+c.*38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47013364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1034,87,0:98	1|1:0,36:36:99:1274,108,0:98	1|1:0,33:33:99:1163,99,0:98
1	47014821	.	A	AAAAAG	15822.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=171;MQ=72.32;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;ExAC.Info.AC=74927;ExAC.Info.AN=123890;ExAC.Info.AF=0.605;ExAC.Info.AC_Het=20411;ExAC.Info.AC_Hom=14403;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.295+44_295+43insCTTTT;snpeff.Amino_Acid_length=124;snpeff.Gene_Name=KNCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNCN" target="_blank">KNCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000481882;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.254+5382_254+5383insAAAAG;snpeff.Gene_Name=MKNK1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNCN" target="_blank">KNCN</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000396314;SAVANT_GENE=KNCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNCN" target="_blank">KNCN</a>;SAVANT_INFO=-/3.8kb/3/0.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.226+39_226+43dup5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNCN+c.226+39_226+43dup5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47014821">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2290,170,0:127	1|1:0,66:66:99:2765,206,0:127	1|0:20,29:49:99:1066,0,732:127
1	47016761	.	C	T	1392.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61997191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61997191" target="_blank">rs61997191</a>;ExAC.Info.AC=5628;ExAC.Info.AN=125488;ExAC.Info.AF=0.045;ExAC.Info.AC_Het=5214;ExAC.Info.AC_Hom=202;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.255-7136C>T;snpeff.Gene_Name=MKNK1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1-AS1" target="_blank">MKNK1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>T;snpeff.Amino_Acid_length=124;snpeff.Gene_Name=KNCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1-AS1" target="_blank">MKNK1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000481882;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>T;snpeff.Amino_Acid_length=124;snpeff.Gene_Name=KNCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1-AS1" target="_blank">MKNK1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000481882;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val43Ile/c.127G>A;snpeff.Amino_Acid_length=124;snpeff.Gene_Name=KNCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1-AS1" target="_blank">MKNK1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000481882;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396314;SAVANT_GENE=KNCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNCN" target="_blank">KNCN</a>;SAVANT_INFO=-/3.8kb/3/0.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.127G>A_p.Val43Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNCN+c.127G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47016761">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1837:127	0|0:66,0:66:99:0,198,2300:127	0|1:29,26:55:99:715,0,850:127
1	47025839	.	GC	G	949.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3831020;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3831020" target="_blank">rs3831020</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.514+357delC;snpeff.Gene_Name=MKNK1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1-AS1" target="_blank">MKNK1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602433;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1172+66delG;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=MKNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1-AS1" target="_blank">MKNK1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371946;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371946;SAVANT_GENE=MKNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1" target="_blank">MKNK1</a>;SAVANT_INFO=-/46.8kb/14/2.7kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1172+66delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKNK1+c.1172+66delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47025839">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1105:101	0|0:47,0:47:99:0,141,1522:101	0|1:22,19:41:99:498,0,593:101
1	47059934	.	T	C	41038.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=535;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1258021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1258021" target="_blank">rs1258021</a>;ExAC.Info.AC=125016;ExAC.Info.AN=125312;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=195;ExAC.Info.AC_Hom=52765;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=116;snpeff.Amino_Acid_Change=c.-116A>G;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=MKNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1" target="_blank">MKNK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371946;SAVANT_GENE=MKNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1" target="_blank">MKNK1</a>;SAVANT_INFO=-/46.8kb/14/2.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-116A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKNK1+c.-116A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47059934">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,175:175:99:5826,525,0:127	1|1:0,196:196:99:6614,589,0:127	1|1:0,164:164:99:5456,492,0:127
1	47078637	.	T	C	36256.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=423;MQ=69.96;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4660947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4660947" target="_blank">rs4660947</a>;ExAC.Info.AC=73667;ExAC.Info.AN=126486;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=27714;ExAC.Info.AC_Hom=22218;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MKNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1" target="_blank">MKNK1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala171Ala/c.513A>G;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=MOB3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1" target="_blank">MKNK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271139;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271139;SAVANT_GENE=MOB3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB3C" target="_blank">MOB3C</a>;SAVANT_INFO=-/7.4kb/4/2.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.513A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOB3C+c.513A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47078637">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4279,375,0:127	1|1:0,175:175:99:6165,526,0:127	1|1:0,123:123:99:4536,369,0:127
1	47080665	.	C	T	34654.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=563;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11211328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11211328" target="_blank">rs11211328</a>;ExAC.Info.AC=32358;ExAC.Info.AN=126704;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=23926;ExAC.Info.AC_Hom=4189;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MKNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1" target="_blank">MKNK1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atA;snpeff.Amino_Acid_Change=p.Met28Ile/c.84G>A;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=MOB3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1" target="_blank">MKNK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271139;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271139;SAVANT_GENE=MOB3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB3C" target="_blank">MOB3C</a>;SAVANT_INFO=-/7.4kb/4/2.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.84G>A_p.Met28Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOB3C+c.84G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47080665">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,186:186:99:5826,559,0:127	1|1:0,185:185:99:6125,556,0:127	1|0:112,80:192:99:2169,0,3412:127
1	47080679	.	G	A	32519.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=518;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs6671527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6671527" target="_blank">rs6671527</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=22865819;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=22865819" target="_blank">22865819</a>;ExAC.Info.AC=70553;ExAC.Info.AN=126704;ExAC.Info.AF=0.557;ExAC.Info.AC_Het=28875;ExAC.Info.AC_Hom=20820;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MKNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1" target="_blank">MKNK1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cga/Tga;snpeff.Amino_Acid_Change=p.Arg24*/c.70C>T;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=MOB3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1" target="_blank">MKNK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271139;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(MOB3C|ENSG00000142961|1|1.00);NMD=(MOB3C|ENSG00000142961|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000271139;SAVANT_GENE=MOB3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB3C" target="_blank">MOB3C</a>;SAVANT_INFO=-/7.4kb/4/2.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.70C>T_p.Arg24X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOB3C+c.70C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47080679">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,163:163:99:5269,490,0:127	1|1:0,178:178:99:5985,535,0:127	1|0:102,75:177:99:1986,0,2912:127
1	47080741	.	C	T	16233.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12029680;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12029680" target="_blank">rs12029680</a>;ExAC.Info.AC=35231;ExAC.Info.AN=126704;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=24619;ExAC.Info.AC_Hom=5272;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MKNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1" target="_blank">MKNK1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg3His/c.8G>A;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=MOB3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKNK1" target="_blank">MKNK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271139;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271139;SAVANT_GENE=MOB3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB3C" target="_blank">MOB3C</a>;SAVANT_INFO=-/7.4kb/4/2.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.8G>A_p.Arg3His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOB3C+c.8G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47080741">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2228,183,0:127	1|1:0,89:89:99:3277,268,0:127	1|0:54,36:90:99:1030,0,1576:127
1	47110766	.	G	GC	6634.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3215990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215990" target="_blank">rs3215990</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.753+67_753+66insG;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=ATPAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPAF1" target="_blank">ATPAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000576409;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371937;SAVANT_GENE=ATPAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPAF1" target="_blank">ATPAF1</a>;SAVANT_INFO=-/35.6kb/9/4.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.684+66dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATPAF1+c.684+66dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47110766">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:671,57,0:74	1|1:0,25:25:78:968,78,0:74	1|1:0,26:26:78:972,78,0:74
1	47119581	.	C	G	1166.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72679900;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72679900" target="_blank">rs72679900</a>;ExAC.Info.AC=2;ExAC.Info.AN=126686;ExAC.Info.AF=1.579e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.559-42G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=ATPAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPAF1" target="_blank">ATPAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000576409;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371937;SAVANT_GENE=ATPAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPAF1" target="_blank">ATPAF1</a>;SAVANT_INFO=-/35.6kb/9/4.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.490-42G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATPAF1+c.490-42G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47119581">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2458:127	0|0:73,0:73:99:0,219,2673:127	0|1:26,21:47:99:602,0,816:127
1	47133811	.	T	C	344.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11211337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11211337" target="_blank">rs11211337</a>;ExAC.Info.AC=11324;ExAC.Info.AN=17628;ExAC.Info.AF=0.642;ExAC.Info.AC_Het=1548;ExAC.Info.AC_Hom=2119;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EFCAB14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB14" target="_blank">EFCAB14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser85Gly/c.253A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=ATPAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB14" target="_blank">EFCAB14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000576409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371937;SAVANT_GENE=ATPAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATPAF1" target="_blank">ATPAF1</a>;SAVANT_INFO=-/35.6kb/9/4.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.184A>G_p.Ser62Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATPAF1+c.184A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47133811">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,621:59	0|0:29,0:29:87:0,87,937:59	0|1:13,7:20:99:191,0,400:59
1	47276728	.	G	C	12175.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2297812;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297812" target="_blank">rs2297812</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.323-84G>C;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=CYP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4B1" target="_blank">CYP4B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371923;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371923;SAVANT_GENE=CYP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4B1" target="_blank">CYP4B1</a>;SAVANT_INFO=+/20.3kb/12/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.323-84G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4B1+c.323-84G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47276728">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2555,204,0:127	1|0:42,36:78:99:1175,0,1379:127	1|0:20,35:55:99:1052,0,628:127
1	47280746	.	GAT	G	15380.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3215983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215983" target="_blank">rs3215983</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=CYP4B1_null_allele;hgmd_2014.2.OMIM_ID=124075;hgmd_2014.2.PubMed=12142726;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12142726" target="_blank">12142726</a>;ExAC.Info.AC=18749;ExAC.Info.AN=126700;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=15802;ExAC.Info.AC_Hom=1411;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.884_885delAT;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=CYP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4B1" target="_blank">CYP4B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371923;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=gat/;snpeff.Amino_Acid_Change=p.Asp295fs/c.884_885delAT;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=CYP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4B1" target="_blank">CYP4B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371923;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;LOF=(CYP4B1|ENSG00000142973|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000371923;SAVANT_GENE=CYP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4B1" target="_blank">CYP4B1</a>;SAVANT_INFO=+/20.3kb/12/2.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.884_885delAT;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4B1+c.884_885delAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47280746">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:3336,226,0:127	1|0:39,39:78:99:1500,0,1520:127	1|0:28,25:53:99:966,0,1100:127
1	47280859	.	G	A	9022.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2297810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297810" target="_blank">rs2297810</a>;ExAC.Info.AC=24161;ExAC.Info.AN=126682;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=18575;ExAC.Info.AC_Hom=2759;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atA;snpeff.Amino_Acid_Change=p.Met332Ile/c.996G>A;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=CYP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4B1" target="_blank">CYP4B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371923;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371923;SAVANT_GENE=CYP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4B1" target="_blank">CYP4B1</a>;SAVANT_INFO=+/20.3kb/12/2.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.996G>A_p.Met332Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4B1+c.996G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47280859">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2065,180,0:127	1|0:24,26:50:99:798,0,672:127	1|0:21,20:41:99:664,0,625:127
1	47280884	.	C	T	7870.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D|T|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4646491;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4646491" target="_blank">rs4646491</a>;ExAC.Info.AC=18823;ExAC.Info.AN=126656;ExAC.Info.AF=0.149;ExAC.Info.AC_Het=15625;ExAC.Info.AC_Hom=1534;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg341Cys/c.1021C>T;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=CYP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4B1" target="_blank">CYP4B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371923;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371923;SAVANT_GENE=CYP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4B1" target="_blank">CYP4B1</a>;SAVANT_INFO=+/20.3kb/12/2.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1021C>T_p.Arg341Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4B1+c.1021C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47280884">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1708,147,0:127	1|0:20,21:41:99:538,0,517:127	1|0:21,24:45:99:693,0,570:127
1	47282772	.	C	T	28444.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=490;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2297809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297809" target="_blank">rs2297809</a>;ExAC.Info.AC=19681;ExAC.Info.AN=126704;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=16437;ExAC.Info.AC_Hom=1621;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg376Cys/c.1126C>T;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=CYP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4B1" target="_blank">CYP4B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371923;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371923;SAVANT_GENE=CYP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4B1" target="_blank">CYP4B1</a>;SAVANT_INFO=+/20.3kb/12/2.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1126C>T_p.Arg376Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4B1+c.1126C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47282772">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,146:146:99:4811,441,0:127	1|0:76,95:171:99:2624,0,2072:127	1|0:79,94:173:99:2671,0,1994:127
1	47366050	.	G	T	3245.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=181;MQ=64.28;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12032026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12032026" target="_blank">rs12032026</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57C>A;snpeff.Gene_Name=CYP4Z2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z2P" target="_blank">CYP4Z2P</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000423332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z2P" target="_blank">CYP4Z2P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4Z2P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47366050">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,22:56:99:484,0,1115:127	0|0:69,0:69:99:0,207,2585:127	1|0:31,25:56:99:714,0,930:127
1	47395973	.	G	A	6236.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=168;MQ=69.84;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1126743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1126743" target="_blank">rs1126743</a>;ExAC.Info.AC=88967;ExAC.Info.AN=126696;ExAC.Info.AF=0.702;ExAC.Info.AC_Het=24441;ExAC.Info.AC_Hom=32175;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile459Ile/c.1377C>T;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371904;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310638;SAVANT_GENE=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;SAVANT_INFO=-/12.3kb/12/2.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1374C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A11+c.1374C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47395973">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,21:50:99:616,0,951:127	0/1:28,28:56:99:910,0,870:127	0/1:31,31:62:99:881,0,958:127
1	47398496	.	A	G	3606.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=315;MQ=67.84;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1126742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1126742" target="_blank">rs1126742</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Essential_hypertension|_association_with;hgmd_2014.2.OMIM_ID=601310;hgmd_2014.2.PubMed=15611369;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15611369" target="_blank">15611369</a>;ExAC.Info.AC=22285;ExAC.Info.AN=126704;ExAC.Info.AF=0.176;ExAC.Info.AC_Het=17723;ExAC.Info.AC_Hom=2279;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tCc;snpeff.Amino_Acid_Change=p.Phe435Ser/c.1304T>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371904;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310638;SAVANT_GENE=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;SAVANT_INFO=-/12.3kb/12/2.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1301T>C_p.Phe434Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A11+c.1301T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47398496">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,268,3018:127	0|1:59,57:116:99:1822,0,1706:127	0|0:110,0:110:99:0,330,3634:127
1	47398743	.	G	C	8393.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3890011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3890011" target="_blank">rs3890011</a>;ExAC.Info.AC=88980;ExAC.Info.AN=126690;ExAC.Info.AF=0.702;ExAC.Info.AC_Het=24454;ExAC.Info.AC_Hom=32201;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1226-24C>G;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371904;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310638;SAVANT_GENE=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;SAVANT_INFO=-/12.3kb/12/2.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1223-24C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A11+c.1223-24C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47398743">View</a>	GT:AD:DP:GQ:PL:TP	0/1:40,27:67:99:680,0,1253:127	0/1:48,45:93:99:1338,0,1500:127	0/1:42,37:79:99:1075,0,1222:127
1	47399967	.	G	A	4046.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=114;MQ=56.91;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs28451040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28451040" target="_blank">rs28451040</a>;ExAC.Info.AC=36369;ExAC.Info.AN=126648;ExAC.Info.AF=0.287;ExAC.Info.AC_Het=24334;ExAC.Info.AC_Hom=5754;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His324His/c.972C>T;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371904;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310638;SAVANT_GENE=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;SAVANT_INFO=-/12.3kb/12/2.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.969C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A11+c.969C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47399967">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,17:40:99:462,0,741:127	0/1:22,18:40:99:554,0,605:127	0/1:7,27:34:99:864,0,170:127
1	47400059	.	A	G	18543.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=223;MQ=35.58;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs71500102;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71500102" target="_blank">rs71500102</a>;ExAC.Info.AC=125328;ExAC.Info.AN=126294;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=633;ExAC.Info.AC_Hom=56469;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.901-21T>C;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371904;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310638;SAVANT_GENE=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;SAVANT_INFO=-/12.3kb/12/2.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.898-21T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A11+c.898-21T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47400059">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2336,196,0:127	1|1:0,82:82:99:2909,247,0:127	1|1:0,76:76:99:2658,229,0:127
1	47403812	.	G	C	2614.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs201366365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201366365" target="_blank">rs201366365</a>;ExAC.Info.AC=1;ExAC.Info.AN=126700;ExAC.Info.AF=7.893e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.196-3C>G;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371904;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196C>G;snpeff.Amino_Acid_length=520;snpeff.Gene_Name=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371904;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310638;SAVANT_GENE=CYP4A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A11" target="_blank">CYP4A11</a>;SAVANT_INFO=-/12.3kb/12/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.196-3C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A11+c.196-3C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47403812">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,318,3699:127	0|1:65,51:116:99:1326,0,1806:127	0|0:94,0:94:99:0,282,3092:127
1	47495822	.	C	T	7490.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12141009;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12141009" target="_blank">rs12141009</a>;ExAC.Info.AC=40315;ExAC.Info.AN=126680;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=24739;ExAC.Info.AC_Hom=7737;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.319+19C>T;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=CYP4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4X1" target="_blank">CYP4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371901;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371901;SAVANT_GENE=CYP4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4X1" target="_blank">CYP4X1</a>;SAVANT_INFO=+/27.2kb/12/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.319+19C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4X1+c.319+19C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47495822">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,54:121:99:1566,0,1954:127	0|0:121,0:121:99:0,364,4555:127	1|0:55,51:106:99:1392,0,1760:127
1	47571902	.	C	T	12595.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=432;MQ=67.76;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4926802;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4926802" target="_blank">rs4926802</a>;ExAC.Info.AC=54436;ExAC.Info.AN=126694;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=31290;ExAC.Info.AC_Hom=11195;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.397-9053G>A;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile390Ile/c.1170C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334194;SAVANT_GENE=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;SAVANT_INFO=+/50.8kb/12/1.9kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1170C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4Z1+c.1170C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47571902">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,52:123:99:2045,0,2157:127	0|0:186,0:186:99:0,558,6810:127	1|0:54,69:123:99:2738,0,1705:127
1	47571905	.	C	T	9475.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=440;MQ=67.75;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs28463559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28463559" target="_blank">rs28463559</a>;ExAC.Info.AC=54128;ExAC.Info.AN=126694;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=31283;ExAC.Info.AC_Hom=11041;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.397-9056G>A;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr391Thr/c.1173C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334194;SAVANT_GENE=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;SAVANT_INFO=+/50.8kb/12/1.9kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1173C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4Z1+c.1173C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47571905">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,56:129:99:1553,0,2839:127	0|0:187,0:187:99:0,569,8333:127	1|0:54,70:124:99:2094,0,2056:127
1	47571943	.	CTTT	C	9403.95	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=303;MQ=68.45;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;dbSNP139.ID=rs149137568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149137568" target="_blank">rs149137568</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1201+11_1201+13delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.397-9097_397-9095delAAA;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1204delTTT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000334194;SAVANT_GENE=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;SAVANT_INFO=+/50.8kb/12/1.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1201+24_1201+26delTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4Z1+c.1201+24_1201+26delTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47571943">View</a>	GT:AD:DP:GQ:PL	0/1:43,53:100:99:1781,0,1271	./0:73,4:108:99:367,763,5032	0/1:36,54:95:99:1628,0,1277
1	47571943	.	CTTT	CTTTT	9403.95	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=303;MQ=68.45;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1201+14_1201+15insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.397-9097_397-9098insA;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1202_1203insT;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000334194;SAVANT_GENE=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;SAVANT_INFO=+/50.8kb/12/1.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1201+26dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4Z1+c.1201+26dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47571943">View</a>	GT:AD:DP:GQ:PL	./0:43,4:100:99:1781,1835,2444	0/1:73,31:108:99:367,0,1205	./0:36,5:95:99:1628,1644,2251
1	47582292	.	T	G	2521.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=121;MQ=68.89;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10890465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10890465" target="_blank">rs10890465</a>;ExAC.Info.AC=58118;ExAC.Info.AN=126478;ExAC.Info.AF=0.460;ExAC.Info.AC_Het=26490;ExAC.Info.AC_Hom=14768;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1267-30T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.397-19443A>C;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267T>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334194;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334194;SAVANT_GENE=CYP4Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4Z1" target="_blank">CYP4Z1</a>;SAVANT_INFO=+/50.8kb/12/1.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1267-30T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4Z1+c.1267-30T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47582292">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,26:45:99:718,0,447:123	0|0:41,0:41:99:0,123,1439:123	1|0:19,16:35:99:475,0,479:123
1	47607851	.	A	T	6998.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=292;MQ=69.04;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2056899;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2056899" target="_blank">rs2056899</a>;ExAC.Info.AC=67029;ExAC.Info.AN=126702;ExAC.Info.AF=0.529;ExAC.Info.AC_Het=26332;ExAC.Info.AC_Hom=20272;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.396+34856T>A;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Tat;snpeff.Amino_Acid_Change=p.Asn152Tyr/c.454A>T;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371891;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371891;SAVANT_GENE=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22" target="_blank">CYP4A22</a>;SAVANT_INFO=+/12.3kb/12/2.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.454A>T_p.Asn152Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A22+c.454A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47607851">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,44:93:99:1227,0,1242:127	0|0:109,0:109:99:0,328,3789:127	1|0:36,54:90:99:1559,0,1007:127
1	47609091	.	G	A	1514.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=94;MQ=41.05;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs146396590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146396590" target="_blank">rs146396590</a>;ExAC.Info.AC=19282;ExAC.Info.AN=126262;ExAC.Info.AF=0.153;ExAC.Info.AC_Het=15247;ExAC.Info.AC_Hom=1676;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.635+26G>A;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22" target="_blank">CYP4A22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371891;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.396+33616C>T;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22" target="_blank">CYP4A22</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371891;SAVANT_GENE=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22" target="_blank">CYP4A22</a>;SAVANT_INFO=+/12.3kb/12/2.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.635+26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A22+c.635+26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47609091">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,18:30:99:548,0,330:127	0|0:46,0:46:99:0,138,1468:127	1|0:14,4:18:96:96,0,380:127
1	47609489	.	T	C	10285.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10789501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10789501" target="_blank">rs10789501</a>;ExAC.Info.AC=57462;ExAC.Info.AN=126704;ExAC.Info.AF=0.454;ExAC.Info.AC_Het=27429;ExAC.Info.AC_Hom=15012;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.396+33218A>G;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys231Arg/c.691T>C;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371891;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371891;SAVANT_GENE=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22" target="_blank">CYP4A22</a>;SAVANT_INFO=+/12.3kb/12/2.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.691T>C_p.Cys231Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A22+c.691T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47609489">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,61:134:99:1692,0,2153:127	0|0:149,0:149:99:0,448,5288:127	1|0:60,72:132:99:2188,0,1697:127
1	47609668	.	T	C	5964.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs911909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=911909" target="_blank">rs911909</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.790+80T>C;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22" target="_blank">CYP4A22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371891;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.396+33039A>G;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22" target="_blank">CYP4A22</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371891;SAVANT_GENE=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22" target="_blank">CYP4A22</a>;SAVANT_INFO=+/12.3kb/12/2.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.790+80T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A22+c.790+80T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47609668">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,47:87:99:1342,0,972:127	0|0:109,0:109:99:0,327,3704:127	1|0:36,40:76:99:1171,0,995:127
1	47610293	.	C	T	11771.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=468;MQ=45.76;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs968322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=968322" target="_blank">rs968322</a>;ExAC.Info.AC=28759;ExAC.Info.AN=126682;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=25937;ExAC.Info.AC_Hom=595;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.396+32414G>A;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His323His/c.969C>T;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371891;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371891;SAVANT_GENE=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22" target="_blank">CYP4A22</a>;SAVANT_INFO=+/12.3kb/12/2.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.969C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A22+c.969C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47610293">View</a>	GT:AD:DP:GQ:PL:TP	0/1:65,80:145:99:2261,0,1862:127	0/1:145,29:174:99:426,0,4619:127	0/1:72,77:149:99:2286,0,2040:127
1	47610386	.	C	T	2222.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=232;MQ=63.85;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs146679692;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146679692" target="_blank">rs146679692</a>;ExAC.Info.AC=259;ExAC.Info.AN=126704;ExAC.Info.AF=2.044e-03;ExAC.Info.AC_Het=259;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.396+32321G>A;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu354Leu/c.1062C>T;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371891;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371891;SAVANT_GENE=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22" target="_blank">CYP4A22</a>;SAVANT_INFO=+/12.3kb/12/2.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1062C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A22+c.1062C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47610386">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2131:127	0|1:49,42:91:99:1130,0,1518:127	0|0:82,0:82:99:0,246,2876:127
1	47614485	.	A	G	4258.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=181;MQ=68.40;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72684327;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72684327" target="_blank">rs72684327</a>;ExAC.Info.AC=20933;ExAC.Info.AN=126472;ExAC.Info.AF=0.166;ExAC.Info.AC_Het=16274;ExAC.Info.AC_Hom=1827;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.396+28222T>C;snpeff.Gene_Name=CYP4A22-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444042;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=16;snpeff.Amino_Acid_Change=c.*16A>G;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22-AS1" target="_blank">CYP4A22-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371891;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371891;SAVANT_GENE=CYP4A22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP4A22" target="_blank">CYP4A22</a>;SAVANT_INFO=+/12.3kb/12/2.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*16A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP4A22+c.*16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47614485">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,25:45:99:802,0,541:127	0|0:80,0:80:99:0,240,2667:127	1|0:30,26:56:99:797,0,844:127
1	47685455	.	T	C	16301.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Leukemia-1|_T-cell_acute_lymphocytic_(3);dbSNP139.ID=rs927462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=927462" target="_blank">rs927462</a>;ExAC.Info.AC=125562;ExAC.Info.AN=125570;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=59853;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys313Lys/c.939A>G;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=TAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAL1" target="_blank">TAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371883;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294339;SAVANT_GENE=TAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAL1" target="_blank">TAL1</a>;SAVANT_INFO=-/13.5kb/4/5.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.933A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAL1+c.933A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47685455">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1925,168,0:127	1|1:0,71:71:99:2574,213,0:127	1|1:0,46:46:99:1688,138,0:127
1	47685569	.	G	A	189.25	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=19;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Leukemia-1|_T-cell_acute_lymphocytic_(3);dbSNP139.ID=rs144117146;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144117146" target="_blank">rs144117146</a>;ExAC.Info.AC=4624;ExAC.Info.AN=120296;ExAC.Info.AF=0.038;ExAC.Info.AC_Het=3584;ExAC.Info.AC_Hom=116;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly275Gly/c.825C>T;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=TAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAL1" target="_blank">TAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371883;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294339;SAVANT_GENE=TAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAL1" target="_blank">TAL1</a>;SAVANT_INFO=-/13.5kb/4/5.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.819C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAL1+c.819C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47685569">View</a>	GT:AD:DP:GQ:PL:TP	0|0:4,0:4:12:0,12,172:9	0|1:7,4:11:99:113,0,228:9	0|0:4,0:4:12:0,12,154:9
1	47691568	.	GCAGA	G	5501.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Leukemia-1|_T-cell_acute_lymphocytic_(3);dbSNP139.ID=rs145295250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145295250" target="_blank">rs145295250</a>;ExAC.Info.AC=50496;ExAC.Info.AN=115500;ExAC.Info.AF=0.437;ExAC.Info.AC_Het=23395;ExAC.Info.AC_Hom=11713;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.101_104delCAGA;snpeff.Gene_Name=RP1-18D14.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-18D147" target="_blank">RP1-18D147</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422216;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1-11_-1-8delTCTG;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=TAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-18D147" target="_blank">RP1-18D147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371883;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1_4delTCTG;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=TAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-18D147" target="_blank">RP1-18D147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371883;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000294339;SAVANT_GENE=TAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAL1" target="_blank">TAL1</a>;SAVANT_INFO=-/13.5kb/4/5.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12_-9delTCTG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAL1+c.-12_-9delTCTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47691568">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,17:46:99:627,0,1166:127	0/1:25,19:44:99:723,0,987:127	0/1:29,18:47:99:632,0,1149:127
1	47717189	.	A	G	41605.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=710;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Microcephaly_7|_primary|_autosomal_recessive|_612703_(3);dbSNP139.ID=rs2758735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2758735" target="_blank">rs2758735</a>;ExAC.Info.AC=63353;ExAC.Info.AN=126702;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=29823;ExAC.Info.AC_Hom=16750;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000128291|RCV000080044;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro1162Pro/c.3486T>C;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=STIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIL" target="_blank">STIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371877;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371877;SAVANT_GENE=STIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIL" target="_blank">STIL</a>;SAVANT_INFO=-/64.0kb/17/5.0kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.3486T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STIL+c.3486T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47717189">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128291%20OR%20RCV000080044" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,223:223:99:7696,670,0:127	1|0:141,113:254:99:3041,0,4198:127	1|1:0,233:233:99:7913,700,0:127
1	47726087	.	T	C	8348.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=711;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Microcephaly_7|_primary|_autosomal_recessive|_612703_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13376679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13376679" target="_blank">rs13376679</a>;ExAC.Info.AC=30594;ExAC.Info.AN=126702;ExAC.Info.AF=0.241;ExAC.Info.AC_Het=22156;ExAC.Info.AC_Hom=4218;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000080043;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His985Arg/c.2954A>G;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=STIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIL" target="_blank">STIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371877;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371877;SAVANT_GENE=STIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIL" target="_blank">STIL</a>;SAVANT_INFO=-/64.0kb/17/5.0kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2954A>G_p.His985Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STIL+c.2954A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47726087">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000080043" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:202,0:202:99:0,608,7365:127	0|1:144,135:279:99:4193,0,4426:127	0|0:230,0:230:99:0,692,8552:127
1	47735280	.	T	C	29095.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=511;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Microcephaly_7|_primary|_autosomal_recessive|_612703_(3);dbSNP139.ID=rs2742104;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2742104" target="_blank">rs2742104</a>;ExAC.Info.AC=63224;ExAC.Info.AN=126648;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=29599;ExAC.Info.AC_Hom=16515;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000147688;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2615+27A>G;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=STIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIL" target="_blank">STIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371877;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371877;SAVANT_GENE=STIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIL" target="_blank">STIL</a>;SAVANT_INFO=-/64.0kb/17/5.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2615+27A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STIL+c.2615+27A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47735280">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000147688" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:5663,457,0:127	1|0:115,75:190:99:2313,0,3468:127	1|1:0,169:169:99:6351,508,0:127
1	47767914	.	G	A	6326.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=658;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Microcephaly_7|_primary|_autosomal_recessive|_612703_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3125630;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3125630" target="_blank">rs3125630</a>;ExAC.Info.AC=63365;ExAC.Info.AN=126700;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=29822;ExAC.Info.AC_Hom=16719;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000020526|RCV000147687;Clinvar.PhenotypeIDs=GeneReviews:NBK9587|MedGen:C2675187|OMIM:612703|Orphanet:ORPHA2512|MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gTa;snpeff.Amino_Acid_Change=p.Ala86Val/c.257C>T;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=STIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIL" target="_blank">STIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371877;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371877;SAVANT_GENE=STIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIL" target="_blank">STIL</a>;SAVANT_INFO=-/64.0kb/17/5.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.257C>T_p.Ala86Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STIL+c.257C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47767914">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020526%20OR%20RCV000147687" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:216,1:217:99:0,620,7975:127	0|1:118,113:231:99:3182,0,3832:127	0|0:210,0:210:99:0,631,7446:127
1	47799639	.	G	C	2260.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7543016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7543016" target="_blank">rs7543016</a>;ExAC.Info.AC=52740;ExAC.Info.AN=119566;ExAC.Info.AF=0.441;ExAC.Info.AC_Het=15438;ExAC.Info.AC_Hom=7097;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Cgg;snpeff.Amino_Acid_Change=p.Gly8Arg/c.22G>C;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CMPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CMPK1" target="_blank">CMPK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371873;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371873;SAVANT_GENE=CMPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CMPK1" target="_blank">CMPK1</a>;SAVANT_INFO=+/45.0kb/6/2.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.22G>C_p.Gly8Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CMPK1+c.22G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47799639">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2512:127	0|1:48,39:87:99:1149,0,1400:127	0|0:54,0:54:99:0,162,1833:127
1	47800845	.	A	C	10126.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1022;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4492666;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4492666" target="_blank">rs4492666</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.171+1057A>C;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CMPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CMPK1" target="_blank">CMPK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371873;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371873;SAVANT_GENE=CMPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CMPK1" target="_blank">CMPK1</a>;SAVANT_INFO=+/45.0kb/6/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.171+1057A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CMPK1+c.171+1057A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47800845">View</a>	GT:AD:DP:GQ:PL:TP	0|0:326,0:326:99:0,979,10413:127	0|1:212,175:387:99:5082,0,5870:127	0|0:309,0:309:99:0,928,10514:127
1	47841038	.	G	GA	4986.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3214951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3214951" target="_blank">rs3214951</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.645+74_645+75insA;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CMPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CMPK1" target="_blank">CMPK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371873;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371873;SAVANT_GENE=CMPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CMPK1" target="_blank">CMPK1</a>;SAVANT_INFO=+/45.0kb/6/2.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.645+80dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CMPK1+c.645+80dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47841038">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:762,75,0:74	1|0:17,16:33:99:388,0,401:74	1|1:0,36:36:99:1096,108,0:74
1	47842431	.	G	A	38615.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=550;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3125648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3125648" target="_blank">rs3125648</a>;ExAC.Info.AC=124781;ExAC.Info.AN=126682;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1648;ExAC.Info.AC_Hom=61504;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=14;snpeff.Amino_Acid_Change=c.*14G>A;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CMPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CMPK1" target="_blank">CMPK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371873;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371873;SAVANT_GENE=CMPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CMPK1" target="_blank">CMPK1</a>;SAVANT_INFO=+/45.0kb/6/2.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*14G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CMPK1+c.*14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47842431">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,188:188:99:6309,565,0:127	1|1:0,209:209:99:7412,628,0:127	1|1:0,153:153:99:5431,460,0:127
1	47882497	.	C	T	5769.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Anterior_segment_mesenchymal_dysgenesis|_107250_(3)|_Aphakia|_congenital_primary|_610256_(3);dbSNP139.ID=rs34082359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34082359" target="_blank">rs34082359</a>;ExAC.Info.AC=37911;ExAC.Info.AN=121990;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=22588;ExAC.Info.AC_Hom=5545;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala170Ala/c.510C>T;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=FOXE3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXE3" target="_blank">FOXE3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335071;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335071;SAVANT_GENE=FOXE3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXE3" target="_blank">FOXE3</a>;SAVANT_INFO=+/2.0kb/1/2.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.510C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOXE3+c.510C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47882497">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,29:56:99:955,0,744:127	0|0:55,0:55:99:0,165,1957:127	1|0:40,32:72:99:1060,0,1156:127
1	47904000	.	G	A	2390.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs78469326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78469326" target="_blank">rs78469326</a>;ExAC.Info.AC=598;ExAC.Info.AN=17414;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=23;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala65Thr/c.193G>A;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=FOXD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXD2" target="_blank">FOXD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334793;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334793;SAVANT_GENE=FOXD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXD2" target="_blank">FOXD2</a>;SAVANT_INFO=+/4.7kb/1/4.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.193G>A_p.Ala65Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOXD2+c.193G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47904000">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,10:23:99:247,0,431:72	0|0:24,0:24:72:0,72,896:72	1|0:10,12:22:99:347,0,267:72
1	47904668	.	T	TCCGCAC	7508.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=63;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3046924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3046924" target="_blank">rs3046924</a>;ExAC.Info.AC=10866;ExAC.Info.AN=11790;ExAC.Info.AF=0.922;ExAC.Info.AC_Het=80;ExAC.Info.AC_Hom=3526;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.862_863insCCGCAC;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=FOXD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXD2" target="_blank">FOXD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334793;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.862_863insCCGCAC;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=FOXD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXD2" target="_blank">FOXD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334793;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ccg/CCGCACccg;snpeff.Amino_Acid_Change=p.Pro288_His289insProHisPro/c.862_863insCCGCAC;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=FOXD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXD2" target="_blank">FOXD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334793;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000334793;SAVANT_GENE=FOXD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXD2" target="_blank">FOXD2</a>;SAVANT_INFO=+/4.7kb/1/4.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.874_879dup6_p.Pro292_His293dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOXD2+c.874_879dup6+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47904668">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:892,60,0:61	1|1:0,24:24:72:1073,72,0:61	1|1:0,19:19:62:923,62,0:61
1	47904909	.	G	C	8599.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2405913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2405913" target="_blank">rs2405913</a>;ExAC.Info.AC=96554;ExAC.Info.AN=96572;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=16139;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102G>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=FOXD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXD2" target="_blank">FOXD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334793;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102G>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=FOXD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXD2" target="_blank">FOXD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334793;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcg/Ccg;snpeff.Amino_Acid_Change=p.Ala368Pro/c.1102G>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=FOXD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXD2" target="_blank">FOXD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334793;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334793;SAVANT_GENE=FOXD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXD2" target="_blank">FOXD2</a>;SAVANT_INFO=+/4.7kb/1/4.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1102G>C_p.Ala368Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOXD2+c.1102G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:47904909">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:921,78,0:86	1|1:0,36:36:99:1344,108,0:86	1|1:0,29:29:87:1139,87,0:86
1	48459907	.	C	T	29190.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=544;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3814006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814006" target="_blank">rs3814006</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=19087;ExAC.Info.AN=106550;ExAC.Info.AF=0.179;ExAC.Info.AC_Het=4432;ExAC.Info.AC_Hom=845;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala155Ala/c.465G>A;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=TRABD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRABD2B" target="_blank">TRABD2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000606738;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRABD2B" target="_blank">TRABD2B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRABD2B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:48459907">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,172:173:99:6065,479,0:127	1|0:114,96:210:99:2761,0,3201:127	1|0:80,81:161:99:2365,0,2364:127
1	48697733	.	T	G	21593.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs212991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=212991" target="_blank">rs212991</a>;ExAC.Info.AC=126610;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=94;ExAC.Info.AC_Hom=63254;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.882T>G;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=SLC5A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A9" target="_blank">SLC5A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236495;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atT/atG;snpeff.Amino_Acid_Change=p.Ile294Met/c.882T>G;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=SLC5A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A9" target="_blank">SLC5A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236495;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236495;SAVANT_GENE=SLC5A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A9" target="_blank">SLC5A9</a>;SAVANT_INFO=+/26.0kb/15/3.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.882T>G_p.Ile294Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC5A9+c.882T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:48697733">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2514,198,0:127	1|1:0,103:103:99:3482,308,0:127	1|1:0,80:80:99:2601,240,0:127
1	48697751	.	C	T	10002.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs61997212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61997212" target="_blank">rs61997212</a>;ExAC.Info.AC=16989;ExAC.Info.AN=126704;ExAC.Info.AF=0.134;ExAC.Info.AC_Het=14209;ExAC.Info.AC_Hom=1385;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900C>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=SLC5A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A9" target="_blank">SLC5A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236495;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser300Ser/c.900C>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=SLC5A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A9" target="_blank">SLC5A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236495;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236495;SAVANT_GENE=SLC5A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A9" target="_blank">SLC5A9</a>;SAVANT_INFO=+/26.0kb/15/3.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.900C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC5A9+c.900C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:48697751">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,26:57:99:712,0,907:127	1|1:1,89:90:99:3047,260,0:127	0|1:43,30:73:99:786,0,1203:127
1	48764419	.	C	T	36878.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=479;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1056042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1056042" target="_blank">rs1056042</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=46035;ExAC.Info.AN=126700;ExAC.Info.AF=0.363;ExAC.Info.AC_Het=27885;ExAC.Info.AC_Hom=9059;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tAt;snpeff.Amino_Acid_Change=p.Cys478Tyr/c.1433G>A;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=SPATA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA6" target="_blank">SPATA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371847;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371847;SAVANT_GENE=SPATA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA6" target="_blank">SPATA6</a>;SAVANT_INFO=-/176.8kb/13/5.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1433G>A_p.Cys478Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPATA6+c.1433G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:48764419">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,135:135:99:4311,406,0:127	1|1:0,166:166:99:5559,499,0:127	1|1:0,178:178:99:5995,535,0:127
1	48902552	.	G	A	10228.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=114;MQ=64.76;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs78784453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78784453" target="_blank">rs78784453</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.914G>A;snpeff.Gene_Name=RP11-329A14.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-329A141" target="_blank">RP11-329A141</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000412769;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.238+14672C>T;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=SPATA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-329A141" target="_blank">RP11-329A141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371847;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371847;SAVANT_GENE=SPATA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA6" target="_blank">SPATA6</a>;SAVANT_INFO=-/176.8kb/13/5.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.238+14672C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPATA6+c.238+14672C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:48902552">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1167,93,0:113	1|1:0,45:45:99:1726,135,0:113	1|1:0,38:38:99:1394,114,0:113
1	48917316	.	A	T	7254.98	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=388;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs200183446;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200183446" target="_blank">rs200183446</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190-44T>A;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=SPATA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA6" target="_blank">SPATA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371847;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371847;SAVANT_GENE=SPATA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA6" target="_blank">SPATA6</a>;SAVANT_INFO=-/176.8kb/13/5.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.190-44T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPATA6+c.190-44T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:48917316">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,49:117:99:1164,0,1867:127	0|0:138,0:138:99:0,415,4594:127	1|0:68,65:133:99:1747,0,1847:127
1	48937691	.	A	T	9705.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2275309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275309" target="_blank">rs2275309</a>;ExAC.Info.AC=40816;ExAC.Info.AN=122560;ExAC.Info.AF=0.333;ExAC.Info.AC_Het=16692;ExAC.Info.AC_Hom=5158;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=11;snpeff.Amino_Acid_Change=c.-11T>A;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=SPATA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA6" target="_blank">SPATA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371847;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371847;SAVANT_GENE=SPATA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA6" target="_blank">SPATA6</a>;SAVANT_INFO=-/176.8kb/13/5.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-11T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPATA6+c.-11T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:48937691">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1248,111,0:95	1|1:0,43:43:99:1520,129,0:95	1|1:0,32:32:96:1190,96,0:95
1	49056695	.	T	C	8837.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7543402;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7543402" target="_blank">rs7543402</a>;ExAC.Info.AC=41443;ExAC.Info.AN=123344;ExAC.Info.AF=0.336;ExAC.Info.AC_Het=16073;ExAC.Info.AC_Hom=5040;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.952-38A>G;snpeff.Amino_Acid_length=503;snpeff.Gene_Name=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371839;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371839;SAVANT_GENE=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;SAVANT_INFO=-/1491.1kb/14/2.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.952-38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGBL4+c.952-38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:49056695">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:921,78,0:95	1|1:0,35:35:99:1238,105,0:95	1|1:0,32:32:96:1029,96,0:95
1	49100332	.	C	T	5133.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs319983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=319983" target="_blank">rs319983</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.840-56G>A;snpeff.Amino_Acid_length=503;snpeff.Gene_Name=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371839;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Nucleophile];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.840C>T;snpeff.Amino_Acid_length=503;snpeff.Gene_Name=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371839;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Nucleophile];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.840C>T;snpeff.Amino_Acid_length=503;snpeff.Gene_Name=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371839;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371839;SAVANT_GENE=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;SAVANT_INFO=-/1491.1kb/14/2.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.840-56G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGBL4+c.840-56G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:49100332">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,16:35:99:402,0,644:116	1|1:0,39:39:99:1346,117,0:116	0|1:14,18:32:99:565,0,423:116
1	49113319	.	T	C	15586.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs319953;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=319953" target="_blank">rs319953</a>;ExAC.Info.AC=9244;ExAC.Info.AN=14820;ExAC.Info.AF=0.624;ExAC.Info.AC_Het=2393;ExAC.Info.AC_Hom=2665;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.839+5690A>G;snpeff.Amino_Acid_length=503;snpeff.Gene_Name=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371839;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Nucleophile];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.840T>C;snpeff.Amino_Acid_length=503;snpeff.Gene_Name=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371839;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Nucleophile];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.840T>C;snpeff.Amino_Acid_length=503;snpeff.Gene_Name=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371839;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371839;SAVANT_GENE=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;SAVANT_INFO=-/1491.1kb/14/2.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.839+5690A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGBL4+c.839+5690A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:49113319">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,35:77:99:931,0,1161:127	1|1:0,114:114:99:3902,342,0:127	0|1:55,69:124:99:1866,0,1372:127
1	49128720	.	C	T	5147.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs320007;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=320007" target="_blank">rs320007</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.724+104G>A;snpeff.Amino_Acid_length=503;snpeff.Gene_Name=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371839;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371839;SAVANT_GENE=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;SAVANT_INFO=-/1491.1kb/14/2.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.724+104G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGBL4+c.724+104G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:49128720">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,11:34:99:298,0,682:127	1|1:0,45:45:99:1544,135,0:127	0|1:24,14:38:99:366,0,744:127
1	49224584	.	G	T	8619.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1128934;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1128934" target="_blank">rs1128934</a>;ExAC.Info.AC=99535;ExAC.Info.AN=125734;ExAC.Info.AF=0.792;ExAC.Info.AC_Het=16937;ExAC.Info.AC_Hom=38200;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.635-95671C>A;snpeff.Amino_Acid_length=503;snpeff.Gene_Name=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371839;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cgg/Agg;snpeff.Amino_Acid_Change=p.Arg245Arg/c.733C>A;snpeff.Amino_Acid_length=421;snpeff.Gene_Name=BEND5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371833;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371833:ENST00000371839;SAVANT_GENE=BEND5:AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEND5:AGBL4" target="_blank">BEND5:AGBL4</a>;SAVANT_INFO=-/49.4kb/6/1.7kb:-/1491.1kb/14/2.9kb;SAVANT_LOC=Ex3:In6/7;SAVANT_HGVS=c.733C>A_p.=:c.635-95671C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BEND5:AGBL4+c.733C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:49224584">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,29:57:99:821,0,814:127	0|1:43,37:80:99:987,0,1208:127	1|1:0,50:50:99:1835,150,0:127
1	49332724	.	A	C	3832.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6703833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6703833" target="_blank">rs6703833</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.634+139T>G;snpeff.Amino_Acid_length=503;snpeff.Gene_Name=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371839;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371839;SAVANT_GENE=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;SAVANT_INFO=-/1491.1kb/14/2.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.634+139T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGBL4+c.634+139T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:49332724">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2550:127	0|1:39,37:76:99:1221,0,1216:127	0|1:30,25:55:99:715,0,921:127
1	49511424	.	A	G	11004.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=455;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3934240;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3934240" target="_blank">rs3934240</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=10062;ExAC.Info.AN=69746;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=4542;ExAC.Info.AC_Hom=746;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His142His/c.426T>C;snpeff.Amino_Acid_length=503;snpeff.Gene_Name=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371839;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371839;SAVANT_GENE=AGBL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL4" target="_blank">AGBL4</a>;SAVANT_INFO=-/1491.1kb/14/2.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.426T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGBL4+c.426T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:49511424">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,65:125:99:1979,0,1586:127	0|0:176,0:176:99:0,529,6058:127	1|0:85,69:154:99:2095,0,2315:127
1	50572096	.	C	A	7029.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Neuropathy|_paraneoplastic_sensory_(1);dbSNP139.ID=rs12138061;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12138061" target="_blank">rs12138061</a>;ExAC.Info.AC=26330;ExAC.Info.AN=124776;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=19056;ExAC.Info.AC_Hom=2667;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ELAVL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELAVL4" target="_blank">ELAVL4</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357083;SAVANT_GENE=ELAVL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELAVL4" target="_blank">ELAVL4</a>;SAVANT_INFO=+/95.1kb/7/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.60+31C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELAVL4+c.60+31C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:50572096">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,44:96:99:1163,0,1601:127	0|0:136,0:136:99:0,408,4933:127	1|0:71,55:126:99:1431,0,2159:127
1	50661411	.	C	T	26157.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Neuropathy|_paraneoplastic_sensory_(1);dbSNP139.ID=rs2480683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2480683" target="_blank">rs2480683</a>;ExAC.Info.AC=117730;ExAC.Info.AN=126702;ExAC.Info.AF=0.929;ExAC.Info.AC_Het=5428;ExAC.Info.AC_Hom=56142;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro234Pro/c.702C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=ELAVL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELAVL4" target="_blank">ELAVL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371821;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357083;SAVANT_GENE=ELAVL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELAVL4" target="_blank">ELAVL4</a>;SAVANT_INFO=+/95.1kb/7/1.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.738C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELAVL4+c.738C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:50661411">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3284,303,0:127	1|1:0,114:114:99:3909,343,0:127	1|1:0,98:98:99:3405,295,0:127
1	50666515	.	C	T	11778.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Neuropathy|_paraneoplastic_sensory_(1);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2494876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2494876" target="_blank">rs2494876</a>;ExAC.Info.AC=106215;ExAC.Info.AN=126660;ExAC.Info.AF=0.839;ExAC.Info.AC_Het=14152;ExAC.Info.AC_Hom=45678;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro275Ser/c.823C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=ELAVL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELAVL4" target="_blank">ELAVL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371821;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357083;SAVANT_GENE=ELAVL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELAVL4" target="_blank">ELAVL4</a>;SAVANT_INFO=+/95.1kb/7/1.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.825-8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELAVL4+c.825-8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:50666515">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1663,153,0:114	1|1:0,57:57:99:1862,171,0:114	1|1:0,38:38:99:1217,114,0:114
1	50917810	.	T	A	8386.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72690463;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72690463" target="_blank">rs72690463</a>;ExAC.Info.AC=6;ExAC.Info.AN=116684;ExAC.Info.AF=5.142e-05;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1870-10615A>T;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=FAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAF1" target="_blank">FAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396153;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396153;SAVANT_GENE=FAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAF1" target="_blank">FAF1</a>;SAVANT_INFO=-/520.8kb/19/4.4kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1870-10615A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAF1+c.1870-10615A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:50917810">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,46:105:99:1366,0,1575:127	1|0:72,68:140:99:2056,0,2062:127	0|0:117,0:117:99:0,352,4328:127
1	50956212	.	C	CAAATACAGTGG	34472.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=353;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs149582773;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149582773" target="_blank">rs149582773</a>;ExAC.Info.AC=126461;ExAC.Info.AN=126568;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=92;ExAC.Info.AC_Hom=63058;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1653+48_1653+47insCCACTGTATTT;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=FAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAF1" target="_blank">FAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396153;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000396153;SAVANT_GENE=FAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAF1" target="_blank">FAF1</a>;SAVANT_INFO=-/520.8kb/19/4.4kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1653+47_1653+48insCCACTGTATTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAF1+c.1653+47_1653+48insCCACTGTATTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:50956212">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:4099,341,0:127	1|1:0,148:148:99:6836,529,0:127	1|1:0,108:108:99:4865,388,0:127
1	51180660	.	A	G	6789.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs17384533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17384533" target="_blank">rs17384533</a>;ExAC.Info.AC=5803;ExAC.Info.AN=91578;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=1860;ExAC.Info.AC_Hom=161;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.552-9097T>C;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=FAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAF1" target="_blank">FAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396153;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396153;SAVANT_GENE=FAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAF1" target="_blank">FAF1</a>;SAVANT_INFO=-/520.8kb/19/4.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.552-9097T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAF1+c.552-9097T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51180660">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1458,126,0:122	1|1:0,42:42:99:1532,126,0:122	1|0:23,8:31:99:212,0,671:122
1	51435946	.	C	T	13020.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=625;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41285700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41285700" target="_blank">rs41285700</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-11-84C>T;snpeff.Amino_Acid_length=168;snpeff.Gene_Name=CDKN2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDKN2C" target="_blank">CDKN2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262662;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262662;SAVANT_GENE=CDKN2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDKN2C" target="_blank">CDKN2C</a>;SAVANT_INFO=+/13.9kb/4/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-95C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDKN2C+c.-95C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51435946">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,106:193:99:2855,0,2552:127	0|0:249,0:249:99:0,748,8756:127	1|0:102,81:183:99:2193,0,2728:127
1	51567930	.	A	G	5230.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=476;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72692268;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72692268" target="_blank">rs72692268</a>;ExAC.Info.AC=435;ExAC.Info.AN=27112;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=411;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.16+9A>G;snpeff.Amino_Acid_length=199;snpeff.Gene_Name=C1orf185;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf185" target="_blank">C1orf185</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371759;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371759;SAVANT_GENE=C1orf185;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf185" target="_blank">C1orf185</a>;SAVANT_INFO=+/45.8kb/5/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.16+9A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf185+c.16+9A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51567930">View</a>	GT:AD:DP:GQ:PL:TP	0|0:140,0:140:99:0,420,4802:127	0|0:162,0:162:99:0,487,5760:127	0|1:82,92:174:99:2634,0,2296:127
1	51753904	.	G	A	8672.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs17392930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17392930" target="_blank">rs17392930</a>;ExAC.Info.AC=5040;ExAC.Info.AN=125330;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=4767;ExAC.Info.AC_Hom=135;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile589Ile/c.1767C>T;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413473;SAVANT_GENE=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;SAVANT_INFO=-/57.9kb/18/2.7kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.1671C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC39A+c.1671C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51753904">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,37:63:99:980,0,683:127	1|1:0,88:88:99:2932,264,0:127	0|0:82,0:82:99:0,246,2812:127
1	51767912	.	GC	G	291.23	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs375305601;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=375305601" target="_blank">rs375305601</a>;cosmic68.Histology_subtype=acinar_carcinoma;ExAC.Info.AC=3272;ExAC.Info.AN=52282;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=3391;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.999+116delG;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1000delC;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1000delC;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000413473;SAVANT_GENE=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;SAVANT_INFO=-/57.9kb/18/2.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.903+116delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC39A+c.903+116delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51767912">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,5:65:52:0,52,1850:12	0|1:52,7:59:13:13,0,1623:12	0|0:43,5:48:25:0,25,1329:12
1	51767923	.	G	C	2891.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201705883;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201705883" target="_blank">rs201705883</a>;ExAC.Info.AC=4573;ExAC.Info.AN=59206;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=3401;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.999+106C>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1000G>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1000G>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413473;SAVANT_GENE=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;SAVANT_INFO=-/57.9kb/18/2.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.903+106C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC39A+c.903+106C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51767923">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,26:74:99:499,0,2781:127	0/1:41,26:67:99:567,0,2477:127	0/1:32,23:55:99:384,0,1880:127
1	51767929	.	A	C	2506.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=186;ExAC.Info.AN=78100;ExAC.Info.AF=2.382e-03;ExAC.Info.AC_Het=181;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.999+100T>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1000A>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1000A>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413473;SAVANT_GENE=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;SAVANT_INFO=-/57.9kb/18/2.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.903+100T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC39A+c.903+100T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51767929">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,9:62:99:465,0,3158:127	0/1:54,8:62:99:470,0,2998:127	0/1:39,6:45:99:359,0,2134:127
1	51767930	.	G	C	2119.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=184;ExAC.Info.AN=80312;ExAC.Info.AF=2.291e-03;ExAC.Info.AC_Het=180;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.999+99C>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1000G>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1000G>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413473;SAVANT_GENE=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;SAVANT_INFO=-/57.9kb/18/2.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.903+99C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC39A+c.903+99C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51767930">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,3:56:99:404,0,3160:127	0/1:56,3:59:99:443,0,3003:127	0/1:39,2:41:99:256,0,2150:127
1	51767931	.	T	C	559.0	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=185;ExAC.Info.AN=82502;ExAC.Info.AF=2.242e-03;ExAC.Info.AC_Het=180;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.999+98A>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1000T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1000T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413473;SAVANT_GENE=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;SAVANT_INFO=-/57.9kb/18/2.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.903+98A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC39A+c.903+98A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51767931">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,2:58:99:134,0,3162:97	0/1:57,3:60:99:134,0,3041:97	0/1:40,2:42:98:98,0,2164:97
1	51787853	.	A	G	622.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=20;snpeff.Amino_Acid_Change=c.-20T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447632;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413473;SAVANT_GENE=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;SAVANT_INFO=-/57.9kb/18/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.54-356T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC39A+c.54-356T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51787853">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,13:31:99:114,0,371:85	0/1:26,14:40:86:86,0,602:85	0/1:19,12:31:99:162,0,492:85
1	51808816	.	A	G	6690.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56078667;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56078667" target="_blank">rs56078667</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413473;SAVANT_GENE=TTC39A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC39A" target="_blank">TTC39A</a>;SAVANT_INFO=-/57.9kb/18/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.53+1847T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC39A+c.53+1847T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51808816">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,43:91:99:1172,0,1289:127	0|0:101,0:101:99:0,303,3371:127	1|0:34,45:79:99:1232,0,899:127
1	51826921	.	T	C	20302.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=517;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17567" target="_blank">rs17567</a>;ExAC.Info.AC=25956;ExAC.Info.AN=126704;ExAC.Info.AF=0.205;ExAC.Info.AC_Het=18760;ExAC.Info.AC_Hom=3594;snpeff.Effect=sequence_feature[region_of_interest:15_X_3_AA_repeats_of_D-P-F];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2466T>C;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:15_X_3_AA_repeats_of_D-P-F];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2466T>C;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:15_X_3_AA_repeats_of_D-P-F];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2466T>C;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:15_X_3_AA_repeats_of_D-P-F];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2466T>C;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:15_X_3_AA_repeats_of_D-P-F];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2466T>C;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:15_X_3_AA_repeats_of_D-P-F];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2466T>C;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:15_X_3_AA_repeats_of_D-P-F];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2466T>C;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2466T>C;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2466T>C;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2466T>C;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atA/atG;snpeff.Amino_Acid_Change=p.Ile822Met/c.2466A>G;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371733;SAVANT_GENE=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;SAVANT_INFO=-/165.1kb/25/5.2kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2466A>G_p.Ile822Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS15+c.2466A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51826921">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,87:149:99:2689,0,1509:127	0|0:187,0:187:99:0,562,6345:127	1|1:0,181:181:99:6430,544,0:127
1	51873951	.	G	A	25465.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1065754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1065754" target="_blank">rs1065754</a>;ExAC.Info.AC=93055;ExAC.Info.AN=126704;ExAC.Info.AF=0.734;ExAC.Info.AC_Het=23085;ExAC.Info.AC_Hom=34979;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr443Tyr/c.1329C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371733;SAVANT_GENE=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;SAVANT_INFO=-/165.1kb/25/5.2kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1329C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS15+c.1329C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51873951">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:2996,276,0:127	1|1:0,122:122:99:4183,367,0:127	1|1:0,108:108:99:3820,325,0:127
1	51888878	.	A	G	13477.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=600;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=N;dbSNP139.ID=rs72696106;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72696106" target="_blank">rs72696106</a>;ExAC.Info.AC=261;ExAC.Info.AN=16490;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=217;ExAC.Info.AC_Hom=5;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1041-1348T>C;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371733;SAVANT_GENE=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;SAVANT_INFO=-/165.1kb/25/5.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1041-1348T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS15+c.1041-1348T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51888878">View</a>	GT:AD:DP:GQ:PL:TP	1|0:86,101:187:99:3201,0,2459:127	0|0:222,0:222:99:0,667,7535:127	1|0:98,93:191:99:2839,0,2879:127
1	51912788	.	GA	G	4371.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=138;ExAC.Info.AN=126674;ExAC.Info.AF=1.089e-03;ExAC.Info.AC_Het=195;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.652-12delT;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371733;SAVANT_GENE=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;SAVANT_INFO=-/165.1kb/25/5.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.652-12delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS15+c.652-12delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51912788">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,23:50:99:528,0,672:127	1|0:31,50:81:99:1230,0,693:127	0|0:61,0:61:99:0,183,1852:127
1	51924159	.	G	A	102.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=27;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs56167325;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56167325" target="_blank">rs56167325</a>;ExAC.Info.AC=138;ExAC.Info.AN=15466;ExAC.Info.AF=8.923e-03;ExAC.Info.AC_Het=102;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.561+2604C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371733;SAVANT_GENE=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;SAVANT_INFO=-/165.1kb/25/5.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.561+2604C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS15+c.561+2604C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51924159">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,0:11:33:0,33,366:31	0|0:12,0:12:36:0,36,449:31	0|1:2,2:4:37:70,0,37:31
1	51924226	.	C	T	390.52	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=24;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs6672300;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6672300" target="_blank">rs6672300</a>;ExAC.Info.AC=2037;ExAC.Info.AN=13864;ExAC.Info.AF=0.147;ExAC.Info.AC_Het=1443;ExAC.Info.AC_Hom=184;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.561+2537G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371733;SAVANT_GENE=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;SAVANT_INFO=-/165.1kb/25/5.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.561+2537G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS15+c.561+2537G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51924226">View</a>	GT:AD:DP:GQ:PL:TP	1|0:3,3:6:54:109,0,54:6	0|0:16,0:16:48:0,48,563:6	1|1:0,2:2:6:81,6,0:6
1	51926909	.	G	A	1594.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72696156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72696156" target="_blank">rs72696156</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.502-87C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.502G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371733;SAVANT_GENE=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;SAVANT_INFO=-/165.1kb/25/5.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.502-87C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS15+c.502-87C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51926909">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,10:23:99:273,0,451:84	0|0:28,0:28:84:0,84,1083:84	1|0:16,12:28:99:304,0,548:84
1	51938639	.	G	A	5580.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=565;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41292535;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41292535" target="_blank">rs41292535</a>;ExAC.Info.AC=3136;ExAC.Info.AN=126688;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=3076;ExAC.Info.AC_Hom=46;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.76-19C>T;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_DAB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76G>A;snpeff.Amino_Acid_length=896;snpeff.Gene_Name=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371733;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371733;SAVANT_GENE=EPS15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS15" target="_blank">EPS15</a>;SAVANT_INFO=-/165.1kb/25/5.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.76-19C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS15+c.76-19C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:51938639">View</a>	GT:AD:DP:GQ:PL:TP	0|0:176,0:176:99:0,529,5937:127	0|0:207,0:207:99:0,622,7386:127	0|1:87,95:182:99:2809,0,2425:127
1	52242432	.	CT	C	183.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs57902123;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57902123" target="_blank">rs57902123</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1225-72delT;snpeff.Amino_Acid_length=754;snpeff.Gene_Name=OSBPL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL9" target="_blank">OSBPL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000447887;SAVANT_GENE=OSBPL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL9" target="_blank">OSBPL9</a>;SAVANT_INFO=+/171.4kb/24/2.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1201-59delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSBPL9+c.1201-59delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52242432">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,4:16:57:57,0,221:56	1|0:15,3:18:25:25,0,305:56	0|0:23,0:23:69:0,69,562:56
1	52266242	.	G	A	18035.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs8375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8375" target="_blank">rs8375</a>;ExAC.Info.AC=63926;ExAC.Info.AN=126704;ExAC.Info.AF=0.505;ExAC.Info.AC_Het=29790;ExAC.Info.AC_Hom=17053;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro877Pro/c.2631C>T;snpeff.Amino_Acid_length=1219;snpeff.Gene_Name=NRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRD1" target="_blank">NRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354831;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354831;SAVANT_GENE=NRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRD1" target="_blank">NRD1</a>;SAVANT_INFO=-/89.6kb/33/3.9kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.2631C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRD1+c.2631C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52266242">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3518,303,0:127	1|0:66,67:133:99:1909,0,1888:127	1|0:51,49:100:99:1448,0,1451:127
1	52279650	.	T	G	14750.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2982846;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2982846" target="_blank">rs2982846</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1878+57A>C;snpeff.Amino_Acid_length=1219;snpeff.Gene_Name=NRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRD1" target="_blank">NRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354831;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354831;SAVANT_GENE=NRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRD1" target="_blank">NRD1</a>;SAVANT_INFO=-/89.6kb/33/3.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1878+57A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRD1+c.1878+57A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52279650">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,102:104:99:3289,263,0:127	1|0:43,55:98:99:1479,0,1143:127	1|0:51,45:96:99:1178,0,1486:127
1	52290984	.	T	G	5469.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11205896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11205896" target="_blank">rs11205896</a>;ExAC.Info.AC=63900;ExAC.Info.AN=126688;ExAC.Info.AF=0.504;ExAC.Info.AC_Het=29926;ExAC.Info.AC_Hom=16944;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly405Gly/c.1215A>C;snpeff.Amino_Acid_length=1219;snpeff.Gene_Name=NRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRD1" target="_blank">NRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354831;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354831;SAVANT_GENE=NRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRD1" target="_blank">NRD1</a>;SAVANT_INFO=-/89.6kb/33/3.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1215A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRD1+c.1215A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52290984">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1612,150,0:127	1|0:26,21:47:99:489,0,708:127	1|0:30,22:52:99:518,0,845:127
1	52293570	.	G	A	20372.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2077725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2077725" target="_blank">rs2077725</a>;ExAC.Info.AC=78205;ExAC.Info.AN=126674;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=27362;ExAC.Info.AC_Hom=24675;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1071-29C>T;snpeff.Amino_Acid_length=1219;snpeff.Gene_Name=NRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRD1" target="_blank">NRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354831;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354831;SAVANT_GENE=NRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRD1" target="_blank">NRD1</a>;SAVANT_INFO=-/89.6kb/33/3.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1071-29C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRD1+c.1071-29C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52293570">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,150:150:99:5035,451,0:127	1|0:75,87:162:99:2403,0,2303:127	1|0:67,57:124:99:1674,0,2105:127
1	52306063	.	ATCT	A	9896.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=157;MQ=70.46;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs35723519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35723519" target="_blank">rs35723519</a>;cosmic68.Histology_subtype=medullary_carcinoma;ExAC.Info.AC=70028;ExAC.Info.AN=126680;ExAC.Info.AF=0.553;ExAC.Info.AC_Het=28715;ExAC.Info.AC_Hom=20292;snpeff.Effect=disruptive_inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gaagat/gat;snpeff.Amino_Acid_Change=p.Glu154_Asp155del/c.462_464delAGA;snpeff.Amino_Acid_length=1219;snpeff.Gene_Name=NRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRD1" target="_blank">NRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354831;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000354831;SAVANT_GENE=NRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRD1" target="_blank">NRD1</a>;SAVANT_INFO=-/89.6kb/33/3.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.462_464delAGA_p.Glu154del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRD1+c.462_464delAGA+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52306063">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:2206,151,0:127	1|0:34,33:67:99:1209,0,1328:127	1|0:29,11:40:99:375,0,1192:127
1	52402956	.	G	A	28233.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10888742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888742" target="_blank">rs10888742</a>;ExAC.Info.AC=118284;ExAC.Info.AN=126704;ExAC.Info.AF=0.934;ExAC.Info.AC_Het=7236;ExAC.Info.AC_Hom=55482;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.347+10C>T;snpeff.Amino_Acid_length=219;snpeff.Gene_Name=RAB3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3B" target="_blank">RAB3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371655;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.348G>A;snpeff.Amino_Acid_length=219;snpeff.Gene_Name=RAB3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3B" target="_blank">RAB3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371655;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.348G>A;snpeff.Amino_Acid_length=219;snpeff.Gene_Name=RAB3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3B" target="_blank">RAB3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371655;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371655;SAVANT_GENE=RAB3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3B" target="_blank">RAB3B</a>;SAVANT_INFO=-/82.8kb/5/12.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.347+10C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAB3B+c.347+10C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52402956">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,121:121:99:3995,364,0:127	1|1:0,118:118:99:4120,355,0:127	1|1:0,119:119:99:4044,358,0:127
1	52489267	.	CAG	C	8405.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=671;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34432780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34432780" target="_blank">rs34432780</a>;ExAC.Info.AC=4104;ExAC.Info.AN=126696;ExAC.Info.AF=0.032;ExAC.Info.AC_Het=3956;ExAC.Info.AC_Hom=74;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.356-23_356-22delCT;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371626;SAVANT_GENE=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;SAVANT_INFO=-/36.0kb/7/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.356-23_356-22delCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TXNDC12+c.356-23_356-22delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52489267">View</a>	GT:AD:DP:GQ:PL:TP	0|0:202,0:202:99:0,608,9017:127	0|0:249,0:249:99:0,749,11086:127	0|1:109,111:220:99:4226,0,4243:127
1	52489321	.	C	A	4294.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=410;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2794990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794990" target="_blank">rs2794990</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.356-75G>T;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371626;SAVANT_GENE=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;SAVANT_INFO=-/36.0kb/7/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.356-75G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TXNDC12+c.356-75G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52489321">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,331,4117:127	0|0:166,0:166:99:0,499,6386:127	0|1:62,72:134:99:2166,0,2041:127
1	52489322	.	G	A	35160.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=404;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2783178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2783178" target="_blank">rs2783178</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.356-76C>T;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371626;SAVANT_GENE=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;SAVANT_INFO=-/36.0kb/7/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.356-76C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TXNDC12+c.356-76C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52489322">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3873,322,0:127	1|1:0,163:163:99:5997,490,0:127	1|1:0,134:134:99:5572,403,0:127
1	52498370	.	C	T	1063.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2809917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2809917" target="_blank">rs2809917</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=18967;ExAC.Info.AN=126646;ExAC.Info.AF=0.150;ExAC.Info.AC_Het=14870;ExAC.Info.AC_Hom=1782;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.159-4068G>A;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.159C>T;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.159C>T;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=stop_retained_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tGa/tAa;snpeff.Amino_Acid_Change=p.Ter355Ter/c.1064G>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=KTI12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371614;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371626:ENST00000371614;SAVANT_GENE=TXNDC12:KTI12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12:KTI12" target="_blank">TXNDC12:KTI12</a>;SAVANT_INFO=-/36.0kb/7/2.4kb:-/1.7kb/1/1.7kb;SAVANT_LOC=In2/3:Ex1;SAVANT_HGVS=c.159-4068G>A:c.1064G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TXNDC12:KTI12+c.159-4068G>A:c.1064G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52498370">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,1:47:99:0,131,1641:127	0|0:67,0:67:99:0,201,2528:127	0|1:28,21:49:99:551,0,858:127
1	52498861	.	A	T	3364.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2783175;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2783175" target="_blank">rs2783175</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=7505;ExAC.Info.AN=126704;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=6878;ExAC.Info.AC_Hom=307;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.159-4559T>A;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.159A>T;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.159A>T;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaA;snpeff.Amino_Acid_Change=p.Asp191Glu/c.573T>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=KTI12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371614;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371626:ENST00000371614;SAVANT_GENE=TXNDC12:KTI12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12:KTI12" target="_blank">TXNDC12:KTI12</a>;SAVANT_INFO=-/36.0kb/7/2.4kb:-/1.7kb/1/1.7kb;SAVANT_LOC=In2/3:Ex1;SAVANT_HGVS=c.159-4559T>A:c.573T>A_p.Asp191Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TXNDC12:KTI12+c.159-4559T>A:c.573T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52498861">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,351,3806:127	0|0:145,0:145:99:0,436,4841:127	0|1:64,63:127:99:1701,0,1847:127
1	52517412	.	A	G	30521.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs7529324;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7529324" target="_blank">rs7529324</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.49-44A>G;snpeff.Gene_Name=TXNDC12-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12-AS1" target="_blank">TXNDC12-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428794;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.97+3260T>C;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12-AS1" target="_blank">TXNDC12-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12-AS1" target="_blank">TXNDC12-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12-AS1" target="_blank">TXNDC12-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371626;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371626;SAVANT_GENE=TXNDC12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNDC12" target="_blank">TXNDC12</a>;SAVANT_INFO=-/36.0kb/7/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.97+3260T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TXNDC12+c.97+3260T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52517412">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,171:171:99:5948,513,0:127	1|1:0,152:152:99:5312,457,0:127	1|0:64,57:121:99:1747,0,1802:127
1	52729432	.	C	G	13363.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3833531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3833531" target="_blank">rs3833531</a>;ExAC.Info.AC=43222;ExAC.Info.AN=91528;ExAC.Info.AF=0.472;ExAC.Info.AC_Het=10650;ExAC.Info.AC_Hom=5790;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2179-13C>G;snpeff.Amino_Acid_length=1425;snpeff.Gene_Name=ZFYVE9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE9" target="_blank">ZFYVE9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371591;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>G;snpeff.Amino_Acid_length=1425;snpeff.Gene_Name=ZFYVE9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE9" target="_blank">ZFYVE9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371591;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>G;snpeff.Amino_Acid_length=1425;snpeff.Gene_Name=ZFYVE9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE9" target="_blank">ZFYVE9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371591;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287727;SAVANT_GENE=ZFYVE9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE9" target="_blank">ZFYVE9</a>;SAVANT_INFO=+/204.3kb/19/4.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.2179-13C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFYVE9+c.2179-13C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52729432">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:2953,282,0:127	1|0:22,50:72:99:1251,0,455:127	1|0:26,43:69:99:1268,0,626:127
1	52820226	.	G	A	28629.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2820334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2820334" target="_blank">rs2820334</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2448+54C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=CC2D1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D1B" target="_blank">CC2D1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371586;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371586;SAVANT_GENE=CC2D1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D1B" target="_blank">CC2D1B</a>;SAVANT_INFO=-/15.6kb/24/5.6kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2448+54C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CC2D1B+c.2448+54C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52820226">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3403,289,0:127	1|1:0,143:143:99:4890,430,0:127	1|1:0,90:90:99:3233,271,0:127
1	52991638	.	C	T	40779.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=791;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12123698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12123698" target="_blank">rs12123698</a>;ExAC.Info.AC=42627;ExAC.Info.AN=126702;ExAC.Info.AF=0.336;ExAC.Info.AC_Het=26697;ExAC.Info.AC_Hom=7963;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro105Pro/c.315G>A;snpeff.Amino_Acid_length=1645;snpeff.Gene_Name=ZCCHC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZCCHC11" target="_blank">ZCCHC11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257177;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257177;SAVANT_GENE=ZCCHC11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZCCHC11" target="_blank">ZCCHC11</a>;SAVANT_INFO=-/129.7kb/30/5.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.315G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZCCHC11+c.315G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:52991638">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,259:259:99:9315,778,0:127	1|0:127,141:268:99:4344,0,3584:127	1|0:119,145:264:99:4517,0,3368:127
1	53072454	.	T	C	20445.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1970951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1970951" target="_blank">rs1970951</a>;ExAC.Info.AC=107403;ExAC.Info.AN=126704;ExAC.Info.AF=0.848;ExAC.Info.AC_Het=16121;ExAC.Info.AC_Hom=45641;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.237T>C;snpeff.Amino_Acid_length=187;snpeff.Gene_Name=GPX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPX7" target="_blank">GPX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361314;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe79Phe/c.237T>C;snpeff.Amino_Acid_length=187;snpeff.Gene_Name=GPX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPX7" target="_blank">GPX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361314;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361314;SAVANT_GENE=GPX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPX7" target="_blank">GPX7</a>;SAVANT_INFO=+/6.7kb/3/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.237T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPX7+c.237T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53072454">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:3202,253,0:127	1|0:53,48:101:99:1601,0,1605:127	1|1:0,62:62:99:2415,186,0:127
1	53153432	.	T	C	2650.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs443751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=443751" target="_blank">rs443751</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37099;ExAC.Info.AN=126702;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=24831;ExAC.Info.AC_Hom=6122;snpeff.Effect=sequence_feature[repeat:Sel1-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656T>C;snpeff.Amino_Acid_length=231;snpeff.Gene_Name=SELRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELRC1" target="_blank">SELRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371538;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys219Arg/c.656A>G;snpeff.Amino_Acid_length=231;snpeff.Gene_Name=SELRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELRC1" target="_blank">SELRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371538;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371538;SAVANT_GENE=SELRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELRC1" target="_blank">SELRC1</a>;SAVANT_INFO=-/11.5kb/3/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.656A>G_p.Lys219Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELRC1+c.656A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53153432">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1873:127	0|1:42,45:87:99:1344,0,1139:127	0|0:73,0:73:99:0,219,2441:127
1	53158524	.	A	C	643.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs200725979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200725979" target="_blank">rs200725979</a>;ExAC.Info.AC=35279;ExAC.Info.AN=118926;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=34992;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[repeat:Sel1-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.122A>C;snpeff.Amino_Acid_length=231;snpeff.Gene_Name=SELRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELRC1" target="_blank">SELRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371538;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Sel1-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.122A>C;snpeff.Amino_Acid_length=231;snpeff.Gene_Name=SELRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELRC1" target="_blank">SELRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371538;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gGg;snpeff.Amino_Acid_Change=p.Val41Gly/c.122T>G;snpeff.Amino_Acid_length=231;snpeff.Gene_Name=SELRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELRC1" target="_blank">SELRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371538;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371538;SAVANT_GENE=SELRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELRC1" target="_blank">SELRC1</a>;SAVANT_INFO=-/11.5kb/3/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.122T>G_p.Val41Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELRC1+c.122T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53158524">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,28:96:45:45,0,1472:45	0/1:65,28:93:99:117,0,1606:45	0/1:52,22:74:99:102,0,1308:45
1	53245472	.	A	T	6794.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs9661082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9661082" target="_blank">rs9661082</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.952-53A>T;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=ZYG11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZYG11B" target="_blank">ZYG11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294353;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294353;SAVANT_GENE=ZYG11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZYG11B" target="_blank">ZYG11B</a>;SAVANT_INFO=+/100.8kb/14/8.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.952-53A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZYG11B+c.952-53A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53245472">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,48:91:99:1455,0,1304:127	0|0:115,0:115:99:0,346,4216:127	1|0:57,43:100:99:1256,0,1768:127
1	53250650	.	G	A	6830.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6588443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6588443" target="_blank">rs6588443</a>;ExAC.Info.AC=69302;ExAC.Info.AN=126704;ExAC.Info.AF=0.547;ExAC.Info.AC_Het=27185;ExAC.Info.AC_Hom=21040;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly398Gly/c.1194G>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=ZYG11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZYG11B" target="_blank">ZYG11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294353;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294353;SAVANT_GENE=ZYG11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZYG11B" target="_blank">ZYG11B</a>;SAVANT_INFO=+/100.8kb/14/8.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1194G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZYG11B+c.1194G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53250650">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,46:93:99:1274,0,1508:127	0|0:124,0:124:99:0,373,4563:127	1|0:68,47:115:99:1314,0,2141:127
1	53308665	.	C	G	9923.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs532242;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=532242" target="_blank">rs532242</a>;ExAC.Info.AC=11515;ExAC.Info.AN=25940;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=4565;ExAC.Info.AC_Hom=2585;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.90+20C>G;snpeff.Amino_Acid_length=759;snpeff.Gene_Name=ZYG11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZYG11A" target="_blank">ZYG11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371528;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371528;SAVANT_GENE=ZYG11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZYG11A" target="_blank">ZYG11A</a>;SAVANT_INFO=+/52.3kb/14/4.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.90+20C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZYG11A+c.90+20C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53308665">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,25:38:99:796,0,352:127	1|1:0,69:69:99:2495,207,0:127	0|1:29,31:60:99:935,0,790:127
1	53320274	.	G	T	20653.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs480299;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=480299" target="_blank">rs480299</a>;ExAC.Info.AC=17355;ExAC.Info.AN=27594;ExAC.Info.AF=0.629;ExAC.Info.AC_Het=5568;ExAC.Info.AC_Hom=5370;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaT;snpeff.Amino_Acid_Change=p.Glu76Asp/c.228G>T;snpeff.Amino_Acid_length=759;snpeff.Gene_Name=ZYG11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZYG11A" target="_blank">ZYG11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371528;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371528;SAVANT_GENE=ZYG11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZYG11A" target="_blank">ZYG11A</a>;SAVANT_INFO=+/52.3kb/14/4.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.228G>T_p.Glu76Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZYG11A+c.228G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53320274">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,62:122:99:1664,0,1673:127	1|1:0,170:170:99:5923,511,0:127	0|1:73,68:141:99:1817,0,2030:127
1	53364976	.	A	G	10355.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs576891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=576891" target="_blank">rs576891</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.703-80T>C;snpeff.Amino_Acid_length=292;snpeff.Gene_Name=ECHDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC2" target="_blank">ECHDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371522;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371522;SAVANT_GENE=ECHDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC2" target="_blank">ECHDC2</a>;SAVANT_INFO=-/25.8kb/10/1.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.703-80T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC2+c.703-80T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53364976">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,38:73:99:1197,0,968:127	1|1:0,63:63:99:2411,189,0:127	0|1:42,35:77:99:1119,0,1221:127
1	53370357	.	G	T	2354.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=A;dbSNP139.ID=rs72670819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72670819" target="_blank">rs72670819</a>;ExAC.Info.AC=4;ExAC.Info.AN=126700;ExAC.Info.AF=3.157e-05;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=0;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=taC/taA;snpeff.Amino_Acid_Change=p.Tyr221*/c.663C>A;snpeff.Amino_Acid_length=292;snpeff.Gene_Name=ECHDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC2" target="_blank">ECHDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371522;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;LOF=(ECHDC2|ENSG00000121310|1|1.00);NMD=(ECHDC2|ENSG00000121310|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000371522;SAVANT_GENE=ECHDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC2" target="_blank">ECHDC2</a>;SAVANT_INFO=-/25.8kb/10/1.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.663C>A_p.Tyr221X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC2+c.663C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53370357">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,18:32:99:493,0,439:90	1|0:12,17:29:99:503,0,393:90	0|0:30,0:30:90:0,90,1055:90
1	53372162	.	A	C	42.77	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ExAC.Info.AC=4;ExAC.Info.AN=118816;ExAC.Info.AF=3.367e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.457+29T>G;snpeff.Amino_Acid_length=292;snpeff.Gene_Name=ECHDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC2" target="_blank">ECHDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371522;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371522;SAVANT_GENE=ECHDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC2" target="_blank">ECHDC2</a>;SAVANT_INFO=-/25.8kb/10/1.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.457+29T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC2+c.457+29T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53372162">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,13:74:50:0,50,1782:27	0|1:76,18:94:40:40,0,2102:27	0|0:55,16:71:28:0,28,1481:27
1	53513437	.	T	C	42750.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=671;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Leukoencephalopathy_with_dystonia_and_motor_neuropathy|_613724_(3);dbSNP139.ID=rs1288362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1288362" target="_blank">rs1288362</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1469-93T>C;snpeff.Amino_Acid_length=547;snpeff.Gene_Name=SCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCP2" target="_blank">SCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371514;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SCP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1469T>C;snpeff.Amino_Acid_length=547;snpeff.Gene_Name=SCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCP2" target="_blank">SCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371514;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SCP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1469T>C;snpeff.Amino_Acid_length=547;snpeff.Gene_Name=SCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCP2" target="_blank">SCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371514;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SCP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1469T>C;snpeff.Amino_Acid_length=547;snpeff.Gene_Name=SCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCP2" target="_blank">SCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371514;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SCP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1469T>C;snpeff.Amino_Acid_length=547;snpeff.Gene_Name=SCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCP2" target="_blank">SCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371514;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371514;SAVANT_GENE=SCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCP2" target="_blank">SCP2</a>;SAVANT_INFO=+/124.5kb/16/2.8kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1469-93T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCP2+c.1469-93T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53513437">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,206:206:99:7257,619,0:127	1|1:0,240:240:99:8904,721,0:127	1|0:113,112:225:99:3229,0,3253:127
1	53535499	.	C	T	444.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=65;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17107831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17107831" target="_blank">rs17107831</a>;ExAC.Info.AC=6214;ExAC.Info.AN=124364;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=3757;ExAC.Info.AC_Hom=150;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gTa;snpeff.Amino_Acid_Change=p.Ala39Val/c.116C>T;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=PODN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PODN" target="_blank">PODN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312553;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312553;SAVANT_GENE=PODN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PODN" target="_blank">PODN</a>;SAVANT_INFO=+/23.3kb/11/3.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.116C>T_p.Ala39Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PODN+c.116C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53535499">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,697:59	0|0:30,0:30:90:0,90,1120:59	0|1:6,9:15:99:241,0,178:59
1	53537266	.	G	A	41456.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=626;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1769316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1769316" target="_blank">rs1769316</a>;ExAC.Info.AC=64489;ExAC.Info.AN=126600;ExAC.Info.AF=0.509;ExAC.Info.AC_Het=29687;ExAC.Info.AC_Hom=16995;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.369-1558C>T;snpeff.Gene_Name=RP11-334A14.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-334A145" target="_blank">RP11-334A145</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=PODN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-334A145" target="_blank">RP11-334A145</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312553;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=PODN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-334A145" target="_blank">RP11-334A145</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312553;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr172Thr/c.516G>A;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=PODN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-334A145" target="_blank">RP11-334A145</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312553;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312553;SAVANT_GENE=PODN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PODN" target="_blank">PODN</a>;SAVANT_INFO=+/23.3kb/11/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.516G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PODN+c.516G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53537266">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,197:197:99:6325,590,0:127	1|1:0,249:249:99:8273,747,0:127	1|0:82,98:180:99:2702,0,2181:127
1	53544439	.	G	A	39321.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=482;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1288388;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1288388" target="_blank">rs1288388</a>;ExAC.Info.AC=74775;ExAC.Info.AN=126504;ExAC.Info.AF=0.591;ExAC.Info.AC_Het=26201;ExAC.Info.AC_Hom=23864;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.368+6368C>T;snpeff.Gene_Name=RP11-334A14.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-334A145" target="_blank">RP11-334A145</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401G>A;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=PODN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-334A145" target="_blank">RP11-334A145</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312553;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro467Pro/c.1401G>A;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=PODN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-334A145" target="_blank">RP11-334A145</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312553;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312553;SAVANT_GENE=PODN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PODN" target="_blank">PODN</a>;SAVANT_INFO=+/23.3kb/11/3.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1401G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PODN+c.1401G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53544439">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:4852,445,0:127	1|1:0,180:180:99:6024,540,0:127	1|1:0,154:154:99:5108,462,0:127
1	53544597	.	T	C	6039.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1288389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1288389" target="_blank">rs1288389</a>;ExAC.Info.AC=90263;ExAC.Info.AN=123758;ExAC.Info.AF=0.729;ExAC.Info.AC_Het=13324;ExAC.Info.AC_Hom=26043;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.368+6210A>G;snpeff.Gene_Name=RP11-334A14.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-334A145" target="_blank">RP11-334A145</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val520Ala/c.1559T>C;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=PODN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-334A145" target="_blank">RP11-334A145</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312553;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312553;SAVANT_GENE=PODN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PODN" target="_blank">PODN</a>;SAVANT_INFO=+/23.3kb/11/3.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1559T>C_p.Val520Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PODN+c.1559T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53544597">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:59:621,59,0:42	1|1:0,32:32:96:1076,96,0:42	1|1:0,14:14:42:504,42,0:42
1	53553702	.	A	G	5621.94	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1288400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1288400" target="_blank">rs1288400</a>;ExAC.Info.AC=124295;ExAC.Info.AN=126398;ExAC.Info.AF=0.983;ExAC.Info.AC_Het=1718;ExAC.Info.AC_Hom=58101;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser554Ser/c.1662T>C;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=SLC1A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A7" target="_blank">SLC1A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371494;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371494;SAVANT_GENE=SLC1A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A7" target="_blank">SLC1A7</a>;SAVANT_INFO=-/55.4kb/11/2.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1662T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC1A7+c.1662T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53553702">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,18:18:54:645,54,0:25	1|1:0,23:23:69:776,69,0:25	1|1:1,20:21:25:684,25,0:25
1	53553754	.	T	C	8194.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1288401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1288401" target="_blank">rs1288401</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=75011;ExAC.Info.AN=126672;ExAC.Info.AF=0.592;ExAC.Info.AC_Het=26243;ExAC.Info.AC_Hom=24133;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln537Arg/c.1610A>G;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=SLC1A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A7" target="_blank">SLC1A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371494;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371494;SAVANT_GENE=SLC1A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A7" target="_blank">SLC1A7</a>;SAVANT_INFO=-/55.4kb/11/2.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1610A>G_p.Gln537Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC1A7+c.1610A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53553754">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:911,81,0:80	1|1:0,36:36:99:1293,108,0:80	1|1:0,27:27:81:1023,81,0:80
1	53555783	.	A	C	8309.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1288403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1288403" target="_blank">rs1288403</a>;ExAC.Info.AC=30381;ExAC.Info.AN=45476;ExAC.Info.AF=0.668;ExAC.Info.AC_Het=427;ExAC.Info.AC_Hom=973;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1227-177T>G;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=SLC1A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A7" target="_blank">SLC1A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371494;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371494;SAVANT_GENE=SLC1A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A7" target="_blank">SLC1A7</a>;SAVANT_INFO=-/55.4kb/11/2.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1227-177T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC1A7+c.1227-177T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53555783">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,17:17:51:642,51,0:67	1|1:0,37:37:99:1456,111,0:67	1|1:1,34:35:68:1334,68,0:67
1	53558270	.	A	G	21118.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1288406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1288406" target="_blank">rs1288406</a>;ExAC.Info.AC=106379;ExAC.Info.AN=126694;ExAC.Info.AF=0.840;ExAC.Info.AC_Het=16581;ExAC.Info.AC_Hom=44800;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg329Arg/c.987T>C;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=SLC1A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A7" target="_blank">SLC1A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371494;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371494;SAVANT_GENE=SLC1A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A7" target="_blank">SLC1A7</a>;SAVANT_INFO=-/55.4kb/11/2.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.987T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC1A7+c.987T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53558270">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2331,204,0:127	1|1:0,88:88:99:2984,264,0:127	1|1:0,86:86:99:2923,258,0:127
1	53600078	.	A	G	648.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3737989;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737989" target="_blank">rs3737989</a>;ExAC.Info.AC=22733;ExAC.Info.AN=126702;ExAC.Info.AF=0.179;ExAC.Info.AC_Het=17705;ExAC.Info.AC_Hom=2367;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro53Pro/c.159T>C;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=SLC1A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A7" target="_blank">SLC1A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371494;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371494;SAVANT_GENE=SLC1A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A7" target="_blank">SLC1A7</a>;SAVANT_INFO=-/55.4kb/11/2.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.159T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC1A7+c.159T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53600078">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1530:127	0|0:69,0:69:99:0,207,2364:127	0|1:29,14:43:99:343,0,875:127
1	53662823	.	C	A	3818.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3)|Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3);dbSNP139.ID=rs72673121;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72673121" target="_blank">rs72673121</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.152+56C>A;snpeff.Amino_Acid_length=658;snpeff.Gene_Name=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPT2" target="_blank">CPT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371486;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153C>A;snpeff.Amino_Acid_length=658;snpeff.Gene_Name=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPT2" target="_blank">CPT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371486;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153C>A;snpeff.Amino_Acid_length=658;snpeff.Gene_Name=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPT2" target="_blank">CPT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371486;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153C>A;snpeff.Amino_Acid_length=658;snpeff.Gene_Name=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPT2" target="_blank">CPT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371486;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153C>A;snpeff.Amino_Acid_length=658;snpeff.Gene_Name=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPT2" target="_blank">CPT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371486;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371486;SAVANT_GENE=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPT2" target="_blank">CPT2</a>;SAVANT_INFO=+/17.8kb/5/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.152+56C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPT2+c.152+56C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53662823">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,25:61:99:573,0,1081:127	1|0:30,29:59:99:790,0,944:127	0|0:72,0:72:99:0,216,2321:127
1	53676448	.	G	A	38747.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=590;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3)|Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1799821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799821" target="_blank">rs1799821</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Carnitine_palmitoyltransferase_2_deficiency;hgmd_2014.2.OMIM_ID=600650;hgmd_2014.2.PubMed=23700290;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23700290" target="_blank">23700290</a>;ExAC.Info.AC=61556;ExAC.Info.AN=126704;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=29236;ExAC.Info.AC_Hom=16134;Clinvar.ClinicalSignificance=Benign|risk_factor;Clinvar.RCVaccession=RCV000023026|RCV000124601|RCV000078116;Clinvar.PhenotypeIDs=MedGen:C3280160|OMIM:614212|Orphanet:ORPHA263524|MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.436-232C>T;snpeff.Gene_Name=RP5-1024G6.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1024G62" target="_blank">RP5-1024G62</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000452466;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102G>A;snpeff.Amino_Acid_length=658;snpeff.Gene_Name=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1024G62" target="_blank">RP5-1024G62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371486;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102G>A;snpeff.Amino_Acid_length=658;snpeff.Gene_Name=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1024G62" target="_blank">RP5-1024G62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371486;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val368Ile/c.1102G>A;snpeff.Amino_Acid_length=658;snpeff.Gene_Name=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1024G62" target="_blank">RP5-1024G62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371486;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371486;SAVANT_GENE=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPT2" target="_blank">CPT2</a>;SAVANT_INFO=+/17.8kb/5/3.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1102G>A_p.Val368Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPT2+c.1102G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53676448">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023026%20OR%20RCV000124601%20OR%20RCV000078116" target="_blank">Benign|risk_factor</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,175:175:99:6185,526,0:127	1|1:0,232:232:99:8612,698,0:127	1|0:98,85:183:99:2331,0,3008:127
1	53679229	.	A	G	9722.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3)|Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1799822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799822" target="_blank">rs1799822</a>;ExAC.Info.AC=20449;ExAC.Info.AN=126704;ExAC.Info.AF=0.161;ExAC.Info.AC_Het=16578;ExAC.Info.AC_Hom=1928;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124602|RCV000078120;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.219T>C;snpeff.Gene_Name=RP5-1024G6.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1024G62" target="_blank">RP5-1024G62</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000452466;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1939A>G;snpeff.Amino_Acid_length=658;snpeff.Gene_Name=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1024G62" target="_blank">RP5-1024G62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371486;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1939A>G;snpeff.Amino_Acid_length=658;snpeff.Gene_Name=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1024G62" target="_blank">RP5-1024G62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371486;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met647Val/c.1939A>G;snpeff.Amino_Acid_length=658;snpeff.Gene_Name=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1024G62" target="_blank">RP5-1024G62</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371486;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371486;SAVANT_GENE=CPT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPT2" target="_blank">CPT2</a>;SAVANT_INFO=+/17.8kb/5/3.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1939A>G_p.Met647Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPT2+c.1939A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53679229">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124602%20OR%20RCV000078120" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:63,48:111:99:1363,0,1791:127	1|0:86,96:182:99:2615,0,2388:127	0|0:141,0:141:99:0,424,4792:127
1	53681699	.	T	G	4690.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3)|Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1134688;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1134688" target="_blank">rs1134688</a>;ExAC.Info.AC=20378;ExAC.Info.AN=126704;ExAC.Info.AF=0.161;ExAC.Info.AC_Het=16514;ExAC.Info.AC_Hom=1924;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcC;snpeff.Amino_Acid_Change=p.Ser123Ser/c.369A>C;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=C1orf123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf123" target="_blank">C1orf123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294360;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294360;SAVANT_GENE=C1orf123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf123" target="_blank">C1orf123</a>;SAVANT_INFO=-/6.5kb/8/1.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.369A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf123+c.369A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53681699">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,37:67:99:1119,0,866:127	1|0:37,34:71:99:980,0,1025:127	0|0:49,0:49:99:0,147,1705:127
1	53683908	.	G	C	4410.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3)|Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3);dbSNP139.ID=rs72673130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72673130" target="_blank">rs72673130</a>;ExAC.Info.AC=2;ExAC.Info.AN=126698;ExAC.Info.AF=1.579e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.230-33C>G;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=C1orf123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf123" target="_blank">C1orf123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294360;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294360;SAVANT_GENE=C1orf123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf123" target="_blank">C1orf123</a>;SAVANT_INFO=-/6.5kb/8/1.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.230-33C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf123+c.230-33C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53683908">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,21:39:99:678,0,498:127	1|0:29,36:65:99:1075,0,839:127	0|0:45,0:45:99:0,135,1559:127
1	53683921	.	C	G	3899.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3)|Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3);dbSNP139.ID=rs12140585;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12140585" target="_blank">rs12140585</a>;ExAC.Info.AC=37124;ExAC.Info.AN=126682;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=24681;ExAC.Info.AC_Hom=6021;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.230-46G>C;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=C1orf123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf123" target="_blank">C1orf123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294360;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294360;SAVANT_GENE=C1orf123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf123" target="_blank">C1orf123</a>;SAVANT_INFO=-/6.5kb/8/1.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.230-46G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf123+c.230-46G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53683921">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,19:36:99:501,0,513:127	0/1:32,28:60:99:737,0,832:127	0/1:18,15:33:99:384,0,544:127
1	53684525	.	C	G	13989.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3)|Myopathy_due_to_CPT_II_deficiency|_255110_(3)|_CPT_deficiency|_hepatic|_type_II|_600649_(3)|_CPT_II_deficiency|_lethal_neonatal|_608836_(3)|_{Encephalopathy|_acute|_infection-induced|_4|_susceptibility_to}|_614212_(3);dbSNP139.ID=rs436887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=436887" target="_blank">rs436887</a>;ExAC.Info.AC=97383;ExAC.Info.AN=126690;ExAC.Info.AF=0.769;ExAC.Info.AC_Het=21021;ExAC.Info.AC_Hom=38165;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.147+14G>C;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=C1orf123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf123" target="_blank">C1orf123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294360;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294360;SAVANT_GENE=C1orf123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf123" target="_blank">C1orf123</a>;SAVANT_INFO=-/6.5kb/8/1.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.147+14G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf123+c.147+14G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53684525">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2354,213,0:127	1|1:0,80:80:99:2622,239,0:127	1|0:28,34:62:99:1010,0,757:127
1	53699129	.	G	C	1242.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17192655;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17192655" target="_blank">rs17192655</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.258+85C>G;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=MAGOH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGOH" target="_blank">MAGOH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371470;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259G>C;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=MAGOH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGOH" target="_blank">MAGOH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371470;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259G>C;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=MAGOH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGOH" target="_blank">MAGOH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371470;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371470;SAVANT_GENE=MAGOH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGOH" target="_blank">MAGOH</a>;SAVANT_INFO=-/11.7kb/5/0.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.258+85C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAGOH+c.258+85C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53699129">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,855:74	0|1:17,21:38:99:640,0,518:74	0|0:45,0:45:99:0,135,1476:74
1	53712727	.	C	T	21724.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|P|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs5174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5174" target="_blank">rs5174</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Coronary_artery_disease|_association_with;hgmd_2014.2.OMIM_ID=602600;hgmd_2014.2.PubMed=17847002;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17847002" target="_blank">17847002</a>;ExAC.Info.AC=37591;ExAC.Info.AN=126700;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=23610;ExAC.Info.AC_Hom=6932;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000007411;Clinvar.PhenotypeIDs=MedGen:C1838021|OMIM:608446;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2855C>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2855C>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2855C>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2855G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg952Gln/c.2855G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306052;SAVANT_GENE=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;SAVANT_INFO=-/82.5kb/19/4.5kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2855G>A_p.Arg952Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP8+c.2855G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53712727">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007411" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3756,319,0:127	1|1:0,108:108:99:3878,325,0:127	1|0:62,50:112:99:1508,0,1793:127
1	53716416	.	G	A	54084.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=921;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3737983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737983" target="_blank">rs3737983</a>;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2622G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2622G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2622G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp874Asp/c.2622C>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306052;SAVANT_GENE=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;SAVANT_INFO=-/82.5kb/19/4.5kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2622C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP8+c.2622C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53716416">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,296:297:99:9441,854,0:127	1|1:0,336:336:99:11365,1012,0:127	1|0:156,132:288:99:3589,0,4368:127
1	53723190	.	G	T	7747.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs869987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=869987" target="_blank">rs869987</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2210-54C>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306052;SAVANT_GENE=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;SAVANT_INFO=-/82.5kb/19/4.5kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2210-54C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP8+c.2210-54C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53723190">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1312,111,0:110	1|1:0,44:44:99:1633,132,0:110	1|0:15,12:27:99:328,0,445:110
1	53732315	.	G	T	29479.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2297660;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297660" target="_blank">rs2297660</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Foetal_growth_restriction|_lower_risk|_association;hgmd_2014.2.OMIM_ID=602600;hgmd_2014.2.PubMed=16642433;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16642433" target="_blank">16642433</a>;ExAC.Info.AC=48405;ExAC.Info.AN=126700;ExAC.Info.AF=0.382;ExAC.Info.AC_Het=28104;ExAC.Info.AC_Hom=10135;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1257G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly419Gly/c.1257C>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306052;SAVANT_GENE=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;SAVANT_INFO=-/82.5kb/19/4.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1257C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP8+c.1257C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53732315">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,139:139:99:4599,418,0:127	1|1:0,167:167:99:5610,502,0:127	1|0:59,69:128:99:1919,0,1683:127
1	53742506	.	A	G	5358.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs56300220;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56300220" target="_blank">rs56300220</a>;ExAC.Info.AC=1176;ExAC.Info.AN=11508;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=161;ExAC.Info.AC_Hom=20;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.741A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg247Arg/c.741T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306052;SAVANT_GENE=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;SAVANT_INFO=-/82.5kb/19/4.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.741T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP8+c.741T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53742506">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:876,69,0:67	1|1:0,24:24:72:970,72,0:67	1|0:13,10:23:99:338,0,386:67
1	53746134	.	G	A	23548.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1288518;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1288518" target="_blank">rs1288518</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.496+125C>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LDL-receptor_class_A_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LDL-receptor_class_A_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306052;SAVANT_GENE=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;SAVANT_INFO=-/82.5kb/19/4.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.496+125C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP8+c.496+125C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53746134">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4254,388,0:127	1|1:0,124:124:99:4190,372,0:127	1|0:63,44:107:99:1225,0,1739:127
1	53755151	.	T	C	8639.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs12035577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12035577" target="_blank">rs12035577</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.448T>C;snpeff.Gene_Name=RP4-784A16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421637;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.367+88A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LDL-receptor_class_A_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LDL-receptor_class_A_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-784A162" target="_blank">RP4-784A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306052;SAVANT_GENE=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;SAVANT_INFO=-/82.5kb/19/4.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.367+88A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP8+c.367+88A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53755151">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1053,96,0:95	1|1:0,47:47:99:1725,141,0:95	1|0:22,7:29:99:171,0,620:95
1	53792651	.	A	C	14134.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3820198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820198" target="_blank">rs3820198</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Plasma_cholesterol_levels|_association_with;hgmd_2014.2.OMIM_ID=602600;hgmd_2014.2.PubMed=21316997;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21316997" target="_blank">21316997</a>;ExAC.Info.AC=52047;ExAC.Info.AN=126654;ExAC.Info.AF=0.411;ExAC.Info.AC_Het=27828;ExAC.Info.AC_Hom=11993;snpeff.Effect=sequence_feature[domain:LDL-receptor_class_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LDL-receptor_class_A_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaG;snpeff.Amino_Acid_Change=p.Asp46Glu/c.138T>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306052;SAVANT_GENE=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;SAVANT_INFO=-/82.5kb/19/4.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.138T>G_p.Asp46Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP8+c.138T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53792651">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,57:125:99:1685,0,1829:127	0/1:80,77:157:99:2504,0,2237:127	0/1:46,50:96:99:1454,0,1349:127
1	53793511	.	T	C	1568.29	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=72;MQ=70.38;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4926972;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4926972" target="_blank">rs4926972</a>;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln25Arg/c.74A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306052;SAVANT_GENE=LRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP8" target="_blank">LRP8</a>;SAVANT_INFO=-/82.5kb/19/4.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.74A>G_p.Gln25Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP8+c.74A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53793511">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,6:24:99:115,0,589:115	0/1:14,8:22:99:216,0,470:115	0/1:19,7:26:99:197,0,651:115
1	53974987	.	G	T	4174.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10749691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10749691" target="_blank">rs10749691</a>;ExAC.Info.AC=79734;ExAC.Info.AN=118436;ExAC.Info.AF=0.673;ExAC.Info.AC_Het=7607;ExAC.Info.AC_Hom=10767;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1538-27C>A;snpeff.Amino_Acid_length=620;snpeff.Gene_Name=GLIS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLIS1" target="_blank">GLIS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312233;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312233;SAVANT_GENE=GLIS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLIS1" target="_blank">GLIS1</a>;SAVANT_INFO=-/228.0kb/10/2.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1538-27C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLIS1+c.1538-27C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53974987">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,14:32:99:363,0,465:127	0/1:25,23:48:99:615,0,780:127	0/1:21,22:43:99:620,0,566:127
1	53975547	.	T	G	106.2	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=47;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=595;ExAC.Info.AN=116026;ExAC.Info.AF=5.128e-03;ExAC.Info.AC_Het=425;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1512T>G;snpeff.Amino_Acid_length=620;snpeff.Gene_Name=GLIS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLIS1" target="_blank">GLIS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312233;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro504Pro/c.1512A>C;snpeff.Amino_Acid_length=620;snpeff.Gene_Name=GLIS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLIS1" target="_blank">GLIS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312233;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312233;SAVANT_GENE=GLIS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLIS1" target="_blank">GLIS1</a>;SAVANT_INFO=-/228.0kb/10/2.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1512A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLIS1+c.1512A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:53975547">View</a>	GT:AD:DP:GQ:PL:TP	0|0:10,1:11:23:0,23,353:22	0|1:16,8:24:29:29,0,429:22	0|1:8,4:12:44:44,0,217:22
1	54060016	.	G	C	5379.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35227000;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35227000" target="_blank">rs35227000</a>;ExAC.Info.AC=34793;ExAC.Info.AN=125622;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=22541;ExAC.Info.AC_Hom=5043;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gGa;snpeff.Amino_Acid_Change=p.Ala187Gly/c.560C>G;snpeff.Amino_Acid_length=620;snpeff.Gene_Name=GLIS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLIS1" target="_blank">GLIS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312233;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312233;SAVANT_GENE=GLIS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLIS1" target="_blank">GLIS1</a>;SAVANT_INFO=-/228.0kb/10/2.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.560C>G_p.Ala187Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLIS1+c.560C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54060016">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,30:55:99:1042,0,852:127	0|0:75,0:75:99:0,226,3073:127	1|0:33,33:66:99:1077,0,1092:127
1	54060248	.	T	C	6236.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4307514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4307514" target="_blank">rs4307514</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=34659;ExAC.Info.AN=125688;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=22863;ExAC.Info.AC_Hom=5256;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acg/Gcg;snpeff.Amino_Acid_Change=p.Thr110Ala/c.328A>G;snpeff.Amino_Acid_length=620;snpeff.Gene_Name=GLIS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLIS1" target="_blank">GLIS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312233;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312233;SAVANT_GENE=GLIS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLIS1" target="_blank">GLIS1</a>;SAVANT_INFO=-/228.0kb/10/2.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.328A>G_p.Thr110Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLIS1+c.328A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54060248">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,35:64:99:1156,0,768:127	0|0:84,0:84:99:0,252,2861:127	1|0:32,32:64:99:963,0,896:127
1	54258880	.	C	T	4643.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2273139;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273139" target="_blank">rs2273139</a>;ExAC.Info.AC=16259;ExAC.Info.AN=126700;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=13676;ExAC.Info.AC_Hom=1286;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1635+22G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371429;SAVANT_GENE=TMEM48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM48" target="_blank">TMEM48</a>;SAVANT_INFO=-/73.4kb/18/5.1kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1635+22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM48+c.1635+22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54258880">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,34:64:99:960,0,803:127	0|0:84,0:84:99:0,252,2951:127	1|0:31,35:66:99:993,0,872:127
1	54284814	.	C	T	3649.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12089209;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12089209" target="_blank">rs12089209</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.595-62G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.595C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.595C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371429;SAVANT_GENE=TMEM48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM48" target="_blank">TMEM48</a>;SAVANT_INFO=-/73.4kb/18/5.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.595-62G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM48+c.595-62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54284814">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,39:67:99:1082,0,773:127	0|0:74,0:74:99:0,222,2484:127	1|0:28,22:50:99:635,0,810:127
1	54298297	.	T	C	5237.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72662336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72662336" target="_blank">rs72662336</a>;ExAC.Info.AC=14647;ExAC.Info.AN=126652;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=12442;ExAC.Info.AC_Hom=974;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.179-33A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Perinuclear_space];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Perinuclear_space];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=NDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDC1" target="_blank">NDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371429;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371429;SAVANT_GENE=TMEM48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM48" target="_blank">TMEM48</a>;SAVANT_INFO=-/73.4kb/18/5.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.179-33A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM48+c.179-33A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54298297">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,35:70:99:1063,0,903:127	0|0:65,0:65:99:0,195,2120:127	1|0:33,39:72:99:1046,0,850:127
1	54344282	.	C	A	14742.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2272928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272928" target="_blank">rs2272928</a>;ExAC.Info.AC=76302;ExAC.Info.AN=126680;ExAC.Info.AF=0.602;ExAC.Info.AC_Het=28649;ExAC.Info.AC_Hom=23637;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.351+33G>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=YIPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YIPF1" target="_blank">YIPF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539954;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000072644;SAVANT_GENE=YIPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YIPF1" target="_blank">YIPF1</a>;SAVANT_INFO=-/38.0kb/11/1.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.276+33G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YIPF1+c.276+33G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54344282">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2713,246,0:127	1|0:34,44:78:99:1410,0,1117:127	1|1:0,76:76:99:2773,228,0:127
1	54354658	.	T	G	5430.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2294508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294508" target="_blank">rs2294508</a>;ExAC.Info.AC=27689;ExAC.Info.AN=126682;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=20970;ExAC.Info.AC_Hom=3253;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28A>C;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=YIPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YIPF1" target="_blank">YIPF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539954;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Ccc;snpeff.Amino_Acid_Change=p.Thr10Pro/c.28A>C;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=YIPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YIPF1" target="_blank">YIPF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539954;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000072644;SAVANT_GENE=YIPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YIPF1" target="_blank">YIPF1</a>;SAVANT_INFO=-/38.0kb/11/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-48A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YIPF1+c.-48A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54354658">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,33:71:99:1109,0,1131:127	0|0:93,0:93:99:0,279,3302:127	1|0:36,37:73:99:1166,0,1042:127
1	54356106	.	G	A	5724.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6656722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6656722" target="_blank">rs6656722</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.26+118C>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=YIPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YIPF1" target="_blank">YIPF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539954;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YIPF1" target="_blank">YIPF1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=YIPF1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54356106">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,45:93:99:1299,0,1598:127	0|0:117,0:117:99:0,358,4910:127	1|0:62,35:97:99:943,0,2042:127
1	54356113	.	C	T	3764.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61774833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61774833" target="_blank">rs61774833</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.26+111G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=YIPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YIPF1" target="_blank">YIPF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539954;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YIPF1" target="_blank">YIPF1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=YIPF1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54356113">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,295,4067:127	0|1:65,68:133:99:1901,0,1948:127	0|0:106,0:106:99:0,319,4229:127
1	54370306	.	G	A	13432.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2294512;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294512" target="_blank">rs2294512</a>;ExAC.Info.AC=41982;ExAC.Info.AN=125324;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=26216;ExAC.Info.AC_Hom=7774;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.338-33G>A;snpeff.Amino_Acid_length=249;snpeff.Gene_Name=DIO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIO1" target="_blank">DIO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361921;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361921;SAVANT_GENE=DIO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIO1" target="_blank">DIO1</a>;SAVANT_INFO=+/16.9kb/4/1.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.338-33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIO1+c.338-33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54370306">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,47:84:99:1294,0,1078:127	0|1:50,56:106:99:1597,0,1597:127	1|1:0,94:94:99:3279,283,0:127
1	54375570	.	C	A	22202.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=465;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2235544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2235544" target="_blank">rs2235544</a>;ExAC.Info.AC=65848;ExAC.Info.AN=126696;ExAC.Info.AF=0.520;ExAC.Info.AC_Het=29462;ExAC.Info.AC_Hom=18133;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.682-34C>A;snpeff.Amino_Acid_length=249;snpeff.Gene_Name=DIO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIO1" target="_blank">DIO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361921;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361921;SAVANT_GENE=DIO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIO1" target="_blank">DIO1</a>;SAVANT_INFO=+/16.9kb/4/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.682-34C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIO1+c.682-34C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54375570">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,74:136:99:2045,0,1691:127	0|1:87,101:188:99:2799,0,2715:127	1|1:0,141:141:99:4800,424,0:127
1	54375701	.	C	T	3008.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11206244;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11206244" target="_blank">rs11206244</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Higher_plasma_rT3;hgmd_2014.2.OMIM_ID=147892;hgmd_2014.2.PubMed=12788902;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12788902" target="_blank">12788902</a>;ExAC.Info.AC=44602;ExAC.Info.AN=126698;ExAC.Info.AF=0.352;ExAC.Info.AC_Het=27145;ExAC.Info.AC_Hom=8704;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=29;snpeff.Amino_Acid_Change=c.*29C>T;snpeff.Amino_Acid_length=249;snpeff.Gene_Name=DIO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIO1" target="_blank">DIO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361921;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361921;SAVANT_GENE=DIO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIO1" target="_blank">DIO1</a>;SAVANT_INFO=+/16.9kb/4/1.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*29C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIO1+c.*29C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54375701">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,10:26:99:256,0,491:116	0|0:50,1:51:99:0,117,1876:116	1|0:21,24:45:99:701,0,659:116
1	54513132	.	T	C	5171.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41296145;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41296145" target="_blank">rs41296145</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190-87A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TMEM59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM59" target="_blank">TMEM59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234831;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TMEM59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM59" target="_blank">TMEM59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234831;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TMEM59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM59" target="_blank">TMEM59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234831;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TMEM59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM59" target="_blank">TMEM59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234831;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TMEM59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM59" target="_blank">TMEM59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234831;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TMEM59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM59" target="_blank">TMEM59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234831;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TMEM59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM59" target="_blank">TMEM59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234831;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TMEM59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM59" target="_blank">TMEM59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234831;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234831;SAVANT_GENE=TMEM59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM59" target="_blank">TMEM59</a>;SAVANT_INFO=-/21.8kb/8/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.190-87A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM59+c.190-87A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54513132">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,31:72:99:928,0,1059:127	1|0:43,42:85:99:1306,0,1284:127	0|0:59,0:59:99:0,177,2005:127
1	54561916	.	C	T	6652.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7555099;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7555099" target="_blank">rs7555099</a>;ExAC.Info.AC=56229;ExAC.Info.AN=126498;ExAC.Info.AF=0.445;ExAC.Info.AC_Het=27248;ExAC.Info.AC_Hom=13451;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.529-42C>T;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=TCEANC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEANC2" target="_blank">TCEANC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234827;SAVANT_GENE=TCEANC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCEANC2" target="_blank">TCEANC2</a>;SAVANT_INFO=+/46.1kb/5/4.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.439-42C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCEANC2+c.439-42C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54561916">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,47:89:99:1422,0,1195:127	0|0:87,2:89:99:0,193,3209:127	1|0:41,44:85:99:1283,0,1209:127
1	54605318	.	T	TGG	5496.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=177;MQ=70.30;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3841798;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3841798" target="_blank">rs3841798</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.OMIM_ID=612320;hgmd_2014.2.PubMed=23468869;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23468869" target="_blank">23468869</a>;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=ccc/cccCC;snpeff.Amino_Acid_Change=p.Pro408_Met409fs/c.1224_1225insCC;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCP2" target="_blank">CDCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371330;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;LOF=(CDCP2|ENSG00000157211|1|1.00);TYPE=Insertion;SAVANT_ENST=ENST00000371330;SAVANT_GENE=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCP2" target="_blank">CDCP2</a>;SAVANT_INFO=-/14.8kb/4/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1223_1224dupCC;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDCP2+c.1223_1224dupCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54605318">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,24:70:99:792,0,1752:127	0/1:38,23:61:99:733,0,1276:127	0/1:26,20:46:99:637,0,999:127
1	54605319	.	G	GC	6682.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=189;MQ=70.31;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs36013100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36013100" target="_blank">rs36013100</a>;ExAC.Info.AC=71715;ExAC.Info.AN=108056;ExAC.Info.AF=0.664;ExAC.Info.AC_Het=30002;ExAC.Info.AC_Hom=20667;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=ccc/ccGc;snpeff.Amino_Acid_Change=p.Pro408_Met409fs/c.1223_1224insG;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCP2" target="_blank">CDCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371330;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;LOF=(CDCP2|ENSG00000157211|1|1.00);TYPE=Insertion;SAVANT_ENST=ENST00000371330;SAVANT_GENE=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCP2" target="_blank">CDCP2</a>;SAVANT_INFO=-/14.8kb/4/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1223_1224insG;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDCP2+c.1223_1224insG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54605319">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,46:75:99:1145,0,1038:127	0/1:29,36:65:99:963,0,1010:127	0/1:23,26:49:99:745,0,850:127
1	54606804	.	C	T	11282.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3766465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766465" target="_blank">rs3766465</a>;ExAC.Info.AC=102542;ExAC.Info.AN=124468;ExAC.Info.AF=0.824;ExAC.Info.AC_Het=16025;ExAC.Info.AC_Hom=39018;snpeff.Effect=sequence_feature[domain:CUB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730C>T;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCP2" target="_blank">CDCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371330;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730C>T;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCP2" target="_blank">CDCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371330;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly244Arg/c.730G>A;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCP2" target="_blank">CDCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371330;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371330;SAVANT_GENE=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCP2" target="_blank">CDCP2</a>;SAVANT_INFO=-/14.8kb/4/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.730G>A_p.Gly244Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDCP2+c.730G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54606804">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,51:93:99:1490,0,1135:127	0/1:55,62:117:99:1844,0,1607:127	0/1:55,40:95:99:1172,0,1650:127
1	54607051	.	A	G	30507.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs671103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=671103" target="_blank">rs671103</a>;ExAC.Info.AC=126595;ExAC.Info.AN=126696;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=97;ExAC.Info.AC_Hom=63124;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.393T>C;snpeff.Gene_Name=RP11-446E24.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-446E244" target="_blank">RP11-446E244</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000525949;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.483A>G;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-446E244" target="_blank">RP11-446E244</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371330;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.483A>G;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-446E244" target="_blank">RP11-446E244</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371330;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.483A>G;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-446E244" target="_blank">RP11-446E244</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371330;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr161Tyr/c.483T>C;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-446E244" target="_blank">RP11-446E244</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371330;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371330;SAVANT_GENE=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCP2" target="_blank">CDCP2</a>;SAVANT_INFO=-/14.8kb/4/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.483T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDCP2+c.483T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54607051">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:4184,349,0:127	1|1:0,140:140:99:5122,421,0:127	1|1:0,77:77:99:2897,232,0:127
1	54618435	.	A	T	20956.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7528345;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7528345" target="_blank">rs7528345</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.93-7949T>A;snpeff.Gene_Name=RP11-446E24.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-446E244" target="_blank">RP11-446E244</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000525949;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.79+82T>A;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-446E244" target="_blank">RP11-446E244</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371330;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371330;SAVANT_GENE=CDCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDCP2" target="_blank">CDCP2</a>;SAVANT_INFO=-/14.8kb/4/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.79+82T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDCP2+c.79+82T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54618435">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3343,286,0:127	1|1:0,83:83:99:2988,249,0:127	1|1:0,64:64:99:2352,192,0:127
1	54636977	.	T	C	6636.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10493175;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10493175" target="_blank">rs10493175</a>;ExAC.Info.AC=3546;ExAC.Info.AN=39702;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=1726;ExAC.Info.AC_Hom=165;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.92+1299A>G;snpeff.Gene_Name=RP11-446E24.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-446E244" target="_blank">RP11-446E244</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000525949;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val56Val/c.168A>G;snpeff.Amino_Acid_length=126;snpeff.Gene_Name=AL357673.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-446E244" target="_blank">RP11-446E244</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536061;SAVANT_GENE=AL357673.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3576731" target="_blank">AL3576731</a>;SAVANT_INFO=-/2.7kb/1/2.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.168A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3576731+c.168A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54636977">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,36:83:99:1076,0,1274:127	0|0:97,0:97:99:0,291,3176:127	1|0:47,51:98:99:1597,0,1346:127
1	54681920	.	G	C	15593.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13571" target="_blank">rs13571</a>;ExAC.Info.AC=86201;ExAC.Info.AN=126704;ExAC.Info.AF=0.680;ExAC.Info.AC_Het=25374;ExAC.Info.AC_Hom=30411;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tCt;snpeff.Amino_Acid_Change=p.Cys366Ser/c.1097G>C;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=MRPL37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL37" target="_blank">MRPL37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000605337;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360840;SAVANT_GENE=MRPL37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL37" target="_blank">MRPL37</a>;SAVANT_INFO=+/18.2kb/7/1.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1097G>C_p.Cys366Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL37+c.1097G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54681920">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1816,150,0:127	1|1:0,66:66:99:2363,198,0:127	1|1:0,57:57:99:2135,171,0:127
1	54686374	.	T	C	12097.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs612711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=612711" target="_blank">rs612711</a>;ExAC.Info.AC=13844;ExAC.Info.AN=23352;ExAC.Info.AF=0.593;ExAC.Info.AC_Het=4237;ExAC.Info.AC_Hom=3970;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1194+4357T>C;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=MRPL37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL37" target="_blank">MRPL37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000605337;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL37" target="_blank">MRPL37</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL37+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54686374">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,50:120:99:1353,0,2037:127	0|0:119,0:119:99:0,358,4327:127	1|1:0,89:89:99:3298,268,0:127
1	54686464	.	C	T	10651.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=442;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs613158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=613158" target="_blank">rs613158</a>;ExAC.Info.AC=9996;ExAC.Info.AN=23156;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=4545;ExAC.Info.AC_Hom=2220;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1195-4334C>T;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=MRPL37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL37" target="_blank">MRPL37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000605337;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL37" target="_blank">MRPL37</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL37+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54686464">View</a>	GT:AD:DP:GQ:PL:TP	1|0:83,59:142:99:1550,0,2301:127	0|0:158,0:158:99:0,475,5426:127	1|0:59,83:142:99:2488,0,1690:127
1	54690954	.	T	C	8731.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3088379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3088379" target="_blank">rs3088379</a>;ExAC.Info.AC=2376;ExAC.Info.AN=7094;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=518;ExAC.Info.AC_Hom=254;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttt/Ctt;snpeff.Amino_Acid_Change=p.Phe451Leu/c.1351T>C;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=MRPL37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL37" target="_blank">MRPL37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000605337;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL37" target="_blank">MRPL37</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL37+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54690954">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,60:108:99:1877,0,1370:127	0|0:120,0:120:99:0,361,4311:127	1|0:39,47:86:99:1420,0,1047:127
1	54707070	.	G	T	6185.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72664198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72664198" target="_blank">rs72664198</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.801+77C>A;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802G>T;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371320;SAVANT_GENE=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;SAVANT_INFO=-/179.8kb/18/2.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.801+77C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SSBP3+c.801+77C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54707070">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,37:80:99:985,0,1163:127	1|0:52,47:99:99:1344,0,1458:127	0|0:118,0:118:99:0,354,3770:127
1	54870494	.	T	G	25.73	LowQual	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=52;MQ=70.00;MQ0=0;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;ExAC.Info.AC=1765;ExAC.Info.AN=106912;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=1077;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.129+37A>C;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LisH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130T>G;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LisH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130T>G;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LisH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130T>G;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371320;SAVANT_GENE=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;SAVANT_INFO=-/179.8kb/18/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.129+37A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SSBP3+c.129+37A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54870494">View</a>	GT:AD:DP:GQ:PL:TP	1|0:6,6:12:56:56,0,130:31	0|0:17,1:18:39:0,39,352:31	1|0:17,5:22:1:0,6,428:31
1	54871566	.	ACCGC	A	630.98	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=9;MQ=68.89;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.56+56_56+59delGCGG;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LisH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57_60delCCGC;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LisH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57_60delCCGC;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LisH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57_60delCCGC;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.57_60delCCGC;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.57_60delCCGC;snpeff.Amino_Acid_length=388;snpeff.Gene_Name=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371320;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371320;SAVANT_GENE=SSBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSBP3" target="_blank">SSBP3</a>;SAVANT_INFO=-/179.8kb/18/2.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.56+56_56+59delGCGG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SSBP3+c.56+56_56+59delGCGG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:54871566">View</a>	GT:AD:DP:GQ:PL:TP	1|0:1,1:2:39:39,0,53:6	0|0:2,0:2:6:0,6,104:6	1|1:0,5:5:15:225,15,0:6
1	55014099	.	C	T	3142.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs299874;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=299874" target="_blank">rs299874</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.33+84C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371316;SAVANT_GENE=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;SAVANT_INFO=+/91.0kb/17/6.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.33+84C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT11+c.33+84C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55014099">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,15:33:99:573,0,731:59	1|1:0,20:20:60:888,60,0:59	0|0:34,0:34:99:0,105,1520:59
1	55014100	.	G	A	1068.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3753011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753011" target="_blank">rs3753011</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.33+85G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371316;SAVANT_GENE=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;SAVANT_INFO=+/91.0kb/17/6.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.33+85G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT11+c.33+85G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55014100">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,102,1380:62	0|0:19,0:19:63:0,63,936:62	0|1:13,19:32:99:553,0,359:62
1	55014102	.	T	C	3167.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12133271;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12133271" target="_blank">rs12133271</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.33+87T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371316;SAVANT_GENE=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;SAVANT_INFO=+/91.0kb/17/6.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.33+87T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT11+c.33+87T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55014102">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,16:34:99:609,0,706:59	1|1:0,20:20:60:881,60,0:59	0|0:31,0:31:96:0,96,1440:59
1	55014160	.	C	T	1691.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs299872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=299872" target="_blank">rs299872</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.33+145C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371316;SAVANT_GENE=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;SAVANT_INFO=+/91.0kb/17/6.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.33+145C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT11+c.33+145C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55014160">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,11:22:99:313,0,325:44	1|1:0,15:15:45:540,45,0:44	0|0:18,0:18:54:0,54,667:44
1	55058160	.	G	T	3238.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17394626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17394626" target="_blank">rs17394626</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.312-59G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Acyl_coenzyme_A_hydrolase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Acyl_coenzyme_A_hydrolase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Acyl_coenzyme_A_hydrolase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Acyl_coenzyme_A_hydrolase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Acyl_coenzyme_A_hydrolase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371316;SAVANT_GENE=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;SAVANT_INFO=+/91.0kb/17/6.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.312-59G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT11+c.312-59G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55058160">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,2958:127	0|1:56,59:115:99:1638,0,1518:127	0|0:99,0:99:99:0,296,3364:127
1	55069986	.	T	C	4056.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=45;MQ=69.91;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs746503;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=746503" target="_blank">rs746503</a>;ExAC.Info.AC=73013;ExAC.Info.AN=126690;ExAC.Info.AF=0.576;ExAC.Info.AC_Het=30174;ExAC.Info.AC_Hom=21260;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1153-33T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371316;SAVANT_GENE=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;SAVANT_INFO=+/91.0kb/17/6.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1153-33T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT11+c.1153-33T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55069986">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:869,69,0:29	1|1:0,11:11:33:428,33,0:29	1|1:0,11:11:33:459,33,0:29
1	55075452	.	G	A	6194.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1368883;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1368883" target="_blank">rs1368883</a>;ExAC.Info.AC=52217;ExAC.Info.AN=126702;ExAC.Info.AF=0.412;ExAC.Info.AC_Het=28481;ExAC.Info.AC_Hom=11803;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1629+1711G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala416Val/c.1247C>T;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=FAM151A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11" target="_blank">ACOT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302250;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371316:ENST00000302250;SAVANT_GENE=ACOT11:FAM151A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11:FAM151A" target="_blank">ACOT11:FAM151A</a>;SAVANT_INFO=+/91.0kb/17/6.4kb:-/14.4kb/8/2.0kb;SAVANT_LOC=In15/16:Ex8;SAVANT_HGVS=c.1629+1711G>A:c.1247C>T_p.Ala416Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT11:FAM151A+c.1629+1711G>A:c.1247C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55075452">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,26:55:99:701,0,932:104	0|1:33,27:60:99:754,0,999:104	1|1:0,35:35:99:1273,105,0:104
1	55080612	.	G	GGTGTGT	3240.7	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=50;MQ=71.02;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs112970628;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112970628" target="_blank">rs112970628</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.416-80_416-81insACACAC;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=FAM151A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302250;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1629+6872_1629+6873insGTGTGT;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insGTGTGT;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insGTGTGT;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insGTGTGT;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insGTGTGT;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insGTGTGT;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insGTGTGT;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insGTGTGT;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630_1631insGTGTGT;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371316:ENST00000302250;SAVANT_GENE=ACOT11:FAM151A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11:FAM151A" target="_blank">ACOT11:FAM151A</a>;SAVANT_INFO=+/91.0kb/17/6.4kb:-/14.4kb/8/2.0kb;SAVANT_LOC=In15/16:In3/4;SAVANT_HGVS=c.1629+6881_1629+6886dup6:c.416-86_416-81dup6;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT11:FAM151A+c.1629+6881_1629+6886dup6:c.416-86_416-81dup6+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55080612">View</a>	GT:AD:DP:GQ:PL:TP	1|0:2,14:16:8:427,0,8:8	0|1:4,17:21:81:456,0,81:8	1|1:1,12:13:29:363,29,0:8
1	55085703	.	G	T	3396.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11583256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11583256" target="_blank">rs11583256</a>;ExAC.Info.AC=5153;ExAC.Info.AN=126684;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4855;ExAC.Info.AC_Hom=135;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.119-23C>A;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=FAM151A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302250;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1630-10704G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:START];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1630G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=ACOT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM151A" target="_blank">FAM151A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371316;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371316:ENST00000302250;SAVANT_GENE=ACOT11:FAM151A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACOT11:FAM151A" target="_blank">ACOT11:FAM151A</a>;SAVANT_INFO=+/91.0kb/17/6.4kb:-/14.4kb/8/2.0kb;SAVANT_LOC=In15/16:In1/2;SAVANT_HGVS=c.1630-10704G>T:c.119-23C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACOT11:FAM151A+c.1630-10704G>T:c.119-23C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55085703">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,18:42:99:512,0,708:110	1|0:23,30:53:99:894,0,575:110	0|0:37,0:37:99:0,111,1284:110
1	55118566	.	C	G	13885.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1655520;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1655520" target="_blank">rs1655520</a>;ExAC.Info.AC=121954;ExAC.Info.AN=123776;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1455;ExAC.Info.AC_Hom=55650;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=34;snpeff.Amino_Acid_Change=c.-34C>G;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7" target="_blank">MROH7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=34;snpeff.Amino_Acid_Change=n.-34C>G;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7" target="_blank">MROH7</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-34C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.-34C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55118566">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1473,141,0:123	1|1:0,70:70:99:2348,210,0:123	1|1:0,41:41:99:1453,123,0:123
1	55119144	.	A	G	3910.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11206407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11206407" target="_blank">rs11206407</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=40869;ExAC.Info.AN=125276;ExAC.Info.AF=0.326;ExAC.Info.AC_Het=26205;ExAC.Info.AC_Hom=7306;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.545A>G;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His182Arg/c.545A>G;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.545A>G_p.His182Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.545A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55119144">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,262,3063:127	0|1:62,71:133:99:1974,0,1749:127	0|0:107,0:107:99:0,322,3808:127
1	55119289	.	G	C	6556.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=615;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs9332417;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9332417" target="_blank">rs9332417</a>;ExAC.Info.AC=63627;ExAC.Info.AN=125320;ExAC.Info.AF=0.508;ExAC.Info.AC_Het=29356;ExAC.Info.AC_Hom=17086;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.690G>C;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu230Leu/c.690G>C;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.690G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.690G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55119289">View</a>	GT:AD:DP:GQ:PL:TP	0|0:181,0:181:99:0,544,6529:127	0|1:129,108:237:99:3297,0,3723:127	0|0:197,0:197:99:0,591,7070:127
1	55119515	.	T	G	29234.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=426;MQ=69.99;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1655519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1655519" target="_blank">rs1655519</a>;ExAC.Info.AC=48847;ExAC.Info.AN=126102;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=28907;ExAC.Info.AC_Hom=9857;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.916T>G;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>G;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Gat;snpeff.Amino_Acid_Change=p.Tyr306Asp/c.916T>G;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.916T>G_p.Tyr306Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.916T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55119515">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,134:134:99:4680,403,0:127	1|0:96,80:176:99:2199,0,2816:127	1|1:1,115:116:99:3967,306,0:127
1	55119546	.	A	G	36349.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=406;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1655518;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1655518" target="_blank">rs1655518</a>;ExAC.Info.AC=124373;ExAC.Info.AN=126010;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1381;ExAC.Info.AC_Hom=61096;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.947A>G;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947A>G;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu316Gly/c.947A>G;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.947A>G_p.Glu316Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.947A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55119546">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4547,396,0:127	1|1:0,170:170:99:5952,511,0:127	1|1:0,104:104:99:3897,313,0:127
1	55134487	.	G	A	32279.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=492;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs478513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=478513" target="_blank">rs478513</a>;ExAC.Info.AC=44712;ExAC.Info.AN=125348;ExAC.Info.AF=0.357;ExAC.Info.AC_Het=26922;ExAC.Info.AC_Hom=8825;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1306-40G>A;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7" target="_blank">MROH7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1306-40G>A;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7" target="_blank">MROH7</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1306-40G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.1306-40G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55134487">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,149:149:99:4925,448,0:127	1|0:93,98:191:99:2553,0,2519:127	1|1:0,152:152:99:5046,456,0:127
1	55136529	.	T	C	7488.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs480963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=480963" target="_blank">rs480963</a>;ExAC.Info.AC=45240;ExAC.Info.AN=125662;ExAC.Info.AF=0.360;ExAC.Info.AC_Het=26850;ExAC.Info.AC_Hom=8808;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1526T>C;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val509Ala/c.1526T>C;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1526T>C_p.Val509Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.1526T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55136529">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1183,102,0:86	1|0:25,19:44:99:527,0,671:86	1|1:0,29:29:87:969,87,0:86
1	55138914	.	G	T	414.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs584991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=584991" target="_blank">rs584991</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1695+55G>T;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7" target="_blank">MROH7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1695+55G>T;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7" target="_blank">MROH7</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1695+55G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.1695+55G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55138914">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,1:26:68:0,68,849:67	0|0:32,0:32:96:0,96,1163:67	0|1:11,9:20:99:226,0,293:67
1	55139741	.	A	G	11503.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs570218;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=570218" target="_blank">rs570218</a>;ExAC.Info.AC=105667;ExAC.Info.AN=125242;ExAC.Info.AF=0.844;ExAC.Info.AC_Het=15764;ExAC.Info.AC_Hom=44891;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1853A>G;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His618Arg/c.1853A>G;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1853A>G_p.His618Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.1853A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55139741">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1670,150,0:108	1|1:0,63:63:99:1971,189,0:108	1|1:0,36:36:99:1261,108,0:108
1	55152104	.	T	C	2530.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72669947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72669947" target="_blank">rs72669947</a>;ExAC.Info.AC=401;ExAC.Info.AN=125962;ExAC.Info.AF=3.183e-03;ExAC.Info.AC_Het=385;ExAC.Info.AC_Hom=8;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2694T>C;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser898Ser/c.2694T>C;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2694T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.2694T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55152104">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,2691:127	0|1:38,44:82:99:1284,0,1033:127	0|0:71,0:71:99:0,213,2333:127
1	55165942	.	G	A	5944.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2304310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2304310" target="_blank">rs2304310</a>;ExAC.Info.AC=24209;ExAC.Info.AN=125208;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=18357;ExAC.Info.AC_Hom=2477;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2965-52G>A;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7" target="_blank">MROH7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2965-52G>A;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7" target="_blank">MROH7</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2965G>A;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7" target="_blank">MROH7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2965G>A;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7" target="_blank">MROH7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2965-52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.2965-52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55165942">View</a>	GT:AD:DP:GQ:PL:TP	1|0:45,35:80:99:908,0,1374:127	0|0:92,0:92:99:0,277,3389:127	1|0:36,39:75:99:1166,0,1081:127
1	55167773	.	T	A	10551.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs646356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=646356" target="_blank">rs646356</a>;ExAC.Info.AC=108976;ExAC.Info.AN=125210;ExAC.Info.AF=0.870;ExAC.Info.AC_Het=13512;ExAC.Info.AC_Hom=46774;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3296T>A;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3296T>A;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3296T>A;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gAc;snpeff.Amino_Acid_Change=p.Val1099Asp/c.3296T>A;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.3296T>A_p.Val1099Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.3296T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55167773">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1542,147,0:116	1|1:0,39:39:99:1356,117,0:116	1|1:0,42:42:99:1423,126,0:116
1	55174819	.	C	T	1386.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12028701;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12028701" target="_blank">rs12028701</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3730+70C>T;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3730+70C>T;snpeff.Amino_Acid_length=1323;snpeff.Gene_Name=MROH7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421030;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421030;SAVANT_GENE=HEATR8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR8" target="_blank">HEATR8</a>;SAVANT_INFO=+/68.5kb/24/4.3kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3730+70C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR8+c.3730+70C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55174819">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,2068:120	0|0:40,0:40:99:0,120,1532:120	0|1:29,24:53:99:712,0,884:120
1	55182300	.	T	A	7789.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1147990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1147990" target="_blank">rs1147990</a>;ExAC.Info.AC=75776;ExAC.Info.AN=126700;ExAC.Info.AF=0.598;ExAC.Info.AC_Het=28114;ExAC.Info.AC_Hom=23782;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3846T>A;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcg/Acg;snpeff.Amino_Acid_Change=p.Ser47Thr/c.139T>A;snpeff.Amino_Acid_length=387;snpeff.Gene_Name=TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371281;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371281;SAVANT_GENE=TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC4" target="_blank">TTC4</a>;SAVANT_INFO=+/26.8kb/10/2.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.139T>A_p.Ser47Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC4+c.139T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55182300">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,28:47:99:721,0,478:127	0|1:28,32:60:99:898,0,776:127	1|1:0,57:57:99:1983,171,0:127
1	55197149	.	T	C	5110.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=480;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3815226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3815226" target="_blank">rs3815226</a>;ExAC.Info.AC=30674;ExAC.Info.AN=126680;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=21220;ExAC.Info.AC_Hom=4640;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*384-10T>C;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.682-10T>C;snpeff.Amino_Acid_length=387;snpeff.Gene_Name=TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371281;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371281;SAVANT_GENE=TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC4" target="_blank">TTC4</a>;SAVANT_INFO=+/26.8kb/10/2.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.682-10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC4+c.682-10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55197149">View</a>	GT:AD:DP:GQ:PL:TP	0|0:147,0:147:99:0,441,5151:127	0|0:181,0:181:99:0,544,6014:127	0|1:65,87:152:99:2574,0,1767:127
1	55199420	.	ATTTTTTTTTT	AT	1428.99	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=34;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*680+39_*680+47delTTTTTTTTT;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.978+39_978+47delTTTTTTTTT;snpeff.Amino_Acid_length=387;snpeff.Gene_Name=TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371281;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371281;SAVANT_GENE=TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC4" target="_blank">TTC4</a>;SAVANT_INFO=+/26.8kb/10/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.978+55_978+63del9;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC4+c.978+55_978+63del9+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55199420">View</a>	GT:AD:DP:GQ:PL	0/1:1,3:5:23:87,0,62	./0:9,4:19:82:272,82,545	0/1:2,7:10:35:244,0,35
1	55199420	.	ATTTTTTTTTT	A	1428.99	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=34;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*680+38_*680+47delTTTTTTTTTT;snpeff.Gene_Name=MROH7-TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414150;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.978+38_978+47delTTTTTTTTTT;snpeff.Amino_Acid_length=387;snpeff.Gene_Name=TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH7-TTC4" target="_blank">MROH7-TTC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371281;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371281;SAVANT_GENE=TTC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC4" target="_blank">TTC4</a>;SAVANT_INFO=+/26.8kb/10/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.978+54_978+63del10;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC4+c.978+54_978+63del10+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55199420">View</a>	GT:AD:DP:GQ:PL	./0:1,1:5:23:87,23,136	0/1:9,6:19:82:272,0,572	./0:2,1:10:35:244,109,222
1	55224131	.	T	C	12064.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2270004;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270004" target="_blank">rs2270004</a>;ExAC.Info.AC=20442;ExAC.Info.AN=126702;ExAC.Info.AF=0.161;ExAC.Info.AC_Het=16832;ExAC.Info.AC_Hom=1790;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn235Ser/c.704A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=PARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARS2" target="_blank">PARS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371279;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371279;SAVANT_GENE=PARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARS2" target="_blank">PARS2</a>;SAVANT_INFO=-/7.6kb/2/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.704A>G_p.Asn235Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARS2+c.704A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55224131">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,65:133:99:1853,0,1801:127	0|0:138,3:141:99:0,333,4708:127	1|1:0,96:96:99:3546,289,0:127
1	55224751	.	C	A	12269.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11577368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11577368" target="_blank">rs11577368</a>;ExAC.Info.AC=19475;ExAC.Info.AN=126694;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=16027;ExAC.Info.AC_Hom=1649;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.84C>A;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=PARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARS2" target="_blank">PARS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371279;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agG/agT;snpeff.Amino_Acid_Change=p.Arg28Ser/c.84G>T;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=PARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARS2" target="_blank">PARS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371279;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371279;SAVANT_GENE=PARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARS2" target="_blank">PARS2</a>;SAVANT_INFO=-/7.6kb/2/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.84G>T_p.Arg28Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARS2+c.84G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55224751">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,55:104:99:1578,0,1549:127	0|0:118,0:118:99:0,355,4246:127	1|1:0,102:102:99:3612,306,0:127
1	55251689	.	T	C	11399.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs586462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=586462" target="_blank">rs586462</a>;ExAC.Info.AC=126613;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=90;ExAC.Info.AC_Hom=63212;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu329Glu/c.987A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371276;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371276;SAVANT_GENE=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;SAVANT_INFO=-/21.6kb/7/3.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.987A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC22+c.987A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55251689">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1587,120,0:78	1|1:0,57:57:99:2170,171,0:78	1|1:0,26:26:78:1046,78,0:78
1	55253346	.	G	A	2738.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2269999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2269999" target="_blank">rs2269999</a>;ExAC.Info.AC=31502;ExAC.Info.AN=124628;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=16792;ExAC.Info.AC_Hom=3593;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.739+38C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371276;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371276;SAVANT_GENE=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;SAVANT_INFO=-/21.6kb/7/3.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.739+38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC22+c.739+38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55253346">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,9:20:99:264,0,383:95	0|0:40,0:40:99:0,120,1361:95	1|1:0,32:32:96:1042,96,0:95
1	55253575	.	T	C	7878.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs665118;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=665118" target="_blank">rs665118</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.624-76A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371276;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.624T>C;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371276;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.624T>C;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371276;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371276;SAVANT_GENE=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;SAVANT_INFO=-/21.6kb/7/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.624-76A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC22+c.624-76A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55253575">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:929,78,0:77	1|1:0,26:26:78:926,78,0:77	1|1:0,38:38:99:1573,114,0:77
1	55266600	.	C	T	1968.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72671847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72671847" target="_blank">rs72671847</a>;ExAC.Info.AC=2347;ExAC.Info.AN=125800;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2051;ExAC.Info.AC_Hom=68;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.237C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371276;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu79Leu/c.237G>A;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371276;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371276;SAVANT_GENE=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;SAVANT_INFO=-/21.6kb/7/3.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.237G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC22+c.237G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55266600">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2270:127	0|1:44,38:82:99:1003,0,1360:127	0|0:50,0:50:99:0,150,1887:127
1	55266797	.	G	C	2224.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs671108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=671108" target="_blank">rs671108</a>;ExAC.Info.AC=24276;ExAC.Info.AN=126012;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=18410;ExAC.Info.AC_Hom=2593;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Gtc;snpeff.Amino_Acid_Change=p.Leu14Val/c.40C>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371276;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371276;SAVANT_GENE=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;SAVANT_INFO=-/21.6kb/7/3.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.40C>G_p.Leu14Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC22+c.40C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55266797">View</a>	GT:AD:DP:GQ:PL:TP	0|0:116,0:116:99:0,349,4106:127	0|0:100,0:100:99:0,300,3542:127	0|1:50,41:91:99:1131,0,1507:127
1	55266845	.	C	T	11704.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1147984;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1147984" target="_blank">rs1147984</a>;ExAC.Info.AC=69696;ExAC.Info.AN=125230;ExAC.Info.AF=0.557;ExAC.Info.AC_Het=27816;ExAC.Info.AC_Hom=19430;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=9;snpeff.Amino_Acid_Change=c.-9G>A;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371276;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371276;SAVANT_GENE=TTC22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC22" target="_blank">TTC22</a>;SAVANT_INFO=-/21.6kb/7/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-9G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC22+c.-9G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55266845">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,55:56:99:1913,129,0:127	1|0:22,35:57:99:1032,0,706:127	1|0:19,25:44:99:807,0,541:127
1	55273580	.	G	T	16623.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9782980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9782980" target="_blank">rs9782980</a>;ExAC.Info.AC=70664;ExAC.Info.AN=126652;ExAC.Info.AF=0.558;ExAC.Info.AC_Het=29367;ExAC.Info.AC_Hom=20397;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Tgc;snpeff.Amino_Acid_Change=p.Gly126Cys/c.376G>T;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=C1orf177;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf177" target="_blank">C1orf177</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371273;SAVANT_GENE=C1orf177;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf177" target="_blank">C1orf177</a>;SAVANT_INFO=+/36.2kb/10/1.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.376G>T_p.Gly126Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf177+c.376G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55273580">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2738,237,0:127	1|0:42,57:99:99:1634,0,1069:127	1|0:32,51:83:99:1469,0,842:127
1	55277514	.	C	T	1484.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72671882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72671882" target="_blank">rs72671882</a>;ExAC.Info.AC=2984;ExAC.Info.AN=126704;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=2746;ExAC.Info.AC_Hom=117;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr176Tyr/c.528C>T;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=C1orf177;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf177" target="_blank">C1orf177</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371273;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371273;SAVANT_GENE=C1orf177;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf177" target="_blank">C1orf177</a>;SAVANT_INFO=+/36.2kb/10/1.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.528C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf177+c.528C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55277514">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,1063:83	0|1:26,26:52:99:761,0,832:83	0|0:40,0:40:99:0,120,1514:83
1	55277599	.	T	C	20815.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs600499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=600499" target="_blank">rs600499</a>;ExAC.Info.AC=126696;ExAC.Info.AN=126702;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=63326;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Cat;snpeff.Amino_Acid_Change=p.Tyr205His/c.613T>C;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=C1orf177;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf177" target="_blank">C1orf177</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371273;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371273;SAVANT_GENE=C1orf177;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf177" target="_blank">C1orf177</a>;SAVANT_INFO=+/36.2kb/10/1.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.613T>C_p.Tyr205His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf177+c.613T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55277599">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2237,189,0:127	1|1:0,79:79:99:2848,237,0:127	1|1:0,79:79:99:2772,237,0:127
1	55307501	.	A	G	6878.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs41297871;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41297871" target="_blank">rs41297871</a>;ExAC.Info.AC=18692;ExAC.Info.AN=109276;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=5750;ExAC.Info.AC_Hom=844;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly404Gly/c.1212A>G;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=C1orf177;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf177" target="_blank">C1orf177</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371273;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371273;SAVANT_GENE=C1orf177;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf177" target="_blank">C1orf177</a>;SAVANT_INFO=+/36.2kb/10/1.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1212A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf177+c.1212A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55307501">View</a>	GT:AD:DP:GQ:PL:TP	0|0:161,0:161:99:0,484,5001:127	0|1:88,70:158:99:1839,0,2344:127	0|1:89,61:150:99:1620,0,2447:127
1	55319902	.	A	G	15321.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Desmosterolosis|_602398_(3);dbSNP139.ID=rs718265;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=718265" target="_blank">rs718265</a>;ExAC.Info.AC=84217;ExAC.Info.AN=126680;ExAC.Info.AF=0.665;ExAC.Info.AC_Het=26294;ExAC.Info.AC_Hom=28594;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile342Ile/c.1026T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371269;SAVANT_GENE=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;SAVANT_INFO=-/37.6kb/9/4.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1026T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHCR24+c.1026T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55319902">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:3130,267,0:127	1|0:34,42:76:99:1318,0,874:127	1|0:32,37:69:99:1133,0,915:127
1	55330966	.	T	C	19927.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Desmosterolosis|_602398_(3);dbSNP139.ID=rs611057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=611057" target="_blank">rs611057</a>;ExAC.Info.AC=126163;ExAC.Info.AN=126582;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=362;ExAC.Info.AC_Hom=59928;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1020+10A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1021T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371269;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371269;SAVANT_GENE=DHCR24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHCR24" target="_blank">DHCR24</a>;SAVANT_INFO=-/37.6kb/9/4.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1020+10A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHCR24+c.1020+10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55330966">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3351,271,0:127	1|1:0,84:84:99:3120,253,0:127	1|1:0,77:77:99:2785,231,0:127
1	55446697	.	G	A	6529.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2253465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2253465" target="_blank">rs2253465</a>;ExAC.Info.AC=74567;ExAC.Info.AN=111978;ExAC.Info.AF=0.666;ExAC.Info.AC_Het=6566;ExAC.Info.AC_Hom=9324;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.363-9C>T;snpeff.Gene_Name=RP11-12C17.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-12C172" target="_blank">RP11-12C172</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000436960;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=42;snpeff.Amino_Acid_Change=c.-42G>A;snpeff.Amino_Acid_length=210;snpeff.Gene_Name=TMEM61;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-12C172" target="_blank">RP11-12C172</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371268;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371268;SAVANT_GENE=TMEM61;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM61" target="_blank">TMEM61</a>;SAVANT_INFO=+/11.5kb/3/1.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-42G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM61+c.-42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55446697">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1125,90,0:88	1|1:0,31:31:93:1215,93,0:88	1|0:15,12:27:99:397,0,492:88
1	55457710	.	G	A	13782.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2500326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2500326" target="_blank">rs2500326</a>;ExAC.Info.AC=100415;ExAC.Info.AN=126698;ExAC.Info.AF=0.793;ExAC.Info.AC_Het=20277;ExAC.Info.AC_Hom=39987;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.238C>T;snpeff.Gene_Name=RP11-12C17.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-12C172" target="_blank">RP11-12C172</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000436960;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala189Ala/c.567G>A;snpeff.Amino_Acid_length=210;snpeff.Gene_Name=TMEM61;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-12C172" target="_blank">RP11-12C172</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371268;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371268;SAVANT_GENE=TMEM61;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM61" target="_blank">TMEM61</a>;SAVANT_INFO=+/11.5kb/3/1.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.567G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM61+c.567G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55457710">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1965,159,0:127	1|1:0,60:60:99:2243,180,0:127	1|0:23,35:58:99:1151,0,676:127
1	55464790	.	C	G	10171.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Bartter_syndrome|_type_4a|_602522_(3)|_Sensorineural_deafness_with_mild_renal_dysfunction|_602522_(3);dbSNP139.ID=rs2500341;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2500341" target="_blank">rs2500341</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=70;snpeff.Amino_Acid_Change=c.-70C>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=BSND;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BSND" target="_blank">BSND</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371265;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=BSND;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BSND" target="_blank">BSND</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371265;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371265;SAVANT_GENE=BSND;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BSND" target="_blank">BSND</a>;SAVANT_INFO=+/12.0kb/4/3.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-70C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BSND+c.-70C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55464790">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:829,60,0:60	1|1:2,59:61:99:2269,134,0:60	1|0:18,14:32:99:450,0,585:60
1	55505732	.	A	G	20050.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);ExperienceDB.ASSAY=NGS-03_CT-FH-HHT-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=A_allele_435/8428_(5|16%)_Eur_Am|_690/4304_(16|03%)_Af_Am_alleles|_EVS_data_accessed_through_Alamut_2-5-14;ExperienceDB.Submitter=Kotzer;dbSNP139.ID=rs2495482;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2495482" target="_blank">rs2495482</a>;ExAC.Info.AC=97340;ExAC.Info.AN=106668;ExAC.Info.AF=0.913;ExAC.Info.AC_Het=1653;ExAC.Info.AC_Hom=12758;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.207+15A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.207+15A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.207+15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55505732">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,55:115:99:1648,0,1534:127	1|1:0,137:137:99:5060,412,0:127	0|1:65,63:128:99:2097,0,1780:127
1	55516781	.	G	T	13057.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);dbSNP139.ID=rs599037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=599037" target="_blank">rs599037</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.524-1170G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.524-1170G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.524-1170G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55516781">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1585,150,0:110	1|1:0,54:54:99:1778,162,0:110	1|1:0,37:37:99:1268,111,0:110
1	55517883	.	C	G	1382.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);dbSNP139.ID=rs624612;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=624612" target="_blank">rs624612</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.524-68C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.524-68C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.524-68C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55517883">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1850:127	0|0:56,0:56:99:0,168,2130:127	0|1:22,23:45:99:710,0,760:127
1	55518316	.	C	T	29103.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);ExperienceDB.ASSAY=NGS-03_CT-FH-HHT-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=T_allele_3824/8600_(44|47%)_Eur_Am|_2135/4406_(48|46%)_Af_Am_alleles|_EVS_data_accessed_through_Alamut_2-26-14;ExperienceDB.Submitter=Kotzer;dbSNP139.ID=rs2483205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2483205" target="_blank">rs2483205</a>;ExAC.Info.AC=53679;ExAC.Info.AN=126474;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=29724;ExAC.Info.AC_Hom=11610;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000030351;Clinvar.PhenotypeIDs=MedGen:C0020445|OMIM:143890|OMIM:144400|SNOMED_CT:397915002|SNOMED_CT:398036000;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.658-7C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.658-7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.658-7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55518316">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030351" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4166,399,0:127	1|1:0,162:162:99:5477,487,0:127	1|0:71,67:138:99:1802,0,1845:127
1	55518467	.	A	G	8183.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);ExperienceDB.ASSAY=NGS-03_CT-FH-HHT-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=G_allele_3456/8600_(40|20%)_Eur_Am/nA_allele_1306/4406_(29|64%)_af_Am_alleles/nEVS_data_accessed_through_Alamut_2-5-14;ExperienceDB.Submitter=Kotzer;dbSNP139.ID=rs2495477;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2495477" target="_blank">rs2495477</a>;ExAC.Info.AC=54024;ExAC.Info.AN=126246;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=28745;ExAC.Info.AC_Hom=12044;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.799+3A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.799+3A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.799+3A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55518467">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1227,111,0:110	1|1:0,43:43:99:1652,129,0:110	1|0:18,16:34:99:426,0,551:110
1	55523033	.	A	G	15014.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);ExperienceDB.ASSAY=NGS-03_CT-FH-HHT-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=A_allele_2/8600_(0|02%)_Eur_Am|_262/4406_(5|95%)_Af_Am_alleles|_EVS_data_accessed_through_Alamut_2-5-14;ExperienceDB.Submitter=Kotzer;dbSNP139.ID=rs509504;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=509504" target="_blank">rs509504</a>;ExAC.Info.AC=126012;ExAC.Info.AN=126694;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=650;ExAC.Info.AC_Hom=62518;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln342Gln/c.1026A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1026A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.1026A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55523033">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2230,203,0:120	1|1:0,72:72:99:2536,216,0:120	1|1:0,40:40:99:1449,120,0:120
1	55523984	.	C	T	13345.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);dbSNP139.ID=rs584626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=584626" target="_blank">rs584626</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1354+102C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1355C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1355C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1355C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1355C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1355C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1354+102C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.1354+102C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55523984">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1433,123,0:125	1|1:0,78:78:99:2672,234,0:125	1|1:0,42:42:99:1580,126,0:125
1	55524116	.	C	T	17855.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);dbSNP139.ID=rs585131;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=585131" target="_blank">rs585131</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1355-56C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1355C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1355C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1355C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1355C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1355C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1355-56C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.1355-56C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55524116">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2682,261,0:127	1|1:0,93:93:99:3190,279,0:127	1|1:0,57:57:99:1982,171,0:127
1	55524197	.	A	G	20263.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);ExperienceDB.ASSAY=NGS-03_CT-FH-HHT-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=A_allele_1432/8600_(16|65%)_Eur_Am|_938/4406_(21|29%)_Af_Am_alleles|_EVS_data_accessed_through_Alamut_2-5-14;ExperienceDB.Submitter=Kotzer;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs540796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=540796" target="_blank">rs540796</a>;ExAC.Info.AC=108249;ExAC.Info.AN=126700;ExAC.Info.AF=0.854;ExAC.Info.AC_Het=15379;ExAC.Info.AC_Hom=46396;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val460Val/c.1380A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1380A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.1380A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55524197">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:3065,235,0:127	1|1:0,82:82:99:3320,250,0:127	1|1:0,51:51:99:2150,156,0:127
1	55524237	.	G	A	15800.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);ExperienceDB.ASSAY=NGS-03_CT-FH-HHT-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=G_allele_1432/8600_(16|65%)_Eur_Am|_938/4406_(21|29%)_Af_Am_alleles|_EVS_data_accessed_through_Alamut_2-5-14;ExperienceDB.Submitter=Kotzer;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs562556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=562556" target="_blank">rs562556</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=High_LDL_cholesterol|_association_with;hgmd_2014.2.OMIM_ID=607786;hgmd_2014.2.PubMed=14727156;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=14727156" target="_blank">14727156</a>;ExAC.Info.AC=108227;ExAC.Info.AN=126694;ExAC.Info.AF=0.854;ExAC.Info.AC_Het=15359;ExAC.Info.AC_Hom=46327;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val474Ile/c.1420G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1420G>A_p.Val474Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.1420G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55524237">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2262,171,0:127	1|1:0,56:56:99:2452,178,0:127	1|1:0,42:42:99:1818,132,0:127
1	55525400	.	G	A	8339.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);dbSNP139.ID=rs483462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=483462" target="_blank">rs483462</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1681+64G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1681+64G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.1681+64G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55525400">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1237,117,0:116	1|1:0,42:42:99:1497,126,0:116	1|0:21,22:43:99:616,0,548:116
1	55529187	.	G	A	17113.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypercholesterolemia|_familial|_3|_603776_(3)|_{Low_density_lipoprotein_cholesterol_level_QTL_1}|_603776_(3);ExperienceDB.ASSAY=NGS-03_CT-FH-HHT-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=G_allele_304/8600_(3|53%)_Eur_Am|_1134/4406_(25|74%)_Af_Am_alleles|_EVS_data_accessed_through_Alamut_2-5-14;ExperienceDB.Submitter=Kotzer;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs505151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=505151" target="_blank">rs505151</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Atherosclerosis|_severity|_association_with;hgmd_2014.2.OMIM_ID=607786;hgmd_2014.2.PubMed=15893176;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15893176" target="_blank">15893176</a>;ExAC.Info.AC=119409;ExAC.Info.AN=126650;ExAC.Info.AF=0.943;ExAC.Info.AC_Het=6272;ExAC.Info.AC_Hom=56193;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000030349;Clinvar.PhenotypeIDs=MedGen:C0020445|OMIM:143890|OMIM:144400|SNOMED_CT:397915002|SNOMED_CT:398036000;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2009G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2009G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2009G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2009G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2009G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2009G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2009G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gAg;snpeff.Amino_Acid_Change=p.Gly670Glu/c.2009G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302118;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302118;SAVANT_GENE=PCSK9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCSK9" target="_blank">PCSK9</a>;SAVANT_INFO=+/25.3kb/12/3.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2009G>A_p.Gly670Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCSK9+c.2009G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55529187">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030349" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2659,243,0:127	1|1:0,69:69:99:2405,207,0:127	1|0:43,31:74:99:896,0,1248:127
1	55538552	.	T	G	15449.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=425;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs10493176;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10493176" target="_blank">rs10493176</a>;ExAC.Info.AC=11277;ExAC.Info.AN=124532;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=8173;ExAC.Info.AC_Hom=572;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7527-18A>C;snpeff.Amino_Acid_length=2620;snpeff.Gene_Name=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294383;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294383;SAVANT_GENE=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;SAVANT_INFO=-/149.0kb/68/10.8kb;SAVANT_LOC=In64/65;SAVANT_HGVS=c.7527-18A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP24+c.7527-18A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55538552">View</a>	GT:AD:DP:GQ:PL:TP	0|1:89,58:147:99:1501,0,2419:127	1|1:0,139:139:99:4932,417,0:127	0|0:139,0:139:99:0,418,4714:127
1	55541174	.	A	G	9087.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs487230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=487230" target="_blank">rs487230</a>;ExAC.Info.AC=93284;ExAC.Info.AN=124456;ExAC.Info.AF=0.750;ExAC.Info.AC_Het=18257;ExAC.Info.AC_Hom=31688;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTa/gCa;snpeff.Amino_Acid_Change=p.Val2468Ala/c.7403T>C;snpeff.Amino_Acid_length=2620;snpeff.Gene_Name=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294383;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294383;SAVANT_GENE=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;SAVANT_INFO=-/149.0kb/68/10.8kb;SAVANT_LOC=Ex63;SAVANT_HGVS=c.7403T>C_p.Val2468Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP24+c.7403T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55541174">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1583,126,0:125	1|1:0,47:47:99:1740,141,0:125	1|0:31,24:55:99:625,0,868:125
1	55543079	.	T	C	3064.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=402;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs56235208;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56235208" target="_blank">rs56235208</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7315-106A>G;snpeff.Amino_Acid_length=2620;snpeff.Gene_Name=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294383;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294383;SAVANT_GENE=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;SAVANT_INFO=-/149.0kb/68/10.8kb;SAVANT_LOC=In61/62;SAVANT_HGVS=c.7315-106A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP24+c.7315-106A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55543079">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,406,4502:127	0|0:135,0:135:99:0,406,4967:127	0|1:74,58:132:99:1551,0,2170:127
1	55567410	.	A	G	18765.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs615652;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=615652" target="_blank">rs615652</a>;ExAC.Info.AC=107668;ExAC.Info.AN=123894;ExAC.Info.AF=0.869;ExAC.Info.AC_Het=8713;ExAC.Info.AC_Hom=32412;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5026-34T>C;snpeff.Amino_Acid_length=2620;snpeff.Gene_Name=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294383;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294383;SAVANT_GENE=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;SAVANT_INFO=-/149.0kb/68/10.8kb;SAVANT_LOC=In42/43;SAVANT_HGVS=c.5026-34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP24+c.5026-34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55567410">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2615,202,0:127	1|1:0,81:81:99:3118,244,0:127	1|1:0,69:69:99:2544,207,0:127
1	55572867	.	G	A	12354.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs594226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=594226" target="_blank">rs594226</a>;ExAC.Info.AC=93968;ExAC.Info.AN=124362;ExAC.Info.AF=0.756;ExAC.Info.AC_Het=19064;ExAC.Info.AC_Hom=34553;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4762+45C>T;snpeff.Amino_Acid_length=2620;snpeff.Gene_Name=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294383;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294383;SAVANT_GENE=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;SAVANT_INFO=-/149.0kb/68/10.8kb;SAVANT_LOC=In40/41;SAVANT_HGVS=c.4762+45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP24+c.4762+45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55572867">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2155,183,0:127	1|1:0,71:71:99:2574,213,0:127	1|0:37,25:62:99:736,0,980:127
1	55638075	.	G	A	32215.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1165222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1165222" target="_blank">rs1165222</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Parkinson_disease|_risk|_association_with;hgmd_2014.2.OMIM_ID=610569;hgmd_2014.2.PubMed=16917932;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16917932" target="_blank">16917932</a>;ExAC.Info.AC=109268;ExAC.Info.AN=124764;ExAC.Info.AF=0.876;ExAC.Info.AC_Het=13245;ExAC.Info.AC_Hom=47711;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aTt;snpeff.Amino_Acid_Change=p.Thr226Ile/c.677C>T;snpeff.Amino_Acid_length=2620;snpeff.Gene_Name=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294383;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294383;SAVANT_GENE=USP24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP24" target="_blank">USP24</a>;SAVANT_INFO=-/149.0kb/68/10.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.677C>T_p.Thr226Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP24+c.677C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55638075">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:4134,349,0:127	1|1:0,144:144:99:5126,432,0:127	1|1:0,125:125:99:4487,376,0:127
1	55691384	.	T	C	852.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17111728;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17111728" target="_blank">rs17111728</a>;ExAC.Info.AC=113;ExAC.Info.AN=3876;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.71T>C;snpeff.Gene_Name=MIR4422;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4422" target="_blank">MIR4422</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000581938;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.72+7779T>C;snpeff.Gene_Name=RP11-101C11.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4422" target="_blank">MIR4422</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451250;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4422" target="_blank">MIR4422</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIR4422+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55691384">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1171:99	0|0:55,0:55:99:0,165,1911:99	0|1:17,14:31:99:445,0,548:99
1	55691431	.	G	A	770.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72662534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72662534" target="_blank">rs72662534</a>;ExAC.Info.AC=33;ExAC.Info.AN=4240;ExAC.Info.AF=7.783e-03;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.72+7826G>A;snpeff.Gene_Name=RP11-101C11.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-101C111" target="_blank">RP11-101C111</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451250;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-101C111" target="_blank">RP11-101C111</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-101C111+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:55691431">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1074:92	0|0:50,0:50:99:0,150,1744:92	0|1:20,17:37:99:404,0,671:92
1	57002613	.	G	A	4861.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11583161;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11583161" target="_blank">rs11583161</a>;ExAC.Info.AC=7530;ExAC.Info.AN=126692;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=6284;ExAC.Info.AC_Hom=618;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.297+14C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=PPAP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAP2B" target="_blank">PPAP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371250;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=PPAP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAP2B" target="_blank">PPAP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371250;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=PPAP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAP2B" target="_blank">PPAP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371250;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371250;SAVANT_GENE=PPAP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAP2B" target="_blank">PPAP2B</a>;SAVANT_INFO=-/84.8kb/6/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.297+14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPAP2B+c.297+14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57002613">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,17:45:99:464,0,905:127	0|0:72,0:72:99:0,216,2490:127	1|0:18,36:54:99:1162,0,454:127
1	57002627	.	C	T	5132.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1136164;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1136164" target="_blank">rs1136164</a>;ExAC.Info.AC=5334;ExAC.Info.AN=126696;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=4644;ExAC.Info.AC_Hom=343;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=PPAP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAP2B" target="_blank">PPAP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371250;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=PPAP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAP2B" target="_blank">PPAP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371250;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala99Ala/c.297G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=PPAP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAP2B" target="_blank">PPAP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371250;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=PPAP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAP2B" target="_blank">PPAP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371250;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371250;SAVANT_GENE=PPAP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAP2B" target="_blank">PPAP2B</a>;SAVANT_INFO=-/84.8kb/6/3.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.297G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPAP2B+c.297G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57002627">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,18:47:99:529,0,897:127	0|0:73,0:73:99:0,219,2437:127	1|0:17,36:53:99:1177,0,387:127
1	57111169	.	C	G	5779.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61772962;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61772962" target="_blank">rs61772962</a>;ExAC.Info.AC=36754;ExAC.Info.AN=113864;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=8279;ExAC.Info.AC_Hom=2868;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.94+15C>G;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.95C>G;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.95C>G;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.95C>G;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.95C>G;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.95C>G;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.95C>G;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.95C>G;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.95C>G;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.95C>G;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371244;SAVANT_GENE=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;SAVANT_INFO=+/70.0kb/9/9.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.94+15C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKAA2+c.94+15C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57111169">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,28:55:99:845,0,799:127	0/1:25,21:46:99:656,0,757:127	0/1:22,24:46:99:714,0,635:127
1	57158051	.	G	A	7354.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17848595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17848595" target="_blank">rs17848595</a>;ExAC.Info.AC=12525;ExAC.Info.AN=126704;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=10483;ExAC.Info.AC_Hom=1021;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351G>A;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351G>A;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351G>A;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351G>A;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351G>A;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351G>A;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351G>A;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351G>A;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg117Arg/c.351G>A;snpeff.Amino_Acid_length=552;snpeff.Gene_Name=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371244;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371244;SAVANT_GENE=PRKAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAA2" target="_blank">PRKAA2</a>;SAVANT_INFO=+/70.0kb/9/9.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.351G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKAA2+c.351G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57158051">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,44:88:99:1147,0,1277:127	0|0:102,0:102:99:0,306,3724:127	1|0:57,53:110:99:1545,0,1658:127
1	57185818	.	A	G	10273.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs857141;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=857141" target="_blank">rs857141</a>;ExAC.Info.AC=94529;ExAC.Info.AN=126348;ExAC.Info.AF=0.748;ExAC.Info.AC_Het=21802;ExAC.Info.AC_Hom=35306;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2131+28T>C;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343433;SAVANT_GENE=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;SAVANT_INFO=-/100.6kb/20/3.1kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2131+28T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf168+c.2131+28T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57185818">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2128,159,0:127	1|0:32,41:73:99:1353,0,927:127	1|0:34,30:64:99:862,0,925:127
1	57209695	.	T	C	4797.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1156845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1156845" target="_blank">rs1156845</a>;ExAC.Info.AC=17975;ExAC.Info.AN=126648;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=14976;ExAC.Info.AC_Hom=1472;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1543+4A>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343433;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1544A>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343433;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343433;SAVANT_GENE=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;SAVANT_INFO=-/100.6kb/20/3.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1543+4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf168+c.1543+4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57209695">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,27:64:99:800,0,1099:127	1|0:33,40:73:99:1172,0,946:127	0|0:43,0:43:99:0,129,1553:127
1	57219539	.	C	A	6073.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72668350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72668350" target="_blank">rs72668350</a>;ExAC.Info.AC=1632;ExAC.Info.AN=126644;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1606;ExAC.Info.AC_Hom=12;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaG/aaT;snpeff.Amino_Acid_Change=p.Lys400Asn/c.1200G>T;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343433;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343433;SAVANT_GENE=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;SAVANT_INFO=-/100.6kb/20/3.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1200G>T_p.Lys400Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf168+c.1200G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57219539">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,46:94:99:1314,0,1632:127	0|0:113,0:113:99:0,340,4281:127	1|0:47,39:86:99:1100,0,1602:127
1	57221553	.	G	T	7621.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1774808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1774808" target="_blank">rs1774808</a>;ExAC.Info.AC=92318;ExAC.Info.AN=126638;ExAC.Info.AF=0.729;ExAC.Info.AC_Het=23531;ExAC.Info.AC_Hom=34225;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1130+16C>A;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343433;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343433;SAVANT_GENE=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;SAVANT_INFO=-/100.6kb/20/3.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1130+16C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf168+c.1130+16C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57221553">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,32:62:99:1238,0,1685:127	1|0:43,46:89:99:1820,0,2403:127	0|0:64,0:64:99:0,199,4036:127
1	57221554	.	A	G	7621.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1738401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1738401" target="_blank">rs1738401</a>;ExAC.Info.AC=92317;ExAC.Info.AN=126638;ExAC.Info.AF=0.729;ExAC.Info.AC_Het=23530;ExAC.Info.AC_Hom=34232;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1130+15T>C;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343433;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343433;SAVANT_GENE=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;SAVANT_INFO=-/100.6kb/20/3.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1130+15T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf168+c.1130+15T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57221554">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,32:63:99:1238,0,1685:127	1|0:42,47:89:99:1820,0,2403:127	0|0:65,0:65:99:0,199,4036:127
1	57224460	.	G	C	7660.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs857103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=857103" target="_blank">rs857103</a>;ExAC.Info.AC=86942;ExAC.Info.AN=125308;ExAC.Info.AF=0.694;ExAC.Info.AC_Het=18947;ExAC.Info.AC_Hom=25428;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1064-37C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343433;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343433;SAVANT_GENE=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;SAVANT_INFO=-/100.6kb/20/3.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1064-37C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf168+c.1064-37C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57224460">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,38:94:99:1131,0,1727:127	1|0:72,69:141:99:2010,0,2186:127	0|0:121,1:122:99:0,326,4554:127
1	57257817	.	T	C	5262.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2298130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298130" target="_blank">rs2298130</a>;ExAC.Info.AC=21665;ExAC.Info.AN=126692;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=17233;ExAC.Info.AC_Hom=2173;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys223Lys/c.669A>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343433;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343433;SAVANT_GENE=C1orf168;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf168" target="_blank">C1orf168</a>;SAVANT_INFO=-/100.6kb/20/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.669A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf168+c.669A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57257817">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,27:50:99:777,0,677:127	1|0:38,38:76:99:1102,0,1132:127	0|0:70,0:70:99:0,210,2348:127
1	57340727	.	C	A	14680.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=636;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=C8_deficiency|_type_I|_613790_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs652785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=652785" target="_blank">rs652785</a>;ExAC.Info.AC=46618;ExAC.Info.AN=126678;ExAC.Info.AF=0.368;ExAC.Info.AC_Het=28151;ExAC.Info.AC_Hom=9079;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Caa/Aaa;snpeff.Amino_Acid_Change=p.Gln93Lys/c.277C>A;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=C8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8A" target="_blank">C8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361249;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361249;SAVANT_GENE=C8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8A" target="_blank">C8A</a>;SAVANT_INFO=+/63.4kb/11/2.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.277C>A_p.Gln93Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C8A+c.277C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57340727">View</a>	GT:AD:DP:GQ:PL:TP	0|1:80,98:178:99:2498,0,2191:127	1|0:119,118:237:99:3231,0,3538:127	0|0:221,0:221:99:0,664,7627:127
1	57378413	.	T	C	12383.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=C8_deficiency|_type_I|_613790_(3);dbSNP139.ID=rs623077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=623077" target="_blank">rs623077</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1603+115T>C;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=C8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8A" target="_blank">C8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361249;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361249;SAVANT_GENE=C8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8A" target="_blank">C8A</a>;SAVANT_INFO=+/63.4kb/11/2.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1603+115T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C8A+c.1603+115T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57378413">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1561,132,0:127	1|1:0,59:59:99:2078,177,0:127	1|1:0,47:47:99:1760,141,0:127
1	57383358	.	C	T	4040.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=544;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=C8_deficiency|_type_I|_613790_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17300936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17300936" target="_blank">rs17300936</a>;ExAC.Info.AC=12175;ExAC.Info.AN=126704;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=10753;ExAC.Info.AC_Hom=705;snpeff.Effect=sequence_feature[domain:TSP_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1724C>T;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=C8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8A" target="_blank">C8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cTa;snpeff.Amino_Acid_Change=p.Pro575Leu/c.1724C>T;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=C8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8A" target="_blank">C8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361249;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361249;SAVANT_GENE=C8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8A" target="_blank">C8A</a>;SAVANT_INFO=+/63.4kb/11/2.4kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1724C>T_p.Pro575Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C8A+c.1724C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57383358">View</a>	GT:AD:DP:GQ:PL:TP	0|0:182,0:182:99:0,547,6350:127	0|0:224,0:224:99:0,672,8094:127	0|1:69,69:138:99:2039,0,2145:127
1	57395251	.	T	C	44714.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=564;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=C8_deficiency|_type_II|_613789_(3);dbSNP139.ID=rs605648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=605648" target="_blank">rs605648</a>;ExAC.Info.AC=111737;ExAC.Info.AN=126690;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=12779;ExAC.Info.AC_Hom=49352;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1622-20A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8B" target="_blank">C8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371237;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371237;SAVANT_GENE=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8B" target="_blank">C8B</a>;SAVANT_INFO=-/36.8kb/12/2.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1622-20A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C8B+c.1622-20A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57395251">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,191:191:99:6620,573,0:127	1|1:0,220:220:99:7680,661,0:127	1|1:0,153:153:99:5557,459,0:127
1	57395294	.	G	A	8856.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=C8_deficiency|_type_II|_613789_(3);dbSNP139.ID=rs41285940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41285940" target="_blank">rs41285940</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1622-63C>T;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8B" target="_blank">C8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371237;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371237;SAVANT_GENE=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8B" target="_blank">C8B</a>;SAVANT_INFO=-/36.8kb/12/2.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1622-63C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C8B+c.1622-63C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57395294">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,65:152:99:1696,0,2530:127	0|0:177,1:178:99:0,498,6184:127	1|0:54,64:118:99:1836,0,1468:127
1	57409329	.	A	G	9830.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=C8_deficiency|_type_II|_613789_(3);dbSNP139.ID=rs72670361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72670361" target="_blank">rs72670361</a>;ExAC.Info.AC=3916;ExAC.Info.AN=126704;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3734;ExAC.Info.AC_Hom=91;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1234+40T>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8B" target="_blank">C8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371237;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371237;SAVANT_GENE=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8B" target="_blank">C8B</a>;SAVANT_INFO=-/36.8kb/12/2.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1234+40T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C8B+c.1234+40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57409329">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,66:123:99:2090,0,1710:127	0|0:158,0:158:99:0,475,5710:127	1|0:73,59:132:99:1983,0,2291:127
1	57422484	.	C	T	64926.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=847;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=C8_deficiency|_type_II|_613789_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1013579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1013579" target="_blank">rs1013579</a>;ExAC.Info.AC=123834;ExAC.Info.AN=126704;ExAC.Info.AF=0.977;ExAC.Info.AC_Het=2762;ExAC.Info.AC_Hom=60534;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly117Arg/c.349G>A;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8B" target="_blank">C8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371237;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371237;SAVANT_GENE=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8B" target="_blank">C8B</a>;SAVANT_INFO=-/36.8kb/12/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.349G>A_p.Gly117Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C8B+c.349G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57422484">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,276:276:99:9434,829,0:127	1|1:0,344:344:99:11912,1033,0:127	1|1:0,227:227:99:7952,682,0:127
1	57425888	.	AG	A	14002.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=C8_deficiency|_type_II|_613789_(3);dbSNP139.ID=rs139781264;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139781264" target="_blank">rs139781264</a>;ExAC.Info.AC=15866;ExAC.Info.AN=126702;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=13594;ExAC.Info.AC_Hom=1120;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.93-40delC;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8B" target="_blank">C8B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371237;SAVANT_GENE=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8B" target="_blank">C8B</a>;SAVANT_INFO=-/36.8kb/12/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.93-40delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C8B+c.93-40delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57425888">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,62:134:99:1799,0,2149:127	0|0:136,0:136:99:0,409,4832:127	1|1:0,126:126:99:4443,379,0:127
1	57431629	.	A	G	4608.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=C8_deficiency|_type_II|_613789_(3);dbSNP139.ID=rs72670382;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72670382" target="_blank">rs72670382</a>;ExAC.Info.AC=2323;ExAC.Info.AN=126704;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2251;ExAC.Info.AC_Hom=35;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.172+1899A>G;snpeff.Gene_Name=RP5-1103B4.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1103B43" target="_blank">RP5-1103B43</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000417420;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.-8T>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1103B43" target="_blank">RP5-1103B43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1103B43" target="_blank">RP5-1103B43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371237;SAVANT_GENE=C8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C8B" target="_blank">C8B</a>;SAVANT_INFO=-/36.8kb/12/2.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-8T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C8B+c.-8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57431629">View</a>	GT:AD:DP:GQ:PL:TP	0|0:121,0:121:99:0,364,4241:127	0|1:85,73:158:99:2323,0,2686:127	0|0:117,1:118:99:0,320,4158:127
1	57602334	.	G	A	8648.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs564665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=564665" target="_blank">rs564665</a>;ExAC.Info.AC=16287;ExAC.Info.AN=126542;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=13493;ExAC.Info.AC_Hom=1206;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.208-20C>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208G>A;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208G>A;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208G>A;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208G>A;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208G>A;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371236;SAVANT_GENE=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;SAVANT_INFO=-/1255.7kb/17/5.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.208-20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAB1+c.208-20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57602334">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,424,4899:127	0|1:87,80:167:99:2345,0,2591:127	0|1:79,69:148:99:1999,0,2468:127
1	57602383	.	T	C	5850.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs563921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=563921" target="_blank">rs563921</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.208-69A>G;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371231;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371236;SAVANT_GENE=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;SAVANT_INFO=-/1255.7kb/17/5.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.208-69A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAB1+c.208-69A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:57602383">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,237,2610:127	0|1:67,51:118:99:1608,0,1764:127	0|1:53,44:97:99:1337,0,1414:127
1	58939634	.	G	A	5636.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=605;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12407003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12407003" target="_blank">rs12407003</a>;ExAC.Info.AC=3610;ExAC.Info.AN=21922;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=2618;ExAC.Info.AC_Hom=413;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OMA1" target="_blank">OMA1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OMA1" target="_blank">OMA1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OMA1" target="_blank">OMA1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OMA1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:58939634">View</a>	GT:AD:DP:GQ:PL:TP	0|0:187,0:187:99:0,562,6188:127	0|1:100,101:201:99:2837,0,2557:127	0|0:217,0:217:99:0,650,7005:127
1	58971831	.	G	A	7945.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3087585;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3087585" target="_blank">rs3087585</a>;ExAC.Info.AC=31581;ExAC.Info.AN=126702;ExAC.Info.AF=0.249;ExAC.Info.AC_Het=22772;ExAC.Info.AC_Hom=4377;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe422Phe/c.1266C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=OMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371226;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371226;SAVANT_GENE=OMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OMA1" target="_blank">OMA1</a>;SAVANT_INFO=-/66.1kb/9/1.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1266C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OMA1+c.1266C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:58971831">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,58:104:99:1633,0,1277:127	1|0:53,58:111:99:1723,0,1514:127	0|0:95,0:95:99:0,285,3298:127
1	58999712	.	G	A	3338.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34851388;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34851388" target="_blank">rs34851388</a>;ExAC.Info.AC=447;ExAC.Info.AN=126702;ExAC.Info.AF=3.528e-03;ExAC.Info.AC_Het=443;ExAC.Info.AC_Hom=2;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DAB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe308Phe/c.924C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=OMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAB1" target="_blank">DAB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371226;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371226;SAVANT_GENE=OMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OMA1" target="_blank">OMA1</a>;SAVANT_INFO=-/66.1kb/9/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.924C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OMA1+c.924C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:58999712">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,21:58:99:514,0,1029:127	1|0:38,32:70:99:855,0,1276:127	0|0:43,0:43:99:0,129,1620:127
1	59042181	.	G	T	11741.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Corneal_dystrophy|_gelatinous_drop-like|_204870_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs14008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=14008" target="_blank">rs14008</a>;ExAC.Info.AC=11532;ExAC.Info.AN=126558;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=9366;ExAC.Info.AC_Hom=792;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648G>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TACSTD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACSTD2" target="_blank">TACSTD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371225;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaA;snpeff.Amino_Acid_Change=p.Asp216Glu/c.648C>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TACSTD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACSTD2" target="_blank">TACSTD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371225;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371225;SAVANT_GENE=TACSTD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACSTD2" target="_blank">TACSTD2</a>;SAVANT_INFO=-/2.1kb/1/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.648C>A_p.Asp216Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACSTD2+c.648C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59042181">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,62:130:99:1870,0,1960:127	0|0:181,2:183:99:0,501,6354:127	1|0:78,78:156:99:2368,0,2174:127
1	59042388	.	C	G	7114.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Corneal_dystrophy|_gelatinous_drop-like|_204870_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1062964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1062964" target="_blank">rs1062964</a>;ExAC.Info.AC=5271;ExAC.Info.AN=126314;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=4768;ExAC.Info.AC_Hom=125;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.441C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TACSTD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACSTD2" target="_blank">TACSTD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371225;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu147Asp/c.441G>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=TACSTD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACSTD2" target="_blank">TACSTD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371225;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371225;SAVANT_GENE=TACSTD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACSTD2" target="_blank">TACSTD2</a>;SAVANT_INFO=-/2.1kb/1/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.441G>C_p.Glu147Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACSTD2+c.441G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59042388">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,35:85:99:1077,0,1700:127	0|0:116,0:116:99:0,348,4525:127	1|0:47,44:91:99:1413,0,1420:127
1	59127024	.	T	G	8946.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4912364;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4912364" target="_blank">rs4912364</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2270+54A>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000472487;SAVANT_GENE=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;SAVANT_INFO=-/45.4kb/20/7.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2270+54A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYSM1+c.2270+54A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59127024">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,29:66:99:905,0,1080:127	0/1:55,55:110:99:1666,0,1511:127	0/1:39,40:79:99:1285,0,1036:127
1	59127086	.	G	A	1470.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7523134;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7523134" target="_blank">rs7523134</a>;ExAC.Info.AC=34821;ExAC.Info.AN=125064;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=24519;ExAC.Info.AC_Hom=4944;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu754Leu/c.2262C>T;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000472487;SAVANT_GENE=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;SAVANT_INFO=-/45.4kb/20/7.8kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2262C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYSM1+c.2262C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59127086">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,255,2833:127	0|0:91,0:91:99:0,274,3342:127	0|1:36,26:62:99:754,0,1165:127
1	59134586	.	G	C	11050.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=371;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11207284;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11207284" target="_blank">rs11207284</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1716+70C>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MPN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1717G>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MPN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1717G>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MPN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1717G>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MPN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1717G>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MPN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1717G>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000472487;SAVANT_GENE=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;SAVANT_INFO=-/45.4kb/20/7.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1716+70C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYSM1+c.1716+70C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59134586">View</a>	GT:AD:DP:GQ:PL:TP	0/1:54,61:115:99:1840,0,1541:127	0/1:72,52:124:99:1426,0,2072:127	0/1:77,55:132:99:1469,0,2140:127
1	59134607	.	C	CAG	33040.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=309;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs57822474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57822474" target="_blank">rs57822474</a>;ExAC.Info.AC=121123;ExAC.Info.AN=123876;ExAC.Info.AF=0.978;ExAC.Info.AC_Het=1651;ExAC.Info.AC_Hom=40939;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1716+49_1716+48insCT;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MPN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1717_1718insAG;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MPN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1717_1718insAG;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MPN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1717_1718insAG;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MPN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1717_1718insAG;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MPN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1717_1718insAG;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000472487;SAVANT_GENE=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;SAVANT_INFO=-/45.4kb/20/7.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1716+48_1716+49insCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYSM1+c.1716+48_1716+49insCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59134607">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:4284,289,0:127	1|1:0,102:102:99:4632,320,0:127	1|1:0,111:111:99:4936,339,0:127
1	59139223	.	C	G	14459.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=493;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2064370;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2064370" target="_blank">rs2064370</a>;ExAC.Info.AC=74450;ExAC.Info.AN=125164;ExAC.Info.AF=0.595;ExAC.Info.AC_Het=29378;ExAC.Info.AC_Hom=22286;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1572+22G>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000472487;SAVANT_GENE=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;SAVANT_INFO=-/45.4kb/20/7.8kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1572+22G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYSM1+c.1572+22G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59139223">View</a>	GT:AD:DP:GQ:PL:TP	0/1:74,61:135:99:1680,0,2189:127	0/1:115,85:200:99:2398,0,3428:127	0/1:81,77:158:99:2015,0,2415:127
1	59142713	.	T	C	7681.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs579110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=579110" target="_blank">rs579110</a>;ExAC.Info.AC=76758;ExAC.Info.AN=125134;ExAC.Info.AF=0.613;ExAC.Info.AC_Het=29057;ExAC.Info.AC_Hom=23832;snpeff.Effect=sequence_feature[domain:SWIRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SWIRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SWIRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro425Pro/c.1275A>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000472487;SAVANT_GENE=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;SAVANT_INFO=-/45.4kb/20/7.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1275A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYSM1+c.1275A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59142713">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,42:78:99:1188,0,1056:127	0/1:37,59:96:99:1649,0,1038:127	0/1:37,31:68:99:865,0,1065:127
1	59147926	.	T	C	17715.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=483;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12139511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12139511" target="_blank">rs12139511</a>;ExAC.Info.AC=76206;ExAC.Info.AN=125114;ExAC.Info.AF=0.609;ExAC.Info.AC_Het=29189;ExAC.Info.AC_Hom=23467;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr264Ala/c.790A>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000472487;SAVANT_GENE=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;SAVANT_INFO=-/45.4kb/20/7.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.790A>G_p.Thr264Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYSM1+c.790A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59147926">View</a>	GT:AD:DP:GQ:PL:TP	0/1:73,79:152:99:2584,0,2015:127	0/1:83,83:166:99:2573,0,2327:127	0/1:80,85:165:99:2709,0,2251:127
1	59150941	.	G	A	3765.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2206764;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2206764" target="_blank">rs2206764</a>;ExAC.Info.AC=112040;ExAC.Info.AN=125000;ExAC.Info.AF=0.896;ExAC.Info.AC_Het=11021;ExAC.Info.AC_Hom=49195;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.400-18C>T;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SANT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SANT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SANT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000472487;SAVANT_GENE=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;SAVANT_INFO=-/45.4kb/20/7.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.400-18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYSM1+c.400-18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59150941">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,14:33:99:410,0,495:72	0|1:24,22:46:99:557,0,694:72	1|1:0,24:24:72:875,72,0:72
1	59156155	.	C	T	2600.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12076049;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12076049" target="_blank">rs12076049</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.219-66G>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000472487;SAVANT_GENE=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;SAVANT_INFO=-/45.4kb/20/7.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.219-66G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYSM1+c.219-66G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59156155">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,18:43:99:518,0,784:127	0/1:26,13:39:99:338,0,879:127	0/1:19,15:34:99:433,0,666:127
1	59160885	.	A	G	5813.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2064374;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2064374" target="_blank">rs2064374</a>;ExAC.Info.AC=48763;ExAC.Info.AN=124992;ExAC.Info.AF=0.390;ExAC.Info.AC_Het=28915;ExAC.Info.AC_Hom=9604;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.69-6T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.69T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000472487;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000472487;SAVANT_GENE=MYSM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYSM1" target="_blank">MYSM1</a>;SAVANT_INFO=-/45.4kb/20/7.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.69-6T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYSM1+c.69-6T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59160885">View</a>	GT:AD:DP:GQ:PL:TP	0/1:40,35:75:99:907,0,1072:127	0/1:44,27:71:99:764,0,1263:127	0/1:32,43:75:99:1189,0,850:127
1	59248813	.	G	C	19358.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2760499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2760499" target="_blank">rs2760499</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=71;snpeff.Amino_Acid_Change=c.-71C>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=JUN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JUN" target="_blank">JUN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371222;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371222;SAVANT_GENE=JUN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JUN" target="_blank">JUN</a>;SAVANT_INFO=-/3.3kb/1/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-71C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JUN+c.-71C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59248813">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2243,177,0:127	1|1:0,81:81:99:3052,243,0:127	1|1:0,65:65:99:2578,195,0:127
1	59787350	.	T	G	10081.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs835409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=835409" target="_blank">rs835409</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=48186;ExAC.Info.AN=124522;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=28531;ExAC.Info.AC_Hom=9332;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaT/aaG;snpeff.Amino_Acid_Change=p.Asn43Lys/c.129T>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=FGGY;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGGY" target="_blank">FGGY</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371218;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371218;SAVANT_GENE=FGGY;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGGY" target="_blank">FGGY</a>;SAVANT_INFO=+/465.7kb/17/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.129T>G_p.Asn43Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FGGY+c.129T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59787350">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1690,126,0:122	1|0:25,26:51:99:852,0,745:122	1|1:0,42:42:99:1606,126,0:122
1	59844471	.	G	A	42617.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=679;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs835435;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=835435" target="_blank">rs835435</a>;ExAC.Info.AC=53696;ExAC.Info.AN=126686;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=30001;ExAC.Info.AC_Hom=11813;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro172Pro/c.516G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=FGGY;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGGY" target="_blank">FGGY</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371218;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371218;SAVANT_GENE=FGGY;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGGY" target="_blank">FGGY</a>;SAVANT_INFO=+/465.7kb/17/2.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.516G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FGGY+c.516G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:59844471">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,191:191:99:6593,573,0:127	1|0:122,136:258:99:3748,0,3258:127	1|1:0,230:230:99:8040,690,0:127
1	60228310	.	T	TTC	13697.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=306;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10626387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10626387" target="_blank">rs10626387</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.107-7231_107-7232insGA;snpeff.Gene_Name=RP4-782L23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-782L232" target="_blank">RP4-782L232</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000443012;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=55;snpeff.Amino_Acid_Change=c.*55_*56insTC;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=FGGY;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-782L232" target="_blank">RP4-782L232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371218;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371218;SAVANT_GENE=FGGY;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGGY" target="_blank">FGGY</a>;SAVANT_INFO=+/465.7kb/17/2.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*55_*56insCT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FGGY+c.*55_*56insCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:60228310">View</a>	GT:AD:DP:GQ:PL:TP	0/1:62,54:116:99:2045,0,2411:127	0/1:42,55:97:99:2165,0,1589:127	0/1:52,41:93:99:1602,0,2052:127
1	60280749	.	GT	G	33693.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=289;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs113730234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113730234" target="_blank">rs113730234</a>;ExAC.Info.AC=21750;ExAC.Info.AN=21754;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=6958;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=40;snpeff.Amino_Acid_Change=c.-40delT;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371208;SAVANT_GENE=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;SAVANT_INFO=+/61.5kb/22/5.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-40delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HOOK1+c.-40delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:60280749">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3721,278,0:127	1|1:0,91:91:99:3659,274,0:127	1|1:0,105:105:99:4196,314,0:127
1	60299820	.	C	G	27528.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs618716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=618716" target="_blank">rs618716</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.406+611C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.407C>G;snpeff.Amino_Acid_length=728;snpeff.Gene_Name=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371208;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371208;SAVANT_GENE=HOOK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOOK1" target="_blank">HOOK1</a>;SAVANT_INFO=+/61.5kb/22/5.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.406+611C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HOOK1+c.406+611C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:60299820">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4299,399,0:127	1|1:0,160:160:99:5317,481,0:127	1|0:82,70:152:99:1908,0,2282:127
1	60466814	.	T	C	2074.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs626251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=626251" target="_blank">rs626251</a>;ExAC.Info.AC=63214;ExAC.Info.AN=126558;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=30196;ExAC.Info.AC_Hom=16053;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Gaa;snpeff.Amino_Acid_Change=p.Lys403Glu/c.1207A>G;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371201;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371201;SAVANT_GENE=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;SAVANT_INFO=-/83.4kb/12/2.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1207A>G_p.Lys403Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf87+c.1207A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:60466814">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,1928:127	0|0:90,0:90:99:0,270,2926:127	0|1:27,39:66:99:1056,0,749:127
1	60466840	.	TA	T	937.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs35944236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35944236" target="_blank">rs35944236</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1193-13delT;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371201;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371201;SAVANT_GENE=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;SAVANT_INFO=-/83.4kb/12/2.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1193-13delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf87+c.1193-13delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:60466840">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,2:50:96:0,96,1141:95	0|0:56,2:58:99:0,120,1379:95	0|1:28,26:54:99:492,0,556:95
1	60474375	.	C	T	3166.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17119974;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17119974" target="_blank">rs17119974</a>;ExAC.Info.AC=2605;ExAC.Info.AN=22446;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=2002;ExAC.Info.AC_Hom=168;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1192+1689G>A;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371201;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371201;SAVANT_GENE=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;SAVANT_INFO=-/83.4kb/12/2.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1192+1689G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf87+c.1192+1689G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:60474375">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,288,3175:127	0|0:128,0:128:99:0,383,4241:127	0|1:52,57:109:99:1602,0,1474:127
1	60503594	.	C	T	2778.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72669614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72669614" target="_blank">rs72669614</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.863+70G>A;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371201;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371201;SAVANT_GENE=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;SAVANT_INFO=-/83.4kb/12/2.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.863+70G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf87+c.863+70G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:60503594">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,0:95:99:0,285,3371:127	0|0:82,0:82:99:0,247,3191:127	0|1:47,49:96:99:1408,0,1330:127
1	60503762	.	T	C	4569.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17560663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17560663" target="_blank">rs17560663</a>;ExAC.Info.AC=16638;ExAC.Info.AN=126686;ExAC.Info.AF=0.131;ExAC.Info.AC_Het=13963;ExAC.Info.AC_Hom=1186;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu255Leu/c.765A>G;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371201;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371201;SAVANT_GENE=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;SAVANT_INFO=-/83.4kb/12/2.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.765A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf87+c.765A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:60503762">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,31:54:99:1140,0,633:127	1|0:46,29:75:99:965,0,1370:127	0|0:50,0:50:99:0,150,1755:127
1	60505783	.	G	C	5268.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=488;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12737449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12737449" target="_blank">rs12737449</a>;ExAC.Info.AC=17357;ExAC.Info.AN=126704;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=14675;ExAC.Info.AC_Hom=1341;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Gtc;snpeff.Amino_Acid_Change=p.Leu185Val/c.553C>G;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371201;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371201;SAVANT_GENE=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;SAVANT_INFO=-/83.4kb/12/2.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.553C>G_p.Leu185Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf87+c.553C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:60505783">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,426,4969:127	0|0:180,0:180:99:0,541,6740:127	0|1:78,88:166:99:2653,0,2312:127
1	60506744	.	G	A	2078.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10493277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10493277" target="_blank">rs10493277</a>;ExAC.Info.AC=17351;ExAC.Info.AN=126704;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=14667;ExAC.Info.AC_Hom=1332;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser134Ser/c.402C>T;snpeff.Amino_Acid_length=546;snpeff.Gene_Name=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371201;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371201;SAVANT_GENE=C1orf87;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf87" target="_blank">C1orf87</a>;SAVANT_INFO=-/83.4kb/12/2.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.402C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf87+c.402C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:60506744">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2480:127	0|0:90,0:90:99:0,270,3177:127	0|1:29,34:63:99:1058,0,794:127
1	61548344	.	TTC	T	256.09	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs113913435;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113913435" target="_blank">rs113913435</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.105-88_105-87delTC;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371189;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371189;SAVANT_GENE=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;SAVANT_INFO=+/380.9kb/12/9.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.105-65_105-64delCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFIA+c.105-65_105-64delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:61548344">View</a>	GT:AD:DP:GQ:PL:TP	1|0:84,8:92:6:6,0,2507:6	0|0:95,7:102:83:0,83,2893:6	1|0:79,9:88:27:27,0,2375:6
1	61869783	.	G	A	5568.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=634;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2236059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236059" target="_blank">rs2236059</a>;ExAC.Info.AC=40368;ExAC.Info.AN=126700;ExAC.Info.AF=0.319;ExAC.Info.AC_Het=26440;ExAC.Info.AC_Hom=6959;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro406Pro/c.1218G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371189;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371189;SAVANT_GENE=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;SAVANT_INFO=+/380.9kb/12/9.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1218G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFIA+c.1218G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:61869783">View</a>	GT:AD:DP:GQ:PL:TP	0|0:190,0:190:99:0,573,6373:127	0|0:248,0:248:99:0,745,8284:127	0|1:94,102:196:99:2803,0,2664:127
1	61872215	.	GC	G	19.77	LowQual	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=79;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs58081092;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58081092" target="_blank">rs58081092</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1390-18delC;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371189;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371189;SAVANT_GENE=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;SAVANT_INFO=+/380.9kb/12/9.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1390-5delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFIA+c.1390-5delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:61872215">View</a>	GT:AD:DP:GQ:PL:TP	0|0:17,0:17:49:0,49,586:32	0|0:18,0:18:54:0,54,623:32	0|1:38,6:44:33:33,0,1019:32
1	61872228	.	C	T	1796.76	VQSRTrancheSNP99.90to100.00	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs28641100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28641100" target="_blank">rs28641100</a>;ExAC.Info.AC=19248;ExAC.Info.AN=118272;ExAC.Info.AF=0.163;ExAC.Info.AC_Het=15511;ExAC.Info.AC_Hom=778;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1390-6C>T;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371189;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1390C>T;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371189;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371189;SAVANT_GENE=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;SAVANT_INFO=+/380.9kb/12/9.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1390-6C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFIA+c.1390-6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:61872228">View</a>	GT:AD:DP:GQ:PL:TP	0|0:21,0:21:61:0,61,610:57	0|0:20,0:20:60:0,60,570:57	0|1:15,28:43:99:917,0,275:57
1	61892301	.	T	TG	47365.89	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=569;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5774558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5774558" target="_blank">rs5774558</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1647+74_1647+75insG;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371189;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371189;SAVANT_GENE=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;SAVANT_INFO=+/380.9kb/12/9.2kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1647+74dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFIA+c.1647+74dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:61892301">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,164:165:99:6140,495,0:127	1|1:0,232:232:99:8702,700,0:127	1|1:0,172:172:99:6417,517,0:127
1	61921185	.	A	AT	9141.29	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=422;MQ=70.09;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11423561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11423561" target="_blank">rs11423561</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=194;snpeff.Amino_Acid_Change=c.*194_*195insT;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371189;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371189;SAVANT_GENE=NFIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIA" target="_blank">NFIA</a>;SAVANT_INFO=+/380.9kb/12/9.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*206dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFIA+c.*206dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:61921185">View</a>	GT:AD:DP:GQ:PL:TP	0/1:96,36:132:99:530,0,1914:55	0/1:92,76:168:99:1360,0,1645:55	0/1:16,106:122:55:2281,0,55:55
1	62149237	.	C	G	5610.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12134205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12134205" target="_blank">rs12134205</a>;ExAC.Info.AC=18431;ExAC.Info.AN=117626;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=6537;ExAC.Info.AC_Hom=1007;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.700-19G>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=TM2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM2D1" target="_blank">TM2D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371180;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371180;SAVANT_GENE=TM2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM2D1" target="_blank">TM2D1</a>;SAVANT_INFO=-/44.4kb/7/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.700-19G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TM2D1+c.700-19G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62149237">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,29:67:99:763,0,1172:127	0/1:30,36:66:99:1122,0,945:127	0/1:26,22:48:99:710,0,739:127
1	62232031	.	C	T	33091.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=410;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1286835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1286835" target="_blank">rs1286835</a>;ExAC.Info.AC=122149;ExAC.Info.AN=126704;ExAC.Info.AF=0.964;ExAC.Info.AC_Het=3746;ExAC.Info.AC_Hom=59196;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile90Ile/c.270C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.270C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.270C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62232031">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,114:114:99:3788,343,0:127	1|1:0,175:175:99:5718,526,0:127	1|1:0,121:121:99:4084,364,0:127
1	62232130	.	T	C	21821.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=406;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11207827;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11207827" target="_blank">rs11207827</a>;ExAC.Info.AC=30980;ExAC.Info.AN=126678;ExAC.Info.AF=0.245;ExAC.Info.AC_Het=22497;ExAC.Info.AC_Hom=4232;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.369T>C;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile123Ile/c.369T>C;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.369T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.369T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62232130">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,135:135:99:4566,405,0:127	1|0:67,84:151:99:2487,0,1734:127	1|0:60,60:120:99:1748,0,1674:127
1	62261168	.	A	G	35443.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=546;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7516332;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7516332" target="_blank">rs7516332</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=62124;ExAC.Info.AN=126700;ExAC.Info.AF=0.490;ExAC.Info.AC_Het=30134;ExAC.Info.AC_Hom=15979;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1198A>G;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1198A>G;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1198A>G;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1198A>G;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Gta;snpeff.Amino_Acid_Change=p.Ile400Val/c.1198A>G;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1198A>G_p.Ile400Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.1198A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62261168">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,170:171:99:5973,478,0:127	1|1:0,193:193:99:6664,579,0:127	1|0:103,79:182:99:2126,0,2809:127
1	62330080	.	T	G	34255.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2799627;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2799627" target="_blank">rs2799627</a>;ExAC.Info.AC=126307;ExAC.Info.AN=126704;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=371;ExAC.Info.AC_Hom=62958;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atT/atG;snpeff.Amino_Acid_Change=p.Ile870Met/c.2610T>G;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2610T>G_p.Ile870Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.2610T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62330080">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,113:114:99:4084,306,0:127	1|1:0,167:167:99:6163,502,0:127	1|1:0,114:114:99:4303,343,0:127
1	62330374	.	A	T	4120.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17371993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17371993" target="_blank">rs17371993</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2835+69A>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2835+69A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.2835+69A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62330374">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,35:57:99:918,0,488:127	0|0:93,0:93:99:0,279,2897:127	1|0:22,32:54:99:985,0,655:127
1	62365217	.	C	T	20345.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1412622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1412622" target="_blank">rs1412622</a>;ExAC.Info.AC=79983;ExAC.Info.AN=126680;ExAC.Info.AF=0.631;ExAC.Info.AC_Het=28240;ExAC.Info.AC_Hom=25694;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3132-38C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3132-38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.3132-38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62365217">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2166,192,0:127	1|1:0,115:115:99:4217,345,0:127	1|1:0,68:68:99:2514,204,0:127
1	62380223	.	G	T	5308.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=488;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11585422;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11585422" target="_blank">rs11585422</a>;ExAC.Info.AC=34669;ExAC.Info.AN=126538;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=21877;ExAC.Info.AC_Hom=5901;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3493-36G>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3493-36G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.3493-36G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62380223">View</a>	GT:AD:DP:GQ:PL:TP	0|0:157,0:157:99:0,472,5238:127	0|1:91,93:184:99:2673,0,2644:127	0|0:147,0:147:99:0,442,5081:127
1	62380270	.	C	T	23673.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=564;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1134766;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1134766" target="_blank">rs1134766</a>;ExAC.Info.AC=94675;ExAC.Info.AN=126648;ExAC.Info.AF=0.748;ExAC.Info.AC_Het=23100;ExAC.Info.AC_Hom=35568;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn1168Asn/c.3504C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.3504C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.3504C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62380270">View</a>	GT:AD:DP:GQ:PL:TP	1|0:102,81:183:99:2156,0,2830:127	0|1:109,108:217:99:3138,0,3004:127	1|1:1,163:164:99:5562,449,0:127
1	62380298	.	G	A	25107.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=570;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1056513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1056513" target="_blank">rs1056513</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Weight_variance|_association_with;hgmd_2014.2.OMIM_ID=603199;hgmd_2014.2.PubMed=23251661;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23251661" target="_blank">23251661</a>;ExAC.Info.AC=71571;ExAC.Info.AN=126682;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=28519;ExAC.Info.AC_Hom=21395;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Agt;snpeff.Amino_Acid_Change=p.Gly1178Ser/c.3532G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.3532G>A_p.Gly1178Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.3532G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62380298">View</a>	GT:AD:DP:GQ:PL:TP	1|0:103,88:191:99:2341,0,2770:127	0|1:98,113:211:99:3140,0,2726:127	1|1:1,167:168:99:5913,471,0:127
1	62393394	.	A	G	25128.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=650;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2251182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2251182" target="_blank">rs2251182</a>;ExAC.Info.AC=108305;ExAC.Info.AN=126688;ExAC.Info.AF=0.855;ExAC.Info.AC_Het=15433;ExAC.Info.AC_Hom=46262;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3571-8A>G;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3571A>G;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3571-8A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.3571-8A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62393394">View</a>	GT:AD:DP:GQ:PL:TP	1|0:112,102:214:99:2727,0,3248:127	0|1:147,93:240:99:2442,0,4639:127	1|1:0,196:196:99:6638,584,0:127
1	62456014	.	G	A	14466.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1134767;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1134767" target="_blank">rs1134767</a>;ExAC.Info.AC=53470;ExAC.Info.AN=126690;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=30014;ExAC.Info.AC_Hom=11683;snpeff.Effect=sequence_feature[domain:PDZ_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3845G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3845G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3845G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg1282His/c.3845G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.3845G>A_p.Arg1282His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.3845G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62456014">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,73:122:99:2000,0,1317:127	0|0:137,0:137:99:0,412,4948:127	1|1:1,145:146:99:4751,395,0:127
1	62456048	.	G	A	10140.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs12730210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12730210" target="_blank">rs12730210</a>;ExAC.Info.AC=34728;ExAC.Info.AN=126678;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=24321;ExAC.Info.AC_Hom=5101;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3867+12G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3868G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3868G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3868G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3868G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3868G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.3867+12G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.3867+12G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62456048">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,44:74:99:1282,0,847:127	0|0:96,0:96:99:0,288,3515:127	1|1:0,95:95:99:3315,286,0:127
1	62483657	.	C	T	2278.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=240;MQ=69.89;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7528797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7528797" target="_blank">rs7528797</a>;ExAC.Info.AC=16806;ExAC.Info.AN=126670;ExAC.Info.AF=0.133;ExAC.Info.AC_Het=13844;ExAC.Info.AC_Hom=1464;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3959+38C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3960C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3960C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3960C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3960C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3960C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.3959+38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.3959+38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62483657">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2976:127	0|1:42,43:85:99:1158,0,1293:127	0|0:73,0:73:99:0,219,2658:127
1	62516683	.	G	C	29660.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=604;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2498982;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2498982" target="_blank">rs2498982</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=70015;ExAC.Info.AN=126698;ExAC.Info.AF=0.553;ExAC.Info.AC_Het=29655;ExAC.Info.AC_Hom=20103;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Ctc;snpeff.Amino_Acid_Change=p.Val1360Leu/c.4078G>C;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4078G>C_p.Val1360Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.4078G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62516683">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,84:171:99:2450,0,2355:127	0|1:115,115:230:99:3274,0,3364:127	1|1:0,203:203:99:7165,610,0:127
1	62579823	.	G	A	12654.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1475563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1475563" target="_blank">rs1475563</a>;ExAC.Info.AC=83746;ExAC.Info.AN=126702;ExAC.Info.AF=0.661;ExAC.Info.AC_Het=27339;ExAC.Info.AC_Hom=28151;snpeff.Effect=sequence_feature[domain:PDZ_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4560G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4560G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4560G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu1520Glu/c.4560G>A;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.4560G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.4560G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62579823">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,57:119:99:1472,0,1688:127	0|1:63,46:109:99:1312,0,1986:127	1|1:0,72:72:99:2539,216,0:127
1	62587014	.	T	TA	5398.33	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=224;MQ=70.07;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4019806;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4019806" target="_blank">rs4019806</a>;ExAC.Info.AC=51403;ExAC.Info.AN=123230;ExAC.Info.AF=0.417;ExAC.Info.AC_Het=32551;ExAC.Info.AC_Hom=3041;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5005+48_5005+49insA;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.5005+59dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.5005+59dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62587014">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,33:62:99:686,0,544:21	0/1:57,41:98:99:780,0,1211:21	0/1:8,56:64:21:1251,0,21:21
1	62594593	.	C	T	12819.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2476194;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2476194" target="_blank">rs2476194</a>;ExAC.Info.AC=59220;ExAC.Info.AN=125380;ExAC.Info.AF=0.472;ExAC.Info.AC_Het=27808;ExAC.Info.AC_Hom=15670;snpeff.Effect=sequence_feature[domain:PDZ_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5247C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5247C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5247C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5247C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn1749Asn/c.5247C>T;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=Ex41;SAVANT_HGVS=c.5247C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.5247C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62594593">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,38:94:99:1045,0,1690:127	0|0:138,1:139:99:0,378,4761:127	1|1:0,118:118:99:4174,355,0:127
1	62594677	.	T	C	6411.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2481665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2481665" target="_blank">rs2481665</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5271+60T>C;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5272T>C;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5272T>C;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5272T>C;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5272T>C;snpeff.Amino_Acid_length=1801;snpeff.Gene_Name=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371158;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371158;SAVANT_GENE=INADL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INADL" target="_blank">INADL</a>;SAVANT_INFO=+/421.4kb/43/8.5kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.5271+60T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INADL+c.5271+60T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62594677">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,20:51:99:515,0,973:127	0|0:72,0:72:99:0,216,2558:127	1|1:0,57:57:99:2158,171,0:127
1	62672546	.	G	A	25218.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2457829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2457829" target="_blank">rs2457829</a>;ExAC.Info.AC=108757;ExAC.Info.AN=126640;ExAC.Info.AF=0.859;ExAC.Info.AC_Het=14911;ExAC.Info.AC_Hom=46455;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly82Gly/c.246G>A;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000498273;SAVANT_GENE=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;SAVANT_INFO=+/17.5kb/4/3.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.246G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=L1TD1+c.246G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62672546">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3558,321,0:127	1|1:0,122:122:99:4131,367,0:127	1|1:0,120:120:99:4007,360,0:127
1	62673037	.	T	C	35453.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7542665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7542665" target="_blank">rs7542665</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=16374;ExAC.Info.AN=27026;ExAC.Info.AF=0.606;ExAC.Info.AC_Het=5504;ExAC.Info.AC_Hom=4818;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTa/gCa;snpeff.Amino_Acid_Change=p.Val246Ala/c.737T>C;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000498273;SAVANT_GENE=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;SAVANT_INFO=+/17.5kb/4/3.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.737T>C_p.Val246Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=L1TD1+c.737T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62673037">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,144:144:99:5095,433,0:127	1|1:0,172:172:99:6145,517,0:127	1|1:0,113:113:99:4306,339,0:127
1	62673225	.	G	A	22852.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7533274;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7533274" target="_blank">rs7533274</a>;ExAC.Info.AC=14721;ExAC.Info.AN=25818;ExAC.Info.AF=0.570;ExAC.Info.AC_Het=5625;ExAC.Info.AC_Hom=4132;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.925G>A;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val309Met/c.925G>A;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000498273;SAVANT_GENE=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;SAVANT_INFO=+/17.5kb/4/3.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.925G>A_p.Val309Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=L1TD1+c.925G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62673225">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2610,234,0:127	1|1:0,116:116:99:3821,349,0:127	1|1:0,106:106:99:3464,318,0:127
1	62673287	.	A	C	3717.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2457828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2457828" target="_blank">rs2457828</a>;ExAC.Info.AC=2776;ExAC.Info.AN=26342;ExAC.Info.AF=0.105;ExAC.Info.AC_Het=2139;ExAC.Info.AC_Hom=197;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaA/aaC;snpeff.Amino_Acid_Change=p.Lys329Asn/c.987A>C;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000498273;SAVANT_GENE=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;SAVANT_INFO=+/17.5kb/4/3.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.987A>C_p.Lys329Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=L1TD1+c.987A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62673287">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,15:38:99:481,0,702:127	1|0:28,27:55:99:926,0,908:127	0|0:60,0:60:99:0,180,2169:127
1	62675619	.	C	T	5716.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4625314;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4625314" target="_blank">rs4625314</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=52720;ExAC.Info.AN=126684;ExAC.Info.AF=0.416;ExAC.Info.AC_Het=28398;ExAC.Info.AC_Hom=12093;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala391Ala/c.1173C>T;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000498273;SAVANT_GENE=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;SAVANT_INFO=+/17.5kb/4/3.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1173C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=L1TD1+c.1173C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62675619">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,24:41:99:740,0,545:101	1|1:0,53:53:99:1897,159,0:101	0|0:34,0:34:99:0,102,1257:101
1	62675892	.	A	G	34193.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=428;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2481694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2481694" target="_blank">rs2481694</a>;ExAC.Info.AC=76632;ExAC.Info.AN=126694;ExAC.Info.AF=0.605;ExAC.Info.AC_Het=28258;ExAC.Info.AC_Hom=24009;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1446A>G;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu482Glu/c.1446A>G;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000498273;SAVANT_GENE=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;SAVANT_INFO=+/17.5kb/4/3.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1446A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=L1TD1+c.1446A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62675892">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:4432,393,0:127	1|1:0,174:174:99:6006,523,0:127	1|1:0,123:123:99:4212,370,0:127
1	62676284	.	C	T	2176.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2886644;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2886644" target="_blank">rs2886644</a>;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCa/aTa;snpeff.Amino_Acid_Change=p.Thr613Ile/c.1838C>T;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000498273;SAVANT_GENE=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;SAVANT_INFO=+/17.5kb/4/3.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1838C>T_p.Thr613Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=L1TD1+c.1838C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62676284">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,0:95:99:0,285,3351:127	0|1:58,43:101:99:1107,0,1821:127	0|0:79,0:79:99:0,238,2990:127
1	62676612	.	A	G	17426.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs66958136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66958136" target="_blank">rs66958136</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=5130;ExAC.Info.AN=27844;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=3584;ExAC.Info.AC_Hom=563;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys722Lys/c.2166A>G;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000498273;SAVANT_GENE=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;SAVANT_INFO=+/17.5kb/4/3.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.2166A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=L1TD1+c.2166A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62676612">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:3110,247,0:127	1|0:50,44:94:99:1426,0,1567:127	1|1:0,81:81:99:3073,244,0:127
1	62677048	.	G	T	9691.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1056517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1056517" target="_blank">rs1056517</a>;ExAC.Info.AC=58059;ExAC.Info.AN=125876;ExAC.Info.AF=0.461;ExAC.Info.AC_Het=27084;ExAC.Info.AC_Hom=14276;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=4;snpeff.Amino_Acid_Change=c.*4G>T;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000498273;SAVANT_GENE=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;SAVANT_INFO=+/17.5kb/4/3.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*4G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=L1TD1+c.*4G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62677048">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,22:22:66:990,66,0:101	1|1:0,38:38:99:1546,114,0:101	1|1:0,33:33:99:1523,102,0:101
1	62677050	.	C	T	5750.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs12137401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12137401" target="_blank">rs12137401</a>;ExAC.Info.AC=26602;ExAC.Info.AN=125998;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=19079;ExAC.Info.AC_Hom=3291;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=6;snpeff.Amino_Acid_Change=c.*6C>T;snpeff.Amino_Acid_length=865;snpeff.Gene_Name=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000498273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000498273;SAVANT_GENE=L1TD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=L1TD1" target="_blank">L1TD1</a>;SAVANT_INFO=+/17.5kb/4/3.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*6C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=L1TD1+c.*6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62677050">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,22:22:66:677,66,0:65	1|0:18,19:37:99:465,0,573:65	1|1:0,33:33:99:1205,99,0:65
1	62704134	.	A	G	4820.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs41289438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41289438" target="_blank">rs41289438</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2884-81T>C;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.2884-81T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.2884-81T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62704134">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,14:28:99:401,0,398:98	1|1:0,50:50:99:1721,150,0:98	0|0:33,0:33:99:0,99,1214:98
1	62713224	.	C	G	11638.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2941679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2941679" target="_blank">rs2941679</a>;ExAC.Info.AC=123478;ExAC.Info.AN=126698;ExAC.Info.AF=0.975;ExAC.Info.AC_Het=3114;ExAC.Info.AC_Hom=60092;snpeff.Effect=sequence_feature[repeat:ANK_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2803C>G;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ctg;snpeff.Amino_Acid_Change=p.Val935Leu/c.2803G>C;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2803G>C_p.Val935Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.2803G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62713224">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1402,117,0:116	1|1:0,45:45:99:1720,135,0:116	1|1:0,39:39:99:1346,117,0:116
1	62713246	.	G	A	5118.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs10889315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10889315" target="_blank">rs10889315</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=49330;ExAC.Info.AN=126698;ExAC.Info.AF=0.389;ExAC.Info.AC_Het=29017;ExAC.Info.AC_Hom=10117;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His927His/c.2781C>T;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2781C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.2781C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62713246">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,20:34:99:578,0,391:127	1|1:0,49:49:99:1746,147,0:127	0|0:45,0:45:99:0,135,1538:127
1	62728784	.	A	G	6148.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2666472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2666472" target="_blank">rs2666472</a>;ExAC.Info.AC=93952;ExAC.Info.AN=126678;ExAC.Info.AF=0.742;ExAC.Info.AC_Het=22840;ExAC.Info.AC_Hom=34846;snpeff.Effect=sequence_feature[repeat:ANK_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2519A>G;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2519A>G;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val840Ala/c.2519T>C;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.2519T>C_p.Val840Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.2519T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62728784">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,18:18:54:678,54,0:59	1|1:0,20:20:60:655,60,0:59	1|1:0,33:33:99:1136,99,0:59
1	62728838	.	T	C	19856.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2258470;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2258470" target="_blank">rs2258470</a>;ExAC.Info.AC=94124;ExAC.Info.AN=126698;ExAC.Info.AF=0.743;ExAC.Info.AC_Het=23117;ExAC.Info.AC_Hom=35227;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His822Arg/c.2465A>G;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.2465A>G_p.His822Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.2465A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62728838">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2957,205,0:127	1|1:0,52:52:99:2455,171,0:127	1|1:0,61:61:99:2975,205,0:127
1	62728861	.	T	C	24829.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2260581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2260581" target="_blank">rs2260581</a>;ExAC.Info.AC=94101;ExAC.Info.AN=126686;ExAC.Info.AF=0.743;ExAC.Info.AC_Het=23098;ExAC.Info.AC_Hom=35241;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys814Lys/c.2442A>G;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.2442A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.2442A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62728861">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:3517,253,0:127	1|1:0,76:76:99:3244,234,0:127	1|1:0,81:81:99:3493,244,0:127
1	62728918	.	G	A	30569.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2262110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2262110" target="_blank">rs2262110</a>;ExAC.Info.AC=94261;ExAC.Info.AN=126684;ExAC.Info.AF=0.744;ExAC.Info.AC_Het=23005;ExAC.Info.AC_Hom=35443;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro795Pro/c.2385C>T;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.2385C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.2385C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62728918">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3879,340,0:127	1|1:0,120:120:99:4139,360,0:127	1|1:0,119:119:99:4094,358,0:127
1	62729015	.	G	A	24019.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2262106;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2262106" target="_blank">rs2262106</a>;ExAC.Info.AC=91866;ExAC.Info.AN=126050;ExAC.Info.AF=0.729;ExAC.Info.AC_Het=17955;ExAC.Info.AC_Hom=27039;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2320-32C>T;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.2320-32C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.2320-32C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62729015">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:2909,270,0:127	1|1:0,100:100:99:3276,300,0:127	1|1:0,102:102:99:3477,306,0:127
1	62732421	.	T	C	5315.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11207949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11207949" target="_blank">rs11207949</a>;ExAC.Info.AC=36268;ExAC.Info.AN=126702;ExAC.Info.AF=0.286;ExAC.Info.AC_Het=23432;ExAC.Info.AC_Hom=6404;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr768Ala/c.2302A>G;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.2302A>G_p.Thr768Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.2302A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62732421">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,22:54:99:527,0,850:127	0|0:71,0:71:99:0,213,2310:127	1|1:0,52:52:99:1749,156,0:127
1	62738904	.	T	C	4586.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7516290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7516290" target="_blank">rs7516290</a>;ExAC.Info.AC=92126;ExAC.Info.AN=124796;ExAC.Info.AF=0.738;ExAC.Info.AC_Het=20675;ExAC.Info.AC_Hom=32008;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro624Pro/c.1872A>G;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1872A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.1872A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62738904">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,17:17:51:648,51,0:56	1|1:0,19:19:57:706,57,0:56	1|1:0,21:21:63:797,63,0:56
1	62739198	.	G	A	12370.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs17855078;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17855078" target="_blank">rs17855078</a>;ExAC.Info.AC=39023;ExAC.Info.AN=126700;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=25855;ExAC.Info.AC_Hom=6550;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser526Ser/c.1578C>T;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1578C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.1578C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62739198">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,42:93:99:1228,0,1387:127	1|1:0,116:116:99:4037,349,0:127	0|0:87,1:88:99:0,224,3068:127
1	62740065	.	A	G	15393.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12127930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12127930" target="_blank">rs12127930</a>;ExAC.Info.AC=57129;ExAC.Info.AN=126700;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=30046;ExAC.Info.AC_Hom=13406;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.711A>G;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly237Gly/c.711T>C;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.711T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.711T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62740065">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,46:95:99:1294,0,1366:127	1|1:2,147:149:99:5080,375,0:127	0|0:119,0:119:99:0,358,4174:127
1	62740446	.	T	C	20536.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2666506;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2666506" target="_blank">rs2666506</a>;ExAC.Info.AC=94478;ExAC.Info.AN=126688;ExAC.Info.AF=0.746;ExAC.Info.AC_Het=23069;ExAC.Info.AC_Hom=35494;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro110Pro/c.330A>G;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.330A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.330A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62740446">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2961,199,0:127	1|1:0,68:68:99:3169,214,0:127	1|1:0,50:50:99:2366,160,0:127
1	62740449	.	T	C	20638.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2666507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2666507" target="_blank">rs2666507</a>;ExAC.Info.AC=93528;ExAC.Info.AN=126686;ExAC.Info.AF=0.738;ExAC.Info.AC_Het=23646;ExAC.Info.AC_Hom=34743;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser109Ser/c.327A>G;snpeff.Amino_Acid_length=995;snpeff.Gene_Name=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371153;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371153;SAVANT_GENE=KANK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK4" target="_blank">KANK4</a>;SAVANT_INFO=-/82.4kb/10/4.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.327A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KANK4+c.327A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62740449">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2961,199,0:127	1|1:0,73:73:99:3243,220,0:127	1|1:0,50:50:99:2366,160,0:127
1	62945418	.	A	G	2988.94	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=39;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypobetalipoproteinemia|_familial|_2|_605019_(3)|Hypobetalipoproteinemia|_familial|_2|_605019_(3);dbSNP139.ID=rs1183260;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1183260" target="_blank">rs1183260</a>;ExAC.Info.AC=8758;ExAC.Info.AN=15922;ExAC.Info.AF=0.550;ExAC.Info.AC_Het=2728;ExAC.Info.AC_Hom=2054;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5467-1913T>C;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340370;SAVANT_GENE=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;SAVANT_INFO=-/233.4kb/49/6.9kb;SAVANT_LOC=In42/43;SAVANT_HGVS=c.5416-1922T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK7+c.5416-1922T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62945418">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:447,45,0:23	1|1:0,8:8:24:297,24,0:23	1|1:0,16:16:48:544,48,0:23
1	62953183	.	C	T	9770.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypobetalipoproteinemia|_familial|_2|_605019_(3)|Hypobetalipoproteinemia|_familial|_2|_605019_(3);dbSNP139.ID=rs1168025;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1168025" target="_blank">rs1168025</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5466+1422G>A;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340370;SAVANT_GENE=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;SAVANT_INFO=-/233.4kb/49/6.9kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.5401-100G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK7+c.5401-100G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:62953183">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1316,123,0:127	1|1:0,46:46:99:1567,138,0:127	1|1:0,49:49:99:1732,147,0:127
1	63027411	.	AG	A	38230.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=473;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypobetalipoproteinemia|_familial|_2|_605019_(3)|Hypobetalipoproteinemia|_familial|_2|_605019_(3);dbSNP139.ID=rs5774610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5774610" target="_blank">rs5774610</a>;ExAC.Info.AC=125502;ExAC.Info.AN=126566;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=963;ExAC.Info.AC_Hom=61876;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2113-38delC;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2113delG;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2113delG;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2113delG;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2113delG;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2113delG;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2113delG;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000340370;SAVANT_GENE=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;SAVANT_INFO=-/233.4kb/49/6.9kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2113-38delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK7+c.2113-38delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63027411">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,161:161:99:6480,485,0:127	1|1:0,173:173:99:6921,520,0:127	1|1:1,138:139:99:5496,391,0:127
1	63044645	.	CA	C	2263.29	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=219;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;OMIM_phenotypes.name=Hypobetalipoproteinemia|_familial|_2|_605019_(3)|Hypobetalipoproteinemia|_familial|_2|_605019_(3);dbSNP139.ID=rs199915737;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199915737" target="_blank">rs199915737</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1872-9delT;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872delA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872delA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872delA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872delA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872delA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872delA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000340370;SAVANT_GENE=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;SAVANT_INFO=-/233.4kb/49/6.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1872-9delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK7+c.1872-9delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63044645">View</a>	GT:AD:DP:GQ:PL	0/1:42,16:62:99:148,0,1178	./0:32,17:81:99:462,340,1481	0/1:43,31:76:99:464,0,1030
1	63044645	.	CA	CAA	2263.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=219;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;OMIM_phenotypes.name=Hypobetalipoproteinemia|_familial|_2|_605019_(3)|Hypobetalipoproteinemia|_familial|_2|_605019_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1872-9_1872-10insT;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872_1873insA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872_1873insA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872_1873insA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872_1873insA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872_1873insA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872_1873insA;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000340370;SAVANT_GENE=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;SAVANT_INFO=-/233.4kb/49/6.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1872-9dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK7+c.1872-9dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63044645">View</a>	GT:AD:DP:GQ:PL	./0:42,4:62:99:148,230,1253	0/1:32,32:81:99:462,0,690	./0:43,2:76:99:464,628,1755
1	63113511	.	C	A	33430.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=452;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypobetalipoproteinemia|_familial|_2|_605019_(3)|Hypobetalipoproteinemia|_familial|_2|_605019_(3);dbSNP139.ID=rs746735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=746735" target="_blank">rs746735</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.733-64G>T;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340370;SAVANT_GENE=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;SAVANT_INFO=-/233.4kb/49/6.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.733-64G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK7+c.733-64G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63113511">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:4473,394,0:127	1|1:0,163:163:99:5769,490,0:127	1|1:0,158:158:99:5585,475,0:127
1	63153866	.	C	G	10038.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hypobetalipoproteinemia|_familial|_2|_605019_(3)|Hypobetalipoproteinemia|_familial|_2|_605019_(3);dbSNP139.ID=rs183409343;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=183409343" target="_blank">rs183409343</a>;ExAC.Info.AC=847;ExAC.Info.AN=18084;ExAC.Info.AF=0.047;ExAC.Info.AC_Het=607;ExAC.Info.AC_Hom=29;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.38+32G>C;snpeff.Amino_Acid_length=2129;snpeff.Gene_Name=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251157;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340370;SAVANT_GENE=DOCK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK7" target="_blank">DOCK7</a>;SAVANT_INFO=-/233.4kb/49/6.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.38+32G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK7+c.38+32G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63153866">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1839,165,0:127	1|0:35,38:73:99:976,0,885:127	1|0:15,12:27:99:388,0,366:127
1	63789088	.	C	T	3496.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs202186939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202186939" target="_blank">rs202186939</a>;ExAC.Info.AC=105;ExAC.Info.AN=124210;ExAC.Info.AF=8.453e-04;ExAC.Info.AC_Het=89;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP4-792G4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-792G42" target="_blank">RP4-792G42</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro120Leu/c.359C>T;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=FOXD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-792G42" target="_blank">RP4-792G42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371116;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371116;SAVANT_GENE=FOXD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXD3" target="_blank">FOXD3</a>;SAVANT_INFO=+/2.1kb/1/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.359C>T_p.Pro120Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOXD3+c.359C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63789088">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,26:62:99:668,0,1094:127	0|0:50,0:50:99:0,150,1977:127	1|0:27,21:48:99:553,0,840:127
1	63872871	.	A	G	4158.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=402;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_Ic|_603147_(3);dbSNP139.ID=rs6588028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6588028" target="_blank">rs6588028</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.494+74A>G;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=ALG6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALG6" target="_blank">ALG6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263440;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371108;SAVANT_GENE=ALG6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALG6" target="_blank">ALG6</a>;SAVANT_INFO=+/71.0kb/15/3.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.494+74A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALG6+c.494+74A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63872871">View</a>	GT:AD:DP:GQ:PL:TP	0|0:139,0:139:99:0,418,4765:127	0|1:69,68:137:99:2098,0,2131:127	0|0:126,0:126:99:0,379,4329:127
1	63881552	.	C	T	10948.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=592;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_Ic|_603147_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4630153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4630153" target="_blank">rs4630153</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Congenital_disorder_of_glycosylation_1c|_mild;hgmd_2014.2.OMIM_ID=604566;hgmd_2014.2.PubMed=10914684;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10914684" target="_blank">10914684</a>;ExAC.Info.AC=94832;ExAC.Info.AN=126620;ExAC.Info.AF=0.749;ExAC.Info.AC_Het=22455;ExAC.Info.AC_Hom=35770;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000081560;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCt/tTt;snpeff.Amino_Acid_Change=p.Ser306Phe/c.917C>T;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=ALG6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALG6" target="_blank">ALG6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263440;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371108;SAVANT_GENE=ALG6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALG6" target="_blank">ALG6</a>;SAVANT_INFO=+/71.0kb/15/3.4kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.911C>T_p.Ser304Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALG6+c.911C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63881552">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081560" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:200,0:200:99:0,600,7008:127	0|1:97,96:193:99:2634,0,2979:127	0|1:97,102:199:99:2860,0,2939:127
1	63912563	.	ACAATT	A	1069.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3838450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3838450" target="_blank">rs3838450</a>;ExAC.Info.AC=46450;ExAC.Info.AN=126624;ExAC.Info.AF=0.367;ExAC.Info.AC_Het=28343;ExAC.Info.AC_Hom=8599;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.602-41_602-37delAATTG;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371092;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371092;SAVANT_GENE=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;SAVANT_INFO=-/82.4kb/10/1.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.602-41_602-37del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGB3BP+c.602-41_602-37del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63912563">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,2785:92	0|1:24,15:39:99:558,0,1462:92	0|0:31,0:31:93:0,93,1998:92
1	63915343	.	A	G	1094.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3790867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3790867" target="_blank">rs3790867</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.602-2816T>C;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371092;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371092;SAVANT_GENE=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;SAVANT_INFO=-/82.4kb/10/1.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.602-2816T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGB3BP+c.602-2816T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63915343">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,983:87	0|0:57,0:57:99:0,171,1904:87	0|1:8,18:26:99:566,0,225:87
1	63920515	.	C	G	1861.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17319708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17319708" target="_blank">rs17319708</a>;ExAC.Info.AC=19438;ExAC.Info.AN=125568;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=11238;ExAC.Info.AC_Hom=1545;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.450+46G>C;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371092;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451C>G;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371092;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451C>G;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371092;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451C>G;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371092;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371092;SAVANT_GENE=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;SAVANT_INFO=-/82.4kb/10/1.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.450+46G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGB3BP+c.450+46G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63920515">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,14:29:99:434,0,474:110	1|0:13,12:25:99:394,0,427:110	0|0:37,0:37:99:0,111,1394:110
1	63975830	.	T	C	598.84	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=9;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6588047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6588047" target="_blank">rs6588047</a>;ExAC.Info.AC=12904;ExAC.Info.AN=13028;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=43;ExAC.Info.AC_Hom=5198;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg10Gly/c.28A>G;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371092;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371092;SAVANT_GENE=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;SAVANT_INFO=-/82.4kb/10/1.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.28A>G_p.Arg10Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGB3BP+c.28A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63975830">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:12:163,12,0:4	1|1:0,4:4:12:99,12,0:4	1|1:0,1:1:3:42,3,0:4
1	63975859	.	C	CA	301.85	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=9;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs67405755;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67405755" target="_blank">rs67405755</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6-7_6-8insT;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371092;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6_7insT;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371092;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371092;SAVANT_GENE=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;SAVANT_INFO=-/82.4kb/10/1.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.6-8dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGB3BP+c.6-8dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63975859">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,6:6:18:170,18,0:12	1|0:1,1:2:22:22,0,22:12	1|0:1,0:1:2:0,3,27:12
1	63991267	.	T	C	1882.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs217478;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=217478" target="_blank">rs217478</a>;ExAC.Info.AC=47392;ExAC.Info.AN=126676;ExAC.Info.AF=0.374;ExAC.Info.AC_Het=28628;ExAC.Info.AC_Hom=9345;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp8Asp/c.24T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=EFCAB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371088;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371088;SAVANT_GENE=EFCAB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB7" target="_blank">EFCAB7</a>;SAVANT_INFO=+/49.3kb/14/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.24T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB7+c.24T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:63991267">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2302:127	0|1:37,34:71:99:960,0,1071:127	0|0:88,0:88:99:0,264,2919:127
1	64015217	.	G	A	2990.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=266;MQ=69.86;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs217485;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=217485" target="_blank">rs217485</a>;ExAC.Info.AC=11320;ExAC.Info.AN=20552;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=4089;ExAC.Info.AC_Hom=3030;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.947-2179G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=EFCAB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371088;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val42Ile/c.124G>A;snpeff.Amino_Acid_length=55;snpeff.Gene_Name=DLEU2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340052;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371088:ENST00000371086;SAVANT_GENE=EFCAB7:DLEU2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB7:DLEU2L" target="_blank">EFCAB7:DLEU2L</a>;SAVANT_INFO=+/49.3kb/14/2.3kb:+/1.3kb/2/1.2kb;SAVANT_LOC=In7/8:Ex2;SAVANT_HGVS=c.947-2179G>A:c.124G>A_p.Val42Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB7:DLEU2L+c.947-2179G>A:c.124G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:64015217">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2853:127	0|1:50,50:100:99:1514,0,1461:127	0|0:84,0:84:99:0,253,2976:127
1	64020987	.	A	T	3702.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72679089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72679089" target="_blank">rs72679089</a>;ExAC.Info.AC=2;ExAC.Info.AN=126664;ExAC.Info.AF=1.579e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ITGB3BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1057-42A>T;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=EFCAB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB3BP" target="_blank">ITGB3BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371088;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371088;SAVANT_GENE=EFCAB7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB7" target="_blank">EFCAB7</a>;SAVANT_INFO=+/49.3kb/14/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1057-42A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB7+c.1057-42A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:64020987">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,29:56:99:898,0,802:127	0|0:91,0:91:99:0,272,3053:127	1|0:34,30:64:99:872,0,983:127
1	64097432	.	C	T	21350.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=1059;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Glycogen_storage_disease_XIV|_612934_(3)|_Congenital_disorder_of_glycosylation|_type_It|_614921_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1126728;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1126728" target="_blank">rs1126728</a>;ExAC.Info.AC=30823;ExAC.Info.AN=126704;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=23014;ExAC.Info.AC_Hom=3901;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg239Cys/c.715C>T;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=PGM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGM1" target="_blank">PGM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371083;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371083;SAVANT_GENE=PGM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGM1" target="_blank">PGM1</a>;SAVANT_INFO=+/37.1kb/11/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.715C>T_p.Arg239Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGM1+c.715C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:64097432">View</a>	GT:AD:DP:GQ:PL:TP	0|0:308,0:308:99:0,925,10373:127	0|1:205,189:394:99:5424,0,5870:127	0|1:180,177:357:99:5271,0,5164:127
1	64100478	.	A	T	8824.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=392;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Glycogen_storage_disease_XIV|_612934_(3)|_Congenital_disorder_of_glycosylation|_type_It|_614921_(3);dbSNP139.ID=rs6588052;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6588052" target="_blank">rs6588052</a>;ExAC.Info.AC=52565;ExAC.Info.AN=126702;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=29443;ExAC.Info.AC_Hom=11517;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.737-22A>T;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=PGM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGM1" target="_blank">PGM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371083;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371083;SAVANT_GENE=PGM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGM1" target="_blank">PGM1</a>;SAVANT_INFO=+/37.1kb/11/2.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.737-22A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGM1+c.737-22A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:64100478">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,361,4171:127	0|1:70,77:147:99:2450,0,2103:127	0|1:62,63:125:99:1982,0,1813:127
1	64515379	.	C	T	12166.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1772626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1772626" target="_blank">rs1772626</a>;ExAC.Info.AC=106355;ExAC.Info.AN=126700;ExAC.Info.AF=0.839;ExAC.Info.AC_Het=16254;ExAC.Info.AC_Hom=45032;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.180C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.180C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.180C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.180C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.180C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.180C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.180C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.180C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.180C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.180C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu60Leu/c.180C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371079;SAVANT_GENE=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;SAVANT_INFO=+/407.5kb/9/5.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.180C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ROR1+c.180C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:64515379">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1601,144,0:127	1|1:0,59:59:99:2156,177,0:127	1|0:23,22:45:99:687,0,692:127
1	64608329	.	G	T	32727.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=416;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2762833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2762833" target="_blank">rs2762833</a>;ExAC.Info.AC=126702;ExAC.Info.AN=126702;ExAC.Info.AF=1.00;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=63276;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.89+28563C>A;snpeff.Gene_Name=RP11-24J23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424995;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kringle];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1170G>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcT;snpeff.Amino_Acid_Change=p.Ala390Ala/c.1170G>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371079;SAVANT_GENE=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;SAVANT_INFO=+/407.5kb/9/5.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1170G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ROR1+c.1170G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:64608329">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4363,399,0:127	1|1:0,176:176:99:5945,529,0:127	1|1:0,107:107:99:3600,321,0:127
1	64624842	.	A	G	21687.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs6668545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6668545" target="_blank">rs6668545</a>;ExAC.Info.AC=45522;ExAC.Info.AN=126702;ExAC.Info.AF=0.359;ExAC.Info.AC_Het=28740;ExAC.Info.AC_Hom=8387;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.89+12050T>C;snpeff.Gene_Name=RP11-24J23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424995;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1353A>G;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1353A>G;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val451Val/c.1353A>G;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-24J232" target="_blank">RP11-24J232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371079;SAVANT_GENE=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;SAVANT_INFO=+/407.5kb/9/5.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1353A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ROR1+c.1353A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:64624842">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,81:152:99:2265,0,2007:127	0|1:61,83:144:99:2427,0,1578:127	1|1:0,144:144:99:4934,433,0:127
1	64643277	.	C	T	14830.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=473;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7527017;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7527017" target="_blank">rs7527017</a>;ExAC.Info.AC=38722;ExAC.Info.AN=126704;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=25920;ExAC.Info.AC_Hom=6398;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1553C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr518Met/c.1553C>T;snpeff.Amino_Acid_length=937;snpeff.Gene_Name=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371079;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371079;SAVANT_GENE=ROR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ROR1" target="_blank">ROR1</a>;SAVANT_INFO=+/407.5kb/9/5.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1553C>T_p.Thr518Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ROR1+c.1553C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:64643277">View</a>	GT:AD:DP:GQ:PL:TP	0/1:64,85:149:99:2245,0,1814:127	0/1:97,85:182:99:2407,0,2797:127	0/1:74,68:142:99:1966,0,2099:127
1	64709891	.	A	G	4220.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=399;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10789152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10789152" target="_blank">rs10789152</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.677+2475A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=UBE2U;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2U" target="_blank">UBE2U</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371077;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000371076;SAVANT_GENE=UBE2U;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2U" target="_blank">UBE2U</a>;SAVANT_INFO=+/40.5kb/9/1.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*75A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBE2U+c.*75A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:64709891">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,331,3747:127	0|1:87,69:156:99:2129,0,2623:127	0|0:133,0:133:99:0,399,4575:127
1	64726384	.	C	T	1736.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11208393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11208393" target="_blank">rs11208393</a>;ExAC.Info.AC=357;ExAC.Info.AN=20134;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=296;ExAC.Info.AC_Hom=22;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=UBE2U;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2U" target="_blank">UBE2U</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2U" target="_blank">UBE2U</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBE2U+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:64726384">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,237,2578:127	0|0:56,0:56:99:0,168,2012:127	0|1:38,30:68:99:887,0,1145:127
1	65016349	.	A	T	36946.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=503;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2164571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2164571" target="_blank">rs2164571</a>;ExAC.Info.AC=117132;ExAC.Info.AN=125136;ExAC.Info.AF=0.936;ExAC.Info.AC_Het=7115;ExAC.Info.AC_Hom=54792;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.261+10A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>T;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290039;SAVANT_GENE=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;SAVANT_INFO=+/222.3kb/27/5.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.108+10A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACHD1+c.108+10A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65016349">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:4738,456,0:127	1|1:0,201:201:99:6592,604,0:127	1|1:0,150:150:99:4990,449,0:127
1	65045602	.	TA	T	5540.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5774708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5774708" target="_blank">rs5774708</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.74delA;snpeff.Gene_Name=MIR4794;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000582305;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.262-2236delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262delA;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4794" target="_blank">MIR4794</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000290039;SAVANT_GENE=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;SAVANT_INFO=+/222.3kb/27/5.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.109-2225delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACHD1+c.109-2225delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65045602">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:652,72,0:86	1|1:0,33:33:99:887,99,0:86	1|1:0,29:29:87:796,87,0:86
1	65068638	.	T	C	10779.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6665437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665437" target="_blank">rs6665437</a>;ExAC.Info.AC=124576;ExAC.Info.AN=125076;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=461;ExAC.Info.AC_Hom=61591;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.517+43T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290039;SAVANT_GENE=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;SAVANT_INFO=+/222.3kb/27/5.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.364+43T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACHD1+c.364+43T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65068638">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1506,132,0:127	1|1:0,53:53:99:1716,159,0:127	1|1:0,46:46:99:1644,138,0:127
1	65095054	.	G	A	3178.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17383227;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17383227" target="_blank">rs17383227</a>;ExAC.Info.AC=8629;ExAC.Info.AN=125202;ExAC.Info.AF=0.069;ExAC.Info.AC_Het=7824;ExAC.Info.AC_Hom=400;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu178Leu/c.534G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290039;SAVANT_GENE=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;SAVANT_INFO=+/222.3kb/27/5.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.381G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACHD1+c.381G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65095054">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,315,3712:127	0|0:124,0:124:99:0,372,4536:127	0|1:50,58:108:99:1608,0,1409:127
1	65098309	.	G	A	1368.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=58;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61731122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61731122" target="_blank">rs61731122</a>;ExAC.Info.AC=2467;ExAC.Info.AN=125626;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=2367;ExAC.Info.AC_Hom=48;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro224Pro/c.672G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290039;SAVANT_GENE=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;SAVANT_INFO=+/222.3kb/27/5.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.519G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACHD1+c.519G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65098309">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,12:27:99:325,0,424:47	0|0:23,0:23:69:0,69,795:47	1|0:2,6:8:48:176,0,48:47
1	65099699	.	TG	T	567.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs373496679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=373496679" target="_blank">rs373496679</a>;ExAC.Info.AC=7696;ExAC.Info.AN=125820;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=6412;ExAC.Info.AC_Hom=53;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.790-27delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790delG;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000290039;SAVANT_GENE=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;SAVANT_INFO=+/222.3kb/27/5.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.637-26delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACHD1+c.637-26delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65099699">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1074:89	0|0:32,0:32:96:0,96,1149:89	0|1:12,13:25:99:307,0,367:89
1	65113568	.	T	C	22844.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6588100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6588100" target="_blank">rs6588100</a>;ExAC.Info.AC=126577;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=125;ExAC.Info.AC_Hom=63200;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met414Thr/c.1241T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290039;SAVANT_GENE=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;SAVANT_INFO=+/222.3kb/27/5.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1088T>C_p.Met363Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACHD1+c.1088T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65113568">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2790,234,0:127	1|1:0,106:106:99:3742,318,0:127	1|1:0,96:96:99:3239,288,0:127
1	65141557	.	G	A	8066.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72673386;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72673386" target="_blank">rs72673386</a>;ExAC.Info.AC=173;ExAC.Info.AN=126694;ExAC.Info.AF=1.365e-03;ExAC.Info.AC_Het=172;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2889-23G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2889G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290039;SAVANT_GENE=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;SAVANT_INFO=+/222.3kb/27/5.3kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2736-23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACHD1+c.2736-23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65141557">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,47:112:99:1146,0,1755:127	1|0:64,71:135:99:1822,0,1903:127	0|0:106,0:106:99:0,318,3750:127
1	65157120	.	C	G	5241.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72673394;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72673394" target="_blank">rs72673394</a>;ExAC.Info.AC=259;ExAC.Info.AN=126704;ExAC.Info.AF=2.044e-03;ExAC.Info.AC_Het=258;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3701C>G;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3701C>G;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3701C>G;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3701C>G;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cGc;snpeff.Amino_Acid_Change=p.Pro1234Arg/c.3701C>G;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371073;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290039;SAVANT_GENE=CACHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACHD1" target="_blank">CACHD1</a>;SAVANT_INFO=+/222.3kb/27/5.3kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3548C>G_p.Pro1183Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACHD1+c.3548C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65157120">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,38:78:99:986,0,1136:127	0|0:95,0:95:99:0,286,3465:127	1|0:41,39:80:99:1140,0,1094:127
1	65270609	.	G	A	2652.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72675429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72675429" target="_blank">rs72675429</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1297-65G>A;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=RAVER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAVER2" target="_blank">RAVER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294428;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371072;SAVANT_GENE=RAVER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAVER2" target="_blank">RAVER2</a>;SAVANT_INFO=+/88.1kb/12/4.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1258-65G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAVER2+c.1258-65G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65270609">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2049:127	0|1:46,42:88:99:1345,0,1322:127	0|0:83,0:83:99:0,249,2788:127
1	65311214	.	G	C	4371.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3737139;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737139" target="_blank">rs3737139</a>;ExAC.Info.AC=7646;ExAC.Info.AN=125430;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=6911;ExAC.Info.AC_Hom=366;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2097G>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2097G>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2097G>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2097G>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2097G>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2097G>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2097G>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2097G>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcG;snpeff.Amino_Acid_Change=p.Ala699Ala/c.2097C>G;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342505;SAVANT_GENE=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;SAVANT_INFO=-/133.3kb/25/5.0kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2097C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAK1+c.2097C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65311214">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,31:71:99:787,0,1146:127	0|0:58,0:58:99:0,174,1931:127	1|0:29,24:53:99:746,0,814:127
1	65321250	.	G	A	5013.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2230586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230586" target="_blank">rs2230586</a>;ExAC.Info.AC=7645;ExAC.Info.AN=126032;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=6903;ExAC.Info.AC_Hom=351;snpeff.Effect=sequence_feature[domain:SH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1590G>A;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1590G>A;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1590G>A;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile530Ile/c.1590C>T;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342505;SAVANT_GENE=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;SAVANT_INFO=-/133.3kb/25/5.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1590C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAK1+c.1590C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65321250">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,25:57:99:641,0,916:127	0|0:108,0:108:99:0,324,3776:127	1|0:26,40:66:99:1158,0,768:127
1	65321388	.	G	A	6725.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs310229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=310229" target="_blank">rs310229</a>;ExAC.Info.AC=43812;ExAC.Info.AN=125258;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=26939;ExAC.Info.AC_Hom=8214;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1459-7C>T;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1459G>A;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1459G>A;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1459G>A;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1459C>T;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342505;SAVANT_GENE=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;SAVANT_INFO=-/133.3kb/25/5.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1459-7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAK1+c.1459-7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65321388">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,41:77:99:1155,0,979:127	0|0:127,0:127:99:0,381,4430:127	1|0:32,51:83:99:1566,0,866:127
1	65321419	.	G	A	5964.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11579283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11579283" target="_blank">rs11579283</a>;ExAC.Info.AC=7463;ExAC.Info.AN=125272;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=6444;ExAC.Info.AC_Hom=297;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1459-38C>T;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1459G>A;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1459G>A;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1459G>A;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342505;SAVANT_GENE=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;SAVANT_INFO=-/133.3kb/25/5.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1459-38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAK1+c.1459-38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65321419">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,40:77:99:1035,0,1106:127	0|0:123,0:123:99:0,370,4212:127	1|0:33,46:79:99:1330,0,855:127
1	65325970	.	C	T	2090.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs310224;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=310224" target="_blank">rs310224</a>;ExAC.Info.AC=43699;ExAC.Info.AN=125490;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=25927;ExAC.Info.AC_Hom=8126;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1177-25G>A;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177C>T;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177C>T;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177C>T;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177C>T;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177C>T;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177C>T;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177C>T;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342505;SAVANT_GENE=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;SAVANT_INFO=-/133.3kb/25/5.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1177-25G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAK1+c.1177-25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65325970">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,18:31:99:520,0,351:78	0|0:26,0:26:78:0,78,916:78	1|0:23,12:35:99:287,0,613:78
1	65335095	.	T	C	4734.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11585932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11585932" target="_blank">rs11585932</a>;ExAC.Info.AC=7435;ExAC.Info.AN=125436;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=6725;ExAC.Info.AC_Hom=353;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly182Gly/c.546A>G;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342505;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342505;SAVANT_GENE=JAK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAK1" target="_blank">JAK1</a>;SAVANT_INFO=-/133.3kb/25/5.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.546A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAK1+c.546A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65335095">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,18:39:99:610,0,577:127	0|0:62,0:62:99:0,186,2226:127	1|0:36,38:74:99:1085,0,1009:127
1	65523343	.	G	A	3570.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11583739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11583739" target="_blank">rs11583739</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11583739" target="_blank">rs11583739</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65523343">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,26:46:99:741,0,536:127	0|0:72,0:72:99:0,216,2490:127	1|0:29,23:52:99:726,0,827:127
1	65614260	.	C	T	1030.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs115225200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115225200" target="_blank">rs115225200</a>;ExAC.Info.AC=14057;ExAC.Info.AN=121772;ExAC.Info.AF=0.115;ExAC.Info.AC_Het=7350;ExAC.Info.AC_Hom=1030;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.145+25C>T;snpeff.Amino_Acid_length=223;snpeff.Gene_Name=AK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK4" target="_blank">AK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545314;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395334;SAVANT_GENE=AK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK4" target="_blank">AK4</a>;SAVANT_INFO=+/84.3kb/6/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.145+25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK4+c.145+25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65614260">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1188:101	0|0:35,0:35:99:0,105,1218:101	0|1:10,20:30:99:534,0,241:101
1	65775330	.	AT	A	94.23	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Parkinson_disease_19|_juvenile-onset|_615528_(3);dbSNP139.ID=rs373500242;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=373500242" target="_blank">rs373500242</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=98;snpeff.Amino_Acid_Change=c.-98delT;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000395325;SAVANT_GENE=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;SAVANT_INFO=+/151.1kb/19/5.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.22+44730delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC6+c.22+44730delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65775330">View</a>	GT:AD:DP:GQ:PL:TP	1|0:96,16:112:62:62,0,2125:44	0|0:136,12:148:99:0,165,3000:44	1|0:79,10:89:0:0,17,1709:44
1	65830297	.	GT	G	2171.98	PASS	InheritancePattern=Normal;AC=2;AF=0.500;AN=4;DP=63;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=./0;OMIM_phenotypes.name=Parkinson_disease_19|_juvenile-onset|_615528_(3);dbSNP139.ID=rs58549467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58549467" target="_blank">rs58549467</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.194-20delT;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000395325;SAVANT_GENE=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;SAVANT_INFO=+/151.1kb/19/5.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.23-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC6+c.23-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65830297">View</a>	GT:AD:DP:GQ:PL	0/1:12,10:22:99:207,0,218	./0:8,0:23:99:568,584,739	./1:1,10:18:99:378,208,210
1	65830297	.	GT	TT	2171.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.500;AN=4;DP=63;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=0/1;OMIM_phenotypes.name=Parkinson_disease_19|_juvenile-onset|_615528_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.194-21G>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395325;SAVANT_GENE=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;SAVANT_INFO=+/151.1kb/19/5.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.23-21G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC6+c.23-21G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65830297">View</a>	GT:AD:DP:GQ:PL	./0:12,0:22:99:207,272,1249	0/1:8,15:23:99:568,0,363	./1:1,7:18:99:378,180,619
1	65830299	.	T	G	312.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Parkinson_disease_19|_juvenile-onset|_615528_(3);dbSNP139.ID=rs2296479;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296479" target="_blank">rs2296479</a>;ExAC.Info.AC=36499;ExAC.Info.AN=119228;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=23523;ExAC.Info.AC_Hom=1023;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.194-19T>G;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395325;SAVANT_GENE=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;SAVANT_INFO=+/151.1kb/19/5.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.23-19T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC6+c.23-19T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65830299">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,1416:40	0|1:11,9:20:99:175,0,457:40	0|0:21,1:22:40:0,40,815:40
1	65845042	.	A	T	2866.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Parkinson_disease_19|_juvenile-onset|_615528_(3);dbSNP139.ID=rs2296480;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296480" target="_blank">rs2296480</a>;ExAC.Info.AC=26797;ExAC.Info.AN=126628;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=16398;ExAC.Info.AC_Hom=5053;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.544-43A>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544A>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544A>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544A>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544A>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544A>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544A>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395325;SAVANT_GENE=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;SAVANT_INFO=+/151.1kb/19/5.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.373-43A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC6+c.373-43A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65845042">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,294,3116:127	0|1:74,56:130:99:1452,0,2101:127	0|0:98,0:98:99:0,294,3255:127
1	65845076	.	C	T	2810.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Parkinson_disease_19|_juvenile-onset|_615528_(3);dbSNP139.ID=rs2296481;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296481" target="_blank">rs2296481</a>;ExAC.Info.AC=26931;ExAC.Info.AN=126688;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=16596;ExAC.Info.AC_Hom=5155;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.544-9C>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544C>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544C>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544C>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544C>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544C>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544C>T;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395325;SAVANT_GENE=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;SAVANT_INFO=+/151.1kb/19/5.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.373-9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC6+c.373-9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65845076">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,330,3758:127	0|1:75,55:130:99:1424,0,2233:127	0|0:117,0:117:99:0,352,4227:127
1	65849887	.	G	A	5844.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=565;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Parkinson_disease_19|_juvenile-onset|_615528_(3);dbSNP139.ID=rs61753391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61753391" target="_blank">rs61753391</a>;ExAC.Info.AC=2614;ExAC.Info.AN=126672;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2520;ExAC.Info.AC_Hom=41;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.678G>A;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.678G>A;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.678G>A;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.678G>A;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.678G>A;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.678G>A;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala226Ala/c.678G>A;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395325;SAVANT_GENE=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;SAVANT_INFO=+/151.1kb/19/5.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.507G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC6+c.507G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65849887">View</a>	GT:AD:DP:GQ:PL:TP	0|0:184,0:184:99:0,552,6179:127	0|0:178,0:178:99:0,534,5940:127	0|1:107,96:203:99:2941,0,2864:127
1	65858088	.	T	C	8430.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=513;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Parkinson_disease_19|_juvenile-onset|_615528_(3);dbSNP139.ID=rs6588144;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6588144" target="_blank">rs6588144</a>;ExAC.Info.AC=60655;ExAC.Info.AN=125950;ExAC.Info.AF=0.482;ExAC.Info.AC_Het=27915;ExAC.Info.AC_Hom=13414;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1469-26T>C;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395325;SAVANT_GENE=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;SAVANT_INFO=+/151.1kb/19/5.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1298-26T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC6+c.1298-26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65858088">View</a>	GT:AD:DP:GQ:PL:TP	0|0:174,0:174:99:0,522,5924:127	0|1:104,84:188:99:2381,0,3029:127	0|1:86,65:151:99:1854,0,2536:127
1	65858145	.	G	A	9194.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=629;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Parkinson_disease_19|_juvenile-onset|_615528_(3);dbSNP139.ID=rs4325172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4325172" target="_blank">rs4325172</a>;ExAC.Info.AC=57328;ExAC.Info.AN=126684;ExAC.Info.AF=0.453;ExAC.Info.AC_Het=29880;ExAC.Info.AC_Hom=13296;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu500Glu/c.1500G>A;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395325;SAVANT_GENE=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;SAVANT_INFO=+/151.1kb/19/5.7kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1329G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC6+c.1329G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65858145">View</a>	GT:AD:DP:GQ:PL:TP	0|0:236,0:236:99:0,709,7782:127	0|1:118,84:202:99:2405,0,3651:127	0|1:106,85:191:99:2212,0,3000:127
1	65860687	.	A	C	9877.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=542;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Parkinson_disease_19|_juvenile-onset|_615528_(3);dbSNP139.ID=rs4582839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4582839" target="_blank">rs4582839</a>;ExAC.Info.AC=81844;ExAC.Info.AN=126702;ExAC.Info.AF=0.646;ExAC.Info.AC_Het=27666;ExAC.Info.AC_Hom=27066;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010A>C;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010A>C;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010A>C;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010A>C;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010A>C;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro670Pro/c.2010A>C;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395325;SAVANT_GENE=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;SAVANT_INFO=+/151.1kb/19/5.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1839A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC6+c.1839A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65860687">View</a>	GT:AD:DP:GQ:PL:TP	0|0:180,0:180:99:0,541,5858:127	0|1:109,95:204:99:2855,0,3135:127	0|1:85,73:158:99:2104,0,2414:127
1	65867391	.	C	G	3776.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Parkinson_disease_19|_juvenile-onset|_615528_(3);dbSNP139.ID=rs4592284;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4592284" target="_blank">rs4592284</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2108-53C>G;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2108C>G;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2108C>G;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2108C>G;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2108C>G;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2108C>G;snpeff.Amino_Acid_length=970;snpeff.Gene_Name=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371069;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395325;SAVANT_GENE=DNAJC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC6" target="_blank">DNAJC6</a>;SAVANT_INFO=+/151.1kb/19/5.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1937-53C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC6+c.1937-53C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65867391">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2218:127	0|1:44,34:78:99:1030,0,1407:127	0|1:29,31:60:99:878,0,837:127
1	65886398	.	T	C	9349.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=95;MQ=69.85;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3);dbSNP139.ID=rs3790435;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3790435" target="_blank">rs3790435</a>;ExAC.Info.AC=53189;ExAC.Info.AN=117138;ExAC.Info.AF=0.454;ExAC.Info.AC_Het=16214;ExAC.Info.AC_Hom=8611;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=144851;snpeff.Amino_Acid_Change=c.-122T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.-10T>C;snpeff.Amino_Acid_length=131;snpeff.Gene_Name=LEPROT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371065:ENST00000349533;SAVANT_GENE=LEPROT:LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPROT:LEPR" target="_blank">LEPROT:LEPR</a>;SAVANT_INFO=+/15.4kb/4/4.6kb:+/220.9kb/20/8.2kb;SAVANT_LOC=5UTR:5UTR;SAVANT_HGVS=c.-10T>C:c.-144851T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPROT:LEPR+c.-10T>C:c.-144851T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65886398">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1303,105,0:77	1|1:0,26:26:78:990,78,0:77	1|1:0,34:34:99:1068,102,0:77
1	65886448	.	T	C	12355.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=115;MQ=69.89;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3);dbSNP139.ID=rs3790434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3790434" target="_blank">rs3790434</a>;ExAC.Info.AC=48457;ExAC.Info.AN=114694;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=13227;ExAC.Info.AC_Hom=6702;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.16+25T>C;snpeff.Amino_Acid_length=131;snpeff.Gene_Name=LEPROT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPROT" target="_blank">LEPROT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-97+25T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPROT" target="_blank">LEPROT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371065:ENST00000349533;SAVANT_GENE=LEPROT:LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPROT:LEPR" target="_blank">LEPROT:LEPR</a>;SAVANT_INFO=+/15.4kb/4/4.6kb:+/220.9kb/20/8.2kb;SAVANT_LOC=In1/2:5UTR;SAVANT_HGVS=c.16+25T>C:c.-144801T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPROT:LEPR+c.16+25T>C:c.-144801T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65886448">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1335,111,0:113	1|1:0,38:38:99:1379,114,0:113	1|1:0,40:40:99:1389,120,0:113
1	65887013	.	A	C	31414.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3);dbSNP139.ID=rs12145690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12145690" target="_blank">rs12145690</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.16+590A>C;snpeff.Amino_Acid_length=131;snpeff.Gene_Name=LEPROT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPROT" target="_blank">LEPROT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-97+590A>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPROT" target="_blank">LEPROT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371065:ENST00000349533;SAVANT_GENE=LEPROT:LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPROT:LEPR" target="_blank">LEPROT:LEPR</a>;SAVANT_INFO=+/15.4kb/4/4.6kb:+/220.9kb/20/8.2kb;SAVANT_LOC=In1/2:5UTR;SAVANT_HGVS=c.16+590A>C:c.-144236A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPROT:LEPR+c.16+590A>C:c.-144236A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:65887013">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:4048,328,0:127	1|1:0,144:144:99:5109,432,0:127	1|1:1,117:118:99:4276,317,0:127
1	66036441	.	A	G	7418.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=752;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|B|B|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1137100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1137100" target="_blank">rs1137100</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Increased_birth_weight|_association_with;hgmd_2014.2.OMIM_ID=601007;hgmd_2014.2.PubMed=18490929;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=18490929" target="_blank">18490929</a>;ExAC.Info.AC=36528;ExAC.Info.AN=126632;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=22404;ExAC.Info.AC_Hom=6920;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys109Arg/c.326A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000349533;SAVANT_GENE=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;SAVANT_INFO=+/220.9kb/20/8.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.326A>G_p.Lys109Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPR+c.326A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:66036441">View</a>	GT:AD:DP:GQ:PL:TP	0|0:250,0:250:99:0,751,8319:127	0|1:150,129:279:99:3728,0,4404:127	0|0:223,0:223:99:0,670,7877:127
1	66036501	.	G	T	30071.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=428;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3);dbSNP139.ID=rs2186248;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2186248" target="_blank">rs2186248</a>;ExAC.Info.AC=125585;ExAC.Info.AN=125600;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=10;ExAC.Info.AC_Hom=57414;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.370+16G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371G>T;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000349533;SAVANT_GENE=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;SAVANT_INFO=+/220.9kb/20/8.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.370+16G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPR+c.370+16G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:66036501">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,143:143:99:5085,430,0:127	1|1:0,158:158:99:5566,475,0:127	1|1:0,127:127:99:4629,382,0:127
1	66058513	.	A	G	41079.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=943;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1137101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1137101" target="_blank">rs1137101</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Higher_body_mass_index|_association_with;hgmd_2014.2.OMIM_ID=601007;hgmd_2014.2.PubMed=11354636;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11354636" target="_blank">11354636</a>;ExAC.Info.AC=64877;ExAC.Info.AN=126686;ExAC.Info.AF=0.512;ExAC.Info.AC_Het=29920;ExAC.Info.AC_Hom=17422;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln223Arg/c.668A>G;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000349533;SAVANT_GENE=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;SAVANT_INFO=+/220.9kb/20/8.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.668A>G_p.Gln223Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPR+c.668A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:66058513">View</a>	GT:AD:DP:GQ:PL:TP	1|0:151,141:292:99:3879,0,4285:127	0|1:156,153:309:99:4422,0,4577:127	1|1:0,342:342:99:11276,1027,0:127
1	66067109	.	T	C	20241.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=641;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3)|Obesity|_morbid|_due_to_leptin_receptor_deficiency|_614963_(3);dbSNP139.ID=rs1805134;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805134" target="_blank">rs1805134</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Weight_loss_due_to_dieting_in_overweight_women|_association;hgmd_2014.2.OMIM_ID=601007;hgmd_2014.2.PubMed=11380591;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11380591" target="_blank">11380591</a>;ExAC.Info.AC=28879;ExAC.Info.AN=126700;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=21334;ExAC.Info.AC_Hom=3754;snpeff.Effect=sequence_feature[domain:Ig-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser343Ser/c.1029T>C;snpeff.Amino_Acid_length=1165;snpeff.Gene_Name=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349533;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000349533;SAVANT_GENE=LEPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEPR" target="_blank">LEPR</a>;SAVANT_INFO=+/220.9kb/20/8.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1029T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEPR+c.1029T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:66067109">View</a>	GT:AD:DP:GQ:PL:TP	1|0:100,98:198:99:2617,0,2638:127	0|0:223,1:224:99:0,663,7425:127	1|1:0,219:219:99:7319,657,0:127
1	66732386	.	G	A	7539.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=435;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6588194;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6588194" target="_blank">rs6588194</a>;ExAC.Info.AC=47784;ExAC.Info.AN=118762;ExAC.Info.AF=0.402;ExAC.Info.AC_Het=23788;ExAC.Info.AC_Hom=9906;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.634+616G>A;snpeff.Amino_Acid_length=736;snpeff.Gene_Name=PDE4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4B" target="_blank">PDE4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329654;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329654;SAVANT_GENE=PDE4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4B" target="_blank">PDE4B</a>;SAVANT_INFO=+/581.8kb/17/4.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.634+616G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4B+c.634+616G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:66732386">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,70:142:99:1792,0,2073:127	0|0:164,0:164:99:0,492,5700:127	1|0:70,59:129:99:1482,0,1906:127
1	66829262	.	A	G	17101.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs783039;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=783039" target="_blank">rs783039</a>;ExAC.Info.AC=99936;ExAC.Info.AN=126646;ExAC.Info.AF=0.789;ExAC.Info.AC_Het=20036;ExAC.Info.AC_Hom=39614;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1284+8A>G;snpeff.Amino_Acid_length=736;snpeff.Gene_Name=PDE4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4B" target="_blank">PDE4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329654;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1285A>G;snpeff.Amino_Acid_length=736;snpeff.Gene_Name=PDE4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4B" target="_blank">PDE4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329654;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329654;SAVANT_GENE=PDE4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4B" target="_blank">PDE4B</a>;SAVANT_INFO=+/581.8kb/17/4.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1284+8A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4B+c.1284+8A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:66829262">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2765,214,0:127	1|0:40,43:83:99:1371,0,1166:127	1|1:0,82:82:99:3197,247,0:127
1	66831370	.	G	A	14312.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs783036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=783036" target="_blank">rs783036</a>;ExAC.Info.AC=61308;ExAC.Info.AN=126674;ExAC.Info.AF=0.484;ExAC.Info.AC_Het=29545;ExAC.Info.AC_Hom=15725;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu435Glu/c.1305G>A;snpeff.Amino_Acid_length=736;snpeff.Gene_Name=PDE4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4B" target="_blank">PDE4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329654;SAVANT_GENE=PDE4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4B" target="_blank">PDE4B</a>;SAVANT_INFO=+/581.8kb/17/4.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1305G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4B+c.1305G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:66831370">View</a>	GT:AD:DP:GQ:PL:TP	0/1:71,62:133:99:1703,0,2241:127	0/1:87,75:162:99:2069,0,2831:127	0/1:83,71:154:99:2004,0,2630:127
1	67098664	.	G	A	4223.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7531750;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7531750" target="_blank">rs7531750</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.75-89G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371037;SAVANT_GENE=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;SAVANT_INFO=+/210.8kb/25/4.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.75-89G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1+c.75-89G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67098664">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,28:62:99:708,0,941:127	0|0:60,0:60:99:0,180,2181:127	1|0:26,39:65:99:1155,0,708:127
1	67109410	.	T	TTGTG	13150.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=515;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs145373755;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145373755" target="_blank">rs145373755</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.471+9_471+10insTGTG;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371037;SAVANT_GENE=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;SAVANT_INFO=+/210.8kb/25/4.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.459+20_459+23dupGTGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1+c.459+20_459+23dupGTGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67109410">View</a>	GT:AD:DP:GQ:PL:TP	1|0:93,80:173:99:3032,0,3554:127	0|0:189,0:189:99:0,568,8266:127	1|0:78,75:153:99:2803,0,2994:127
1	67126114	.	A	G	16382.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=485;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12094526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12094526" target="_blank">rs12094526</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.472-82A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371037;SAVANT_GENE=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;SAVANT_INFO=+/210.8kb/25/4.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.460-82A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1+c.460-82A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67126114">View</a>	GT:AD:DP:GQ:PL:TP	0/1:74,88:162:99:2652,0,2025:127	0/1:98,65:163:99:1919,0,2937:127	0/1:75,85:160:99:2647,0,2104:127
1	67136560	.	G	T	1751.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs45467391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45467391" target="_blank">rs45467391</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.496-118G>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-211-3910C>A;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=AL139147.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000502413;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371037:ENST00000502413;SAVANT_GENE=SGIP1:AL139147.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1:AL1391471" target="_blank">SGIP1:AL1391471</a>;SAVANT_INFO=+/210.8kb/25/4.6kb:-/11.2kb/2/1.2kb;SAVANT_LOC=In9/10:5UTR;SAVANT_HGVS=c.484-118G>T:c.-4121C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1:AL1391471+c.484-118G>T:c.-4121C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67136560">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,13:29:99:330,0,524:110	1|0:18,15:33:99:453,0,578:110	0|0:37,0:37:99:0,111,1378:110
1	67136610	.	G	T	2877.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7540244;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7540244" target="_blank">rs7540244</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.496-68G>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-211-3960C>A;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=AL139147.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000502413;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371037:ENST00000502413;SAVANT_GENE=SGIP1:AL139147.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1:AL1391471" target="_blank">SGIP1:AL1391471</a>;SAVANT_INFO=+/210.8kb/25/4.6kb:-/11.2kb/2/1.2kb;SAVANT_LOC=In9/10:5UTR;SAVANT_HGVS=c.484-68G>T:c.-4171C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1:AL1391471+c.484-68G>T:c.-4171C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67136610">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,23:44:99:625,0,640:127	0|0:50,0:50:99:0,150,1883:127	1|0:27,24:51:99:646,0,785:127
1	67142675	.	T	C	6609.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11208943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11208943" target="_blank">rs11208943</a>;ExAC.Info.AC=18015;ExAC.Info.AN=126684;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=15274;ExAC.Info.AC_Hom=1342;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.659-12T>C;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10236;snpeff.Amino_Acid_Change=c.-228A>G;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=AL139147.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000502413;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371037:ENST00000502413;SAVANT_GENE=SGIP1:AL139147.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1:AL1391471" target="_blank">SGIP1:AL1391471</a>;SAVANT_INFO=+/210.8kb/25/4.6kb:-/11.2kb/2/1.2kb;SAVANT_LOC=In12/13:5UTR;SAVANT_HGVS=c.647-12T>C:c.-10236A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1:AL1391471+c.647-12T>C:c.-10236A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67142675">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,46:99:99:1318,0,1396:127	1|0:44,42:86:99:1324,0,1294:127	0|0:104,0:104:99:0,313,3535:127
1	67145322	.	C	A	32208.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=560;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10889644;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10889644" target="_blank">rs10889644</a>;ExAC.Info.AC=85617;ExAC.Info.AN=126704;ExAC.Info.AF=0.676;ExAC.Info.AC_Het=24993;ExAC.Info.AC_Hom=30293;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.752-39C>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphothreonine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.752C>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphothreonine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.752C>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371037;SAVANT_GENE=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;SAVANT_INFO=+/210.8kb/25/4.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.740-39C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1+c.740-39C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67145322">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,158:158:99:5350,475,0:127	1|0:121,109:230:99:2906,0,3627:127	1|1:0,172:172:99:5883,517,0:127
1	67147696	.	C	T	6632.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=290;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72669494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72669494" target="_blank">rs72669494</a>;ExAC.Info.AC=102;ExAC.Info.AN=126704;ExAC.Info.AF=8.050e-04;ExAC.Info.AC_Het=98;ExAC.Info.AC_Hom=2;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro324Leu/c.971C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371037;SAVANT_GENE=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;SAVANT_INFO=+/210.8kb/25/4.6kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.959C>T_p.Pro320Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1+c.959C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67147696">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,52:107:99:1341,0,1484:127	1|0:43,47:90:99:1387,0,1224:127	0|0:93,0:93:99:0,280,3263:127
1	67154730	.	CAA	C	7374.71	PASS	InheritancePattern=Normal;AC=2;AF=0.667;AN=3;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./0;dbSNP139.ID=rs139348429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139348429" target="_blank">rs139348429</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1409-100_1409-99delAA;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371037;SAVANT_GENE=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;SAVANT_INFO=+/210.8kb/25/4.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1316-85_1316-84delAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1+c.1316-85_1316-84delAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67154730">View</a>	GT:AD:DP:GQ:PL	./1:4,27:55:99:1098,429,683	./0:26,13:69:99:641,467,1531	./1:2,51:74:99:1617,427,513
1	67154730	.	CAA	CA	7374.71	PASS	InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1409-99delA;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371037;SAVANT_GENE=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;SAVANT_INFO=+/210.8kb/25/4.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1316-84delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1+c.1316-84delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67154730">View</a>	GT:AD:DP:GQ:PL	./1:4,24:55:99:1098,420,360	0/1:26,30:69:99:641,0,382	./1:2,21:74:99:1617,869,717
1	67155862	.	TCTC	T	26191.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=393;MQ=70.09;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs71660869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71660869" target="_blank">rs71660869</a>;ExAC.Info.AC=35742;ExAC.Info.AN=126700;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=25354;ExAC.Info.AC_Hom=5181;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1537-10_1537-8delCTC;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1537_1539delCTC;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371037;SAVANT_GENE=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;SAVANT_INFO=+/210.8kb/25/4.6kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1444-8_1444-6delCCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1+c.1444-8_1444-6delCCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67155862">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,100:101:99:4386,259,0:127	1|0:76,80:156:99:3093,0,2930:127	1|0:68,68:136:99:2628,0,2648:127
1	67160981	.	C	T	15696.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1325268;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1325268" target="_blank">rs1325268</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1664-136C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371037;SAVANT_GENE=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;SAVANT_INFO=+/210.8kb/25/4.6kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1571-136C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1+c.1571-136C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67160981">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3209,283,0:127	1|0:71,43:114:99:1227,0,2354:127	1|0:42,38:80:99:1112,0,1429:127
1	67194911	.	TTC	T	16006.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3078564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3078564" target="_blank">rs3078564</a>;ExAC.Info.AC=37494;ExAC.Info.AN=126664;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=26070;ExAC.Info.AC_Hom=5612;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1836-35_1836-34delTC;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1836_1837delTC;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1836_1837delTC;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1836_1837delTC;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1836_1837delTC;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1836_1837delTC;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1836_1837delTC;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1836_1837delTC;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000237247;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371037;SAVANT_GENE=SGIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGIP1" target="_blank">SGIP1</a>;SAVANT_INFO=+/210.8kb/25/4.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1743-28_1743-27delCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGIP1+c.1743-28_1743-27delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67194911">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2840,211,0:127	1|0:31,59:90:99:2100,0,947:127	1|0:45,44:89:99:1474,0,1567:127
1	67236097	.	A	T	16268.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=793;MQ=69.98;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1060575;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1060575" target="_blank">rs1060575</a>;ExAC.Info.AC=17319;ExAC.Info.AN=126702;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=14714;ExAC.Info.AC_Hom=1297;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaA/gaT;snpeff.Amino_Acid_Change=p.Glu49Asp/c.147A>T;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=TCTEX1D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTEX1D1" target="_blank">TCTEX1D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000282670;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000282670;SAVANT_GENE=TCTEX1D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTEX1D1" target="_blank">TCTEX1D1</a>;SAVANT_INFO=+/26.3kb/5/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.147A>T_p.Glu49Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCTEX1D1+c.147A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67236097">View</a>	GT:AD:DP:GQ:PL:TP	1|0:134,130:264:99:3321,0,3634:127	0|0:268,0:268:99:0,805,9040:127	1|0:119,142:261:99:4100,0,3213:127
1	67242087	.	G	A	11623.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=562;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs3816989;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3816989" target="_blank">rs3816989</a>;ExAC.Info.AC=17264;ExAC.Info.AN=126682;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=14644;ExAC.Info.AC_Hom=1285;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.336+1G>A;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=TCTEX1D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTEX1D1" target="_blank">TCTEX1D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000282670;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=TCTEX1D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTEX1D1" target="_blank">TCTEX1D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000282670;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;LOF=(TCTEX1D1|ENSG00000152760|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000282670;SAVANT_GENE=TCTEX1D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTEX1D1" target="_blank">TCTEX1D1</a>;SAVANT_INFO=+/26.3kb/5/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.336+1G>A;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=ESS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCTEX1D1+c.336+1G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67242087">View</a>	GT:AD:DP:GQ:PL:TP	1|0:99,76:175:99:2028,0,2698:127	0|0:232,0:232:99:0,697,8026:127	1|0:77,78:155:99:2234,0,2287:127
1	67243024	.	C	A	19365.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=587;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2133173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2133173" target="_blank">rs2133173</a>;ExAC.Info.AC=32977;ExAC.Info.AN=126704;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=23397;ExAC.Info.AC_Hom=4781;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Att;snpeff.Amino_Acid_Change=p.Leu143Ile/c.427C>A;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=TCTEX1D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTEX1D1" target="_blank">TCTEX1D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000282670;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000282670;SAVANT_GENE=TCTEX1D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTEX1D1" target="_blank">TCTEX1D1</a>;SAVANT_INFO=+/26.3kb/5/2.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.427C>A_p.Leu143Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCTEX1D1+c.427C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67243024">View</a>	GT:AD:DP:GQ:PL:TP	0/1:91,90:181:99:2323,0,2649:127	0/1:117,92:209:99:2575,0,3369:127	0/1:88,109:197:99:3076,0,2622:127
1	67266756	.	T	A	17672.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs549148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=549148" target="_blank">rs549148</a>;ExAC.Info.AC=111085;ExAC.Info.AN=126696;ExAC.Info.AF=0.877;ExAC.Info.AC_Het=13450;ExAC.Info.AC_Hom=48779;snpeff.Effect=sequence_feature[maturation_peptide:Connecting_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149T>A;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=INSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSL5" target="_blank">INSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304526;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Connecting_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149T>A;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=INSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSL5" target="_blank">INSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304526;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_B_and_A_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149T>A;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=INSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSL5" target="_blank">INSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304526;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_B_and_A_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149T>A;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=INSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSL5" target="_blank">INSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304526;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cTg;snpeff.Amino_Acid_Change=p.Gln50Leu/c.149A>T;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=INSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSL5" target="_blank">INSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304526;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304526;SAVANT_GENE=INSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSL5" target="_blank">INSL5</a>;SAVANT_INFO=-/3.5kb/2/0.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.149A>T_p.Gln50Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INSL5+c.149A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67266756">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2007,171,0:127	1|1:0,97:97:99:3374,291,0:127	1|1:0,65:65:99:2282,195,0:127
1	67288045	.	C	T	18107.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs482082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=482082" target="_blank">rs482082</a>;ExAC.Info.AC=62880;ExAC.Info.AN=126686;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=30562;ExAC.Info.AC_Hom=16067;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2495G>A;snpeff.Amino_Acid_length=848;snpeff.Gene_Name=WDR78;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR78" target="_blank">WDR78</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371026;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg832Gln/c.2495G>A;snpeff.Amino_Acid_length=848;snpeff.Gene_Name=WDR78;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR78" target="_blank">WDR78</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371026;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371026;SAVANT_GENE=WDR78;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR78" target="_blank">WDR78</a>;SAVANT_INFO=-/112.0kb/17/3.8kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2495G>A_p.Arg832Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR78+c.2495G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67288045">View</a>	GT:AD:DP:GQ:PL:TP	1|0:86,80:166:99:2357,0,2394:127	0|0:225,0:225:99:0,676,7951:127	1|1:0,162:162:99:5635,486,0:127
1	67390416	.	G	C	14814.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3008858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008858" target="_blank">rs3008858</a>;ExAC.Info.AC=99100;ExAC.Info.AN=126704;ExAC.Info.AF=0.782;ExAC.Info.AC_Het=20805;ExAC.Info.AC_Hom=39143;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tgC/tgG;snpeff.Amino_Acid_Change=p.Cys33Trp/c.99C>G;snpeff.Amino_Acid_length=848;snpeff.Gene_Name=WDR78;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR78" target="_blank">WDR78</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371026;SAVANT_GENE=WDR78;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR78" target="_blank">WDR78</a>;SAVANT_INFO=-/112.0kb/17/3.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.99C>G_p.Cys33Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR78+c.99C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67390416">View</a>	GT:AD:DP:GQ:PL:TP	0/1:75,62:137:99:1783,0,2170:127	0/1:100,71:171:99:2041,0,2987:127	0/1:64,66:130:99:1997,0,1845:127
1	67390468	.	C	G	10725.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1886686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1886686" target="_blank">rs1886686</a>;ExAC.Info.AC=99273;ExAC.Info.AN=126704;ExAC.Info.AF=0.784;ExAC.Info.AC_Het=20673;ExAC.Info.AC_Hom=39293;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gCa;snpeff.Amino_Acid_Change=p.Gly16Ala/c.47G>C;snpeff.Amino_Acid_length=848;snpeff.Gene_Name=WDR78;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR78" target="_blank">WDR78</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371026;SAVANT_GENE=WDR78;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR78" target="_blank">WDR78</a>;SAVANT_INFO=-/112.0kb/17/3.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.47G>C_p.Gly16Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR78+c.47G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67390468">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,48:89:99:1592,0,1267:127	0/1:61,43:104:99:1384,0,1998:127	0/1:46,44:90:99:1392,0,1407:127
1	67401623	.	ACT	A	2669.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs201957541;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201957541" target="_blank">rs201957541</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.169-4087_169-4086delCT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000401041;SAVANT_GENE=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;SAVANT_INFO=+/60.7kb/14/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.169-4087_169-4086delCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIER1+c.169-4087_169-4086delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67401623">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,256,4103:127	0|0:128,0:128:99:0,391,6371:127	0|1:48,36:84:99:1358,0,2052:127
1	67401629	.	A	G	2774.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs116230829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=116230829" target="_blank">rs116230829</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.169-4082A>G;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401041;SAVANT_GENE=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;SAVANT_INFO=+/60.7kb/14/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.169-4082A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIER1+c.169-4082A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67401629">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,253,4080:127	0|0:122,0:122:99:0,385,6324:127	0|1:47,37:84:99:1406,0,2054:127
1	67401630	.	A	C	2774.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs115331484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115331484" target="_blank">rs115331484</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.169-4081A>C;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401041;SAVANT_GENE=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;SAVANT_INFO=+/60.7kb/14/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.169-4081A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIER1+c.169-4081A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67401630">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,244,3945:127	0|0:124,0:124:99:0,379,6233:127	0|1:49,37:86:99:1406,0,2054:127
1	67425311	.	T	G	1900.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=73;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2985794;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2985794" target="_blank">rs2985794</a>;ExAC.Info.AC=97596;ExAC.Info.AN=124902;ExAC.Info.AF=0.781;ExAC.Info.AC_Het=20401;ExAC.Info.AC_Hom=38298;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.635-51T>G;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.635T>G;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.635T>G;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.635T>G;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.635T>G;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.635T>G;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401041;SAVANT_GENE=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;SAVANT_INFO=+/60.7kb/14/2.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.635-51T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIER1+c.635-51T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67425311">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,10:23:99:287,0,361:127	0/1:13,13:26:99:436,0,399:127	0/1:19,5:24:99:137,0,630:127
1	67425494	.	A	AT	454.24	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=28;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs35465377;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35465377" target="_blank">rs35465377</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.699+69_699+70insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HDAC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HDAC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HDAC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HDAC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HDAC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ELM2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ELM2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ELM2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ELM2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700_701insT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000401041;SAVANT_GENE=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;SAVANT_INFO=+/60.7kb/14/2.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.699+79dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIER1+c.699+79dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67425494">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,6:9:54:134,0,54:52	0/1:7,4:11:74:74,0,156:52	0/1:3,5:8:59:110,0,59:52
1	67438535	.	A	T	7889.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12131222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12131222" target="_blank">rs12131222</a>;ExAC.Info.AC=26893;ExAC.Info.AN=125068;ExAC.Info.AF=0.215;ExAC.Info.AC_Het=19386;ExAC.Info.AC_Hom=3010;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1007-45A>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SANT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1007A>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SANT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1007A>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SANT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1007A>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HDAC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1007A>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HDAC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1007A>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HDAC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1007A>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HDAC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1007A>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HDAC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1007A>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401041;SAVANT_GENE=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;SAVANT_INFO=+/60.7kb/14/2.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1007-45A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIER1+c.1007-45A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67438535">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,52:100:99:1477,0,1343:127	0/1:60,47:107:99:1315,0,1795:127	0/1:39,24:63:99:669,0,1150:127
1	67442275	.	C	T	8380.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11208979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11208979" target="_blank">rs11208979</a>;ExAC.Info.AC=27315;ExAC.Info.AN=125414;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=20528;ExAC.Info.AC_Hom=3362;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1102-3C>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SANT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102C>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SANT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102C>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SANT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102C>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102C>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401041;SAVANT_GENE=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;SAVANT_INFO=+/60.7kb/14/2.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1102-3C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIER1+c.1102-3C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67442275">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,49:96:99:1303,0,1409:127	0/1:59,50:109:99:1269,0,1669:127	0/1:37,41:78:99:1190,0,1117:127
1	67447450	.	A	G	13744.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=393;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12039172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12039172" target="_blank">rs12039172</a>;ExAC.Info.AC=26451;ExAC.Info.AN=124378;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=16835;ExAC.Info.AC_Hom=2906;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1230-12A>G;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401041;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000401041;SAVANT_GENE=MIER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIER1" target="_blank">MIER1</a>;SAVANT_INFO=+/60.7kb/14/2.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1230-12A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIER1+c.1230-12A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67447450">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,58:126:99:1862,0,1888:127	0/1:81,73:154:99:2429,0,2312:127	0/1:49,64:113:99:2141,0,1377:127
1	67474880	.	T	C	2294.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Schneckenbecken_dysplasia|_269250_(3);dbSNP139.ID=rs12061148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12061148" target="_blank">rs12061148</a>;ExAC.Info.AC=6490;ExAC.Info.AN=79440;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=2119;ExAC.Info.AC_Hom=338;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.877-30A>G;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235345;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877T>C;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235345;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877T>C;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235345;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235345;SAVANT_GENE=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;SAVANT_INFO=-/54.8kb/12/6.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.877-30A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35D1+c.877-30A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67474880">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,337,3672:127	0|0:141,0:141:99:0,424,4896:127	0|1:45,34:79:99:1166,0,1482:127
1	67512903	.	G	T	5625.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Schneckenbecken_dysplasia|_269250_(3);dbSNP139.ID=rs1024229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1024229" target="_blank">rs1024229</a>;ExAC.Info.AC=84887;ExAC.Info.AN=126636;ExAC.Info.AF=0.670;ExAC.Info.AC_Het=25773;ExAC.Info.AC_Hom=26714;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.636+45C>A;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235345;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235345;SAVANT_GENE=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;SAVANT_INFO=-/54.8kb/12/6.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.636+45C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35D1+c.636+45C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67512903">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,35:70:99:1005,0,1127:127	0/1:48,34:82:99:1024,0,1574:127	0/1:29,21:50:99:589,0,958:127
1	67512920	.	A	C	7146.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Schneckenbecken_dysplasia|_269250_(3);dbSNP139.ID=rs1024230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1024230" target="_blank">rs1024230</a>;ExAC.Info.AC=85223;ExAC.Info.AN=126654;ExAC.Info.AF=0.673;ExAC.Info.AC_Het=26788;ExAC.Info.AC_Hom=28136;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.636+28T>G;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235345;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235345;SAVANT_GENE=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;SAVANT_INFO=-/54.8kb/12/6.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.636+28T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35D1+c.636+28T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67512920">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,41:82:99:1220,0,1183:127	0/1:63,41:104:99:1207,0,1877:127	0/1:35,30:65:99:914,0,1079:127
1	67516191	.	GA	G	2417.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Schneckenbecken_dysplasia|_269250_(3);dbSNP139.ID=rs5774854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5774854" target="_blank">rs5774854</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.393-5delT;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235345;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.393delT;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235345;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000235345;SAVANT_GENE=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;SAVANT_INFO=-/54.8kb/12/6.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.393-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35D1+c.393-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67516191">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,4:111:99:0,221,2915:127	0|0:145,1:146:99:0,409,4039:127	0|1:63,57:120:99:1232,0,1416:127
1	67518420	.	T	A	2518.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Schneckenbecken_dysplasia|_269250_(3);dbSNP139.ID=rs77816884;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77816884" target="_blank">rs77816884</a>;ExAC.Info.AC=4959;ExAC.Info.AN=126704;ExAC.Info.AF=0.039;ExAC.Info.AC_Het=4677;ExAC.Info.AC_Hom=139;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.324+34A>T;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235345;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235345;SAVANT_GENE=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;SAVANT_INFO=-/54.8kb/12/6.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.324+34A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35D1+c.324+34A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67518420">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,1:98:99:0,260,3282:127	0|0:111,0:111:99:0,334,3868:127	0|1:46,44:90:99:1278,0,1414:127
1	67518534	.	C	T	5904.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=673;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Schneckenbecken_dysplasia|_269250_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10157422;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10157422" target="_blank">rs10157422</a>;ExAC.Info.AC=9354;ExAC.Info.AN=126704;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=8180;ExAC.Info.AC_Hom=589;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.244C>T;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235345;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.244C>T;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235345;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala82Thr/c.244G>A;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235345;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235345;SAVANT_GENE=SLC35D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35D1" target="_blank">SLC35D1</a>;SAVANT_INFO=-/54.8kb/12/6.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.244G>A_p.Ala82Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35D1+c.244G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67518534">View</a>	GT:AD:DP:GQ:PL:TP	0|0:197,1:198:99:0,558,6955:127	0|0:253,0:253:99:0,760,8849:127	0|1:109,113:222:99:2971,0,3198:127
1	67558739	.	C	T	7799.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs6588237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6588237" target="_blank">rs6588237</a>;ExAC.Info.AC=112091;ExAC.Info.AN=126646;ExAC.Info.AF=0.885;ExAC.Info.AC_Het=12262;ExAC.Info.AC_Hom=49589;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr384Thr/c.1152G>A;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544837;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371007;SAVANT_GENE=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;SAVANT_INFO=-/36.4kb/7/2.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1152G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf141+c.1152G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67558739">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,23:47:99:690,0,794:127	1|1:0,72:72:99:2547,217,0:127	0|1:37,20:57:99:554,0,1196:127
1	67560897	.	A	G	5234.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10889653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10889653" target="_blank">rs10889653</a>;ExAC.Info.AC=112057;ExAC.Info.AN=126422;ExAC.Info.AF=0.886;ExAC.Info.AC_Het=11649;ExAC.Info.AC_Hom=47317;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.603+21T>C;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544837;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371007;SAVANT_GENE=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;SAVANT_INFO=-/36.4kb/7/2.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.603+21T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf141+c.603+21T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67560897">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,14:41:99:399,0,859:59	1|1:1,34:35:59:1187,59,0:59	0|1:38,26:64:99:766,0,1288:59
1	67560956	.	C	T	11001.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11208997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11208997" target="_blank">rs11208997</a>;ExAC.Info.AC=112735;ExAC.Info.AN=126654;ExAC.Info.AF=0.890;ExAC.Info.AC_Het=11763;ExAC.Info.AC_Hom=50272;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val189Ile/c.565G>A;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544837;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371007;SAVANT_GENE=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;SAVANT_INFO=-/36.4kb/7/2.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.565G>A_p.Val189Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf141+c.565G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67560956">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,34:81:99:870,0,1372:127	1|1:1,93:94:99:3033,240,0:127	0|1:59,44:103:99:1271,0,1703:127
1	67577367	.	A	T	12142.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs6588240;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6588240" target="_blank">rs6588240</a>;ExAC.Info.AC=16169;ExAC.Info.AN=20244;ExAC.Info.AF=0.799;ExAC.Info.AC_Het=1940;ExAC.Info.AC_Hom=4893;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346+3668T>A;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544837;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371007;SAVANT_GENE=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;SAVANT_INFO=-/36.4kb/7/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.346+3668T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf141+c.346+3668T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67577367">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,38:94:99:1007,0,1472:127	1|1:0,106:106:99:3578,319,0:127	0|1:68,47:115:99:1169,0,1918:127
1	67579386	.	A	G	8124.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2144656;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2144656" target="_blank">rs2144656</a>;ExAC.Info.AC=12341;ExAC.Info.AN=13856;ExAC.Info.AF=0.891;ExAC.Info.AC_Het=676;ExAC.Info.AC_Hom=5020;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346+1649T>C;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544837;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371007;SAVANT_GENE=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;SAVANT_INFO=-/36.4kb/7/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.346+1649T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf141+c.346+1649T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67579386">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,19:43:99:591,0,644:127	1|1:0,57:57:99:2043,171,0:127	0|1:34,29:63:99:850,0,998:127
1	67633812	.	G	T	24012.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=439;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1884444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1884444" target="_blank">rs1884444</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Gastric_cancer|_decreased_risk|_association_with;hgmd_2014.2.OMIM_ID=607562;hgmd_2014.2.PubMed=20607725;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20607725" target="_blank">20607725</a>;ExAC.Info.AC=66953;ExAC.Info.AN=126704;ExAC.Info.AF=0.528;ExAC.Info.AC_Het=30790;ExAC.Info.AC_Hom=18068;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9G>T;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caT;snpeff.Amino_Acid_Change=p.Gln3His/c.9G>T;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347310;SAVANT_GENE=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL23R" target="_blank">IL23R</a>;SAVANT_INFO=+/93.6kb/11/2.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.9G>T_p.Gln3His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL23R+c.9G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67633812">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,128:128:99:4347,385,0:127	1|0:102,72:174:99:1822,0,2867:127	1|1:0,137:137:99:4696,412,0:127
1	67672765	.	G	A	2692.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7539625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7539625" target="_blank">rs7539625</a>;ExAC.Info.AC=41782;ExAC.Info.AN=126700;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=26144;ExAC.Info.AC_Hom=7749;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.798+27G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347310;SAVANT_GENE=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL23R" target="_blank">IL23R</a>;SAVANT_INFO=+/93.6kb/11/2.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.798+27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL23R+c.798+27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67672765">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,313,3729:127	0|0:132,0:132:99:0,396,4854:127	0|1:58,47:105:99:1365,0,1828:127
1	67685387	.	T	C	46471.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=653;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7530511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7530511" target="_blank">rs7530511</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Psoriasis|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=607562;hgmd_2014.2.PubMed=17236132;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17236132" target="_blank">17236132</a>;ExAC.Info.AC=111164;ExAC.Info.AN=126704;ExAC.Info.AF=0.877;ExAC.Info.AC_Het=13292;ExAC.Info.AC_Hom=48929;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.929T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.929T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.929T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.929T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.929T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.929T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.929T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.929T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.929T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.929T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu310Pro/c.929T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347310;SAVANT_GENE=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL23R" target="_blank">IL23R</a>;SAVANT_INFO=+/93.6kb/11/2.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.929T>C_p.Leu310Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL23R+c.929T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67685387">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,197:197:99:6526,592,0:127	1|1:1,251:252:99:8440,747,0:127	1|1:0,204:204:99:7000,613,0:127
1	67685443	.	G	A	10118.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7518660;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7518660" target="_blank">rs7518660</a>;ExAC.Info.AC=54627;ExAC.Info.AN=126672;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=29893;ExAC.Info.AC_Hom=12242;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.955+30G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.956G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.956G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.956G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.956G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.956G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.956G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.956G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.956G>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf141" target="_blank">C1orf141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347310;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347310;SAVANT_GENE=IL23R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL23R" target="_blank">IL23R</a>;SAVANT_INFO=+/93.6kb/11/2.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.955+30G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL23R+c.955+30G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67685443">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,26:67:99:797,0,1401:127	1|1:1,97:98:99:3736,267,0:127	0|0:67,0:67:99:0,202,2575:127
1	67795319	.	T	C	64254.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=854;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1495963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1495963" target="_blank">rs1495963</a>;ExAC.Info.AC=118115;ExAC.Info.AN=126704;ExAC.Info.AF=0.932;ExAC.Info.AC_Het=7204;ExAC.Info.AC_Hom=55452;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser238Ser/c.714T>C;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262345;SAVANT_GENE=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;SAVANT_INFO=+/89.5kb/16/4.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.714T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL12RB2+c.714T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67795319">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,247:247:99:8302,742,0:127	1|1:0,352:352:99:11966,1058,0:127	1|1:0,255:255:99:8931,769,0:127
1	67852335	.	G	A	7116.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=787;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2228420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228420" target="_blank">rs2228420</a>;ExAC.Info.AC=67090;ExAC.Info.AN=126704;ExAC.Info.AF=0.530;ExAC.Info.AC_Het=29423;ExAC.Info.AC_Hom=18831;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1929G>A;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr643Thr/c.1929G>A;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262345;SAVANT_GENE=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;SAVANT_INFO=+/89.5kb/16/4.0kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1929G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL12RB2+c.1929G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67852335">View</a>	GT:AD:DP:GQ:PL:TP	0|0:281,0:281:99:0,844,9518:127	0|0:258,0:258:99:0,774,8821:127	0|1:125,123:248:99:3577,0,3542:127
1	67861520	.	C	A	2400.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2229546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229546" target="_blank">rs2229546</a>;ExAC.Info.AC=79982;ExAC.Info.AN=126686;ExAC.Info.AF=0.631;ExAC.Info.AC_Het=28251;ExAC.Info.AC_Hom=25821;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2337C>A;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2337C>A;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2337C>A;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccA;snpeff.Amino_Acid_Change=p.Pro779Pro/c.2337C>A;snpeff.Amino_Acid_length=862;snpeff.Gene_Name=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262345;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262345;SAVANT_GENE=IL12RB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL12RB2" target="_blank">IL12RB2</a>;SAVANT_INFO=+/89.5kb/16/4.0kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2337C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL12RB2+c.2337C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:67861520">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2011:127	0|0:92,0:92:99:0,277,3311:127	0|1:41,39:80:99:1219,0,1140:127
1	68173264	.	C	T	17954.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=393;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2295942;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295942" target="_blank">rs2295942</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.93+13G>A;snpeff.Amino_Acid_length=72;snpeff.Gene_Name=GNG12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG12" target="_blank">GNG12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370982;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370982;SAVANT_GENE=GNG12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG12" target="_blank">GNG12</a>;SAVANT_INFO=-/132.0kb/4/4.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.93+13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNG12+c.93+13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68173264">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,73:132:99:1985,0,1567:127	1|1:0,151:151:99:5231,454,0:127	0|1:63,47:110:99:1282,0,1857:127
1	68603586	.	C	T	15864.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=350;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs983034;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=983034" target="_blank">rs983034</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=43528;ExAC.Info.AN=126704;ExAC.Info.AF=0.344;ExAC.Info.AC_Het=27402;ExAC.Info.AC_Hom=8044;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1060-394C>T;snpeff.Gene_Name=GNG12-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG12-AS1" target="_blank">GNG12-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420587;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val465Ile/c.1393G>A;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=WLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG12-AS1" target="_blank">GNG12-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540432;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354777;SAVANT_GENE=WLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WLS" target="_blank">WLS</a>;SAVANT_INFO=-/134.1kb/12/2.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1387G>A_p.Val463Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WLS+c.1387G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68603586">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,52:111:99:1302,0,1757:127	0|1:69,54:123:99:1581,0,2034:127	1|1:0,116:116:99:3947,349,0:127
1	68620762	.	G	A	17347.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=565;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3762371;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3762371" target="_blank">rs3762371</a>;ExAC.Info.AC=45457;ExAC.Info.AN=126666;ExAC.Info.AF=0.359;ExAC.Info.AC_Het=27778;ExAC.Info.AC_Hom=8711;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.666+20C>T;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=WLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WLS" target="_blank">WLS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540432;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1213+16629G>A;snpeff.Gene_Name=GNG12-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WLS" target="_blank">WLS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420587;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354777;SAVANT_GENE=WLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WLS" target="_blank">WLS</a>;SAVANT_INFO=-/134.1kb/12/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.660+20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WLS+c.660+20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68620762">View</a>	GT:AD:DP:GQ:PL:TP	0/1:80,92:172:99:2472,0,2350:127	0/1:101,102:203:99:2905,0,3122:127	0/1:111,79:190:99:2034,0,3260:127
1	68624878	.	C	T	9924.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=325;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748705;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748705" target="_blank">rs3748705</a>;ExAC.Info.AC=46293;ExAC.Info.AN=126704;ExAC.Info.AF=0.365;ExAC.Info.AC_Het=28890;ExAC.Info.AC_Hom=8694;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1213+20745C>T;snpeff.Gene_Name=GNG12-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG12-AS1" target="_blank">GNG12-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420587;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala144Ala/c.432G>A;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=WLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG12-AS1" target="_blank">GNG12-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354777;SAVANT_GENE=WLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WLS" target="_blank">WLS</a>;SAVANT_INFO=-/134.1kb/12/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.426G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WLS+c.426G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68624878">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,48:111:99:1388,0,1651:127	0/1:65,58:123:99:1789,0,1887:127	0/1:55,36:91:99:976,0,1734:127
1	68905358	.	G	C	20438.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=410;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Leber_congenital_amaurosis_2|_204100_(3)|_Retinitis_pigmentosa_20|_613794_(3);dbSNP139.ID=rs1925955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1925955" target="_blank">rs1925955</a>;ExAC.Info.AC=66406;ExAC.Info.AN=126684;ExAC.Info.AF=0.524;ExAC.Info.AC_Het=27317;ExAC.Info.AC_Hom=19412;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.644-33C>G;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=RPE65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPE65" target="_blank">RPE65</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262340;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000262340;SAVANT_GENE=RPE65;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPE65" target="_blank">RPE65</a>;SAVANT_INFO=-/21.1kb/14/2.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.644-33C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPE65+c.644-33C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68905358">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:4130,336,0:127	1|0:89,88:177:99:2867,0,2813:127	1|0:74,47:121:99:1483,0,2337:127
1	68943436	.	G	A	7082.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1924542;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1924542" target="_blank">rs1924542</a>;ExAC.Info.AC=56159;ExAC.Info.AN=125844;ExAC.Info.AF=0.446;ExAC.Info.AC_Het=25849;ExAC.Info.AC_Hom=12882;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2298+34C>T;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456315;SAVANT_GENE=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;SAVANT_INFO=-/23.0kb/12/5.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2298+34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC1+c.2298+34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68943436">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,343,6311:127	0|1:86,58:144:99:2220,0,4601:127	0|1:63,36:99:99:1341,0,3408:127
1	68943442	.	A	G	7188.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3790476;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3790476" target="_blank">rs3790476</a>;ExAC.Info.AC=55791;ExAC.Info.AN=125880;ExAC.Info.AF=0.443;ExAC.Info.AC_Het=26104;ExAC.Info.AC_Hom=12867;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2298+28T>C;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456315;SAVANT_GENE=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;SAVANT_INFO=-/23.0kb/12/5.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2298+28T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC1+c.2298+28T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68943442">View</a>	GT:AD:DP:GQ:PL:TP	0|0:114,0:114:99:0,343,6326:127	0|1:85,61:146:99:2294,0,4682:127	0|1:64,37:101:99:1320,0,3470:127
1	68943665	.	T	G	794.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12119046;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12119046" target="_blank">rs12119046</a>;ExAC.Info.AC=41800;ExAC.Info.AN=126590;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=25742;ExAC.Info.AC_Hom=7787;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2113-10A>C;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456315;SAVANT_GENE=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;SAVANT_INFO=-/23.0kb/12/5.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2113-10A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC1+c.2113-10A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68943665">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1165:95	0|1:27,13:40:99:416,0,805:95	0|0:32,0:32:96:0,96,1083:95
1	68944633	.	A	T	2704.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12759438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12759438" target="_blank">rs12759438</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2112+194T>A;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456315;SAVANT_GENE=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;SAVANT_INFO=-/23.0kb/12/5.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2112+194T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC1+c.2112+194T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68944633">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,2945:127	0|0:101,0:101:99:0,304,3549:127	0|1:42,46:88:99:1371,0,1145:127
1	68944792	.	C	G	1378.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3762282;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3762282" target="_blank">rs3762282</a>;ExAC.Info.AC=7621;ExAC.Info.AN=126556;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=6898;ExAC.Info.AC_Hom=273;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2112+35G>C;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456315;SAVANT_GENE=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;SAVANT_INFO=-/23.0kb/12/5.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2112+35G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC1+c.2112+35G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68944792">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,12:31:99:372,0,569:114	0|0:38,0:38:99:0,114,1436:114	1|0:19,8:27:99:210,0,693:114
1	68947318	.	C	CA	41290.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=561;MQ=70.22;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3833522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3833522" target="_blank">rs3833522</a>;ExAC.Info.AC=80635;ExAC.Info.AN=119694;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=8691;ExAC.Info.AC_Hom=12814;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1763-23_1763-24insT;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.182-1125_182-1124insA;snpeff.Gene_Name=RP4-694A7.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425820;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000456315;SAVANT_GENE=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;SAVANT_INFO=-/23.0kb/12/5.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1763-24dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC1+c.1763-24dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68947318">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,170:171:99:5337,508,0:127	1|1:0,219:219:99:6886,657,0:127	1|1:0,171:171:99:5294,512,0:127
1	68948280	.	A	C	12730.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=548;MQ=68.74;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3790479;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3790479" target="_blank">rs3790479</a>;ExAC.Info.AC=7494;ExAC.Info.AN=124422;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=6946;ExAC.Info.AC_Hom=271;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.182-164A>C;snpeff.Gene_Name=RP4-694A7.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-694A72" target="_blank">RP4-694A72</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425820;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aGa;snpeff.Amino_Acid_Change=p.Ile404Arg/c.1211T>G;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-694A72" target="_blank">RP4-694A72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456315;SAVANT_GENE=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;SAVANT_INFO=-/23.0kb/12/5.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1211T>G_p.Ile404Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC1+c.1211T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68948280">View</a>	GT:AD:DP:GQ:PL:TP	1|0:86,84:170:99:2610,0,2490:127	0|0:212,0:212:99:0,637,7515:127	1|0:75,91:166:99:2923,0,2178:127
1	68960349	.	T	C	1352.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=77;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs78030459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78030459" target="_blank">rs78030459</a>;ExAC.Info.AC=7663;ExAC.Info.AN=126662;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=7060;ExAC.Info.AC_Hom=279;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.78T>C;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.78T>C;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DEP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.78T>C;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DEP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.78T>C;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala26Ala/c.78A>G;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456315;SAVANT_GENE=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;SAVANT_INFO=-/23.0kb/12/5.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.78A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC1+c.78A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68960349">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,6:20:99:160,0,415:83	0|0:28,0:28:84:0,84,1145:83	1|0:11,18:29:99:531,0,324:83
1	68960404	.	A	T	1111.54	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=44;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72674357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72674357" target="_blank">rs72674357</a>;ExAC.Info.AC=6074;ExAC.Info.AN=125820;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=5508;ExAC.Info.AC_Hom=141;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.49-26T>A;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.49A>T;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.49A>T;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456315;SAVANT_GENE=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;SAVANT_INFO=-/23.0kb/12/5.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.49-26T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC1+c.49-26T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68960404">View</a>	GT:AD:DP:GQ:PL:TP	0|0:10,0:10:30:0,30,571:29	0|0:15,0:15:45:0,45,847:29	0|1:7,12:19:99:454,0,325:29
1	68960411	.	T	G	1113.55	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=43;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72674358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72674358" target="_blank">rs72674358</a>;ExAC.Info.AC=6027;ExAC.Info.AN=125428;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=5160;ExAC.Info.AC_Hom=128;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.49-33A>C;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.49T>G;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.49T>G;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456315;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456315;SAVANT_GENE=DEPDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC1" target="_blank">DEPDC1</a>;SAVANT_INFO=-/23.0kb/12/5.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.49-33A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC1+c.49-33A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:68960411">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:27:0,27,541:26	0|0:16,0:16:48:0,48,884:26	0|1:7,11:18:99:455,0,325:26
1	70034263	.	C	G	5494.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=572;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72671185;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72671185" target="_blank">rs72671185</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70034263">View</a>	GT:AD:DP:GQ:PL:TP	0|0:185,0:185:99:0,556,6482:127	0|1:115,98:213:99:2766,0,3329:127	0|0:174,0:174:99:0,523,6043:127
1	70034370	.	C	CCAGCCGCGTG	24156.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=221;MQ=71.28;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11280966;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11280966" target="_blank">rs11280966</a>;ExAC.Info.AC=104162;ExAC.Info.AN=114846;ExAC.Info.AF=0.907;ExAC.Info.AC_Het=7393;ExAC.Info.AC_Hom=40654;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70034370">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2855,195,0:127	1|1:0,79:79:99:3508,236,0:127	1|1:0,77:77:99:3369,230,0:127
1	70304758	.	A	G	11706.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs12735430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12735430" target="_blank">rs12735430</a>;ExAC.Info.AC=20973;ExAC.Info.AN=76386;ExAC.Info.AF=0.275;ExAC.Info.AC_Het=3748;ExAC.Info.AC_Hom=1285;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.533+792A>G;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534A>G;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534A>G;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000035383;SAVANT_GENE=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;SAVANT_INFO=+/362.1kb/25/5.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.533+792A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC7+c.533+792A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70304758">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,39:95:99:968,0,1437:127	0|1:66,55:121:99:1396,0,1966:127	1|1:0,92:92:99:3046,276,0:127
1	70335682	.	T	C	21240.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=455;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2226284;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2226284" target="_blank">rs2226284</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.533+31716T>C;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000035383;SAVANT_GENE=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;SAVANT_INFO=+/362.1kb/25/5.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.533+31716T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC7+c.533+31716T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70335682">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,63:140:99:1800,0,2066:127	1|1:0,157:157:99:5794,472,0:127	0|1:76,82:158:99:2537,0,2118:127
1	70397087	.	T	C	23769.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=459;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7530457;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7530457" target="_blank">rs7530457</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.534-103T>C;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534T>C;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000035383;SAVANT_GENE=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;SAVANT_INFO=+/362.1kb/25/5.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.534-103T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC7+c.534-103T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70397087">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,68:129:99:1916,0,1542:127	1|1:1,191:192:99:6675,541,0:127	0|1:69,69:138:99:2150,0,1840:127
1	70460304	.	A	G	3620.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72676879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72676879" target="_blank">rs72676879</a>;ExAC.Info.AC=847;ExAC.Info.AN=126686;ExAC.Info.AF=6.686e-03;ExAC.Info.AC_Het=820;ExAC.Info.AC_Hom=13;snpeff.Effect=sequence_feature[repeat:LRR_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.878A>G;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.878A>G;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn293Ser/c.878A>G;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000035383;SAVANT_GENE=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;SAVANT_INFO=+/362.1kb/25/5.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.878A>G_p.Asn293Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC7+c.878A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70460304">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,19:48:99:447,0,838:127	0|0:76,0:76:99:0,228,2483:127	1|0:33,32:65:99:912,0,884:127
1	70587360	.	C	T	8427.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs641909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=641909" target="_blank">rs641909</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4507-103C>T;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4507C>T;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4507C>T;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4507C>T;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4507C>T;snpeff.Amino_Acid_length=1537;snpeff.Gene_Name=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000035383;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000035383;SAVANT_GENE=LRRC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC7" target="_blank">LRRC7</a>;SAVANT_INFO=+/362.1kb/25/5.0kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.4507-103C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC7+c.4507-103C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70587360">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1135,102,0:101	1|1:0,45:45:99:1613,135,0:101	1|1:0,34:34:99:1277,102,0:101
1	70646748	.	T	C	1923.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72678609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72678609" target="_blank">rs72678609</a>;ExAC.Info.AC=1789;ExAC.Info.AN=126512;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1661;ExAC.Info.AC_Hom=18;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.661+21A>G;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=LRRC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC40" target="_blank">LRRC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370952;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>C;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=LRRC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC40" target="_blank">LRRC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370952;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>C;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=LRRC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC40" target="_blank">LRRC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370952;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370952;SAVANT_GENE=LRRC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC40" target="_blank">LRRC40</a>;SAVANT_INFO=-/60.8kb/15/2.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.661+21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC40+c.661+21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70646748">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,9:20:99:273,0,338:84	1|0:14,14:28:99:493,0,445:84	0|0:28,0:28:84:0,84,930:84
1	70654981	.	GAAA	G	1276.06	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.152-28_152-26delTTT;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=LRRC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC40" target="_blank">LRRC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370952;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370952;SAVANT_GENE=LRRC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC40" target="_blank">LRRC40</a>;SAVANT_INFO=-/60.8kb/15/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.152-28_152-26delTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC40+c.152-28_152-26delTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70654981">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,9:27:99:178,0,431:67	0/1:35,12:47:67:67,0,725:67	0/1:34,17:51:99:221,0,695:67
1	70742532	.	CA	C	54.54	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1216-6delT;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=ANKRD13C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD13C" target="_blank">ANKRD13C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370944;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1216delT;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=ANKRD13C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD13C" target="_blank">ANKRD13C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370944;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370944;SAVANT_GENE=ANKRD13C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD13C" target="_blank">ANKRD13C</a>;SAVANT_INFO=-/94.1kb/13/4.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1216-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD13C+c.1216-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70742532">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,1:50:99:0,145,1262:23	0|0:70,9:79:24:0,24,1584:23	0|1:65,12:77:30:30,0,1477:23
1	70831841	.	C	T	5130.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7539544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7539544" target="_blank">rs7539544</a>;ExAC.Info.AC=3973;ExAC.Info.AN=68846;ExAC.Info.AF=0.058;ExAC.Info.AC_Het=1558;ExAC.Info.AC_Hom=159;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.258-169C>T;snpeff.Amino_Acid_length=154;snpeff.Gene_Name=HHLA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHLA3" target="_blank">HHLA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000432224;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370940;SAVANT_GENE=HHLA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHLA3" target="_blank">HHLA3</a>;SAVANT_INFO=+/13.2kb/3/0.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.161-286C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHLA3+c.161-286C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70831841">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,45:77:99:1193,0,889:127	0|0:80,0:80:99:0,240,2817:127	1|0:48,35:83:99:986,0,1609:127
1	70832053	.	G	A	1726.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6661178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6661178" target="_blank">rs6661178</a>;ExAC.Info.AC=4269;ExAC.Info.AN=125450;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=3954;ExAC.Info.AC_Hom=85;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.259+42G>A;snpeff.Amino_Acid_length=154;snpeff.Gene_Name=HHLA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHLA3" target="_blank">HHLA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000432224;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370940;SAVANT_GENE=HHLA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHLA3" target="_blank">HHLA3</a>;SAVANT_INFO=+/13.2kb/3/0.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.161-74G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHLA3+c.161-74G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70832053">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1983:127	0|0:63,0:63:99:0,190,2487:127	0|1:20,30:50:99:882,0,614:127
1	70904800	.	G	T	5566.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=563;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Cystathioninuria|_219500_(3)|_Homocysteine|_total_plasma|_elevated_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1021737;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1021737" target="_blank">rs1021737</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_homocysteine_levels;hgmd_2014.2.OMIM_ID=607657;hgmd_2014.2.PubMed=15151507;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15151507" target="_blank">15151507</a>;ExAC.Info.AC=35072;ExAC.Info.AN=126704;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=24386;ExAC.Info.AC_Hom=5324;Clinvar.ClinicalSignificance=Pathogenic;Clinvar.RCVaccession=RCV000003075;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aTt;snpeff.Amino_Acid_Change=p.Ser403Ile/c.1208G>T;snpeff.Amino_Acid_length=405;snpeff.Gene_Name=CTH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTH" target="_blank">CTH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370938;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370938;SAVANT_GENE=CTH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTH" target="_blank">CTH</a>;SAVANT_INFO=+/28.3kb/12/1.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1208G>T_p.Ser403Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTH+c.1208G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:70904800">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003075" target="_blank">Pathogenic</a> 	GT:AD:DP:GQ:PL:TP	0|0:165,0:165:99:0,496,5626:127	0|1:93,107:200:99:2802,0,2669:127	0|0:198,0:198:99:0,595,6808:127
1	71331430	.	G	A	3233.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs5702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5702" target="_blank">rs5702</a>;ExAC.Info.AC=31412;ExAC.Info.AN=126704;ExAC.Info.AF=0.248;ExAC.Info.AC_Het=22601;ExAC.Info.AC_Hom=4399;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PTGER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGER3" target="_blank">PTGER3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGER3" target="_blank">PTGER3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGER3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:71331430">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,16:30:99:403,0,396:120	0|0:40,0:40:99:0,120,1363:120	1|0:26,26:52:99:718,0,650:120
1	71331498	.	A	G	8684.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1409986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1409986" target="_blank">rs1409986</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PTGER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGER3" target="_blank">PTGER3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGER3" target="_blank">PTGER3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGER3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:71331498">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:824,69,0:107	1|1:0,37:37:99:1429,111,0:107	1|1:0,37:37:99:1384,111,0:107
1	71334870	.	C	T	6609.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1536537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1536537" target="_blank">rs1536537</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PTGER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGER3" target="_blank">PTGER3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGER3" target="_blank">PTGER3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGER3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:71334870">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,15:41:99:395,0,850:127	1|1:0,56:56:99:1828,168,0:127	0|1:17,25:42:99:703,0,474:127
1	71377650	.	T	C	43340.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=681;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs11209716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11209716" target="_blank">rs11209716</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1105-25639A>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=PTGER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGER3" target="_blank">PTGER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354608;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGER3" target="_blank">PTGER3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGER3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:71377650">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,198:198:99:6974,595,0:127	1|1:0,258:258:99:8806,774,0:127	1|0:105,120:225:99:3549,0,2835:127
1	71419499	.	C	T	5151.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=61;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs571705;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=571705" target="_blank">rs571705</a>;ExAC.Info.AC=21070;ExAC.Info.AN=25090;ExAC.Info.AF=0.840;ExAC.Info.AC_Het=1846;ExAC.Info.AC_Hom=5847;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1078-27G>A;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=PTGER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGER3" target="_blank">PTGER3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354608;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356595;SAVANT_GENE=PTGER3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGER3" target="_blank">PTGER3</a>;SAVANT_INFO=-/95.4kb/4/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.1078-27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGER3+c.1078-27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:71419499">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,17:17:51:641,51,0:56	1|1:0,25:25:75:915,75,0:56	1|1:0,19:19:57:716,57,0:56
1	71537943	.	A	G	2227.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11209745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11209745" target="_blank">rs11209745</a>;ExAC.Info.AC=41597;ExAC.Info.AN=126516;ExAC.Info.AF=0.329;ExAC.Info.AC_Het=24720;ExAC.Info.AC_Hom=7976;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.379-5T>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=ZRANB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB2" target="_blank">ZRANB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370920;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379T>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=ZRANB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB2" target="_blank">ZRANB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370920;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370920;SAVANT_GENE=ZRANB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB2" target="_blank">ZRANB2</a>;SAVANT_INFO=-/18.0kb/10/3.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.379-5T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZRANB2+c.379-5T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:71537943">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,21:45:99:586,0,622:127	0|0:52,0:52:99:0,156,1738:127	1|0:20,12:32:99:379,0,645:127
1	72058552	.	G	A	35856.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=453;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1413368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1413368" target="_blank">rs1413368</a>;ExAC.Info.AC=119594;ExAC.Info.AN=126704;ExAC.Info.AF=0.944;ExAC.Info.AC_Het=5718;ExAC.Info.AC_Hom=56902;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888G>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=NEGR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEGR1" target="_blank">NEGR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357731;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888G>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=NEGR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEGR1" target="_blank">NEGR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357731;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888G>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=NEGR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEGR1" target="_blank">NEGR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357731;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888G>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=NEGR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEGR1" target="_blank">NEGR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357731;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr296Thr/c.888C>T;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=NEGR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEGR1" target="_blank">NEGR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357731;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357731;SAVANT_GENE=NEGR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEGR1" target="_blank">NEGR1</a>;SAVANT_INFO=-/879.8kb/7/5.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.888C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEGR1+c.888C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:72058552">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4347,376,0:127	1|1:0,180:180:99:6368,541,0:127	1|1:0,148:148:99:5101,444,0:127
1	74575182	.	C	T	10681.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1340472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1340472" target="_blank">rs1340472</a>;ExAC.Info.AC=110544;ExAC.Info.AN=124978;ExAC.Info.AF=0.885;ExAC.Info.AC_Het=11426;ExAC.Info.AC_Hom=49225;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala255Thr/c.763G>A;snpeff.Amino_Acid_length=624;snpeff.Gene_Name=LRRIQ3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRIQ3" target="_blank">LRRIQ3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395089;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354431;SAVANT_GENE=LRRIQ3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRIQ3" target="_blank">LRRIQ3</a>;SAVANT_INFO=-/172.2kb/8/2.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.763G>A_p.Ala255Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRIQ3+c.763G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74575182">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1355,117,0:127	1|1:0,52:52:99:1879,156,0:127	1|1:0,53:53:99:1692,159,0:127
1	74664149	.	T	C	9824.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4422957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4422957" target="_blank">rs4422957</a>;ExAC.Info.AC=45699;ExAC.Info.AN=111572;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=8217;ExAC.Info.AC_Hom=4384;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.121+105T>C;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.121+105T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=FPGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370898;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.82+105T>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370898:ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT:FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT:FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT:FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/9.0kb/4/3.2kb:+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In1/2:In1/2:In1/2;SAVANT_HGVS=c.82+105T>C:c.82+105T>C:c.82+105T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR:INTR;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT:FPGT-TNNI3K:RP11-653A52+c.82+105T>C:c.82+105T>C:c.82+105T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74664149">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,41:68:99:1254,0,671:127	0|1:43,42:85:99:1266,0,1154:127	1|1:0,56:56:99:2047,168,0:127
1	74665493	.	G	A	22070.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=505;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs792310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=792310" target="_blank">rs792310</a>;ExAC.Info.AC=60828;ExAC.Info.AN=126702;ExAC.Info.AF=0.480;ExAC.Info.AC_Het=29916;ExAC.Info.AC_Hom=15430;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val89Val/c.267G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=FPGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT" target="_blank">FPGT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370898;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val76Val/c.228G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT" target="_blank">FPGT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val89Val/c.267G>A;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT" target="_blank">FPGT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370898:ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT:FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT:FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT:FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/9.0kb/4/3.2kb:+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=Ex2:Ex2:Ex2;SAVANT_HGVS=c.228G>A_p.=:c.228G>A_p.=:c.228G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:SC:SC;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT:FPGT-TNNI3K:RP11-653A52+c.228G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74665493">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,80:150:99:2212,0,2077:127	0|1:115,81:196:99:2143,0,3537:127	1|1:0,159:159:99:5661,478,0:127
1	74666507	.	T	C	1408.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs9804006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9804006" target="_blank">rs9804006</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.290-495T>C;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.290-495T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=FPGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370898;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.251-495T>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370898:ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT:FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT:FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT:FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/9.0kb/4/3.2kb:+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In2/3:In2/3:In2/3;SAVANT_HGVS=c.251-495T>C:c.251-495T>C:c.251-495T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR:INTR;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT:FPGT-TNNI3K:RP11-653A52+c.251-495T>C:c.251-495T>C:c.251-495T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74666507">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,11:29:99:285,0,493:84	1|0:14,7:21:99:186,0,372:84	0|0:28,0:28:84:0,84,923:84
1	74670172	.	A	G	5312.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12046751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12046751" target="_blank">rs12046751</a>;ExAC.Info.AC=42391;ExAC.Info.AN=126698;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=26746;ExAC.Info.AC_Hom=7810;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.382+3078A>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.343+3078A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys160Lys/c.480A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=FPGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370898;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370898:ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT:FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT:FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT:FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/9.0kb/4/3.2kb:+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=Ex4:In3/4:In3/4;SAVANT_HGVS=c.441A>G_p.=:c.343+3078A>G:c.343+3078A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR:INTR;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT:FPGT-TNNI3K:RP11-653A52+c.441A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74670172">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,33:82:99:890,0,1369:127	1|0:57,38:95:99:1116,0,1708:127	0|0:93,0:93:99:0,280,3163:127
1	74671074	.	C	T	13152.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=605;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55882158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55882158" target="_blank">rs55882158</a>;ExAC.Info.AC=233;ExAC.Info.AN=126704;ExAC.Info.AF=1.839e-03;ExAC.Info.AC_Het=233;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.382+3980C>T;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.343+3980C>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cTc;snpeff.Amino_Acid_Change=p.Pro461Leu/c.1382C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=FPGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370898;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370898:ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT:FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT:FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT:FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/9.0kb/4/3.2kb:+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=Ex4:In3/4:In3/4;SAVANT_HGVS=c.1343C>T_p.Pro448Leu:c.343+3980C>T:c.343+3980C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:INTR:INTR;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT:FPGT-TNNI3K:RP11-653A52+c.1343C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74671074">View</a>	GT:AD:DP:GQ:PL:TP	0|1:99,82:181:99:2290,0,2902:127	1|0:119,110:229:99:3266,0,3510:127	0|0:195,0:195:99:0,586,7087:127
1	74699099	.	T	G	4319.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3753183;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753183" target="_blank">rs3753183</a>;ExAC.Info.AC=694;ExAC.Info.AN=14064;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=623;ExAC.Info.AC_Hom=23;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FPGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT" target="_blank">FPGT</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.383-2687T>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT" target="_blank">FPGT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.344-2687T>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT" target="_blank">FPGT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In3/4:In3/4;SAVANT_HGVS=c.344-2687T>G:c.344-2687T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52+c.344-2687T>G:c.344-2687T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74699099">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,18:50:99:493,0,796:116	0|0:84,0:84:99:0,252,2756:116	1|1:0,39:39:99:1342,117,0:116
1	74701950	.	T	A	15172.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs532221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=532221" target="_blank">rs532221</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.491+56T>A;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.452+56T>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.453T>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.453T>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In4/5:In4/5;SAVANT_HGVS=c.452+56T>A:c.452+56T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52+c.452+56T>A:c.452+56T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74701950">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,56:116:99:1623,0,1623:127	0|1:65,63:128:99:1899,0,1884:127	1|1:0,117:117:99:4102,352,0:127
1	74705555	.	G	T	2102.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72670791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72670791" target="_blank">rs72670791</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.491+3661G>T;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.452+3661G>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.453G>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.453G>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In4/5:In4/5;SAVANT_HGVS=c.452+3661G>T:c.452+3661G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52+c.452+3661G>T:c.452+3661G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74705555">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,315,3536:127	0|0:107,0:107:99:0,321,3707:127	0|1:54,40:94:99:1071,0,1712:127
1	74705684	.	G	C	9159.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs41289186;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41289186" target="_blank">rs41289186</a>;ExAC.Info.AC=1027;ExAC.Info.AN=23234;ExAC.Info.AF=0.044;ExAC.Info.AC_Het=903;ExAC.Info.AC_Hom=35;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.491+3790G>C;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.452+3790G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.453G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.453G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In4/5:In4/5;SAVANT_HGVS=c.452+3790G>C:c.452+3790G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52+c.452+3790G>C:c.452+3790G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74705684">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,37:85:99:1016,0,1425:127	0|0:107,0:107:99:0,321,3708:127	1|1:0,87:87:99:2913,261,0:127
1	74819077	.	T	G	51728.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=639;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6424586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6424586" target="_blank">rs6424586</a>;ExAC.Info.AC=119397;ExAC.Info.AN=126658;ExAC.Info.AF=0.943;ExAC.Info.AC_Het=6649;ExAC.Info.AC_Hom=55621;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1369+33T>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1330+33T>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.383-11406A>C;snpeff.Gene_Name=RP11-439H8.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415549;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1331T>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1331T>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In12/13:In12/13;SAVANT_HGVS=c.1330+33T>G:c.1330+33T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52+c.1330+33T>G:c.1330+33T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74819077">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,210:210:99:7462,631,0:127	1|1:0,227:227:99:8448,682,0:127	1|1:0,202:202:99:7461,607,0:127
1	74901739	.	CT	C	528.75	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=18;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs67642732;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67642732" target="_blank">rs67642732</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2115-24delT;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2076-24delT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2076delT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2076delT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2076delT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2076delT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2076delT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2076delT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2076delT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2076delT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2076delT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In19/20:In19/20;SAVANT_HGVS=c.2076-5delT:c.2076-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS:SS;SAVANT_ALTANN=HGVSAndClass:HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52+c.2076-5delT:c.2076-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74901739">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,2:7:2:2,0,54:8	0|1:1,5:6:2:52,3,0:8	1|1:0,5:5:14:71,14,0:8
1	74936374	.	A	G	8880.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs596204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=596204" target="_blank">rs596204</a>;ExAC.Info.AC=953;ExAC.Info.AN=2330;ExAC.Info.AF=0.409;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2463+7140A>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2424+7140A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Cca;snpeff.Amino_Acid_Change=p.Ser978Pro/c.2932T>C;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=LRRC53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In23/24:In23/24;SAVANT_HGVS=c.2424+7140A>G:c.2424+7140A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52+c.2424+7140A>G:c.2424+7140A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74936374">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,43:92:99:1327,0,1451:127	0|0:133,1:134:99:0,361,4457:127	1|1:0,79:79:99:2996,237,0:127
1	74936454	.	G	C	15696.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=548;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs491922;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=491922" target="_blank">rs491922</a>;ExAC.Info.AC=1016;ExAC.Info.AN=3194;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2463+7220G>C;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2424+7220G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gGc;snpeff.Amino_Acid_Change=p.Ala951Gly/c.2852C>G;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=LRRC53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In23/24:In23/24;SAVANT_HGVS=c.2424+7220G>C:c.2424+7220G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52+c.2424+7220G>C:c.2424+7220G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74936454">View</a>	GT:AD:DP:GQ:PL:TP	1|0:99,85:184:99:2425,0,2705:127	0|0:222,2:224:99:0,624,7969:127	1|1:1,139:140:99:5005,378,0:127
1	74937749	.	A	G	22123.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=619;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3765674;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3765674" target="_blank">rs3765674</a>;ExAC.Info.AC=11895;ExAC.Info.AN=21472;ExAC.Info.AF=0.554;ExAC.Info.AC_Het=4580;ExAC.Info.AC_Hom=3268;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2463+8515A>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2424+8515A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His519His/c.1557T>C;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=LRRC53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In23/24:In23/24;SAVANT_HGVS=c.2424+8515A>G:c.2424+8515A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52+c.2424+8515A>G:c.2424+8515A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74937749">View</a>	GT:AD:DP:GQ:PL:TP	1|0:89,84:173:99:2495,0,2125:127	0|0:234,1:235:99:0,662,7634:127	1|1:0,211:211:99:7550,634,0:127
1	74941210	.	C	T	27989.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=827;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs648614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=648614" target="_blank">rs648614</a>;ExAC.Info.AC=11896;ExAC.Info.AN=21592;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=4556;ExAC.Info.AC_Hom=3248;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2463+11976C>T;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2424+11976C>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly397Arg/c.1189G>A;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=LRRC53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370891:ENST00000557284:ENST00000416014;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2:LRRC53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52:LRRC53" target="_blank">FPGT-TNNI3K:RP11-653A52:LRRC53</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb:-/11.3kb/4/1.5kb;SAVANT_LOC=In23/24:In23/24:Ex3;SAVANT_HGVS=c.2424+11976C>T:c.2424+11976C>T:c.1189G>A_p.Gly397Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:INTR:NSC;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52:LRRC53+c.2424+11976C>T:c.2424+11976C>T:c.1189G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74941210">View</a>	GT:AD:DP:GQ:PL:TP	1|0:127,135:262:99:3925,0,3809:127	0|0:310,0:310:99:0,931,10759:127	1|1:0,255:255:99:9330,766,0:127
1	74941293	.	G	A	27063.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=880;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs649058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=649058" target="_blank">rs649058</a>;ExAC.Info.AC=13552;ExAC.Info.AN=21766;ExAC.Info.AF=0.623;ExAC.Info.AC_Het=4049;ExAC.Info.AC_Hom=4160;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2463+12059G>A;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2424+12059G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aTt;snpeff.Amino_Acid_Change=p.Thr369Ile/c.1106C>T;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=LRRC53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370891:ENST00000557284:ENST00000416014;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2:LRRC53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52:LRRC53" target="_blank">FPGT-TNNI3K:RP11-653A52:LRRC53</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb:-/11.3kb/4/1.5kb;SAVANT_LOC=In23/24:In23/24:Ex3;SAVANT_HGVS=c.2424+12059G>A:c.2424+12059G>A:c.1106C>T_p.Thr369Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:INTR:NSC;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52:LRRC53+c.2424+12059G>A:c.2424+12059G>A:c.1106C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74941293">View</a>	GT:AD:DP:GQ:PL:TP	1|0:136,146:282:99:4010,0,4000:127	0|0:333,1:334:99:0,959,12308:127	1|1:0,264:264:99:8610,793,0:127
1	74954856	.	C	CT	2467.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs45592143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45592143" target="_blank">rs45592143</a>;ExAC.Info.AC=4186;ExAC.Info.AN=126674;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=3430;ExAC.Info.AC_Hom=359;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-26-5797_-26-5798insA;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=LRRC53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294635;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2464-16_2464-15insT;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2425-16_2425-15insT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425_2426insT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425_2426insT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425_2426insT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425_2426insT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425_2426insT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425_2426insT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425_2426insT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425_2426insT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425_2426insT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC53" target="_blank">LRRC53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In23/24:In23/24;SAVANT_HGVS=c.2425-11dupT:c.2425-11dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS:SS;SAVANT_ALTANN=HGVSAndClass:HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52+c.2425-11dupT:c.2425-11dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:74954856">View</a>	GT:AD:DP:GQ:PL:TP	0|0:116,0:116:99:0,349,3502:127	0|0:139,0:139:99:0,418,4202:127	0|1:58,51:109:99:1257,0,1428:127
1	75006027	.	A	G	32380.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=432;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3895907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3895907" target="_blank">rs3895907</a>;ExAC.Info.AC=57250;ExAC.Info.AN=126556;ExAC.Info.AF=0.452;ExAC.Info.AC_Het=28472;ExAC.Info.AC_Hom=14077;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2773+30A>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=FPGT-TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000557284;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2734+30A>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=TNNI3K;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K" target="_blank">FPGT-TNNI3K</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370891;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370891:ENST00000557284;SAVANT_GENE=FPGT-TNNI3K:RP11-653A5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPGT-TNNI3K:RP11-653A52" target="_blank">FPGT-TNNI3K:RP11-653A52</a>;SAVANT_INFO=+/346.2kb/27/3.3kb:+/345.7kb/27/2.8kb;SAVANT_LOC=In26/27:In26/27;SAVANT_HGVS=c.2734+30A>G:c.2734+30A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FPGT-TNNI3K:RP11-653A52+c.2734+30A>G:c.2734+30A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75006027">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4567,411,0:127	1|1:0,144:144:99:4973,433,0:127	1|1:0,151:151:99:5012,454,0:127
1	75036783	.	T	C	12876.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs9326115;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9326115" target="_blank">rs9326115</a>;ExAC.Info.AC=125610;ExAC.Info.AN=126644;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=937;ExAC.Info.AC_Hom=61346;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=18;snpeff.Amino_Acid_Change=c.*18A>G;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326665;SAVANT_GENE=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;SAVANT_INFO=-/105.6kb/15/7.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*18A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf173+c.*18A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75036783">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1666,138,0:127	1|1:0,46:46:99:1684,138,0:127	1|1:0,51:51:99:1745,153,0:127
1	75036812	.	C	T	16340.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9326116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9326116" target="_blank">rs9326116</a>;ExAC.Info.AC=125674;ExAC.Info.AN=126696;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=940;ExAC.Info.AC_Hom=62265;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val1528Met/c.4582G>A;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326665;SAVANT_GENE=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;SAVANT_INFO=-/105.6kb/15/7.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.4582G>A_p.Val1528Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf173+c.4582G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75036812">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2155,192,0:127	1|1:0,68:68:99:2379,204,0:127	1|1:0,59:59:99:2165,177,0:127
1	75037845	.	A	G	14028.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12723334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12723334" target="_blank">rs12723334</a>;ExAC.Info.AC=47874;ExAC.Info.AN=126704;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=28915;ExAC.Info.AC_Hom=9475;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3549A>G;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3549A>G;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3549A>G;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3549A>G;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3549A>G;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser1183Ser/c.3549T>C;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326665;SAVANT_GENE=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;SAVANT_INFO=-/105.6kb/15/7.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.3549T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf173+c.3549T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75037845">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,58:116:99:1554,0,1553:127	1|1:1,124:125:99:4404,341,0:127	0|0:108,0:108:99:0,325,3777:127
1	75038228	.	A	C	13411.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=558;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11580409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11580409" target="_blank">rs11580409</a>;ExAC.Info.AC=48159;ExAC.Info.AN=126704;ExAC.Info.AF=0.380;ExAC.Info.AC_Het=29019;ExAC.Info.AC_Hom=9568;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3166A>C;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3166A>C;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3166A>C;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3166A>C;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3166A>C;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tta/Gta;snpeff.Amino_Acid_Change=p.Leu1056Val/c.3166T>G;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326665;SAVANT_GENE=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;SAVANT_INFO=-/105.6kb/15/7.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.3166T>G_p.Leu1056Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf173+c.3166T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75038228">View</a>	GT:AD:DP:GQ:PL:TP	0|1:88,86:174:99:2653,0,2586:127	1|0:117,89:206:99:2741,0,3422:127	0|0:178,0:178:99:0,535,6455:127
1	75042626	.	TA	T	175.58	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=83;MQ=70.04;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2177-7delT;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2177delA;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2177delA;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2177delA;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2177delA;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2177delA;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2177delT;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000326665;SAVANT_GENE=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;SAVANT_INFO=-/105.6kb/15/7.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2177-7delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf173+c.2177-7delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75042626">View</a>	GT:AD:DP:GQ:PL:TP	0|0:21,3:24:6:0,6,430:6	0|1:26,5:31:32:32,0,540:6	0|0:26,2:28:30:0,30,583:6
1	75097426	.	G	C	13552.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11210490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11210490" target="_blank">rs11210490</a>;ExAC.Info.AC=54849;ExAC.Info.AN=126692;ExAC.Info.AF=0.433;ExAC.Info.AC_Het=29081;ExAC.Info.AC_Hom=12836;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Gca;snpeff.Amino_Acid_Change=p.Pro264Ala/c.790C>G;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326665;SAVANT_GENE=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;SAVANT_INFO=-/105.6kb/15/7.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.790C>G_p.Pro264Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf173+c.790C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75097426">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,46:88:99:1213,0,1235:127	0|1:66,51:117:99:1563,0,1746:127	1|1:0,103:103:99:3542,309,0:127
1	75132103	.	T	A	4596.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72675368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72675368" target="_blank">rs72675368</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.23+7078A>T;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326665;SAVANT_GENE=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;SAVANT_INFO=-/105.6kb/15/7.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.23+7078A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf173+c.23+7078A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75132103">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,27:46:99:798,0,486:127	1|0:31,36:67:99:1027,0,895:127	0|0:72,0:72:99:0,216,2495:127
1	75132462	.	T	TA	6933.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=235;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs5775255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5775255" target="_blank">rs5775255</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.23+6719_23+6718insT;snpeff.Amino_Acid_length=1530;snpeff.Gene_Name=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326665;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000326665;SAVANT_GENE=C1orf173;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf173" target="_blank">C1orf173</a>;SAVANT_INFO=-/105.6kb/15/7.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.23+6718dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf173+c.23+6718dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75132462">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,39:83:99:845,0,996:127	1|1:0,82:82:99:2311,246,0:127	0|0:70,0:70:99:0,210,1955:127
1	75172652	.	T	C	8447.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17552114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17552114" target="_blank">rs17552114</a>;ExAC.Info.AC=3832;ExAC.Info.AN=126700;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3672;ExAC.Info.AC_Hom=78;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu253Glu/c.759A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=CRYZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRYZ" target="_blank">CRYZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417775;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000417775;SAVANT_GENE=CRYZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRYZ" target="_blank">CRYZ</a>;SAVANT_INFO=-/27.9kb/10/2.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.759A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRYZ+c.759A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75172652">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,78:137:99:2088,0,1392:127	1|0:85,56:141:99:1672,0,2397:127	0|0:106,0:106:99:0,318,3407:127
1	75172756	.	TA	T	1989.0	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=129;MQ=70.06;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10601033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10601033" target="_blank">rs10601033</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.732+30delT;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=CRYZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRYZ" target="_blank">CRYZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417775;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000417775;SAVANT_GENE=CRYZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRYZ" target="_blank">CRYZ</a>;SAVANT_INFO=-/27.9kb/10/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.732+30delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRYZ+c.732+30delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75172756">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,18:37:99:329,0,359:28	1|0:26,24:50:99:473,0,505:28	0|0:38,4:42:28:0,28,804:28
1	75190452	.	C	T	7764.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1051122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1051122" target="_blank">rs1051122</a>;ExAC.Info.AC=95307;ExAC.Info.AN=126700;ExAC.Info.AF=0.752;ExAC.Info.AC_Het=23166;ExAC.Info.AC_Hom=36040;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly18Gly/c.54G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=CRYZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRYZ" target="_blank">CRYZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417775;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000417775;SAVANT_GENE=CRYZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRYZ" target="_blank">CRYZ</a>;SAVANT_INFO=-/27.9kb/10/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.54G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRYZ+c.54G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75190452">View</a>	GT:AD:DP:GQ:PL:TP	0|1:86,58:144:99:1418,0,2419:127	1|0:83,80:163:99:2145,0,2399:127	0|0:132,1:133:99:0,388,4435:127
1	75214390	.	G	C	5422.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=233;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs749690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=749690" target="_blank">rs749690</a>;ExAC.Info.AC=51804;ExAC.Info.AN=126700;ExAC.Info.AF=0.409;ExAC.Info.AC_Het=26600;ExAC.Info.AC_Hom=12358;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.355-45G>C;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=TYW3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TYW3" target="_blank">TYW3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370867;SAVANT_GENE=TYW3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TYW3" target="_blank">TYW3</a>;SAVANT_INFO=+/33.5kb/6/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.355-45G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TYW3+c.355-45G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75214390">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,28:65:99:755,0,1107:127	1|0:40,49:89:99:1467,0,1241:127	0|0:79,0:79:99:0,237,2756:127
1	75614380	.	CT	C	6904.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=486;MQ=70.02;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs35220110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35220110" target="_blank">rs35220110</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.810+14delT;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=LHX8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX8" target="_blank">LHX8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294638;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.811delT;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=LHX8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX8" target="_blank">LHX8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294638;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.811delT;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=LHX8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX8" target="_blank">LHX8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294638;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.811delT;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=LHX8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX8" target="_blank">LHX8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294638;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000294638;SAVANT_GENE=LHX8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX8" target="_blank">LHX8</a>;SAVANT_INFO=+/33.1kb/10/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.810+27delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LHX8+c.810+27delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75614380">View</a>	GT:AD:DP:GQ:PL:TP	0|0:134,8:142:99:0,259,3264:127	0|1:95,85:180:99:1606,0,1826:127	0|1:71,93:164:99:1871,0,1277:127
1	75622616	.	C	T	6100.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=578;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs941032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=941032" target="_blank">rs941032</a>;ExAC.Info.AC=51812;ExAC.Info.AN=126704;ExAC.Info.AF=0.409;ExAC.Info.AC_Het=29592;ExAC.Info.AC_Hom=11110;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.849C>T;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=LHX8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX8" target="_blank">LHX8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294638;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.849C>T;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=LHX8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX8" target="_blank">LHX8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294638;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.849C>T;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=LHX8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX8" target="_blank">LHX8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294638;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His283His/c.849C>T;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=LHX8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX8" target="_blank">LHX8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294638;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294638;SAVANT_GENE=LHX8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX8" target="_blank">LHX8</a>;SAVANT_INFO=+/33.1kb/10/2.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.849C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LHX8+c.849C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75622616">View</a>	GT:AD:DP:GQ:PL:TP	0|0:164,0:164:99:0,493,5535:127	0|1:110,108:218:99:3069,0,2986:127	0|0:196,0:196:99:0,589,6645:127
1	75672376	.	A	G	24630.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=865;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1948874;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1948874" target="_blank">rs1948874</a>;ExAC.Info.AC=51520;ExAC.Info.AN=126696;ExAC.Info.AF=0.407;ExAC.Info.AC_Het=28026;ExAC.Info.AC_Hom=11700;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser692Ser/c.2076T>C;snpeff.Amino_Acid_length=719;snpeff.Gene_Name=SLC44A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A5" target="_blank">SLC44A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370855;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370855;SAVANT_GENE=SLC44A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A5" target="_blank">SLC44A5</a>;SAVANT_INFO=-/406.6kb/24/4.4kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2076T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A5+c.2076T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75672376">View</a>	GT:AD:DP:GQ:PL:TP	0/1:132,124:256:99:3442,0,3599:127	0/1:168,145:313:99:4164,0,4732:127	0/1:174,122:296:99:3530,0,5061:127
1	75680433	.	G	A	6633.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs687715;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=687715" target="_blank">rs687715</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1729-70C>T;snpeff.Amino_Acid_length=719;snpeff.Gene_Name=SLC44A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A5" target="_blank">SLC44A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370855;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370855;SAVANT_GENE=SLC44A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A5" target="_blank">SLC44A5</a>;SAVANT_INFO=-/406.6kb/24/4.4kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1729-70C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A5+c.1729-70C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75680433">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,30:47:99:838,0,508:127	0/1:47,41:88:99:1139,0,1535:127	0/1:37,40:77:99:1126,0,1181:127
1	75681511	.	T	C	28234.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs595009;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=595009" target="_blank">rs595009</a>;ExAC.Info.AC=109893;ExAC.Info.AN=126686;ExAC.Info.AF=0.867;ExAC.Info.AC_Het=14185;ExAC.Info.AC_Hom=47693;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln552Gln/c.1656A>G;snpeff.Amino_Acid_length=719;snpeff.Gene_Name=SLC44A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A5" target="_blank">SLC44A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370855;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370855;SAVANT_GENE=SLC44A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A5" target="_blank">SLC44A5</a>;SAVANT_INFO=-/406.6kb/24/4.4kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.1656A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A5+c.1656A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75681511">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3795,339,0:127	1|1:0,156:156:99:5380,469,0:127	1|1:0,111:111:99:3685,333,0:127
1	75685403	.	T	C	18972.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=556;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs600734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=600734" target="_blank">rs600734</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1178+82A>G;snpeff.Amino_Acid_length=719;snpeff.Gene_Name=SLC44A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A5" target="_blank">SLC44A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370855;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370855;SAVANT_GENE=SLC44A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A5" target="_blank">SLC44A5</a>;SAVANT_INFO=-/406.6kb/24/4.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1178+82A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A5+c.1178+82A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75685403">View</a>	GT:AD:DP:GQ:PL:TP	0/1:77,73:150:99:2096,0,2090:127	0/1:117,111:228:99:3467,0,3305:127	0/1:92,86:178:99:2570,0,2398:127
1	75716925	.	C	T	20524.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs588098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=588098" target="_blank">rs588098</a>;ExAC.Info.AC=93791;ExAC.Info.AN=126702;ExAC.Info.AF=0.740;ExAC.Info.AC_Het=23300;ExAC.Info.AC_Hom=35188;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val105Val/c.315G>A;snpeff.Amino_Acid_length=719;snpeff.Gene_Name=SLC44A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A5" target="_blank">SLC44A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370855;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370855;SAVANT_GENE=SLC44A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A5" target="_blank">SLC44A5</a>;SAVANT_INFO=-/406.6kb/24/4.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.315G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A5+c.315G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:75716925">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2144,198,0:127	1|1:0,122:122:99:3922,366,0:127	1|1:0,76:76:99:2488,228,0:127
1	76143443	.	A	G	9148.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=291;MQ=69.86;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7513363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7513363" target="_blank">rs7513363</a>;ExAC.Info.AC=2678;ExAC.Info.AN=14490;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=1798;ExAC.Info.AC_Hom=252;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7513363" target="_blank">rs7513363</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76143443">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,33:70:99:882,0,893:127	0/1:71,65:136:99:1794,0,1862:127	0/1:55,30:85:99:799,0,1575:127
1	76143458	.	T	C	8366.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=253;MQ=69.83;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7516122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7516122" target="_blank">rs7516122</a>;ExAC.Info.AC=2389;ExAC.Info.AN=14300;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=1652;ExAC.Info.AC_Hom=189;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7516122" target="_blank">rs7516122</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76143458">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,30:61:99:867,0,773:127	0/1:61,56:117:99:1563,0,1651:127	0/1:48,27:75:99:791,0,1349:127
1	76194054	.	C	G	18895.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=556;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Acyl-CoA_dehydrogenase|_medium_chain|_deficiency_of|_201450_(3);dbSNP139.ID=rs7524467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7524467" target="_blank">rs7524467</a>;ExAC.Info.AC=30694;ExAC.Info.AN=126648;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=22513;ExAC.Info.AC_Hom=3980;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.31-32C>G;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370834;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000420607;SAVANT_GENE=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;SAVANT_INFO=+/38.0kb/12/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.31-20C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACADM+c.31-20C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76194054">View</a>	GT:AD:DP:GQ:PL:TP	0/1:99,91:190:99:3070,0,3226:127	0/1:86,103:189:99:3408,0,2829:127	0/1:87,90:177:99:3059,0,2806:127
1	76194229	.	GT	G	29097.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Acyl-CoA_dehydrogenase|_medium_chain|_deficiency_of|_201450_(3);dbSNP139.ID=rs11316888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11316888" target="_blank">rs11316888</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.118+57delT;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370834;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000420607;SAVANT_GENE=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;SAVANT_INFO=+/38.0kb/12/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.130+60delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACADM+c.130+60delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76194229">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:4566,410,0:127	1|1:0,164:164:99:5509,494,0:127	1|1:0,144:144:99:4811,433,0:127
1	76198436	.	T	C	17340.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=579;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Acyl-CoA_dehydrogenase|_medium_chain|_deficiency_of|_201450_(3);dbSNP139.ID=rs2275378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275378" target="_blank">rs2275378</a>;ExAC.Info.AC=34598;ExAC.Info.AN=126674;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=24523;ExAC.Info.AC_Hom=5015;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000123473|RCV000077883;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.216+10T>C;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370834;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000420607;SAVANT_GENE=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;SAVANT_INFO=+/38.0kb/12/1.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.228+10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACADM+c.228+10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76198436">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000123473%20OR%20RCV000077883" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:77,74:151:99:2265,0,2131:127	0/1:132,102:234:99:3217,0,3855:127	0/1:107,87:194:99:2653,0,3033:127
1	76198785	.	G	A	21586.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=702;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Acyl-CoA_dehydrogenase|_medium_chain|_deficiency_of|_201450_(3);dbSNP139.ID=rs3818855;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818855" target="_blank">rs3818855</a>;ExAC.Info.AC=33398;ExAC.Info.AN=124024;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=23215;ExAC.Info.AC_Hom=4727;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala112Ala/c.336G>A;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370834;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000420607;SAVANT_GENE=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;SAVANT_INFO=+/38.0kb/12/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.298+178G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACADM+c.298+178G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76198785">View</a>	GT:AD:DP:GQ:PL:TP	0/1:125,103:228:99:2623,0,3539:127	0/1:126,139:265:99:3837,0,3458:127	0/1:102,107:209:99:2930,0,2806:127
1	76199345	.	C	G	28797.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=925;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Acyl-CoA_dehydrogenase|_medium_chain|_deficiency_of|_201450_(3);dbSNP139.ID=rs2153126;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2153126" target="_blank">rs2153126</a>;ExAC.Info.AC=34590;ExAC.Info.AN=126692;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=24542;ExAC.Info.AC_Hom=4998;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.486+32C>G;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370834;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000420607;SAVANT_GENE=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;SAVANT_INFO=+/38.0kb/12/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.399+32C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACADM+c.399+32C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76199345">View</a>	GT:AD:DP:GQ:PL:TP	0/1:150,134:284:99:3950,0,4779:127	0/1:171,150:321:99:4852,0,5382:127	0/1:167,153:320:99:4946,0,5200:127
1	76205643	.	C	A	11022.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Acyl-CoA_dehydrogenase|_medium_chain|_deficiency_of|_201450_(3);dbSNP139.ID=rs12127402;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12127402" target="_blank">rs12127402</a>;ExAC.Info.AC=29959;ExAC.Info.AN=126490;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=20481;ExAC.Info.AC_Hom=3399;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.568-22C>A;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370834;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000420607;SAVANT_GENE=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;SAVANT_INFO=+/38.0kb/12/1.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.481-22C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACADM+c.481-22C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76205643">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,64:123:99:1721,0,1822:127	0/1:74,72:146:99:2051,0,2341:127	0/1:55,61:116:99:1845,0,1759:127
1	76227022	.	A	G	26257.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=825;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Acyl-CoA_dehydrogenase|_medium_chain|_deficiency_of|_201450_(3);dbSNP139.ID=rs1061337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061337" target="_blank">rs1061337</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Improved_splicing_efficiency;hgmd_2014.2.OMIM_ID=607008;hgmd_2014.2.PubMed=23810226;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23810226" target="_blank">23810226</a>;ExAC.Info.AC=29488;ExAC.Info.AN=126702;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=21961;ExAC.Info.AC_Hom=3745;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000077878;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val420Val/c.1260A>G;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370834;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000420607;SAVANT_GENE=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;SAVANT_INFO=+/38.0kb/12/1.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1173A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACADM+c.1173A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76227022">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000077878" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:135,129:264:99:3531,0,3863:127	0/1:144,162:306:99:5022,0,4396:127	0/1:127,128:255:99:3709,0,3823:127
1	76234886	.	A	G	6230.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=73;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1146593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1146593" target="_blank">rs1146593</a>;ExAC.Info.AC=12135;ExAC.Info.AN=13342;ExAC.Info.AF=0.910;ExAC.Info.AC_Het=786;ExAC.Info.AC_Hom=4865;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACADM+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76234886">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1044,90,0:47	1|1:0,27:27:81:953,81,0:47	1|1:0,16:16:48:637,48,0:47
1	76252011	.	G	A	5477.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1146634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1146634" target="_blank">rs1146634</a>;ExAC.Info.AC=66202;ExAC.Info.AN=126704;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=28050;ExAC.Info.AC_Hom=19054;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3+52G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319942;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319942;SAVANT_GENE=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGGTB" target="_blank">RABGGTB</a>;SAVANT_INFO=+/8.9kb/9/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.3+52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RABGGTB+c.3+52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76252011">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,20:45:99:507,0,724:127	0/1:46,37:83:99:971,0,1302:127	0/1:35,24:59:99:709,0,1086:127
1	76252687	.	T	C	3756.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1146636;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1146636" target="_blank">rs1146636</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ACADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4-495T>C;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADM" target="_blank">ACADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319942;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319942;SAVANT_GENE=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGGTB" target="_blank">RABGGTB</a>;SAVANT_INFO=+/8.9kb/9/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.4-495T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RABGGTB+c.4-495T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76252687">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,16:34:99:520,0,477:127	0/1:22,23:45:99:745,0,645:127	0/1:16,16:32:99:484,0,509:127
1	76257074	.	A	AT	3171.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs35837562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35837562" target="_blank">rs35837562</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.468+53_468+54insT;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGGTB" target="_blank">RABGGTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319942;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:PFTB_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.469_470insT;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGGTB" target="_blank">RABGGTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319942;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:PFTB_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.469_470insT;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGGTB" target="_blank">RABGGTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319942;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:PFTB_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.469_470insT;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGGTB" target="_blank">RABGGTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319942;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000319942;SAVANT_GENE=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGGTB" target="_blank">RABGGTB</a>;SAVANT_INFO=+/8.9kb/9/1.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.469-58dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RABGGTB+c.469-58dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76257074">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,21:64:99:265,0,911:127	0/1:41,30:71:99:441,0,768:127	0/1:30,35:65:99:575,0,504:127
1	76257892	.	A	T	24342.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12703" target="_blank">rs12703</a>;ExAC.Info.AC=113889;ExAC.Info.AN=126704;ExAC.Info.AF=0.899;ExAC.Info.AC_Het=10639;ExAC.Info.AC_Hom=51597;snpeff.Effect=sequence_feature[repeat:PFTB_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.606A>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGGTB" target="_blank">RABGGTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319942;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:PFTB_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.606A>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGGTB" target="_blank">RABGGTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319942;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcT;snpeff.Amino_Acid_Change=p.Ala202Ala/c.606A>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGGTB" target="_blank">RABGGTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319942;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319942;SAVANT_GENE=RABGGTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGGTB" target="_blank">RABGGTB</a>;SAVANT_INFO=+/8.9kb/9/1.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.606A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RABGGTB+c.606A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76257892">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2802,240,0:127	1|1:0,120:120:99:4234,361,0:127	1|1:0,103:103:99:3594,310,0:127
1	76288216	.	G	A	1626.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72688137;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72688137" target="_blank">rs72688137</a>;ExAC.Info.AC=1;ExAC.Info.AN=126686;ExAC.Info.AF=7.894e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tAt;snpeff.Amino_Acid_Change=p.Cys371Tyr/c.1112G>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1112G>A_p.Cys371Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.1112G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76288216">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1157:98	0|1:19,31:50:99:832,0,469:98	0|0:47,0:47:99:0,141,1654:98
1	76288229	.	A	T	1596.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72688139;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72688139" target="_blank">rs72688139</a>;ExAC.Info.AC=1;ExAC.Info.AN=126684;ExAC.Info.AF=7.894e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctT;snpeff.Amino_Acid_Change=p.Leu375Leu/c.1125A>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1125A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.1125A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76288229">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1030:92	0|1:17,27:44:99:817,0,406:92	0|0:43,0:43:99:0,129,1440:92
1	76333163	.	T	G	4707.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs5745433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5745433" target="_blank">rs5745433</a>;ExAC.Info.AC=25559;ExAC.Info.AN=126656;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=19876;ExAC.Info.AC_Hom=2773;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1231-36T>G;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1231-36T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.1231-36T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76333163">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,20:32:99:615,0,331:127	0/1:25,26:51:99:760,0,701:127	0/1:26,22:48:99:626,0,805:127
1	76344011	.	C	A	7059.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1493367;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1493367" target="_blank">rs1493367</a>;ExAC.Info.AC=100811;ExAC.Info.AN=126626;ExAC.Info.AF=0.796;ExAC.Info.AC_Het=19927;ExAC.Info.AC_Hom=40061;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1540+8C>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1541C>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1540+8C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.1540+8C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76344011">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1022,87,0:86	1|1:0,38:38:99:1442,114,0:86	1|0:19,21:40:99:603,0,567:86
1	76344705	.	T	C	21818.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs5745448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5745448" target="_blank">rs5745448</a>;ExAC.Info.AC=43628;ExAC.Info.AN=126684;ExAC.Info.AF=0.344;ExAC.Info.AC_Het=25971;ExAC.Info.AC_Hom=8785;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr523Tyr/c.1569T>C;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1569T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.1569T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76344705">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:3493,241,0:127	1|1:0,91:91:99:4226,286,0:127	1|0:43,46:89:99:1736,0,2555:127
1	76344711	.	A	T	22055.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs5745449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5745449" target="_blank">rs5745449</a>;ExAC.Info.AC=100867;ExAC.Info.AN=126670;ExAC.Info.AF=0.796;ExAC.Info.AC_Het=20028;ExAC.Info.AC_Hom=40320;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctT;snpeff.Amino_Acid_Change=p.Leu525Leu/c.1575A>T;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1575A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.1575A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76344711">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:3285,223,0:127	1|1:0,96:96:99:4338,295,0:127	1|0:46,43:89:99:1725,0,2653:127
1	76346920	.	C	CAT	11845.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5745466;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5745466" target="_blank">rs5745466</a>;ExAC.Info.AC=125107;ExAC.Info.AN=126606;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1283;ExAC.Info.AC_Hom=61661;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1782-10_1782-9insAT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1782-11_1782-10insAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.1782-11_1782-10insAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76346920">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1305,87,0:92	1|1:0,54:54:99:2458,168,0:92	1|1:0,31:31:93:1371,93,0:92
1	76378359	.	ATT	A	188.17	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs71644658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71644658" target="_blank">rs71644658</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2620-21_2620-20delTT;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2620-11_2620-10delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.2620-11_2620-10delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76378359">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,8:66:71:71,0,1870:70	1|0:65,8:73:76:76,0,2136:70	0|0:46,2:48:97:0,97,1641:70
1	76378360	.	T	TA	779.72	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=6729;ExAC.Info.AN=20320;ExAC.Info.AF=0.331;ExAC.Info.AC_Het=2861;ExAC.Info.AC_Hom=47;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2620-20_2620-19insA;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2620-21_2620-20insA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.2620-21_2620-20insA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76378360">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,189,2124:127	0|0:75,0:75:99:0,229,2642:127	0|1:20,18:38:99:413,0,490:127
1	76378361	.	T	A	5174.29	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs5020911;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5020911" target="_blank">rs5020911</a>;ExAC.Info.AC=17044;ExAC.Info.AN=29956;ExAC.Info.AF=0.569;ExAC.Info.AC_Het=5865;ExAC.Info.AC_Hom=283;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2620-20T>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2620-20T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.2620-20T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76378361">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,55:63:81:1356,0,81:81	0/1:12,61:73:99:1489,0,218:81	0/1:36,15:51:99:262,0,851:81
1	76378362	.	T	A	1312.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2881857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2881857" target="_blank">rs2881857</a>;ExAC.Info.AC=7204;ExAC.Info.AN=43140;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=2633;ExAC.Info.AC_Hom=184;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2620-19T>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2620-19T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.2620-19T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76378362">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,271,2612:127	0|0:104,1:105:99:0,292,2986:127	0|1:30,31:61:99:675,0,685:127
1	76378363	.	T	A	4799.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs28693610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28693610" target="_blank">rs28693610</a>;ExAC.Info.AC=16904;ExAC.Info.AN=78954;ExAC.Info.AF=0.214;ExAC.Info.AC_Het=4631;ExAC.Info.AC_Hom=1031;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2620-18T>A;snpeff.Amino_Acid_length=936;snpeff.Gene_Name=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263187;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263187;SAVANT_GENE=MSH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH4" target="_blank">MSH4</a>;SAVANT_INFO=+/116.4kb/20/3.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2620-18T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSH4+c.2620-18T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76378363">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,54:91:99:1245,0,981:127	0/1:60,47:107:99:995,0,1748:127	0/1:35,29:64:99:616,0,790:127
1	76397972	.	C	T	19664.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795251" target="_blank">rs3795251</a>;ExAC.Info.AC=47974;ExAC.Info.AN=126474;ExAC.Info.AF=0.379;ExAC.Info.AC_Het=27368;ExAC.Info.AC_Hom=9881;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser2Asn/c.5G>A;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=ASB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB17" target="_blank">ASB17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284142;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284142;SAVANT_GENE=ASB17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB17" target="_blank">ASB17</a>;SAVANT_INFO=-/13.6kb/3/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.5G>A_p.Ser2Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASB17+c.5G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76397972">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3502,301,0:127	1|1:0,96:96:99:3483,289,0:127	1|0:37,52:89:99:1652,0,1192:127
1	76608691	.	G	T	6195.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12064337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12064337" target="_blank">rs12064337</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.18+68122G>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.19G>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.19G>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328299;SAVANT_GENE=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;SAVANT_INFO=+/559.9kb/5/6.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.18+68122G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST6GALNAC3+c.18+68122G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76608691">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,24:65:99:608,0,1286:127	0/1:37,41:78:99:1162,0,1100:127	0/1:32,24:56:99:694,0,1132:127
1	76779444	.	G	A	8484.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=382;MQ=69.97;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17626151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17626151" target="_blank">rs17626151</a>;ExAC.Info.AC=2701;ExAC.Info.AN=126616;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2586;ExAC.Info.AC_Hom=47;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19-46G>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.19G>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.19G>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328299;SAVANT_GENE=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;SAVANT_INFO=+/559.9kb/5/6.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.19-46G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST6GALNAC3+c.19-46G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:76779444">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,45:97:99:1150,0,1569:127	1|0:73,75:148:99:2216,0,2097:127	0|0:137,0:137:99:0,411,4802:127
1	77042631	.	G	C	5001.71	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=657;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs28439552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28439552" target="_blank">rs28439552</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.624-50506G>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.624G>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.624G>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.624G>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.624G>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.624G>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.624G>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328299;SAVANT_GENE=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;SAVANT_INFO=+/559.9kb/5/6.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.624-50506G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST6GALNAC3+c.624-50506G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:77042631">View</a>	GT:AD:DP:GQ:PL:TP	0|0:225,0:225:99:0,678,8611:127	0|1:133,81:214:99:2524,0,4245:127	0|0:218,0:218:99:0,657,8244:127
1	77093180	.	C	A	5437.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1184626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1184626" target="_blank">rs1184626</a>;ExAC.Info.AC=54770;ExAC.Info.AN=126704;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=29925;ExAC.Info.AC_Hom=12403;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667C>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667C>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667C>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667C>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667C>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667C>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Att;snpeff.Amino_Acid_Change=p.Leu223Ile/c.667C>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328299;SAVANT_GENE=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;SAVANT_INFO=+/559.9kb/5/6.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.667C>A_p.Leu223Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST6GALNAC3+c.667C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:77093180">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,44:100:99:1204,0,1683:127	0|0:120,0:120:99:0,361,4285:127	1|0:36,31:67:99:922,0,1044:127
1	77094242	.	G	A	4875.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41291522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41291522" target="_blank">rs41291522</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.732-63G>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.732G>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.732G>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.732G>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.732G>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328299;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328299;SAVANT_GENE=ST6GALNAC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST6GALNAC3" target="_blank">ST6GALNAC3</a>;SAVANT_INFO=+/559.9kb/5/6.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.732-63G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST6GALNAC3+c.732-63G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:77094242">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,56:107:99:1392,0,1655:127	0|0:132,0:132:99:0,397,4836:127	1|0:71,47:118:99:1271,0,2222:127
1	77627096	.	G	A	12697.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs839825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=839825" target="_blank">rs839825</a>;ExAC.Info.AC=126220;ExAC.Info.AN=126648;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=393;ExAC.Info.AC_Hom=62637;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.703-6C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370812;SAVANT_GENE=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;SAVANT_INFO=-/130.4kb/11/4.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.703-6C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIGK+c.703-6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:77627096">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1419,132,0:127	1|1:0,67:67:99:2202,201,0:127	1|1:0,57:57:99:1934,171,0:127
1	77634948	.	G	A	27684.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1779199;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1779199" target="_blank">rs1779199</a>;ExAC.Info.AC=126120;ExAC.Info.AN=126676;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=527;ExAC.Info.AC_Hom=62690;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr124Tyr/c.372C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370812;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370812;SAVANT_GENE=PIGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGK" target="_blank">PIGK</a>;SAVANT_INFO=-/130.4kb/11/4.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.372C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIGK+c.372C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:77634948">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,144:144:99:4964,433,0:127	1|1:0,127:127:99:4475,382,0:127	1|1:0,116:116:99:4113,348,0:127
1	77759578	.	A	G	6418.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2815311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2815311" target="_blank">rs2815311</a>;ExAC.Info.AC=21471;ExAC.Info.AN=126704;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=17197;ExAC.Info.AC_Hom=2134;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala116Ala/c.348A>G;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354567;SAVANT_GENE=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;SAVANT_INFO=+/277.9kb/14/3.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.348A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK5+c.348A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:77759578">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,31:78:99:912,0,1455:127	1|0:39,46:85:99:1535,0,1206:127	0|0:97,0:97:99:0,292,3609:127
1	77763542	.	G	A	11821.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1167206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1167206" target="_blank">rs1167206</a>;ExAC.Info.AC=126127;ExAC.Info.AN=126692;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=531;ExAC.Info.AC_Hom=62734;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609G>A;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609G>A;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609G>A;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609G>A;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609G>A;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys203Lys/c.609G>A;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354567;SAVANT_GENE=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;SAVANT_INFO=+/277.9kb/14/3.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.609G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK5+c.609G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:77763542">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1736,162,0:127	1|1:0,47:47:99:1629,141,0:127	1|1:0,57:57:99:1873,171,0:127
1	78001764	.	CT	C	164.28	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1620+42delT;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621delT;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621delT;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621delT;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621delT;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621delT;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621delT;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621delT;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000354567;SAVANT_GENE=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;SAVANT_INFO=+/277.9kb/14/3.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1620+55delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK5+c.1620+55delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78001764">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,2:15:8:8,0,274:8	0|0:25,2:27:27:0,27,533:8	1|0:10,3:13:24:24,0,221:8
1	78024284	.	T	C	7710.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6675743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6675743" target="_blank">rs6675743</a>;ExAC.Info.AC=94411;ExAC.Info.AN=126702;ExAC.Info.AF=0.745;ExAC.Info.AC_Het=22942;ExAC.Info.AC_Hom=35656;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1621-3T>C;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621T>C;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621T>C;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621T>C;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621T>C;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621T>C;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621T>C;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylate_kinase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621T>C;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354567;SAVANT_GENE=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;SAVANT_INFO=+/277.9kb/14/3.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1621-3T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK5+c.1621-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78024284">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1184,96,0:80	1|1:0,39:39:99:1421,117,0:80	1|1:0,27:27:81:1085,81,0:80
1	78024345	.	C	CTAT	14002.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs79671213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79671213" target="_blank">rs79671213</a>;ExAC.Info.AC=90388;ExAC.Info.AN=126704;ExAC.Info.AF=0.713;ExAC.Info.AC_Het=23963;ExAC.Info.AC_Hom=33111;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1680_1681insTAT;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=tct/tcTATt;snpeff.Amino_Acid_Change=p.Ser560_Ile561insSerIle/c.1680_1681insTAT;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000354567;SAVANT_GENE=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;SAVANT_INFO=+/277.9kb/14/3.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1681_1683dupATT_p.Ile561dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK5+c.1681_1683dupATT+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78024345">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:2068,141,0:116	1|1:0,51:51:99:2279,156,0:116	1|1:0,37:37:99:1693,117,0:116
1	78024368	.	ATGTT	A	1791.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs200727498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200727498" target="_blank">rs200727498</a>;ExAC.Info.AC=2973;ExAC.Info.AN=126700;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2774;ExAC.Info.AC_Hom=94;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=14;snpeff.Amino_Acid_Change=c.*14_*17delTGTT;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354567;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000354567;SAVANT_GENE=AK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AK5" target="_blank">AK5</a>;SAVANT_INFO=+/277.9kb/14/3.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*18_*21delTGTT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AK5+c.*18_*21delTGTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78024368">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,1754:112	0|1:23,24:47:99:919,0,893:112	0|0:38,0:38:99:0,114,1687:112
1	78184325	.	A	G	1158.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12142671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12142671" target="_blank">rs12142671</a>;ExAC.Info.AC=37172;ExAC.Info.AN=126608;ExAC.Info.AF=0.294;ExAC.Info.AC_Het=24580;ExAC.Info.AC_Hom=6227;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu596Leu/c.1786T>C;snpeff.Amino_Acid_length=942;snpeff.Gene_Name=USP33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP33" target="_blank">USP33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357428;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1786T>C;snpeff.Amino_Acid_length=942;snpeff.Gene_Name=USP33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP33" target="_blank">USP33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357428;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370793;SAVANT_GENE=USP33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP33" target="_blank">USP33</a>;SAVANT_INFO=-/63.9kb/25/4.5kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1786T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP33+c.1786T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78184325">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,1859:127	0|1:28,22:50:99:598,0,726:127	0|0:60,0:60:99:0,180,1950:127
1	78201745	.	G	T	2044.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2296227;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296227" target="_blank">rs2296227</a>;ExAC.Info.AC=46321;ExAC.Info.AN=126696;ExAC.Info.AF=0.366;ExAC.Info.AC_Het=26658;ExAC.Info.AC_Hom=9804;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcA;snpeff.Amino_Acid_Change=p.Ala181Ala/c.543C>A;snpeff.Amino_Acid_length=942;snpeff.Gene_Name=USP33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP33" target="_blank">USP33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357428;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370793;SAVANT_GENE=USP33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP33" target="_blank">USP33</a>;SAVANT_INFO=-/63.9kb/25/4.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.543C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP33+c.543C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78201745">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,2955:127	0|1:39,41:80:99:1041,0,1058:127	0|0:81,0:81:99:0,243,2802:127
1	78383467	.	G	A	35996.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=662;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1CC|_613122_(3)|_Cardiomyopathy|_familial_hypertrophic|_20|_613876_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_G_is_actually_the_minor_allele_for_both_Af_Am_(G:13|92%)_and_Eur_Am_(25|45%)_ESP_populations;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs1749913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1749913" target="_blank">rs1749913</a>;ExAC.Info.AC=100998;ExAC.Info.AN=124922;ExAC.Info.AF=0.808;ExAC.Info.AC_Het=18054;ExAC.Info.AC_Hom=39415;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.219+25G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334785;SAVANT_GENE=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;SAVANT_INFO=+/54.6kb/13/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.219+25G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEXN+c.219+25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78383467">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,194:194:99:6661,583,0:127	1|0:127,108:235:99:3013,0,3934:127	1|1:0,233:233:99:7982,700,0:127
1	78392446	.	G	A	15833.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=734;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1CC|_613122_(3)|_Cardiomyopathy|_familial_hypertrophic|_20|_613876_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1166698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1166698" target="_blank">rs1166698</a>;ExAC.Info.AC=23039;ExAC.Info.AN=125168;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=17968;ExAC.Info.AC_Hom=2524;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly245Arg/c.733G>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334785;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334785;SAVANT_GENE=NEXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEXN" target="_blank">NEXN</a>;SAVANT_INFO=+/54.6kb/13/2.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.733G>A_p.Gly245Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEXN+c.733G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78392446">View</a>	GT:AD:DP:GQ:PL:TP	0|1:123,110:233:99:3260,0,3645:127	1|0:153,125:278:99:3933,0,4416:127	0|0:222,1:223:99:0,630,7655:127
1	78430689	.	A	AG	40844.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=506;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11409017;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11409017" target="_blank">rs11409017</a>;ExAC.Info.AC=126663;ExAC.Info.AN=126676;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=13;ExAC.Info.AC_Hom=63204;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.700-36_700-37insC;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=FUBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FUBP1" target="_blank">FUBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436586;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370768;SAVANT_GENE=FUBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FUBP1" target="_blank">FUBP1</a>;SAVANT_INFO=-/30.7kb/20/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.637-37dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FUBP1+c.637-37dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78430689">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,158:158:99:5797,474,0:127	1|1:0,174:174:99:6517,529,0:127	1|1:0,174:174:99:6470,523,0:127
1	78432503	.	G	C	3340.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=255;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3736909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736909" target="_blank">rs3736909</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.478+65C>G;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=FUBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FUBP1" target="_blank">FUBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436586;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370768;SAVANT_GENE=FUBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FUBP1" target="_blank">FUBP1</a>;SAVANT_INFO=-/30.7kb/20/2.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.415+65C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FUBP1+c.415+65C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78432503">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2939:127	0|1:47,53:100:99:1689,0,1478:127	0|0:78,0:78:99:0,234,2787:127
1	78435701	.	TA	T	216.99	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=127;MQ=70.07;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs202224025;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202224025" target="_blank">rs202224025</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.121-3delT;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=FUBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FUBP1" target="_blank">FUBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436586;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121delT;snpeff.Amino_Acid_length=665;snpeff.Gene_Name=FUBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FUBP1" target="_blank">FUBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436586;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370768;SAVANT_GENE=FUBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FUBP1" target="_blank">FUBP1</a>;SAVANT_INFO=-/30.7kb/20/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.121-3delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FUBP1+c.121-3delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78435701">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,4:45:26:0,26,984:23	0|1:40,7:47:26:26,0,892:23	0|1:28,7:35:84:84,0,645:23
1	78578177	.	T	C	4597.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6666954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6666954" target="_blank">rs6666954</a>;ExAC.Info.AC=37573;ExAC.Info.AN=117642;ExAC.Info.AF=0.319;ExAC.Info.AC_Het=23351;ExAC.Info.AC_Hom=6908;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.608-6900T>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=GIPC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GIPC2" target="_blank">GIPC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370759;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370759;SAVANT_GENE=GIPC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GIPC2" target="_blank">GIPC2</a>;SAVANT_INFO=+/92.5kb/6/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.608-6900T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GIPC2+c.608-6900T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78578177">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,20:61:99:566,0,1083:127	1|0:40,38:78:99:1116,0,1081:127	0|0:54,0:54:99:0,162,1893:127
1	78585086	.	T	C	7866.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs540742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=540742" target="_blank">rs540742</a>;ExAC.Info.AC=31661;ExAC.Info.AN=126700;ExAC.Info.AF=0.250;ExAC.Info.AC_Het=21813;ExAC.Info.AC_Hom=4841;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu206Pro/c.617T>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=GIPC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GIPC2" target="_blank">GIPC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370759;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370759;SAVANT_GENE=GIPC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GIPC2" target="_blank">GIPC2</a>;SAVANT_INFO=+/92.5kb/6/3.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.617T>C_p.Leu206Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GIPC2+c.617T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78585086">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,61:119:99:1775,0,1530:127	1|0:91,66:157:99:1788,0,2680:127	0|0:136,0:136:99:0,409,4794:127
1	78601465	.	C	CT	3324.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3838409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3838409" target="_blank">rs3838409</a>;ExAC.Info.AC=36498;ExAC.Info.AN=126674;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=23178;ExAC.Info.AC_Hom=6242;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39;snpeff.Amino_Acid_Change=c.*39_*40insT;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=GIPC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GIPC2" target="_blank">GIPC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370759;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370759;SAVANT_GENE=GIPC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GIPC2" target="_blank">GIPC2</a>;SAVANT_INFO=+/92.5kb/6/3.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*46dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GIPC2+c.*46dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78601465">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,20:49:99:436,0,693:127	1|0:42,43:85:99:993,0,964:127	0|0:61,0:61:99:0,184,1769:127
1	78958491	.	C	T	7731.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs35227129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35227129" target="_blank">rs35227129</a>;ExAC.Info.AC=8229;ExAC.Info.AN=126698;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=7531;ExAC.Info.AC_Hom=346;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.63C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=PTGFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFR" target="_blank">PTGFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370758;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr21Thr/c.63C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=PTGFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFR" target="_blank">PTGFR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370758;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370757;SAVANT_GENE=PTGFR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFR" target="_blank">PTGFR</a>;SAVANT_INFO=+/48.7kb/3/4.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.63C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGFR+c.63C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:78958491">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,51:112:99:1494,0,1927:127	0|0:133,0:133:99:0,400,4776:127	1|0:51,51:102:99:1471,0,1664:127
1	79093818	.	A	G	6786.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs273259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=273259" target="_blank">rs273259</a>;ExAC.Info.AC=48342;ExAC.Info.AN=126616;ExAC.Info.AF=0.382;ExAC.Info.AC_Het=27832;ExAC.Info.AC_Hom=10114;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His73Arg/c.218A>G;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=IFI44L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44L" target="_blank">IFI44L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370751;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370751;SAVANT_GENE=IFI44L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44L" target="_blank">IFI44L</a>;SAVANT_INFO=+/22.4kb/9/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.218A>G_p.His73Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI44L+c.218A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:79093818">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,35:74:99:1087,0,1235:127	0|0:123,0:123:99:0,370,4506:127	1|0:49,46:95:99:1408,0,1559:127
1	79094593	.	A	G	12668.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs273257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=273257" target="_blank">rs273257</a>;ExAC.Info.AC=124659;ExAC.Info.AN=126548;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1810;ExAC.Info.AC_Hom=60621;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.479-43A>G;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=IFI44L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44L" target="_blank">IFI44L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370751;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370751;SAVANT_GENE=IFI44L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44L" target="_blank">IFI44L</a>;SAVANT_INFO=+/22.4kb/9/2.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.479-43A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI44L+c.479-43A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:79094593">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2341,201,0:110	1|1:0,61:61:99:2302,183,0:110	1|1:0,37:37:99:1406,111,0:110
1	79095581	.	T	C	20443.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs987495;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=987495" target="_blank">rs987495</a>;ExAC.Info.AC=30086;ExAC.Info.AN=126678;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=22557;ExAC.Info.AC_Hom=3745;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile235Thr/c.704T>C;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=IFI44L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44L" target="_blank">IFI44L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370751;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370751;SAVANT_GENE=IFI44L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44L" target="_blank">IFI44L</a>;SAVANT_INFO=+/22.4kb/9/2.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.704T>C_p.Ile235Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI44L+c.704T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:79095581">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2936,243,0:127	1|1:0,108:108:99:4032,324,0:127	1|0:70,63:133:99:1780,0,2149:127
1	79106899	.	T	C	9250.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs273252;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=273252" target="_blank">rs273252</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1149+93T>C;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=IFI44L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44L" target="_blank">IFI44L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370751;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370751;SAVANT_GENE=IFI44L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44L" target="_blank">IFI44L</a>;SAVANT_INFO=+/22.4kb/9/2.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1149+93T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI44L+c.1149+93T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:79106899">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1375,123,0:122	1|1:0,53:53:99:1933,159,0:122	1|0:23,31:54:99:971,0,619:122
1	79107140	.	G	T	12111.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35466823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35466823" target="_blank">rs35466823</a>;ExAC.Info.AC=1420;ExAC.Info.AN=126676;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1382;ExAC.Info.AC_Hom=18;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atT;snpeff.Amino_Acid_Change=p.Met390Ile/c.1170G>T;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=IFI44L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44L" target="_blank">IFI44L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370751;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370751;SAVANT_GENE=IFI44L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44L" target="_blank">IFI44L</a>;SAVANT_INFO=+/22.4kb/9/2.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1170G>T_p.Met390Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI44L+c.1170G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:79107140">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,44:104:99:1207,0,1903:127	1|1:0,122:122:99:4108,367,0:127	0|0:95,1:96:99:0,252,3470:127
1	79128570	.	G	GT	17594.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=408;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;ExAC.Info.AC=51798;ExAC.Info.AN=126702;ExAC.Info.AF=0.409;ExAC.Info.AC_Het=29948;ExAC.Info.AC_Hom=10908;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1288+8_1288+9insT;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=IFI44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44" target="_blank">IFI44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370747;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1289_1290insT;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=IFI44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44" target="_blank">IFI44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370747;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370747;SAVANT_GENE=IFI44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI44" target="_blank">IFI44</a>;SAVANT_INFO=+/14.2kb/9/1.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1288+7_1288+8insT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI44+c.1288+7_1288+8insT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:79128570">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,67:121:99:2334,0,1811:127	1|1:0,136:136:99:5447,412,0:127	0|0:151,0:151:99:0,455,6092:127
1	79355596	.	A	G	9469.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1061728;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061728" target="_blank">rs1061728</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1243;snpeff.Amino_Acid_Change=c.*1243T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370742;SAVANT_GENE=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;SAVANT_INFO=-/117.0kb/15/3.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1243T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELTD1+c.*1243T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:79355596">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1198,105,0:101	1|1:0,41:41:99:1604,123,0:101	1|1:0,34:34:99:1293,102,0:101
1	79357360	.	G	C	12568.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=372;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275902" target="_blank">rs2275902</a>;ExAC.Info.AC=33219;ExAC.Info.AN=125238;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=23980;ExAC.Info.AC_Hom=4539;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1859G>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gGc;snpeff.Amino_Acid_Change=p.Ala620Gly/c.1859C>G;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370742;SAVANT_GENE=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;SAVANT_INFO=-/117.0kb/15/3.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1859C>G_p.Ala620Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELTD1+c.1859C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:79357360">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,48:104:99:1456,0,1653:127	0|0:167,2:169:99:0,473,6168:127	1|1:0,99:99:99:3587,297,0:127
1	79383458	.	A	T	8563.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12569007;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12569007" target="_blank">rs12569007</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1682+57T>A;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1683A>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1683A>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370742;SAVANT_GENE=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;SAVANT_INFO=-/117.0kb/15/3.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1682+57T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELTD1+c.1682+57T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:79383458">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,34:55:99:1013,0,632:127	1|1:2,85:87:99:2880,212,0:127	0|0:84,0:84:99:0,253,3029:127
1	79383766	.	G	T	8322.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs72675852;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72675852" target="_blank">rs72675852</a>;ExAC.Info.AC=6518;ExAC.Info.AN=124884;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=5837;ExAC.Info.AC_Hom=238;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1462-31C>A;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1462G>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1462G>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370742;SAVANT_GENE=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;SAVANT_INFO=-/117.0kb/15/3.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1462-31C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELTD1+c.1462-31C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:79383766">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,39:60:99:1171,0,664:127	0|0:75,1:76:99:0,217,2897:127	1|1:0,78:78:99:2822,234,0:127
1	79403751	.	T	G	10856.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs985277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=985277" target="_blank">rs985277</a>;ExAC.Info.AC=76580;ExAC.Info.AN=125108;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=29172;ExAC.Info.AC_Hom=23586;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.576+34A>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577T>G;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577T>G;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577T>G;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577T>G;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577T>G;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577T>G;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577T>G;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577T>G;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577T>G;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370742;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370742;SAVANT_GENE=ELTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELTD1" target="_blank">ELTD1</a>;SAVANT_INFO=-/117.0kb/15/3.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.576+34A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELTD1+c.576+34A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:79403751">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,38:64:99:1168,0,723:127	1|1:0,101:101:99:3692,304,0:127	0|0:83,0:83:99:0,250,2989:127
1	82302600	.	T	C	4635.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs12064537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12064537" target="_blank">rs12064537</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=70;snpeff.Amino_Acid_Change=c.-70T>C;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359929;SAVANT_GENE=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;SAVANT_INFO=+/292.7kb/21/5.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-70T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LPHN2+c.-70T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:82302600">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,15:23:99:480,0,227:119	0|0:46,0:46:99:0,138,1591:119	1|1:0,40:40:99:1524,120,0:119
1	82402364	.	TAATC	T	3041.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs142993868;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142993868" target="_blank">rs142993868</a>;ExAC.Info.AC=38471;ExAC.Info.AN=126538;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=25667;ExAC.Info.AC_Hom=6006;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.288-47_288-44delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SUEL-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SUEL-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288_291delAATC;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000359929;SAVANT_GENE=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;SAVANT_INFO=+/292.7kb/21/5.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.288-45_288-42delTCAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LPHN2+c.288-45_288-42delTCAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:82402364">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,11:19:99:432,0,425:127	0/1:18,12:30:99:433,0,1047:127	0/1:9,14:23:99:526,0,479:127
1	82421596	.	C	T	41336.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=522;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11163397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11163397" target="_blank">rs11163397</a>;ExAC.Info.AC=126413;ExAC.Info.AN=126678;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=252;ExAC.Info.AC_Hom=62974;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro619Pro/c.1857C>T;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359929;SAVANT_GENE=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;SAVANT_INFO=+/292.7kb/21/5.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1818C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LPHN2+c.1818C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:82421596">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,159:159:99:5519,477,0:127	1|1:0,212:212:99:7407,637,0:127	1|1:0,151:151:99:5224,453,0:127
1	82456107	.	G	C	1694.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72719419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72719419" target="_blank">rs72719419</a>;ExAC.Info.AC=447;ExAC.Info.AN=126682;ExAC.Info.AF=3.529e-03;ExAC.Info.AC_Het=447;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3703G>C;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3703G>C;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3703G>C;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3703G>C;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3703G>C;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Ccc;snpeff.Amino_Acid_Change=p.Ala1235Pro/c.3703G>C;snpeff.Amino_Acid_length=1474;snpeff.Gene_Name=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370725;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359929;SAVANT_GENE=LPHN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPHN2" target="_blank">LPHN2</a>;SAVANT_INFO=+/292.7kb/21/5.7kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.3490G>C_p.Ala1164Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LPHN2+c.3490G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:82456107">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,313,3729:127	0|0:125,0:125:99:0,376,4559:127	0|1:42,31:73:99:866,0,1390:127
1	82459781	.	C	A	1517.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61773977;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61773977" target="_blank">rs61773977</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61773977" target="_blank">rs61773977</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:82459781">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,19:27:99:529,0,222:127	1|0:29,8:37:99:190,0,817:127	0|0:51,0:51:99:0,153,1711:127
1	84355734	.	AAGAACTTCAAGGAT	A	14572.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs71826512;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71826512" target="_blank">rs71826512</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2369+256_2369+269delATCCTTGAAGTTCT;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260505;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000260505;SAVANT_GENE=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;SAVANT_INFO=-/134.1kb/21/8.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2369+256_2369+269del14;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTLL7+c.2369+256_2369+269del14+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:84355734">View</a>	GT:AD:DP:GQ:PL:TP	0/1:67,50:117:99:1876,0,3267:127	0/1:88,68:156:99:2566,0,4272:127	0/1:94,55:149:99:2014,0,4905:127
1	84394792	.	G	A	2332.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12094835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12094835" target="_blank">rs12094835</a>;ExAC.Info.AC=11605;ExAC.Info.AN=126640;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=10361;ExAC.Info.AC_Hom=588;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1142+27C>T;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260505;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1143G>A;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260505;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1143G>A;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260505;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1143G>A;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260505;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1143G>A;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260505;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1143G>A;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260505;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1143G>A;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260505;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1143G>A;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260505;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1143G>A;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260505;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TTL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1143G>A;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260505;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260505;SAVANT_GENE=TTLL7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTLL7" target="_blank">TTLL7</a>;SAVANT_INFO=-/134.1kb/21/8.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1142+27C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTLL7+c.1142+27C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:84394792">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,1:84:99:0,218,2927:127	0|1:34,39:73:99:1185,0,1068:127	0|0:76,0:76:99:0,228,2709:127
1	84640691	.	T	G	10003.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs582201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=582201" target="_blank">rs582201</a>;ExAC.Info.AC=89573;ExAC.Info.AN=92366;ExAC.Info.AF=0.970;ExAC.Info.AC_Het=606;ExAC.Info.AC_Hom=13792;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.188-4169T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=PRKACB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKACB" target="_blank">PRKACB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370685;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370685;SAVANT_GENE=PRKACB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKACB" target="_blank">PRKACB</a>;SAVANT_INFO=+/94.2kb/10/4.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.188-4169T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKACB+c.188-4169T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:84640691">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1350,132,0:127	1|1:0,60:60:99:1964,180,0:127	1|1:0,48:48:99:1693,144,0:127
1	84647502	.	CTT	C	1339.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41300528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41300528" target="_blank">rs41300528</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.250-380_250-379delTT;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=PRKACB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKACB" target="_blank">PRKACB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370685;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370685;SAVANT_GENE=PRKACB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKACB" target="_blank">PRKACB</a>;SAVANT_INFO=+/94.2kb/10/4.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.250-379_250-378delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKACB+c.250-379_250-378delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:84647502">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,2114:125	0|0:42,0:42:99:0,126,1981:125	0|1:21,18:39:99:693,0,855:125
1	84810815	.	A	G	67540.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=940;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs315527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=315527" target="_blank">rs315527</a>;ExAC.Info.AC=16314;ExAC.Info.AN=16768;ExAC.Info.AF=0.973;ExAC.Info.AC_Het=216;ExAC.Info.AC_Hom=6277;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.455A>G;snpeff.Gene_Name=RP11-376N17.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-376N174" target="_blank">RP11-376N174</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000505585;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.226-4499A>G;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-376N174" target="_blank">RP11-376N174</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370671;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.226A>G;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-376N174" target="_blank">RP11-376N174</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370671;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.226A>G;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-376N174" target="_blank">RP11-376N174</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370671;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370673;SAVANT_GENE=SAMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD13" target="_blank">SAMD13</a>;SAVANT_INFO=+/52.4kb/4/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.208-4499A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAMD13+c.208-4499A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:84810815">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,298:298:99:9753,895,0:127	1|1:1,329:330:99:10903,952,0:127	1|1:0,312:312:99:10547,936,0:127
1	84853957	.	A	T	16763.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=[Urate_oxidase_deficiency]_(1);dbSNP139.ID=rs665074;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=665074" target="_blank">rs665074</a>;ExAC.Info.AC=15168;ExAC.Info.AN=15258;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=61;ExAC.Info.AC_Hom=6750;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SAMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD13" target="_blank">SAMD13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.29-3463T>A;snpeff.Gene_Name=UOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD13" target="_blank">SAMD13</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000471089;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD13" target="_blank">SAMD13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAMD13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:84853957">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2158,189,0:127	1|1:0,94:94:99:3225,282,0:127	1|1:0,74:74:99:2589,222,0:127
1	84864256	.	G	C	7672.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3738573;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738573" target="_blank">rs3738573</a>;ExAC.Info.AC=39015;ExAC.Info.AN=125468;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=26385;ExAC.Info.AC_Hom=6240;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9G>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=DNASE2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNASE2B" target="_blank">DNASE2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370665;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caC;snpeff.Amino_Acid_Change=p.Gln3His/c.9G>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=DNASE2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNASE2B" target="_blank">DNASE2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370665;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370665;SAVANT_GENE=DNASE2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNASE2B" target="_blank">DNASE2B</a>;SAVANT_INFO=+/16.5kb/6/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.9G>C_p.Gln3His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNASE2B+c.9G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:84864256">View</a>	GT:AD:DP:GQ:PL:TP	0|0:151,0:151:99:0,454,5316:127	0|1:85,70:155:99:2116,0,2387:127	0|1:58,57:115:99:1740,0,1786:127
1	84867610	.	G	A	6490.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3754274;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3754274" target="_blank">rs3754274</a>;ExAC.Info.AC=27118;ExAC.Info.AN=122456;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=12483;ExAC.Info.AC_Hom=2187;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGa/aAa;snpeff.Amino_Acid_Change=p.Arg51Lys/c.152G>A;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=DNASE2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNASE2B" target="_blank">DNASE2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370665;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370665;SAVANT_GENE=DNASE2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNASE2B" target="_blank">DNASE2B</a>;SAVANT_INFO=+/16.5kb/6/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.152G>A_p.Arg51Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNASE2B+c.152G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:84867610">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,295,3795:127	0|1:57,55:112:99:1615,0,1794:127	0|1:53,52:105:99:1650,0,1723:127
1	84880380	.	T	C	9270.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=507;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3768250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3768250" target="_blank">rs3768250</a>;ExAC.Info.AC=41816;ExAC.Info.AN=126702;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=27757;ExAC.Info.AC_Hom=7006;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His305His/c.915T>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=DNASE2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNASE2B" target="_blank">DNASE2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370665;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370665;SAVANT_GENE=DNASE2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNASE2B" target="_blank">DNASE2B</a>;SAVANT_INFO=+/16.5kb/6/1.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.915T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNASE2B+c.915T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:84880380">View</a>	GT:AD:DP:GQ:PL:TP	0|0:166,0:166:99:0,499,5720:127	0|1:110,85:195:99:2596,0,3284:127	0|1:76,70:146:99:2059,0,2352:127
1	84944989	.	A	G	10789.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2292191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292191" target="_blank">rs2292191</a>;ExAC.Info.AC=73034;ExAC.Info.AN=126550;ExAC.Info.AF=0.577;ExAC.Info.AC_Het=28083;ExAC.Info.AC_Hom=21223;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser9Gly/c.25A>G;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=RPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPF1" target="_blank">RPF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370654;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370654;SAVANT_GENE=RPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPF1" target="_blank">RPF1</a>;SAVANT_INFO=+/18.5kb/9/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.25A>G_p.Ser9Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPF1+c.25A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:84944989">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1177,99,0:127	1|1:0,54:54:99:1949,162,0:127	1|1:0,46:46:99:1557,138,0:127
1	84946745	.	C	T	7928.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7413066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7413066" target="_blank">rs7413066</a>;ExAC.Info.AC=126066;ExAC.Info.AN=126556;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=452;ExAC.Info.AC_Hom=62155;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.285+50C>T;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=RPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPF1" target="_blank">RPF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370654;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370654;SAVANT_GENE=RPF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPF1" target="_blank">RPF1</a>;SAVANT_INFO=+/18.5kb/9/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.285+50C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPF1+c.285+50C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:84946745">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1167,102,0:112	1|1:0,38:38:99:1356,114,0:112	1|1:0,39:39:99:1327,117,0:112
1	85096589	.	T	G	3515.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12125951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12125951" target="_blank">rs12125951</a>;ExAC.Info.AC=1044;ExAC.Info.AN=18092;ExAC.Info.AF=0.058;ExAC.Info.AC_Het=301;ExAC.Info.AC_Hom=22;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.99-19A>C;snpeff.Amino_Acid_length=123;snpeff.Gene_Name=C1orf180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf180" target="_blank">C1orf180</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370624;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370624;SAVANT_GENE=C1orf180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf180" target="_blank">C1orf180</a>;SAVANT_INFO=-/6.8kb/3/2.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.99-19A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf180+c.99-19A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85096589">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,27:47:99:823,0,538:127	0|0:65,0:65:99:0,195,2225:127	1|0:41,26:67:99:672,0,1230:127
1	85113203	.	T	C	19862.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=475;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2994949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2994949" target="_blank">rs2994949</a>;ExAC.Info.AC=103127;ExAC.Info.AN=126702;ExAC.Info.AF=0.814;ExAC.Info.AC_Het=18604;ExAC.Info.AC_Hom=42238;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala586Ala/c.1758A>G;snpeff.Amino_Acid_length=614;snpeff.Gene_Name=SSX2IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSX2IP" target="_blank">SSX2IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342203;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342203;SAVANT_GENE=SSX2IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSX2IP" target="_blank">SSX2IP</a>;SAVANT_INFO=-/46.8kb/14/5.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1758A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SSX2IP+c.1758A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85113203">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,87:166:99:2127,0,2005:127	1|1:0,171:171:99:5480,513,0:127	0|1:72,66:138:99:1734,0,2039:127
1	85113229	.	A	G	18995.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=426;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1057746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057746" target="_blank">rs1057746</a>;ExAC.Info.AC=74115;ExAC.Info.AN=126700;ExAC.Info.AF=0.585;ExAC.Info.AC_Het=29088;ExAC.Info.AC_Hom=22494;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys578Arg/c.1732T>C;snpeff.Amino_Acid_length=614;snpeff.Gene_Name=SSX2IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSX2IP" target="_blank">SSX2IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342203;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342203;SAVANT_GENE=SSX2IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSX2IP" target="_blank">SSX2IP</a>;SAVANT_INFO=-/46.8kb/14/5.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1732T>C_p.Cys578Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SSX2IP+c.1732T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85113229">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,71:143:99:1832,0,1960:127	1|1:0,153:153:99:5137,460,0:127	0|1:63,67:130:99:1984,0,1685:127
1	85121255	.	A	G	16372.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4537578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4537578" target="_blank">rs4537578</a>;ExAC.Info.AC=10167;ExAC.Info.AN=21146;ExAC.Info.AF=0.481;ExAC.Info.AC_Het=3414;ExAC.Info.AC_Hom=2088;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1389+260T>C;snpeff.Amino_Acid_length=614;snpeff.Gene_Name=SSX2IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSX2IP" target="_blank">SSX2IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342203;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342203;SAVANT_GENE=SSX2IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSX2IP" target="_blank">SSX2IP</a>;SAVANT_INFO=-/46.8kb/14/5.8kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1389+260T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SSX2IP+c.1389+260T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85121255">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,63:122:99:1718,0,1563:127	1|1:0,131:131:99:4709,394,0:127	0|1:60,53:113:99:1586,0,1770:127
1	85331808	.	G	GAGA	7513.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs146269415;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146269415" target="_blank">rs146269415</a>;ExAC.Info.AC=88894;ExAC.Info.AN=126612;ExAC.Info.AF=0.702;ExAC.Info.AC_Het=24648;ExAC.Info.AC_Hom=31372;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=6;snpeff.Amino_Acid_Change=c.-6_-7insTCT;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=LPAR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPAR3" target="_blank">LPAR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370611;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000440886;SAVANT_GENE=LPAR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPAR3" target="_blank">LPAR3</a>;SAVANT_INFO=-/54.6kb/2/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-8_-6dupTCT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LPAR3+c.-8_-6dupTCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85331808">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,48:83:99:1900,0,1518:127	0|0:72,0:72:99:0,217,3691:127	1|0:42,39:81:99:1510,0,1887:127
1	85392324	.	C	T	10350.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6681025;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6681025" target="_blank">rs6681025</a>;ExAC.Info.AC=35680;ExAC.Info.AN=126596;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=24536;ExAC.Info.AC_Hom=5061;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=44;snpeff.Amino_Acid_Change=c.*44G>A;snpeff.Amino_Acid_length=566;snpeff.Gene_Name=MCOLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCOLN2" target="_blank">MCOLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370608;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370608;SAVANT_GENE=MCOLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCOLN2" target="_blank">MCOLN2</a>;SAVANT_INFO=-/71.4kb/14/2.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*44G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCOLN2+c.*44G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85392324">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,62:109:99:1625,0,1194:127	0/1:80,58:138:99:1607,0,2349:127	0/1:44,48:92:99:1245,0,1268:127
1	85422061	.	C	T	13103.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs632545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=632545" target="_blank">rs632545</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.565+53G>A;snpeff.Amino_Acid_length=566;snpeff.Gene_Name=MCOLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCOLN2" target="_blank">MCOLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370608;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370608;SAVANT_GENE=MCOLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCOLN2" target="_blank">MCOLN2</a>;SAVANT_INFO=-/71.4kb/14/2.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.565+53G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCOLN2+c.565+53G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85422061">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,66:117:99:1745,0,1384:127	0|0:149,0:149:99:0,448,5376:127	1|1:0,119:119:99:3993,358,0:127
1	85424182	.	A	G	3723.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs673998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=673998" target="_blank">rs673998</a>;ExAC.Info.AC=42828;ExAC.Info.AN=126674;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=28122;ExAC.Info.AC_Hom=7266;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.411+30T>C;snpeff.Amino_Acid_length=566;snpeff.Gene_Name=MCOLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCOLN2" target="_blank">MCOLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370608;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370608;SAVANT_GENE=MCOLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCOLN2" target="_blank">MCOLN2</a>;SAVANT_INFO=-/71.4kb/14/2.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.411+30T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCOLN2+c.411+30T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85424182">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,16:32:99:535,0,468:95	0|0:36,0:36:99:0,108,1260:95	1|1:0,32:32:96:1126,96,0:95
1	85488030	.	G	A	30067.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2028304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2028304" target="_blank">rs2028304</a>;ExAC.Info.AC=104274;ExAC.Info.AN=126692;ExAC.Info.AF=0.823;ExAC.Info.AC_Het=17997;ExAC.Info.AC_Hom=43054;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1149G>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=MCOLN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370589;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu383Leu/c.1149C>T;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=MCOLN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370589;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302814;SAVANT_GENE=MCOLN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCOLN3" target="_blank">MCOLN3</a>;SAVANT_INFO=-/30.4kb/13/2.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1149C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCOLN3+c.1149C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85488030">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4115,387,0:127	1|1:0,124:124:99:4101,372,0:127	1|1:0,120:120:99:4049,361,0:127
1	85511057	.	AAAC	A	2022.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=92;MQ=70.12;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs199625574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199625574" target="_blank">rs199625574</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-2-15_-2-13delGTT;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=MCOLN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370589;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000302814;SAVANT_GENE=MCOLN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCOLN3" target="_blank">MCOLN3</a>;SAVANT_INFO=-/30.4kb/13/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-17_-15delGTT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCOLN3+c.-17_-15delGTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85511057">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,14:31:99:321,0,683:91	0|0:31,0:31:92:0,92,1425:91	1|0:7,23:30:99:585,0,243:91
1	85559452	.	A	G	40889.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs709762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=709762" target="_blank">rs709762</a>;ExAC.Info.AC=61485;ExAC.Info.AN=117542;ExAC.Info.AF=0.523;ExAC.Info.AC_Het=13844;ExAC.Info.AC_Hom=9262;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048+121A>G;snpeff.Amino_Acid_length=891;snpeff.Gene_Name=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294664;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294664;SAVANT_GENE=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;SAVANT_INFO=+/70.8kb/23/3.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1048+121A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR63+c.1048+121A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85559452">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,167:167:99:5631,502,0:127	1|1:0,192:192:99:6570,577,0:127	1|1:0,166:166:99:5657,498,0:127
1	85561546	.	T	C	18426.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs709766;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=709766" target="_blank">rs709766</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1174-68T>C;snpeff.Amino_Acid_length=891;snpeff.Gene_Name=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294664;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294664;SAVANT_GENE=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;SAVANT_INFO=+/70.8kb/23/3.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1174-68T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR63+c.1174-68T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85561546">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2055,159,0:127	1|1:0,78:78:99:3091,235,0:127	1|1:0,73:73:99:2859,220,0:127
1	85589939	.	GT	G	38686.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=439;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11356964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11356964" target="_blank">rs11356964</a>;ExAC.Info.AC=90194;ExAC.Info.AN=126702;ExAC.Info.AF=0.712;ExAC.Info.AC_Het=24930;ExAC.Info.AC_Hom=32620;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2112+6delT;snpeff.Amino_Acid_length=891;snpeff.Gene_Name=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294664;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2113delT;snpeff.Amino_Acid_length=891;snpeff.Gene_Name=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294664;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2113delT;snpeff.Amino_Acid_length=891;snpeff.Gene_Name=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294664;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2113delT;snpeff.Amino_Acid_length=891;snpeff.Gene_Name=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294664;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000294664;SAVANT_GENE=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;SAVANT_INFO=+/70.8kb/23/3.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2112+7delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR63+c.2112+7delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85589939">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,142:142:99:5285,428,0:127	1|1:0,163:163:99:6085,491,0:127	1|1:0,134:134:99:4972,403,0:127
1	85595645	.	C	T	30011.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1020770;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1020770" target="_blank">rs1020770</a>;ExAC.Info.AC=86603;ExAC.Info.AN=126684;ExAC.Info.AF=0.684;ExAC.Info.AC_Het=25815;ExAC.Info.AC_Hom=30310;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2410-28C>T;snpeff.Amino_Acid_length=891;snpeff.Gene_Name=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294664;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294664;SAVANT_GENE=WDR63;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR63" target="_blank">WDR63</a>;SAVANT_INFO=+/70.8kb/23/3.0kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2410-28C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR63+c.2410-28C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85595645">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3547,331,0:127	1|1:0,144:144:99:4949,433,0:127	1|1:0,120:120:99:3915,360,0:127
1	85624549	.	C	T	23854.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs709786;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=709786" target="_blank">rs709786</a>;ExAC.Info.AC=124710;ExAC.Info.AN=124776;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=65;ExAC.Info.AC_Hom=62062;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val1157Ile/c.3469G>A;snpeff.Amino_Acid_length=1194;snpeff.Gene_Name=SYDE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYDE2" target="_blank">SYDE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341460;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341460;SAVANT_GENE=SYDE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYDE2" target="_blank">SYDE2</a>;SAVANT_INFO=-/44.2kb/7/5.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.3469G>A_p.Val1157Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYDE2+c.3469G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85624549">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3127,279,0:127	1|1:0,115:115:99:3952,346,0:127	1|1:0,99:99:99:3382,297,0:127
1	85624864	.	G	A	40716.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=558;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs817412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=817412" target="_blank">rs817412</a>;ExAC.Info.AC=124228;ExAC.Info.AN=124780;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=526;ExAC.Info.AC_Hom=61787;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu1052Leu/c.3154C>T;snpeff.Amino_Acid_length=1194;snpeff.Gene_Name=SYDE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYDE2" target="_blank">SYDE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341460;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341460;SAVANT_GENE=SYDE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYDE2" target="_blank">SYDE2</a>;SAVANT_INFO=-/44.2kb/7/5.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.3154C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYDE2+c.3154C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85624864">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,175:175:99:5766,526,0:127	1|1:0,203:203:99:6643,609,0:127	1|1:0,180:180:99:6072,541,0:127
1	85648620	.	C	T	19023.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs817443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=817443" target="_blank">rs817443</a>;ExAC.Info.AC=124185;ExAC.Info.AN=124772;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=560;ExAC.Info.AC_Hom=61769;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val569Ile/c.1705G>A;snpeff.Amino_Acid_length=1194;snpeff.Gene_Name=SYDE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYDE2" target="_blank">SYDE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341460;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341460;SAVANT_GENE=SYDE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYDE2" target="_blank">SYDE2</a>;SAVANT_INFO=-/44.2kb/7/5.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1705G>A_p.Val569Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYDE2+c.1705G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85648620">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2833,241,0:127	1|1:0,90:90:99:2987,270,0:127	1|1:0,75:75:99:2734,226,0:127
1	85666156	.	T	G	7802.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=404;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12121540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12121540" target="_blank">rs12121540</a>;ExAC.Info.AC=35415;ExAC.Info.AN=124932;ExAC.Info.AF=0.283;ExAC.Info.AC_Het=24248;ExAC.Info.AC_Hom=5552;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cCg;snpeff.Amino_Acid_Change=p.Gln175Pro/c.524A>C;snpeff.Amino_Acid_length=1194;snpeff.Gene_Name=SYDE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYDE2" target="_blank">SYDE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341460;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341460;SAVANT_GENE=SYDE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYDE2" target="_blank">SYDE2</a>;SAVANT_INFO=-/44.2kb/7/5.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.524A>C_p.Gln175Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYDE2+c.524A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85666156">View</a>	GT:AD:DP:GQ:PL:TP	0|0:127,0:127:99:0,382,4333:127	0|1:90,66:156:99:1791,0,2716:127	0|1:52,69:121:99:2130,0,1438:127
1	85724328	.	C	T	5632.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4949926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4949926" target="_blank">rs4949926</a>;ExAC.Info.AC=28705;ExAC.Info.AN=126704;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=21673;ExAC.Info.AC_Hom=3513;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro118Pro/c.354G>A;snpeff.Amino_Acid_length=182;snpeff.Gene_Name=C1orf52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf52" target="_blank">C1orf52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000471115;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000471115;SAVANT_GENE=C1orf52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf52" target="_blank">C1orf52</a>;SAVANT_INFO=-/7.7kb/3/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.354G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf52+c.354G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85724328">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,249,2861:127	0|1:81,61:142:99:1633,0,2247:127	0|1:56,42:98:99:1203,0,1662:127
1	85741921	.	G	C	7597.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Lymphoma|_MALT|_somatic|_137245_(3)|_{Lymphoma|_follicular|_somatic}|_613024_(3)|_{Male_germ_cell_tumor|_somatic}|_273300|_(3)|_{Sezary_syndrome|_somatic}|_(3)|_{Mesothelioma|_somatic}|_156240_(3);dbSNP139.ID=rs2735594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2735594" target="_blank">rs2735594</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.57+58C>G;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=BCL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL10" target="_blank">BCL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CARD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58G>C;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=BCL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL10" target="_blank">BCL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CARD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58G>C;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=BCL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL10" target="_blank">BCL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370580;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271015;SAVANT_GENE=BCL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL10" target="_blank">BCL10</a>;SAVANT_INFO=-/11.8kb/4/3.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.57+58C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCL10+c.57+58C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85741921">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1155,102,0:101	1|0:40,31:71:99:828,0,1123:101	1|0:24,19:43:99:592,0,597:101
1	85742012	.	G	C	13731.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Lymphoma|_MALT|_somatic|_137245_(3)|_{Lymphoma|_follicular|_somatic}|_613024_(3)|_{Male_germ_cell_tumor|_somatic}|_273300|_(3)|_{Sezary_syndrome|_somatic}|_(3)|_{Mesothelioma|_somatic}|_156240_(3);dbSNP139.ID=rs11576939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11576939" target="_blank">rs11576939</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Advanced_germ_cell_tumors|_association_with;hgmd_2014.2.OMIM_ID=603517;hgmd_2014.2.PubMed=16229939;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16229939" target="_blank">16229939</a>;ExAC.Info.AC=34775;ExAC.Info.AN=126696;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=24463;ExAC.Info.AC_Hom=5111;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctG;snpeff.Amino_Acid_Change=p.Leu8Leu/c.24C>G;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=BCL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL10" target="_blank">BCL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271015;SAVANT_GENE=BCL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL10" target="_blank">BCL10</a>;SAVANT_INFO=-/11.8kb/4/3.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.24C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCL10+c.24C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:85742012">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2788,231,0:127	1|0:49,49:98:99:1412,0,1371:127	1|0:50,29:79:99:866,0,1466:127
1	86119898	.	A	G	1610.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2274738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274738" target="_blank">rs2274738</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1373-117T>C;snpeff.Amino_Acid_length=470;snpeff.Gene_Name=ZNHIT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNHIT6" target="_blank">ZNHIT6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370574;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370574;SAVANT_GENE=ZNHIT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNHIT6" target="_blank">ZNHIT6</a>;SAVANT_INFO=-/55.6kb/10/2.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1373-117T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNHIT6+c.1373-117T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86119898">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,3:15:76:76,0,338:75	1|0:12,14:26:99:441,0,267:75	0|0:35,0:35:99:0,105,1169:75
1	86167957	.	C	T	8412.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1764298;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1764298" target="_blank">rs1764298</a>;ExAC.Info.AC=100719;ExAC.Info.AN=126556;ExAC.Info.AF=0.796;ExAC.Info.AC_Het=18190;ExAC.Info.AC_Hom=40602;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.916-14G>A;snpeff.Amino_Acid_length=470;snpeff.Gene_Name=ZNHIT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNHIT6" target="_blank">ZNHIT6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370574;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370574;SAVANT_GENE=ZNHIT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNHIT6" target="_blank">ZNHIT6</a>;SAVANT_INFO=-/55.6kb/10/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.916-14G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNHIT6+c.916-14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86167957">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:885,78,0:119	1|1:0,50:50:99:1769,150,0:119	1|1:0,40:40:99:1400,120,0:119
1	86173298	.	C	T	7369.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1539444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1539444" target="_blank">rs1539444</a>;ExAC.Info.AC=57012;ExAC.Info.AN=123792;ExAC.Info.AF=0.461;ExAC.Info.AC_Het=28437;ExAC.Info.AC_Hom=13181;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.656+14G>A;snpeff.Amino_Acid_length=470;snpeff.Gene_Name=ZNHIT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNHIT6" target="_blank">ZNHIT6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370574;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370574;SAVANT_GENE=ZNHIT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNHIT6" target="_blank">ZNHIT6</a>;SAVANT_INFO=-/55.6kb/10/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.656+14G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNHIT6+c.656+14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86173298">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,62:119:99:1651,0,1686:127	1|0:69,56:125:99:1485,0,2062:127	0|0:104,1:105:99:0,277,3491:127
1	86202016	.	C	T	30514.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1481200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1481200" target="_blank">rs1481200</a>;ExAC.Info.AC=13896;ExAC.Info.AN=14816;ExAC.Info.AF=0.938;ExAC.Info.AC_Het=444;ExAC.Info.AC_Hom=5396;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4782+1063G>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4783C>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4783C>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4783C>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4783C>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In58/59;SAVANT_HGVS=c.4782+1063G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.4782+1063G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86202016">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:4144,379,0:127	1|1:0,149:149:99:4968,448,0:127	1|1:0,112:112:99:3670,336,0:127
1	86202102	.	C	A	3808.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12037785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12037785" target="_blank">rs12037785</a>;ExAC.Info.AC=3019;ExAC.Info.AN=17296;ExAC.Info.AF=0.175;ExAC.Info.AC_Het=2046;ExAC.Info.AC_Hom=388;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4782+977G>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4783C>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4783C>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4783C>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4783C>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In58/59;SAVANT_HGVS=c.4782+977G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.4782+977G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86202102">View</a>	GT:AD:DP:GQ:PL:TP	0|0:155,0:155:99:0,466,5304:127	0|1:80,68:148:99:1923,0,2338:127	0|0:119,0:119:99:0,358,4148:127
1	86249911	.	A	G	37665.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=453;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs313725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=313725" target="_blank">rs313725</a>;ExAC.Info.AC=116615;ExAC.Info.AN=125150;ExAC.Info.AF=0.932;ExAC.Info.AC_Het=7132;ExAC.Info.AC_Hom=54624;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4167+31T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4168A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4168A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4168A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In49/50;SAVANT_HGVS=c.4167+31T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.4167+31T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86249911">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4964,411,0:127	1|1:2,148:150:99:5300,401,0:127	1|1:1,165:166:99:6075,489,0:127
1	86252025	.	A	G	5852.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12746325;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12746325" target="_blank">rs12746325</a>;ExAC.Info.AC=48238;ExAC.Info.AN=125142;ExAC.Info.AF=0.385;ExAC.Info.AC_Het=27507;ExAC.Info.AC_Hom=10326;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4059+12T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In48/49;SAVANT_HGVS=c.4059+12T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.4059+12T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86252025">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1160,99,0:99	1|0:19,14:33:99:486,0,580:99	1|0:17,17:34:99:459,0,525:99
1	86334316	.	T	C	670.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17411495;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17411495" target="_blank">rs17411495</a>;ExAC.Info.AC=57264;ExAC.Info.AN=125064;ExAC.Info.AF=0.458;ExAC.Info.AC_Het=30209;ExAC.Info.AC_Hom=13448;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3193-7A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3193T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3193T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3193T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3193A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In36/37;SAVANT_HGVS=c.3193-7A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.3193-7A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86334316">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1464:125	0|1:32,14:46:99:354,0,1046:125	0|0:44,0:44:99:0,132,1589:125
1	86340262	.	C	A	2878.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12136023;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12136023" target="_blank">rs12136023</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3138+70G>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3139C>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3139C>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3139C>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.3138+70G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.3138+70G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86340262">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,13:13:39:394,39,0:39	1|0:15,12:27:99:328,0,480:39	1|0:15,14:29:99:387,0,505:39
1	86340880	.	A	G	14423.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1564515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1564515" target="_blank">rs1564515</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3084+80T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3085A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3085A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3085A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In34/35;SAVANT_HGVS=c.3084+80T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.3084+80T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86340880">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:3085,264,0:127	1|0:57,45:102:99:1267,0,1633:127	1|0:48,48:96:99:1347,0,1330:127
1	86340892	.	A	G	3522.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7536101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7536101" target="_blank">rs7536101</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3084+68T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3085A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3085A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3085A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In34/35;SAVANT_HGVS=c.3084+68T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.3084+68T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86340892">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,276,2905:127	0|1:42,56:98:99:1780,0,1196:127	0|0:108,0:108:99:0,324,3577:127
1	86375654	.	C	G	20598.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=550;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1502657;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1502657" target="_blank">rs1502657</a>;ExAC.Info.AC=88172;ExAC.Info.AN=125136;ExAC.Info.AF=0.705;ExAC.Info.AC_Het=25429;ExAC.Info.AC_Hom=31330;snpeff.Effect=sequence_feature[domain:Collagen-like_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2649C>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2649C>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro883Pro/c.2649G>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.2649G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.2649G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86375654">View</a>	GT:AD:DP:GQ:PL:TP	0|1:99,80:179:99:2303,0,2819:127	1|1:0,202:202:99:6876,607,0:127	0|0:169,0:169:99:0,507,5694:127
1	86435850	.	T	C	1304.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7538391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7538391" target="_blank">rs7538391</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2463+60A>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2464T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2464T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2464T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2464T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2464T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2463+60A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.2463+60A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86435850">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1596:92	0|1:22,25:47:99:671,0,685:92	0|0:44,1:45:93:0,93,1478:92
1	86453237	.	T	G	3272.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11799965;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11799965" target="_blank">rs11799965</a>;ExAC.Info.AC=31667;ExAC.Info.AN=125054;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=22811;ExAC.Info.AC_Hom=4262;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2364+47A>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2365T>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2365T>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2365T>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2365T>G;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2364+47A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.2364+47A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86453237">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,24:54:99:571,0,975:127	1|0:37,25:62:99:648,0,1128:127	0|0:62,0:62:99:0,186,2341:127
1	86482922	.	A	T	2144.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs557928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=557928" target="_blank">rs557928</a>;ExAC.Info.AC=33836;ExAC.Info.AN=124422;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=18979;ExAC.Info.AC_Hom=3967;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2257-35T>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257A>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257A>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257A>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257A>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2257-35T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.2257-35T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86482922">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2014:127	0|1:31,38:69:99:1091,0,887:127	0|0:65,0:65:99:0,195,2235:127
1	86482958	.	T	A	3135.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17128726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17128726" target="_blank">rs17128726</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2257-71A>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257T>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257T>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257T>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257T>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2257-71A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.2257-71A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86482958">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,27:38:99:747,0,229:127	1|0:29,33:62:99:939,0,814:127	0|0:47,0:47:99:0,141,1610:127
1	86487914	.	C	A	11210.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=557;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11161721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11161721" target="_blank">rs11161721</a>;ExAC.Info.AC=33115;ExAC.Info.AN=125204;ExAC.Info.AF=0.264;ExAC.Info.AC_Het=24115;ExAC.Info.AC_Hom=4462;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2256+9G>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257C>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257C>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257C>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257C>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2256+9G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.2256+9G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86487914">View</a>	GT:AD:DP:GQ:PL:TP	1|0:86,82:168:99:2052,0,2449:127	0|0:226,2:228:99:0,636,8063:127	1|0:75,86:161:99:2390,0,2133:127
1	86487981	.	G	A	24022.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs516213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=516213" target="_blank">rs516213</a>;ExAC.Info.AC=83155;ExAC.Info.AN=125124;ExAC.Info.AF=0.665;ExAC.Info.AC_Het=26156;ExAC.Info.AC_Hom=28381;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2203-5C>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2203C>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2203-5C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.2203-5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86487981">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3462,304,0:127	1|1:0,149:149:99:5216,448,0:127	1|0:52,61:113:99:1738,0,1598:127
1	86487992	.	A	AACAG	23168.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs5775882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5775882" target="_blank">rs5775882</a>;ExAC.Info.AC=82796;ExAC.Info.AN=125078;ExAC.Info.AF=0.662;ExAC.Info.AC_Het=26314;ExAC.Info.AC_Hom=27890;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2203-16_2203-17insCTGT;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2203-20_2203-17dupCTGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.2203-20_2203-17dupCTGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86487992">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:3452,234,0:127	1|1:0,106:106:99:4790,321,0:127	1|0:35,44:79:99:1711,0,1287:127
1	86512536	.	C	T	6619.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs60891279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60891279" target="_blank">rs60891279</a>;ExAC.Info.AC=21216;ExAC.Info.AN=125118;ExAC.Info.AF=0.170;ExAC.Info.AC_Het=17312;ExAC.Info.AC_Hom=1946;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg641His/c.1922G>A;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1922G>A_p.Arg641His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.1922G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86512536">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,46:101:99:1168,0,1529:127	0|0:122,1:123:99:0,330,4131:127	1|0:69,60:129:99:1595,0,1985:127
1	86557967	.	G	A	3658.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11161732;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11161732" target="_blank">rs11161732</a>;ExAC.Info.AC=44941;ExAC.Info.AN=125098;ExAC.Info.AF=0.359;ExAC.Info.AC_Het=28436;ExAC.Info.AC_Hom=8200;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro546Ser/c.1636C>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1636C>T_p.Pro546Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.1636C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86557967">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,23:41:99:593,0,514:127	0/1:26,21:47:99:586,0,754:127	0/1:25,18:43:99:515,0,739:127
1	86590915	.	G	A	40632.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=515;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2174767;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2174767" target="_blank">rs2174767</a>;ExAC.Info.AC=123798;ExAC.Info.AN=125124;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1231;ExAC.Info.AC_Hom=61129;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser368Ser/c.1104C>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1104C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.1104C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86590915">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:4845,415,0:127	1|1:0,205:205:99:7027,616,0:127	1|1:0,172:172:99:6064,517,0:127
1	86590948	.	A	G	9541.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=559;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11161746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11161746" target="_blank">rs11161746</a>;ExAC.Info.AC=20477;ExAC.Info.AN=125214;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=16551;ExAC.Info.AC_Hom=1950;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser357Ser/c.1071T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1071T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.1071T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86590948">View</a>	GT:AD:DP:GQ:PL:TP	1|0:85,63:148:99:1817,0,2501:127	0|0:228,0:228:99:0,685,7894:127	1|0:113,70:183:99:1875,0,3393:127
1	86591141	.	A	G	7878.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=519;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17128866;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17128866" target="_blank">rs17128866</a>;ExAC.Info.AC=8495;ExAC.Info.AN=125262;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=7820;ExAC.Info.AC_Hom=336;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile293Thr/c.878T>C;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.878T>C_p.Ile293Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.878T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86591141">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,423,4778:127	0|1:88,118:206:99:3958,0,2536:127	0|0:172,0:172:99:0,517,6163:127
1	86591837	.	G	A	14142.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=439;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11161747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11161747" target="_blank">rs11161747</a>;ExAC.Info.AC=87957;ExAC.Info.AN=125096;ExAC.Info.AF=0.703;ExAC.Info.AC_Het=25608;ExAC.Info.AC_Hom=30915;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala61Val/c.182C>T;snpeff.Amino_Acid_length=1714;snpeff.Gene_Name=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370571;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370571;SAVANT_GENE=COL24A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL24A1" target="_blank">COL24A1</a>;SAVANT_INFO=-/427.5kb/60/6.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.182C>T_p.Ala61Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL24A1+c.182C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86591837">View</a>	GT:AD:DP:GQ:PL:TP	0/1:77,70:147:99:1937,0,2195:127	0/1:86,75:161:99:2228,0,2532:127	0/1:50,81:131:99:2339,0,1510:127
1	86818572	.	T	C	10039.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=259;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs272496;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=272496" target="_blank">rs272496</a>;ExAC.Info.AC=87099;ExAC.Info.AN=126592;ExAC.Info.AF=0.688;ExAC.Info.AC_Het=26462;ExAC.Info.AC_Hom=29921;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu621Glu/c.1863A>G;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=ODF2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF2L" target="_blank">ODF2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317336;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359242;SAVANT_GENE=ODF2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF2L" target="_blank">ODF2L</a>;SAVANT_INFO=-/47.6kb/18/5.7kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1863A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ODF2L+c.1863A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86818572">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,36:80:99:1052,0,1274:127	1|1:0,91:91:99:3198,272,0:127	0|0:86,2:88:99:0,230,3027:127
1	86820267	.	C	T	12369.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1182098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1182098" target="_blank">rs1182098</a>;ExAC.Info.AC=88976;ExAC.Info.AN=126696;ExAC.Info.AF=0.702;ExAC.Info.AC_Het=25935;ExAC.Info.AC_Hom=31483;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu571Glu/c.1713G>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=ODF2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF2L" target="_blank">ODF2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317336;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359242;SAVANT_GENE=ODF2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF2L" target="_blank">ODF2L</a>;SAVANT_INFO=-/47.6kb/18/5.7kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1713G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ODF2L+c.1713G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86820267">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,50:122:99:1282,0,2180:127	1|1:0,117:117:99:3872,351,0:127	0|0:127,0:127:99:0,382,4615:127
1	86822231	.	A	G	7009.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs385437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=385437" target="_blank">rs385437</a>;ExAC.Info.AC=18318;ExAC.Info.AN=126702;ExAC.Info.AF=0.145;ExAC.Info.AC_Het=15322;ExAC.Info.AC_Hom=1494;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu472Leu/c.1414T>C;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=ODF2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF2L" target="_blank">ODF2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317336;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359242;SAVANT_GENE=ODF2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF2L" target="_blank">ODF2L</a>;SAVANT_INFO=-/47.6kb/18/5.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1414T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ODF2L+c.1414T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86822231">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,45:89:99:1282,0,1185:127	1|0:52,48:100:99:1374,0,1393:127	0|0:62,0:62:99:0,186,2009:127
1	86838158	.	C	T	3096.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs421105;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=421105" target="_blank">rs421105</a>;ExAC.Info.AC=84517;ExAC.Info.AN=125136;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=20216;ExAC.Info.AC_Hom=22822;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val292Val/c.876G>A;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=ODF2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF2L" target="_blank">ODF2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317336;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359242;SAVANT_GENE=ODF2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF2L" target="_blank">ODF2L</a>;SAVANT_INFO=-/47.6kb/18/5.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.876G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ODF2L+c.876G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86838158">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,5:15:99:132,0,302:77	1|1:0,45:45:99:1380,135,0:77	0|0:26,0:26:78:0,78,955:77
1	86847955	.	G	A	5772.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs272516;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=272516" target="_blank">rs272516</a>;ExAC.Info.AC=42786;ExAC.Info.AN=126660;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=27873;ExAC.Info.AC_Hom=7406;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala198Ala/c.594C>T;snpeff.Amino_Acid_length=673;snpeff.Gene_Name=ODF2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF2L" target="_blank">ODF2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317336;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359242;SAVANT_GENE=ODF2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF2L" target="_blank">ODF2L</a>;SAVANT_INFO=-/47.6kb/18/5.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.594C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ODF2L+c.594C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86847955">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,23:45:99:750,0,614:127	1|1:0,52:52:99:1896,156,0:127	0|0:54,0:54:99:0,162,1918:127
1	86891005	.	C	A	3986.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1158506;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1158506" target="_blank">rs1158506</a>;ExAC.Info.AC=75955;ExAC.Info.AN=126590;ExAC.Info.AF=0.600;ExAC.Info.AC_Het=29823;ExAC.Info.AC_Hom=22790;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.187-17C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>A;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370565;SAVANT_GENE=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;SAVANT_INFO=+/32.5kb/14/4.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.187-17C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCA2+c.187-17C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86891005">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,20:36:99:545,0,415:122	0|0:41,0:41:99:0,123,1558:122	1|1:0,44:44:99:1403,132,0:122
1	86894241	.	C	T	6380.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72720125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72720125" target="_blank">rs72720125</a>;ExAC.Info.AC=130;ExAC.Info.AN=126682;ExAC.Info.AF=1.026e-03;ExAC.Info.AC_Het=128;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr155Tyr/c.465C>T;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370565;SAVANT_GENE=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;SAVANT_INFO=+/32.5kb/14/4.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.465C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCA2+c.465C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86894241">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,59:123:99:1553,0,1823:127	1|0:59,46:105:99:1273,0,1718:127	0|0:132,0:132:99:0,397,4394:127
1	86900332	.	T	C	13618.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs17449526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17449526" target="_blank">rs17449526</a>;ExAC.Info.AC=37645;ExAC.Info.AN=126704;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=25935;ExAC.Info.AC_Hom=5850;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn292Asn/c.876T>C;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370565;SAVANT_GENE=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;SAVANT_INFO=+/32.5kb/14/4.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.876T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCA2+c.876T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86900332">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,52:110:99:1510,0,1674:127	0|0:146,0:146:99:0,438,5176:127	1|1:0,120:120:99:4250,360,0:127
1	86900372	.	C	G	14000.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17409304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17409304" target="_blank">rs17409304</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Leukemia|_risk|_association_with;hgmd_2014.2.OMIM_ID=604003;hgmd_2014.2.PubMed=16574953;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16574953" target="_blank">16574953</a>;ExAC.Info.AC=37640;ExAC.Info.AN=126702;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=25928;ExAC.Info.AC_Hom=5847;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln306Glu/c.916C>G;snpeff.Amino_Acid_length=943;snpeff.Gene_Name=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370565;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370565;SAVANT_GENE=CLCA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA2" target="_blank">CLCA2</a>;SAVANT_INFO=+/32.5kb/14/4.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.916C>G_p.Gln306Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCA2+c.916C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86900372">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,53:122:99:1537,0,1998:127	0|0:173,0:173:99:0,520,5964:127	1|1:0,122:122:99:4309,367,0:127
1	86939130	.	C	T	17014.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2145412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2145412" target="_blank">rs2145412</a>;ExAC.Info.AC=119005;ExAC.Info.AN=126698;ExAC.Info.AF=0.939;ExAC.Info.AC_Het=6575;ExAC.Info.AC_Hom=56153;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Ttt;snpeff.Amino_Acid_Change=p.Leu65Phe/c.193C>T;snpeff.Amino_Acid_length=914;snpeff.Gene_Name=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394711;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234701;SAVANT_GENE=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;SAVANT_INFO=+/31.9kb/15/3.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.193C>T_p.Leu65Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCA1+c.193C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86939130">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1734,162,0:127	1|1:0,94:94:99:3196,282,0:127	1|1:0,61:61:99:2145,186,0:127
1	86939390	.	G	A	20807.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2180762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2180762" target="_blank">rs2180762</a>;ExAC.Info.AC=120215;ExAC.Info.AN=126638;ExAC.Info.AF=0.949;ExAC.Info.AC_Het=5669;ExAC.Info.AC_Hom=56196;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.304-22G>A;snpeff.Amino_Acid_length=914;snpeff.Gene_Name=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394711;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234701;SAVANT_GENE=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;SAVANT_INFO=+/31.9kb/15/3.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.304-22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCA1+c.304-22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86939390">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2745,232,0:127	1|1:0,102:102:99:3703,307,0:127	1|1:0,78:78:99:2874,235,0:127
1	86952324	.	A	G	14511.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2734705;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2734705" target="_blank">rs2734705</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Cystic_fibrosis|_modifier_of;hgmd_2014.2.OMIM_ID=603906;hgmd_2014.2.PubMed=20179644;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20179644" target="_blank">20179644</a>;ExAC.Info.AC=109279;ExAC.Info.AN=126704;ExAC.Info.AF=0.862;ExAC.Info.AC_Het=14697;ExAC.Info.AC_Hom=47286;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1070A>G;snpeff.Amino_Acid_length=914;snpeff.Gene_Name=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394711;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1070A>G;snpeff.Amino_Acid_length=914;snpeff.Gene_Name=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394711;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1070A>G;snpeff.Amino_Acid_length=914;snpeff.Gene_Name=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394711;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1070A>G;snpeff.Amino_Acid_length=914;snpeff.Gene_Name=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394711;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn357Ser/c.1070A>G;snpeff.Amino_Acid_length=914;snpeff.Gene_Name=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394711;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234701;SAVANT_GENE=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;SAVANT_INFO=+/31.9kb/15/3.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1070A>G_p.Asn357Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCA1+c.1070A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86952324">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2170,171,0:120	1|1:0,62:62:99:2346,186,0:120	1|1:0,40:40:99:1537,120,0:120
1	86959173	.	T	C	18967.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2791494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2791494" target="_blank">rs2791494</a>;ExAC.Info.AC=106708;ExAC.Info.AN=126704;ExAC.Info.AF=0.842;ExAC.Info.AC_Het=16419;ExAC.Info.AC_Hom=45127;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met524Thr/c.1571T>C;snpeff.Amino_Acid_length=914;snpeff.Gene_Name=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394711;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234701;SAVANT_GENE=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;SAVANT_INFO=+/31.9kb/15/3.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1571T>C_p.Met524Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCA1+c.1571T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86959173">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2818,234,0:127	1|1:0,81:81:99:2928,243,0:127	1|1:0,62:62:99:2218,186,0:127
1	86965419	.	T	C	3074.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1882753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1882753" target="_blank">rs1882753</a>;ExAC.Info.AC=37764;ExAC.Info.AN=126698;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=25179;ExAC.Info.AC_Hom=6269;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr812Thr/c.2436T>C;snpeff.Amino_Acid_length=914;snpeff.Gene_Name=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394711;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234701;SAVANT_GENE=CLCA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA1" target="_blank">CLCA1</a>;SAVANT_INFO=+/31.9kb/15/3.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2436T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCA1+c.2436T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:86965419">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,2061:127	0|1:40,49:89:99:1556,0,1189:127	0|0:73,0:73:99:0,219,2608:127
1	87036746	.	C	A	32050.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs772599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=772599" target="_blank">rs772599</a>;ExAC.Info.AC=99938;ExAC.Info.AN=125100;ExAC.Info.AF=0.799;ExAC.Info.AC_Het=19115;ExAC.Info.AC_Hom=40031;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1183-14C>A;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=CLCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA4" target="_blank">CLCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370563;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1183C>A;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=CLCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA4" target="_blank">CLCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370563;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1183C>A;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=CLCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA4" target="_blank">CLCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370563;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1183C>A;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=CLCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA4" target="_blank">CLCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370563;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1183C>A;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=CLCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA4" target="_blank">CLCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370563;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370563;SAVANT_GENE=CLCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA4" target="_blank">CLCA4</a>;SAVANT_INFO=+/33.7kb/14/3.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1183-14C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCA4+c.1183-14C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:87036746">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,140:140:99:4367,420,0:127	1|1:0,169:169:99:5719,508,0:127	1|1:0,139:139:99:4496,418,0:127
1	87045896	.	TCCTACA	T	56995.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=730;MQ=71.80;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4001061;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4001061" target="_blank">rs4001061</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=90583;ExAC.Info.AN=124846;ExAC.Info.AF=0.726;ExAC.Info.AC_Het=23990;ExAC.Info.AC_Hom=32838;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.295-8811_295-8806delTGTAGG;snpeff.Gene_Name=RP4-651E10.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-651E104" target="_blank">RP4-651E104</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456587;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=cctaca/;snpeff.Amino_Acid_Change=p.Pro877_Thr878del/c.2629_2634delCCTACA;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=CLCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-651E104" target="_blank">RP4-651E104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370563;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370563;SAVANT_GENE=CLCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCA4" target="_blank">CLCA4</a>;SAVANT_INFO=+/33.7kb/14/3.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2634_2639del6_p.Thr886_Pro887del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCA4+c.2634_2639del6+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:87045896">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,193:193:99:6527,575,0:127	1|1:0,272:272:99:9124,813,0:127	1|1:0,265:265:99:9055,795,0:127
1	87458695	.	G	A	8239.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10873810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10873810" target="_blank">rs10873810</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.124+77852G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=70;snpeff.Amino_Acid_Change=c.-70G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=RP5-1052I5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370548;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370550;SAVANT_GENE=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;SAVANT_INFO=+/195.3kb/7/6.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.124+77852G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS2ST1+c.124+77852G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:87458695">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1438,132,0:119	1|0:25,24:49:99:761,0,846:119	1|1:0,40:40:99:1354,120,0:119
1	87458742	.	A	G	3240.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61771748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61771748" target="_blank">rs61771748</a>;ExAC.Info.AC=9149;ExAC.Info.AN=118128;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=5678;ExAC.Info.AC_Hom=290;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.124+77899A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=23;snpeff.Amino_Acid_Change=c.-23A>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=RP5-1052I5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370548;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370550;SAVANT_GENE=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;SAVANT_INFO=+/195.3kb/7/6.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.124+77899A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS2ST1+c.124+77899A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:87458742">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2289:127	0|1:36,51:87:99:1639,0,957:127	0|0:71,0:71:99:0,213,2406:127
1	87538182	.	TTG	T	17492.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs34124612;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34124612" target="_blank">rs34124612</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.47-434_47-433delTG;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=RP5-1052I5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370548;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125-434_125-433delTG;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125_126delTG;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125_126delTG;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125_126delTG;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125_126delTG;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125_126delTG;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125_126delTG;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125_126delTG;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370550;SAVANT_GENE=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;SAVANT_INFO=+/195.3kb/7/6.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.125-429_125-428delGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS2ST1+c.125-429_125-428delGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:87538182">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2552,178,0:127	1|0:41,41:82:99:1572,0,2188:127	1|1:0,67:67:99:3056,208,0:127
1	87538200	.	G	A	18428.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10782592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10782592" target="_blank">rs10782592</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.47-417G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=RP5-1052I5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370548;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125-417G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I52" target="_blank">RP5-1052I52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370550;SAVANT_GENE=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;SAVANT_INFO=+/195.3kb/7/6.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.125-417G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS2ST1+c.125-417G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:87538200">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2527,178,0:127	1|0:42,45:87:99:1663,0,2142:127	1|1:0,75:75:99:3261,226,0:127
1	87549858	.	A	G	8207.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2798675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2798675" target="_blank">rs2798675</a>;ExAC.Info.AC=118935;ExAC.Info.AN=126600;ExAC.Info.AF=0.939;ExAC.Info.AC_Het=6981;ExAC.Info.AC_Hom=55633;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.364-19A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.286-19A>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=RP5-1052I5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370548;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364A>G;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370550;SAVANT_GENE=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;SAVANT_INFO=+/195.3kb/7/6.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.364-19A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS2ST1+c.364-19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:87549858">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,21:21:63:848,63,0:113	1|1:0,38:38:99:1441,114,0:113	1|1:0,40:40:99:1494,120,0:113
1	87563668	.	G	A	7691.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1199677;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1199677" target="_blank">rs1199677</a>;ExAC.Info.AC=122356;ExAC.Info.AN=126694;ExAC.Info.AF=0.966;ExAC.Info.AC_Het=4101;ExAC.Info.AC_Hom=58843;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.686+50G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.608+50G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=RP5-1052I5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370548;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370550;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370550;SAVANT_GENE=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;SAVANT_INFO=+/195.3kb/7/6.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.686+50G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS2ST1+c.686+50G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:87563668">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1090,96,0:68	1|1:0,39:39:99:1396,117,0:68	1|1:0,23:23:69:860,69,0:68
1	87598117	.	T	G	7629.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6686259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6686259" target="_blank">rs6686259</a>;ExAC.Info.AC=14181;ExAC.Info.AN=21982;ExAC.Info.AF=0.645;ExAC.Info.AC_Het=2031;ExAC.Info.AC_Hom=2253;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.257+175T>G;snpeff.Gene_Name=RP5-1052I5.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000484933;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.767-1180T>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=RP5-1052I5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370548;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1" target="_blank">HS2ST1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HS2ST1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:87598117">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1406,126,0:83	1|0:22,20:42:99:541,0,725:83	1|1:0,28:28:84:1074,84,0:83
1	87599697	.	G	A	18666.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6576865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6576865" target="_blank">rs6576865</a>;ExAC.Info.AC=11510;ExAC.Info.AN=15532;ExAC.Info.AF=0.741;ExAC.Info.AC_Het=2006;ExAC.Info.AC_Hom=3497;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.713G>A;snpeff.Gene_Name=RP5-1052I5.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I51" target="_blank">RP5-1052I51</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000484933;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HS2ST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I51" target="_blank">RP5-1052I51</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.871+296G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=RP5-1052I5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I51" target="_blank">RP5-1052I51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370548;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I51" target="_blank">RP5-1052I51</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-1052I51+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:87599697">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3047,291,0:127	1|0:67,40:107:99:1126,0,2137:127	1|1:0,86:86:99:2932,258,0:127
1	87633929	.	A	G	8745.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs17129860;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17129860" target="_blank">rs17129860</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP5-1052I5.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I51" target="_blank">RP5-1052I51</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=70;snpeff.Amino_Acid_Change=c.*70A>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=RP5-1052I5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I51" target="_blank">RP5-1052I51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370548;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1052I51" target="_blank">RP5-1052I51</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-1052I51+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:87633929">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,41:82:99:1182,0,1087:127	0/1:57,49:106:99:1461,0,1581:127	0/1:48,35:83:99:893,0,1310:127
1	89150150	.	GT	G	465.34	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=27;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10713037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10713037" target="_blank">rs10713037</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.41+696delA;snpeff.Gene_Name=RP11-76N22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-76N222" target="_blank">RP11-76N222</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000458097;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=113;snpeff.Amino_Acid_Change=c.-113delT;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-76N222" target="_blank">RP11-76N222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370521;SAVANT_GENE=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;SAVANT_INFO=+/152.0kb/22/6.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-101delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKN2+c.-101delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89150150">View</a>	GT:AD:DP:GQ:PL:TP	1|0:2,4:6:35:71,0,35:6	0|0:12,2:14:5:0,5,262:6	1|0:4,3:7:43:43,0,69:6
1	89225976	.	T	C	5513.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs430600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=430600" target="_blank">rs430600</a>;ExAC.Info.AC=86635;ExAC.Info.AN=125102;ExAC.Info.AF=0.693;ExAC.Info.AC_Het=25494;ExAC.Info.AC_Hom=30532;snpeff.Effect=sequence_feature[repeat:REM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:REM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:REM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Tta/Cta;snpeff.Amino_Acid_Change=p.Leu141Leu/c.421T>C;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370521;SAVANT_GENE=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;SAVANT_INFO=+/152.0kb/22/6.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.421T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKN2+c.421T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89225976">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,44:95:99:1266,0,1274:127	0|0:130,0:130:99:0,390,4314:127	1|0:48,47:95:99:1371,0,1315:127
1	89237556	.	C	T	4086.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9651072;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9651072" target="_blank">rs9651072</a>;ExAC.Info.AC=8305;ExAC.Info.AN=125178;ExAC.Info.AF=0.066;ExAC.Info.AC_Het=7001;ExAC.Info.AC_Hom=634;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cta/Tta;snpeff.Amino_Acid_Change=p.Leu327Leu/c.979C>T;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370521;SAVANT_GENE=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;SAVANT_INFO=+/152.0kb/22/6.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.979C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKN2+c.979C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89237556">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,29:53:99:814,0,758:127	0|0:90,2:92:99:0,227,3262:127	1|0:33,27:60:99:842,0,980:127
1	89246897	.	C	T	5784.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10489887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10489887" target="_blank">rs10489887</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.986-3425C>T;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370521;SAVANT_GENE=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;SAVANT_INFO=+/152.0kb/22/6.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.986-3425C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKN2+c.986-3425C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89246897">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,47:96:99:1244,0,1299:127	0|0:77,0:77:99:0,231,2532:127	1|0:45,36:81:99:1026,0,1203:127
1	89273152	.	G	T	3478.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11809597;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11809597" target="_blank">rs11809597</a>;ExAC.Info.AC=4225;ExAC.Info.AN=125116;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=3801;ExAC.Info.AC_Hom=213;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1934+26G>T;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370521;SAVANT_GENE=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;SAVANT_INFO=+/152.0kb/22/6.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1934+26G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKN2+c.1934+26G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89273152">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,38:70:99:1145,0,929:127	0|0:73,1:74:99:0,186,2475:127	1|0:48,22:70:99:649,0,1518:127
1	89273287	.	G	A	3808.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6671949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6671949" target="_blank">rs6671949</a>;ExAC.Info.AC=4225;ExAC.Info.AN=125118;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=3797;ExAC.Info.AC_Hom=214;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys670Lys/c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370521;SAVANT_GENE=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;SAVANT_INFO=+/152.0kb/22/6.1kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2010G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKN2+c.2010G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89273287">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,25:65:99:798,0,1130:127	0|0:103,0:103:99:0,309,3547:127	1|0:51,33:84:99:891,0,1562:127
1	89294616	.	G	A	14098.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=720;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6661873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6661873" target="_blank">rs6661873</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2562+310G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2563G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2563G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2563G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2563G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2563G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2563G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2563G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2563G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370521;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370521;SAVANT_GENE=PKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKN2" target="_blank">PKN2</a>;SAVANT_INFO=+/152.0kb/22/6.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2562+310G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKN2+c.2562+310G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89294616">View</a>	GT:AD:DP:GQ:PL:TP	1|0:108,95:203:99:2527,0,3299:127	0|0:270,0:270:99:0,811,9567:127	1|0:122,125:247:99:3376,0,3598:127
1	89322982	.	G	A	31849.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2794318;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794318" target="_blank">rs2794318</a>;ExAC.Info.AC=126140;ExAC.Info.AN=126704;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=542;ExAC.Info.AC_Hom=62786;snpeff.Effect=sequence_feature[repeat:2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.724G>A;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=GTF2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTF2B" target="_blank">GTF2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370500;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.724G>A;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=GTF2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTF2B" target="_blank">GTF2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370500;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu242Leu/c.724C>T;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=GTF2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTF2B" target="_blank">GTF2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370500;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370500;SAVANT_GENE=GTF2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTF2B" target="_blank">GTF2B</a>;SAVANT_INFO=-/38.7kb/7/1.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.724C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GTF2B+c.724C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89322982">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3742,330,0:127	1|1:0,147:147:99:5048,441,0:127	1|1:0,134:134:99:4667,402,0:127
1	89415576	.	T	C	31259.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1325923;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1325923" target="_blank">rs1325923</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.955-616A>G;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=CCBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCBL2" target="_blank">CCBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260508;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260508;SAVANT_GENE=CCBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCBL2" target="_blank">CCBL2</a>;SAVANT_INFO=-/57.1kb/14/2.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.955-616A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCBL2+c.955-616A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89415576">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,135:135:99:4787,405,0:127	1|1:0,158:158:99:5761,475,0:127	1|1:0,137:137:99:4885,411,0:127
1	89426902	.	G	A	43392.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=546;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3738055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738055" target="_blank">rs3738055</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=55540;ExAC.Info.AN=126702;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=30237;ExAC.Info.AC_Hom=12645;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser245Ser/c.735C>T;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=CCBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCBL2" target="_blank">CCBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260508;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260508;SAVANT_GENE=CCBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCBL2" target="_blank">CCBL2</a>;SAVANT_INFO=-/57.1kb/14/2.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.735C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCBL2+c.735C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89426902">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,156:156:99:5448,469,0:127	1|1:0,191:191:99:6771,573,0:127	1|1:0,199:199:99:7087,598,0:127
1	89430420	.	A	G	8624.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1536259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1536259" target="_blank">rs1536259</a>;ExAC.Info.AC=52449;ExAC.Info.AN=124706;ExAC.Info.AF=0.421;ExAC.Info.AC_Het=21527;ExAC.Info.AC_Hom=8971;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.453+92T>C;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=CCBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCBL2" target="_blank">CCBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260508;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260508;SAVANT_GENE=CCBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCBL2" target="_blank">CCBL2</a>;SAVANT_INFO=-/57.1kb/14/2.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.453+92T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCBL2+c.453+92T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89430420">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1548,129,0:109	1|1:0,38:38:99:1414,114,0:109	1|1:0,37:37:99:1388,111,0:109
1	89474818	.	A	G	4786.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17433780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17433780" target="_blank">rs17433780</a>;ExAC.Info.AC=35605;ExAC.Info.AN=126680;ExAC.Info.AF=0.281;ExAC.Info.AC_Het=25282;ExAC.Info.AC_Hom=5113;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1471A>G;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1471A>G;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1471A>G;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys491Arg/c.1471T>C;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370481;SAVANT_GENE=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;SAVANT_INFO=-/16.2kb/11/3.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1471T>C_p.Cys491Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP3+c.1471T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89474818">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,20:49:99:519,0,687:125	0|0:54,0:54:99:0,162,1830:125	1|1:0,42:42:99:1436,126,0:125
1	89475135	.	C	T	10851.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=345;MQ=69.72;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10493821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10493821" target="_blank">rs10493821</a>;ExAC.Info.AC=33466;ExAC.Info.AN=126702;ExAC.Info.AF=0.264;ExAC.Info.AC_Het=23855;ExAC.Info.AC_Hom=4801;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val469Met/c.1405G>A;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370481;SAVANT_GENE=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;SAVANT_INFO=-/16.2kb/11/3.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1405G>A_p.Val469Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP3+c.1405G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89475135">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,58:113:99:1432,0,1591:127	0|0:130,0:130:99:0,390,4389:127	1|1:0,102:102:99:3366,306,0:127
1	89475230	.	T	G	8826.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=201;MQ=69.71;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4142706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4142706" target="_blank">rs4142706</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1363-53A>C;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370481;SAVANT_GENE=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;SAVANT_INFO=-/16.2kb/11/3.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1363-53A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP3+c.1363-53A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89475230">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,27:63:99:747,0,942:127	0|1:40,38:78:99:1079,0,1155:127	1|1:0,60:60:99:2137,180,0:127
1	89479063	.	G	A	8167.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs4656077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4656077" target="_blank">rs4656077</a>;ExAC.Info.AC=52952;ExAC.Info.AN=126700;ExAC.Info.AF=0.418;ExAC.Info.AC_Het=29835;ExAC.Info.AC_Hom=11514;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673G>A;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673G>A;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673G>A;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673G>A;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673G>A;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673G>A;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg225Trp/c.673C>T;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370481;SAVANT_GENE=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;SAVANT_INFO=-/16.2kb/11/3.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.673C>T_p.Arg225Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP3+c.673C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89479063">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,51:100:99:1422,0,1350:127	1|0:94,59:153:99:1616,0,2777:127	0|0:112,0:112:99:0,337,3842:127
1	89479074	.	C	T	7508.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs4656078;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4656078" target="_blank">rs4656078</a>;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg221Gln/c.662G>A;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370481;SAVANT_GENE=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;SAVANT_INFO=-/16.2kb/11/3.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.662G>A_p.Arg221Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP3+c.662G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89479074">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,44:91:99:1204,0,1263:127	1|0:92,57:149:99:1434,0,2700:127	0|0:103,0:103:99:0,309,3458:127
1	89479758	.	T	C	38421.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=591;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs3795543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795543" target="_blank">rs3795543</a>;ExAC.Info.AC=90412;ExAC.Info.AN=126690;ExAC.Info.AF=0.714;ExAC.Info.AC_Het=24637;ExAC.Info.AC_Hom=32875;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.625+8A>G;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=595;snpeff.Gene_Name=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370481;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370481;SAVANT_GENE=GBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP3" target="_blank">GBP3</a>;SAVANT_INFO=-/16.2kb/11/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.625+8A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP3+c.625+8A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89479758">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,177:177:99:5951,531,0:127	1|0:114,131:245:99:3705,0,3172:127	1|1:1,168:169:99:5879,480,0:127
1	89520574	.	C	A	15848.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=260;MQ=69.83;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10922554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10922554" target="_blank">rs10922554</a>;ExAC.Info.AC=94929;ExAC.Info.AN=126664;ExAC.Info.AF=0.749;ExAC.Info.AC_Het=22609;ExAC.Info.AC_Hom=35942;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1472-16G>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1472C>A;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1472C>A;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1472C>A;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370473;SAVANT_GENE=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;SAVANT_INFO=-/13.0kb/11/3.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1472-16G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP1+c.1472-16G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89520574">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3203,285,0:127	1|0:42,44:86:99:1301,0,1368:127	1|1:0,79:79:99:2871,238,0:127
1	89522512	.	C	T	10528.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=459;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4376712;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4376712" target="_blank">rs4376712</a>;ExAC.Info.AC=56176;ExAC.Info.AN=126612;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=29743;ExAC.Info.AC_Hom=12922;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1155+25G>A;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1156C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1156C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370473;SAVANT_GENE=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;SAVANT_INFO=-/13.0kb/11/3.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1155+25G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP1+c.1155+25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89522512">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,78:140:99:2288,0,1621:127	1|0:93,74:167:99:2051,0,2695:127	0|0:152,0:152:99:0,457,5128:127
1	89523927	.	C	T	4681.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs60070945;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60070945" target="_blank">rs60070945</a>;ExAC.Info.AC=32953;ExAC.Info.AN=126438;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=23338;ExAC.Info.AC_Hom=4515;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.632-10G>A;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.632C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370473;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370473;SAVANT_GENE=GBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1" target="_blank">GBP1</a>;SAVANT_INFO=-/13.0kb/11/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.632-10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP1+c.632-10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89523927">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,21:48:99:548,0,893:127	0|0:63,0:63:99:0,189,2378:127	1|1:0,52:52:99:1799,156,0:127
1	89579941	.	T	C	10617.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=513;MQ=69.77;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230338;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230338" target="_blank">rs2230338</a>;ExAC.Info.AC=85106;ExAC.Info.AN=126702;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=27056;ExAC.Info.AC_Hom=29002;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.907T>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.907T>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.907T>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.907T>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.907T>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.907T>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser303Gly/c.907A>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370466;SAVANT_GENE=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;SAVANT_INFO=-/18.1kb/11/2.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.907A>G_p.Ser303Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP2+c.907A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89579941">View</a>	GT:AD:DP:GQ:PL:TP	0|1:91,66:157:99:1744,0,2535:127	1|0:94,94:188:99:2653,0,2777:127	0|0:168,0:168:99:0,505,5905:127
1	89582690	.	G	C	5925.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1803632;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1803632" target="_blank">rs1803632</a>;ExAC.Info.AC=85085;ExAC.Info.AN=126700;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=27042;ExAC.Info.AC_Hom=28985;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.853G>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.853G>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.853G>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.853G>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.853G>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.853G>C;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Gca;snpeff.Amino_Acid_Change=p.Pro285Ala/c.853C>G;snpeff.Amino_Acid_length=591;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370466;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370466;SAVANT_GENE=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;SAVANT_INFO=-/18.1kb/11/2.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.853C>G_p.Pro285Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP2+c.853C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89582690">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,36:74:99:979,0,1095:127	1|0:44,45:89:99:1191,0,1319:127	0|0:66,0:66:99:0,198,2290:127
1	89599037	.	A	G	328.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=342;MQ=69.91;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;dbSNP139.ID=rs72728707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72728707" target="_blank">rs72728707</a>;ExAC.Info.AC=22538;ExAC.Info.AN=126698;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=21628;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser522Ser/c.1566T>C;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294671;SAVANT_GENE=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;SAVANT_INFO=-/44.3kb/11/2.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1566T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP7+c.1566T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89599037">View</a>	GT:AD:DP:GQ:PL:TP	0/1:105,16:121:99:236,0,3183:4	0/0:118,8:126:83:0,83,3835:4	0/0:95,0:95:99:0,286,3305:4
1	89599070	.	T	C	576.96	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=286;MQ=69.89;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs151091316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=151091316" target="_blank">rs151091316</a>;ExAC.Info.AC=5463;ExAC.Info.AN=126698;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=5042;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu511Glu/c.1533A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294671;SAVANT_GENE=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;SAVANT_INFO=-/44.3kb/11/2.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1533A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP7+c.1533A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89599070">View</a>	GT:AD:DP:GQ:PL:TP	0|1:89,14:103:99:312,0,3962:66	1|0:97,7:104:0:0,14,4620:66	0|0:79,0:79:99:0,238,3719:66
1	89599084	.	G	C	401.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=259;MQ=69.96;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs79037912;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79037912" target="_blank">rs79037912</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=2101;ExAC.Info.AN=126698;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=1922;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Caa/Gaa;snpeff.Amino_Acid_Change=p.Gln507Glu/c.1519C>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP2" target="_blank">GBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294671;SAVANT_GENE=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;SAVANT_INFO=-/44.3kb/11/2.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1519C>G_p.Gln507Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP7+c.1519C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89599084">View</a>	GT:AD:DP:GQ:PL:TP	0/1:77,11:88:99:266,0,3589:54	0/0:96,3:99:99:0,134,4845:54	0/0:72,0:72:99:0,229,3699:54
1	89618472	.	GA	G	1305.25	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10710842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10710842" target="_blank">rs10710842</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.319-13delT;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.319delA;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.319delA;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.319delA;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.319delA;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.319delA;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.319delA;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000294671;SAVANT_GENE=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;SAVANT_INFO=-/44.3kb/11/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.319-13delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP7+c.319-13delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89618472">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,12:21:99:181,0,125:16	1|0:19,19:38:99:314,0,293:16	0|0:34,4:38:16:0,16,657:16
1	89637578	.	G	A	12649.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=541;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs676913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=676913" target="_blank">rs676913</a>;ExAC.Info.AC=88417;ExAC.Info.AN=126704;ExAC.Info.AF=0.698;ExAC.Info.AC_Het=26148;ExAC.Info.AC_Hom=31117;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.41G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.41G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.41G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.41G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.41G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.41G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aTt;snpeff.Amino_Acid_Change=p.Thr14Ile/c.41C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294671;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294671;SAVANT_GENE=GBP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP7" target="_blank">GBP7</a>;SAVANT_INFO=-/44.3kb/11/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.41C>T_p.Thr14Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP7+c.41C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89637578">View</a>	GT:AD:DP:GQ:PL:TP	0|1:83,78:161:99:1971,0,2440:127	1|0:91,109:200:99:3013,0,2705:127	0|0:180,0:180:99:0,541,6275:127
1	89652071	.	T	C	4316.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=208;MQ=69.78;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs561042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=561042" target="_blank">rs561042</a>;ExAC.Info.AC=54963;ExAC.Info.AN=126650;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=32608;ExAC.Info.AC_Hom=11011;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652T>C;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652T>C;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652T>C;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu551Gly/c.1652A>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355754;SAVANT_GENE=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;SAVANT_INFO=-/17.8kb/11/6.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1652A>G_p.Glu551Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP4+c.1652A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89652071">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,19:62:99:628,0,2464:127	1|0:41,29:70:99:1094,0,2246:127	0|0:76,0:76:99:0,232,4306:127
1	89652072	.	C	T	4442.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=207;MQ=69.78;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs561037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=561037" target="_blank">rs561037</a>;ExAC.Info.AC=54961;ExAC.Info.AN=126650;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=32597;ExAC.Info.AC_Hom=11005;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1651C>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu551Lys/c.1651G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355754;SAVANT_GENE=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;SAVANT_INFO=-/17.8kb/11/6.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1651G>A_p.Glu551Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP4+c.1651G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89652072">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,18:61:99:754,0,2455:127	1|0:41,29:70:99:1094,0,2246:127	0|0:76,0:76:99:0,232,4306:127
1	89652078	.	A	T	4308.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=69.78;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs608339;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=608339" target="_blank">rs608339</a>;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645A>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645A>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645A>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttg/Atg;snpeff.Amino_Acid_Change=p.Leu549Met/c.1645T>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355754;SAVANT_GENE=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;SAVANT_INFO=-/17.8kb/11/6.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1645T>A_p.Leu549Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP4+c.1645T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89652078">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,19:64:99:704,0,2612:127	1|0:41,29:70:99:1085,0,2494:127	0|0:78,0:78:99:0,247,4753:127
1	89652087	.	C	T	4128.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=69.74;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1142890;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1142890" target="_blank">rs1142890</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=54907;ExAC.Info.AN=126624;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=32595;ExAC.Info.AC_Hom=10953;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1636C>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu546Lys/c.1636G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355754;SAVANT_GENE=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;SAVANT_INFO=-/17.8kb/11/6.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1636G>A_p.Glu546Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP4+c.1636G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89652087">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,20:69:99:686,0,3072:127	1|0:44,24:68:99:953,0,2762:127	0|0:87,0:87:99:0,262,5243:127
1	89652088	.	C	G	4425.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=221;MQ=69.74;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1142889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1142889" target="_blank">rs1142889</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=54899;ExAC.Info.AN=126624;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=32594;ExAC.Info.AC_Hom=10952;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635C>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635C>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635C>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atC;snpeff.Amino_Acid_Change=p.Met545Ile/c.1635G>C;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355754;SAVANT_GENE=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;SAVANT_INFO=-/17.8kb/11/6.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1635G>C_p.Met545Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP4+c.1635G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89652088">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,20:68:99:731,0,3027:127	1|0:45,22:67:99:1079,0,2753:127	0|0:86,0:86:99:0,268,5417:127
1	89652090	.	T	G	4173.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=226;MQ=69.74;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1142888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1142888" target="_blank">rs1142888</a>;ExAC.Info.AC=54920;ExAC.Info.AN=126624;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=32579;ExAC.Info.AC_Hom=10974;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Ctg;snpeff.Amino_Acid_Change=p.Met545Leu/c.1633A>C;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355754;SAVANT_GENE=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;SAVANT_INFO=-/17.8kb/11/6.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1633A>C_p.Met545Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP4+c.1633A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89652090">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,20:67:99:779,0,2940:127	1|0:46,26:72:99:950,0,2833:127	0|0:87,0:87:99:0,271,5533:127
1	89652094	.	G	A	4467.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=225;MQ=69.74;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1142887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1142887" target="_blank">rs1142887</a>;ExAC.Info.AC=54880;ExAC.Info.AN=126626;ExAC.Info.AF=0.433;ExAC.Info.AC_Het=32604;ExAC.Info.AC_Hom=10938;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1629G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1629G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1629G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala543Ala/c.1629C>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355754;SAVANT_GENE=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;SAVANT_INFO=-/17.8kb/11/6.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1629C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP4+c.1629C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89652094">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,21:68:99:740,0,2901:127	1|0:44,26:70:99:1031,0,2878:127	0|0:87,0:87:99:0,268,5512:127
1	89652097	.	C	T	4464.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=69.74;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1142886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1142886" target="_blank">rs1142886</a>;ExAC.Info.AC=54899;ExAC.Info.AN=126626;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=32570;ExAC.Info.AC_Hom=10977;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1626C>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1626C>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1626C>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atA;snpeff.Amino_Acid_Change=p.Met542Ile/c.1626G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355754;SAVANT_GENE=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;SAVANT_INFO=-/17.8kb/11/6.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1626G>A_p.Met542Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP4+c.1626G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89652097">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,21:68:99:731,0,2969:127	1|0:46,27:73:99:1031,0,2867:127	0|0:83,0:83:99:0,262,5402:127
1	89652102	.	A	T	4535.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=227;MQ=69.74;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs655260;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=655260" target="_blank">rs655260</a>;ExAC.Info.AC=54716;ExAC.Info.AN=126606;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=32408;ExAC.Info.AC_Hom=10972;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621A>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621A>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1621A>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Aac;snpeff.Amino_Acid_Change=p.Tyr541Asn/c.1621T>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355754;SAVANT_GENE=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;SAVANT_INFO=-/17.8kb/11/6.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1621T>A_p.Tyr541Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP4+c.1621T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89652102">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,20:69:99:689,0,2952:127	1|0:47,27:74:99:1033,0,2826:127	0|0:84,0:84:99:0,253,5240:127
1	89656974	.	G	A	2502.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61738489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61738489" target="_blank">rs61738489</a>;ExAC.Info.AC=929;ExAC.Info.AN=126700;ExAC.Info.AF=7.332e-03;ExAC.Info.AC_Het=909;ExAC.Info.AC_Hom=10;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.886G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.886G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.886G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.886G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.886G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.886G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.886G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu296Leu/c.886C>T;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355754;SAVANT_GENE=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;SAVANT_INFO=-/17.8kb/11/6.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.886C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP4+c.886C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89656974">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2239:127	0|0:80,0:80:99:0,241,3182:127	0|1:28,37:65:99:1270,0,907:127
1	89660991	.	C	G	1889.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs75750014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75750014" target="_blank">rs75750014</a>;ExAC.Info.AC=1;ExAC.Info.AN=126702;ExAC.Info.AF=7.893e-06;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Cat;snpeff.Amino_Acid_Change=p.Asp118His/c.352G>C;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355754;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355754;SAVANT_GENE=GBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP4" target="_blank">GBP4</a>;SAVANT_INFO=-/17.8kb/11/6.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.352G>C_p.Asp118His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP4+c.352G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89660991">View</a>	GT:AD:DP:GQ:PL:TP	0/1:79,18:97:99:357,0,2302:127	0/0:115,0:115:99:0,346,3923:127	0/0:100,0:100:99:0,300,3537:127
1	89845926	.	GT	G	24454.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=373;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11361992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11361992" target="_blank">rs11361992</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.626-18delT;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626delT;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626delT;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626delT;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626delT;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626delT;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GTPase_domain__Globular_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626delT;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370456;SAVANT_GENE=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;SAVANT_INFO=+/22.4kb/11/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.626-10delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP6+c.626-10delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89845926">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:3421,355,0:127	1|1:0,126:126:99:3565,377,0:127	1|1:0,129:129:99:3661,386,0:127
1	89847372	.	G	T	23241.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4658359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4658359" target="_blank">rs4658359</a>;ExAC.Info.AC=98343;ExAC.Info.AN=126702;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=21653;ExAC.Info.AC_Hom=38327;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Tct;snpeff.Amino_Acid_Change=p.Ala331Ser/c.991G>T;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370456;SAVANT_GENE=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;SAVANT_INFO=+/22.4kb/11/3.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.991G>T_p.Ala331Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP6+c.991G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89847372">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2765,264,0:127	1|1:0,93:93:99:3190,280,0:127	1|1:0,89:89:99:3091,268,0:127
1	89847411	.	C	T	24061.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4658360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4658360" target="_blank">rs4658360</a>;ExAC.Info.AC=98368;ExAC.Info.AN=126702;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=21643;ExAC.Info.AC_Hom=38348;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu344Phe/c.1030C>T;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370456;SAVANT_GENE=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;SAVANT_INFO=+/22.4kb/11/3.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1030C>T_p.Leu344Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP6+c.1030C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89847411">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2936,253,0:127	1|1:0,102:102:99:3670,307,0:127	1|1:0,93:93:99:3331,279,0:127
1	89849201	.	C	G	8807.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs928652;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=928652" target="_blank">rs928652</a>;ExAC.Info.AC=111764;ExAC.Info.AN=126704;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=12999;ExAC.Info.AC_Hom=49345;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1366-10C>G;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370456;SAVANT_GENE=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;SAVANT_INFO=+/22.4kb/11/3.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1366-10C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP6+c.1366-10C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89849201">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:966,81,0:86	1|1:0,47:47:99:1623,141,0:86	1|1:0,29:29:87:1081,87,0:86
1	89849350	.	G	A	8442.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs928653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=928653" target="_blank">rs928653</a>;ExAC.Info.AC=111689;ExAC.Info.AN=126646;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=12957;ExAC.Info.AC_Hom=49096;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1468+37G>A;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370456;SAVANT_GENE=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;SAVANT_INFO=+/22.4kb/11/3.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1468+37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP6+c.1468+37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89849350">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,16:16:48:553,48,0:95	1|1:0,32:32:96:1170,96,0:95	1|1:0,43:43:99:1647,129,0:95
1	89849574	.	G	A	67543.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=958;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs928655;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=928655" target="_blank">rs928655</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1469-78G>A;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370456;SAVANT_GENE=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;SAVANT_INFO=+/22.4kb/11/3.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1469-78G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP6+c.1469-78G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89849574">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,268:268:99:8499,805,0:127	1|1:0,351:351:99:11735,1055,0:127	1|1:0,339:339:99:11033,1018,0:127
1	89849742	.	A	T	25385.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs959460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=959460" target="_blank">rs959460</a>;ExAC.Info.AC=111748;ExAC.Info.AN=126698;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=12996;ExAC.Info.AC_Hom=49299;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gTt;snpeff.Amino_Acid_Change=p.Asp520Val/c.1559A>T;snpeff.Amino_Acid_length=633;snpeff.Gene_Name=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370456;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370456;SAVANT_GENE=GBP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP6" target="_blank">GBP6</a>;SAVANT_INFO=+/22.4kb/11/3.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1559A>T_p.Asp520Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP6+c.1559A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89849742">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2820,243,0:127	1|1:0,133:133:99:4708,400,0:127	1|1:0,89:89:99:3143,268,0:127
1	89885854	.	G	A	7561.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6673154;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6673154" target="_blank">rs6673154</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.295G>A;snpeff.Gene_Name=GBP1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1P1" target="_blank">GBP1P1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394662;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1P1" target="_blank">GBP1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89885854">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:1000,84,0:65	1|1:0,43:43:99:1449,129,0:65	1|1:0,22:22:66:761,66,0:65
1	89888585	.	C	G	59080.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=580;MQ=68.73;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4415545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4415545" target="_blank">rs4415545</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1245C>G;snpeff.Gene_Name=GBP1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1P1" target="_blank">GBP1P1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394662;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1P1" target="_blank">GBP1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89888585">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,203:203:99:9210,623,0:127	1|1:0,217:217:99:9744,656,0:127	1|1:0,160:160:99:7277,494,0:127
1	89888588	.	G	T	59365.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=588;MQ=68.76;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4506445;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4506445" target="_blank">rs4506445</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1248G>T;snpeff.Gene_Name=GBP1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1P1" target="_blank">GBP1P1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394662;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBP1P1" target="_blank">GBP1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBP1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:89888588">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,205:205:99:9250,626,0:127	1|1:0,219:219:99:9834,662,0:127	1|1:0,164:164:99:7302,497,0:127
1	90049040	.	A	G	6862.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=685;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs36084789;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36084789" target="_blank">rs36084789</a>;ExAC.Info.AC=29734;ExAC.Info.AN=126694;ExAC.Info.AF=0.235;ExAC.Info.AC_Het=21838;ExAC.Info.AC_Hom=3938;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP5-1007M22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1007M222" target="_blank">RP5-1007M222</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=LRRC8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1007M222" target="_blank">RP5-1007M222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358200;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro277Pro/c.831A>G;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=LRRC8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1007M222" target="_blank">RP5-1007M222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358200;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330947;SAVANT_GENE=LRRC8B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC8B" target="_blank">LRRC8B</a>;SAVANT_INFO=+/73.0kb/6/7.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.831A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC8B+c.831A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:90049040">View</a>	GT:AD:DP:GQ:PL:TP	0|0:195,0:195:99:0,586,6818:127	0|0:251,1:252:99:0,747,9102:127	0|1:120,118:238:99:3450,0,3782:127
1	90171835	.	C	T	14984.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6657969;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6657969" target="_blank">rs6657969</a>;ExAC.Info.AC=13721;ExAC.Info.AN=13774;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=16;ExAC.Info.AC_Hom=5800;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.138+19665C>T;snpeff.Gene_Name=RP11-302M6.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-302M64" target="_blank">RP11-302M64</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000370453;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.139-6433C>T;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=LRRC8C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-302M64" target="_blank">RP11-302M64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370454;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370454;SAVANT_GENE=LRRC8C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC8C" target="_blank">LRRC8C</a>;SAVANT_INFO=+/86.5kb/3/7.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.139-6433C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC8C+c.139-6433C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:90171835">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1974,168,0:127	1|1:0,70:70:99:2532,211,0:127	1|1:0,53:53:99:1992,159,0:127
1	90178743	.	A	G	27527.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs474536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=474536" target="_blank">rs474536</a>;ExAC.Info.AC=126109;ExAC.Info.AN=126704;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=571;ExAC.Info.AC_Hom=62749;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.138+26573A>G;snpeff.Gene_Name=RP11-302M6.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-302M64" target="_blank">RP11-302M64</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000370453;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp205Gly/c.614A>G;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=LRRC8C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-302M64" target="_blank">RP11-302M64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370454;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370454;SAVANT_GENE=LRRC8C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC8C" target="_blank">LRRC8C</a>;SAVANT_INFO=+/86.5kb/3/7.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.614A>G_p.Asp205Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC8C+c.614A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:90178743">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:4022,325,0:127	1|1:0,128:128:99:4808,385,0:127	1|1:0,82:82:99:2964,246,0:127
1	90179041	.	A	C	6346.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=760;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72712583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72712583" target="_blank">rs72712583</a>;ExAC.Info.AC=1375;ExAC.Info.AN=126704;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1349;ExAC.Info.AC_Hom=13;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.138+26871A>C;snpeff.Gene_Name=RP11-302M6.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-302M64" target="_blank">RP11-302M64</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000370453;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaA/aaC;snpeff.Amino_Acid_Change=p.Lys304Asn/c.912A>C;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=LRRC8C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-302M64" target="_blank">RP11-302M64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370454;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370454;SAVANT_GENE=LRRC8C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC8C" target="_blank">LRRC8C</a>;SAVANT_INFO=+/86.5kb/3/7.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.912A>C_p.Lys304Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC8C+c.912A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:90179041">View</a>	GT:AD:DP:GQ:PL:TP	0|0:216,0:216:99:0,649,7065:127	0|0:302,0:302:99:0,907,10134:127	0|1:132,110:242:99:3192,0,3815:127
1	90486412	.	T	G	18972.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2816881;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2816881" target="_blank">rs2816881</a>;ExAC.Info.AC=78713;ExAC.Info.AN=126696;ExAC.Info.AF=0.621;ExAC.Info.AC_Het=28220;ExAC.Info.AC_Hom=25226;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2_AKAP95-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1236T>G;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=ZNF326;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF326" target="_blank">ZNF326</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340281;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtG;snpeff.Amino_Acid_Change=p.Val412Val/c.1236T>G;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=ZNF326;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF326" target="_blank">ZNF326</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340281;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340281;SAVANT_GENE=ZNF326;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF326" target="_blank">ZNF326</a>;SAVANT_INFO=+/33.4kb/12/2.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1236T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF326+c.1236T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:90486412">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,60:130:99:1677,0,1808:127	0|1:64,76:140:99:2183,0,1646:127	1|1:0,151:151:99:5025,453,0:127
1	90493026	.	G	A	13267.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10922744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10922744" target="_blank">rs10922744</a>;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=ZNF326;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF326" target="_blank">ZNF326</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340281;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu505Glu/c.1515G>A;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=ZNF326;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF326" target="_blank">ZNF326</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340281;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340281;SAVANT_GENE=ZNF326;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF326" target="_blank">ZNF326</a>;SAVANT_INFO=+/33.4kb/12/2.7kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1515G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF326+c.1515G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:90493026">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,41:85:99:1232,0,1265:127	0|1:63,51:114:99:1476,0,1906:127	1|1:0,92:92:99:3223,276,0:127
1	90875888	.	T	C	12953.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2136093;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2136093" target="_blank">rs2136093</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2136093" target="_blank">rs2136093</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:90875888">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2032,183,0:127	1|1:0,85:85:99:2902,255,0:127	1|0:55,44:99:99:1238,0,1492:127
1	91447985	.	C	T	36297.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=532;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Myopia_21|_autosomal_dominant|_614167_(3);dbSNP139.ID=rs358691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=358691" target="_blank">rs358691</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-17-58G>A;snpeff.Amino_Acid_length=1327;snpeff.Gene_Name=ZNF644;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF644" target="_blank">ZNF644</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370440;SAVANT_GENE=ZNF644;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF644" target="_blank">ZNF644</a>;SAVANT_INFO=-/106.2kb/6/5.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-75G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF644+c.-75G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91447985">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,160:160:99:5046,481,0:127	1|1:0,216:216:99:7384,652,0:127	1|1:0,156:156:99:5487,469,0:127
1	91728053	.	G	A	16118.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs585898;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=585898" target="_blank">rs585898</a>;ExAC.Info.AC=126658;ExAC.Info.AN=126694;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=36;ExAC.Info.AC_Hom=63235;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala1357Ala/c.4071C>T;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.4071C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.4071C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91728053">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1980,171,0:127	1|1:0,73:73:99:2556,219,0:127	1|1:0,82:82:99:2814,246,0:127
1	91781413	.	T	G	3070.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs281992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=281992" target="_blank">rs281992</a>;ExAC.Info.AC=89246;ExAC.Info.AN=126646;ExAC.Info.AF=0.705;ExAC.Info.AC_Het=25597;ExAC.Info.AC_Hom=31640;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3099T>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3099T>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3099T>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3099T>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3099T>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3099T>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3099T>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3099T>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3099T>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3099T>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3099T>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atA/atC;snpeff.Amino_Acid_Change=p.Ile1033Ile/c.3099A>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.3099A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.3099A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91781413">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1807:127	0|1:29,29:58:99:842,0,859:127	0|1:33,27:60:99:713,0,927:127
1	91781644	.	C	G	6918.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11589490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11589490" target="_blank">rs11589490</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2982+14G>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.2982+14G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.2982+14G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91781644">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1987,168,0:127	1|0:37,24:61:99:685,0,1178:127	1|0:34,24:58:99:689,0,1023:127
1	91782031	.	T	C	8713.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=166;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11584478;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11584478" target="_blank">rs11584478</a>;ExAC.Info.AC=25133;ExAC.Info.AN=126656;ExAC.Info.AF=0.198;ExAC.Info.AC_Het=19199;ExAC.Info.AC_Hom=2943;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815A>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Gta;snpeff.Amino_Acid_Change=p.Ile939Val/c.2815A>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.2815A>G_p.Ile939Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.2815A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91782031">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1614,138,0:127	1|0:31,45:76:99:1475,0,771:127	1|0:24,20:44:99:600,0,690:127
1	91784887	.	G	A	23297.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=537;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10493845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10493845" target="_blank">rs10493845</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37415;ExAC.Info.AN=126700;ExAC.Info.AF=0.295;ExAC.Info.AC_Het=25692;ExAC.Info.AC_Hom=5842;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2643G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2643G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2643G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2643G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2643G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2643G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2643G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2643G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2643G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2643G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC63];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2643G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr881Thr/c.2643C>T;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2643C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.2643C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91784887">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,146:146:99:4725,438,0:127	1|0:116,87:203:99:2323,0,3149:127	1|0:100,88:188:99:2421,0,2742:127
1	91846374	.	C	A	2968.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=41;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs282033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=282033" target="_blank">rs282033</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.873+95G>T;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874C>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874C>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874C>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874C>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874C>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874C>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.873+95G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.873+95G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91846374">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:502,45,0:26	1|1:0,17:17:51:589,51,0:26	1|1:0,9:9:27:316,27,0:26
1	91850718	.	G	A	1810.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72728211;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72728211" target="_blank">rs72728211</a>;ExAC.Info.AC=1;ExAC.Info.AN=126616;ExAC.Info.AF=7.898e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.802+26C>T;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.802+26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.802+26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91850718">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2116:127	0|1:40,34:74:99:924,0,1141:127	0|0:62,0:62:99:0,186,2171:127
1	91851193	.	G	A	862.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12144808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12144808" target="_blank">rs12144808</a>;ExAC.Info.AC=10298;ExAC.Info.AN=126696;ExAC.Info.AF=0.081;ExAC.Info.AC_Het=9318;ExAC.Info.AC_Hom=485;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile231Ile/c.693C>T;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.693C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.693C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91851193">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1463:120	0|0:55,0:55:99:0,165,1935:120	0|1:21,15:36:99:450,0,583:120
1	91851253	.	T	C	11617.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs282026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=282026" target="_blank">rs282026</a>;ExAC.Info.AC=126649;ExAC.Info.AN=126684;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=35;ExAC.Info.AC_Hom=63223;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln211Gln/c.633A>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.633A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.633A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91851253">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1845,147,0:104	1|1:0,51:51:99:1924,153,0:104	1|1:0,35:35:99:1414,105,0:104
1	91859795	.	T	C	34084.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs282009;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=282009" target="_blank">rs282009</a>;ExAC.Info.AC=126644;ExAC.Info.AN=126678;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=34;ExAC.Info.AC_Hom=63240;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile117Val/c.349A>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.349A>G_p.Ile117Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.349A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91859795">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:5133,346,0:127	1|1:0,148:148:99:5883,445,0:127	1|1:0,106:106:99:4450,322,0:127
1	91859801	.	A	G	16529.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11165778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11165778" target="_blank">rs11165778</a>;ExAC.Info.AC=25722;ExAC.Info.AN=126680;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=19595;ExAC.Info.AC_Hom=3050;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Cca;snpeff.Amino_Acid_Change=p.Ser115Pro/c.343T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.343T>C_p.Ser115Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.343T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91859801">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3812,339,0:127	1|0:86,63:149:99:1825,0,2337:127	1|0:54,54:108:99:1643,0,1631:127
1	91870410	.	G	C	7352.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17131429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17131429" target="_blank">rs17131429</a>;ExAC.Info.AC=4700;ExAC.Info.AN=15806;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=2712;ExAC.Info.AC_Hom=824;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3771;snpeff.Amino_Acid_Change=c.-83C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370425;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370425;SAVANT_GENE=HFM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1" target="_blank">HFM1</a>;SAVANT_INFO=-/144.1kb/39/4.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-3771C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFM1+c.-3771C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91870410">View</a>	GT:AD:DP:GQ:PL:TP	0|0:136,0:136:99:0,408,4482:127	0|1:83,74:157:99:2155,0,2423:127	0|1:56,54:110:99:1541,0,1708:127
1	91973557	.	T	G	10118.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs553606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=553606" target="_blank">rs553606</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.199+63T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200T>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428239;SAVANT_GENE=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;SAVANT_INFO=+/24.7kb/12/3.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.199+63T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC7+c.199+63T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91973557">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1558,129,0:89	1|1:0,41:41:99:1672,123,0:89	1|1:0,30:30:90:1132,90,0:89
1	91980447	.	A	G	58024.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=742;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs483532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=483532" target="_blank">rs483532</a>;ExAC.Info.AC=98345;ExAC.Info.AN=126688;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=21759;ExAC.Info.AC_Hom=38242;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr330Thr/c.990A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234626;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428239;SAVANT_GENE=CDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC7" target="_blank">CDC7</a>;SAVANT_INFO=+/24.7kb/12/3.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.990A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC7+c.990A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:91980447">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,190:190:99:6415,571,0:127	1|1:0,331:331:99:10966,994,0:127	1|1:0,221:221:99:7482,664,0:127
1	92108274	.	TA	T	58.63	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=140;MQ=70.05;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.203delA;snpeff.Gene_Name=HSP90B3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSP90B3P" target="_blank">HSP90B3P</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415545;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSP90B3P" target="_blank">HSP90B3P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSP90B3P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92108274">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,4:35:16:0,16,717:16	0|0:52,5:57:40:0,40,1231:16	0|1:41,7:48:42:42,0,912:16
1	92108899	.	C	T	35485.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=913;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2493202;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2493202" target="_blank">rs2493202</a>;ExAC.Info.AC=98853;ExAC.Info.AN=126690;ExAC.Info.AF=0.780;ExAC.Info.AC_Het=20613;ExAC.Info.AC_Hom=39078;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.827C>T;snpeff.Gene_Name=HSP90B3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSP90B3P" target="_blank">HSP90B3P</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415545;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSP90B3P" target="_blank">HSP90B3P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSP90B3P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92108899">View</a>	GT:AD:DP:GQ:PL:TP	1|0:163,150:313:99:4009,0,4662:127	0|1:193,159:352:99:4422,0,6104:127	1|1:0,248:248:99:8275,745,0:127
1	92149139	.	C	T	2560.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1805115;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805115" target="_blank">rs1805115</a>;ExAC.Info.AC=2386;ExAC.Info.AN=29988;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=1483;ExAC.Info.AC_Hom=142;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=157;snpeff.Amino_Acid_Change=c.*157G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*157G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.*157G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92149139">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2516:127	0|0:109,0:109:99:0,328,3845:127	0|1:63,48:111:99:1299,0,1836:127
1	92155337	.	T	C	2340.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=178;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12082710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12082710" target="_blank">rs12082710</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2437+5892A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2438T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2438T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2437+5892A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.2437+5892A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92155337">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,191,1882:127	0|0:49,0:49:99:0,147,1677:127	0|1:25,40:65:99:1189,0,660:127
1	92155388	.	G	A	98.89	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2437+5841C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2438G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2438G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2437+5841C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.2437+5841C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92155388">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,4:29:13:0,13,797:13	0|1:18,8:26:68:68,0,610:13	0|0:27,2:29:66:0,66,946:13
1	92155397	.	TA	T	489.44	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=21;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2437+5831delT;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2438delA;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2438delA;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2437+5831delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.2437+5831delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92155397">View</a>	GT:AD:DP:GQ:PL:TP	0|1:4,1:5:5:5,0,64:5	1|1:1,8:9:7:130,7,0:5	0|1:1,6:7:1:41,0,1:5
1	92174260	.	A	G	62272.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=776;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs284878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=284878" target="_blank">rs284878</a>;ExAC.Info.AC=118231;ExAC.Info.AN=126704;ExAC.Info.AF=0.933;ExAC.Info.AC_Het=7559;ExAC.Info.AC_Hom=55328;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2247A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr749Thr/c.2247T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2247T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.2247T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92174260">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,245:245:99:8635,735,0:127	1|1:0,278:278:99:10019,836,0:127	1|1:0,253:253:99:9050,760,0:127
1	92177938	.	A	G	4038.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=554;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1805113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805113" target="_blank">rs1805113</a>;ExAC.Info.AC=46329;ExAC.Info.AN=126704;ExAC.Info.AF=0.366;ExAC.Info.AC_Het=27916;ExAC.Info.AC_Hom=9205;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2028A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe676Phe/c.2028T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2028T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.2028T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92177938">View</a>	GT:AD:DP:GQ:PL:TP	0|0:198,0:198:99:0,595,6477:127	0|0:201,0:201:99:0,604,6849:127	0|1:85,70:155:99:2038,0,2409:127
1	92181670	.	C	A	14763.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=483;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2029354;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2029354" target="_blank">rs2029354</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1866+123G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1866+123G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.1866+123G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92181670">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,65:139:99:2573,0,4433:127	0|0:196,0:196:99:0,614,14410:127	1|0:64,84:148:99:3382,0,4147:127
1	92181678	.	T	G	15633.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=527;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2029355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2029355" target="_blank">rs2029355</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1866+115A>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867T>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1866+115A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.1866+115A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92181678">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,73:154:99:2738,0,4587:127	0|0:208,0:208:99:0,632,14574:127	1|0:72,93:165:99:3611,0,4358:127
1	92184814	.	G	T	7400.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7524066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7524066" target="_blank">rs7524066</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1566+55C>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1566+55C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.1566+55C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92184814">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,25:66:99:583,0,1240:127	0/1:48,61:109:99:1644,0,1454:127	0/1:51,33:84:99:878,0,1502:127
1	92185657	.	C	T	11649.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1805112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805112" target="_blank">rs1805112</a>;ExAC.Info.AC=53066;ExAC.Info.AN=126704;ExAC.Info.AF=0.419;ExAC.Info.AC_Het=29997;ExAC.Info.AC_Hom=11517;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1206C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro402Pro/c.1206G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1206G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.1206G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92185657">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,31:59:99:909,0,896:127	1|1:1,92:93:99:3302,242,0:127	0|1:22,40:62:99:1278,0,642:127
1	92200218	.	T	C	9352.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2306887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306887" target="_blank">rs2306887</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.568+115A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.569T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.568+115A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.568+115A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92200218">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,49:98:99:1646,0,1480:127	0/1:84,55:139:99:1642,0,2582:127	0/1:49,46:95:99:1375,0,1533:127
1	92224347	.	G	A	8518.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=457;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11165441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11165441" target="_blank">rs11165441</a>;ExAC.Info.AC=17822;ExAC.Info.AN=126700;ExAC.Info.AF=0.141;ExAC.Info.AC_Het=14911;ExAC.Info.AC_Hom=1428;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.247-40C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247G>A;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.247-40C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.247-40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92224347">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,65:126:99:1679,0,1857:127	1|0:101,71:172:99:1961,0,2909:127	0|0:159,0:159:99:0,477,5727:127
1	92262874	.	T	C	27904.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2810904;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2810904" target="_blank">rs2810904</a>;ExAC.Info.AC=83909;ExAC.Info.AN=126698;ExAC.Info.AF=0.662;ExAC.Info.AC_Het=27581;ExAC.Info.AC_Hom=28117;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala72Ala/c.216A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212355;SAVANT_GENE=TGFBR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR3" target="_blank">TGFBR3</a>;SAVANT_INFO=-/205.9kb/17/6.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.216A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFBR3+c.216A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92262874">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,123:123:99:4356,370,0:127	1|0:76,94:170:99:2728,0,2261:127	1|1:0,105:105:99:3694,316,0:127
1	92428495	.	C	A	19528.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10783071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10783071" target="_blank">rs10783071</a>;ExAC.Info.AC=110935;ExAC.Info.AN=126662;ExAC.Info.AF=0.876;ExAC.Info.AC_Het=12177;ExAC.Info.AC_Hom=49091;snpeff.Effect=sequence_feature[domain:Bromo_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.184C>A;snpeff.Amino_Acid_length=947;snpeff.Gene_Name=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402388;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Bromo_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.184C>A;snpeff.Amino_Acid_length=947;snpeff.Gene_Name=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402388;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Bromo_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.184C>A;snpeff.Amino_Acid_length=947;snpeff.Gene_Name=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402388;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Aag;snpeff.Amino_Acid_Change=p.Gln62Lys/c.184C>A;snpeff.Amino_Acid_length=947;snpeff.Gene_Name=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402388;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362005;SAVANT_GENE=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;SAVANT_INFO=+/65.1kb/20/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.184C>A_p.Gln62Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRDT+c.184C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92428495">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2708,252,0:127	1|1:0,99:99:99:3446,298,0:127	1|1:0,74:74:99:2527,222,0:127
1	92445257	.	C	G	19454.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=592;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3088232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3088232" target="_blank">rs3088232</a>;ExAC.Info.AC=26744;ExAC.Info.AN=126702;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20266;ExAC.Info.AC_Hom=3236;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaC/aaG;snpeff.Amino_Acid_Change=p.Asn410Lys/c.1230C>G;snpeff.Amino_Acid_length=947;snpeff.Gene_Name=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402388;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362005;SAVANT_GENE=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;SAVANT_INFO=+/65.1kb/20/3.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1230C>G_p.Asn410Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRDT+c.1230C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92445257">View</a>	GT:AD:DP:GQ:PL:TP	1|0:96,78:174:99:2140,0,3012:127	0|0:238,0:238:99:0,715,8776:127	1|1:0,180:180:99:6584,541,0:127
1	92446398	.	T	A	16491.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2303967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2303967" target="_blank">rs2303967</a>;ExAC.Info.AC=96119;ExAC.Info.AN=126632;ExAC.Info.AF=0.759;ExAC.Info.AC_Het=21960;ExAC.Info.AC_Hom=36659;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1460+26T>A;snpeff.Amino_Acid_length=947;snpeff.Gene_Name=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402388;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362005;SAVANT_GENE=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;SAVANT_INFO=+/65.1kb/20/3.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1460+26T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRDT+c.1460+26T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92446398">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1579,144,0:127	1|1:0,86:86:99:2851,258,0:127	1|1:0,85:85:99:2923,256,0:127
1	92457843	.	C	T	14361.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10747493;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10747493" target="_blank">rs10747493</a>;ExAC.Info.AC=102782;ExAC.Info.AN=126634;ExAC.Info.AF=0.812;ExAC.Info.AC_Het=17932;ExAC.Info.AC_Hom=41598;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro696Leu/c.2087C>T;snpeff.Amino_Acid_length=947;snpeff.Gene_Name=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402388;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362005;SAVANT_GENE=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;SAVANT_INFO=+/65.1kb/20/3.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2087C>T_p.Pro696Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRDT+c.2087C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92457843">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2360,207,0:127	1|1:0,73:73:99:2480,219,0:127	1|1:0,67:67:99:2188,201,0:127
1	92457969	.	CAA	C	1323.11	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=52;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;dbSNP139.ID=rs369136070;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=369136070" target="_blank">rs369136070</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2115+99_2115+100delAA;snpeff.Amino_Acid_length=947;snpeff.Gene_Name=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402388;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000362005;SAVANT_GENE=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;SAVANT_INFO=+/65.1kb/20/3.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2115+115_2115+116delAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRDT+c.2115+115_2115+116delAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92457969">View</a>	GT:AD:DP:GQ:PL	./1:3,7:17:63:234,95,293	./1:1,5:15:35:266,157,269	./1:5,8:20:47:231,47,231
1	92457969	.	CAA	CA	1323.11	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=52;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2115+100delA;snpeff.Amino_Acid_length=947;snpeff.Gene_Name=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402388;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000362005;SAVANT_GENE=BRDT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRDT" target="_blank">BRDT</a>;SAVANT_INFO=+/65.1kb/20/3.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2115+116delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRDT+c.2115+116delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92457969">View</a>	GT:AD:DP:GQ:PL	./1:3,7:17:63:234,63,66	./1:1,9:15:35:266,56,35	./1:5,7:20:47:231,53,97
1	92646021	.	G	A	12206.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1483022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1483022" target="_blank">rs1483022</a>;ExAC.Info.AC=17266;ExAC.Info.AN=26842;ExAC.Info.AF=0.643;ExAC.Info.AC_Het=5261;ExAC.Info.AC_Hom=5484;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys544Lys/c.1632G>A;snpeff.Amino_Acid_length=1409;snpeff.Gene_Name=KIAA1107;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1107" target="_blank">KIAA1107</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409154;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370378;SAVANT_GENE=KIAA1107;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1107" target="_blank">KIAA1107</a>;SAVANT_INFO=+/17.7kb/9/4.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1467G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1107+c.1467G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92646021">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,41:97:99:1108,0,1904:127	1|1:0,116:116:99:4228,349,0:127	0|0:90,0:90:99:0,271,3513:127
1	92647223	.	A	G	10157.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs560389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=560389" target="_blank">rs560389</a>;ExAC.Info.AC=19144;ExAC.Info.AN=26744;ExAC.Info.AF=0.716;ExAC.Info.AC_Het=4582;ExAC.Info.AC_Hom=6550;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn945Ser/c.2834A>G;snpeff.Amino_Acid_length=1409;snpeff.Gene_Name=KIAA1107;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1107" target="_blank">KIAA1107</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409154;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370378;SAVANT_GENE=KIAA1107;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1107" target="_blank">KIAA1107</a>;SAVANT_INFO=+/17.7kb/9/4.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.2669A>G_p.Asn890Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1107+c.2669A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92647223">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,38:81:99:1260,0,1261:127	1|1:0,89:89:99:3413,267,0:127	0|0:102,0:102:99:0,307,3729:127
1	92647532	.	C	A	23713.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs565156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=565156" target="_blank">rs565156</a>;ExAC.Info.AC=26597;ExAC.Info.AN=26860;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=210;ExAC.Info.AC_Hom=12281;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aAt;snpeff.Amino_Acid_Change=p.Thr1048Asn/c.3143C>A;snpeff.Amino_Acid_length=1409;snpeff.Gene_Name=KIAA1107;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1107" target="_blank">KIAA1107</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409154;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370378;SAVANT_GENE=KIAA1107;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1107" target="_blank">KIAA1107</a>;SAVANT_INFO=+/17.7kb/9/4.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.2978C>A_p.Thr993Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1107+c.2978C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92647532">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2429,216,0:127	1|1:0,121:121:99:4187,364,0:127	1|1:0,101:101:99:3576,304,0:127
1	92711067	.	A	T	4797.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3131827;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3131827" target="_blank">rs3131827</a>;ExAC.Info.AC=66107;ExAC.Info.AN=126666;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=28011;ExAC.Info.AC_Hom=18889;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.409-30A>T;snpeff.Amino_Acid_length=180;snpeff.Gene_Name=C1orf146;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf146" target="_blank">C1orf146</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370375;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370375;SAVANT_GENE=C1orf146;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf146" target="_blank">C1orf146</a>;SAVANT_INFO=+/27.9kb/6/0.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.409-30A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf146+c.409-30A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92711067">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,16:41:99:421,0,667:127	1|1:0,45:45:99:1592,135,0:127	0|0:50,0:50:99:0,150,1782:127
1	92712266	.	C	T	12394.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Glomuvenous_malformations|_138000_(3)|Glomuvenous_malformations|_138000_(3);dbSNP139.ID=rs974924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=974924" target="_blank">rs974924</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1669-63G>A;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370360;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1669C>T;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370360;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1669C>T;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370360;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370360;SAVANT_GENE=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;SAVANT_INFO=-/52.6kb/19/2.0kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1669-63G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLMN+c.1669-63G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92712266">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1368,117,0:127	1|1:0,58:58:99:2062,174,0:127	1|1:0,64:64:99:2157,192,0:127
1	92712598	.	GAA	G	15428.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=321;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Glomuvenous_malformations|_138000_(3)|Glomuvenous_malformations|_138000_(3);dbSNP139.ID=rs35752451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35752451" target="_blank">rs35752451</a>;ExAC.Info.AC=66007;ExAC.Info.AN=126680;ExAC.Info.AF=0.521;ExAC.Info.AC_Het=28006;ExAC.Info.AC_Hom=18867;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1668+19_1668+20delTT;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370360;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1669_1670delAA;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370360;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1669_1670delAA;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370360;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370360;SAVANT_GENE=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;SAVANT_INFO=-/52.6kb/19/2.0kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1668+19_1668+20delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLMN+c.1668+19_1668+20delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92712598">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,38:103:99:1332,0,2552:127	1|1:0,107:107:99:4789,322,0:127	0|0:111,0:111:99:0,334,4904:127
1	92735359	.	T	C	16713.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Glomuvenous_malformations|_138000_(3)|Glomuvenous_malformations|_138000_(3);dbSNP139.ID=rs1487540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1487540" target="_blank">rs1487540</a>;ExAC.Info.AC=65970;ExAC.Info.AN=126564;ExAC.Info.AF=0.521;ExAC.Info.AC_Het=27263;ExAC.Info.AC_Hom=18656;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.924-26A>G;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370360;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370360;SAVANT_GENE=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;SAVANT_INFO=-/52.6kb/19/2.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.924-26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLMN+c.924-26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92735359">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,61:110:99:1928,0,1315:127	1|1:0,161:161:99:6032,484,0:127	0|0:132,0:132:99:0,397,4576:127
1	92763091	.	CA	C	115.9	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=292;MQ=70.01;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Glomuvenous_malformations|_138000_(3)|Glomuvenous_malformations|_138000_(3);dbSNP139.ID=rs372630078;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=372630078" target="_blank">rs372630078</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.40-6delT;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370360;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.40delT;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370360;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370360;SAVANT_GENE=GLMN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLMN" target="_blank">GLMN</a>;SAVANT_INFO=-/52.6kb/19/2.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.40-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLMN+c.40-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92763091">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,8:73:31:0,31,1423:5	0|1:99,23:122:74:74,0,2032:5	0|1:84,13:97:4:4,0,1814:5
1	92765848	.	A	T	5962.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Glomuvenous_malformations|_138000_(3)|Glomuvenous_malformations|_138000_(3);dbSNP139.ID=rs1542685;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1542685" target="_blank">rs1542685</a>;ExAC.Info.AC=66024;ExAC.Info.AN=126672;ExAC.Info.AF=0.521;ExAC.Info.AC_Het=27951;ExAC.Info.AC_Hom=18839;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.119+52A>T;snpeff.Amino_Acid_length=612;snpeff.Gene_Name=RPAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPAP2" target="_blank">RPAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000610020;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370343;SAVANT_GENE=RPAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPAP2" target="_blank">RPAP2</a>;SAVANT_INFO=+/89.2kb/13/3.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.119+52A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPAP2+c.119+52A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92765848">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,35:57:99:956,0,543:127	1|1:0,51:51:99:1742,153,0:127	0|0:56,0:56:99:0,168,1984:127
1	92944314	.	C	CAGAGAG	2970.25	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=50;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Neutropenia|_severe_congenital_2|_autosomal_dominant|_613107_(3)|_Neutropenia|_nonimmune_chronic_idiopathic|_of_adults|_607847_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.925-4_925-5insCTCTCT;snpeff.Amino_Acid_length=422;snpeff.Gene_Name=GFI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFI1" target="_blank">GFI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.925_926insCTCTCT;snpeff.Amino_Acid_length=422;snpeff.Gene_Name=GFI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFI1" target="_blank">GFI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370332;SAVANT_GENE=GFI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFI1" target="_blank">GFI1</a>;SAVANT_INFO=-/9.2kb/7/2.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.925-10_925-5dup6;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFI1+c.925-10_925-5dup6+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92944314">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,14:14:26:318,26,0:4	1|1:0,31:31:78:1058,78,0:4	1|1:0,5:5:2:85,2,0:4
1	92946479	.	G	A	6482.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Neutropenia|_severe_congenital_2|_autosomal_dominant|_613107_(3)|_Neutropenia|_nonimmune_chronic_idiopathic|_of_adults|_607847_(3);dbSNP139.ID=rs11164605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11164605" target="_blank">rs11164605</a>;ExAC.Info.AC=87338;ExAC.Info.AN=107090;ExAC.Info.AF=0.816;ExAC.Info.AC_Het=3138;ExAC.Info.AC_Hom=11541;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys155Cys/c.465C>T;snpeff.Amino_Acid_length=422;snpeff.Gene_Name=GFI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFI1" target="_blank">GFI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370332;SAVANT_GENE=GFI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFI1" target="_blank">GFI1</a>;SAVANT_INFO=-/9.2kb/7/2.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.465C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFI1+c.465C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92946479">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,17:17:51:532,51,0:77	1|1:0,34:34:99:1105,102,0:77	1|1:0,26:26:78:849,78,0:77
1	92979354	.	A	G	40091.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=498;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6603979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6603979" target="_blank">rs6603979</a>;ExAC.Info.AC=107782;ExAC.Info.AN=126704;ExAC.Info.AF=0.851;ExAC.Info.AC_Het=15256;ExAC.Info.AC_Hom=46244;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly775Gly/c.2325T>C;snpeff.Amino_Acid_length=821;snpeff.Gene_Name=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543509;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370331;SAVANT_GENE=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;SAVANT_INFO=-/283.7kb/18/7.4kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2292T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EVI5+c.2292T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:92979354">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,163:163:99:5886,489,0:127	1|1:0,191:191:99:6723,573,0:127	1|1:0,144:144:99:5121,433,0:127
1	93073228	.	C	A	16519.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=907;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11808092;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11808092" target="_blank">rs11808092</a>;ExAC.Info.AC=24683;ExAC.Info.AN=126678;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=18994;ExAC.Info.AC_Hom=2730;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caT;snpeff.Amino_Acid_Change=p.Gln623His/c.1869G>T;snpeff.Amino_Acid_length=821;snpeff.Gene_Name=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543509;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370331;SAVANT_GENE=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;SAVANT_INFO=-/283.7kb/18/7.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1836G>T_p.Gln612His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EVI5+c.1836G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93073228">View</a>	GT:AD:DP:GQ:PL:TP	1|0:123,125:248:99:3379,0,3280:127	0|0:341,0:341:99:0,1024,12125:127	1|0:157,161:318:99:4325,0,4310:127
1	93089823	.	T	C	64340.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=882;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7514716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7514716" target="_blank">rs7514716</a>;ExAC.Info.AC=116697;ExAC.Info.AN=126700;ExAC.Info.AF=0.921;ExAC.Info.AC_Het=9025;ExAC.Info.AC_Hom=53822;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln574Gln/c.1722A>G;snpeff.Amino_Acid_length=821;snpeff.Gene_Name=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543509;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370331;SAVANT_GENE=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;SAVANT_INFO=-/283.7kb/18/7.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1689A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EVI5+c.1689A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93089823">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,243:243:99:8321,730,0:127	1|1:0,324:324:99:10874,973,0:127	1|1:0,315:315:99:10542,946,0:127
1	93128854	.	A	G	8936.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10747450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10747450" target="_blank">rs10747450</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1377+123T>C;snpeff.Amino_Acid_length=821;snpeff.Gene_Name=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543509;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370331;SAVANT_GENE=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;SAVANT_INFO=-/283.7kb/18/7.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1344+2642T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EVI5+c.1344+2642T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93128854">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:991,84,0:127	1|1:0,46:46:99:1601,138,0:127	1|1:0,44:44:99:1596,132,0:127
1	93160902	.	T	C	55898.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=697;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2391199;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2391199" target="_blank">rs2391199</a>;ExAC.Info.AC=116701;ExAC.Info.AN=126698;ExAC.Info.AF=0.921;ExAC.Info.AC_Het=9018;ExAC.Info.AC_Hom=53783;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile336Val/c.1006A>G;snpeff.Amino_Acid_length=821;snpeff.Gene_Name=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543509;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370331;SAVANT_GENE=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;SAVANT_INFO=-/283.7kb/18/7.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1006A>G_p.Ile336Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EVI5+c.1006A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93160902">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,199:199:99:7221,601,0:127	1|1:0,292:292:99:10548,878,0:127	1|1:0,206:206:99:7819,619,0:127
1	93163385	.	A	G	10218.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7418336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7418336" target="_blank">rs7418336</a>;ExAC.Info.AC=86399;ExAC.Info.AN=126666;ExAC.Info.AF=0.682;ExAC.Info.AC_Het=26043;ExAC.Info.AC_Hom=29996;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.897+32T>C;snpeff.Amino_Acid_length=821;snpeff.Gene_Name=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543509;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370331;SAVANT_GENE=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;SAVANT_INFO=-/283.7kb/18/7.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.897+32T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EVI5+c.897+32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93163385">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,32:63:99:846,0,876:127	1|1:0,89:89:99:2977,267,0:127	0|1:58,36:94:99:986,0,1708:127
1	93163633	.	C	T	28369.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1017008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1017008" target="_blank">rs1017008</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.772-91G>A;snpeff.Amino_Acid_length=821;snpeff.Gene_Name=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543509;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370331;SAVANT_GENE=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;SAVANT_INFO=-/283.7kb/18/7.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.772-91G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EVI5+c.772-91G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93163633">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4187,400,0:127	1|1:0,166:166:99:5440,498,0:127	1|1:0,128:128:99:4345,384,0:127
1	93167854	.	A	G	33370.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10218670;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10218670" target="_blank">rs10218670</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.697-82T>C;snpeff.Amino_Acid_length=821;snpeff.Gene_Name=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543509;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370331;SAVANT_GENE=EVI5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EVI5" target="_blank">EVI5</a>;SAVANT_INFO=-/283.7kb/18/7.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.697-82T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EVI5+c.697-82T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93167854">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4857,387,0:127	1|1:0,149:149:99:5855,448,0:127	1|1:0,149:149:99:5780,448,0:127
1	93306317	.	G	A	17119.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Diamond-Blackfan_anemia_6|_612561_(3)|Diamond-Blackfan_anemia_6|_612561_(3)|Diamond-Blackfan_anemia_6|_612561_(3);dbSNP139.ID=rs10874744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10874744" target="_blank">rs10874744</a>;ExAC.Info.AC=83125;ExAC.Info.AN=124472;ExAC.Info.AF=0.668;ExAC.Info.AC_Het=24305;ExAC.Info.AC_Hom=28170;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.42G>A;snpeff.Gene_Name=SNORA66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORA66" target="_blank">SNORA66</a>;snpeff.Transcript_BioType=snoRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000384792;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.794+121G>A;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=RPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORA66" target="_blank">SNORA66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370321;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370321;SAVANT_GENE=RPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL5" target="_blank">RPL5</a>;SAVANT_INFO=+/9.9kb/8/1.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.794+121G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPL5+c.794+121G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93306317">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,62:108:99:1831,0,1458:127	1|1:0,135:135:99:4637,406,0:127	0|1:71,47:118:99:1286,0,2126:127
1	93545157	.	G	A	15148.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2815419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2815419" target="_blank">rs2815419</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5+69G>A;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370298;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370298;SAVANT_GENE=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;SAVANT_INFO=+/59.8kb/15/4.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.5+69G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTF2+c.5+69G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93545157">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2386,207,0:127	1|1:0,83:83:99:2849,249,0:127	1|0:33,27:60:99:762,0,965:127
1	93580581	.	G	C	18112.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2815427;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2815427" target="_blank">rs2815427</a>;ExAC.Info.AC=126651;ExAC.Info.AN=126700;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=47;ExAC.Info.AC_Hom=63244;snpeff.Effect=sequence_feature[zinc_finger_region:PHD-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.419G>C;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370298;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:PHD-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.419G>C;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370298;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tCc;snpeff.Amino_Acid_Change=p.Cys140Ser/c.419G>C;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370298;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370298;SAVANT_GENE=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;SAVANT_INFO=+/59.8kb/15/4.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.419G>C_p.Cys140Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTF2+c.419G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93580581">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2560,222,0:127	1|1:0,81:81:99:2877,243,0:127	1|1:0,69:69:99:2475,207,0:127
1	93581024	.	T	C	23056.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2295423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295423" target="_blank">rs2295423</a>;ExAC.Info.AC=74720;ExAC.Info.AN=126638;ExAC.Info.AF=0.590;ExAC.Info.AC_Het=27865;ExAC.Info.AC_Hom=23098;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.484-3T>C;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370298;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.484T>C;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370298;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370298;SAVANT_GENE=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;SAVANT_INFO=+/59.8kb/15/4.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.484-3T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTF2+c.484-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93581024">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,121:121:99:4488,364,0:127	1|0:103,89:192:99:2699,0,2898:127	1|0:82,77:159:99:2339,0,2133:127
1	93592692	.	A	T	924.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs489183;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=489183" target="_blank">rs489183</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.922-97A>T;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370298;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370298;SAVANT_GENE=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;SAVANT_INFO=+/59.8kb/15/4.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.922-97A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTF2+c.922-97A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93592692">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,1228:116	0|1:51,18:69:99:481,0,1454:116	0|0:43,0:43:99:0,129,1457:116
1	93602194	.	C	T	18020.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2281524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281524" target="_blank">rs2281524</a>;ExAC.Info.AC=109067;ExAC.Info.AN=126554;ExAC.Info.AF=0.862;ExAC.Info.AC_Het=13655;ExAC.Info.AC_Hom=46054;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1425-33C>T;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370298;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370298;SAVANT_GENE=MTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTF2" target="_blank">MTF2</a>;SAVANT_INFO=+/59.8kb/15/4.1kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1425-33C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTF2+c.1425-33C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93602194">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2600,243,0:127	1|0:47,62:109:99:1886,0,1399:127	1|1:0,83:83:99:2767,249,0:127
1	93620393	.	G	A	25564.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=597;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1060622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1060622" target="_blank">rs1060622</a>;ExAC.Info.AC=74436;ExAC.Info.AN=126704;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=27945;ExAC.Info.AC_Hom=23242;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=TMED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMED5" target="_blank">TMED5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370282;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=TMED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMED5" target="_blank">TMED5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370282;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=TMED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMED5" target="_blank">TMED5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370282;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.524G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=TMED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMED5" target="_blank">TMED5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370282;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aTt;snpeff.Amino_Acid_Change=p.Thr175Ile/c.524C>T;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=TMED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMED5" target="_blank">TMED5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370282;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370282;SAVANT_GENE=TMED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMED5" target="_blank">TMED5</a>;SAVANT_INFO=-/31.0kb/4/6.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.524C>T_p.Thr175Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMED5+c.524C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93620393">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,196:196:99:6431,589,0:127	1|0:102,98:200:99:2694,0,3109:127	1|0:100,101:201:99:2558,0,2662:127
1	93646207	.	T	C	16432.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2297707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297707" target="_blank">rs2297707</a>;ExAC.Info.AC=73592;ExAC.Info.AN=121890;ExAC.Info.AF=0.604;ExAC.Info.AC_Het=24385;ExAC.Info.AC_Hom=21180;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=408;snpeff.Amino_Acid_Change=c.-408A>G;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=TMED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370282;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370282;SAVANT_GENE=TMED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMED5" target="_blank">TMED5</a>;SAVANT_INFO=-/31.0kb/4/6.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-408A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMED5+c.-408A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93646207">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2945,234,0:127	1|0:63,40:103:99:1258,0,1930:127	1|0:45,42:87:99:1393,0,1332:127
1	93646418	.	C	T	24387.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10874763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10874763" target="_blank">rs10874763</a>;ExAC.Info.AC=28100;ExAC.Info.AN=125160;ExAC.Info.AF=0.225;ExAC.Info.AC_Het=19592;ExAC.Info.AC_Hom=3956;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu46Phe/c.136C>T;snpeff.Amino_Acid_length=1507;snpeff.Gene_Name=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370276;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000370276;SAVANT_GENE=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;SAVANT_INFO=+/98.0kb/29/4.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.138C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC18+c.138C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93646418">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,144:144:99:4723,432,0:127	1|0:96,63:159:99:1597,0,2910:127	1|0:63,80:143:99:2183,0,1834:127
1	93672688	.	C	T	1140.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2783499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2783499" target="_blank">rs2783499</a>;ExAC.Info.AC=25877;ExAC.Info.AN=125052;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=19365;ExAC.Info.AC_Hom=2962;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn367Asn/c.1101C>T;snpeff.Amino_Acid_length=1507;snpeff.Gene_Name=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370276;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000370276;SAVANT_GENE=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;SAVANT_INFO=+/98.0kb/29/4.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1103C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC18+c.1103C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93672688">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1443:122	0|0:47,0:47:99:0,141,1770:122	0|1:22,20:42:99:589,0,599:122
1	93672723	.	A	C	11148.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2815413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2815413" target="_blank">rs2815413</a>;ExAC.Info.AC=102947;ExAC.Info.AN=125094;ExAC.Info.AF=0.823;ExAC.Info.AC_Het=15563;ExAC.Info.AC_Hom=43388;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aCt;snpeff.Amino_Acid_Change=p.Asn379Thr/c.1136A>C;snpeff.Amino_Acid_length=1507;snpeff.Gene_Name=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370276;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000370276;SAVANT_GENE=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;SAVANT_INFO=+/98.0kb/29/4.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1138A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC18+c.1138A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93672723">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2087,189,0:127	1|0:43,35:78:99:973,0,1127:127	1|1:1,51:52:99:1715,146,0:127
1	93711782	.	T	A	22788.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=489;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3754186;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3754186" target="_blank">rs3754186</a>;ExAC.Info.AC=63309;ExAC.Info.AN=125112;ExAC.Info.AF=0.506;ExAC.Info.AC_Het=28851;ExAC.Info.AC_Hom=17119;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3237+21T>A;snpeff.Amino_Acid_length=1507;snpeff.Gene_Name=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370276;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000370276;SAVANT_GENE=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;SAVANT_INFO=+/98.0kb/29/4.8kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3239+21T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC18+c.3239+21T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93711782">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,158:158:99:5316,474,0:127	1|0:101,88:189:99:2405,0,2950:127	1|0:65,77:142:99:2128,0,1960:127
1	93720070	.	C	G	622.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12030843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12030843" target="_blank">rs12030843</a>;ExAC.Info.AC=26145;ExAC.Info.AN=125104;ExAC.Info.AF=0.209;ExAC.Info.AC_Het=19743;ExAC.Info.AC_Hom=3165;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Gtt;snpeff.Amino_Acid_Change=p.Leu1133Val/c.3397C>G;snpeff.Amino_Acid_length=1507;snpeff.Gene_Name=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370276;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000370276;SAVANT_GENE=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;SAVANT_INFO=+/98.0kb/29/4.8kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.3399C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC18+c.3399C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93720070">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1571:120	0|0:58,0:58:99:0,174,2061:120	0|1:25,12:37:99:330,0,853:120
1	93744055	.	G	A	3246.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10874767;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10874767" target="_blank">rs10874767</a>;ExAC.Info.AC=18581;ExAC.Info.AN=125222;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=14988;ExAC.Info.AC_Hom=1746;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP4-717I23.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-717I233" target="_blank">RP4-717I233</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=21;snpeff.Amino_Acid_Change=c.*21G>A;snpeff.Amino_Acid_length=1507;snpeff.Gene_Name=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-717I233" target="_blank">RP4-717I233</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370276;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000370276;SAVANT_GENE=CCDC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC18" target="_blank">CCDC18</a>;SAVANT_INFO=+/98.0kb/29/4.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*21G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC18+c.*21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93744055">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2364:127	0|1:51,64:115:99:1642,0,1379:127	0|0:79,0:79:99:0,237,2680:127
1	93826178	.	A	T	791.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3088371;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3088371" target="_blank">rs3088371</a>;ExAC.Info.AC=11603;ExAC.Info.AN=126704;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=10411;ExAC.Info.AC_Hom=578;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaA/gaT;snpeff.Amino_Acid_Change=p.Glu171Asp/c.513A>T;snpeff.Amino_Acid_length=176;snpeff.Gene_Name=DR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DR1" target="_blank">DR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370267;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370272;SAVANT_GENE=DR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DR1" target="_blank">DR1</a>;SAVANT_INFO=+/16.7kb/3/3.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.513A>T_p.Glu171Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DR1+c.513A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:93826178">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1702:127	0|0:65,0:65:99:0,196,2521:127	0|1:23,13:36:99:419,0,789:127
1	94048485	.	C	G	4201.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12760294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12760294" target="_blank">rs12760294</a>;ExAC.Info.AC=2153;ExAC.Info.AN=126596;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=2056;ExAC.Info.AC_Hom=35;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcC;snpeff.Amino_Acid_Change=p.Ser353Ser/c.1059G>C;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=BCAR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAR3" target="_blank">BCAR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370243;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370244;SAVANT_GENE=BCAR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAR3" target="_blank">BCAR3</a>;SAVANT_INFO=-/285.4kb/14/3.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1059G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCAR3+c.1059G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94048485">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,26:58:99:698,0,857:127	0|0:58,0:58:99:0,174,1993:127	1|0:18,29:47:99:831,0,493:127
1	94312482	.	T	TC	59180.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=580;MQ=69.82;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5776191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5776191" target="_blank">rs5776191</a>;ExAC.Info.AC=114045;ExAC.Info.AN=114072;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=24606;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=BCAR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAR3" target="_blank">BCAR3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370244;SAVANT_GENE=BCAR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAR3" target="_blank">BCAR3</a>;SAVANT_INFO=-/285.4kb/14/3.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-171997dupG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCAR3+c.-171997dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94312482">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,187:187:99:6988,567,0:127	1|1:0,205:205:99:7574,618,0:127	1|1:0,188:188:99:6996,568,0:127
1	94312528	.	G	GC	54952.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=471;MQ=69.43;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs147446599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147446599" target="_blank">rs147446599</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=BCAR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAR3" target="_blank">BCAR3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370244;SAVANT_GENE=BCAR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAR3" target="_blank">BCAR3</a>;SAVANT_INFO=-/285.4kb/14/3.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-172043dupG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCAR3+c.-172043dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94312528">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,153:153:99:6696,468,0:127	1|1:0,170:170:99:7291,511,0:127	1|1:0,148:148:99:6637,456,0:127
1	94312533	.	G	GC	52805.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=428;MQ=69.34;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs202198870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202198870" target="_blank">rs202198870</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=BCAR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAR3" target="_blank">BCAR3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370244;SAVANT_GENE=BCAR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAR3" target="_blank">BCAR3</a>;SAVANT_INFO=-/285.4kb/14/3.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-172048dupG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCAR3+c.-172048dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94312533">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:6486,436,0:127	1|1:0,151:151:99:6981,470,0:127	1|1:0,139:139:99:6449,433,0:127
1	94341267	.	A	G	32868.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=471;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2273165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273165" target="_blank">rs2273165</a>;ExAC.Info.AC=58700;ExAC.Info.AN=124816;ExAC.Info.AF=0.470;ExAC.Info.AC_Het=30381;ExAC.Info.AC_Hom=14043;snpeff.Effect=sequence_feature[region_of_interest:TdBR_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1740A>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436063;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:TdBR_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1740A>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436063;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:TdBR_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1740A>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436063;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe580Phe/c.1740T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436063;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000436063;SAVANT_GENE=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;SAVANT_INFO=-/11.4kb/7/4.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1740T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNTTIP2+c.1740T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94341267">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,142:142:99:5089,427,0:127	1|0:73,85:158:99:2408,0,1942:127	1|1:0,171:171:99:6004,514,0:127
1	94342061	.	C	T	17329.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=790;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41292661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41292661" target="_blank">rs41292661</a>;ExAC.Info.AC=2360;ExAC.Info.AN=125026;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2299;ExAC.Info.AC_Hom=30;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gAa;snpeff.Amino_Acid_Change=p.Gly477Glu/c.1430G>A;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436063;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000436063;SAVANT_GENE=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;SAVANT_INFO=-/11.4kb/7/4.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1430G>A_p.Gly477Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNTTIP2+c.1430G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94342061">View</a>	GT:AD:DP:GQ:PL:TP	0|1:121,123:244:99:3371,0,3648:127	1|0:153,151:304:99:4425,0,4149:127	0|0:242,0:242:99:0,727,8888:127
1	94342564	.	C	A	22252.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=467;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3747965;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747965" target="_blank">rs3747965</a>;ExAC.Info.AC=44194;ExAC.Info.AN=124792;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=27076;ExAC.Info.AC_Hom=8215;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaT;snpeff.Amino_Acid_Change=p.Glu309Asp/c.927G>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436063;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000436063;SAVANT_GENE=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;SAVANT_INFO=-/11.4kb/7/4.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.927G>T_p.Glu309Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNTTIP2+c.927G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94342564">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,147:147:99:5147,442,0:127	1|0:88,88:176:99:2556,0,2867:127	1|0:73,71:144:99:2105,0,2447:127
1	94343023	.	A	G	35746.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=742;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2391322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2391322" target="_blank">rs2391322</a>;ExAC.Info.AC=48916;ExAC.Info.AN=124810;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=28940;ExAC.Info.AC_Hom=9968;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro156Pro/c.468T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436063;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000436063;SAVANT_GENE=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;SAVANT_INFO=-/11.4kb/7/4.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.468T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNTTIP2+c.468T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94343023">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,238:240:99:8393,672,0:127	1|0:130,116:246:99:3576,0,3904:127	1|0:134,122:256:99:3586,0,3850:127
1	94343233	.	T	C	37390.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3789457;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3789457" target="_blank">rs3789457</a>;ExAC.Info.AC=89377;ExAC.Info.AN=124840;ExAC.Info.AF=0.716;ExAC.Info.AC_Het=24482;ExAC.Info.AC_Hom=32410;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu86Glu/c.258A>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436063;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000436063;SAVANT_GENE=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;SAVANT_INFO=-/11.4kb/7/4.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.258A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNTTIP2+c.258A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94343233">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:4265,352,0:127	1|1:0,171:171:99:6298,514,0:127	1|1:0,145:145:99:5316,436,0:127
1	94344716	.	C	T	35293.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=722;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2235971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2235971" target="_blank">rs2235971</a>;ExAC.Info.AC=44480;ExAC.Info.AN=124886;ExAC.Info.AF=0.356;ExAC.Info.AC_Het=27251;ExAC.Info.AC_Hom=8478;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.-12G>A;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436063;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000436063;SAVANT_GENE=DNTTIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTTIP2" target="_blank">DNTTIP2</a>;SAVANT_INFO=-/11.4kb/7/4.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNTTIP2+c.-12G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94344716">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,200:200:99:6453,600,0:127	1|0:134,120:254:99:3334,0,3918:127	1|0:143,125:268:99:3295,0,3964:127
1	94367097	.	G	A	11036.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=489;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7515191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7515191" target="_blank">rs7515191</a>;ExAC.Info.AC=45870;ExAC.Info.AN=126638;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=27143;ExAC.Info.AC_Hom=9214;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.277+44C>T;snpeff.Amino_Acid_length=274;snpeff.Gene_Name=GCLM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCLM" target="_blank">GCLM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370238;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370238;SAVANT_GENE=GCLM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCLM" target="_blank">GCLM</a>;SAVANT_INFO=-/24.2kb/7/4.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.277+44C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GCLM+c.277+44C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94367097">View</a>	GT:AD:DP:GQ:PL:TP	0|0:152,0:152:99:0,456,4930:127	0|1:92,104:196:99:3076,0,2498:127	0|1:54,87:141:99:2462,0,1447:127
1	94463366	.	G	C	16390.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=717;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs7518454;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7518454" target="_blank">rs7518454</a>;ExAC.Info.AC=8431;ExAC.Info.AN=126506;ExAC.Info.AF=0.067;ExAC.Info.AC_Het=7425;ExAC.Info.AC_Hom=414;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6729+51C>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6730G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6730G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6730G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6730G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6730G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6730G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6730G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6730G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6730G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6730G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6730G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In48/49;SAVANT_HGVS=c.6729+51C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.6729+51C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94463366">View</a>	GT:AD:DP:GQ:PL:TP	0|1:107,117:224:99:3469,0,3222:127	1|0:124,129:253:99:3858,0,3754:127	0|0:240,0:240:99:0,721,8567:127
1	94466659	.	A	G	7102.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs1801555;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801555" target="_blank">rs1801555</a>;ExAC.Info.AC=21122;ExAC.Info.AN=126700;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=14605;ExAC.Info.AC_Hom=3230;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000085803;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp2095Asp/c.6285T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6285T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=Ex46;SAVANT_HGVS=c.6285T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.6285T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94466659">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000085803" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:34,46:80:99:1440,0,941:127	1|0:63,45:108:99:1295,0,1725:127	0|0:95,0:95:99:0,285,3346:127
1	94467142	.	T	C	2080.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs202105788;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202105788" target="_blank">rs202105788</a>;ExAC.Info.AC=177;ExAC.Info.AN=33872;ExAC.Info.AF=5.226e-03;ExAC.Info.AC_Het=125;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6282+272A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In45/46;SAVANT_HGVS=c.6282+272A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.6282+272A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94467142">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,114,2104:113	0|1:23,27:50:99:1059,0,1137:113	0|0:44,0:44:99:0,144,2361:113
1	94467143	.	C	T	2080.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs115600819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115600819" target="_blank">rs115600819</a>;ExAC.Info.AC=177;ExAC.Info.AN=34144;ExAC.Info.AF=5.184e-03;ExAC.Info.AC_Het=126;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6282+271G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6283C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In45/46;SAVANT_HGVS=c.6282+271G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.6282+271G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94467143">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,2104:113	0|1:23,27:50:99:1059,0,1137:113	0|0:48,0:48:99:0,144,2361:113
1	94471075	.	A	G	56427.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=785;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs1762114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1762114" target="_blank">rs1762114</a>;ExAC.Info.AC=112792;ExAC.Info.AN=126704;ExAC.Info.AF=0.890;ExAC.Info.AC_Het=9908;ExAC.Info.AC_Hom=51433;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000123433;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6069A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile2023Ile/c.6069T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=Ex44;SAVANT_HGVS=c.6069T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.6069T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94471075">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000123433" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,236:236:99:7795,709,0:127	1|1:1,307:308:99:9802,887,0:127	1|1:0,241:241:99:8190,724,0:127
1	94471154	.	C	T	16117.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=431;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs4147863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4147863" target="_blank">rs4147863</a>;ExAC.Info.AC=20238;ExAC.Info.AN=126702;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=16708;ExAC.Info.AC_Hom=1736;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000085783;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6006-16G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In43/44;SAVANT_HGVS=c.6006-16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.6006-16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94471154">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000085783" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:50,57:107:99:1616,0,1602:127	1|1:0,180:180:99:6197,541,0:127	0|0:144,0:144:99:0,433,5560:127
1	94473845	.	T	C	12758.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs2275029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275029" target="_blank">rs2275029</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=22202;ExAC.Info.AN=126704;ExAC.Info.AF=0.175;ExAC.Info.AC_Het=18028;ExAC.Info.AC_Hom=2070;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000123432;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5844T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro1948Pro/c.5844A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.5844A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.5844A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94473845">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000123432" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:51,42:93:99:1568,0,2035:127	1|1:0,83:83:99:3508,250,0:127	0|0:107,0:107:99:0,334,5032:127
1	94473864	.	C	T	12105.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs1800739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800739" target="_blank">rs1800739</a>;ExAC.Info.AC=22427;ExAC.Info.AN=126704;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=18149;ExAC.Info.AC_Hom=2117;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000085763;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5836-11G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" 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target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.5836-11G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.5836-11G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94473864">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000085763" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:46,40:86:99:1468,0,1932:127	1|1:0,77:77:99:3384,238,0:127	0|0:116,0:116:99:0,358,5328:127
1	94473896	.	G	T	7126.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs2275031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275031" target="_blank">rs2275031</a>;ExAC.Info.AC=22129;ExAC.Info.AN=126704;ExAC.Info.AF=0.175;ExAC.Info.AC_Het=17981;ExAC.Info.AC_Hom=1982;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5836-43C>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" 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target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5836G>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.5836-43C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.5836-43C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94473896">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,39:78:99:906,0,1090:127	1|1:0,67:67:99:2206,201,0:127	0|0:102,0:102:99:0,306,3365:127
1	94474328	.	T	C	25854.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=677;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs4147857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4147857" target="_blank">rs4147857</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=23892;ExAC.Info.AN=126704;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=19074;ExAC.Info.AC_Hom=2409;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000085761;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5814T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttA/ttG;snpeff.Amino_Acid_Change=p.Leu1938Leu/c.5814A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=Ex41;SAVANT_HGVS=c.5814A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.5814A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94474328">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000085761" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:129,86:215:99:2402,0,3599:127	1|1:0,249:249:99:8790,748,0:127	0|0:213,0:213:99:0,640,6963:127
1	94474452	.	T	G	9760.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs4147856;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4147856" target="_blank">rs4147856</a>;ExAC.Info.AC=23894;ExAC.Info.AN=126704;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=19072;ExAC.Info.AC_Hom=2401;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000085758;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5715-25A>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715T>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715T>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715T>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715T>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715T>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715T>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715T>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715T>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715T>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715T>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715T>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In40/41;SAVANT_HGVS=c.5715-25A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.5715-25A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94474452">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000085758" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	0|1:41,37:78:99:1165,0,1223:127	1|1:0,87:87:99:3241,262,0:127	0|0:64,0:64:99:0,192,2325:127
1	94476203	.	CT	C	11578.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=341;MQ=70.05;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs112614086;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112614086" target="_blank">rs112614086</a>;ExAC.Info.AC=19288;ExAC.Info.AN=116594;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=5683;ExAC.Info.AC_Hom=856;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5714+152delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5715delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In40/41;SAVANT_HGVS=c.5714+152delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.5714+152delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94476203">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,45:107:99:1296,0,2154:127	1|1:4,117:121:99:3879,225,0:127	0|0:113,0:113:99:0,340,4545:127
1	94476388	.	C	G	25452.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=630;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs1801574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801574" target="_blank">rs1801574</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=27830;ExAC.Info.AN=126702;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=21251;ExAC.Info.AC_Hom=3264;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000085750;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5682C>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu1894Leu/c.5682G>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=Ex40;SAVANT_HGVS=c.5682G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.5682G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94476388">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000085750" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:84,111:195:99:3309,0,2478:127	1|1:0,250:250:99:9001,751,0:127	0|0:185,0:185:99:0,556,6642:127
1	94476991	.	CT	C	10225.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=276;MQ=70.10;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs4147899;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4147899" target="_blank">rs4147899</a>;ExAC.Info.AC=27414;ExAC.Info.AN=126560;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=20841;ExAC.Info.AC_Hom=2972;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5461-51delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.5461-51delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.5461-51delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94476991">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,47:77:99:1219,0,943:127	1|1:0,107:107:99:3262,322,0:127	0|0:92,0:92:99:0,277,3609:127
1	94480037	.	C	T	27067.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=577;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs2275033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275033" target="_blank">rs2275033</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5460+62G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.5460+62G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.5460+62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94480037">View</a>	GT:AD:DP:GQ:PL:TP	0|1:80,87:167:99:2272,0,2328:127	1|1:1,233:234:99:7937,664,0:127	0|1:92,84:176:99:2321,0,2818:127
1	94487354	.	G	A	29898.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=848;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs472908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=472908" target="_blank">rs472908</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Stargardt_disease;hgmd_2014.2.OMIM_ID=601691;hgmd_2014.2.PubMed=23953153;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23953153" target="_blank">23953153</a>;ExAC.Info.AC=73605;ExAC.Info.AN=126678;ExAC.Info.AF=0.581;ExAC.Info.AC_Het=29818;ExAC.Info.AC_Hom=21705;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000085672;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4773+48C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4774G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4774G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4774G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4774G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4774G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4774G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4774G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4774G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4774G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.4773+48C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.4773+48C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94487354">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000085672" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	0|1:121,118:239:99:3259,0,3588:127	1|1:0,310:310:99:10767,931,0:127	0|0:299,0:299:99:0,897,10815:127
1	94507069	.	TA	T	21732.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs35094232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35094232" target="_blank">rs35094232</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3329-112delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3329delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3329-112delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.3329-112delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94507069">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2406,264,0:127	1|1:2,146:148:99:3915,387,0:127	1|1:1,111:112:99:2998,307,0:127
1	94512360	.	G	A	5247.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs17392369;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17392369" target="_blank">rs17392369</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2918+115C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" 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target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" 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target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2919G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2918+115C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.2918+115C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94512360">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,54:100:99:1594,0,1150:127	0|0:127,0:127:99:0,382,4352:127	1|0:69,42:111:99:1042,0,1978:127
1	94512565	.	C	T	9176.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1801581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801581" target="_blank">rs1801581</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Macular_degeneration|_age-related|_association_with;hgmd_2014.2.OMIM_ID=601691;hgmd_2014.2.PubMed=11919200;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11919200" target="_blank">11919200</a>;ExAC.Info.AC=3883;ExAC.Info.AN=126704;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3705;ExAC.Info.AC_Hom=89;Clinvar.ClinicalSignificance=Benign|Pathogenic|risk_factor;Clinvar.RCVaccession=RCV000008375|RCV000008374|RCV000085512;Clinvar.PhenotypeIDs=|MedGen:C1855465|OMIM:248200|Orphanet:ORPHA827|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2828C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg943Gln/c.2828G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2828G>A_p.Arg943Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.2828G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94512565">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008375%20OR%20RCV000008374%20OR%20RCV000085512" target="_blank">Benign|Pathogenic|risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0|1:66,42:108:99:1255,0,2087:127	1|0:61,69:130:99:2196,0,1752:127	0|0:115,0:115:99:0,346,4006:127
1	94526044	.	A	G	12677.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=520;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs56197337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56197337" target="_blank">rs56197337</a>;ExAC.Info.AC=6165;ExAC.Info.AN=126704;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5808;ExAC.Info.AC_Hom=165;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2160+49T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2160+49T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.2160+49T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94526044">View</a>	GT:AD:DP:GQ:PL:TP	0|1:73,91:164:99:2602,0,1979:127	1|0:105,85:190:99:2539,0,3129:127	0|0:166,0:166:99:0,498,5561:127
1	94544135	.	A	AC	14010.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs4147887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4147887" target="_blank">rs4147887</a>;ExAC.Info.AC=93350;ExAC.Info.AN=126700;ExAC.Info.AF=0.737;ExAC.Info.AC_Het=23862;ExAC.Info.AC_Hom=34735;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1356+11_1356+10insG;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357_1358insC;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1356+10dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.1356+10dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94544135">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,59:106:99:1591,0,1129:127	0|1:74,77:151:99:1971,0,1813:127	1|1:0,108:108:99:3324,327,0:127
1	94544276	.	G	A	32405.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=761;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs4147830;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4147830" target="_blank">rs4147830</a>;ExAC.Info.AC=60910;ExAC.Info.AN=126704;ExAC.Info.AF=0.481;ExAC.Info.AC_Het=31100;ExAC.Info.AC_Hom=14904;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000085380;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1240-14C>T;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240G>A;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1240-14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.1240-14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94544276">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000085380" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:147,102:249:99:2615,0,4313:127	0|1:140,132:272:99:3697,0,3942:127	1|1:0,240:240:99:7978,721,0:127
1	94544326	.	GT	G	22586.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=462;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs3215952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215952" target="_blank">rs3215952</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1240-65delA;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1240-65delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.1240-65delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94544326">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,57:144:99:1695,0,2798:127	0|1:83,89:172:99:2796,0,2577:127	1|1:0,146:146:99:5406,439,0:127
1	94549083	.	T	C	4970.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs574741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=574741" target="_blank">rs574741</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.769-86A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.769-86A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.769-86A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94549083">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,22:34:99:642,0,352:120	0|1:25,14:39:99:457,0,776:120	1|1:0,40:40:99:1430,120,0:120
1	94576968	.	T	C	3740.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs2297634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297634" target="_blank">rs2297634</a>;ExAC.Info.AC=65520;ExAC.Info.AN=126666;ExAC.Info.AF=0.517;ExAC.Info.AC_Het=30491;ExAC.Info.AC_Hom=16776;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000085538;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.302+26A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.302+26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.302+26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94576968">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000085538" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	0|1:17,12:29:99:354,0,498:96	1|1:0,32:32:96:1042,96,0:96	0|1:13,11:24:99:303,0,387:96
1	94578548	.	T	C	24652.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Stargardt_disease_1|_248200_(3)|_Retinitis_pigmentosa_19|_601718_(3)|_Cone-rod_dystrophy_3|_604116_(3)|_Macular_degeneration|_age-related|_2|_153800_(3)|_Fundus_flavimaculatus|_248200_(3)|_Retinal_dystrophy|_early-onset_severe|_248200_(3);dbSNP139.ID=rs4847281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4847281" target="_blank">rs4847281</a>;ExAC.Info.AC=126249;ExAC.Info.AN=126704;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=442;ExAC.Info.AC_Hom=62891;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro47Pro/c.141A>G;snpeff.Amino_Acid_length=2273;snpeff.Gene_Name=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370225;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370225;SAVANT_GENE=ABCA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4" target="_blank">ABCA4</a>;SAVANT_INFO=-/128.3kb/50/7.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.141A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCA4+c.141A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94578548">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3435,291,0:127	1|1:0,122:122:99:4127,366,0:127	1|1:0,85:85:99:2976,255,0:127
1	94639447	.	C	T	55519.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=748;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1999272;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1999272" target="_blank">rs1999272</a>;ExAC.Info.AC=124801;ExAC.Info.AN=126666;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1576;ExAC.Info.AC_Hom=61443;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGt/gAt;snpeff.Amino_Acid_Change=p.Gly1255Asp/c.3764G>A;snpeff.Amino_Acid_length=1261;snpeff.Gene_Name=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260526;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260526;SAVANT_GENE=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;SAVANT_INFO=-/65.8kb/23/6.1kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.3764G>A_p.Gly1255Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP29+c.3764G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94639447">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,233:233:99:7368,699,0:127	1|1:0,278:278:99:9157,834,0:127	1|1:0,237:237:99:7861,712,0:127
1	94668046	.	C	T	35190.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=475;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1541099;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1541099" target="_blank">rs1541099</a>;ExAC.Info.AC=123950;ExAC.Info.AN=126272;ExAC.Info.AF=0.982;ExAC.Info.AC_Het=1641;ExAC.Info.AC_Hom=59101;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1143+54G>A;snpeff.Amino_Acid_length=1261;snpeff.Gene_Name=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260526;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1261;snpeff.Gene_Name=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260526;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1261;snpeff.Gene_Name=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260526;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1261;snpeff.Gene_Name=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260526;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260526;SAVANT_GENE=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;SAVANT_INFO=-/65.8kb/23/6.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1143+54G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP29+c.1143+54G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94668046">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,146:146:99:4620,438,0:127	1|1:0,215:215:99:7004,646,0:127	1|1:0,114:114:99:3934,343,0:127
1	94670784	.	T	C	1888.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10443184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10443184" target="_blank">rs10443184</a>;ExAC.Info.AC=45759;ExAC.Info.AN=126528;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=27317;ExAC.Info.AC_Hom=7984;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.560-30A>G;snpeff.Amino_Acid_length=1261;snpeff.Gene_Name=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260526;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260526;SAVANT_GENE=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;SAVANT_INFO=-/65.8kb/23/6.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.560-30A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP29+c.560-30A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94670784">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,1022:78	0|1:18,16:34:99:433,0,597:78	0|1:12,17:29:99:531,0,336:78
1	94674723	.	G	A	13216.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6684237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6684237" target="_blank">rs6684237</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.437+87C>T;snpeff.Amino_Acid_length=1261;snpeff.Gene_Name=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260526;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260526;SAVANT_GENE=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;SAVANT_INFO=-/65.8kb/23/6.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.437+87C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP29+c.437+87C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94674723">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2162,168,0:127	1|1:0,50:50:99:1723,150,0:127	1|1:0,51:51:99:2066,153,0:127
1	94674726	.	T	C	3743.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2274788;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274788" target="_blank">rs2274788</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.437+84A>G;snpeff.Amino_Acid_length=1261;snpeff.Gene_Name=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260526;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260526;SAVANT_GENE=ARHGAP29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP29" target="_blank">ARHGAP29</a>;SAVANT_INFO=-/65.8kb/23/6.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.437+84A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP29+c.437+84A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94674726">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,27:56:99:844,0,743:127	0|0:51,0:51:99:0,153,1664:127	1|0:24,28:52:99:827,0,609:127
1	94930345	.	G	A	40115.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=955;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs16946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16946" target="_blank">rs16946</a>;ExAC.Info.AC=49710;ExAC.Info.AN=126704;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=28592;ExAC.Info.AC_Hom=10551;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys78Lys/c.234G>A;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=ABCD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCD3" target="_blank">ABCD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454898;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370214;SAVANT_GENE=ABCD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCD3" target="_blank">ABCD3</a>;SAVANT_INFO=+/100.2kb/23/3.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.162G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCD3+c.162G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94930345">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,274:274:99:8872,823,0:127	1|0:172,173:345:99:4695,0,5060:127	1|0:185,151:336:99:3939,0,5388:127
1	94964139	.	AT	A	814.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs201875475;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201875475" target="_blank">rs201875475</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1459-18delT;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=ABCD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCD3" target="_blank">ABCD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454898;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370214;SAVANT_GENE=ABCD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCD3" target="_blank">ABCD3</a>;SAVANT_INFO=+/100.2kb/23/3.5kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1387-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCD3+c.1387-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94964139">View</a>	GT:AD:DP:GQ:PL:TP	0/1:110,18:128:99:103,0,2199:66	0/1:134,25:159:93:93,0,2639:66	0/1:120,20:140:67:67,0,2434:66
1	94980671	.	C	G	55235.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=715;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3118109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3118109" target="_blank">rs3118109</a>;ExAC.Info.AC=126010;ExAC.Info.AN=126546;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=506;ExAC.Info.AC_Hom=62425;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1918-31C>G;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=ABCD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCD3" target="_blank">ABCD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454898;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370214;SAVANT_GENE=ABCD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCD3" target="_blank">ABCD3</a>;SAVANT_INFO=+/100.2kb/23/3.5kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.1846-31C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCD3+c.1846-31C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:94980671">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,213:213:99:7541,640,0:127	1|1:0,269:269:99:9741,808,0:127	1|1:0,233:233:99:8293,700,0:127
1	95001600	.	A	C	19671.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=224;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs698946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=698946" target="_blank">rs698946</a>;ExAC.Info.AC=126084;ExAC.Info.AN=126704;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=586;ExAC.Info.AC_Hom=62748;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333A>C;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F3" target="_blank">F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334047;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333A>C;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F3" target="_blank">F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334047;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333A>C;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F3" target="_blank">F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334047;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333A>C;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F3" target="_blank">F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334047;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333A>C;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F3" target="_blank">F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334047;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333A>C;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F3" target="_blank">F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334047;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333A>C;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F3" target="_blank">F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334047;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccG;snpeff.Amino_Acid_Change=p.Pro111Pro/c.333T>G;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F3" target="_blank">F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334047;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334047;SAVANT_GENE=F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F3" target="_blank">F3</a>;SAVANT_INFO=-/12.6kb/6/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.333T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F3+c.333T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95001600">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2155,183,0:127	1|1:0,88:88:99:3185,265,0:127	1|1:0,75:75:99:2633,225,0:127
1	95211525	.	G	A	3864.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1333953;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1333953" target="_blank">rs1333953</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.327-13532C>T;snpeff.Gene_Name=LINC01057;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC01057" target="_blank">LINC01057</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000452922;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC01057" target="_blank">LINC01057</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=LINC01057+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95211525">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,20:42:99:573,0,725:127	0/1:23,21:44:99:585,0,708:127	0/1:26,21:47:99:560,0,773:127
1	95286085	.	G	A	2656.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11165252;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11165252" target="_blank">rs11165252</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.27+51G>A;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.27+51G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.27+51G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95286085">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,16:32:99:371,0,419:79	0/1:7,20:27:99:587,0,156:79	0/1:14,5:19:79:79,0,368:79
1	95286094	.	G	T	8121.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10782992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10782992" target="_blank">rs10782992</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.27+60G>T;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.27+60G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.27+60G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95286094">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1224,96,0:59	1|1:0,23:23:72:955,72,0:59	1|1:0,20:20:60:673,60,0:59
1	95286658	.	C	A	3780.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6676991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6676991" target="_blank">rs6676991</a>;ExAC.Info.AC=15791;ExAC.Info.AN=26920;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=4994;ExAC.Info.AC_Hom=4298;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.135+46C>A;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.136C>A;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.136C>A;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.135+46C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.135+46C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95286658">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,10:39:99:281,0,766:127	0/1:21,18:39:99:527,0,601:127	0/1:36,26:62:99:727,0,1015:127
1	95286675	.	GTCCCAAATGTAAA	G	3617.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11274910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11274910" target="_blank">rs11274910</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.135+64_135+76delTCCCAAATGTAAA;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.136_148delTCCCAAATGTAAA;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.136_148delTCCCAAATGTAAA;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.135+66_135+78del13;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.135+66_135+78del13+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95286675">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,10:31:99:357,0,1366:127	0/1:17,13:30:99:496,0,1122:127	0/1:30,17:47:99:624,0,2126:127
1	95291479	.	A	C	1894.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12057188;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12057188" target="_blank">rs12057188</a>;ExAC.Info.AC=2214;ExAC.Info.AN=15538;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=1623;ExAC.Info.AC_Hom=193;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.278+1288A>C;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.278+1288A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.278+1288A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95291479">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,2857:127	0|1:62,36:98:99:966,0,1788:127	0|0:85,0:85:99:0,255,2816:127
1	95293005	.	A	G	4060.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17407097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17407097" target="_blank">rs17407097</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.279-58A>G;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.279-58A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.279-58A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95293005">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,319,3710:127	0|1:74,63:137:99:2049,0,2225:127	0|0:137,0:137:99:0,412,4762:127
1	95294089	.	T	C	3298.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2640065;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2640065" target="_blank">rs2640065</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=26048;ExAC.Info.AN=126700;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=20081;ExAC.Info.AC_Hom=2982;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr152Tyr/c.456T>C;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.456T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.456T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95294089">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2639:127	0|1:54,55:109:99:1668,0,1573:127	0|0:85,0:85:99:0,255,2874:127
1	95305440	.	A	G	33445.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=672;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs859120;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859120" target="_blank">rs859120</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.423-843T>C;snpeff.Gene_Name=RP11-465K1.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-465K12" target="_blank">RP11-465K12</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422162;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.671-64A>G;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-465K12" target="_blank">RP11-465K12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671A>G;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-465K12" target="_blank">RP11-465K12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671A>G;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-465K12" target="_blank">RP11-465K12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.671-64A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.671-64A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95305440">View</a>	GT:AD:DP:GQ:PL:TP	0|1:97,80:177:99:2300,0,2620:127	1|1:0,265:265:99:9333,796,0:127	0|1:120,110:230:99:3194,0,3243:127
1	95330372	.	G	A	2616.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs859098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859098" target="_blank">rs859098</a>;ExAC.Info.AC=97676;ExAC.Info.AN=126704;ExAC.Info.AF=0.771;ExAC.Info.AC_Het=21079;ExAC.Info.AC_Hom=38289;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val438Ile/c.1312G>A;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1312G>A_p.Val438Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.1312G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95330372">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,3677:127	0|0:133,0:133:99:0,400,4439:127	0|1:70,46:116:99:1327,0,1891:127
1	95332864	.	C	T	2310.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12137650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12137650" target="_blank">rs12137650</a>;ExAC.Info.AC=34963;ExAC.Info.AN=126672;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=24352;ExAC.Info.AC_Hom=5146;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1396-23C>T;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1396-23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.1396-23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95332864">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,21:36:99:547,0,444:114	1|0:27,21:48:99:564,0,849:114	0|0:38,0:38:99:0,114,1397:114
1	95333068	.	G	T	8803.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs859096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859096" target="_blank">rs859096</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1482+95G>T;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1482+95G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.1482+95G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95333068">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1572,141,0:127	1|0:30,25:55:99:698,0,974:127	1|1:0,54:54:99:1868,162,0:127
1	95358096	.	A	G	9243.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs859063;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859063" target="_blank">rs859063</a>;ExAC.Info.AC=68596;ExAC.Info.AN=126674;ExAC.Info.AF=0.542;ExAC.Info.AC_Het=30289;ExAC.Info.AC_Hom=19131;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1857+23A>G;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1857+23A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.1857+23A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95358096">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1457,120,0:107	1|0:40,27:67:99:777,0,1098:107	1|1:0,36:36:99:1384,108,0:107
1	95360534	.	GA	G	1043.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs145584562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145584562" target="_blank">rs145584562</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=57;snpeff.Amino_Acid_Change=c.*57delA;snpeff.Amino_Acid_length=653;snpeff.Gene_Name=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271227;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271227;SAVANT_GENE=SLC44A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC44A3" target="_blank">SLC44A3</a>;SAVANT_INFO=+/74.9kb/15/2.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*58delA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC44A3+c.*58delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95360534">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1644:127	0|1:25,18:43:99:545,0,805:127	0|0:49,0:49:99:0,147,1831:127
1	95367649	.	T	C	12477.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs859058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859058" target="_blank">rs859058</a>;ExAC.Info.AC=68566;ExAC.Info.AN=126682;ExAC.Info.AF=0.541;ExAC.Info.AC_Het=30054;ExAC.Info.AC_Hom=19207;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.384+28A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=CNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNN3" target="_blank">CNN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370206;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370206;SAVANT_GENE=CNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNN3" target="_blank">CNN3</a>;SAVANT_INFO=-/30.3kb/7/2.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.384+28A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNN3+c.384+28A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95367649">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,71:73:99:2272,138,0:127	1|0:48,31:79:99:942,0,1510:127	1|1:0,43:43:99:1631,129,0:127
1	95615748	.	C	CT	421.01	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs71876426;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71876426" target="_blank">rs71876426</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.246-15_246-14insT;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RP11-57H12.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000604534;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.246-15_246-14insT;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=TMEM56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TLC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.246_247insT;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=TMEM56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370203;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TLC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.246_247insT;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=TMEM56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370203;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TLC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.246_247insT;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=TMEM56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370203;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TLC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.246_247insT;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=TMEM56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TLC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.246_247insT;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=TMEM56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370203;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TLC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.246_247insT;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=TMEM56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370203;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370203;SAVANT_GENE=TMEM56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM56" target="_blank">TMEM56</a>;SAVANT_INFO=+/80.3kb/7/6.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.246-4dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM56+c.246-4dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95615748">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,5:15:88:88,0,188:32	0|0:19,1:20:33:0,33,452:32	1|0:13,4:17:26:26,0,294:32
1	95696612	.	C	T	3376.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6663164;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6663164" target="_blank">rs6663164</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.566+62C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RP11-57H12.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000604534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.283+2644G>A;snpeff.Gene_Name=RP11-57H12.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421762;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-57H126+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95696612">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2502:127	0|1:48,59:107:99:1707,0,1242:127	0|0:67,0:67:99:0,201,2524:127
1	95699829	.	A	G	882.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs142820652;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142820652" target="_blank">rs142820652</a>;ExAC.Info.AC=863;ExAC.Info.AN=123884;ExAC.Info.AF=6.966e-03;ExAC.Info.AC_Het=694;ExAC.Info.AC_Hom=6;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.566+3279A>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RP11-57H12.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000604534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RWD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.43A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370202;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RWD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.43A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370202;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.43A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370202;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile15Val/c.43A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H126" target="_blank">RP11-57H126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370202;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370202;SAVANT_GENE=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RWDD3" target="_blank">RWDD3</a>;SAVANT_INFO=+/13.1kb/4/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.43A>G_p.Ile15Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RWDD3+c.43A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95699829">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,1201:105	0|0:36,0:36:99:0,106,1084:105	0|1:29,17:46:99:460,0,715:105
1	95709821	.	T	C	40623.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=530;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs259358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=259358" target="_blank">rs259358</a>;ExAC.Info.AC=124592;ExAC.Info.AN=125152;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=526;ExAC.Info.AC_Hom=61995;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.71-740A>G;snpeff.Gene_Name=RP11-57H12.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H125" target="_blank">RP11-57H125</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444665;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.*15T>C;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RP11-57H12.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H125" target="_blank">RP11-57H125</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000604534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RWD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140T>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H125" target="_blank">RP11-57H125</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370202;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RWD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140T>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H125" target="_blank">RP11-57H125</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370202;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val47Ala/c.140T>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H125" target="_blank">RP11-57H125</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370202;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370202;SAVANT_GENE=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RWDD3" target="_blank">RWDD3</a>;SAVANT_INFO=+/13.1kb/4/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.140T>C_p.Val47Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RWDD3+c.140T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95709821">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,170:170:99:5750,510,0:127	1|1:0,200:200:99:6576,599,0:127	1|1:0,160:160:99:5461,480,0:127
1	95709939	.	T	G	37787.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=431;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2296308;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296308" target="_blank">rs2296308</a>;ExAC.Info.AC=106987;ExAC.Info.AN=125180;ExAC.Info.AF=0.855;ExAC.Info.AC_Het=15060;ExAC.Info.AC_Hom=45931;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.71-858A>C;snpeff.Gene_Name=RP11-57H12.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H125" target="_blank">RP11-57H125</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444665;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=133;snpeff.Amino_Acid_Change=c.*133T>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RP11-57H12.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H125" target="_blank">RP11-57H125</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000604534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H125" target="_blank">RP11-57H125</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370202;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RWD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H125" target="_blank">RP11-57H125</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370202;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RWD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H125" target="_blank">RP11-57H125</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370202;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaT/aaG;snpeff.Amino_Acid_Change=p.Asn86Lys/c.258T>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57H125" target="_blank">RP11-57H125</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370202;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370202;SAVANT_GENE=RWDD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RWDD3" target="_blank">RWDD3</a>;SAVANT_INFO=+/13.1kb/4/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.258T>G_p.Asn86Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RWDD3+c.258T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:95709939">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:5308,409,0:127	1|1:0,156:156:99:6068,469,0:127	1|1:0,139:139:99:5413,418,0:127
1	97189091	.	G	A	7466.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3762411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3762411" target="_blank">rs3762411</a>;ExAC.Info.AC=69615;ExAC.Info.AN=126704;ExAC.Info.AF=0.549;ExAC.Info.AC_Het=30550;ExAC.Info.AC_Hom=19514;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-115-29G>A;snpeff.Amino_Acid_length=548;snpeff.Gene_Name=PTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTBP2" target="_blank">PTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394184;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426398;SAVANT_GENE=PTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTBP2" target="_blank">PTBP2</a>;SAVANT_INFO=+/93.0kb/14/3.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.9-29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTBP2+c.9-29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:97189091">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,17:52:99:484,0,1027:127	0|0:96,1:97:99:0,248,3329:127	1|1:0,72:72:99:2514,216,0:127
1	97272456	.	A	G	8710.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=388;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6699932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6699932" target="_blank">rs6699932</a>;ExAC.Info.AC=26855;ExAC.Info.AN=126702;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20009;ExAC.Info.AC_Hom=3420;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttA/ttG;snpeff.Amino_Acid_Change=p.Leu387Leu/c.1161A>G;snpeff.Amino_Acid_length=548;snpeff.Gene_Name=PTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTBP2" target="_blank">PTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394184;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426398;SAVANT_GENE=PTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTBP2" target="_blank">PTBP2</a>;SAVANT_INFO=+/93.0kb/14/3.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1113A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTBP2+c.1113A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:97272456">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,77:128:99:2209,0,1223:127	0|0:107,0:107:99:0,321,3546:127	1|0:92,61:153:99:1611,0,2589:127
1	97544771	.	T	C	47856.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=595;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Dihydropyrimidine_dehydrogenase_deficiency|_274270_(3)|_5-fluorouracil_toxicity|_274270_(3);dbSNP139.ID=rs290855;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=290855" target="_blank">rs290855</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2908-69A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370192;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370192;SAVANT_GENE=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;SAVANT_INFO=-/843.3kb/23/4.4kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2908-69A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYD+c.2908-69A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:97544771">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,185:185:99:6517,555,0:127	1|1:0,239:239:99:8641,718,0:127	1|1:0,171:171:99:6160,514,0:127
1	97602994	.	A	G	9218.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=942;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Dihydropyrimidine_dehydrogenase_deficiency|_274270_(3)|_5-fluorouracil_toxicity|_274270_(3);dbSNP139.ID=rs1760217;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1760217" target="_blank">rs1760217</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2623-38806T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370192;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.64+41452A>G;snpeff.Gene_Name=DPYD-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422980;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370192;SAVANT_GENE=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;SAVANT_INFO=-/843.3kb/23/4.4kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2623-38806T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYD+c.2623-38806T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:97602994">View</a>	GT:AD:DP:GQ:PL:TP	0|0:307,1:308:99:0,880,9456:127	0|1:177,160:337:99:4628,0,4904:127	0|0:297,0:297:99:0,892,9654:127
1	97839016	.	A	G	2452.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Dihydropyrimidine_dehydrogenase_deficiency|_274270_(3)|_5-fluorouracil_toxicity|_274270_(3);dbSNP139.ID=rs1890138;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1890138" target="_blank">rs1890138</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2058+101T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370192;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370192;SAVANT_GENE=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;SAVANT_INFO=-/843.3kb/23/4.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2058+101T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYD+c.2058+101T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:97839016">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,18:54:99:416,0,1051:125	1|0:36,22:58:99:557,0,1044:125	0|0:42,0:42:99:0,126,1596:125
1	97981395	.	T	C	17057.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=821;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Dihydropyrimidine_dehydrogenase_deficiency|_274270_(3)|_5-fluorouracil_toxicity|_274270_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1801159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801159" target="_blank">rs1801159</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Dihydropyrimidine_dehydrogenase_deficiency;hgmd_2014.2.OMIM_ID=612779;hgmd_2014.2.PubMed=14635116;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=14635116" target="_blank">14635116</a>;ExAC.Info.AC=24325;ExAC.Info.AN=126688;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=19103;ExAC.Info.AC_Hom=2580;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000086475;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Gta;snpeff.Amino_Acid_Change=p.Ile543Val/c.1627A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370192;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370192;SAVANT_GENE=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;SAVANT_INFO=-/843.3kb/23/4.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1627A>G_p.Ile543Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYD+c.1627A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:97981395">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000086475" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	1|0:134,121:255:99:3696,0,3442:127	0|0:323,0:323:99:0,969,10909:127	1|0:129,114:243:99:3364,0,3717:127
1	97981421	.	C	T	18267.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=842;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Dihydropyrimidine_dehydrogenase_deficiency|_274270_(3)|_5-fluorouracil_toxicity|_274270_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs1801158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801158" target="_blank">rs1801158</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Dihydropyrimidine_dehydrogenase_deficiency;hgmd_2014.2.OMIM_ID=612779;hgmd_2014.2.PubMed=14635116;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=14635116" target="_blank">14635116</a>;ExAC.Info.AC=1792;ExAC.Info.AN=126700;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1753;ExAC.Info.AC_Hom=18;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000086477;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser534Asn/c.1601G>A;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370192;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370192;SAVANT_GENE=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;SAVANT_INFO=-/843.3kb/23/4.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1601G>A_p.Ser534Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYD+c.1601G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:97981421">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000086477" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	0|1:124,131:255:99:3496,0,3810:127	1|0:153,168:321:99:4676,0,4588:127	0|0:266,0:266:99:0,799,9513:127
1	98348885	.	G	A	30501.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=399;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Dihydropyrimidine_dehydrogenase_deficiency|_274270_(3)|_5-fluorouracil_toxicity|_274270_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1801265;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801265" target="_blank">rs1801265</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Dihydropyrimidine_dehydrogenase_deficiency;hgmd_2014.2.OMIM_ID=612779;hgmd_2014.2.PubMed=9266349;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=9266349" target="_blank">9266349</a>;ExAC.Info.AC=96818;ExAC.Info.AN=126664;ExAC.Info.AF=0.764;ExAC.Info.AC_Het=21890;ExAC.Info.AC_Hom=37377;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg29Cys/c.85C>T;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370192;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370192;SAVANT_GENE=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;SAVANT_INFO=-/843.3kb/23/4.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.85C>T_p.Arg29Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYD+c.85C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:98348885">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4110,373,0:127	1|1:0,152:152:99:5086,457,0:127	1|1:0,123:123:99:4201,370,0:127
1	98349390	.	C	CA	8403.89	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=1.00;AN=4;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=1/1;NA12891_GT=./1;OMIM_phenotypes.name=Dihydropyrimidine_dehydrogenase_deficiency|_274270_(3)|_5-fluorouracil_toxicity|_274270_(3);dbSNP139.ID=rs111231337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111231337" target="_blank">rs111231337</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.40-460_40-461insT;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370192;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370192;SAVANT_GENE=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;SAVANT_INFO=-/843.3kb/23/4.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.40-461dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYD+c.40-461dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:98349390">View</a>	GT:AD:DP:GQ:PL	./1:2,28:48:99:1164,354,282	./1:4,18:48:99:1384,594,559	1/1:3,39:42:78:1100,78,0
1	98349390	.	C	CAA	8403.89	PASS	InGeneList;InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./.;NA12891_GT=./1;OMIM_phenotypes.name=Dihydropyrimidine_dehydrogenase_deficiency|_274270_(3)|_5-fluorouracil_toxicity|_274270_(3);dbSNP139.ID=rs11414362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11414362" target="_blank">rs11414362</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.40-460_40-461insTT;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370192;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370192;SAVANT_GENE=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;SAVANT_INFO=-/843.3kb/23/4.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.40-462_40-461dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYD+c.40-462_40-461dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:98349390">View</a>	GT:AD:DP:GQ:PL	./1:2,18:48:99:1164,613,615	./1:4,26:48:99:1384,351,356	./.:3,0:42:78:1100,998,1058
1	98386593	.	G	A	2420.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Dihydropyrimidine_dehydrogenase_deficiency|_274270_(3)|_5-fluorouracil_toxicity|_274270_(3);snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DPYD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYD" target="_blank">DPYD</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYD+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:98386593">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,265,3245:127	0|0:76,0:76:99:0,229,2917:127	0|1:40,44:84:99:1229,0,1177:127
1	98511733	.	G	GCCGCTGCCGCTGCTA	294.21	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=5;MQ=70.22;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.814_815insTAGCAGCGGCAGCGG;snpeff.Gene_Name=MIR137HG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR137HG" target="_blank">MIR137HG</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424528;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR137HG" target="_blank">MIR137HG</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIR137HG+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:98511733">View</a>	GT:AD:DP:GQ:PL:TP	0|0:2,0:2:15:0,15,70:5	0|1:0,3:3:1:174,7,0:5	0|0:0,0:0:9:0,9,19:5
1	99127392	.	T	C	8958.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs9728148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9728148" target="_blank">rs9728148</a>;ExAC.Info.AC=11222;ExAC.Info.AN=11262;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=14;ExAC.Info.AC_Hom=4069;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser35Ser/c.105T>C;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306121;SAVANT_GENE=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;SAVANT_INFO=+/98.8kb/9/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.105T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNX7+c.105T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:99127392">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,21:21:63:733,63,0:107	1|1:0,41:41:99:1437,123,0:107	1|1:0,36:36:99:1086,108,0:107
1	99150635	.	G	A	15524.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs9433747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9433747" target="_blank">rs9433747</a>;ExAC.Info.AC=117786;ExAC.Info.AN=126384;ExAC.Info.AF=0.932;ExAC.Info.AC_Het=6701;ExAC.Info.AC_Hom=51893;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.363+12G>A;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364G>A;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364G>A;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PX];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364G>A;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PX];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364G>A;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PX];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364G>A;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PX];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364G>A;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306121;SAVANT_GENE=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;SAVANT_INFO=+/98.8kb/9/1.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.363+12G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNX7+c.363+12G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:99150635">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2462,249,0:127	1|1:0,77:77:99:2531,231,0:127	1|1:0,63:63:99:2082,189,0:127
1	99161184	.	C	A	4108.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35391040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35391040" target="_blank">rs35391040</a>;ExAC.Info.AC=583;ExAC.Info.AN=126704;ExAC.Info.AF=4.601e-03;ExAC.Info.AC_Het=569;ExAC.Info.AC_Hom=6;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttC/ttA;snpeff.Amino_Acid_Change=p.Phe250Leu/c.750C>A;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306121;SAVANT_GENE=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;SAVANT_INFO=+/98.8kb/9/1.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.750C>A_p.Phe250Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNX7+c.750C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:99161184">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,38:75:99:946,0,1025:127	0|0:102,1:103:99:0,271,3464:127	1|0:46,28:74:99:726,0,1442:127
1	99164434	.	G	A	12169.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6577322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6577322" target="_blank">rs6577322</a>;ExAC.Info.AC=33640;ExAC.Info.AN=126700;ExAC.Info.AF=0.266;ExAC.Info.AC_Het=23783;ExAC.Info.AC_Hom=4907;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu337Glu/c.1011G>A;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306121;SAVANT_GENE=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;SAVANT_INFO=+/98.8kb/9/1.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1011G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNX7+c.1011G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:99164434">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,41:95:99:1145,0,1590:127	1|1:0,125:125:99:4355,376,0:127	0|0:82,0:82:99:0,247,3112:127
1	99203837	.	T	C	1110.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72726148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72726148" target="_blank">rs72726148</a>;ExAC.Info.AC=172;ExAC.Info.AN=126688;ExAC.Info.AF=1.358e-03;ExAC.Info.AC_Het=166;ExAC.Info.AC_Hom=2;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala390Ala/c.1170T>C;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306121;SAVANT_GENE=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;SAVANT_INFO=+/98.8kb/9/1.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1170T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNX7+c.1170T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:99203837">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1652:125	0|1:26,19:45:99:574,0,739:125	0|0:42,0:42:99:0,126,1506:125
1	99225627	.	G	A	37521.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=495;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2019213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2019213" target="_blank">rs2019213</a>;ExAC.Info.AC=118649;ExAC.Info.AN=126652;ExAC.Info.AF=0.937;ExAC.Info.AC_Het=6223;ExAC.Info.AC_Hom=56080;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu432Glu/c.1296G>A;snpeff.Amino_Acid_length=451;snpeff.Gene_Name=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306121;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306121;SAVANT_GENE=SNX7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX7" target="_blank">SNX7</a>;SAVANT_INFO=+/98.8kb/9/1.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1296G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNX7+c.1296G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:99225627">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,162:162:99:5212,487,0:127	1|1:0,182:182:99:6204,547,0:127	1|1:0,151:151:99:5019,454,0:127
1	99358542	.	C	T	14318.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs55842403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55842403" target="_blank">rs55842403</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=86;snpeff.Amino_Acid_Change=c.*86G>A;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=LPPR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPPR5" target="_blank">LPPR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263177;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263177;SAVANT_GENE=LPPR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPPR5" target="_blank">LPPR5</a>;SAVANT_INFO=-/113.9kb/6/3.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*86G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LPPR5+c.*86G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:99358542">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,59:117:99:1678,0,1911:127	1|1:1,150:151:99:5224,414,0:127	0|0:139,0:139:99:0,420,5125:127
1	99387628	.	T	TA	10578.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs34854879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34854879" target="_blank">rs34854879</a>;ExAC.Info.AC=92721;ExAC.Info.AN=126644;ExAC.Info.AF=0.732;ExAC.Info.AC_Het=23963;ExAC.Info.AC_Hom=32266;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.622-14_622-15insT;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=LPPR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPPR5" target="_blank">LPPR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263177;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622_623insA;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=LPPR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPPR5" target="_blank">LPPR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263177;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622_623insA;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=LPPR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPPR5" target="_blank">LPPR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263177;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000263177;SAVANT_GENE=LPPR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPPR5" target="_blank">LPPR5</a>;SAVANT_INFO=-/113.9kb/6/3.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.622-15dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LPPR5+c.622-15dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:99387628">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,39:92:99:857,0,1215:127	1|1:0,112:112:99:3221,336,0:127	0|1:43,41:84:99:937,0,958:127
1	99418647	.	G	C	4730.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs309087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=309087" target="_blank">rs309087</a>;ExAC.Info.AC=24738;ExAC.Info.AN=126696;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=19605;ExAC.Info.AC_Hom=2559;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600G>C;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=LPPR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPPR5" target="_blank">LPPR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263177;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600G>C;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=LPPR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPPR5" target="_blank">LPPR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263177;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtG;snpeff.Amino_Acid_Change=p.Val200Val/c.600C>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=LPPR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPPR5" target="_blank">LPPR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263177;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263177;SAVANT_GENE=LPPR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPPR5" target="_blank">LPPR5</a>;SAVANT_INFO=-/113.9kb/6/3.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.600C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LPPR5+c.600C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:99418647">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,37:62:99:1194,0,798:127	0|0:94,0:94:99:0,283,3402:127	1|0:39,27:66:99:820,0,1294:127
1	100152443	.	T	C	6028.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1338576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1338576" target="_blank">rs1338576</a>;ExAC.Info.AC=65360;ExAC.Info.AN=126360;ExAC.Info.AF=0.517;ExAC.Info.AC_Het=30404;ExAC.Info.AC_Hom=17094;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.367-43T>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=PALMD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PALMD" target="_blank">PALMD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263174;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263174;SAVANT_GENE=PALMD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PALMD" target="_blank">PALMD</a>;SAVANT_INFO=+/48.6kb/8/2.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.367-43T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PALMD+c.367-43T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100152443">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,49:85:99:1484,0,967:127	1|0:36,47:83:99:1416,0,1052:127	0|0:78,0:78:99:0,234,2657:127
1	100203597	.	G	A	1778.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7513916;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7513916" target="_blank">rs7513916</a>;ExAC.Info.AC=52511;ExAC.Info.AN=126494;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=26185;ExAC.Info.AC_Hom=11974;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.759+45C>T;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DOMON];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.760G>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DOMON];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.760G>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DOMON];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.760G>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287474;SAVANT_GENE=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;SAVANT_INFO=-/57.1kb/17/2.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.759+45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRRS1+c.759+45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100203597">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2369:127	0|0:106,0:106:99:0,318,3491:127	0|1:32,31:63:99:908,0,952:127
1	100203648	.	C	T	2838.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7537296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7537296" target="_blank">rs7537296</a>;ExAC.Info.AC=53070;ExAC.Info.AN=126684;ExAC.Info.AF=0.419;ExAC.Info.AC_Het=27473;ExAC.Info.AC_Hom=12749;snpeff.Effect=sequence_feature[domain:DOMON];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753C>T;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DOMON];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753C>T;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DOMON];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753C>T;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln251Gln/c.753G>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287474;SAVANT_GENE=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;SAVANT_INFO=-/57.1kb/17/2.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.753G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRRS1+c.753G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100203648">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,337,3934:127	0|0:137,0:137:99:0,412,4983:127	0|1:54,54:108:99:1438,0,1592:127
1	100203693	.	G	A	2906.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7514021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7514021" target="_blank">rs7514021</a>;ExAC.Info.AC=53101;ExAC.Info.AN=126702;ExAC.Info.AF=0.419;ExAC.Info.AC_Het=27508;ExAC.Info.AC_Hom=12776;snpeff.Effect=sequence_feature[domain:DOMON];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DOMON];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DOMON];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser236Ser/c.708C>T;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287474;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287474;SAVANT_GENE=FRRS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRRS1" target="_blank">FRRS1</a>;SAVANT_INFO=-/57.1kb/17/2.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.708C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRRS1+c.708C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100203693">View</a>	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,370,4176:127	0|0:136,0:136:99:0,408,4556:127	0|1:53,54:107:99:1472,0,1496:127
1	100316589	.	A	G	19448.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=572;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs2307130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2307130" target="_blank">rs2307130</a>;ExAC.Info.AC=59346;ExAC.Info.AN=126700;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=30599;ExAC.Info.AC_Hom=14359;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.-10A>G;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-10A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.-10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100316589">View</a>	GT:AD:DP:GQ:PL:TP	0/1:62,75:137:99:2420,0,1598:127	0/1:115,114:229:99:3658,0,3053:127	0/1:104,102:206:99:3250,0,2923:127
1	100327026	.	C	T	1596.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs2307129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2307129" target="_blank">rs2307129</a>;ExAC.Info.AC=23930;ExAC.Info.AN=126670;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=18557;ExAC.Info.AC_Hom=2470;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.83-33C>T;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.83-33C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.83-33C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100327026">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2573:127	0|1:33,29:62:99:817,0,926:127	0|0:84,0:84:99:0,253,3112:127
1	100329889	.	G	C	27256.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=544;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs535461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=535461" target="_blank">rs535461</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.461-53G>C;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.461-53G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.461-53G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100329889">View</a>	GT:AD:DP:GQ:PL:TP	0|1:99,73:172:99:2303,0,3146:127	1|1:0,194:194:99:7641,584,0:127	0|1:85,93:178:99:3067,0,2694:127
1	100336361	.	C	T	37290.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=979;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs2230306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230306" target="_blank">rs2230306</a>;ExAC.Info.AC=91093;ExAC.Info.AN=126388;ExAC.Info.AF=0.721;ExAC.Info.AC_Het=24707;ExAC.Info.AC_Hom=32851;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu298Leu/c.894C>T;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.894C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.894C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100336361">View</a>	GT:AD:DP:GQ:PL:TP	0|1:163,144:307:99:3692,0,4873:127	1|1:0,355:355:99:11604,1066,0:127	0|1:178,139:317:99:3522,0,5137:127
1	100340225	.	G	A	30031.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=638;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs634880;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=634880" target="_blank">rs634880</a>;ExAC.Info.AC=91180;ExAC.Info.AN=126524;ExAC.Info.AF=0.721;ExAC.Info.AC_Het=24235;ExAC.Info.AC_Hom=31808;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.959-18G>A;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.959-18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.959-18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100340225">View</a>	GT:AD:DP:GQ:PL:TP	0|1:99,88:187:99:2557,0,2697:127	1|1:0,232:232:99:8485,696,0:127	0|1:108,111:219:99:3568,0,2985:127
1	100340827	.	T	C	4192.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs17121466;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17121466" target="_blank">rs17121466</a>;ExAC.Info.AC=3761;ExAC.Info.AN=126694;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3578;ExAC.Info.AC_Hom=88;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1185+15T>C;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1185+15T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.1185+15T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100340827">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,0:111:99:0,334,3997:127	0|0:139,0:139:99:0,418,5077:127	0|1:88,67:155:99:2115,0,2773:127
1	100346741	.	T	C	13138.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=401;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs3736296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736296" target="_blank">rs3736296</a>;ExAC.Info.AC=69848;ExAC.Info.AN=126684;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=30551;ExAC.Info.AC_Hom=19621;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2001+8T>C;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2002T>C;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2001+8T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.2001+8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100346741">View</a>	GT:AD:DP:GQ:PL:TP	0/1:69,51:120:99:1639,0,1984:127	0/1:84,66:150:99:2194,0,2349:127	0/1:70,61:131:99:1923,0,2052:127
1	100353675	.	G	A	32323.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=714;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs555929;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=555929" target="_blank">rs555929</a>;ExAC.Info.AC=87424;ExAC.Info.AN=126676;ExAC.Info.AF=0.690;ExAC.Info.AC_Het=26676;ExAC.Info.AC_Hom=30299;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2812+11G>A;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2812+11G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.2812+11G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100353675">View</a>	GT:AD:DP:GQ:PL:TP	0|1:126,120:246:99:3565,0,3653:127	1|1:0,239:239:99:8498,718,0:127	0|1:102,127:229:99:3792,0,2847:127
1	100357141	.	T	A	11866.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs2035961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2035961" target="_blank">rs2035961</a>;ExAC.Info.AC=67454;ExAC.Info.AN=126692;ExAC.Info.AF=0.532;ExAC.Info.AC_Het=30590;ExAC.Info.AC_Hom=18358;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2950-21T>A;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2950-21T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.2950-21T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100357141">View</a>	GT:AD:DP:GQ:PL:TP	0/1:79,63:142:99:1630,0,2337:127	0/1:68,89:157:99:2556,0,1940:127	0/1:71,54:125:99:1568,0,2107:127
1	100358103	.	C	T	11389.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3753494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753494" target="_blank">rs3753494</a>;ExAC.Info.AC=17259;ExAC.Info.AN=126704;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=14620;ExAC.Info.AC_Hom=1310;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro1067Ser/c.3199C>T;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.3199C>T_p.Pro1067Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.3199C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100358103">View</a>	GT:AD:DP:GQ:PL:TP	0|0:420,0:420:99:0,1262,15230:127	0|1:242,198:440:99:5615,0,7593:127	0|0:429,0:429:99:0,1288,15454:127
1	100358200	.	G	A	29204.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=661;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs594249;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=594249" target="_blank">rs594249</a>;ExAC.Info.AC=87278;ExAC.Info.AN=126652;ExAC.Info.AF=0.689;ExAC.Info.AC_Het=26303;ExAC.Info.AC_Hom=29687;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3259+37G>A;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.3259+37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.3259+37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100358200">View</a>	GT:AD:DP:GQ:PL:TP	0|1:107,114:221:99:3228,0,3394:127	1|1:0,226:226:99:8087,680,0:127	0|1:108,106:214:99:3209,0,3519:127
1	100376448	.	G	A	8391.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs2274570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274570" target="_blank">rs2274570</a>;ExAC.Info.AC=59263;ExAC.Info.AN=126564;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=28708;ExAC.Info.AC_Hom=12695;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3836+45G>A;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.3836+45G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.3836+45G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100376448">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,47:101:99:1753,0,3521:127	1|0:65,61:126:99:2278,0,4198:127	0|0:110,1:111:99:0,292,7587:127
1	100376456	.	T	A	7647.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Glycogen_storage_disease_IIIa|_232400_(3)|_Glycogen_storage_disease_IIIb|_232400_(3);dbSNP139.ID=rs1541041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1541041" target="_blank">rs1541041</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3836+53T>A;snpeff.Amino_Acid_length=1532;snpeff.Gene_Name=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370163;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294724;SAVANT_GENE=AGL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL" target="_blank">AGL</a>;SAVANT_INFO=+/73.5kb/34/7.4kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.3836+53T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGL+c.3836+53T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100376456">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,41:91:99:1602,0,3443:127	1|0:53,51:104:99:2011,0,3875:127	0|0:94,1:95:99:0,256,7156:127
1	100575933	.	G	A	11953.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13375867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13375867" target="_blank">rs13375867</a>;ExAC.Info.AC=50631;ExAC.Info.AN=126688;ExAC.Info.AF=0.400;ExAC.Info.AC_Het=27957;ExAC.Info.AC_Hom=11292;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776G>A;snpeff.Amino_Acid_length=657;snpeff.Gene_Name=SASS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SASS6" target="_blank">SASS6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287482;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776G>A;snpeff.Amino_Acid_length=657;snpeff.Gene_Name=SASS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SASS6" target="_blank">SASS6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287482;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776G>A;snpeff.Amino_Acid_length=657;snpeff.Gene_Name=SASS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SASS6" target="_blank">SASS6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287482;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776G>A;snpeff.Amino_Acid_length=657;snpeff.Gene_Name=SASS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SASS6" target="_blank">SASS6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287482;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776G>A;snpeff.Amino_Acid_length=657;snpeff.Gene_Name=SASS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SASS6" target="_blank">SASS6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287482;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776G>A;snpeff.Amino_Acid_length=657;snpeff.Gene_Name=SASS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SASS6" target="_blank">SASS6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287482;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776G>A;snpeff.Amino_Acid_length=657;snpeff.Gene_Name=SASS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SASS6" target="_blank">SASS6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287482;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776G>A;snpeff.Amino_Acid_length=657;snpeff.Gene_Name=SASS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SASS6" target="_blank">SASS6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287482;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala259Val/c.776C>T;snpeff.Amino_Acid_length=657;snpeff.Gene_Name=SASS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SASS6" target="_blank">SASS6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287482;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287482;SAVANT_GENE=SASS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SASS6" target="_blank">SASS6</a>;SAVANT_INFO=-/49.4kb/17/3.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.776C>T_p.Ala259Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SASS6+c.776C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100575933">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2676,225,0:127	1|0:55,41:96:99:1193,0,1613:127	1|0:41,40:81:99:1226,0,1179:127
1	100598866	.	G	A	29748.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs472498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=472498" target="_blank">rs472498</a>;ExAC.Info.AC=106282;ExAC.Info.AN=126700;ExAC.Info.AF=0.839;ExAC.Info.AC_Het=14949;ExAC.Info.AC_Hom=45180;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcg/Acg;snpeff.Amino_Acid_Change=p.Ala48Thr/c.142G>A;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=TRMT13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT13" target="_blank">TRMT13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370141;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370141;SAVANT_GENE=CCDC76;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC76" target="_blank">CCDC76</a>;SAVANT_INFO=+/17.3kb/11/3.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.142G>A_p.Ala48Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC76+c.142G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100598866">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:3985,268,0:127	1|1:0,109:109:99:4884,328,0:127	1|1:0,81:81:99:3645,244,0:127
1	100598867	.	C	T	29728.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=277;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs687513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=687513" target="_blank">rs687513</a>;ExAC.Info.AC=106284;ExAC.Info.AN=126700;ExAC.Info.AF=0.839;ExAC.Info.AC_Het=14944;ExAC.Info.AC_Hom=45176;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala48Val/c.143C>T;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=TRMT13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT13" target="_blank">TRMT13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370141;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370141;SAVANT_GENE=CCDC76;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC76" target="_blank">CCDC76</a>;SAVANT_INFO=+/17.3kb/11/3.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.143C>T_p.Ala48Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC76+c.143C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100598867">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:3985,268,0:127	1|1:0,108:108:99:4874,328,0:127	1|1:0,81:81:99:3645,244,0:127
1	100671866	.	T	A	4067.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Maple_syrup_urine_disease|_type_II|_248600_(3);dbSNP139.ID=rs34229137;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34229137" target="_blank">rs34229137</a>;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124663|RCV000079929;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1210-9A>T;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=DBT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBT" target="_blank">DBT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370132;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370132;SAVANT_GENE=DBT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBT" target="_blank">DBT</a>;SAVANT_INFO=-/55.7kb/11/3.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1210-9A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DBT+c.1210-9A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100671866">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124663%20OR%20RCV000079929" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:10,54:64:38:1175,0,38:38	0/1:56,27:83:99:436,0,1330:38	0/1:38,28:66:99:513,0,952:38
1	100672060	.	T	C	46587.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=603;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Maple_syrup_urine_disease|_type_II|_248600_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12021720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12021720" target="_blank">rs12021720</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Maple_syrup_urine_disease;hgmd_2014.2.OMIM_ID=248610;hgmd_2014.2.PubMed=9621512;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=9621512" target="_blank">9621512</a>;ExAC.Info.AC=115769;ExAC.Info.AN=126700;ExAC.Info.AF=0.914;ExAC.Info.AC_Het=9589;ExAC.Info.AC_Hom=53076;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Ggt;snpeff.Amino_Acid_Change=p.Ser384Gly/c.1150A>G;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=DBT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBT" target="_blank">DBT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370132;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370132;SAVANT_GENE=DBT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBT" target="_blank">DBT</a>;SAVANT_INFO=-/55.7kb/11/3.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1150A>G_p.Ser384Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DBT+c.1150A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100672060">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,176:176:99:6102,529,0:127	1|1:0,226:226:99:8092,678,0:127	1|1:0,201:201:99:7050,604,0:127
1	100696185	.	G	GA	15670.89	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;OMIM_phenotypes.name=Maple_syrup_urine_disease|_type_II|_248600_(3);dbSNP139.ID=rs11394110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11394110" target="_blank">rs11394110</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.433+104_433+103insT;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=DBT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBT" target="_blank">DBT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370132;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370132;SAVANT_GENE=DBT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBT" target="_blank">DBT</a>;SAVANT_INFO=-/55.7kb/11/3.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.433+103dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DBT+c.433+103dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100696185">View</a>	GT:AD:DP:GQ:PL	./1:10,59:94:99:2176,298,303	./1:16,83:130:99:2952,248,220	./1:15,67:104:76:2317,76,151
1	100696185	.	G	GAA	15670.89	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;OMIM_phenotypes.name=Maple_syrup_urine_disease|_type_II|_248600_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.433+104_433+103insTT;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=DBT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBT" target="_blank">DBT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370132;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370132;SAVANT_GENE=DBT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBT" target="_blank">DBT</a>;SAVANT_INFO=-/55.7kb/11/3.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.433+102_433+103dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DBT+c.433+102_433+103dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100696185">View</a>	GT:AD:DP:GQ:PL	./1:10,25:94:99:2176,1020,1165	./1:16,31:130:99:2952,1472,1696	./1:15,22:104:76:2317,1051,1350
1	100696206	.	C	A	764.0	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=515;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Maple_syrup_urine_disease|_type_II|_248600_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.433+83G>T;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=DBT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBT" target="_blank">DBT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370132;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370132;SAVANT_GENE=DBT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBT" target="_blank">DBT</a>;SAVANT_INFO=-/55.7kb/11/3.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.433+83G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DBT+c.433+83G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100696206">View</a>	GT:AD:DP:GQ:PL:TP	0/1:113,18:131:67:67,0,3345:66	0/1:175,29:204:99:133,0,5354:66	0/1:146,34:180:99:235,0,4632:66
1	100731948	.	T	G	68.87	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=13;ExAC.Info.AN=126694;ExAC.Info.AF=1.026e-04;ExAC.Info.AC_Het=12;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gGg;snpeff.Amino_Acid_Change=p.Val6Gly/c.17T>G;snpeff.Amino_Acid_length=379;snpeff.Gene_Name=RTCA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTCA" target="_blank">RTCA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260563;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260563;SAVANT_GENE=RTCD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTCD1" target="_blank">RTCD1</a>;SAVANT_INFO=+/25.5kb/12/1.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.17T>G_p.Val6Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTCD1+c.17T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100731948">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,7:21:8:8,0,396:8	0|0:35,6:41:38:0,38,868:8	1|0:22,11:33:42:42,0,420:8
1	100733207	.	G	GT	12393.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;dbSNP139.ID=rs60634058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60634058" target="_blank">rs60634058</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.185+114_185+115insT;snpeff.Amino_Acid_length=379;snpeff.Gene_Name=RTCA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTCA" target="_blank">RTCA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260563;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000260563;SAVANT_GENE=RTCD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTCD1" target="_blank">RTCD1</a>;SAVANT_INFO=+/25.5kb/12/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.185+127dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTCD1+c.185+127dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100733207">View</a>	GT:AD:DP:GQ:PL	./1:3,39:60:99:1955,473,312	./1:9,50:67:99:2141,237,119	./1:11,36:56:99:1669,176,178
1	100733207	.	G	GTT	12393.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.185+114_185+115insTT;snpeff.Amino_Acid_length=379;snpeff.Gene_Name=RTCA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTCA" target="_blank">RTCA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260563;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000260563;SAVANT_GENE=RTCD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTCD1" target="_blank">RTCD1</a>;SAVANT_INFO=+/25.5kb/12/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.185+126_185+127dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTCD1+c.185+126_185+127dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100733207">View</a>	GT:AD:DP:GQ:PL	./1:3,18:60:99:1955,841,778	./1:9,8:67:99:2141,1002,1094	./1:11,9:56:99:1669,613,810
1	100818464	.	T	C	7707.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs594529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=594529" target="_blank">rs594529</a>;ExAC.Info.AC=123955;ExAC.Info.AN=126696;ExAC.Info.AF=0.978;ExAC.Info.AC_Het=2661;ExAC.Info.AC_Hom=60398;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=47;snpeff.Amino_Acid_Change=c.-47T>C;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=CDC14A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC14A" target="_blank">CDC14A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361544;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361544;SAVANT_GENE=CDC14A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC14A" target="_blank">CDC14A</a>;SAVANT_INFO=+/147.0kb/15/2.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-47T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC14A+c.-47T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100818464">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,16:16:48:656,48,0:74	1|1:0,25:25:75:1053,75,0:74	1|1:0,31:31:93:1140,93,0:74
1	100970346	.	T	C	37642.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=593;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10875295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10875295" target="_blank">rs10875295</a>;ExAC.Info.AC=7348;ExAC.Info.AN=18484;ExAC.Info.AF=0.398;ExAC.Info.AC_Het=3322;ExAC.Info.AC_Hom=1354;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CDC14A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC14A" target="_blank">CDC14A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC14A" target="_blank">CDC14A</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC14A+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:100970346">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,184:184:99:6388,552,0:127	1|0:112,116:228:99:3337,0,3164:127	1|1:0,181:181:99:6485,544,0:127
1	101005090	.	G	A	1464.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2809819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2809819" target="_blank">rs2809819</a>;ExAC.Info.AC=36443;ExAC.Info.AN=80804;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=3273;ExAC.Info.AC_Hom=2373;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=GPR88;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR88" target="_blank">GPR88</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val190Ile/c.568G>A;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=GPR88;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR88" target="_blank">GPR88</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000315033;SAVANT_GENE=GPR88;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR88" target="_blank">GPR88</a>;SAVANT_INFO=+/3.9kb/2/3.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.568G>A_p.Val190Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR88+c.568G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:101005090">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1739:127	0|1:23,25:48:99:751,0,764:127	0|0:47,0:47:99:0,141,1894:127
1	101194965	.	G	GT	16286.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=488;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs68164684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=68164684" target="_blank">rs68164684</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1204+28_1204+29insT;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294728;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1205_1206insT;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294728;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1205_1206insT;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294728;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1205_1206insT;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294728;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1205_1206insT;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294728;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1205_1206insT;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294728;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1205_1206insT;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294728;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1205_1206insT;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294728;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1205_1206insT;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294728;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000294728;SAVANT_GENE=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;SAVANT_INFO=+/19.3kb/9/3.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1204+38dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=VCAM1+c.1204+38dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:101194965">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,142:166:99:3166,0,167:125	0|1:98,63:161:99:1122,0,2053:125	1|1:13,148:161:99:3513,126,0:125
1	101203827	.	G	A	51289.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=693;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3176879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3176879" target="_blank">rs3176879</a>;ExAC.Info.AC=118789;ExAC.Info.AN=126700;ExAC.Info.AF=0.938;ExAC.Info.AC_Het=6547;ExAC.Info.AC_Hom=56064;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2208G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294728;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys736Lys/c.2208G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294728;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294728;SAVANT_GENE=VCAM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCAM1" target="_blank">VCAM1</a>;SAVANT_INFO=+/19.3kb/9/3.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2208G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VCAM1+c.2208G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:101203827">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,191:191:99:6699,574,0:127	1|1:0,261:261:99:9283,785,0:127	1|1:0,241:241:99:8562,724,0:127
1	101476786	.	G	A	1100.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs34915449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34915449" target="_blank">rs34915449</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369+2480C>T;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=DPH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPH5" target="_blank">DPH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370109;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370109;SAVANT_GENE=DPH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPH5" target="_blank">DPH5</a>;SAVANT_INFO=-/35.7kb/8/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.369+2480C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPH5+c.369+2480C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:101476786">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1197:108	0|1:22,10:32:99:250,0,725:108	0|1:16,13:29:99:320,0,471:108
1	101476800	.	CA	C	1210.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs35409691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35409691" target="_blank">rs35409691</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369+2465delT;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=DPH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPH5" target="_blank">DPH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370109;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370109;SAVANT_GENE=DPH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPH5" target="_blank">DPH5</a>;SAVANT_INFO=-/35.7kb/8/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.369+2465delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPH5+c.369+2465delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:101476800">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1304:120	0|1:25,11:36:99:241,0,707:120	0|1:15,15:30:99:389,0,399:120
1	101476814	.	C	T	1511.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs17123612;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17123612" target="_blank">rs17123612</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369+2452G>A;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=DPH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPH5" target="_blank">DPH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370109;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370109;SAVANT_GENE=DPH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPH5" target="_blank">DPH5</a>;SAVANT_INFO=-/35.7kb/8/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.369+2452G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPH5+c.369+2452G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:101476814">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1526:127	0|1:31,14:45:99:362,0,991:127	0|1:17,15:32:99:414,0,510:127
1	102271774	.	G	A	32683.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=534;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4907955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4907955" target="_blank">rs4907955</a>;ExAC.Info.AC=70727;ExAC.Info.AN=126526;ExAC.Info.AF=0.559;ExAC.Info.AC_Het=29524;ExAC.Info.AC_Hom=20255;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.653-36C>T;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338858;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Olfactomedin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.653G>A;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338858;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Olfactomedin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.653G>A;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338858;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Olfactomedin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.653G>A;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338858;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370103;SAVANT_GENE=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;SAVANT_INFO=-/194.5kb/6/3.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.593-36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLFM3+c.593-36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:102271774">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,166:166:99:5448,498,0:127	1|0:97,102:199:99:2761,0,3743:127	1|1:1,168:169:99:5638,467,0:127
1	102271775	.	C	T	4882.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=523;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72729629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72729629" target="_blank">rs72729629</a>;ExAC.Info.AC=1731;ExAC.Info.AN=126568;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1663;ExAC.Info.AC_Hom=30;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.653-37G>A;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338858;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Olfactomedin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.653C>T;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338858;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Olfactomedin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.653C>T;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338858;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Olfactomedin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.653C>T;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338858;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370103;SAVANT_GENE=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;SAVANT_INFO=-/194.5kb/6/3.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.593-37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLFM3+c.593-37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:102271775">View</a>	GT:AD:DP:GQ:PL:TP	0|0:164,0:164:99:0,506,7469:127	0|1:100,95:195:99:2460,0,3931:127	0|0:164,0:164:99:0,515,7557:127
1	102312412	.	G	A	2124.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41287302;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41287302" target="_blank">rs41287302</a>;ExAC.Info.AC=2602;ExAC.Info.AN=119980;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2542;ExAC.Info.AC_Hom=30;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccg/Tcg;snpeff.Amino_Acid_Change=p.Pro40Ser/c.118C>T;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338858;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370103;SAVANT_GENE=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;SAVANT_INFO=-/194.5kb/6/3.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.70-9831C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLFM3+c.70-9831C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:102312412">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,276,3207:127	0|0:123,0:123:99:0,369,4265:127	0|1:49,43:92:99:1081,0,1418:127
1	102462446	.	GTCAGT	G	13975.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs67744758;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67744758" target="_blank">rs67744758</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370103;SAVANT_GENE=OLFM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFM3" target="_blank">OLFM3</a>;SAVANT_INFO=-/194.5kb/6/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-79_-75del5;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLFM3+c.-79_-75del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:102462446">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2565,172,0:127	1|0:35,42:77:99:1653,0,2006:127	1|0:33,32:65:99:1238,0,1849:127
1	103352451	.	A	G	11450.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=567;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs2229783;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229783" target="_blank">rs2229783</a>;ExAC.Info.AC=73666;ExAC.Info.AN=126702;ExAC.Info.AF=0.581;ExAC.Info.AC_Het=27929;ExAC.Info.AC_Hom=22856;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4806A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=66;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4806A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=67;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4806A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4806A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=65;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrillar_collagen_NC1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4806A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:C-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4806A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=66;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:C-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4806A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=67;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:C-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4806A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:C-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4806A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=65;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:C-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4806A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile1602Ile/c.4806T>C;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=Ex63;SAVANT_HGVS=c.4770T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.4770T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103352451">View</a>	GT:AD:DP:GQ:PL:TP	0|0:174,0:174:99:0,523,6048:127	0|1:103,96:199:99:2863,0,3117:127	0|1:98,96:194:99:2882,0,2969:127
1	103354138	.	A	G	12914.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1676486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1676486" target="_blank">rs1676486</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Lumbar_disc_herniation|_association_with;hgmd_2014.2.OMIM_ID=120280;hgmd_2014.2.PubMed=17999364;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17999364" target="_blank">17999364</a>;ExAC.Info.AC=100692;ExAC.Info.AN=126674;ExAC.Info.AF=0.795;ExAC.Info.AC_Het=20003;ExAC.Info.AC_Hom=40182;snpeff.Effect=sequence_feature[domain:Collagen-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4639A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4639A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4639A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4639A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4639A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Cct;snpeff.Amino_Acid_Change=p.Ser1547Pro/c.4639T>C;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=Ex62;SAVANT_HGVS=c.4603T>C_p.Ser1535Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.4603T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103354138">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,39:94:99:1104,0,1456:127	0|1:53,59:112:99:1702,0,1428:127	1|1:0,87:87:99:2994,261,0:127
1	103354428	.	A	G	37983.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=865;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs1763347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1763347" target="_blank">rs1763347</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=91837;ExAC.Info.AN=126676;ExAC.Info.AF=0.725;ExAC.Info.AC_Het=22667;ExAC.Info.AC_Hom=34547;snpeff.Effect=sequence_feature[domain:Collagen-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4548A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4548A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4548A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4548A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4548A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4548A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4548A>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly1516Gly/c.4548T>C;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=Ex60;SAVANT_HGVS=c.4512T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.4512T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103354428">View</a>	GT:AD:DP:GQ:PL:TP	1|0:115,162:277:99:4553,0,2943:127	0|1:176,154:330:99:4265,0,4824:127	1|1:0,258:258:99:9049,775,0:127
1	103356072	.	CA	C	3730.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=233;MQ=70.02;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs35232764;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35232764" target="_blank">rs35232764</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4339-13delT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In57/58;SAVANT_HGVS=c.4303-13delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.4303-13delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103356072">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,36:83:99:751,0,1077:91	0|0:81,6:87:92:0,92,2133:91	1|0:26,37:63:99:856,0,541:91
1	103364618	.	A	T	3884.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs1676498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1676498" target="_blank">rs1676498</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4123-68T>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In54/55;SAVANT_HGVS=c.4087-68T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.4087-68T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103364618">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,58:113:99:1631,0,1401:127	0|0:103,0:103:99:0,310,3475:127	1|0:34,25:59:99:715,0,1035:127
1	103379918	.	G	A	6190.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|P|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs3753841;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753841" target="_blank">rs3753841</a>;ExAC.Info.AC=74873;ExAC.Info.AN=126672;ExAC.Info.AF=0.591;ExAC.Info.AC_Het=27354;ExAC.Info.AC_Hom=23401;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4004G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4004G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4004G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=Ex52;SAVANT_HGVS=c.3968C>T_p.Pro1323Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.3968C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103379918">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,375,3979:127	0|1:56,64:120:99:1758,0,1496:127	0|1:48,49:97:99:1357,0,1282:127
1	103380379	.	T	TA	2159.6	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=85;MQ=70.09;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs34228277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34228277" target="_blank">rs34228277</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3853-12_3853-13insT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In50/51;SAVANT_HGVS=c.3817-13dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.3817-13dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103380379">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,15:28:99:276,0,258:8	0|1:17,13:30:99:250,0,340:8	1|1:3,24:27:8:583,8,0:8
1	103405892	.	G	A	5365.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs17127270;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17127270" target="_blank">rs17127270</a>;ExAC.Info.AC=18543;ExAC.Info.AN=126702;ExAC.Info.AF=0.146;ExAC.Info.AC_Het=15259;ExAC.Info.AC_Hom=1634;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3411G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=Ex43;SAVANT_HGVS=c.3375C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.3375C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103405892">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,33:75:99:954,0,1193:127	1|0:43,48:91:99:1393,0,1249:127	0|0:81,0:81:99:0,243,2744:127
1	103427844	.	T	A	7628.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs55682104;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55682104" target="_blank">rs55682104</a>;ExAC.Info.AC=11948;ExAC.Info.AN=126702;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=10398;ExAC.Info.AC_Hom=765;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3061-23A>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In39/40;SAVANT_HGVS=c.3025-23A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.3025-23A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103427844">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1797,162,0:127	1|0:32,23:55:99:568,0,891:127	1|0:22,28:50:99:819,0,562:127
1	103444679	.	T	G	30710.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=396;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs11164649;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11164649" target="_blank">rs11164649</a>;ExAC.Info.AC=87387;ExAC.Info.AN=126684;ExAC.Info.AF=0.690;ExAC.Info.AC_Het=24195;ExAC.Info.AC_Hom=31392;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2647-19A>C;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.2611-19A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.2611-19A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103444679">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,141:141:99:4900,424,0:127	1|1:1,145:146:99:5104,428,0:127	1|1:0,109:109:99:3924,328,0:127
1	103461508	.	T	A	30395.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs2622867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2622867" target="_blank">rs2622867</a>;ExAC.Info.AC=120787;ExAC.Info.AN=126656;ExAC.Info.AF=0.954;ExAC.Info.AC_Het=5195;ExAC.Info.AC_Hom=57644;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2331+37A>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2332T>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2332T>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2332T>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2332T>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.2295+37A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.2295+37A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103461508">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,147:147:99:4999,442,0:127	1|1:0,150:150:99:5330,451,0:127	1|1:0,143:143:99:4940,430,0:127
1	103468336	.	A	C	1331.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=678;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);ExAC.Info.AC=39595;ExAC.Info.AN=125262;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=39018;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:Collagen-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2046A>C;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" 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target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2046A>C;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2046A>C;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2046A>C;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggG;snpeff.Amino_Acid_Change=p.Gly682Gly/c.2046T>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.2010T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.2010T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103468336">View</a>	GT:AD:DP:GQ:PL:TP	0/1:140,66:206:99:282,0,3810:127	0/1:165,74:239:99:324,0,4461:127	0/1:170,63:233:99:181,0,4581:127
1	103471456	.	CCAT	C	8534.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs71752747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71752747" target="_blank">rs71752747</a>;Clinvar.ClinicalSignificance=Uncertain_significance;Clinvar.RCVaccession=RCV000079905;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1828-12_1828-10delATG;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=55;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828_1830delCAT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1792-12_1792-10delATG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.1792-12_1792-10delATG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103471456">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000079905" target="_blank">Uncertain_significance</a> 	GT:AD:DP:GQ:PL:TP	0|0:80,1:81:99:0,198,3394:127	0|1:50,63:113:99:2410,0,1803:127	0|1:38,50:88:99:1882,0,1390:127
1	103496620	.	G	T	34559.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=431;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs7523441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7523441" target="_blank">rs7523441</a>;ExAC.Info.AC=121487;ExAC.Info.AN=126666;ExAC.Info.AF=0.959;ExAC.Info.AC_Het=4696;ExAC.Info.AC_Hom=57666;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.780+52C>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781G>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.780+52C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.780+52C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103496620">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,114:114:99:4077,343,0:127	1|1:0,175:175:99:6402,526,0:127	1|1:0,142:142:99:5115,427,0:127
1	103496805	.	GA	G	8442.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs36076089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36076089" target="_blank">rs36076089</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.652-6delT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.652delT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.652-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.652-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103496805">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,55:56:99:1291,138,0:108	1|1:4,64:68:99:1482,109,0:108	1|1:2,51:53:99:1203,116,0:108
1	103548319	.	C	G	7638.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs11164662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11164662" target="_blank">rs11164662</a>;ExAC.Info.AC=69300;ExAC.Info.AN=122580;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=23097;ExAC.Info.AC_Hom=18444;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.274+42G>C;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.275C>G;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.274+42G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.274+42G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103548319">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,232,2982:127	0|1:49,74:123:99:2513,0,1567:127	0|1:41,38:79:99:1326,0,1450:127
1	103573517	.	CTT	C	317.05	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=47;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.106+110_106+111delAA;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107_108delTT;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.106+110_106+111delAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.106+110_106+111delAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103573517">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,3:11:75:75,0,257:62	0/1:17,4:21:82:82,0,536:62	0/1:12,3:15:63:63,0,377:62
1	103573547	.	G	A	6768.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Stickler_syndrome|_type_II|_604841_(3)|_Marshall_syndrome|_154780_(3)|_{Lumbar_disc_herniation|_susceptibility_to}|_603932_(3)|_Fibrochondrogenesis|_228520_(3);dbSNP139.ID=rs6691654;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6691654" target="_blank">rs6691654</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.106+82C>T;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:N-terminal_propeptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107G>A;snpeff.Amino_Acid_length=1818;snpeff.Gene_Name=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358392;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370096;SAVANT_GENE=COL11A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL11A1" target="_blank">COL11A1</a>;SAVANT_INFO=-/232.0kb/67/7.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.106+82C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL11A1+c.106+82C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:103573547">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1038,90,0:73	1|1:0,36:36:99:1155,107,0:73	1|1:0,25:25:74:806,74,0:73
1	104076462	.	C	T	732.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6697444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6697444" target="_blank">rs6697444</a>;ExAC.Info.AC=13211;ExAC.Info.AN=21214;ExAC.Info.AF=0.623;ExAC.Info.AC_Het=4573;ExAC.Info.AC_Hom=4065;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.342C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.342C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.342C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.342C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.342C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.342C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.342C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.342C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly114Gly/c.342C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533099;SAVANT_GENE=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;SAVANT_INFO=+/29.4kb/16/3.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.342C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPC3+c.342C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:104076462">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1477:106	0|1:41,14:55:99:279,0,1466:106	0|1:31,8:39:99:107,0,1018:106
1	104076466	.	GA	G	53.58	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;cosmic68.Histology_subtype=NS;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.347delA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.347delA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.347delA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.347delA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.347delA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.347delA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.347delA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.347delA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=gaa/;snpeff.Amino_Acid_Change=p.Glu116fs/c.347delA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;LOF=(RNPC3|ENSG00000185946|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000533099;SAVANT_GENE=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;SAVANT_INFO=+/29.4kb/16/3.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.358delA;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPC3+c.358delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:104076466">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,1:34:80:0,80,857:10	0|1:52,7:59:13:13,0,1383:10	0|1:31,5:36:14:14,0,853:10
1	104076495	.	A	G	626.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6702220;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702220" target="_blank">rs6702220</a>;ExAC.Info.AC=13426;ExAC.Info.AN=21342;ExAC.Info.AF=0.629;ExAC.Info.AC_Het=4359;ExAC.Info.AC_Hom=4212;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.359+16A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533099;SAVANT_GENE=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;SAVANT_INFO=+/29.4kb/16/3.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.359+16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPC3+c.359+16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:104076495">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,1:44:91:0,91,1436:42	0|1:43,16:59:99:291,0,1341:42	0|1:35,4:39:42:42,0,1067:42
1	104076537	.	A	T	575.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6702324;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702324" target="_blank">rs6702324</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.359+58A>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.360A>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533099;SAVANT_GENE=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;SAVANT_INFO=+/29.4kb/16/3.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.359+58A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPC3+c.359+58A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:104076537">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1230:55	0|1:34,12:46:99:253,0,965:55	0|1:28,4:32:55:55,0,850:55
1	104080169	.	G	C	1214.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=53;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10736038;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10736038" target="_blank">rs10736038</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.767+63G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_binding_to_m_7_G-capped_U12_snRNA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_binding_to_m_7_G-capped_U12_snRNA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_binding_to_m_7_G-capped_U12_snRNA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_binding_to_m_7_G-capped_U12_snRNA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_PDCD7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533099;SAVANT_GENE=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;SAVANT_INFO=+/29.4kb/16/3.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.767+63G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPC3+c.767+63G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:104080169">View</a>	GT:AD:DP:GQ:PL:TP	0|0:17,0:17:51:0,51,710:51	0|1:10,11:21:99:391,0,282:51	0|1:8,7:15:99:236,0,295:51
1	104086145	.	A	G	10673.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10785725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10785725" target="_blank">rs10785725</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1045+76A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_binding_to_m_7_G-capped_U12_snRNA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_binding_to_m_7_G-capped_U12_snRNA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_binding_to_m_7_G-capped_U12_snRNA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_binding_to_m_7_G-capped_U12_snRNA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533099;SAVANT_GENE=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;SAVANT_INFO=+/29.4kb/16/3.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1045+76A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPC3+c.1045+76A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:104086145">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1499,114,0:113	1|1:0,51:51:99:1996,153,0:113	1|1:0,38:38:99:1450,114,0:113
1	104094237	.	T	TAAATTAAAAAACCATACTCCCA	973.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1495-105_1495-104insAAATTAAAAAACCATACTCCCA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1495_1496insAAATTAAAAAACCATACTCCCA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1495_1496insAAATTAAAAAACCATACTCCCA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1495_1496insAAATTAAAAAACCATACTCCCA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1495_1496insAAATTAAAAAACCATACTCCCA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1495_1496insAAATTAAAAAACCATACTCCCA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1495_1496insAAATTAAAAAACCATACTCCCA;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423855;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000533099;SAVANT_GENE=RNPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPC3" target="_blank">RNPC3</a>;SAVANT_INFO=+/29.4kb/16/3.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1495-105_1495-84dup22;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPC3+c.1495-105_1495-84dup22+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:104094237">View</a>	GT:AD:DP:GQ:PL:TP	0|0:21,0:21:64:0,64,1515:59	0|1:17,8:25:99:510,0,1126:59	0|0:20,0:20:61:0,61,1484:59
1	104116312	.	A	G	3472.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12132040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12132040" target="_blank">rs12132040</a>;ExAC.Info.AC=23092;ExAC.Info.AN=126698;ExAC.Info.AF=0.182;ExAC.Info.AC_Het=18312;ExAC.Info.AC_Hom=2385;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.514-18A>G;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=AMY2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMY2B" target="_blank">AMY2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514A>G;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=AMY2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMY2B" target="_blank">AMY2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361355;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514A>G;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=AMY2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMY2B" target="_blank">AMY2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361355;SAVANT_GENE=AMY2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMY2B" target="_blank">AMY2B</a>;SAVANT_INFO=+/24.8kb/12/2.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.514-18A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMY2B+c.514-18A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:104116312">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,279,3056:127	0|1:76,63:139:99:1755,0,2351:127	0|0:128,0:128:99:0,385,4262:127
1	104117921	.	G	A	3192.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=321;MQ=69.49;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs140978983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140978983" target="_blank">rs140978983</a>;ExAC.Info.AC=2905;ExAC.Info.AN=126704;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2800;ExAC.Info.AC_Hom=52;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly319Arg/c.955G>A;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=AMY2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMY2B" target="_blank">AMY2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361355;SAVANT_GENE=AMY2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMY2B" target="_blank">AMY2B</a>;SAVANT_INFO=+/24.8kb/12/2.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.955G>A_p.Gly319Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMY2B+c.955G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:104117921">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,276,3163:127	0|0:125,0:125:99:0,376,4405:127	0|1:42,62:104:99:1615,0,1350:127
1	107599918	.	C	T	14630.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=435;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2232016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232016" target="_blank">rs2232016</a>;ExAC.Info.AC=22105;ExAC.Info.AN=125350;ExAC.Info.AF=0.176;ExAC.Info.AC_Het=17599;ExAC.Info.AC_Hom=2167;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.581C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=PRMT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT6" target="_blank">PRMT6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.581C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=PRMT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT6" target="_blank">PRMT6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala194Val/c.581C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=PRMT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT6" target="_blank">PRMT6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370078;SAVANT_GENE=PRMT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT6" target="_blank">PRMT6</a>;SAVANT_INFO=+/2.6kb/1/2.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.581C>T_p.Ala194Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRMT6+c.581C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:107599918">View</a>	GT:AD:DP:GQ:PL:TP	0/1:85,69:154:99:1823,0,2660:127	0/1:65,86:151:99:2581,0,1996:127	0/1:70,60:130:99:1690,0,2327:127
1	107946324	.	CA	C	2063.29	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=186;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;dbSNP139.ID=rs71897263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71897263" target="_blank">rs71897263</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1061-3979delA;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061delA;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061delA;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061delA;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061delA;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370068;SAVANT_GENE=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;SAVANT_INFO=+/341.6kb/8/4.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1061-3964delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTNG1+c.1061-3964delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:107946324">View</a>	GT:AD:DP:GQ:PL	0/1:35,17:63:99:169,0,1121	./0:28,14:65:99:264,201,1483	0/1:26,25:58:99:336,0,883
1	107946324	.	CA	CAA	2063.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=186;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1061-3978_1061-3977insA;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061_1062insA;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061_1062insA;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061_1062insA;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061_1062insA;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370068;SAVANT_GENE=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;SAVANT_INFO=+/341.6kb/8/4.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1061-3964dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTNG1+c.1061-3964dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:107946324">View</a>	GT:AD:DP:GQ:PL	./0:35,11:63:99:169,136,970	0/1:28,23:65:99:264,0,623	./0:26,7:58:99:336,396,1113
1	107979396	.	A	C	75320.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1005;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs480392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=480392" target="_blank">rs480392</a>;ExAC.Info.AC=122726;ExAC.Info.AN=124490;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1455;ExAC.Info.AC_Hom=60416;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365A>C;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365A>C;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365A>C;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly455Gly/c.1365A>C;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370068;SAVANT_GENE=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;SAVANT_INFO=+/341.6kb/8/4.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1365A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTNG1+c.1365A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:107979396">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,326:326:99:11594,980,0:127	1|1:1,408:409:99:13906,1190,0:127	1|1:0,270:270:99:9785,811,0:127
1	108023589	.	A	C	9360.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=795;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4915045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4915045" target="_blank">rs4915045</a>;ExAC.Info.AC=925;ExAC.Info.AN=37542;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=266;ExAC.Info.AC_Hom=9;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=127;snpeff.Amino_Acid_Change=c.*127A>C;snpeff.Amino_Acid_length=539;snpeff.Gene_Name=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370073;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370068;SAVANT_GENE=NTNG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTNG1" target="_blank">NTNG1</a>;SAVANT_INFO=+/341.6kb/8/4.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*127A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTNG1+c.*127A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108023589">View</a>	GT:AD:DP:GQ:PL:TP	0|0:236,0:236:99:0,709,7716:127	0|1:143,178:321:99:4699,0,3971:127	0|0:238,0:238:99:0,715,8149:127
1	108160260	.	GA	G	2305.84	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=394;MQ=70.02;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs5776894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5776894" target="_blank">rs5776894</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1915-7delT;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1915delA;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1915delA;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1915delA;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1915delT;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370056;SAVANT_GENE=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;SAVANT_INFO=-/394.0kb/27/5.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.1915-7delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAV3+c.1915-7delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108160260">View</a>	GT:AD:DP:GQ:PL:TP	0|0:119,14:133:13:0,13,2723:13	0|0:136,6:142:99:0,259,3390:13	0|1:62,57:119:99:1176,0,1295:13
1	108185301	.	C	G	5764.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12403266;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12403266" target="_blank">rs12403266</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=19468;ExAC.Info.AN=126700;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=16121;ExAC.Info.AC_Hom=1659;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1854C>G;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1854C>G;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1854C>G;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caC;snpeff.Amino_Acid_Change=p.Gln618His/c.1854G>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370056;SAVANT_GENE=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;SAVANT_INFO=-/394.0kb/27/5.0kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.1854G>C_p.Gln618His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAV3+c.1854G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108185301">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,20:44:99:545,0,781:127	0/1:22,27:49:99:1115,0,627:127	0/1:15,16:31:99:524,0,467:127
1	108185309	.	G	A	1380.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12410676;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12410676" target="_blank">rs12410676</a>;ExAC.Info.AC=17130;ExAC.Info.AN=126698;ExAC.Info.AF=0.135;ExAC.Info.AC_Het=14454;ExAC.Info.AC_Hom=1323;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro616Ser/c.1846C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370056;SAVANT_GENE=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;SAVANT_INFO=-/394.0kb/27/5.0kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.1846C>T_p.Pro616Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAV3+c.1846C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108185309">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,141,2104:104	0|1:25,27:52:99:709,0,1363:104	0|0:35,0:35:99:0,105,1569:104
1	108292260	.	A	G	7571.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs6672483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6672483" target="_blank">rs6672483</a>;ExAC.Info.AC=88337;ExAC.Info.AN=126592;ExAC.Info.AF=0.698;ExAC.Info.AC_Het=24085;ExAC.Info.AC_Hom=31317;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1260-44T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1260A>G;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370056;SAVANT_GENE=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;SAVANT_INFO=-/394.0kb/27/5.0kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1260-44T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAV3+c.1260-44T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108292260">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,21:50:99:556,0,784:127	1|1:0,60:60:99:2237,180,0:127	0|1:28,22:50:99:689,0,781:127
1	108299807	.	G	GTA	533.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=97;MQ=69.66;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1086+76_1086+75insTA;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087_1088insTA;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087_1088insTA;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087_1088insTA;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087_1088insTA;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087_1088insTA;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087_1088insTA;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087_1088insTA;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370056;SAVANT_GENE=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;SAVANT_INFO=-/394.0kb/27/5.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1086+75_1086+76insTA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAV3+c.1086+75_1086+76insTA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108299807">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,8:24:99:179,0,641:127	0|0:42,0:42:99:0,129,1742:127	1|0:23,8:31:68:68,0,946:127
1	108299809	.	G	A	4310.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=119;MQ=69.68;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12138353;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12138353" target="_blank">rs12138353</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1086+74C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1087G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370056;SAVANT_GENE=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;SAVANT_INFO=-/394.0kb/27/5.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1086+74C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAV3+c.1086+74C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108299809">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,12:28:99:456,0,552:127	0/1:24,21:45:99:476,0,893:127	0/1:23,23:46:99:835,0,807:127
1	108307727	.	T	A	19632.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7528153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7528153" target="_blank">rs7528153</a>;ExAC.Info.AC=74757;ExAC.Info.AN=126700;ExAC.Info.AF=0.590;ExAC.Info.AC_Het=27824;ExAC.Info.AC_Hom=23417;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.892T>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.892T>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.892T>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.892T>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.892T>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.892T>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.892T>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Tca;snpeff.Amino_Acid_Change=p.Thr298Ser/c.892A>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370056;SAVANT_GENE=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;SAVANT_INFO=-/394.0kb/27/5.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.892A>T_p.Thr298Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAV3+c.892A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108307727">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,99:99:99:3031,297,0:127	1|0:64,66:130:99:1820,0,1576:127	1|1:0,95:95:99:3200,285,0:127
1	108313258	.	C	T	16683.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=277;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6583048;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6583048" target="_blank">rs6583048</a>;ExAC.Info.AC=92414;ExAC.Info.AN=126670;ExAC.Info.AF=0.730;ExAC.Info.AC_Het=24002;ExAC.Info.AC_Hom=34156;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys216Lys/c.648G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370056;SAVANT_GENE=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;SAVANT_INFO=-/394.0kb/27/5.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.648G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAV3+c.648G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108313258">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3150,285,0:127	1|0:40,40:80:99:1019,0,1230:127	1|1:0,102:102:99:3368,306,0:127
1	108315305	.	C	T	17861.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4611048;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4611048" target="_blank">rs4611048</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.555+52G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527011;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370056;SAVANT_GENE=VAV3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAV3" target="_blank">VAV3</a>;SAVANT_INFO=-/394.0kb/27/5.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.555+52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAV3+c.555+52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108315305">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2447,219,0:127	1|1:0,101:101:99:3574,304,0:127	1|1:0,74:74:99:2626,223,0:127
1	108703834	.	C	T	5093.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11185293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11185293" target="_blank">rs11185293</a>;ExAC.Info.AC=8086;ExAC.Info.AN=126700;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=7451;ExAC.Info.AC_Hom=316;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.480C>T;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.480C>T;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.480C>T;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.480C>T;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.480C>T;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu160Glu/c.480G>A;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264128;SAVANT_GENE=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;SAVANT_INFO=-/65.5kb/10/3.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.480G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC25A24+c.480G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108703834">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,25:46:99:706,0,646:127	0|0:75,0:75:99:0,225,2690:127	1|1:0,48:48:99:1666,144,0:127
1	108724518	.	A	G	12569.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs490680;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=490680" target="_blank">rs490680</a>;ExAC.Info.AC=84868;ExAC.Info.AN=126700;ExAC.Info.AF=0.670;ExAC.Info.AC_Het=26898;ExAC.Info.AC_Hom=28833;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.398+45T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264128;SAVANT_GENE=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;SAVANT_INFO=-/65.5kb/10/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.398+45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC25A24+c.398+45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108724518">View</a>	GT:AD:DP:GQ:PL:TP	0|1:69,46:115:99:1332,0,1839:127	1|1:0,119:119:99:4115,357,0:127	0|0:124,0:124:99:0,373,4257:127
1	108724541	.	T	C	3926.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=393;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17514537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17514537" target="_blank">rs17514537</a>;ExAC.Info.AC=2476;ExAC.Info.AN=126702;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=2404;ExAC.Info.AC_Hom=36;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.398+22A>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264128;SAVANT_GENE=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;SAVANT_INFO=-/65.5kb/10/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.398+22A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC25A24+c.398+22A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108724541">View</a>	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,370,4111:127	0|0:131,0:131:99:0,394,4395:127	0|1:74,65:139:99:1982,0,2052:127
1	108728484	.	T	C	5850.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs862493;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=862493" target="_blank">rs862493</a>;ExAC.Info.AC=23968;ExAC.Info.AN=126544;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=18335;ExAC.Info.AC_Hom=2203;snpeff.Effect=sequence_feature[domain:EF-hand_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys92Lys/c.276A>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000565488;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264128;SAVANT_GENE=SLC25A24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A24" target="_blank">SLC25A24</a>;SAVANT_INFO=-/65.5kb/10/3.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.276A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC25A24+c.276A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108728484">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,23:59:99:651,0,995:127	1|0:65,59:124:99:1644,0,1861:127	0|0:99,0:99:99:0,297,3290:127
1	108766424	.	A	G	9763.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=294;MQ=63.56;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3879436;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3879436" target="_blank">rs3879436</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1876-56T>C;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=NBPF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF4" target="_blank">NBPF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000415641;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000415641;SAVANT_GENE=NBPF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF4" target="_blank">NBPF4</a>;SAVANT_INFO=-/20.7kb/15/2.5kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1876-56T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF4+c.1876-56T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108766424">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,43:93:99:1227,0,1255:127	0|0:114,0:114:99:0,342,3896:127	1|1:0,87:87:99:3226,262,0:127
1	108771721	.	T	C	4711.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=242;MQ=62.16;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs79996376;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79996376" target="_blank">rs79996376</a>;ExAC.Info.AC=4090;ExAC.Info.AN=30492;ExAC.Info.AF=0.134;ExAC.Info.AC_Het=3934;ExAC.Info.AC_Hom=10;snpeff.Effect=sequence_feature[domain:NBPF_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1481T>C;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=NBPF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF4" target="_blank">NBPF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000415641;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1481T>C;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=NBPF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF4" target="_blank">NBPF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000415641;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1481T>C;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=NBPF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF4" target="_blank">NBPF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000415641;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NBPF_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1481T>C;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=NBPF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF4" target="_blank">NBPF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000415641;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln494Arg/c.1481A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=NBPF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF4" target="_blank">NBPF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000415641;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000415641;SAVANT_GENE=NBPF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF4" target="_blank">NBPF4</a>;SAVANT_INFO=-/20.7kb/15/2.5kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1481A>G_p.Gln494Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF4+c.1481A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:108771721">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,27:78:99:602,0,1496:127	1|0:58,50:108:99:1189,0,1754:127	0|0:56,0:56:99:0,168,1800:127
1	109001603	.	T	A	45.16	PASS	InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=1;MQ=29.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=./.;dbSNP139.ID=rs201315189;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201315189" target="_blank">rs201315189</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1064-77T>A;snpeff.Amino_Acid_length=667;snpeff.Gene_Name=NBPF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF6" target="_blank">NBPF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370040;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444143;SAVANT_GENE=NBPF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF6" target="_blank">NBPF6</a>;SAVANT_INFO=+/95.2kb/15/2.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.977-77T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF6+c.977-77T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109001603">View</a>	GT:AD:DP:GQ:PL	./.	./.	1|1:0,1:1:3:34,3,0
1	109001689	.	G	A	114.05	PASS	InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=2;MQ=29.50;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=./.;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201936153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201936153" target="_blank">rs201936153</a>;ExAC.Info.AC=170;ExAC.Info.AN=1468;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=26;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser358Asn/c.1073G>A;snpeff.Amino_Acid_length=667;snpeff.Gene_Name=NBPF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF6" target="_blank">NBPF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370040;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444143;SAVANT_GENE=NBPF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF6" target="_blank">NBPF6</a>;SAVANT_INFO=+/95.2kb/15/2.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.986G>A_p.Ser329Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF6+c.986G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109001689">View</a>	GT:AD:DP:GQ:PL	./.	./.	1|1:0,2:2:6:69,6,0
1	109255513	.	G	T	19827.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3006864;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3006864" target="_blank">rs3006864</a>;ExAC.Info.AC=22575;ExAC.Info.AN=24254;ExAC.Info.AF=0.931;ExAC.Info.AC_Het=1071;ExAC.Info.AC_Hom=9967;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370017;SAVANT_GENE=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;SAVANT_INFO=+/30.1kb/13/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-43G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FNDC7+c.-43G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109255513">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2122,177,0:127	1|1:0,85:85:99:3239,256,0:127	1|1:0,67:67:99:2403,201,0:127
1	109260357	.	G	A	12849.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4970804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4970804" target="_blank">rs4970804</a>;ExAC.Info.AC=15788;ExAC.Info.AN=26364;ExAC.Info.AF=0.599;ExAC.Info.AC_Het=5313;ExAC.Info.AC_Hom=4831;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.86-42G>A;snpeff.Amino_Acid_length=734;snpeff.Gene_Name=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271311;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370017;SAVANT_GENE=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;SAVANT_INFO=+/30.1kb/13/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.83-42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FNDC7+c.83-42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109260357">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,47:102:99:1373,0,1627:127	0|0:145,0:145:99:0,436,5045:127	1|1:0,111:111:99:4090,333,0:127
1	109261509	.	A	G	3044.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=480;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17553619;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17553619" target="_blank">rs17553619</a>;ExAC.Info.AC=2042;ExAC.Info.AN=27678;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=1769;ExAC.Info.AC_Hom=98;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile147Val/c.439A>G;snpeff.Amino_Acid_length=734;snpeff.Gene_Name=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271311;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370017;SAVANT_GENE=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;SAVANT_INFO=+/30.1kb/13/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.436A>G_p.Ile146Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FNDC7+c.436A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109261509">View</a>	GT:AD:DP:GQ:PL:TP	0|0:150,0:150:99:0,450,5230:127	0|0:181,0:181:99:0,544,6390:127	0|1:89,60:149:99:1541,0,2745:127
1	109265029	.	G	T	7565.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4423040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4423040" target="_blank">rs4423040</a>;ExAC.Info.AC=76967;ExAC.Info.AN=126698;ExAC.Info.AF=0.607;ExAC.Info.AC_Het=28207;ExAC.Info.AC_Hom=24342;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cTg;snpeff.Amino_Acid_Change=p.Arg225Leu/c.674G>T;snpeff.Amino_Acid_length=734;snpeff.Gene_Name=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271311;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370017;SAVANT_GENE=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;SAVANT_INFO=+/30.1kb/13/3.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.671G>T_p.Arg224Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FNDC7+c.671G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109265029">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,35:58:99:1035,0,659:127	0|0:89,0:89:99:0,268,3101:127	1|1:0,68:68:99:2391,204,0:127
1	109268573	.	T	C	20228.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4494160;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4494160" target="_blank">rs4494160</a>;ExAC.Info.AC=82576;ExAC.Info.AN=126704;ExAC.Info.AF=0.652;ExAC.Info.AC_Het=26299;ExAC.Info.AC_Hom=28136;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gCc;snpeff.Amino_Acid_Change=p.Val354Ala/c.1061T>C;snpeff.Amino_Acid_length=734;snpeff.Gene_Name=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271311;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370017;SAVANT_GENE=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;SAVANT_INFO=+/30.1kb/13/3.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1058T>C_p.Val353Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FNDC7+c.1058T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109268573">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2782,237,0:127	1|1:2,94:96:99:3298,239,0:127	1|0:49,58:107:99:1677,0,1368:127
1	109273456	.	A	G	21399.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=504;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4970809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4970809" target="_blank">rs4970809</a>;ExAC.Info.AC=62433;ExAC.Info.AN=126700;ExAC.Info.AF=0.493;ExAC.Info.AC_Het=30766;ExAC.Info.AC_Hom=15832;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly596Gly/c.1788A>G;snpeff.Amino_Acid_length=734;snpeff.Gene_Name=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271311;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370017;SAVANT_GENE=FNDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNDC7" target="_blank">FNDC7</a>;SAVANT_INFO=+/30.1kb/13/3.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1785A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FNDC7+c.1785A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109273456">View</a>	GT:AD:DP:GQ:PL:TP	0|1:86,63:149:99:1861,0,2421:127	1|1:1,204:205:99:7354,578,0:127	0|0:150,0:150:99:0,451,5332:127
1	109289353	.	C	G	10263.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1124427;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1124427" target="_blank">rs1124427</a>;ExAC.Info.AC=39790;ExAC.Info.AN=70786;ExAC.Info.AF=0.562;ExAC.Info.AC_Het=4887;ExAC.Info.AC_Hom=5861;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=7;snpeff.Amino_Acid_Change=c.-7C>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370008;SAVANT_GENE=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;SAVANT_INFO=+/62.8kb/19/2.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-7C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STXBP3+c.-7C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109289353">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1079,93,0:110	1|1:0,40:40:99:1487,120,0:110	1|1:0,37:37:99:1235,111,0:110
1	109289487	.	C	T	4125.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=51;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6604120;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6604120" target="_blank">rs6604120</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.49+79C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370008;SAVANT_GENE=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;SAVANT_INFO=+/62.8kb/19/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.49+79C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STXBP3+c.49+79C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109289487">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:625,57,0:41	1|1:0,18:18:54:659,54,0:41	1|1:0,14:14:42:494,42,0:41
1	109299453	.	C	G	6652.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1277044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1277044" target="_blank">rs1277044</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.258+65C>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259C>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259C>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259C>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259C>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259C>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259C>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259C>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259C>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259C>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370008;SAVANT_GENE=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;SAVANT_INFO=+/62.8kb/19/2.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.258+65C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STXBP3+c.258+65C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109299453">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,17:17:51:643,51,0:56	1|1:0,30:30:90:1228,90,0:56	1|1:0,19:19:57:805,57,0:56
1	109301250	.	G	C	18631.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1277042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1277042" target="_blank">rs1277042</a>;ExAC.Info.AC=84400;ExAC.Info.AN=126088;ExAC.Info.AF=0.669;ExAC.Info.AC_Het=22547;ExAC.Info.AC_Hom=26977;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.337+40G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DOC2B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370008;SAVANT_GENE=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;SAVANT_INFO=+/62.8kb/19/2.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.337+40G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STXBP3+c.337+40G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109301250">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2414,204,0:127	1|1:0,82:82:99:3040,247,0:127	1|1:0,90:90:99:3170,270,0:127
1	109325028	.	T	C	3572.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1277051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1277051" target="_blank">rs1277051</a>;ExAC.Info.AC=27610;ExAC.Info.AN=126674;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=20716;ExAC.Info.AC_Hom=3383;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.810-16T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370008;SAVANT_GENE=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;SAVANT_INFO=+/62.8kb/19/2.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.810-16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STXBP3+c.810-16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109325028">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,19:30:99:597,0,351:83	0|0:44,0:44:99:0,132,1630:83	1|1:0,28:28:84:1039,84,0:83
1	109338861	.	G	C	7024.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1127635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1127635" target="_blank">rs1127635</a>;ExAC.Info.AC=49875;ExAC.Info.AN=126682;ExAC.Info.AF=0.394;ExAC.Info.AC_Het=29680;ExAC.Info.AC_Hom=10014;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu372Leu/c.1116G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370008;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370008;SAVANT_GENE=STXBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STXBP3" target="_blank">STXBP3</a>;SAVANT_INFO=+/62.8kb/19/2.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1116G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STXBP3+c.1116G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109338861">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,33:76:99:955,0,1221:127	1|1:0,68:68:99:2314,204,0:127	0|0:76,0:76:99:0,228,2645:127
1	109358755	.	A	AT	14248.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=437;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11453763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11453763" target="_blank">rs11453763</a>;ExAC.Info.AC=50161;ExAC.Info.AN=126652;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=29401;ExAC.Info.AC_Hom=10149;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=37;snpeff.Amino_Acid_Change=c.*37_*38insA;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370001;SAVANT_GENE=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;SAVANT_INFO=-/41.2kb/16/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*37dupA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKNAD1+c.*37dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109358755">View</a>	GT:AD:DP:GQ:PL:TP	0|1:75,75:150:99:1835,0,1774:127	1|1:1,161:162:99:4895,461,0:127	0|0:125,0:125:99:0,376,3698:127
1	109366286	.	C	T	9534.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7522157;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7522157" target="_blank">rs7522157</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=32465;ExAC.Info.AN=126702;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=23164;ExAC.Info.AC_Hom=4652;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tAt;snpeff.Amino_Acid_Change=p.Cys654Tyr/c.1961G>A;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370001;SAVANT_GENE=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;SAVANT_INFO=-/41.2kb/16/3.1kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1961G>A_p.Cys654Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKNAD1+c.1961G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109366286">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,50:98:99:1315,0,1379:127	1|0:70,80:150:99:2147,0,2074:127	0|0:137,0:137:99:0,412,4717:127
1	109369915	.	G	T	14853.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7551421;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7551421" target="_blank">rs7551421</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=69609;ExAC.Info.AN=126608;ExAC.Info.AF=0.550;ExAC.Info.AC_Het=28681;ExAC.Info.AC_Hom=20435;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaC/aaA;snpeff.Amino_Acid_Change=p.Asn616Lys/c.1848C>A;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370001;SAVANT_GENE=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;SAVANT_INFO=-/41.2kb/16/3.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1848C>A_p.Asn616Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKNAD1+c.1848C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109369915">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2487,246,0:127	1|1:0,78:78:99:2617,234,0:127	1|0:51,36:87:99:876,0,1411:127
1	109377070	.	C	A	2421.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12060255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12060255" target="_blank">rs12060255</a>;ExAC.Info.AC=13976;ExAC.Info.AN=126604;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=11209;ExAC.Info.AC_Hom=754;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1745G>T;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gTg;snpeff.Amino_Acid_Change=p.Gly582Val/c.1745G>T;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370001;SAVANT_GENE=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;SAVANT_INFO=-/41.2kb/16/3.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1745G>T_p.Gly582Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKNAD1+c.1745G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109377070">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,14:31:99:427,0,526:127	0|0:55,0:55:99:0,165,1947:127	1|0:12,16:28:99:490,0,368:127
1	109377157	.	TA	T	7550.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.500;AN=4;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=0/1;dbSNP139.ID=rs5776950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5776950" target="_blank">rs5776950</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1665-8delT;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1665delT;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370001;SAVANT_GENE=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;SAVANT_INFO=-/41.2kb/16/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1665-8delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKNAD1+c.1665-8delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109377157">View</a>	GT:AD:DP:GQ:PL	./0:37,4:55:99:184,256,1351	0/1:32,38:70:99:1369,0,682	./1:2,43:79:99:1601,793,1118
1	109377157	.	TA	TAA	7550.98	PASS	InheritancePattern=Normal;AC=2;AF=0.500;AN=4;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=./0;dbSNP139.ID=rs5776950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5776950" target="_blank">rs5776950</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1665-8_1665-9insT;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370001;SAVANT_GENE=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;SAVANT_INFO=-/41.2kb/16/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1665-8dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKNAD1+c.1665-8dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109377157">View</a>	GT:AD:DP:GQ:PL	0/1:37,14:55:99:184,0,834	./0:32,0:70:99:1369,1481,2251	./1:2,34:79:99:1601,958,1221
1	109377159	.	A	G	1942.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs200066791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200066791" target="_blank">rs200066791</a>;ExAC.Info.AC=4591;ExAC.Info.AN=36700;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=3414;ExAC.Info.AC_Hom=104;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1665-9T>C;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370001;SAVANT_GENE=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;SAVANT_INFO=-/41.2kb/16/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1665-9T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKNAD1+c.1665-9T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109377159">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,3052:127	0|1:53,33:86:99:990,0,1845:127	0|0:99,0:99:99:0,297,3483:127
1	109391486	.	G	A	12595.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1149142;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1149142" target="_blank">rs1149142</a>;ExAC.Info.AC=126182;ExAC.Info.AN=126612;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=395;ExAC.Info.AC_Hom=62556;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1182+48C>T;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1183G>A;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1183G>A;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1183G>A;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1183G>A;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370001;SAVANT_GENE=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;SAVANT_INFO=-/41.2kb/16/3.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1182+48C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKNAD1+c.1182+48C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109391486">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1437,138,0:127	1|1:0,68:68:99:2382,204,0:127	1|1:0,52:52:99:1892,156,0:127
1	109394564	.	T	C	23537.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=652;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs17030016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17030016" target="_blank">rs17030016</a>;ExAC.Info.AC=7437;ExAC.Info.AN=126704;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=6829;ExAC.Info.AC_Hom=304;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala241Ala/c.723A>G;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370001;SAVANT_GENE=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;SAVANT_INFO=-/41.2kb/16/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.723A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKNAD1+c.723A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109394564">View</a>	GT:AD:DP:GQ:PL:TP	1|0:101,88:189:99:2349,0,2905:127	0|0:225,0:225:99:0,676,7947:127	1|1:0,238:238:99:8075,714,0:127
1	109394978	.	G	A	5099.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=572;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17563390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17563390" target="_blank">rs17563390</a>;ExAC.Info.AC=16705;ExAC.Info.AN=126704;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=14500;ExAC.Info.AC_Hom=1101;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp103Asp/c.309C>T;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370001;SAVANT_GENE=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;SAVANT_INFO=-/41.2kb/16/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.309C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKNAD1+c.309C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109394978">View</a>	GT:AD:DP:GQ:PL:TP	0|0:185,0:185:99:0,556,6620:127	0|1:109,86:195:99:2569,0,3326:127	0|0:192,0:192:99:0,577,6894:127
1	109395105	.	C	T	22738.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=623;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1277207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1277207" target="_blank">rs1277207</a>;ExAC.Info.AC=105493;ExAC.Info.AN=126696;ExAC.Info.AF=0.833;ExAC.Info.AC_Het=17549;ExAC.Info.AC_Hom=43935;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser61Asn/c.182G>A;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370001;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370001;SAVANT_GENE=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;SAVANT_INFO=-/41.2kb/16/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.182G>A_p.Ser61Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKNAD1+c.182G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109395105">View</a>	GT:AD:DP:GQ:PL:TP	0|1:90,112:202:99:3285,0,2773:127	1|1:0,207:207:99:7335,621,0:127	0|0:214,0:214:99:0,643,7861:127
1	109428249	.	G	A	5262.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Chudley-McCullough_syndrome|_604213_(3)|Chudley-McCullough_syndrome|_604213_(3);dbSNP139.ID=rs10857987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10857987" target="_blank">rs10857987</a>;ExAC.Info.AC=35764;ExAC.Info.AN=126664;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=24240;ExAC.Info.AC_Hom=5730;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.56+49G>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=GPSM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000406462;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000406462;SAVANT_GENE=GPSM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPSM2" target="_blank">GPSM2</a>;SAVANT_INFO=+/55.1kb/16/3.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.56+49G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPSM2+c.56+49G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109428249">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,32:50:99:1003,0,530:127	0|0:55,0:55:99:0,165,2189:127	1|1:0,48:48:99:1796,144,0:127
1	109465165	.	ACTT	A	45940.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1115;MQ=70.01;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Chudley-McCullough_syndrome|_604213_(3)|Chudley-McCullough_syndrome|_604213_(3);dbSNP139.ID=rs35029887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35029887" target="_blank">rs35029887</a>;ExAC.Info.AC=36778;ExAC.Info.AN=126700;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=24478;ExAC.Info.AC_Hom=6141;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=acttct/act;snpeff.Amino_Acid_Change=p.Thr523_Ser524del/c.1568_1570delCTT;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=GPSM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000406462;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000406462;SAVANT_GENE=GPSM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPSM2" target="_blank">GPSM2</a>;SAVANT_INFO=+/55.1kb/16/3.3kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1572_1574delTTC_p.Ser525del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPSM2+c.1572_1574delTTC+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109465165">View</a>	GT:AD:DP:GQ:PL:TP	1|0:176,164:340:99:6233,0,6893:127	0|0:424,1:425:99:0,1232,19028:127	1|1:0,350:350:99:15542,1055,0:127
1	109479978	.	G	T	11888.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Chudley-McCullough_syndrome|_604213_(3)|Chudley-McCullough_syndrome|_604213_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs168107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=168107" target="_blank">rs168107</a>;ExAC.Info.AC=34939;ExAC.Info.AN=126696;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=23602;ExAC.Info.AC_Hom=5614;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agC/agA;snpeff.Amino_Acid_Change=p.Ser368Arg/c.1104C>A;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369971;SAVANT_GENE=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCC1" target="_blank">CLCC1</a>;SAVANT_INFO=-/34.0kb/12/4.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1104C>A_p.Ser368Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCC1+c.1104C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109479978">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,61:120:99:1654,0,1522:127	0|0:181,0:181:99:0,542,5887:127	1|1:0,74:74:99:2680,222,0:127
1	109482220	.	C	T	3714.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=100;MQ=69.94;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Chudley-McCullough_syndrome|_604213_(3)|Chudley-McCullough_syndrome|_604213_(3);dbSNP139.ID=rs338480;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=338480" target="_blank">rs338480</a>;ExAC.Info.AC=26267;ExAC.Info.AN=126574;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=18569;ExAC.Info.AC_Hom=2647;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1041+38G>A;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042C>T;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042C>T;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369971;SAVANT_GENE=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCC1" target="_blank">CLCC1</a>;SAVANT_INFO=-/34.0kb/12/4.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1041+38G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCC1+c.1041+38G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109482220">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,21:34:99:619,0,421:77	0|0:40,0:40:99:0,120,1574:77	1|1:0,26:26:78:1041,78,0:77
1	109482826	.	C	T	10651.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Chudley-McCullough_syndrome|_604213_(3)|Chudley-McCullough_syndrome|_604213_(3);dbSNP139.ID=rs338479;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=338479" target="_blank">rs338479</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.797-62G>A;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369971;SAVANT_GENE=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCC1" target="_blank">CLCC1</a>;SAVANT_INFO=-/34.0kb/12/4.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.797-62G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCC1+c.797-62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109482826">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,50:90:99:1365,0,1081:127	0|0:121,0:121:99:0,364,4706:127	1|1:0,108:108:99:3737,324,0:127
1	109486196	.	A	G	37223.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=471;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Chudley-McCullough_syndrome|_604213_(3)|Chudley-McCullough_syndrome|_604213_(3);dbSNP139.ID=rs338466;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=338466" target="_blank">rs338466</a>;ExAC.Info.AC=66760;ExAC.Info.AN=126704;ExAC.Info.AF=0.527;ExAC.Info.AC_Het=31034;ExAC.Info.AC_Hom=17852;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.603A>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.603A>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr201Thr/c.603T>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369971;SAVANT_GENE=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCC1" target="_blank">CLCC1</a>;SAVANT_INFO=-/34.0kb/12/4.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.603T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCC1+c.603T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109486196">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,167:167:99:5598,502,0:127	1|1:0,160:160:99:5328,481,0:127	1|1:0,144:144:99:4814,433,0:127
1	109486240	.	TA	T	34001.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=422;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Chudley-McCullough_syndrome|_604213_(3)|Chudley-McCullough_syndrome|_604213_(3);dbSNP139.ID=rs3215062;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215062" target="_blank">rs3215062</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.562-4delT;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562delA;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562delA;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562delT;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369971;SAVANT_GENE=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCC1" target="_blank">CLCC1</a>;SAVANT_INFO=-/34.0kb/12/4.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.562-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCC1+c.562-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109486240">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,143:143:99:4844,430,0:127	1|1:0,150:150:99:5013,450,0:127	1|1:0,129:129:99:4333,388,0:127
1	109486269	.	C	A	12780.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Chudley-McCullough_syndrome|_604213_(3)|Chudley-McCullough_syndrome|_604213_(3);dbSNP139.ID=rs41336244;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41336244" target="_blank">rs41336244</a>;ExAC.Info.AC=6613;ExAC.Info.AN=126696;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=6153;ExAC.Info.AC_Hom=224;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.562-32G>T;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>A;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562C>A;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKNAD1" target="_blank">AKNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356970;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369971;SAVANT_GENE=CLCC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCC1" target="_blank">CLCC1</a>;SAVANT_INFO=-/34.0kb/12/4.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.562-32G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CLCC1+c.562-32G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109486269">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,73:127:99:1984,0,1493:127	0|0:143,0:143:99:0,429,5214:127	1|1:0,112:112:99:3853,337,0:127
1	109633377	.	C	G	3950.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs528661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=528661" target="_blank">rs528661</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.104G>C;snpeff.Gene_Name=RP5-1065J22.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1065J228" target="_blank">RP5-1065J228</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608574;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=118;snpeff.Amino_Acid_Change=c.-118C>G;snpeff.Amino_Acid_length=74;snpeff.Gene_Name=TMEM167B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1065J228" target="_blank">RP5-1065J228</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338272;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338272;SAVANT_GENE=TMEM167B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM167B" target="_blank">TMEM167B</a>;SAVANT_INFO=+/6.2kb/3/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-118C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM167B+c.-118C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109633377">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,18:42:99:577,0,774:127	1|0:31,29:60:99:865,0,958:127	0|0:45,0:45:99:0,135,1676:127
1	109650484	.	GA	G	166.0	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=65;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.198+58delT;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=C1orf194;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf194" target="_blank">C1orf194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369948;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369949;SAVANT_GENE=C1orf194;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf194" target="_blank">C1orf194</a>;SAVANT_INFO=-/7.9kb/5/0.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.162+58delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf194+c.162+58delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109650484">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,4:16:57:57,0,269:28	1|0:20,5:25:41:41,0,450:28	0|0:21,3:24:28:0,28,512:28
1	109656946	.	T	C	5441.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs667524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=667524" target="_blank">rs667524</a>;ExAC.Info.AC=50931;ExAC.Info.AN=125648;ExAC.Info.AF=0.405;ExAC.Info.AC_Het=22131;ExAC.Info.AC_Hom=8643;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His47His/c.141T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369939;SAVANT_GENE=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;SAVANT_INFO=+/89.2kb/22/3.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.141T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1324+c.141T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109656946">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,28:63:99:760,0,1030:127	1|0:45,34:79:99:980,0,1407:127	0|0:58,1:59:99:0,141,2070:127
1	109656981	.	T	C	5463.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs586530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=586530" target="_blank">rs586530</a>;ExAC.Info.AC=27340;ExAC.Info.AN=123028;ExAC.Info.AF=0.222;ExAC.Info.AC_Het=10387;ExAC.Info.AC_Hom=2510;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.153+23T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369939;SAVANT_GENE=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;SAVANT_INFO=+/89.2kb/22/3.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.153+23T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1324+c.153+23T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109656981">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,34:70:99:890,0,813:127	1|0:47,35:82:99:943,0,1246:127	0|0:69,0:69:99:0,207,2091:127
1	109704618	.	A	G	15082.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs678238;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=678238" target="_blank">rs678238</a>;ExAC.Info.AC=126526;ExAC.Info.AN=126692;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=158;ExAC.Info.AC_Hom=62696;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile86Val/c.256A>G;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369939;SAVANT_GENE=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;SAVANT_INFO=+/89.2kb/22/3.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.256A>G_p.Ile86Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1324+c.256A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109704618">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1571,123,0:127	1|1:0,59:59:99:2254,177,0:127	1|1:0,59:59:99:2174,177,0:127
1	109735298	.	T	C	20832.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs658779;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=658779" target="_blank">rs658779</a>;ExAC.Info.AC=99355;ExAC.Info.AN=126704;ExAC.Info.AF=0.784;ExAC.Info.AC_Het=19083;ExAC.Info.AC_Hom=40130;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly583Gly/c.1749T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369939;SAVANT_GENE=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;SAVANT_INFO=+/89.2kb/22/3.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1749T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1324+c.1749T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109735298">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,87:88:99:2907,237,0:127	1|1:0,84:84:99:2987,253,0:127	1|1:0,79:79:99:2780,237,0:127
1	109735416	.	A	C	15284.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs659543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=659543" target="_blank">rs659543</a>;ExAC.Info.AC=99285;ExAC.Info.AN=126702;ExAC.Info.AF=0.784;ExAC.Info.AC_Het=19113;ExAC.Info.AC_Hom=40025;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867A>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867A>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867A>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867A>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1867A>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" 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target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369939;SAVANT_GENE=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;SAVANT_INFO=+/89.2kb/22/3.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1867A>C_p.Thr623Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1324+c.1867A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109735416">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1824,159,0:127	1|1:0,79:79:99:2707,237,0:127	1|1:0,61:61:99:2120,183,0:127
1	109737090	.	G	A	11380.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2359245;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2359245" target="_blank">rs2359245</a>;ExAC.Info.AC=98621;ExAC.Info.AN=126704;ExAC.Info.AF=0.778;ExAC.Info.AC_Het=19352;ExAC.Info.AC_Hom=39632;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1995G>A;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" 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target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1995G>A;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1995G>A;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1995G>A;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro665Pro/c.1995G>A;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369939;SAVANT_GENE=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;SAVANT_INFO=+/89.2kb/22/3.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1995G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1324+c.1995G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109737090">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1738,153,0:95	1|1:0,53:53:99:1842,159,0:95	1|1:0,32:32:96:1137,96,0:95
1	109737132	.	T	C	15888.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2359244;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2359244" target="_blank">rs2359244</a>;ExAC.Info.AC=100797;ExAC.Info.AN=126704;ExAC.Info.AF=0.796;ExAC.Info.AC_Het=18885;ExAC.Info.AC_Hom=40950;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr679Thr/c.2037T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369939;SAVANT_GENE=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;SAVANT_INFO=+/89.2kb/22/3.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2037T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1324+c.2037T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109737132">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2209,198,0:127	1|1:0,79:79:99:2673,237,0:127	1|1:0,43:43:99:1461,129,0:127
1	109737172	.	C	T	15683.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2359243;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2359243" target="_blank">rs2359243</a>;ExAC.Info.AC=98623;ExAC.Info.AN=126704;ExAC.Info.AF=0.778;ExAC.Info.AC_Het=19365;ExAC.Info.AC_Hom=39616;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2077C>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2077C>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2077C>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2077C>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2077C>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2077C>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2077C>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" 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1	109740548	.	G	T	3539.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2296696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296696" target="_blank">rs2296696</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2303-53G>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2303G>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" 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target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2303G>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2303G>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2303G>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2303G>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2303G>T;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369939;SAVANT_GENE=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;SAVANT_INFO=+/89.2kb/22/3.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2303-53G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1324+c.2303-53G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109740548">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,27:51:99:674,0,673:127	0|0:65,0:65:99:0,195,2288:127	1|0:23,24:47:99:681,0,584:127
1	109745618	.	T	C	17486.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1052878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052878" target="_blank">rs1052878</a>;ExAC.Info.AC=114814;ExAC.Info.AN=126704;ExAC.Info.AF=0.906;ExAC.Info.AC_Het=10380;ExAC.Info.AC_Hom=52196;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3026T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3026T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3026T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTa/cCa;snpeff.Amino_Acid_Change=p.Leu1009Pro/c.3026T>C;snpeff.Amino_Acid_length=1013;snpeff.Gene_Name=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369939;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369939;SAVANT_GENE=KIAA1324;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1324" target="_blank">KIAA1324</a>;SAVANT_INFO=+/89.2kb/22/3.4kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.3026T>C_p.Leu1009Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1324+c.3026T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109745618">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1868,150,0:127	1|1:0,66:66:99:2549,198,0:127	1|1:0,69:69:99:2649,207,0:127
1	109771063	.	T	C	23005.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=473;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs683182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=683182" target="_blank">rs683182</a>;ExAC.Info.AC=96002;ExAC.Info.AN=126704;ExAC.Info.AF=0.758;ExAC.Info.AC_Het=21691;ExAC.Info.AC_Hom=37144;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.288+9T>C;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=SARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SARS" target="_blank">SARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369923;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234677;SAVANT_GENE=SARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SARS" target="_blank">SARS</a>;SAVANT_INFO=+/24.2kb/11/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.288+9T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SARS+c.288+9T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109771063">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,63:134:99:1864,0,1940:127	1|1:0,169:169:99:6070,508,0:127	0|1:81,89:170:99:2671,0,2213:127
1	109778577	.	T	C	6644.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs658092;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=658092" target="_blank">rs658092</a>;ExAC.Info.AC=96013;ExAC.Info.AN=126572;ExAC.Info.AF=0.759;ExAC.Info.AC_Het=20996;ExAC.Info.AC_Hom=36357;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.970-22T>C;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=SARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SARS" target="_blank">SARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369923;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234677;SAVANT_GENE=SARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SARS" target="_blank">SARS</a>;SAVANT_INFO=+/24.2kb/11/1.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.970-22T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SARS+c.970-22T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109778577">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,22:48:99:743,0,757:127	1|1:0,47:47:99:1680,141,0:127	0|1:21,17:38:99:478,0,608:127
1	109779530	.	C	T	5944.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72701097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72701097" target="_blank">rs72701097</a>;ExAC.Info.AC=1777;ExAC.Info.AN=118914;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1090;ExAC.Info.AC_Hom=28;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1323+38C>T;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=SARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SARS" target="_blank">SARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369923;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234677;SAVANT_GENE=SARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SARS" target="_blank">SARS</a>;SAVANT_INFO=+/24.2kb/11/1.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1258-336C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SARS+c.1258-336C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109779530">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,60:97:99:1510,0,1015:127	0|0:118,0:118:99:0,355,4289:127	1|0:58,50:108:99:1309,0,1860:127
1	109779556	.	T	A	19904.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs631927;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=631927" target="_blank">rs631927</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1323+64T>A;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=SARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SARS" target="_blank">SARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369923;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234677;SAVANT_GENE=SARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SARS" target="_blank">SARS</a>;SAVANT_INFO=+/24.2kb/11/1.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1258-310T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SARS+c.1258-310T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109779556">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2987,250,0:127	1|1:0,96:96:99:3463,288,0:127	1|1:0,74:74:99:2805,223,0:127
1	109792735	.	A	ACGC	8042.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=113;MQ=70.22;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs144034706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144034706" target="_blank">rs144034706</a>;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.35_36insCGC;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=acg/aCGCcg;snpeff.Amino_Acid_Change=p.Thr12_Pro13insThrPro/c.35_36insCGC;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.47_49dupCGC_p.Pro16dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.47_49dupCGC+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109792735">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,24:46:99:941,0,876:112	1|1:0,34:34:99:1597,113,0:112	0|1:6,27:33:99:1014,0,134:112
1	109794252	.	T	C	53398.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=712;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs454107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=454107" target="_blank">rs454107</a>;ExAC.Info.AC=119990;ExAC.Info.AN=126702;ExAC.Info.AF=0.947;ExAC.Info.AC_Het=5922;ExAC.Info.AC_Hom=56945;snpeff.Effect=sequence_feature[domain:Cadherin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser517Ser/c.1551T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1551T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.1551T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109794252">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,208:208:99:6945,624,0:127	1|1:0,281:281:99:9260,844,0:127	1|1:0,223:223:99:7469,669,0:127
1	109795026	.	T	C	25552.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs413380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=413380" target="_blank">rs413380</a>;ExAC.Info.AC=119858;ExAC.Info.AN=126582;ExAC.Info.AF=0.947;ExAC.Info.AC_Het=5875;ExAC.Info.AC_Hom=56444;snpeff.Effect=sequence_feature[domain:Cadherin_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr775Tyr/c.2325T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.2325T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.2325T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109795026">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:3056,259,0:127	1|1:0,114:114:99:4131,343,0:127	1|1:0,93:93:99:3258,279,0:127
1	109795608	.	T	C	53020.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=646;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs437444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=437444" target="_blank">rs437444</a>;ExAC.Info.AC=120409;ExAC.Info.AN=126652;ExAC.Info.AF=0.951;ExAC.Info.AC_Het=5612;ExAC.Info.AC_Hom=56974;snpeff.Effect=sequence_feature[domain:Cadherin_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe969Phe/c.2907T>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.2907T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.2907T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109795608">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,200:200:99:6967,601,0:127	1|1:0,234:234:99:8411,706,0:127	1|1:0,212:212:99:7758,636,0:127
1	109796053	.	C	T	1541.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2359414;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2359414" target="_blank">rs2359414</a>;ExAC.Info.AC=31199;ExAC.Info.AN=124084;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=17343;ExAC.Info.AC_Hom=3225;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3310+42C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.3310+42C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.3310+42C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109796053">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,13:24:99:380,0,268:69	0|0:23,0:23:69:0,69,816:69	1|0:15,13:28:99:313,0,431:69
1	109804883	.	C	G	6591.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs66795935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66795935" target="_blank">rs66795935</a>;ExAC.Info.AC=8814;ExAC.Info.AN=126672;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=7944;ExAC.Info.AC_Hom=355;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4387-26C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" 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target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4387C>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.4387-26C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.4387-26C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109804883">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,38:75:99:1068,0,1159:127	1|0:65,52:117:99:1455,0,1861:127	0|0:92,0:92:99:0,277,3358:127
1	109806834	.	C	T	5702.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6698843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6698843" target="_blank">rs6698843</a>;ExAC.Info.AC=54233;ExAC.Info.AN=126604;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=29196;ExAC.Info.AC_Hom=12304;snpeff.Effect=sequence_feature[domain:Laminin_G-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro1712Pro/c.5136C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.5136C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.5136C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109806834">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,267,2760:127	0|1:54,43:97:99:1265,0,1601:127	0|1:44,50:94:99:1606,0,1198:127
1	109807099	.	G	A	3260.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6689614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6689614" target="_blank">rs6689614</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=54241;ExAC.Info.AN=126698;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=29506;ExAC.Info.AC_Hom=12334;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro1771Pro/c.5313G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.5313G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.5313G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109807099">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,204,2375:127	0|1:40,29:69:99:807,0,1198:127	0|1:32,29:61:99:843,0,947:127
1	109807283	.	A	T	3470.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6657811;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6657811" target="_blank">rs6657811</a>;ExAC.Info.AC=12939;ExAC.Info.AN=126676;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=11221;ExAC.Info.AC_Hom=790;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5464+33A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5465A>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.5464+33A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.5464+33A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109807283">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,15:33:99:446,0,537:127	1|0:36,29:65:99:870,0,1111:127	0|0:56,0:56:99:0,168,1987:127
1	109810183	.	C	T	3748.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=517;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61761209;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61761209" target="_blank">rs61761209</a>;ExAC.Info.AC=6234;ExAC.Info.AN=126702;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5846;ExAC.Info.AC_Hom=192;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg2009Arg/c.6027C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.6027C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.6027C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109810183">View</a>	GT:AD:DP:GQ:PL:TP	0|0:173,0:173:99:0,526,6954:127	0|0:211,0:211:99:0,647,8734:127	0|1:67,66:133:99:1893,0,2219:127
1	109810200	.	G	A	20675.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=620;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72703203;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72703203" target="_blank">rs72703203</a>;ExAC.Info.AC=2812;ExAC.Info.AN=126704;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2726;ExAC.Info.AC_Hom=40;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg2015Lys/c.6044G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.6044G>A_p.Arg2015Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.6044G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109810200">View</a>	GT:AD:DP:GQ:PL:TP	0|1:94,104:198:99:4113,0,4211:127	1|0:126,118:244:99:4602,0,5510:127	0|0:178,0:178:99:0,542,8335:127
1	109810201	.	G	A	20681.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=620;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72703204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72703204" target="_blank">rs72703204</a>;ExAC.Info.AC=2811;ExAC.Info.AN=126704;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2727;ExAC.Info.AC_Hom=40;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg2015Arg/c.6045G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.6045G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.6045G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109810201">View</a>	GT:AD:DP:GQ:PL:TP	0|1:94,105:199:99:4113,0,4211:127	1|0:126,118:244:99:4605,0,5489:127	0|0:177,0:177:99:0,542,8335:127
1	109810544	.	C	A	2858.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2281894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281894" target="_blank">rs2281894</a>;ExAC.Info.AC=27047;ExAC.Info.AN=126550;ExAC.Info.AF=0.214;ExAC.Info.AC_Het=20026;ExAC.Info.AC_Hom=3234;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgA;snpeff.Amino_Acid_Change=p.Arg2060Arg/c.6180C>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.6180C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.6180C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109810544">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,23:45:99:588,0,685:127	0|0:81,0:81:99:0,243,2884:127	1|0:23,17:40:99:412,0,694:127
1	109813236	.	TTCCCAGTCTTGGGG	T	7446.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs111491315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111491315" target="_blank">rs111491315</a>;ExAC.Info.AC=53248;ExAC.Info.AN=126552;ExAC.Info.AF=0.421;ExAC.Info.AC_Het=30654;ExAC.Info.AC_Hom=10407;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7483+15_7483+28delTCCCAGTCTTGGGG;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7484_7497delTCCCAGTCTTGGGG;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7484_7497delTCCCAGTCTTGGGG;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.7483+20_7483+33del14;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.7483+20_7483+33del14+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109813236">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,318,4737:127	0|1:56,58:114:99:2238,0,2171:127	0|1:57,40:97:99:1510,0,2271:127
1	109813719	.	C	T	7496.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17035665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17035665" target="_blank">rs17035665</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7596+58C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7597C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7597C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.7596+58C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.7596+58C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109813719">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,36:56:99:1148,0,612:127	1|0:54,52:106:99:1628,0,1666:127	0|0:62,0:62:99:0,187,2476:127
1	109814880	.	C	T	10244.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=496;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4970834;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4970834" target="_blank">rs4970834</a>;ExAC.Info.AC=21335;ExAC.Info.AN=126602;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=16447;ExAC.Info.AC_Hom=2074;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7927-20C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7927C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7927C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7927C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7927C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7927C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7927C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7927C>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.7927-20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.7927-20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109814880">View</a>	GT:AD:DP:GQ:PL:TP	0|1:82,78:160:99:1934,0,2340:127	1|0:100,91:191:99:2276,0,2879:127	0|0:145,0:145:99:0,436,5102:127
1	109815252	.	A	G	2688.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs611917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=611917" target="_blank">rs611917</a>;ExAC.Info.AC=35743;ExAC.Info.AN=126560;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=24336;ExAC.Info.AC_Hom=5255;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8055-10A>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8055A>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8055A>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8055A>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8055A>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8055A>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8055A>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8055A>G;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.8055-10A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.8055-10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109815252">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,16:27:99:490,0,324:127	1|0:27,22:49:99:652,0,905:127	0|0:43,0:43:99:0,129,1614:127
1	109816176	.	A	C	18217.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs441853;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=441853" target="_blank">rs441853</a>;ExAC.Info.AC=118300;ExAC.Info.AN=119496;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=365;ExAC.Info.AC_Hom=29108;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8628A>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8628A>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8628A>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8628A>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8628A>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8628A>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8628A>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly2876Gly/c.8628A>C;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=Ex33;SAVANT_HGVS=c.8628A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.8628A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109816176">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2275,192,0:127	1|1:0,93:93:99:3296,279,0:127	1|1:0,60:60:99:2128,180,0:127
1	109818158	.	C	CT	20179.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=443;MQ=70.11;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3832016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3832016" target="_blank">rs3832016</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1488;snpeff.Amino_Acid_Change=c.*1488_*1489insT;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1487_*1488insT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.*1487_*1488insT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109818158">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,71:152:99:2365,0,2779:127	0|1:86,81:167:99:2688,0,2940:127	1|1:0,124:124:99:4956,373,0:127
1	109818263	.	G	A	46555.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=678;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs658437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=658437" target="_blank">rs658437</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1592;snpeff.Amino_Acid_Change=c.*1592G>A;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1592G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.*1592G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109818263">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,213:213:99:7022,640,0:127	1|1:0,257:257:99:8809,772,0:127	1|1:0,208:208:99:7199,625,0:127
1	109818306	.	G	T	26464.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=670;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs629301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=629301" target="_blank">rs629301</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1635;snpeff.Amino_Acid_Change=c.*1635G>T;snpeff.Amino_Acid_length=2923;snpeff.Gene_Name=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271332;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271332;SAVANT_GENE=CELSR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELSR2" target="_blank">CELSR2</a>;SAVANT_INFO=+/25.7kb/34/10.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1635G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELSR2+c.*1635G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109818306">View</a>	GT:AD:DP:GQ:PL:TP	1|0:101,102:203:99:2694,0,2986:127	0|1:148,106:254:99:2996,0,4528:127	1|1:0,213:213:99:7275,640,0:127
1	109822143	.	G	A	4588.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1277930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1277930" target="_blank">rs1277930</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1277930" target="_blank">rs1277930</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109822143">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,21:47:99:585,0,764:110	0|1:34,17:51:99:463,0,1135:110	1|1:0,37:37:99:1279,111,0:110
1	109822166	.	G	A	7828.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs599839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=599839" target="_blank">rs599839</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Myocardial_infarction|_association_with;hgmd_2014.2.OMIM_ID=602458;hgmd_2014.2.PubMed=21463265;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21463265" target="_blank">21463265</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21463265" target="_blank">21463265</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109822166">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,26:59:99:757,0,899:127	0|1:40,35:75:99:1045,0,1169:127	1|1:0,51:51:99:2007,153,0:127
1	109836835	.	A	G	10338.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=487;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3738777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738777" target="_blank">rs3738777</a>;ExAC.Info.AC=40792;ExAC.Info.AN=126698;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=26426;ExAC.Info.AC_Hom=7165;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=26;snpeff.Amino_Acid_Change=c.*26T>C;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357155;SAVANT_GENE=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;SAVANT_INFO=-/14.7kb/9/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*26T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPHL+c.*26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109836835">View</a>	GT:AD:DP:GQ:PL:TP	1|0:89,64:153:99:1798,0,2593:127	0|0:193,0:193:99:0,586,7413:127	1|0:68,73:141:99:2201,0,2592:127
1	109836842	.	C	G	8738.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=497;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs646335;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=646335" target="_blank">rs646335</a>;ExAC.Info.AC=74378;ExAC.Info.AN=126700;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=29977;ExAC.Info.AC_Hom=22143;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=19;snpeff.Amino_Acid_Change=c.*19G>C;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357155;SAVANT_GENE=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;SAVANT_INFO=-/14.7kb/9/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*19G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPHL+c.*19G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109836842">View</a>	GT:AD:DP:GQ:PL:TP	0|0:156,0:156:99:0,469,6088:127	0|1:107,91:198:99:2487,0,3071:127	0|1:77,66:143:99:1902,0,2968:127
1	109837853	.	G	A	3578.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72703216;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72703216" target="_blank">rs72703216</a>;ExAC.Info.AC=1191;ExAC.Info.AN=126704;ExAC.Info.AF=9.400e-03;ExAC.Info.AC_Het=1163;ExAC.Info.AC_Hom=14;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.934G>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.934G>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.934G>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.934G>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Tac;snpeff.Amino_Acid_Change=p.His312Tyr/c.934C>T;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357155;SAVANT_GENE=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;SAVANT_INFO=-/14.7kb/9/1.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.934C>T_p.His312Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPHL+c.934C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109837853">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,15:37:99:396,0,597:127	0|0:53,0:53:99:0,159,1804:127	1|0:20,28:48:99:797,0,525:127
1	109838918	.	C	T	6527.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs629001;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=629001" target="_blank">rs629001</a>;ExAC.Info.AC=116932;ExAC.Info.AN=126704;ExAC.Info.AF=0.923;ExAC.Info.AC_Het=8299;ExAC.Info.AC_Hom=54316;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp269Asn/c.805G>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357155;SAVANT_GENE=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;SAVANT_INFO=-/14.7kb/9/1.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.805G>A_p.Asp269Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPHL+c.805G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109838918">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,25:42:99:708,0,516:114	0|1:34,25:59:99:657,0,1126:114	1|1:0,38:38:99:1257,114,0:114
1	109839433	.	A	G	27279.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1278285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1278285" target="_blank">rs1278285</a>;ExAC.Info.AC=123971;ExAC.Info.AN=126704;ExAC.Info.AF=0.978;ExAC.Info.AC_Het=2157;ExAC.Info.AC_Hom=60905;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.702A>G;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.702A>G;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr234Thr/c.702T>C;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357155;SAVANT_GENE=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;SAVANT_INFO=-/14.7kb/9/1.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.702T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPHL+c.702T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109839433">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:3131,276,0:127	1|1:0,112:112:99:3957,337,0:127	1|1:0,106:106:99:3757,318,0:127
1	109839738	.	C	A	6064.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3850615;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3850615" target="_blank">rs3850615</a>;ExAC.Info.AC=11368;ExAC.Info.AN=126704;ExAC.Info.AF=0.090;ExAC.Info.AC_Het=9857;ExAC.Info.AC_Hom=769;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.504C>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.504C>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccT;snpeff.Amino_Acid_Change=p.Pro168Pro/c.504G>T;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357155;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357155;SAVANT_GENE=MYBPHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL" target="_blank">MYBPHL</a>;SAVANT_INFO=-/14.7kb/9/1.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.504G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPHL+c.504G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109839738">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,51:81:99:1509,0,743:127	0|0:99,0:99:99:0,297,3389:127	1|0:34,42:76:99:1099,0,1016:127
1	109856842	.	TG	T	918.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=211;MQ=70.14;MQ0=0;culprit=MQRankSum;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;OMIM_phenotypes.name=[Low_density_lipoprotein_cholesterol_level_QTL6]|_613589_(3);dbSNP139.ID=rs372331171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=372331171" target="_blank">rs372331171</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2481+40delC;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482delG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482delG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482delG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Golgi_to_endosome_transport_and_interactions_with_GGA1_and_GGA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482delG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Golgi_to_endosome_transport_and_interactions_with_GGA1_and_GGA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482delG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Golgi_to_endosome_transport_and_interactions_with_GGA1_and_GGA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482delG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000256637;SAVANT_GENE=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;SAVANT_INFO=-/88.4kb/20/7.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2481+40delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORT1+c.2481+40delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109856842">View</a>	GT:AD:DP:GQ:PL	./0:39,3:62:99:239,340,1580	0/1:72,15:87:99:121,0,1817	./0:46,1:62:99:177,332,1598
1	109856842	.	TG	TGG	918.29	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=211;MQ=70.14;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;OMIM_phenotypes.name=[Low_density_lipoprotein_cholesterol_level_QTL6]|_613589_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2481+40_2481+39insC;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482_2483insG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482_2483insG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482_2483insG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Golgi_to_endosome_transport_and_interactions_with_GGA1_and_GGA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482_2483insG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Golgi_to_endosome_transport_and_interactions_with_GGA1_and_GGA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482_2483insG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Golgi_to_endosome_transport_and_interactions_with_GGA1_and_GGA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2482_2483insG;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000256637;SAVANT_GENE=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;SAVANT_INFO=-/88.4kb/20/7.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2481+40dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORT1+c.2481+40dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109856842">View</a>	GT:AD:DP:GQ:PL	0/1:39,20:62:99:239,0,846	./0:72,0:87:99:121,379,2358	0/1:46,15:62:99:177,0,1147
1	109878824	.	A	C	3126.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=[Low_density_lipoprotein_cholesterol_level_QTL6]|_613589_(3);dbSNP139.ID=rs67195750;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67195750" target="_blank">rs67195750</a>;ExAC.Info.AC=117;ExAC.Info.AN=126686;ExAC.Info.AF=9.235e-04;ExAC.Info.AC_Het=117;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1371+38T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256637;SAVANT_GENE=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;SAVANT_INFO=-/88.4kb/20/7.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1371+38T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORT1+c.1371+38T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109878824">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,291,3196:127	0|1:42,48:90:99:1582,0,1132:127	0|0:109,0:109:99:0,328,3766:127
1	109884775	.	T	G	43382.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=534;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=[Low_density_lipoprotein_cholesterol_level_QTL6]|_613589_(3);dbSNP139.ID=rs2228604;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228604" target="_blank">rs2228604</a>;ExAC.Info.AC=92280;ExAC.Info.AN=126690;ExAC.Info.AF=0.728;ExAC.Info.AC_Het=23193;ExAC.Info.AC_Hom=34497;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" 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target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969T>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acC;snpeff.Amino_Acid_Change=p.Thr323Thr/c.969A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256637;SAVANT_GENE=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;SAVANT_INFO=-/88.4kb/20/7.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.969A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORT1+c.969A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109884775">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,148:149:99:5245,411,0:127	1|1:0,184:184:99:6716,553,0:127	1|1:0,201:201:99:7068,604,0:127
1	109897103	.	A	G	50866.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=629;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=[Low_density_lipoprotein_cholesterol_level_QTL6]|_613589_(3);dbSNP139.ID=rs11142;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11142" target="_blank">rs11142</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=95377;ExAC.Info.AN=126700;ExAC.Info.AF=0.753;ExAC.Info.AC_Het=22794;ExAC.Info.AC_Hom=36280;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594A>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:BNR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594A>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594A>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594A>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594A>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594A>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594A>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594A>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594A>G;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" 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target="_blank">SORT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256637;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256637;SAVANT_GENE=SORT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORT1" target="_blank">SORT1</a>;SAVANT_INFO=-/88.4kb/20/7.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.594T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORT1+c.594T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:109897103">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,180:180:99:6491,541,0:127	1|1:0,233:233:99:8493,700,0:127	1|1:0,216:216:99:7871,649,0:127
1	110009802	.	G	A	2275.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=73;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2272272;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272272" target="_blank">rs2272272</a>;ExAC.Info.AC=1004;ExAC.Info.AN=55994;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=385;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.129+47G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=SYPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYPL2" target="_blank">SYPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369872;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=SYPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYPL2" target="_blank">SYPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369872;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=SYPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYPL2" target="_blank">SYPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369872;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MARVEL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=SYPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYPL2" target="_blank">SYPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369872;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MARVEL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=SYPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYPL2" target="_blank">SYPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369872;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MARVEL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=SYPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYPL2" target="_blank">SYPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369872;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MARVEL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=SYPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYPL2" target="_blank">SYPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369872;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MARVEL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=SYPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYPL2" target="_blank">SYPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369872;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369872;SAVANT_GENE=SYPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYPL2" target="_blank">SYPL2</a>;SAVANT_INFO=+/15.5kb/6/3.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.129+47G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYPL2+c.129+47G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110009802">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,17:27:99:434,0,292:51	1|0:12,17:29:99:474,0,343:51	0|0:17,0:17:51:0,51,523:51
1	110091282	.	C	T	1798.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=68;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Auriculocondylar_syndrome_1|_602483_(3);dbSNP139.ID=rs1279195;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1279195" target="_blank">rs1279195</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=61;snpeff.Amino_Acid_Change=c.-61C>T;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=GNAI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNAI3" target="_blank">GNAI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369851;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=GNAI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNAI3" target="_blank">GNAI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369851;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369851;SAVANT_GENE=GNAI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNAI3" target="_blank">GNAI3</a>;SAVANT_INFO=+/45.7kb/9/3.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-61C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNAI3+c.-61C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110091282">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,8:22:99:255,0,464:60	1|0:12,14:26:99:416,0,389:60	0|0:20,0:20:60:0,60,773:60
1	110148974	.	C	T	24392.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=1304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Achromatopsia-4|_613856_(3);dbSNP139.ID=rs1799875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799875" target="_blank">rs1799875</a>;ExAC.Info.AC=57044;ExAC.Info.AN=126704;ExAC.Info.AF=0.450;ExAC.Info.AC_Het=28960;ExAC.Info.AC_Hom=14039;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr182Thr/c.546G>A;snpeff.Amino_Acid_length=354;snpeff.Gene_Name=GNAT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNAT2" target="_blank">GNAT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351050;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000351050;SAVANT_GENE=GNAT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNAT2" target="_blank">GNAT2</a>;SAVANT_INFO=-/9.8kb/8/1.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.546G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNAT2+c.546G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110148974">View</a>	GT:AD:DP:GQ:PL:TP	0|0:455,0:455:99:0,1366,15075:127	0|1:210,215:425:99:6460,0,5816:127	0|1:221,203:424:99:5720,0,6114:127
1	110168888	.	C	G	26537.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs493972;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=493972" target="_blank">rs493972</a>;ExAC.Info.AC=91679;ExAC.Info.AN=126686;ExAC.Info.AF=0.724;ExAC.Info.AC_Het=23786;ExAC.Info.AC_Hom=33529;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.584+38C>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=AMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD2" target="_blank">AMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256578;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256578;SAVANT_GENE=AMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD2" target="_blank">AMPD2</a>;SAVANT_INFO=+/11.4kb/18/3.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.584+38C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMPD2+c.584+38C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110168888">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3368,291,0:127	1|1:0,122:122:99:4290,366,0:127	1|1:0,90:90:99:3114,270,0:127
1	110169957	.	A	G	25316.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs524998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=524998" target="_blank">rs524998</a>;ExAC.Info.AC=94455;ExAC.Info.AN=126682;ExAC.Info.AF=0.746;ExAC.Info.AC_Het=22445;ExAC.Info.AC_Hom=35745;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1022+19A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=AMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD2" target="_blank">AMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256578;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256578;SAVANT_GENE=AMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD2" target="_blank">AMPD2</a>;SAVANT_INFO=+/11.4kb/18/3.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1022+19A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMPD2+c.1022+19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110169957">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:3229,274,0:127	1|1:0,106:106:99:3779,319,0:127	1|1:0,93:93:99:3301,280,0:127
1	110170896	.	T	C	17570.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs863978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=863978" target="_blank">rs863978</a>;ExAC.Info.AC=93091;ExAC.Info.AN=126698;ExAC.Info.AF=0.735;ExAC.Info.AC_Het=23310;ExAC.Info.AC_Hom=34763;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His478His/c.1434T>C;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=AMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD2" target="_blank">AMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256578;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256578;SAVANT_GENE=AMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD2" target="_blank">AMPD2</a>;SAVANT_INFO=+/11.4kb/18/3.9kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1434T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMPD2+c.1434T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110170896">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2233,186,0:127	1|1:0,83:83:99:2957,250,0:127	1|1:0,63:63:99:2173,189,0:127
1	110171705	.	A	C	12834.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs523786;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=523786" target="_blank">rs523786</a>;ExAC.Info.AC=93603;ExAC.Info.AN=126646;ExAC.Info.AF=0.739;ExAC.Info.AC_Het=22691;ExAC.Info.AC_Hom=34697;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.270+20T>G;snpeff.Gene_Name=RP5-1160K1.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1160K16" target="_blank">RP5-1160K16</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000369843;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1734-26A>C;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=AMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1160K16" target="_blank">RP5-1160K16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256578;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256578;SAVANT_GENE=AMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD2" target="_blank">AMPD2</a>;SAVANT_INFO=+/11.4kb/18/3.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1734-26A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMPD2+c.1734-26A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110171705">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1446,117,0:127	1|1:0,61:61:99:2236,183,0:127	1|1:0,44:44:99:1605,132,0:127
1	110173775	.	G	T	7504.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs568686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=568686" target="_blank">rs568686</a>;ExAC.Info.AC=14527;ExAC.Info.AN=122540;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=6998;ExAC.Info.AC_Hom=615;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Amino_Acid_Change=c.*1G>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=AMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD2" target="_blank">AMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256578;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256578;SAVANT_GENE=AMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD2" target="_blank">AMPD2</a>;SAVANT_INFO=+/11.4kb/18/3.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMPD2+c.*1G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110173775">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,36:66:99:947,0,981:127	0/1:44,40:84:99:1076,0,1366:127	0/1:41,40:81:99:1118,0,1269:127
1	110201580	.	C	T	17747.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs650985;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=650985" target="_blank">rs650985</a>;ExAC.Info.AC=121465;ExAC.Info.AN=126702;ExAC.Info.AF=0.959;ExAC.Info.AC_Het=4957;ExAC.Info.AC_Hom=58251;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.457-42C>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.457C>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.457C>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.457C>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.457C>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369836;SAVANT_GENE=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;SAVANT_INFO=+/5.6kb/8/1.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.457-42C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM4+c.457-42C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110201580">View</a>	GT:AD:DP:GQ:PL:TP	1|0:64,64:128:99:1812,0,1783:127	0|1:70,70:140:99:1941,0,2008:127	1|1:0,122:122:99:4125,367,0:127
1	110201809	.	G	T	20652.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=375;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs562996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=562996" target="_blank">rs562996</a>;ExAC.Info.AC=111490;ExAC.Info.AN=126700;ExAC.Info.AF=0.880;ExAC.Info.AC_Het=13146;ExAC.Info.AC_Hom=48991;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.567+77G>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>T;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369836;SAVANT_GENE=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;SAVANT_INFO=+/5.6kb/8/1.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.567+77G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM4+c.567+77G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110201809">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,53:125:99:2093,0,2262:127	0|1:81,49:130:99:1836,0,2606:127	1|1:0,120:120:99:5339,361,0:127
1	110201812	.	A	G	16163.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=388;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs563003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=563003" target="_blank">rs563003</a>;ExAC.Info.AC=111486;ExAC.Info.AN=126700;ExAC.Info.AF=0.880;ExAC.Info.AC_Het=13135;ExAC.Info.AC_Hom=48976;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.567+80A>G;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568A>G;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568A>G;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568A>G;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568A>G;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568A>G;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568A>G;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369836;SAVANT_GENE=GSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM4" target="_blank">GSTM4</a>;SAVANT_INFO=+/5.6kb/8/1.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.567+80A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM4+c.567+80A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110201812">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,55:131:99:1687,0,3480:127	0|1:85,52:137:99:1629,0,3884:127	1|1:3,117:120:99:3952,274,0:127
1	110210780	.	C	G	13079.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs530021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=530021" target="_blank">rs530021</a>;ExAC.Info.AC=115042;ExAC.Info.AN=126654;ExAC.Info.AF=0.908;ExAC.Info.AC_Het=10202;ExAC.Info.AC_Hom=52015;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.36+7C>G;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=GSTM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM2" target="_blank">GSTM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369831;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241337;SAVANT_GENE=GSTM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM2" target="_blank">GSTM2</a>;SAVANT_INFO=+/7.2kb/8/1.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.36+7C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM2+c.36+7C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110210780">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2187,183,0:114	1|1:0,62:62:99:2214,186,0:114	1|1:0,38:38:99:1373,114,0:114
1	110210818	.	C	T	2903.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2073483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2073483" target="_blank">rs2073483</a>;ExAC.Info.AC=51993;ExAC.Info.AN=124442;ExAC.Info.AF=0.418;ExAC.Info.AC_Het=25726;ExAC.Info.AC_Hom=10717;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.36+45C>T;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=GSTM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM2" target="_blank">GSTM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369831;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241337;SAVANT_GENE=GSTM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM2" target="_blank">GSTM2</a>;SAVANT_INFO=+/7.2kb/8/1.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.36+45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM2+c.36+45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110210818">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,14:29:99:384,0,451:53	1|1:0,29:29:87:1070,87,0:53	0|0:18,0:18:54:0,54,655:53
1	110231777	.	G	A	19845.93	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=242;MQ=69.87;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=./.;dbSNP139.ID=rs4147565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4147565" target="_blank">rs4147565</a>;ExAC.Info.AC=18924;ExAC.Info.AN=74356;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=2219;ExAC.Info.AC_Hom=7799;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.316+26G>A;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=GSTM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM1" target="_blank">GSTM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369823;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.567+17572G>A;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=GSTM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM1" target="_blank">GSTM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369831;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309851;SAVANT_GENE=GSTM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM1" target="_blank">GSTM1</a>;SAVANT_INFO=+/5.9kb/8/1.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.259+26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM1+c.259+26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110231777">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:3736,345,0:127	./.	1|1:0,127:127:99:4320,382,0:127
1	110252010	.	T	C	14818.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=249;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1292098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1292098" target="_blank">rs1292098</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=812;snpeff.Amino_Acid_Change=c.*812T>C;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=GSTM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM2" target="_blank">GSTM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369831;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM2" target="_blank">GSTM2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110252010">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,71:72:99:2518,206,0:127	1|1:0,97:97:99:3133,291,0:127	1|0:49,31:80:99:849,0,1352:127
1	110252091	.	G	A	5895.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=174;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs35677255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35677255" target="_blank">rs35677255</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=893;snpeff.Amino_Acid_Change=c.*893G>A;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=GSTM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM2" target="_blank">GSTM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369831;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM2" target="_blank">GSTM2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110252091">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,35:59:99:972,0,618:127	1|1:0,55:55:99:1974,165,0:127	0|0:60,0:60:99:0,179,2106:127
1	110255174	.	T	G	3700.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs929166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=929166" target="_blank">rs929166</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.37-66T>G;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256593;SAVANT_GENE=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;SAVANT_INFO=+/6.0kb/8/1.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.37-66T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM5+c.37-66T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110255174">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,11:22:99:351,0,338:74	1|1:0,31:31:93:1171,93,0:74	0|0:25,0:25:75:0,75,891:74
1	110279701	.	C	T	21579.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=537;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7483" target="_blank">rs7483</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Reduced_IgG_titer_levels_in_serum_against_Helicobacter_pylori|_association_with;hgmd_2014.2.OMIM_ID=138390;hgmd_2014.2.PubMed=19696791;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19696791" target="_blank">19696791</a>;ExAC.Info.AC=43277;ExAC.Info.AN=126702;ExAC.Info.AF=0.342;ExAC.Info.AC_Het=25931;ExAC.Info.AC_Hom=8655;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.565C>T;snpeff.Gene_Name=RP4-735C1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-735C14" target="_blank">RP4-735C14</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431955;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-735C14" target="_blank">RP4-735C14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val224Ile/c.670G>A;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=GSTM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-735C14" target="_blank">RP4-735C14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540225;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540225;SAVANT_GENE=GSTM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM3" target="_blank">GSTM3</a>;SAVANT_INFO=-/7.8kb/9/4.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.670G>A_p.Val224Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM3+c.670G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110279701">View</a>	GT:AD:DP:GQ:PL:TP	0|1:86,80:166:99:2212,0,2762:127	1|1:0,226:226:99:8141,680,0:127	0|0:145,0:145:99:0,439,5813:127
1	110279821	.	C	A	28256.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=608;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1537234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1537234" target="_blank">rs1537234</a>;ExAC.Info.AC=58821;ExAC.Info.AN=126700;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=28658;ExAC.Info.AC_Hom=14952;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.580-30G>T;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=GSTM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540225;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.627+58C>A;snpeff.Gene_Name=RP4-735C1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431955;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540225;SAVANT_GENE=GSTM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM3" target="_blank">GSTM3</a>;SAVANT_INFO=-/7.8kb/9/4.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.580-30G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM3+c.580-30G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110279821">View</a>	GT:AD:DP:GQ:PL:TP	0|1:100,82:182:99:2130,0,2770:127	1|1:0,243:243:99:8296,730,0:127	0|1:89,94:183:99:2553,0,2403:127
1	110281941	.	G	A	15531.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10735234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10735234" target="_blank">rs10735234</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.189+110C>T;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=GSTM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540225;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.627+2178G>A;snpeff.Gene_Name=RP4-735C1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431955;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540225;SAVANT_GENE=GSTM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM3" target="_blank">GSTM3</a>;SAVANT_INFO=-/7.8kb/9/4.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.189+110C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM3+c.189+110C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110281941">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,45:89:99:1434,0,1333:127	1|1:0,115:115:99:4438,346,0:127	0|1:46,40:86:99:1349,0,1415:127
1	110282972	.	G	T	28219.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=626;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1332018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1332018" target="_blank">rs1332018</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_expression;hgmd_2014.2.OMIM_ID=138390;hgmd_2014.2.PubMed=15665284;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15665284" target="_blank">15665284</a>;ExAC.Info.AC=76693;ExAC.Info.AN=125428;ExAC.Info.AF=0.611;ExAC.Info.AC_Het=19981;ExAC.Info.AC_Hom=18143;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.627+3209G>T;snpeff.Gene_Name=RP4-735C1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431955;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=63;snpeff.Amino_Acid_Change=c.-63C>A;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=GSTM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540225;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540225;SAVANT_GENE=GSTM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM3" target="_blank">GSTM3</a>;SAVANT_INFO=-/7.8kb/9/4.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-63C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTM3+c.-63C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110282972">View</a>	GT:AD:DP:GQ:PL:TP	0|1:95,89:184:99:2308,0,2899:127	1|1:0,232:232:99:7725,697,0:127	0|1:113,97:210:99:2706,0,3374:127
1	110294577	.	A	G	776.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2274536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274536" target="_blank">rs2274536</a>;ExAC.Info.AC=37914;ExAC.Info.AN=126126;ExAC.Info.AF=0.301;ExAC.Info.AC_Het=23109;ExAC.Info.AC_Hom=6364;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1437+40T>C;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369805;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.627+14814A>G;snpeff.Gene_Name=RP4-735C1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431955;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1438A>G;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369805;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1438A>G;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369805;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1438A>G;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369805;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1438A>G;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369805;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369805;SAVANT_GENE=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L3" target="_blank">EPS8L3</a>;SAVANT_INFO=-/13.9kb/19/2.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1437+40T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L3+c.1437+40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110294577">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1305:109	0|0:38,0:38:99:0,114,1228:109	0|1:15,14:29:99:407,0,465:109
1	110295643	.	G	T	844.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1887546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1887546" target="_blank">rs1887546</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1203+96C>A;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369805;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.627+15880G>T;snpeff.Gene_Name=RP4-735C1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431955;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369805;SAVANT_GENE=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L3" target="_blank">EPS8L3</a>;SAVANT_INFO=-/13.9kb/19/2.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1203+96C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L3+c.1203+96C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110295643">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,977:74	0|0:34,0:34:99:0,101,1200:74	0|1:11,15:26:99:441,0,333:74
1	110295772	.	T	C	12020.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1887547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1887547" target="_blank">rs1887547</a>;ExAC.Info.AC=83553;ExAC.Info.AN=126678;ExAC.Info.AF=0.660;ExAC.Info.AC_Het=26974;ExAC.Info.AC_Hom=28168;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.627+16009T>C;snpeff.Gene_Name=RP4-735C1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431955;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser390Ser/c.1170A>G;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369805;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369805;SAVANT_GENE=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L3" target="_blank">EPS8L3</a>;SAVANT_INFO=-/13.9kb/19/2.3kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1170A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L3+c.1170A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110295772">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,31:67:99:901,0,1090:127	1|1:0,98:98:99:3091,294,0:127	0|1:47,45:92:99:1300,0,1399:127
1	110300441	.	G	A	11031.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3818562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818562" target="_blank">rs3818562</a>;ExAC.Info.AC=61320;ExAC.Info.AN=126704;ExAC.Info.AF=0.484;ExAC.Info.AC_Het=29595;ExAC.Info.AC_Hom=15846;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.628-17253G>A;snpeff.Gene_Name=RP4-735C1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431955;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Tac;snpeff.Amino_Acid_Change=p.His294Tyr/c.880C>T;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369805;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369805;SAVANT_GENE=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L3" target="_blank">EPS8L3</a>;SAVANT_INFO=-/13.9kb/19/2.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.880C>T_p.His294Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L3+c.880C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110300441">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1444,132,0:127	1|0:35,27:62:99:756,0,1077:127	1|1:0,55:55:99:1951,165,0:127
1	110300504	.	A	G	16037.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10776700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10776700" target="_blank">rs10776700</a>;ExAC.Info.AC=124568;ExAC.Info.AN=126704;ExAC.Info.AF=0.983;ExAC.Info.AC_Het=2085;ExAC.Info.AC_Hom=61228;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.836-19T>C;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369805;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.628-17190A>G;snpeff.Gene_Name=RP4-735C1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431955;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369805;SAVANT_GENE=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L3" target="_blank">EPS8L3</a>;SAVANT_INFO=-/13.9kb/19/2.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.836-19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L3+c.836-19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110300504">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2177,180,0:127	1|0:47,41:88:99:1185,0,1219:127	1|1:0,85:85:99:2894,255,0:127
1	110301260	.	C	T	798.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6693815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6693815" target="_blank">rs6693815</a>;ExAC.Info.AC=30695;ExAC.Info.AN=126660;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=20929;ExAC.Info.AC_Hom=4800;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GSTM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.628-16434C>T;snpeff.Gene_Name=RP4-735C1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431955;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly164Ser/c.490G>A;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTM5" target="_blank">GSTM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369805;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369805;SAVANT_GENE=EPS8L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L3" target="_blank">EPS8L3</a>;SAVANT_INFO=-/13.9kb/19/2.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.490G>A_p.Gly164Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L3+c.490G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110301260">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,997:77	0|0:42,0:42:99:0,126,1619:77	0|1:11,14:25:99:418,0,359:77
1	110456866	.	C	A	2688.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2297706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297706" target="_blank">rs2297706</a>;ExAC.Info.AC=28284;ExAC.Info.AN=126648;ExAC.Info.AF=0.223;ExAC.Info.AC_Het=20088;ExAC.Info.AC_Hom=3859;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.40-15C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.40C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.40C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329608;SAVANT_GENE=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;SAVANT_INFO=+/20.4kb/9/4.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.40-15C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSF1+c.40-15C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110456866">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,289,3446:127	0|1:30,46:76:99:1363,0,902:127	0|0:70,0:70:99:0,210,2574:127
1	110458234	.	G	A	5014.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2275123;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275123" target="_blank">rs2275123</a>;ExAC.Info.AC=23245;ExAC.Info.AN=126704;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=18523;ExAC.Info.AC_Hom=2357;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.163-22G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329608;SAVANT_GENE=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;SAVANT_INFO=+/20.4kb/9/4.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.163-22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSF1+c.163-22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110458234">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,379,4196:127	0|1:87,90:177:99:2526,0,2328:127	0|0:130,0:130:99:0,391,4396:127
1	110466338	.	C	A	39774.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=571;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs333970;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=333970" target="_blank">rs333970</a>;ExAC.Info.AC=70527;ExAC.Info.AN=126690;ExAC.Info.AF=0.557;ExAC.Info.AC_Het=29111;ExAC.Info.AC_Hom=20570;snpeff.Effect=sequence_feature[glycosylation_site:O-linked__GalNAc..._];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acA;snpeff.Amino_Acid_Change=p.Thr365Thr/c.1095C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329608;SAVANT_GENE=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;SAVANT_INFO=+/20.4kb/9/4.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1095C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSF1+c.1095C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110466338">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,185:185:99:6591,556,0:127	1|0:106,100:206:99:2835,0,2936:127	1|1:0,180:180:99:6395,541,0:127
1	110466466	.	T	C	3554.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1058885;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1058885" target="_blank">rs1058885</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Periodontitis|_association_with;hgmd_2014.2.OMIM_ID=120420;hgmd_2014.2.PubMed=16844084;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16844084" target="_blank">16844084</a>;ExAC.Info.AC=48084;ExAC.Info.AN=126696;ExAC.Info.AF=0.380;ExAC.Info.AC_Het=29073;ExAC.Info.AC_Hom=9420;snpeff.Effect=sequence_feature[region_of_interest:O-glycosylated_at_one_site];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu408Pro/c.1223T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329608;SAVANT_GENE=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;SAVANT_INFO=+/20.4kb/9/4.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1223T>C_p.Leu408Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSF1+c.1223T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110466466">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,283,3413:127	0|1:51,64:115:99:1796,0,1558:127	0|0:114,0:114:99:0,343,4081:127
1	110466709	.	T	C	34314.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs333971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=333971" target="_blank">rs333971</a>;ExAC.Info.AC=126583;ExAC.Info.AN=126698;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=110;ExAC.Info.AC_Hom=63129;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1466T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1466T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1466T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1466T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1466T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tCc;snpeff.Amino_Acid_Change=p.Phe489Ser/c.1466T>C;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329608;SAVANT_GENE=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;SAVANT_INFO=+/20.4kb/9/4.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1466T>C_p.Phe489Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSF1+c.1466T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110466709">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3921,339,0:127	1|1:0,157:157:99:5582,471,0:127	1|1:0,109:109:99:3850,327,0:127
1	110466810	.	C	A	2034.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2229166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229166" target="_blank">rs2229166</a>;ExAC.Info.AC=27698;ExAC.Info.AN=126202;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=19380;ExAC.Info.AC_Hom=3628;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cgg/Agg;snpeff.Amino_Acid_Change=p.Arg523Arg/c.1567C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567C>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329608;SAVANT_GENE=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;SAVANT_INFO=+/20.4kb/9/4.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1567C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSF1+c.1567C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110466810">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2016:127	0|1:41,37:78:99:1036,0,987:127	0|0:52,0:52:99:0,156,1812:127
1	110467745	.	A	G	21168.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs333972;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=333972" target="_blank">rs333972</a>;ExAC.Info.AC=126590;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=110;ExAC.Info.AC_Hom=63236;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1623-24A>G;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369802;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329608;SAVANT_GENE=CSF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSF1" target="_blank">CSF1</a>;SAVANT_INFO=+/20.4kb/9/4.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1623-24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSF1+c.1623-24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110467745">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:3159,244,0:127	1|1:0,108:108:99:4114,325,0:127	1|1:0,63:63:99:2231,189,0:127
1	110581780	.	T	G	4489.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1834;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1834" target="_blank">rs1834</a>;ExAC.Info.AC=32323;ExAC.Info.AN=126692;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=22292;ExAC.Info.AC_Hom=4990;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.326-14T>G;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=STRIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STRIP1" target="_blank">STRIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369795;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369795;SAVANT_GENE=FAM40A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM40A" target="_blank">FAM40A</a>;SAVANT_INFO=+/20.0kb/21/3.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.326-14T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM40A+c.326-14T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110581780">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,23:44:99:727,0,548:127	0|0:55,0:55:99:0,165,1961:127	1|0:28,29:57:99:878,0,862:127
1	110583335	.	G	A	1242.76	PASS	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;dbSNP139.ID=rs72687299;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72687299" target="_blank">rs72687299</a>;ExAC.Info.AC=2;ExAC.Info.AN=126622;ExAC.Info.AF=1.580e-05;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.650+10G>A;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=STRIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STRIP1" target="_blank">STRIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369795;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369795;SAVANT_GENE=FAM40A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM40A" target="_blank">FAM40A</a>;SAVANT_INFO=+/20.0kb/21/3.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.650+10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM40A+c.650+10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110583335">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,13:27:99:348,0,496:17	0/0:34,0:34:99:0,102,1397:17	0/0:33,0:33:99:0,99,1270:17
1	110592048	.	CT	C	635.69	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=34;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1789-33delT;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=STRIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STRIP1" target="_blank">STRIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369795;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369795;SAVANT_GENE=FAM40A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM40A" target="_blank">FAM40A</a>;SAVANT_INFO=+/20.0kb/21/3.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1789-15delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM40A+c.1789-15delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110592048">View</a>	GT:AD:DP:GQ:PL:TP	0/1:4,6:10:33:56,0,33:17	0/1:4,9:13:46:100,0,46:17	0/1:3,8:11:18:96,0,18:17
1	110612925	.	G	A	12282.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Frontonasal_dysplasia_1|_136760_(3);dbSNP139.ID=rs2274568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274568" target="_blank">rs2274568</a>;ExAC.Info.AC=65932;ExAC.Info.AN=105440;ExAC.Info.AF=0.625;ExAC.Info.AC_Het=19494;ExAC.Info.AC_Hom=18564;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=STRIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STRIP1" target="_blank">STRIP1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.277+33C>T;snpeff.Amino_Acid_length=343;snpeff.Gene_Name=ALX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STRIP1" target="_blank">STRIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369792;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369792;SAVANT_GENE=ALX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX3" target="_blank">ALX3</a>;SAVANT_INFO=-/10.6kb/4/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.277+33C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALX3+c.277+33C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110612925">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,64:105:99:1712,0,1170:127	0/1:49,56:105:99:1638,0,1429:127	0/1:38,60:98:99:1688,0,958:127
1	110709719	.	T	C	12089.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7527375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7527375" target="_blank">rs7527375</a>;ExAC.Info.AC=58128;ExAC.Info.AN=126664;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=29366;ExAC.Info.AC_Hom=13644;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.507A>G;snpeff.Gene_Name=RP5-1028L10.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1028L101" target="_blank">RP5-1028L101</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000443008;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168T>C;snpeff.Amino_Acid_length=727;snpeff.Gene_Name=SLC6A17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1028L101" target="_blank">RP5-1028L101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331565;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp56Asp/c.168T>C;snpeff.Amino_Acid_length=727;snpeff.Gene_Name=SLC6A17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1028L101" target="_blank">RP5-1028L101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331565;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331565;SAVANT_GENE=SLC6A17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A17" target="_blank">SLC6A17</a>;SAVANT_INFO=+/51.7kb/12/6.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.168T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A17+c.168T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110709719">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,22:47:99:889,0,1491:127	1|1:0,63:63:99:2823,190,0:127	0|1:20,31:51:99:1235,0,1180:127
1	110709720	.	G	A	12089.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12737742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12737742" target="_blank">rs12737742</a>;ExAC.Info.AC=47301;ExAC.Info.AN=126666;ExAC.Info.AF=0.373;ExAC.Info.AC_Het=27337;ExAC.Info.AC_Hom=9412;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.506C>T;snpeff.Gene_Name=RP5-1028L10.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1028L101" target="_blank">RP5-1028L101</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000443008;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.169G>A;snpeff.Amino_Acid_length=727;snpeff.Gene_Name=SLC6A17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1028L101" target="_blank">RP5-1028L101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331565;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala57Thr/c.169G>A;snpeff.Amino_Acid_length=727;snpeff.Gene_Name=SLC6A17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1028L101" target="_blank">RP5-1028L101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331565;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331565;SAVANT_GENE=SLC6A17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A17" target="_blank">SLC6A17</a>;SAVANT_INFO=+/51.7kb/12/6.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.169G>A_p.Ala57Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A17+c.169G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110709720">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,23:48:99:889,0,1491:127	1|1:0,63:63:99:2823,190,0:127	0|1:20,31:51:99:1235,0,1180:127
1	110738296	.	G	A	24403.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2784140;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2784140" target="_blank">rs2784140</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=52622;ExAC.Info.AN=126704;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=28373;ExAC.Info.AC_Hom=12113;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1581G>A;snpeff.Amino_Acid_length=727;snpeff.Gene_Name=SLC6A17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A17" target="_blank">SLC6A17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331565;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser527Ser/c.1581G>A;snpeff.Amino_Acid_length=727;snpeff.Gene_Name=SLC6A17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A17" target="_blank">SLC6A17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331565;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331565;SAVANT_GENE=SLC6A17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A17" target="_blank">SLC6A17</a>;SAVANT_INFO=+/51.7kb/12/6.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1581G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A17+c.1581G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110738296">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:2867,269,0:127	1|1:0,127:127:99:4479,382,0:127	1|1:0,85:85:99:2810,255,0:127
1	110882444	.	A	G	26935.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Megakaryoblastic_leukemia|_acute_(2);dbSNP139.ID=rs814771;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=814771" target="_blank">rs814771</a>;ExAC.Info.AC=95276;ExAC.Info.AN=125982;ExAC.Info.AF=0.756;ExAC.Info.AC_Het=21504;ExAC.Info.AC_Hom=34852;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly/Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.417A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=RBM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM15" target="_blank">RBM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu139Glu/c.417A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=RBM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM15" target="_blank">RBM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369784;SAVANT_GENE=RBM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM15" target="_blank">RBM15</a>;SAVANT_INFO=+/8.2kb/3/4.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.417A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM15+c.417A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110882444">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:3503,268,0:127	1|1:0,131:131:99:4964,394,0:127	1|0:58,51:109:99:1634,0,1808:127
1	110924235	.	T	C	5720.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs12120542;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12120542" target="_blank">rs12120542</a>;ExAC.Info.AC=10513;ExAC.Info.AN=126666;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=9243;ExAC.Info.AC_Hom=555;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.364+39A>G;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=SLC16A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A4" target="_blank">SLC16A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369779;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365T>C;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=SLC16A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A4" target="_blank">SLC16A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369779;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365T>C;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=SLC16A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A4" target="_blank">SLC16A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369779;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369779;SAVANT_GENE=SLC16A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A4" target="_blank">SLC16A4</a>;SAVANT_INFO=-/28.2kb/9/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.364+39A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC16A4+c.364+39A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110924235">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:916,72,0:71	1|1:0,36:36:99:1397,108,0:71	1|0:7,11:18:99:326,0,198:71
1	110949720	.	C	T	9819.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs6671673;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6671673" target="_blank">rs6671673</a>;ExAC.Info.AC=6765;ExAC.Info.AN=14396;ExAC.Info.AF=0.470;ExAC.Info.AC_Het=2853;ExAC.Info.AC_Hom=1537;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LAMTOR5-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMTOR5-AS1" target="_blank">LAMTOR5-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.281+488G>A;snpeff.Amino_Acid_length=173;snpeff.Gene_Name=LAMTOR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMTOR5-AS1" target="_blank">LAMTOR5-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256644;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256644;SAVANT_GENE=HBXIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBXIP" target="_blank">HBXIP</a>;SAVANT_INFO=-/6.7kb/4/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.281+488G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBXIP+c.281+488G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110949720">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1547,153,0:127	1|1:0,54:54:99:1873,162,0:127	1|0:29,14:43:99:317,0,855:127
1	110950439	.	C	T	23469.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6674775;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6674775" target="_blank">rs6674775</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=55137;ExAC.Info.AN=126688;ExAC.Info.AF=0.435;ExAC.Info.AC_Het=30221;ExAC.Info.AC_Hom=12231;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LAMTOR5-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMTOR5-AS1" target="_blank">LAMTOR5-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser17Asn/c.50G>A;snpeff.Amino_Acid_length=173;snpeff.Gene_Name=LAMTOR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMTOR5-AS1" target="_blank">LAMTOR5-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256644;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256644;SAVANT_GENE=HBXIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBXIP" target="_blank">HBXIP</a>;SAVANT_INFO=-/6.7kb/4/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.50G>A_p.Ser17Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBXIP+c.50G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110950439">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3386,304,0:127	1|1:0,143:143:99:4746,429,0:127	1|0:39,41:80:99:1053,0,1198:127
1	110998766	.	T	A	1518.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7551116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7551116" target="_blank">rs7551116</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.199-88T>A;snpeff.Amino_Acid_length=105;snpeff.Gene_Name=PROK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROK1" target="_blank">PROK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199T>A;snpeff.Amino_Acid_length=105;snpeff.Gene_Name=PROK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROK1" target="_blank">PROK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199T>A;snpeff.Amino_Acid_length=105;snpeff.Gene_Name=PROK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROK1" target="_blank">PROK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271331;SAVANT_GENE=PROK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROK1" target="_blank">PROK1</a>;SAVANT_INFO=+/6.2kb/3/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.199-88T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PROK1+c.199-88T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110998766">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,237,2861:127	0|0:131,0:131:99:0,394,4791:127	0|1:63,27:90:99:778,0,2016:127
1	110998854	.	G	A	3840.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=584;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7514102;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7514102" target="_blank">rs7514102</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=55149;ExAC.Info.AN=126696;ExAC.Info.AF=0.435;ExAC.Info.AC_Het=30337;ExAC.Info.AC_Hom=12369;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199G>A;snpeff.Amino_Acid_length=105;snpeff.Gene_Name=PROK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROK1" target="_blank">PROK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199G>A;snpeff.Amino_Acid_length=105;snpeff.Gene_Name=PROK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROK1" target="_blank">PROK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199G>A;snpeff.Amino_Acid_length=105;snpeff.Gene_Name=PROK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROK1" target="_blank">PROK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val67Ile/c.199G>A;snpeff.Amino_Acid_length=105;snpeff.Gene_Name=PROK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROK1" target="_blank">PROK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271331;SAVANT_GENE=PROK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROK1" target="_blank">PROK1</a>;SAVANT_INFO=+/6.2kb/3/1.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.199G>A_p.Val67Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PROK1+c.199G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:110998854">View</a>	GT:AD:DP:GQ:PL:TP	0|0:183,1:184:99:0,528,5977:127	0|0:227,0:227:99:0,682,7877:127	0|1:102,71:173:99:1939,0,3055:127
1	111060669	.	T	C	7970.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1281175;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1281175" target="_blank">rs1281175</a>;ExAC.Info.AC=89195;ExAC.Info.AN=126704;ExAC.Info.AF=0.704;ExAC.Info.AC_Het=25461;ExAC.Info.AC_Hom=31864;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu247Leu/c.741A>G;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=KCNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA10" target="_blank">KCNA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369771;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369771;SAVANT_GENE=KCNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA10" target="_blank">KCNA10</a>;SAVANT_INFO=-/2.0kb/1/2.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.741A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNA10+c.741A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111060669">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,33:61:99:1070,0,729:127	0/1:31,34:65:99:1084,0,845:127	0/1:33,34:67:99:1096,0,1015:127
1	111060752	.	C	T	2698.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34970857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34970857" target="_blank">rs34970857</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=8853;ExAC.Info.AN=126700;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=8172;ExAC.Info.AC_Hom=340;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658C>T;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=KCNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA10" target="_blank">KCNA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369771;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val220Met/c.658G>A;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=KCNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA10" target="_blank">KCNA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369771;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369771;SAVANT_GENE=KCNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA10" target="_blank">KCNA10</a>;SAVANT_INFO=-/2.0kb/1/2.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.658G>A_p.Val220Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNA10+c.658G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111060752">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2344:127	0|1:40,48:88:99:1368,0,1139:127	0|0:64,0:64:99:0,191,2377:127
1	111061062	.	T	C	15637.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=443;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1281174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1281174" target="_blank">rs1281174</a>;ExAC.Info.AC=89193;ExAC.Info.AN=126702;ExAC.Info.AF=0.704;ExAC.Info.AC_Het=25438;ExAC.Info.AC_Hom=31842;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu116Glu/c.348A>G;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=KCNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA10" target="_blank">KCNA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369771;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369771;SAVANT_GENE=KCNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA10" target="_blank">KCNA10</a>;SAVANT_INFO=-/2.0kb/1/2.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.348A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNA10+c.348A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111061062">View</a>	GT:AD:DP:GQ:PL:TP	0/1:52,71:123:99:2127,0,1431:127	0/1:75,81:156:99:2493,0,1948:127	0/1:87,77:164:99:2275,0,2571:127
1	111136611	.	G	A	4301.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17026168;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17026168" target="_blank">rs17026168</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=KCNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA2" target="_blank">KCNA2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA2" target="_blank">KCNA2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNA2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111136611">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,25:52:99:618,0,665:127	0|0:77,1:78:99:0,194,2634:127	1|0:27,27:54:99:718,0,801:127
1	111144661	.	A	G	3309.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12407942;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12407942" target="_blank">rs12407942</a>;ExAC.Info.AC=2529;ExAC.Info.AN=21364;ExAC.Info.AF=0.118;ExAC.Info.AC_Het=1925;ExAC.Info.AC_Hom=247;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=KCNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA2" target="_blank">KCNA2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000485317;SAVANT_GENE=KCNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNA2" target="_blank">KCNA2</a>;SAVANT_INFO=-/5.4kb/3/3.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1244T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNA2+c.*1244T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111144661">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,23:43:99:657,0,559:127	0|0:64,0:64:99:0,192,2145:127	1|0:21,24:45:99:708,0,612:127
1	111436857	.	T	G	13730.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1578956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1578956" target="_blank">rs1578956</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.253-92T>G;snpeff.Amino_Acid_length=219;snpeff.Gene_Name=CD53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD53" target="_blank">CD53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271324;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.253T>G;snpeff.Amino_Acid_length=219;snpeff.Gene_Name=CD53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD53" target="_blank">CD53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271324;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.253T>G;snpeff.Amino_Acid_length=219;snpeff.Gene_Name=CD53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD53" target="_blank">CD53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271324;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271324;SAVANT_GENE=CD53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD53" target="_blank">CD53</a>;SAVANT_INFO=+/26.8kb/8/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.253-92T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD53+c.253-92T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111436857">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,43:86:99:1689,0,2233:127	0/1:47,58:105:99:2256,0,2301:127	0/1:57,38:95:99:1476,0,2732:127
1	111436858	.	C	T	13730.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1936943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1936943" target="_blank">rs1936943</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.253-91C>T;snpeff.Amino_Acid_length=219;snpeff.Gene_Name=CD53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD53" target="_blank">CD53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271324;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.253C>T;snpeff.Amino_Acid_length=219;snpeff.Gene_Name=CD53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD53" target="_blank">CD53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271324;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.253C>T;snpeff.Amino_Acid_length=219;snpeff.Gene_Name=CD53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD53" target="_blank">CD53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271324;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271324;SAVANT_GENE=CD53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD53" target="_blank">CD53</a>;SAVANT_INFO=+/26.8kb/8/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.253-91C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD53+c.253-91C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111436858">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,43:86:99:1689,0,2233:127	0/1:47,58:105:99:2256,0,2301:127	0/1:57,40:97:99:1476,0,2732:127
1	111441829	.	C	T	12184.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1803259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1803259" target="_blank">rs1803259</a>;ExAC.Info.AC=86956;ExAC.Info.AN=126686;ExAC.Info.AF=0.686;ExAC.Info.AC_Het=25103;ExAC.Info.AC_Hom=30747;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.*12C>T;snpeff.Amino_Acid_length=219;snpeff.Gene_Name=CD53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD53" target="_blank">CD53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271324;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271324;SAVANT_GENE=CD53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD53" target="_blank">CD53</a>;SAVANT_INFO=+/26.8kb/8/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*12C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD53+c.*12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111441829">View</a>	GT:AD:DP:GQ:PL:TP	0/1:76,63:139:99:1655,0,2274:127	0/1:76,63:139:99:1661,0,2183:127	0/1:47,64:111:99:1886,0,1452:127
1	111661413	.	T	C	15998.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs325916;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=325916" target="_blank">rs325916</a>;ExAC.Info.AC=50531;ExAC.Info.AN=126322;ExAC.Info.AF=0.400;ExAC.Info.AC_Het=26594;ExAC.Info.AC_Hom=10025;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.693+14A>G;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=DRAM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRAM2" target="_blank">DRAM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539140;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000286692;SAVANT_GENE=DRAM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRAM2" target="_blank">DRAM2</a>;SAVANT_INFO=-/22.7kb/9/2.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.693+14A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DRAM2+c.693+14A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111661413">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,72:148:99:2224,0,2066:127	0|0:155,1:156:99:0,427,5352:127	1|1:0,145:145:99:5267,436,0:127
1	111661528	.	T	C	6754.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs325917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=325917" target="_blank">rs325917</a>;ExAC.Info.AC=27990;ExAC.Info.AN=126486;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=19393;ExAC.Info.AC_Hom=3700;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.601-9A>G;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=DRAM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRAM2" target="_blank">DRAM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539140;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000286692;SAVANT_GENE=DRAM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRAM2" target="_blank">DRAM2</a>;SAVANT_INFO=-/22.7kb/9/2.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.601-9A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DRAM2+c.601-9A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111661528">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,65:126:99:1670,0,1918:127	0|0:154,0:154:99:0,463,5457:127	1|0:56,45:101:99:1309,0,1725:127
1	111726213	.	A	G	11062.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs694180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=694180" target="_blank">rs694180</a>;ExAC.Info.AC=88593;ExAC.Info.AN=126688;ExAC.Info.AF=0.699;ExAC.Info.AC_Het=25752;ExAC.Info.AC_Hom=31400;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1131+4A>G;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=CEPT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEPT1" target="_blank">CEPT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357172;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1132A>G;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=CEPT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEPT1" target="_blank">CEPT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357172;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1132A>G;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=CEPT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEPT1" target="_blank">CEPT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357172;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1132A>G;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=CEPT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEPT1" target="_blank">CEPT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357172;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545121;SAVANT_GENE=CEPT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEPT1" target="_blank">CEPT1</a>;SAVANT_INFO=+/45.5kb/9/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1131+4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEPT1+c.1131+4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111726213">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:2013,162,0:127	1|0:22,27:49:99:873,0,704:127	1|1:0,56:56:99:2096,168,0:127
1	111726869	.	G	A	13146.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=637;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3795823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795823" target="_blank">rs3795823</a>;ExAC.Info.AC=30944;ExAC.Info.AN=126700;ExAC.Info.AF=0.244;ExAC.Info.AC_Het=22473;ExAC.Info.AC_Hom=4232;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala396Ala/c.1188G>A;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=CEPT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEPT1" target="_blank">CEPT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357172;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545121;SAVANT_GENE=CEPT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEPT1" target="_blank">CEPT1</a>;SAVANT_INFO=+/45.5kb/9/2.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1188G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEPT1+c.1188G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111726869">View</a>	GT:AD:DP:GQ:PL:TP	0|1:116,97:213:99:2446,0,3240:127	1|0:126,106:232:99:2799,0,3485:127	0|0:192,0:192:99:0,576,6573:127
1	111730901	.	C	T	1294.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs608881;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=608881" target="_blank">rs608881</a>;ExAC.Info.AC=23268;ExAC.Info.AN=126704;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=18360;ExAC.Info.AC_Hom=2453;snpeff.Effect=sequence_feature[domain:dDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1191C>T;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu397Glu/c.1191G>A;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357640;SAVANT_GENE=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;SAVANT_INFO=-/13.5kb/12/2.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1191G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND2D+c.1191G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111730901">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,183,2379:127	0|0:57,1:58:99:0,135,2016:127	0|1:26,23:49:99:666,0,825:127
1	111739771	.	G	GCAGGACAAA	16295.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3833538;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3833538" target="_blank">rs3833538</a>;ExAC.Info.AC=61117;ExAC.Info.AN=126502;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=26894;ExAC.Info.AC_Hom=13873;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.504+27_504+26insTTTGTCCTG;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505_506insCAGGACAAA;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505_506insCAGGACAAA;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505_506insCAGGACAAA;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505_506insCAGGACAAA;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505_506insCAGGACAAA;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000357640;SAVANT_GENE=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;SAVANT_INFO=-/13.5kb/12/2.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.504+26_504+27insTTTGTCCTG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND2D+c.504+26_504+27insTTTGTCCTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111739771">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,77:78:99:2831,236,0:127	1|0:57,44:101:99:1472,0,3089:127	1|0:52,35:87:99:959,0,2861:127
1	111741322	.	G	A	6715.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35184750;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35184750" target="_blank">rs35184750</a>;ExAC.Info.AC=1816;ExAC.Info.AN=126704;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1770;ExAC.Info.AC_Hom=23;snpeff.Effect=sequence_feature[domain:UDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.286G>A;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.286G>A;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.286G>A;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu96Leu/c.286C>T;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357640;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357640;SAVANT_GENE=DENND2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2D" target="_blank">DENND2D</a>;SAVANT_INFO=-/13.5kb/12/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.286C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND2D+c.286C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111741322">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,36:85:99:928,0,1449:127	1|0:48,51:99:99:1544,0,1369:127	0|0:75,0:75:99:0,224,2583:127
1	111770423	.	T	G	13417.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs755467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=755467" target="_blank">rs755467</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Increased_promoter_activity;hgmd_2014.2.OMIM_ID=601526;hgmd_2014.2.PubMed=16251966;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16251966" target="_blank">16251966</a>;ExAC.Info.AC=90317;ExAC.Info.AN=126704;ExAC.Info.AF=0.713;ExAC.Info.AC_Het=25784;ExAC.Info.AC_Hom=32196;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.40+32T>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.40+32T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.40+32T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111770423">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2316,192,0:127	1|1:0,47:47:99:1684,141,0:127	1|1:0,54:54:99:2026,162,0:127
1	111773568	.	G	C	21768.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2255089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2255089" target="_blank">rs2255089</a>;ExAC.Info.AC=54330;ExAC.Info.AN=126696;ExAC.Info.AF=0.429;ExAC.Info.AC_Het=30131;ExAC.Info.AC_Hom=11776;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.272+3G>C;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.273G>C;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.272+3G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.272+3G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111773568">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,44:103:99:1383,0,1904:127	0|1:84,82:166:99:2527,0,2577:127	1|1:0,146:146:99:5540,439,0:127
1	111773600	.	A	G	2937.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2274232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274232" target="_blank">rs2274232</a>;ExAC.Info.AC=14601;ExAC.Info.AN=126646;ExAC.Info.AF=0.115;ExAC.Info.AC_Het=11634;ExAC.Info.AC_Hom=1120;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.272+35A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.272+35A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.272+35A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111773600">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,196,2304:127	0|1:65,46:111:99:1488,0,2036:127	0|0:108,0:108:99:0,325,3910:127
1	111773830	.	A	T	13883.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2147789;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2147789" target="_blank">rs2147789</a>;ExAC.Info.AC=54490;ExAC.Info.AN=126694;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=30144;ExAC.Info.AC_Hom=11968;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.273-30A>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.273-30A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.273-30A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111773830">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,48:109:99:1241,0,1528:127	0|1:51,57:108:99:1568,0,1417:127	1|1:0,113:113:99:3522,339,0:127
1	111778241	.	C	T	6276.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2764544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2764544" target="_blank">rs2764544</a>;ExAC.Info.AC=125319;ExAC.Info.AN=126674;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1201;ExAC.Info.AC_Hom=61681;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.481-20C>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.481-20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.481-20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111778241">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:557,45,0:68	1|1:0,37:37:99:1395,111,0:68	1|1:0,23:23:69:882,69,0:68
1	111783942	.	C	T	1492.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs56403938;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56403938" target="_blank">rs56403938</a>;ExAC.Info.AC=14687;ExAC.Info.AN=126704;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=12121;ExAC.Info.AC_Hom=1283;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.919-7C>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.919-7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.919-7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111783942">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,678:57	0|1:26,23:49:99:765,0,867:57	0|0:39,0:39:99:0,117,1472:57
1	111783982	.	C	A	14696.76	PASS	InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=1/1;NA12891_GT=./0;dbSNP139.ID=rs13721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13721" target="_blank">rs13721</a>;ExAC.Info.AC=35070;ExAC.Info.AN=126704;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=34370;ExAC.Info.AC_Hom=1826;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cgg/Agg;snpeff.Amino_Acid_Change=p.Arg318Arg/c.952C>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.952C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.952C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111783982">View</a>	GT:AD:DP:GQ:PL	./1:0,22:46:99:1336,715,649	./0:46,0:93:99:1215,1353,2769	1/1:0,76:76:99:2631,228,0
1	111783982	.	C	T	14696.76	PASS	InheritancePattern=unknown;AC=2;AF=0.667;AN=3;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./.;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13721" target="_blank">rs13721</a>;ExAC.Info.AC=18738;ExAC.Info.AN=126704;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=34370;ExAC.Info.AC_Hom=1826;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg318Trp/c.952C>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.952C>T_p.Arg318Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.952C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111783982">View</a>	GT:AD:DP:GQ:PL	./1:0,24:46:99:1336,621,548	0/1:46,47:93:99:1215,0,1275	./.:0,0:76:99:2631,2631,2631
1	111783996	.	A	G	22723.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2494007;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2494007" target="_blank">rs2494007</a>;ExAC.Info.AC=126680;ExAC.Info.AN=126702;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=20;ExAC.Info.AC_Hom=63316;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln322Gln/c.966A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.966A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.966A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111783996">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1830,159,0:127	1|1:0,98:98:99:3350,294,0:127	1|1:0,86:86:99:3110,258,0:127
1	111784138	.	T	C	4481.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs942694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=942694" target="_blank">rs942694</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1035+73T>C;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1035+73T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.1035+73T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111784138">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,15:25:99:429,0,316:125	0|0:44,0:44:99:0,132,1708:125	1|1:0,42:42:99:1466,126,0:125
1	111784148	.	T	G	10446.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2764551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2764551" target="_blank">rs2764551</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1035+83T>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1035+83T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.1035+83T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111784148">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,22:22:66:958,66,0:98	1|1:0,37:37:99:1442,111,0:98	1|1:0,32:32:99:1478,99,0:98
1	111784158	.	T	C	3172.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs942693;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=942693" target="_blank">rs942693</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1035+93T>C;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1035+93T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.1035+93T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111784158">View</a>	GT:AD:DP:GQ:PL:TP	1|0:7,11:18:99:353,0,218:83	0|0:32,0:32:96:0,96,1267:83	1|1:0,28:28:84:978,84,0:83
1	111784816	.	G	A	3608.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11102221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11102221" target="_blank">rs11102221</a>;ExAC.Info.AC=35432;ExAC.Info.AN=126698;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=24623;ExAC.Info.AC_Hom=5384;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1036-33G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445067;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445067;SAVANT_GENE=CHI3L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L2" target="_blank">CHI3L2</a>;SAVANT_INFO=+/42.7kb/13/2.2kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1036-33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L2+c.1036-33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111784816">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,20:40:99:545,0,568:127	1|0:45,28:73:99:715,0,1179:127	0|0:51,0:51:99:0,153,1565:127
1	111826055	.	A	G	6929.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=155;MQ=58.54;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12140873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12140873" target="_blank">rs12140873</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1396+24A>G;snpeff.Gene_Name=CHIAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIAP2" target="_blank">CHIAP2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000369743;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIAP2" target="_blank">CHIAP2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIAP2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111826055">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,22:49:99:680,0,846:104	1|1:0,71:71:99:2622,214,0:104	0|0:35,0:35:99:0,105,1314:104
1	111853174	.	C	T	9241.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56387509;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56387509" target="_blank">rs56387509</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.25+60C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.26C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.26C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.26C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.25+60C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.25+60C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111853174">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,65:130:99:2037,0,2050:127	1|0:78,64:142:99:1965,0,2655:127	0|0:174,0:174:99:0,523,6582:127
1	111854755	.	A	C	38244.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=480;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4423003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4423003" target="_blank">rs4423003</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.56-57A>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56A>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56A>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56A>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.56-57A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.56-57A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111854755">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4635,411,0:127	1|1:0,189:189:99:6474,566,0:127	1|1:0,154:154:99:5287,462,0:127
1	111857154	.	T	C	16849.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2786152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2786152" target="_blank">rs2786152</a>;ExAC.Info.AC=81700;ExAC.Info.AN=125144;ExAC.Info.AF=0.653;ExAC.Info.AC_Het=26132;ExAC.Info.AC_Hom=27716;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.258-8T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.258-8T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.258-8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111857154">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3559,303,0:127	1|0:59,62:121:99:1766,0,1663:127	1|0:48,58:106:99:1758,0,1295:127
1	111857276	.	T	C	8368.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41391244;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41391244" target="_blank">rs41391244</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.314+58T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.314+58T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.314+58T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111857276">View</a>	GT:AD:DP:GQ:PL:TP	0|1:92,64:156:99:1489,0,2609:127	1|0:81,70:151:99:1980,0,2396:127	0|0:137,0:137:99:0,411,4540:127
1	111858444	.	C	T	22048.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=539;MQ=69.40;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2786156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2786156" target="_blank">rs2786156</a>;ExAC.Info.AC=11047;ExAC.Info.AN=14956;ExAC.Info.AF=0.739;ExAC.Info.AC_Het=1775;ExAC.Info.AC_Hom=3779;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.480+387C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.480+387C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.480+387C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111858444">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:4864,445,0:127	1|0:125,84:209:99:2119,0,3685:127	1|0:103,79:182:99:1994,0,2942:127
1	111858483	.	C	T	4594.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=400;MQ=69.40;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72693264;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72693264" target="_blank">rs72693264</a>;ExAC.Info.AC=10;ExAC.Info.AN=15758;ExAC.Info.AF=6.346e-04;ExAC.Info.AC_Het=9;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.480+426C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.480+426C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.480+426C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111858483">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,367,4050:127	0|0:153,1:154:99:0,437,5204:127	0|1:47,77:124:99:2316,0,1243:127
1	111858499	.	A	G	5568.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=354;MQ=69.49;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6661725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6661725" target="_blank">rs6661725</a>;ExAC.Info.AC=7744;ExAC.Info.AN=14566;ExAC.Info.AF=0.532;ExAC.Info.AC_Het=2631;ExAC.Info.AC_Hom=2205;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.480+442A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.480+442A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.480+442A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111858499">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,43:108:99:1255,0,1798:127	0|0:140,0:140:99:0,421,4966:127	1|0:65,41:106:99:1228,0,1936:127
1	111858525	.	TAAATATAAGAATAAGA	T	3221.98	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=236;MQ=69.46;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs371155945;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371155945" target="_blank">rs371155945</a>;ExAC.Info.AC=7385;ExAC.Info.AN=14336;ExAC.Info.AF=0.515;ExAC.Info.AC_Het=2476;ExAC.Info.AC_Hom=1853;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.480+469_480+484delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481_496delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481_496delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481_496delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481_496delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481_496delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481_496delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481_496delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481_496delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481_496delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481_496delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481_496delAAATATAAGAATAAGA;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.480+469_480+484del16;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.480+469_480+484del16+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111858525">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,22:63:99:698,0,1652:127	0|0:102,0:102:99:0,305,4577:127	1|0:51,20:71:99:634,0,2077:127
1	111861714	.	T	A	15981.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2786161;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2786161" target="_blank">rs2786161</a>;ExAC.Info.AC=80310;ExAC.Info.AN=126640;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=26958;ExAC.Info.AC_Hom=26084;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.916-28T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.149-1165A>T;snpeff.Gene_Name=RP5-1125M8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000426321;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916T>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.916-28T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.916-28T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111861714">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2825,249,0:127	1|0:62,61:123:99:1714,0,1735:127	1|0:61,59:120:99:1709,0,1845:127
1	111861841	.	A	G	23498.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275253" target="_blank">rs2275253</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=82893;ExAC.Info.AN=126702;ExAC.Info.AF=0.654;ExAC.Info.AC_Het=26396;ExAC.Info.AC_Hom=28226;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.149-1292T>C;snpeff.Gene_Name=RP5-1125M8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000426321;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile339Val/c.1015A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1015A>G_p.Ile339Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.1015A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111861841">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,143:144:99:4948,401,0:127	1|0:86,82:168:99:2554,0,2588:127	1|0:99,61:160:99:1877,0,3033:127
1	111861974	.	T	C	35519.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=670;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275254;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275254" target="_blank">rs2275254</a>;ExAC.Info.AC=64313;ExAC.Info.AN=126702;ExAC.Info.AF=0.508;ExAC.Info.AC_Het=29908;ExAC.Info.AC_Hom=17187;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.149-1425A>G;snpeff.Gene_Name=RP5-1125M8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000426321;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1061T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tCt;snpeff.Amino_Acid_Change=p.Phe354Ser/c.1061T>C;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1061T>C_p.Phe354Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.1061T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111861974">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,223:223:99:7949,670,0:127	1|0:111,113:224:99:3382,0,2987:127	1|0:112,111:223:99:3352,0,2994:127
1	111862952	.	T	G	19690.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2256721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2256721" target="_blank">rs2256721</a>;ExAC.Info.AC=82838;ExAC.Info.AN=126704;ExAC.Info.AF=0.654;ExAC.Info.AC_Het=26429;ExAC.Info.AC_Hom=28153;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.149-2403A>C;snpeff.Gene_Name=RP5-1125M8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000426321;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Chitin-binding_type-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1295T>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gGc;snpeff.Amino_Acid_Change=p.Val432Gly/c.1295T>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1125M82" target="_blank">RP5-1125M82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343320;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369740;SAVANT_GENE=CHIA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIA" target="_blank">CHIA</a>;SAVANT_INFO=+/29.6kb/12/1.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1295T>G_p.Val432Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIA+c.1295T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:111862952">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3824,312,0:127	1|0:66,63:129:99:2027,0,1959:127	1|0:55,55:110:99:1746,0,1539:127
1	112028515	.	T	C	4086.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72695203;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72695203" target="_blank">rs72695203</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.873-53A>G;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369716;SAVANT_GENE=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;SAVANT_INFO=-/20.1kb/6/1.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.873-53A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADORA3+c.873-53A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112028515">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,318,3623:127	0|1:54,65:119:99:2062,0,1589:127	0|0:105,0:105:99:0,316,3630:127
1	112029193	.	A	G	8723.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2252739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2252739" target="_blank">rs2252739</a>;ExAC.Info.AC=103051;ExAC.Info.AN=126704;ExAC.Info.AF=0.813;ExAC.Info.AC_Het=18936;ExAC.Info.AC_Hom=41881;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.872+15T>C;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369716;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369716;SAVANT_GENE=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;SAVANT_INFO=-/20.1kb/6/1.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.872+15T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADORA3+c.872+15T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112029193">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:848,72,0:86	1|1:0,43:43:99:1454,129,0:86	1|1:0,29:29:87:983,87,0:86
1	112029325	.	A	G	9656.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2800906;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2800906" target="_blank">rs2800906</a>;ExAC.Info.AC=102262;ExAC.Info.AN=126494;ExAC.Info.AF=0.808;ExAC.Info.AC_Het=18069;ExAC.Info.AC_Hom=39336;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.806-51T>C;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369716;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369716;SAVANT_GENE=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;SAVANT_INFO=-/20.1kb/6/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.806-51T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADORA3+c.806-51T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112029325">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1525,132,0:86	1|1:0,50:50:99:1568,150,0:86	1|1:0,29:29:87:1052,87,0:86
1	112032347	.	G	A	21933.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2789539;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2789539" target="_blank">rs2789539</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.458-701C>T;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369716;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369716;SAVANT_GENE=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;SAVANT_INFO=-/20.1kb/6/1.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.458-701C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADORA3+c.458-701C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112032347">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2876,264,0:127	1|1:0,88:88:99:3121,265,0:127	1|1:0,94:94:99:3189,282,0:127
1	112033456	.	G	GA	20935.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3831359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3831359" target="_blank">rs3831359</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.351-72_351-73insT;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369716;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369716;SAVANT_GENE=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;SAVANT_INFO=-/20.1kb/6/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.351-73dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADORA3+c.351-73dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112033456">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2896,261,0:127	1|1:0,93:93:99:3113,280,0:127	1|1:0,85:85:99:2844,256,0:127
1	112042632	.	A	G	51557.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=640;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2229155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229155" target="_blank">rs2229155</a>;ExAC.Info.AC=102177;ExAC.Info.AN=126704;ExAC.Info.AF=0.806;ExAC.Info.AC_Het=19509;ExAC.Info.AC_Hom=41311;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.350+2995T>C;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369716;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369716;SAVANT_GENE=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA3" target="_blank">ADORA3</a>;SAVANT_INFO=-/20.1kb/6/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.350+2995T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADORA3+c.350+2995T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112042632">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,176:176:99:6162,528,0:127	1|1:0,253:253:99:8817,760,0:127	1|1:0,211:211:99:7528,634,0:127
1	112106444	.	G	A	12461.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1591712;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1591712" target="_blank">rs1591712</a>;ExAC.Info.AC=113781;ExAC.Info.AN=125310;ExAC.Info.AF=0.908;ExAC.Info.AC_Het=10195;ExAC.Info.AC_Hom=51544;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RAP1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1A" target="_blank">RAP1A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ADORA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1A" target="_blank">RAP1A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1A" target="_blank">RAP1A</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1A+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112106444">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,37:77:99:1026,0,1268:127	1|1:0,94:94:99:3222,282,0:127	0|1:38,31:69:99:849,0,1132:127
1	112234084	.	G	T	6302.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10489469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10489469" target="_blank">rs10489469</a>;ExAC.Info.AC=19532;ExAC.Info.AN=126688;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=16148;ExAC.Info.AC_Hom=1578;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FAM212B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM212B" target="_blank">FAM212B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.57+45G>T;snpeff.Amino_Acid_length=184;snpeff.Gene_Name=RAP1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM212B" target="_blank">FAM212B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436150;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369709;SAVANT_GENE=RAP1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1A" target="_blank">RAP1A</a>;SAVANT_INFO=+/96.9kb/8/5.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.57+45G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1A+c.57+45G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112234084">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,0:95:99:0,285,3615:127	0|1:64,66:130:99:1851,0,1998:127	0|1:50,48:98:99:1320,0,1704:127
1	112240038	.	CTT	C	2141.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=221;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FAM212B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM212B" target="_blank">FAM212B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.127-24_127-23delTT;snpeff.Amino_Acid_length=184;snpeff.Gene_Name=RAP1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM212B" target="_blank">FAM212B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436150;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369709;SAVANT_GENE=RAP1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1A" target="_blank">RAP1A</a>;SAVANT_INFO=+/96.9kb/8/5.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.127-12_127-11delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1A+c.127-12_127-11delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112240038">View</a>	GT:AD:DP:GQ:PL	./0:44,10:62:27:118,27,1490	./0:56,25:105:53:550,53,2000	0/1:36,13:54:99:223,0,1005
1	112240038	.	CTT	CT	2141.29	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=221;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FAM212B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM212B" target="_blank">FAM212B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.127-23delT;snpeff.Amino_Acid_length=184;snpeff.Gene_Name=RAP1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM212B" target="_blank">FAM212B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436150;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369709;SAVANT_GENE=RAP1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAP1A" target="_blank">RAP1A</a>;SAVANT_INFO=+/96.9kb/8/5.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.127-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAP1A+c.127-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112240038">View</a>	GT:AD:DP:GQ:PL	0/1:44,8:62:27:118,0,744	0/1:56,24:105:53:550,0,1105	./0:36,5:54:99:223,134,729
1	112269872	.	G	A	28098.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs197434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=197434" target="_blank">rs197434</a>;ExAC.Info.AC=104335;ExAC.Info.AN=126702;ExAC.Info.AF=0.823;ExAC.Info.AC_Het=17849;ExAC.Info.AC_Hom=43214;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe204Phe/c.612C>T;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=FAM212B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM212B" target="_blank">FAM212B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357260;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357260;SAVANT_GENE=C1orf183;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf183" target="_blank">C1orf183</a>;SAVANT_INFO=-/17.4kb/2/6.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.612C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf183+c.612C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112269872">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:4352,361,0:127	1|1:1,148:149:99:5493,423,0:127	1|0:69,69:138:99:1978,0,2072:127
1	112298378	.	T	C	2538.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs28372703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28372703" target="_blank">rs28372703</a>;ExAC.Info.AC=19466;ExAC.Info.AN=125408;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=15973;ExAC.Info.AC_Hom=1714;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FAM212B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM212B" target="_blank">FAM212B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=169;snpeff.Amino_Acid_Change=c.-169T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM212B" target="_blank">FAM212B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM212B" target="_blank">FAM212B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369702;SAVANT_GENE=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;SAVANT_INFO=+/12.7kb/11/4.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-169T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX20+c.-169T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112298378">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2543:127	0|0:99,0:99:99:0,297,3212:127	0|1:34,41:75:99:1288,0,949:127
1	112298582	.	A	G	9514.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs197392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=197392" target="_blank">rs197392</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=23832;ExAC.Info.AN=126140;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=16865;ExAC.Info.AC_Hom=2611;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala12Ala/c.36A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369702;SAVANT_GENE=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;SAVANT_INFO=+/12.7kb/11/4.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.36A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX20+c.36A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112298582">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1637,156,0:127	1|0:25,26:51:99:772,0,718:127	1|0:21,25:46:99:714,0,589:127
1	112302208	.	G	T	2168.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs560170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=560170" target="_blank">rs560170</a>;ExAC.Info.AC=19265;ExAC.Info.AN=126690;ExAC.Info.AF=0.152;ExAC.Info.AC_Het=15773;ExAC.Info.AC_Hom=1684;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.565+18G>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369702;SAVANT_GENE=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;SAVANT_INFO=+/12.7kb/11/4.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.565+18G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX20+c.565+18G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112302208">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,3061:127	0|0:93,0:93:99:0,279,3237:127	0|1:60,39:99:99:1103,0,1801:127
1	112302219	.	G	A	9157.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs538779;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=538779" target="_blank">rs538779</a>;ExAC.Info.AC=26978;ExAC.Info.AN=126658;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=20708;ExAC.Info.AC_Hom=3014;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.565+29G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.566G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369702;SAVANT_GENE=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;SAVANT_INFO=+/12.7kb/11/4.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.565+29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX20+c.565+29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112302219">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,30:77:99:869,0,1445:127	0|0:83,0:83:99:0,249,2931:127	1|1:0,88:88:99:3166,265,0:127
1	112303260	.	A	G	6985.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs169093;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=169093" target="_blank">rs169093</a>;ExAC.Info.AC=14218;ExAC.Info.AN=126634;ExAC.Info.AF=0.112;ExAC.Info.AC_Het=12067;ExAC.Info.AC_Hom=1015;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.680+50A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369702;SAVANT_GENE=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;SAVANT_INFO=+/12.7kb/11/4.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.680+50A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX20+c.680+50A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112303260">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,45:76:99:1414,0,805:127	1|0:75,51:126:99:1677,0,2263:127	0|0:116,0:116:99:0,349,4125:127
1	112305406	.	TA	T	4845.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1210+3delA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211delA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211delA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211delA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211delA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211delA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211delA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211delA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369702;SAVANT_GENE=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;SAVANT_INFO=+/12.7kb/11/4.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1210+18delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX20+c.1210+18delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112305406">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,49:105:99:755,0,1015:127	0/1:73,54:127:99:657,0,1332:127	0/1:67,58:125:99:842,0,1186:127
1	112308953	.	T	C	32967.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs197412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=197412" target="_blank">rs197412</a>;ExAC.Info.AC=54092;ExAC.Info.AN=126694;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=29780;ExAC.Info.AC_Hom=12104;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile636Thr/c.1907T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369702;SAVANT_GENE=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;SAVANT_INFO=+/12.7kb/11/4.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1907T>C_p.Ile636Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX20+c.1907T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112308953">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:5532,385,0:127	1|0:54,88:142:99:3384,0,2825:127	1|1:0,122:122:99:5327,367,0:127
1	112308972	.	G	A	32415.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs197413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=197413" target="_blank">rs197413</a>;ExAC.Info.AC=54162;ExAC.Info.AN=126700;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=29719;ExAC.Info.AC_Hom=12167;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val642Val/c.1926G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369702;SAVANT_GENE=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;SAVANT_INFO=+/12.7kb/11/4.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1926G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX20+c.1926G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112308972">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:5637,403,0:127	1|0:57,80:137:99:3092,0,2862:127	1|1:0,126:126:99:5416,379,0:127
1	112309123	.	C	A	18051.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=826;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs197414;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=197414" target="_blank">rs197414</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Bladder_cancer|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=606168;hgmd_2014.2.PubMed=18381463;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=18381463" target="_blank">18381463</a>;ExAC.Info.AC=16144;ExAC.Info.AN=126704;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=13256;ExAC.Info.AC_Hom=1434;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Agt;snpeff.Amino_Acid_Change=p.Arg693Ser/c.2077C>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369702;SAVANT_GENE=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;SAVANT_INFO=+/12.7kb/11/4.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2077C>A_p.Arg693Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX20+c.2077C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112309123">View</a>	GT:AD:DP:GQ:PL:TP	0|1:132,142:274:99:3823,0,3713:127	1|0:135,158:293:99:4539,0,3780:127	0|0:259,0:259:99:0,779,9238:127
1	112309331	.	T	C	13913.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=571;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs85276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=85276" target="_blank">rs85276</a>;ExAC.Info.AC=16152;ExAC.Info.AN=126704;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=13269;ExAC.Info.AC_Hom=1439;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile762Thr/c.2285T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369702;SAVANT_GENE=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;SAVANT_INFO=+/12.7kb/11/4.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2285T>C_p.Ile762Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX20+c.2285T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112309331">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,66:137:99:2120,0,1859:127	1|0:123,119:242:99:3474,0,3349:127	0|0:191,1:192:99:0,552,6368:127
1	112309437	.	G	T	4216.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=442;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72692528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72692528" target="_blank">rs72692528</a>;ExAC.Info.AC=8;ExAC.Info.AN=126700;ExAC.Info.AF=6.314e-05;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tgG/tgT;snpeff.Amino_Acid_Change=p.Trp797Cys/c.2391G>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369702;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369702;SAVANT_GENE=DDX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX20" target="_blank">DDX20</a>;SAVANT_INFO=+/12.7kb/11/4.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2391G>T_p.Trp797Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX20+c.2391G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112309437">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,355,4146:127	0|0:181,0:181:99:0,544,6345:127	0|1:66,77:143:99:2127,0,1810:127
1	112318484	.	A	G	420.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Spinocerebellar_ataxia_19|_607346_(3);dbSNP139.ID=rs12033257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12033257" target="_blank">rs12033257</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=215;snpeff.Amino_Acid_Change=c.*215T>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000315987;SAVANT_GENE=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;SAVANT_INFO=-/213.3kb/8/2.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*215T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCND3+c.*215T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112318484">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,1057:79	0|1:18,9:27:99:229,0,577:79	0|0:28,0:28:84:0,84,1079:79
1	112321032	.	T	A	13470.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Spinocerebellar_ataxia_19|_607346_(3);dbSNP139.ID=rs640029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=640029" target="_blank">rs640029</a>;ExAC.Info.AC=22882;ExAC.Info.AN=126698;ExAC.Info.AF=0.181;ExAC.Info.AC_Het=18107;ExAC.Info.AC_Hom=2371;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1518+26A>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1519T>A;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1519T>A;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1519T>A;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1519T>A;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1519T>A;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1519T>A;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000315987;SAVANT_GENE=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;SAVANT_INFO=-/213.3kb/8/2.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1518+26A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCND3+c.1518+26A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112321032">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2734,249,0:127	1|0:39,37:76:99:1137,0,1083:127	1|0:42,33:75:99:957,0,1304:127
1	112329551	.	G	T	4091.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=512;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Spinocerebellar_ataxia_19|_607346_(3);dbSNP139.ID=rs3738298;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738298" target="_blank">rs3738298</a>;ExAC.Info.AC=21018;ExAC.Info.AN=126704;ExAC.Info.AF=0.166;ExAC.Info.AC_Het=17286;ExAC.Info.AC_Hom=1861;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1269+15C>A;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270G>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270G>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270G>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270G>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270G>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270G>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000315987;SAVANT_GENE=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;SAVANT_INFO=-/213.3kb/8/2.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1269+15C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCND3+c.1269+15C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112329551">View</a>	GT:AD:DP:GQ:PL:TP	0|0:154,0:154:99:0,463,5734:127	0|0:198,0:198:99:0,595,7384:127	0|1:90,70:160:99:2065,0,2676:127
1	112525085	.	G	A	6278.76	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=555;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Spinocerebellar_ataxia_19|_607346_(3);dbSNP139.ID=rs17221819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17221819" target="_blank">rs17221819</a>;ExAC.Info.AC=11149;ExAC.Info.AN=126698;ExAC.Info.AF=0.088;ExAC.Info.AC_Het=9860;ExAC.Info.AC_Hom=644;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000117317;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.264G>A;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.264G>A;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro88Pro/c.264C>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315987;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000315987;SAVANT_GENE=KCND3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND3" target="_blank">KCND3</a>;SAVANT_INFO=-/213.3kb/8/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.264C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCND3+c.264C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112525085">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000117317" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:163,0:163:99:0,489,5610:127	0|1:131,111:242:99:3158,0,4029:127	0|0:150,0:150:99:0,454,5740:127
1	112533649	.	C	G	1016.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs74527086;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74527086" target="_blank">rs74527086</a>;ExAC.Info.AC=157;ExAC.Info.AN=16542;ExAC.Info.AF=9.491e-03;ExAC.Info.AC_Het=140;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.492C>G;snpeff.Gene_Name=RP11-88H9.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-88H92" target="_blank">RP11-88H92</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438293;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-88H92" target="_blank">RP11-88H92</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-88H92+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112533649">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1297:101	0|0:44,0:44:99:0,132,1697:101	0|1:17,18:35:99:527,0,544:101
1	112533728	.	G	A	1576.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs59747755;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59747755" target="_blank">rs59747755</a>;ExAC.Info.AC=1375;ExAC.Info.AN=17806;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=1076;ExAC.Info.AC_Hom=77;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.571G>A;snpeff.Gene_Name=RP11-88H9.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-88H92" target="_blank">RP11-88H92</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438293;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-88H92" target="_blank">RP11-88H92</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-88H92+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112533728">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2470:127	0|0:70,0:70:99:0,211,2798:127	0|1:30,27:57:99:807,0,860:127
1	112533746	.	C	T	1964.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61746626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61746626" target="_blank">rs61746626</a>;ExAC.Info.AC=1038;ExAC.Info.AN=18370;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=854;ExAC.Info.AC_Hom=33;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.589C>T;snpeff.Gene_Name=RP11-88H9.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-88H92" target="_blank">RP11-88H92</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438293;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-88H92" target="_blank">RP11-88H92</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-88H92+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112533746">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2808:127	0|1:44,36:80:99:1001,0,1243:127	0|0:68,0:68:99:0,204,2658:127
1	112958898	.	GA	G	13.92	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=162;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs370406156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=370406156" target="_blank">rs370406156</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.99+13delA;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271277;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271277;SAVANT_GENE=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;SAVANT_INFO=+/65.0kb/6/5.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.99+23delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTTNBP2NL+c.99+23delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112958898">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,3:35:44:0,44,836:29	0|1:62,9:71:30:30,0,1446:29	0|0:55,1:56:99:0,140,1504:29
1	112991698	.	T	C	12139.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2256883;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2256883" target="_blank">rs2256883</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=75726;ExAC.Info.AN=126702;ExAC.Info.AF=0.598;ExAC.Info.AC_Het=29208;ExAC.Info.AC_Hom=23233;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn78Asn/c.234T>C;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271277;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271277;SAVANT_GENE=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;SAVANT_INFO=+/65.0kb/6/5.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.234T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTTNBP2NL+c.234T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112991698">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,43:102:99:1351,0,1502:127	0/1:81,57:138:99:1664,0,2263:127	0/1:37,71:108:99:2185,0,961:127
1	112991862	.	G	T	4862.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3818729;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818729" target="_blank">rs3818729</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.330+68G>T;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271277;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.331G>T;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271277;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.331G>T;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271277;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.331G>T;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271277;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271277;SAVANT_GENE=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;SAVANT_INFO=+/65.0kb/6/5.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.330+68G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTTNBP2NL+c.330+68G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112991862">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,21:46:99:616,0,754:127	0/1:24,29:53:99:861,0,780:127	0/1:21,20:41:99:544,0,648:127
1	112998539	.	C	CT	1191.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs201085546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201085546" target="_blank">rs201085546</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.439-13_439-12insT;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271277;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439_440insT;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271277;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439_440insT;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271277;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439_440insT;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271277;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271277;SAVANT_GENE=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;SAVANT_INFO=+/65.0kb/6/5.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.439-5dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTTNBP2NL+c.439-5dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112998539">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1601:127	0|1:37,29:66:99:619,0,820:127	0|0:65,0:65:99:0,195,1831:127
1	112999227	.	G	A	21150.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1175641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1175641" target="_blank">rs1175641</a>;ExAC.Info.AC=112954;ExAC.Info.AN=126704;ExAC.Info.AF=0.891;ExAC.Info.AC_Het=11869;ExAC.Info.AC_Hom=50525;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln371Gln/c.1113G>A;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271277;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271277;SAVANT_GENE=CTTNBP2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTTNBP2NL" target="_blank">CTTNBP2NL</a>;SAVANT_INFO=+/65.0kb/6/5.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1113G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTTNBP2NL+c.1113G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:112999227">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2470,204,0:127	1|1:0,104:104:99:3695,312,0:127	1|1:0,66:66:99:2310,198,0:127
1	113063125	.	A	G	4466.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs910697;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=910697" target="_blank">rs910697</a>;ExAC.Info.AC=59625;ExAC.Info.AN=126698;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=30789;ExAC.Info.AC_Hom=14024;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln390Gln/c.1170A>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=WNT2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WNT2B" target="_blank">WNT2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369684;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369684;SAVANT_GENE=WNT2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WNT2B" target="_blank">WNT2B</a>;SAVANT_INFO=+/13.9kb/5/3.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1170A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WNT2B+c.1170A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113063125">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,21:51:99:573,0,797:127	1|0:54,40:94:99:1150,0,1497:127	0|0:49,0:49:99:0,147,1615:127
1	113068577	.	C	T	6368.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35147679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35147679" target="_blank">rs35147679</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=WNT2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WNT2B" target="_blank">WNT2B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=58;snpeff.Amino_Acid_Change=c.*58G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=ST7L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WNT2B" target="_blank">WNT2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358039;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358039;SAVANT_GENE=ST7L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST7L" target="_blank">ST7L</a>;SAVANT_INFO=-/95.9kb/15/4.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*58G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST7L+c.*58G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113068577">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,41:99:99:941,0,1769:127	1|0:45,52:97:99:1589,0,1335:127	0|0:96,0:96:99:0,288,3226:127
1	113083439	.	C	T	3909.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10745330;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10745330" target="_blank">rs10745330</a>;ExAC.Info.AC=7716;ExAC.Info.AN=18806;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=3720;ExAC.Info.AC_Hom=1607;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1629+1134G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=ST7L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST7L" target="_blank">ST7L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358039;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358039;SAVANT_GENE=ST7L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST7L" target="_blank">ST7L</a>;SAVANT_INFO=-/95.9kb/15/4.5kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1629+1134G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST7L+c.1629+1134G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113083439">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,36:62:99:922,0,773:127	1|0:30,33:63:99:933,0,855:127	0|0:65,0:65:99:0,195,2124:127
1	113140583	.	T	C	4848.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12049572;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12049572" target="_blank">rs12049572</a>;ExAC.Info.AC=30760;ExAC.Info.AN=126688;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=21999;ExAC.Info.AC_Hom=4354;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.622+10A>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=ST7L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST7L" target="_blank">ST7L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358039;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358039;SAVANT_GENE=ST7L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST7L" target="_blank">ST7L</a>;SAVANT_INFO=-/95.9kb/15/4.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.622+10A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST7L+c.622+10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113140583">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,40:75:99:1199,0,998:127	1|0:52,38:90:99:1134,0,1608:127	0|0:92,0:92:99:0,276,3070:127
1	113202417	.	G	A	8048.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2932536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2932536" target="_blank">rs2932536</a>;ExAC.Info.AC=63842;ExAC.Info.AN=126674;ExAC.Info.AF=0.504;ExAC.Info.AC_Het=30164;ExAC.Info.AC_Hom=15780;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.585+16G>A;snpeff.Amino_Acid_length=286;snpeff.Gene_Name=CAPZA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPZA1" target="_blank">CAPZA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263168;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263168;SAVANT_GENE=CAPZA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPZA1" target="_blank">CAPZA1</a>;SAVANT_INFO=+/52.4kb/10/3.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.585+16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPZA1+c.585+16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113202417">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,29:59:99:697,0,833:127	0|1:41,38:79:99:978,0,1168:127	1|1:0,60:60:99:1900,180,0:127
1	113234456	.	G	A	9920.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2932532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2932532" target="_blank">rs2932532</a>;ExAC.Info.AC=64201;ExAC.Info.AN=126668;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=30447;ExAC.Info.AC_Hom=16540;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.971+35G>A;snpeff.Amino_Acid_length=1003;snpeff.Gene_Name=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000413052;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413052;SAVANT_GENE=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;SAVANT_INFO=+/26.3kb/21/3.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.971+35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOV10+c.971+35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113234456">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,37:85:99:912,0,1273:127	0|1:54,35:89:99:903,0,1674:127	1|1:0,81:81:99:2715,243,0:127
1	113236681	.	C	T	5058.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3748656;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748656" target="_blank">rs3748656</a>;ExAC.Info.AC=33823;ExAC.Info.AN=126704;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=23299;ExAC.Info.AC_Hom=5247;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.287-209G>A;snpeff.Gene_Name=RP11-426L16.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L163" target="_blank">RP11-426L163</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421943;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly394Gly/c.1182C>T;snpeff.Amino_Acid_length=1003;snpeff.Gene_Name=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L163" target="_blank">RP11-426L163</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000413052;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413052;SAVANT_GENE=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;SAVANT_INFO=+/26.3kb/21/3.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1182C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOV10+c.1182C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113236681">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,31:74:99:769,0,1296:127	1|0:44,37:81:99:991,0,1166:127	0|0:59,0:59:99:0,177,2312:127
1	113237171	.	A	G	4404.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs883593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=883593" target="_blank">rs883593</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=33819;ExAC.Info.AN=126700;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=23268;ExAC.Info.AC_Hom=5230;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.238T>C;snpeff.Gene_Name=RP11-426L16.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L163" target="_blank">RP11-426L163</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421943;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr464Thr/c.1392A>G;snpeff.Amino_Acid_length=1003;snpeff.Gene_Name=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L163" target="_blank">RP11-426L163</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000413052;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413052;SAVANT_GENE=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;SAVANT_INFO=+/26.3kb/21/3.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1392A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOV10+c.1392A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113237171">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,28:54:99:763,0,712:127	1|0:25,36:61:99:1050,0,774:127	0|0:56,0:56:99:0,168,2076:127
1	113239382	.	G	A	6319.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17030651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17030651" target="_blank">rs17030651</a>;ExAC.Info.AC=30361;ExAC.Info.AN=126438;ExAC.Info.AF=0.240;ExAC.Info.AC_Het=19303;ExAC.Info.AC_Hom=3696;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu704Glu/c.2112G>A;snpeff.Amino_Acid_length=1003;snpeff.Gene_Name=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000413052;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413052;SAVANT_GENE=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;SAVANT_INFO=+/26.3kb/21/3.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2112G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOV10+c.2112G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113239382">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,36:66:99:879,0,961:127	1|0:52,56:108:99:1524,0,1576:127	0|0:96,0:96:99:0,288,3452:127
1	113240577	.	C	A	1739.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72701116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72701116" target="_blank">rs72701116</a>;ExAC.Info.AC=1057;ExAC.Info.AN=126698;ExAC.Info.AF=8.343e-03;ExAC.Info.AC_Het=1042;ExAC.Info.AC_Hom=6;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2199-39C>A;snpeff.Amino_Acid_length=1003;snpeff.Gene_Name=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000413052;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413052;SAVANT_GENE=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;SAVANT_INFO=+/26.3kb/21/3.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2199-39C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOV10+c.2199-39C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113240577">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2276:127	0|0:112,0:112:99:0,337,4176:127	0|1:38,30:68:99:889,0,1218:127
1	113241052	.	T	C	5025.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2306940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306940" target="_blank">rs2306940</a>;ExAC.Info.AC=33885;ExAC.Info.AN=126702;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=23291;ExAC.Info.AC_Hom=5261;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala820Ala/c.2460T>C;snpeff.Amino_Acid_length=1003;snpeff.Gene_Name=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000413052;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413052;SAVANT_GENE=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;SAVANT_INFO=+/26.3kb/21/3.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2460T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOV10+c.2460T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113241052">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,32:62:99:881,0,799:127	1|0:31,36:67:99:1117,0,844:127	0|0:63,0:63:99:0,189,2221:127
1	113242488	.	C	T	16692.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=372;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3013431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3013431" target="_blank">rs3013431</a>;ExAC.Info.AC=71464;ExAC.Info.AN=126696;ExAC.Info.AF=0.564;ExAC.Info.AC_Het=30028;ExAC.Info.AC_Hom=20700;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2710-28C>T;snpeff.Amino_Acid_length=1003;snpeff.Gene_Name=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000413052;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413052;SAVANT_GENE=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;SAVANT_INFO=+/26.3kb/21/3.6kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2710-28C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOV10+c.2710-28C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113242488">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,51:112:99:1377,0,1760:127	0|1:71,77:148:99:2314,0,2067:127	1|1:0,112:112:99:3789,337,0:127
1	113242978	.	G	T	4963.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72701120;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72701120" target="_blank">rs72701120</a>;ExAC.Info.AC=21;ExAC.Info.AN=126702;ExAC.Info.AF=1.657e-04;ExAC.Info.AC_Het=21;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2920+16G>T;snpeff.Amino_Acid_length=1003;snpeff.Gene_Name=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000413052;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413052;SAVANT_GENE=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;SAVANT_INFO=+/26.3kb/21/3.6kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2920+16G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOV10+c.2920+16G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113242978">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,22:67:99:495,0,1359:127	1|0:58,39:97:99:999,0,1732:127	0|0:67,0:67:99:0,201,2449:127
1	113243048	.	C	T	5410.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6679" target="_blank">rs6679</a>;ExAC.Info.AC=33750;ExAC.Info.AN=126698;ExAC.Info.AF=0.266;ExAC.Info.AC_Het=23221;ExAC.Info.AC_Hom=5228;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser977Ser/c.2931C>T;snpeff.Amino_Acid_length=1003;snpeff.Gene_Name=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000413052;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000413052;SAVANT_GENE=MOV10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOV10" target="_blank">MOV10</a>;SAVANT_INFO=+/26.3kb/21/3.6kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2931C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOV10+c.2931C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113243048">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,27:77:99:629,0,1586:127	1|0:51,44:95:99:1291,0,1542:127	0|0:75,0:75:99:0,225,2712:127
1	113244401	.	CA	C	1801.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs146521106;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146521106" target="_blank">rs146521106</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.366-85delT;snpeff.Amino_Acid_length=199;snpeff.Gene_Name=RHOC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHOC" target="_blank">RHOC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369636;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000285735;SAVANT_GENE=RHOC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHOC" target="_blank">RHOC</a>;SAVANT_INFO=-/6.0kb/6/2.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.409-67delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHOC+c.409-67delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113244401">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1690:125	0|1:38,28:66:99:924,0,1334:125	0|0:47,0:47:99:0,141,1892:125
1	113252851	.	CTTG	C	4660.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs138165734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138165734" target="_blank">rs138165734</a>;ExAC.Info.AC=1670;ExAC.Info.AN=126698;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1609;ExAC.Info.AC_Hom=23;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.413+228_413+230delCAA;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=RP11-426L16.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L1610" target="_blank">RP11-426L1610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000606505;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=sequence_feature[domain:PP2C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1449_1451delTTG;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PPM1J;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L1610" target="_blank">RP11-426L1610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309276;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PP2C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1449_1451delTTG;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PPM1J;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L1610" target="_blank">RP11-426L1610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309276;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PP2C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1449_1451delTTG;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PPM1J;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L1610" target="_blank">RP11-426L1610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309276;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PP2C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1449_1451delTTG;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PPM1J;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L1610" target="_blank">RP11-426L1610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309276;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PP2C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1449_1451delTTG;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PPM1J;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L1610" target="_blank">RP11-426L1610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309276;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PP2C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1449_1451delTTG;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PPM1J;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L1610" target="_blank">RP11-426L1610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309276;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PP2C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1449_1451delTTG;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PPM1J;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L1610" target="_blank">RP11-426L1610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309276;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PP2C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1449_1451delTTG;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PPM1J;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L1610" target="_blank">RP11-426L1610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309276;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PP2C-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1449_1451delTTG;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PPM1J;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L1610" target="_blank">RP11-426L1610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309276;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=disruptive_inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=aacaag/aag;snpeff.Amino_Acid_Change=p.Asn483_Lys484del/c.1449_1451delCAA;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PPM1J;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-426L1610" target="_blank">RP11-426L1610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309276;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000309276;SAVANT_GENE=PPM1J;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPM1J" target="_blank">PPM1J</a>;SAVANT_INFO=-/5.5kb/10/1.9kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1449_1451delCAA_p.Asn483del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPM1J+c.1449_1451delCAA+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113252851">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,25:55:99:959,0,1184:127	1|0:31,23:54:99:873,0,1230:127	0|0:43,0:43:99:0,129,1934:127
1	113456546	.	A	T	10506.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=474;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Erythrocyte_lactate_transporter_defect|_245340_(3)|_Hyperinsulinemic_hypoglycemia|_familial|_7|_610021_(3)|Erythrocyte_lactate_transporter_defect|_245340_(3)|_Hyperinsulinemic_hypoglycemia|_familial|_7|_610021_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1049434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1049434" target="_blank">rs1049434</a>;ExAC.Info.AC=75663;ExAC.Info.AN=126704;ExAC.Info.AF=0.597;ExAC.Info.AC_Het=29253;ExAC.Info.AC_Hom=23205;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000118353;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaA;snpeff.Amino_Acid_Change=p.Asp490Glu/c.1470T>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=SLC16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A1" target="_blank">SLC16A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538576;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000538576;SAVANT_GENE=SLC16A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A1" target="_blank">SLC16A1</a>;SAVANT_INFO=-/44.2kb/5/4.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1470T>A_p.Asp490Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC16A1+c.1470T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113456546">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118353" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:124,0:124:99:0,373,4507:127	0|1:103,79:182:99:2446,0,3285:127	0|1:81,87:168:99:2827,0,2429:127
1	113642815	.	G	C	1951.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Urofacial_syndrome_2|_615112_(3);dbSNP139.ID=rs41283100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41283100" target="_blank">rs41283100</a>;ExAC.Info.AC=5466;ExAC.Info.AN=126618;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=5026;ExAC.Info.AC_Hom=184;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1173-18G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173G>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361127;SAVANT_GENE=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;SAVANT_INFO=+/52.0kb/18/4.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1173-18G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRIG2+c.1173-18G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113642815">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1618:127	0|1:29,31:60:99:995,0,901:127	0|0:53,0:53:99:0,159,1925:127
1	113657092	.	A	C	34127.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=416;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Urofacial_syndrome_2|_615112_(3);dbSNP139.ID=rs1216793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1216793" target="_blank">rs1216793</a>;ExAC.Info.AC=122075;ExAC.Info.AN=126690;ExAC.Info.AF=0.964;ExAC.Info.AC_Het=3863;ExAC.Info.AC_Hom=59030;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acC;snpeff.Amino_Acid_Change=p.Thr708Thr/c.2124A>C;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361127;SAVANT_GENE=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;SAVANT_INFO=+/52.0kb/18/4.5kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2124A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRIG2+c.2124A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113657092">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:4592,393,0:127	1|1:0,157:157:99:5633,472,0:127	1|1:0,128:128:99:4510,384,0:127
1	113658887	.	G	A	5702.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Urofacial_syndrome_2|_615112_(3);dbSNP139.ID=rs1216791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1216791" target="_blank">rs1216791</a>;ExAC.Info.AC=106308;ExAC.Info.AN=126670;ExAC.Info.AF=0.839;ExAC.Info.AC_Het=16051;ExAC.Info.AC_Hom=44681;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2531-22G>A;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2531G>A;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2531G>A;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2531G>A;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2531G>A;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361127;SAVANT_GENE=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;SAVANT_INFO=+/52.0kb/18/4.5kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2531-22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRIG2+c.2531-22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113658887">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,15:30:99:404,0,512:127	1|1:0,44:44:99:1668,132,0:127	0|1:21,21:42:99:576,0,683:127
1	113659065	.	ACT	A	22491.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=346;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Urofacial_syndrome_2|_615112_(3);dbSNP139.ID=rs10541977;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10541977" target="_blank">rs10541977</a>;ExAC.Info.AC=106327;ExAC.Info.AN=126682;ExAC.Info.AF=0.839;ExAC.Info.AC_Het=16136;ExAC.Info.AC_Hom=44931;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2680+8_2680+9delCT;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2681_2682delCT;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2681_2682delCT;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2681_2682delCT;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2681_2682delCT;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2681_2682delCT;snpeff.Amino_Acid_length=1065;snpeff.Gene_Name=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361127;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361127;SAVANT_GENE=LRIG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIG2" target="_blank">LRIG2</a>;SAVANT_INFO=+/52.0kb/18/4.5kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2680+10_2680+11delCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRIG2+c.2680+10_2680+11delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:113659065">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,52:106:99:2014,0,2109:127	1|1:0,139:139:99:6219,419,0:127	0|1:57,44:101:99:1672,0,2220:127
1	114161116	.	C	A	152.12	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=19;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1217200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1217200" target="_blank">rs1217200</a>;ExAC.Info.AC=10970;ExAC.Info.AN=14916;ExAC.Info.AF=0.735;ExAC.Info.AC_Het=2364;ExAC.Info.AC_Hom=3963;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1077-1242C>A;snpeff.Amino_Acid_length=1481;snpeff.Gene_Name=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307546;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307546;SAVANT_GENE=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;SAVANT_INFO=+/295.0kb/21/6.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1077-1242C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAGI3+c.1077-1242C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114161116">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,1:6:21:21,0,121:19	0|0:8,0:8:24:0,24,237:19	1|0:2,3:5:34:73,0,34:19
1	114191932	.	A	C	5298.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=516;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72689978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72689978" target="_blank">rs72689978</a>;ExAC.Info.AC=1;ExAC.Info.AN=126702;ExAC.Info.AF=7.893e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_BAI1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2229A>C;snpeff.Amino_Acid_length=1481;snpeff.Gene_Name=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307546;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_BAI1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2229A>C;snpeff.Amino_Acid_length=1481;snpeff.Gene_Name=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307546;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2229A>C;snpeff.Amino_Acid_length=1481;snpeff.Gene_Name=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307546;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2229A>C;snpeff.Amino_Acid_length=1481;snpeff.Gene_Name=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307546;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly743Gly/c.2229A>C;snpeff.Amino_Acid_length=1481;snpeff.Gene_Name=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307546;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307546;SAVANT_GENE=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;SAVANT_INFO=+/295.0kb/21/6.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2229A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAGI3+c.2229A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114191932">View</a>	GT:AD:DP:GQ:PL:TP	0|0:161,0:161:99:0,484,5096:127	0|1:106,99:205:99:2668,0,2878:127	0|0:150,0:150:99:0,450,5004:127
1	114196495	.	A	G	4783.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2359173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2359173" target="_blank">rs2359173</a>;ExAC.Info.AC=33157;ExAC.Info.AN=126692;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=23254;ExAC.Info.AC_Hom=4943;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr828Thr/c.2484A>G;snpeff.Amino_Acid_length=1481;snpeff.Gene_Name=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307546;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307546;SAVANT_GENE=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;SAVANT_INFO=+/295.0kb/21/6.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2484A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAGI3+c.2484A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114196495">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,22:58:99:609,0,979:127	0|0:94,0:94:99:0,282,3185:127	1|0:43,38:81:99:1063,0,1274:127
1	114224782	.	AT	A	1626.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=180;MQ=69.91;MQ0=0;culprit=DP;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3329-736delT;snpeff.Amino_Acid_length=1481;snpeff.Gene_Name=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307546;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000307546;SAVANT_GENE=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;SAVANT_INFO=+/295.0kb/21/6.4kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.3329-721delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAGI3+c.3329-721delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114224782">View</a>	GT:AD:DP:GQ:PL	./0:20,15:57:99:273,151,898	0/1:42,26:71:99:277,0,1118	./0:27,10:52:99:155,126,1045
1	114224782	.	AT	ATT	1626.29	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=180;MQ=69.91;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3329-735_3329-734insT;snpeff.Amino_Acid_length=1481;snpeff.Gene_Name=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307546;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000307546;SAVANT_GENE=MAGI3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGI3" target="_blank">MAGI3</a>;SAVANT_INFO=+/295.0kb/21/6.4kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.3329-721dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAGI3+c.3329-721dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114224782">View</a>	GT:AD:DP:GQ:PL	0/1:20,22:57:99:273,0,454	./0:42,3:71:99:277,412,1443	0/1:27,15:52:99:155,0,591
1	114240319	.	T	TA	9898.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3835263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3835263" target="_blank">rs3835263</a>;ExAC.Info.AC=89447;ExAC.Info.AN=126694;ExAC.Info.AF=0.706;ExAC.Info.AC_Het=23845;ExAC.Info.AC_Hom=32696;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=7;snpeff.Amino_Acid_Change=c.*7_*8insT;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHTF1" target="_blank">PHTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393357;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369604;SAVANT_GENE=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHTF1" target="_blank">PHTF1</a>;SAVANT_INFO=-/62.3kb/19/3.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*7dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHTF1+c.*7dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114240319">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,59:127:99:1794,0,2118:127	0|0:155,0:155:99:0,467,5648:127	1|0:73,57:130:99:1739,0,2302:127
1	114242250	.	C	T	2439.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3752953;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3752953" target="_blank">rs3752953</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4G>A;snpeff.Gene_Name=RP4-730K3.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-730K33" target="_blank">RP4-730K33</a>;snpeff.Transcript_BioType=transcribed_processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413412;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2142+76G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-730K33" target="_blank">RP4-730K33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393357;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369604;SAVANT_GENE=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHTF1" target="_blank">PHTF1</a>;SAVANT_INFO=-/62.3kb/19/3.3kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2142+76G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHTF1+c.2142+76G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114242250">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,19:35:99:540,0,484:127	0|0:63,0:63:99:0,189,2143:127	1|0:18,16:34:99:454,0,500:127
1	114249382	.	C	T	5658.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6698586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6698586" target="_blank">rs6698586</a>;ExAC.Info.AC=89084;ExAC.Info.AN=126452;ExAC.Info.AF=0.704;ExAC.Info.AC_Het=23023;ExAC.Info.AC_Hom=30666;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1270-38G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHTF1" target="_blank">PHTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393357;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369604;SAVANT_GENE=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHTF1" target="_blank">PHTF1</a>;SAVANT_INFO=-/62.3kb/19/3.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1270-38G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHTF1+c.1270-38G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114249382">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,26:62:99:766,0,1132:127	0|0:88,0:88:99:0,265,3499:127	1|0:47,42:89:99:1344,0,1569:127
1	114267347	.	C	T	6413.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1230640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1230640" target="_blank">rs1230640</a>;ExAC.Info.AC=90469;ExAC.Info.AN=126644;ExAC.Info.AF=0.714;ExAC.Info.AC_Het=23216;ExAC.Info.AC_Hom=33092;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.623+34G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHTF1" target="_blank">PHTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393357;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369604;SAVANT_GENE=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHTF1" target="_blank">PHTF1</a>;SAVANT_INFO=-/62.3kb/19/3.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.623+34G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHTF1+c.623+34G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114267347">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,31:86:99:827,0,1723:127	0|0:126,0:126:99:0,379,4637:127	1|0:44,54:98:99:1539,0,1352:127
1	114268547	.	G	T	25.12	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=15;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.488+493C>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHTF1" target="_blank">PHTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393357;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369604;SAVANT_GENE=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHTF1" target="_blank">PHTF1</a>;SAVANT_INFO=-/62.3kb/19/3.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.488+493C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHTF1+c.488+493C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114268547">View</a>	GT:AD:DP:GQ:PL:TP	0|0:4,0:4:12:0,12,128:10	0|1:4,2:6:31:31,0,137:10	0|0:5,0:5:15:0,15,204:10
1	114301335	.	C	T	3068.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=406;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61817589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61817589" target="_blank">rs61817589</a>;ExAC.Info.AC=31119;ExAC.Info.AN=126698;ExAC.Info.AF=0.246;ExAC.Info.AC_Het=21241;ExAC.Info.AC_Hom=4800;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.-10G>A;snpeff.Amino_Acid_length=762;snpeff.Gene_Name=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHTF1" target="_blank">PHTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393357;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369604;SAVANT_GENE=PHTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHTF1" target="_blank">PHTF1</a>;SAVANT_INFO=-/62.3kb/19/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-10G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHTF1+c.-10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114301335">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,366,4237:127	0|0:153,0:153:99:0,459,5109:127	0|1:73,58:131:99:1553,0,1973:127
1	114372332	.	TA	T	3390.67	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs57877024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57877024" target="_blank">rs57877024</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2135-4delT;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=PTPN22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN22" target="_blank">PTPN22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359785;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2135delT;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=PTPN22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN22" target="_blank">PTPN22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359785;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000359785;SAVANT_GENE=PTPN22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN22" target="_blank">PTPN22</a>;SAVANT_INFO=-/58.0kb/21/3.7kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2135-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN22+c.2135-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114372332">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,50:78:99:990,0,518:5	0|0:67,9:76:4:0,4,1528:5	1|0:33,34:67:99:666,0,651:5
1	114377093	.	A	G	8533.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1599971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1599971" target="_blank">rs1599971</a>;ExAC.Info.AC=90544;ExAC.Info.AN=126686;ExAC.Info.AF=0.715;ExAC.Info.AC_Het=23475;ExAC.Info.AC_Hom=33436;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1895-32T>C;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=PTPN22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN22" target="_blank">PTPN22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359785;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359785;SAVANT_GENE=PTPN22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN22" target="_blank">PTPN22</a>;SAVANT_INFO=-/58.0kb/21/3.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1895-32T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN22+c.1895-32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114377093">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,62:129:99:1966,0,2105:127	0|0:145,0:145:99:0,436,5476:127	1|0:69,66:135:99:2184,0,2285:127
1	114377568	.	A	G	26844.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2476601;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2476601" target="_blank">rs2476601</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Rheumatoid_arthritis|_association_with;hgmd_2014.2.OMIM_ID=600716;hgmd_2014.2.PubMed=15208781;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15208781" target="_blank">15208781</a>;ExAC.Info.AC=118128;ExAC.Info.AN=126704;ExAC.Info.AF=0.932;ExAC.Info.AC_Het=7681;ExAC.Info.AC_Hom=55220;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp620Arg/c.1858T>C;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=PTPN22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN22" target="_blank">PTPN22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359785;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359785;SAVANT_GENE=PTPN22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN22" target="_blank">PTPN22</a>;SAVANT_INFO=-/58.0kb/21/3.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1858T>C_p.Trp620Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN22+c.1858T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114377568">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,130:131:99:4144,356,0:127	1|1:0,173:173:99:5741,519,0:127	1|0:61,65:126:99:1642,0,1626:127
1	114401231	.	A	G	4083.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1217418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1217418" target="_blank">rs1217418</a>;ExAC.Info.AC=56988;ExAC.Info.AN=118324;ExAC.Info.AF=0.482;ExAC.Info.AC_Het=10756;ExAC.Info.AC_Hom=7423;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.274-36T>C;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=PTPN22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN22" target="_blank">PTPN22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359785;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.246+593A>G;snpeff.Gene_Name=AP4B1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN22" target="_blank">PTPN22</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000419536;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359785;SAVANT_GENE=PTPN22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN22" target="_blank">PTPN22</a>;SAVANT_INFO=-/58.0kb/21/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.274-36T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN22+c.274-36T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114401231">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,22:49:99:697,0,843:127	0|0:77,0:77:99:0,232,2864:127	1|0:41,34:75:99:1044,0,1222:127
1	114424601	.	C	T	12011.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1217381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1217381" target="_blank">rs1217381</a>;ExAC.Info.AC=126684;ExAC.Info.AN=126698;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=13;ExAC.Info.AC_Hom=63240;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.247-15889C>T;snpeff.Gene_Name=AP4B1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP4B1-AS1" target="_blank">AP4B1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000419536;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp90Asn/c.268G>A;snpeff.Amino_Acid_length=163;snpeff.Gene_Name=BCL2L15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP4B1-AS1" target="_blank">AP4B1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393316;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000393316;SAVANT_GENE=BCL2L15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL2L15" target="_blank">BCL2L15</a>;SAVANT_INFO=-/6.8kb/4/1.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.268G>A_p.Asp90Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCL2L15+c.268G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114424601">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1393,131,0:127	1|1:0,60:60:99:2071,180,0:127	1|1:0,51:51:99:1731,153,0:127
1	114443035	.	C	G	2364.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3789613;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3789613" target="_blank">rs3789613</a>;ExAC.Info.AC=47605;ExAC.Info.AN=126682;ExAC.Info.AF=0.376;ExAC.Info.AC_Het=26574;ExAC.Info.AC_Hom=10142;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.910C>G;snpeff.Gene_Name=AP4B1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP4B1-AS1" target="_blank">AP4B1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000419536;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.618-13G>C;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=AP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP4B1-AS1" target="_blank">AP4B1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369569;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369569;SAVANT_GENE=AP4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP4B1" target="_blank">AP4B1</a>;SAVANT_INFO=-/10.3kb/10/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.618-13G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP4B1+c.618-13G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114443035">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,1438:116	0|1:17,17:34:99:472,0,566:116	0|1:28,22:50:99:730,0,879:116
1	114448389	.	C	T	6036.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11552449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11552449" target="_blank">rs11552449</a>;ExAC.Info.AC=26733;ExAC.Info.AN=126700;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=18340;ExAC.Info.AC_Hom=4141;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.181C>T;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=DCLRE1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1B" target="_blank">DCLRE1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369563;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Tac;snpeff.Amino_Acid_Change=p.His61Tyr/c.181C>T;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=DCLRE1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1B" target="_blank">DCLRE1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369563;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369563;SAVANT_GENE=DCLRE1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1B" target="_blank">DCLRE1B</a>;SAVANT_INFO=+/8.9kb/4/3.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.181C>T_p.His61Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCLRE1B+c.181C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114448389">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,376,4404:127	0|1:63,62:125:99:1711,0,1945:127	0|1:55,50:105:99:1327,0,1723:127
1	114449662	.	T	C	9900.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=497;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3761936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3761936" target="_blank">rs3761936</a>;ExAC.Info.AC=26855;ExAC.Info.AN=126704;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=18404;ExAC.Info.AC_Hom=4224;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.234T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=DCLRE1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1B" target="_blank">DCLRE1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369563;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His78His/c.234T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=DCLRE1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1B" target="_blank">DCLRE1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369563;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369563;SAVANT_GENE=DCLRE1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1B" target="_blank">DCLRE1B</a>;SAVANT_INFO=+/8.9kb/4/3.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.234T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCLRE1B+c.234T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114449662">View</a>	GT:AD:DP:GQ:PL:TP	0|0:153,0:153:99:0,460,5077:127	0|1:96,82:178:99:2333,0,2800:127	0|1:77,89:166:99:2637,0,2223:127
1	114508685	.	A	G	3980.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=321;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72691850;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72691850" target="_blank">rs72691850</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2239-67A>G;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=HIPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK1" target="_blank">HIPK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426820;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369558;SAVANT_GENE=HIPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK1" target="_blank">HIPK1</a>;SAVANT_INFO=+/48.1kb/16/8.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2239-67A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIPK1+c.2239-67A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114508685">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,346,3638:127	0|1:49,66:115:99:2009,0,1261:127	0|0:91,0:91:99:0,273,3113:127
1	114515717	.	G	A	9139.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2358996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2358996" target="_blank">rs2358996</a>;ExAC.Info.AC=50898;ExAC.Info.AN=124936;ExAC.Info.AF=0.407;ExAC.Info.AC_Het=27924;ExAC.Info.AC_Hom=10046;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3216G>A;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=HIPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK1" target="_blank">HIPK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426820;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3216G>A;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=HIPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK1" target="_blank">HIPK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426820;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3216G>A;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=HIPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK1" target="_blank">HIPK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426820;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3216G>A;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=HIPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK1" target="_blank">HIPK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426820;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala1072Ala/c.3216G>A;snpeff.Amino_Acid_length=1210;snpeff.Gene_Name=HIPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK1" target="_blank">HIPK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426820;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369558;SAVANT_GENE=HIPK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK1" target="_blank">HIPK1</a>;SAVANT_INFO=+/48.1kb/16/8.2kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.3216G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIPK1+c.3216G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114515717">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,34:55:99:959,0,612:122	0|1:37,40:77:99:1068,0,1074:122	1|1:1,52:53:99:1814,122,0:122
1	114522285	.	A	G	5648.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12728679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12728679" target="_blank">rs12728679</a>;ExAC.Info.AC=5266;ExAC.Info.AN=126674;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=4871;ExAC.Info.AC_Hom=157;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.114+33A>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=OLFML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML3" target="_blank">OLFML3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320334;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.115A>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=OLFML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML3" target="_blank">OLFML3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320334;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.115A>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=OLFML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML3" target="_blank">OLFML3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320334;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320334;SAVANT_GENE=OLFML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML3" target="_blank">OLFML3</a>;SAVANT_INFO=+/2.8kb/3/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.114+33A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLFML3+c.114+33A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114522285">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,42:75:99:1283,0,839:127	0|0:69,0:69:99:0,207,2286:127	1|0:23,27:50:99:820,0,636:127
1	114522637	.	C	T	2042.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72691854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72691854" target="_blank">rs72691854</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.115-317C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=OLFML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML3" target="_blank">OLFML3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320334;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.115C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=OLFML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML3" target="_blank">OLFML3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320334;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.115C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=OLFML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML3" target="_blank">OLFML3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320334;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320334;SAVANT_GENE=OLFML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML3" target="_blank">OLFML3</a>;SAVANT_INFO=+/2.8kb/3/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.115-317C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLFML3+c.115-317C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114522637">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2375:127	0|0:97,0:97:99:0,292,3591:127	0|1:44,38:82:99:1040,0,1324:127
1	114680540	.	C	T	20910.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=632;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs17032441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17032441" target="_blank">rs17032441</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=24183;ExAC.Info.AN=126704;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=19380;ExAC.Info.AC_Hom=2400;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser216Ser/c.648G>A;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=SYT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT6" target="_blank">SYT6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000610222;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369547;SAVANT_GENE=SYT6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT6" target="_blank">SYT6</a>;SAVANT_INFO=-/64.6kb/8/4.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.393G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT6+c.393G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114680540">View</a>	GT:AD:DP:GQ:PL:TP	1|0:99,131:230:99:3851,0,2553:127	0|0:228,0:228:99:0,685,8030:127	1|1:0,174:174:99:6060,522,0:127
1	114940632	.	CAA	CA	9459.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1/1;NA12892_GT=1/1;NA12891_GT=1/1;OMIM_phenotypes.name=Thyroid_carcinoma|_papillary|_188550_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3121-22delT;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3121delA;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3121delA;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Bromo];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3121delA;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Bromo];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3121delA;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Bromo];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3121delA;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000358465;SAVANT_GENE=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;SAVANT_INFO=-/118.4kb/20/8.3kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.3121-21delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM33+c.3121-21delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114940632">View</a>	GT:AD:DP:GQ:PL	1/1:1,55:57:99:1489,144,0	1/1:1,59:68:23:1657,176,0	1/1:1,46:52:26:1292,149,0
1	114948281	.	A	G	49141.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=622;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Thyroid_carcinoma|_papillary|_188550_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6537825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6537825" target="_blank">rs6537825</a>;ExAC.Info.AC=113033;ExAC.Info.AN=126704;ExAC.Info.AF=0.892;ExAC.Info.AC_Het=10901;ExAC.Info.AC_Hom=51064;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile840Thr/c.2519T>C;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358465;SAVANT_GENE=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;SAVANT_INFO=-/118.4kb/20/8.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2519T>C_p.Ile840Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM33+c.2519T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114948281">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,197:197:99:7283,592,0:127	1|1:0,223:223:99:8295,670,0:127	1|1:0,202:202:99:7242,606,0:127
1	114976224	.	A	C	10822.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thyroid_carcinoma|_papillary|_188550_(3);dbSNP139.ID=rs12132214;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12132214" target="_blank">rs12132214</a>;ExAC.Info.AC=11548;ExAC.Info.AN=126672;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=10039;ExAC.Info.AC_Hom=731;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1040+15T>G;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_oligomerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041A>C;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_oligomerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041A>C;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_oligomerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041A>C;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_oligomerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041A>C;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041A>C;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041A>C;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041A>C;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041A>C;snpeff.Amino_Acid_length=1127;snpeff.Gene_Name=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358465;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358465;SAVANT_GENE=TRIM33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM33" target="_blank">TRIM33</a>;SAVANT_INFO=-/118.4kb/20/8.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1040+15T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM33+c.1040+15T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:114976224">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,80:141:99:2436,0,1703:127	1|0:91,93:184:99:2804,0,2629:127	0|0:147,0:147:99:0,442,5207:127
1	115144703	.	A	G	52245.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=583;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28398" target="_blank">rs28398</a>;ExAC.Info.AC=125918;ExAC.Info.AN=126682;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=745;ExAC.Info.AC_Hom=62461;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1737+43T>C;snpeff.Amino_Acid_length=928;snpeff.Gene_Name=DENND2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2C" target="_blank">DENND2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393274;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000393276;SAVANT_GENE=DENND2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2C" target="_blank">DENND2C</a>;SAVANT_INFO=-/87.3kb/18/5.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1566+43T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND2C+c.1566+43T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115144703">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,181:181:99:6668,543,0:127	1|1:0,244:244:99:8892,733,0:127	1|1:0,158:158:99:5802,474,0:127
1	115166269	.	A	G	2220.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41306201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41306201" target="_blank">rs41306201</a>;ExAC.Info.AC=1236;ExAC.Info.AN=126588;ExAC.Info.AF=9.764e-03;ExAC.Info.AC_Het=1201;ExAC.Info.AC_Hom=10;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.807-5T>C;snpeff.Amino_Acid_length=928;snpeff.Gene_Name=DENND2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2C" target="_blank">DENND2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393274;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.807T>C;snpeff.Amino_Acid_length=928;snpeff.Gene_Name=DENND2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2C" target="_blank">DENND2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393274;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000393276;SAVANT_GENE=DENND2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2C" target="_blank">DENND2C</a>;SAVANT_INFO=-/87.3kb/18/5.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.807-5T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND2C+c.807-5T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115166269">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,256,2983:127	0|0:107,0:107:99:0,322,3990:127	0|1:44,35:79:99:1129,0,1373:127
1	115168097	.	T	C	3706.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12136548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12136548" target="_blank">rs12136548</a>;ExAC.Info.AC=28869;ExAC.Info.AN=126698;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=21298;ExAC.Info.AC_Hom=3760;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp170Gly/c.509A>G;snpeff.Amino_Acid_length=928;snpeff.Gene_Name=DENND2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2C" target="_blank">DENND2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393274;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000393276;SAVANT_GENE=DENND2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2C" target="_blank">DENND2C</a>;SAVANT_INFO=-/87.3kb/18/5.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.509A>G_p.Asp170Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND2C+c.509A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115168097">View</a>	GT:AD:DP:GQ:PL:TP	0|0:121,0:121:99:0,364,4121:127	0|1:62,61:123:99:1872,0,1828:127	0|0:103,0:103:99:0,310,3620:127
1	115168600	.	A	T	7552.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7541738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7541738" target="_blank">rs7541738</a>;ExAC.Info.AC=25297;ExAC.Info.AN=126664;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=19147;ExAC.Info.AC_Hom=3007;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaA;snpeff.Amino_Acid_Change=p.Asp2Glu/c.6T>A;snpeff.Amino_Acid_length=928;snpeff.Gene_Name=DENND2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2C" target="_blank">DENND2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393274;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000393276;SAVANT_GENE=DENND2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND2C" target="_blank">DENND2C</a>;SAVANT_INFO=-/87.3kb/18/5.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.6T>A_p.Asp2Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND2C+c.6T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115168600">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,42:88:99:1143,0,1287:127	1|0:87,63:150:99:1687,0,2421:127	0|0:113,0:113:99:0,340,3987:127
1	115218413	.	G	A	3553.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Myopathy_due_to_myoadenylate_deaminase_deficiency|_615511_(3);dbSNP139.ID=rs2070986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070986" target="_blank">rs2070986</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1614+85C>T;snpeff.Amino_Acid_length=780;snpeff.Gene_Name=AMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD1" target="_blank">AMPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000520113;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000520113;SAVANT_GENE=AMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD1" target="_blank">AMPD1</a>;SAVANT_INFO=-/22.5kb/16/2.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1614+85C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMPD1+c.1614+85C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115218413">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,379,4931:127	0|0:158,0:158:99:0,475,5888:127	0|1:79,67:146:99:1796,0,2339:127
1	115236057	.	G	A	5605.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Myopathy_due_to_myoadenylate_deaminase_deficiency|_615511_(3);dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs17602729;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17602729" target="_blank">rs17602729</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Adenosine_monophosphate_deaminase_deficiency;hgmd_2014.2.OMIM_ID=102770;hgmd_2014.2.PubMed=1631143;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=1631143" target="_blank">1631143</a>;ExAC.Info.AC=11060;ExAC.Info.AN=126694;ExAC.Info.AF=0.087;ExAC.Info.AC_Het=9681;ExAC.Info.AC_Hom=687;Clinvar.ClinicalSignificance=Pathogenic;Clinvar.RCVaccession=RCV000019933|RCV000077971;Clinvar.PhenotypeIDs=MedGen:C0268123|OMIM:615511|Orphanet:ORPHA45|SNOMED_CT:9105005|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.133C>T;snpeff.Amino_Acid_length=780;snpeff.Gene_Name=AMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD1" target="_blank">AMPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000520113;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Caa/Taa;snpeff.Amino_Acid_Change=p.Gln45*/c.133C>T;snpeff.Amino_Acid_length=780;snpeff.Gene_Name=AMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD1" target="_blank">AMPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000520113;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;LOF=(AMPD1|ENSG00000116748|1|1.00);NMD=(AMPD1|ENSG00000116748|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000520113;SAVANT_GENE=AMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD1" target="_blank">AMPD1</a>;SAVANT_INFO=-/22.5kb/16/2.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.133C>T_p.Gln45X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMPD1+c.133C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115236057">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019933%20OR%20RCV000077971" target="_blank">Pathogenic</a> 	GT:AD:DP:GQ:PL:TP	1|0:34,40:74:99:1104,0,925:127	0|0:114,2:116:99:0,299,3878:127	1|0:51,42:93:99:1244,0,1416:127
1	115262124	.	G	A	15245.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=824;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72687876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72687876" target="_blank">rs72687876</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2354+76C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=CSDE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSDE1" target="_blank">CSDE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438362;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438362;SAVANT_GENE=CSDE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSDE1" target="_blank">CSDE1</a>;SAVANT_INFO=-/33.3kb/20/4.2kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2354+76C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSDE1+c.2354+76C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115262124">View</a>	GT:AD:DP:GQ:PL:TP	0|1:112,128:240:99:3318,0,3279:127	1|0:146,146:292:99:3882,0,4582:127	0|0:292,0:292:99:0,877,10433:127
1	115284056	.	G	T	9640.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=497;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7537232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7537232" target="_blank">rs7537232</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.138+92C>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=CSDE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSDE1" target="_blank">CSDE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438362;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438362;SAVANT_GENE=CSDE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSDE1" target="_blank">CSDE1</a>;SAVANT_INFO=-/33.3kb/20/4.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.138+92C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSDE1+c.138+92C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115284056">View</a>	GT:AD:DP:GQ:PL:TP	0|1:73,67:140:99:2054,0,1918:127	1|0:87,70:157:99:2137,0,2345:127	0|0:200,0:200:99:0,601,6912:127
1	115399884	.	C	G	2503.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=167;MQ=69.53;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17544210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17544210" target="_blank">rs17544210</a>;ExAC.Info.AC=6853;ExAC.Info.AN=126690;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=7893;ExAC.Info.AC_Hom=32;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225C>G;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225C>G;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225C>G;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225C>G;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225C>G;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro75Pro/c.225C>G;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369522;SAVANT_GENE=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;SAVANT_INFO=+/140.6kb/32/3.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.225C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYCP1+c.225C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115399884">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,33:60:99:851,0,672:125	1|0:42,23:65:99:520,0,1205:125	0|0:42,0:42:99:0,126,1404:125
1	115417093	.	A	C	2728.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7518392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7518392" target="_blank">rs7518392</a>;ExAC.Info.AC=7890;ExAC.Info.AN=126328;ExAC.Info.AF=0.062;ExAC.Info.AC_Het=7290;ExAC.Info.AC_Hom=276;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.599-34A>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.599A>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.599A>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.599A>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.599A>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.599A>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" 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target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115417093">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,21:44:99:626,0,694:69	1|0:30,23:53:99:706,0,801:69	0|0:23,0:23:69:0,69,847:69
1	115420905	.	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target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.911T>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.911T>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.911T>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.911T>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.911T>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.911T>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.911T>C;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369522;SAVANT_GENE=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;SAVANT_INFO=+/140.6kb/32/3.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.910+82T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYCP1+c.910+82T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115420905">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,21:39:99:602,0,526:127	0|0:49,0:49:99:0,147,1748:127	1|0:22,17:39:99:397,0,627:127
1	115438047	.	A	AT	1183.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs150956388;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150956388" target="_blank">rs150956388</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1259-21_1259-20insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1259_1260insT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369522;SAVANT_GENE=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;SAVANT_INFO=+/140.6kb/32/3.5kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1259-12dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYCP1+c.1259-12dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115438047">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1012:110	0|0:71,1:72:99:0,187,1869:110	0|1:40,30:70:99:615,0,872:110
1	115487468	.	CT	C	15.85	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=99;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2044-24delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Nuclear_localization_signal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Nuclear_localization_signal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044delT;snpeff.Amino_Acid_length=976;snpeff.Gene_Name=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369518;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369522;SAVANT_GENE=SYCP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCP1" target="_blank">SYCP1</a>;SAVANT_INFO=+/140.6kb/32/3.5kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.2044-14delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYCP1+c.2044-14delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115487468">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,1:30:80:0,80,795:31	0|0:32,1:33:72:0,72,866:31	0|1:31,5:36:31:31,0,711:31
1	115576023	.	A	G	66398.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=1095;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hypothryoidism|_congenital|_nongoitrous_4|_275100_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10776792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10776792" target="_blank">rs10776792</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Hypothyroidism;hgmd_2014.2.OMIM_ID=188540;hgmd_2014.2.PubMed=10411113;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10411113" target="_blank">10411113</a>;ExAC.Info.AC=122966;ExAC.Info.AN=126702;ExAC.Info.AF=0.971;ExAC.Info.AC_Het=3571;ExAC.Info.AC_Hom=59657;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.40A>G;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=TSHB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSHB" target="_blank">TSHB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369517;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr14Ala/c.40A>G;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=TSHB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSHB" target="_blank">TSHB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369517;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256592;SAVANT_GENE=TSHB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSHB" target="_blank">TSHB</a>;SAVANT_INFO=+/4.5kb/3/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.40A>G_p.Thr14Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSHB+c.40A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115576023">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,353:353:99:12817,1061,0:127	1|1:0,370:370:99:13747,1112,0:127	1|0:191,181:372:99:5528,0,5374:127
1	115600081	.	G	C	3811.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3820630;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820630" target="_blank">rs3820630</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.516+77C>G;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517G>C;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517G>C;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517G>C;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517G>C;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369516;SAVANT_GENE=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;SAVANT_INFO=-/41.5kb/8/3.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.516+77C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN2+c.516+77C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115600081">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,28:46:99:871,0,464:127	1|0:38,28:66:99:828,0,1075:127	0|0:45,0:45:99:0,135,1534:127
1	115600137	.	A	G	5348.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3738704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738704" target="_blank">rs3738704</a>;ExAC.Info.AC=9058;ExAC.Info.AN=126704;ExAC.Info.AF=0.071;ExAC.Info.AC_Het=8169;ExAC.Info.AC_Hom=443;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.516+21T>C;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517A>G;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517A>G;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517A>G;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517A>G;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369516;SAVANT_GENE=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;SAVANT_INFO=-/41.5kb/8/3.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.516+21T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN2+c.516+21T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115600137">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,33:64:99:1026,0,879:127	1|0:57,48:105:99:1303,0,1613:127	0|0:63,0:63:99:0,189,2185:127
1	115601528	.	C	G	16342.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=706;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3738702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738702" target="_blank">rs3738702</a>;ExAC.Info.AC=8973;ExAC.Info.AN=126704;ExAC.Info.AF=0.071;ExAC.Info.AC_Het=8103;ExAC.Info.AC_Hom=435;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420C>G;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420C>G;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420C>G;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420C>G;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggC;snpeff.Amino_Acid_Change=p.Gly140Gly/c.420G>C;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369516;SAVANT_GENE=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;SAVANT_INFO=-/41.5kb/8/3.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.420G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN2+c.420G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115601528">View</a>	GT:AD:DP:GQ:PL:TP	0|1:89,91:180:99:2753,0,2631:127	1|0:146,134:280:99:3836,0,4116:127	0|0:246,0:246:99:0,739,8525:127
1	115604798	.	C	T	11128.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=227;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10776795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10776795" target="_blank">rs10776795</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=33514;ExAC.Info.AN=126026;ExAC.Info.AF=0.266;ExAC.Info.AC_Het=19695;ExAC.Info.AC_Hom=3611;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly76Gly/c.228G>A;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369516;SAVANT_GENE=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;SAVANT_INFO=-/41.5kb/8/3.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.228G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN2+c.228G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115604798">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2120,213,0:127	1|0:55,40:95:99:1054,0,1650:127	1|0:32,29:61:99:731,0,898:127
1	115631924	.	C	T	6046.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4240540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4240540" target="_blank">rs4240540</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.69+61G>A;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.70C>T;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.70C>T;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369516;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369516;SAVANT_GENE=TSPAN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN2" target="_blank">TSPAN2</a>;SAVANT_INFO=-/41.5kb/8/3.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.69+61G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN2+c.69+61G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115631924">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:831,72,0:71	1|1:0,35:35:99:1261,105,0:71	1|0:10,15:25:99:506,0,265:71
1	115829313	.	G	A	24100.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Neuropathy|_hereditary_sensory_and_autonomic|_type_V|_608654_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6330;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6330" target="_blank">rs6330</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Anxiety-related_traits|_gender-dependent|_association_with;hgmd_2014.2.OMIM_ID=162030;hgmd_2014.2.PubMed=18763222;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=18763222" target="_blank">18763222</a>;ExAC.Info.AC=46466;ExAC.Info.AN=126704;ExAC.Info.AF=0.367;ExAC.Info.AC_Het=27835;ExAC.Info.AC_Hom=9308;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.207+3452G>A;snpeff.Gene_Name=RP4-663N10.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-663N101" target="_blank">RP4-663N101</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.104G>A;snpeff.Amino_Acid_length=241;snpeff.Gene_Name=NGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-663N101" target="_blank">RP4-663N101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369512;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala35Val/c.104C>T;snpeff.Amino_Acid_length=241;snpeff.Gene_Name=NGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-663N101" target="_blank">RP4-663N101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369512;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369512;SAVANT_GENE=NGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NGF" target="_blank">NGF</a>;SAVANT_INFO=-/52.3kb/3/1.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.104C>T_p.Ala35Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NGF+c.104C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115829313">View</a>	GT:AD:DP:GQ:PL:TP	0|1:80,69:149:99:1773,0,2394:127	1|1:0,196:196:99:6608,588,0:127	0|1:72,83:155:99:2438,0,1978:127
1	115837709	.	A	G	39674.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=964;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Neuropathy|_hereditary_sensory_and_autonomic|_type_V|_608654_(3);dbSNP139.ID=rs2239622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2239622" target="_blank">rs2239622</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-136-1338T>C;snpeff.Amino_Acid_length=241;snpeff.Gene_Name=NGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NGF" target="_blank">NGF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369512;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.207+11848A>G;snpeff.Gene_Name=RP4-663N10.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NGF" target="_blank">NGF</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369512;SAVANT_GENE=NGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NGF" target="_blank">NGF</a>;SAVANT_INFO=-/52.3kb/3/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-8293T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NGF+c.-8293T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:115837709">View</a>	GT:AD:DP:GQ:PL:TP	0|1:194,139:333:99:3430,0,5123:127	1|1:0,352:352:99:11701,1057,0:127	0|1:145,134:279:99:3757,0,4360:127
1	116206423	.	G	A	9619.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=405;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Caudal_regression_syndrome|_600145_(3)|_Neural_tube_defects|_182940_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4839469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4839469" target="_blank">rs4839469</a>;ExAC.Info.AC=17935;ExAC.Info.AN=126704;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=14877;ExAC.Info.AC_Hom=1528;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346G>A;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346G>A;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346G>A;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala116Thr/c.346G>A;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355485;SAVANT_GENE=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;SAVANT_INFO=+/56.3kb/8/8.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.346G>A_p.Ala116Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VANGL1+c.346G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116206423">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,70:125:99:1807,0,1523:127	1|0:74,76:150:99:2313,0,2021:127	0|0:130,0:130:99:0,391,4554:127
1	116206951	.	C	G	6092.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Caudal_regression_syndrome|_600145_(3)|_Neural_tube_defects|_182940_(3);dbSNP139.ID=rs12739928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12739928" target="_blank">rs12739928</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.812+62C>G;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.813C>G;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.813C>G;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.813C>G;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.813C>G;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.813C>G;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355485;SAVANT_GENE=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;SAVANT_INFO=+/56.3kb/8/8.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.812+62C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VANGL1+c.812+62C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116206951">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,0:103:99:0,309,3644:127	0|1:80,63:143:99:1627,0,2482:127	0|1:61,51:112:99:1439,0,1659:127
1	116226459	.	C	T	20400.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=442;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Caudal_regression_syndrome|_600145_(3)|_Neural_tube_defects|_182940_(3);dbSNP139.ID=rs12144356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12144356" target="_blank">rs12144356</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.947-106C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355485;SAVANT_GENE=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;SAVANT_INFO=+/56.3kb/8/8.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.947-106C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VANGL1+c.947-106C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116226459">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,67:145:99:1783,0,2329:127	1|1:0,162:162:99:5566,486,0:127	0|1:75,60:135:99:1651,0,2471:127
1	116228220	.	C	T	7504.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=502;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Caudal_regression_syndrome|_600145_(3)|_Neural_tube_defects|_182940_(3);dbSNP139.ID=rs12145661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12145661" target="_blank">rs12145661</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1314+72C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1315C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1315C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1315C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1315C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1315C>T;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369509;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355485;SAVANT_GENE=VANGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL1" target="_blank">VANGL1</a>;SAVANT_INFO=+/56.3kb/8/8.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1314+72C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VANGL1+c.1314+72C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116228220">View</a>	GT:AD:DP:GQ:PL:TP	0|0:168,0:168:99:0,505,5800:127	0|1:109,74:183:99:1976,0,3072:127	0|1:81,70:151:99:1796,0,2286:127
1	116243877	.	G	A	16930.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=819;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_2|_611938_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_Eur|_Am|:_A:35|73%_-_Afr|_Am|:_A:44|78%|A_allele_3073/8600_(35|73%)_Eur_Am|_1973/4406_(44|78%)_Af_Am|_EVS_data_accessed_from_Alamut_2-25-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs7413162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7413162" target="_blank">rs7413162</a>;ExAC.Info.AC=48159;ExAC.Info.AN=125832;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=29565;ExAC.Info.AC_Hom=9241;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1185G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp395Asp/c.1185C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261448;SAVANT_GENE=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;SAVANT_INFO=-/68.8kb/11/2.7kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1185C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASQ2+c.1185C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116243877">View</a>	GT:AD:DP:GQ:PL:TP	0|1:110,121:231:99:3419,0,3091:127	1|0:170,152:322:99:4390,0,5065:127	0|0:266,0:266:99:0,800,9356:127
1	116247790	.	G	A	17594.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_2|_611938_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_Eur|_Am|:_A:31|97%_-_Afr|_Am|:_G:43|96%|A_allele_2749/8600_(31|97%)_Eur_Am|_G_allele_1937/4406_(43|96%)_Af_Am|_EVS_data_accessed_from_Alamut_2-25-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs3811003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811003" target="_blank">rs3811003</a>;ExAC.Info.AC=44164;ExAC.Info.AN=126696;ExAC.Info.AF=0.349;ExAC.Info.AC_Het=27678;ExAC.Info.AC_Hom=8202;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.939+23C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.940G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.940G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261448;SAVANT_GENE=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;SAVANT_INFO=-/68.8kb/11/2.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.939+23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASQ2+c.939+23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116247790">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1901,171,0:127	1|1:0,82:82:99:2891,247,0:127	1|1:0,78:78:99:2685,234,0:127
1	116247826	.	T	C	7519.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_2|_611938_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72703607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72703607" target="_blank">rs72703607</a>;ExAC.Info.AC=2;ExAC.Info.AN=126704;ExAC.Info.AF=1.578e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp309Gly/c.926A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261448;SAVANT_GENE=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;SAVANT_INFO=-/68.8kb/11/2.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.926A>G_p.Asp309Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASQ2+c.926A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116247826">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,52:96:99:1572,0,1010:127	1|0:72,53:125:99:1533,0,2127:127	0|0:107,1:108:99:0,299,3506:127
1	116260532	.	A	T	22741.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_2|_611938_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_Eur|_Am|:_A:44|95%_-_Afr|_Am|:_A:30|55%|A_allele_3866/8600_(44|95%)_Eur_Am|_1346/4406_(30|55%)_Af_Am_alleles|_EVS_data_accessed_from_Alamut_2-25-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs2997741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2997741" target="_blank">rs2997741</a>;ExAC.Info.AC=73414;ExAC.Info.AN=126698;ExAC.Info.AF=0.579;ExAC.Info.AC_Het=30295;ExAC.Info.AC_Hom=21554;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.784-17T>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261448;SAVANT_GENE=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;SAVANT_INFO=-/68.8kb/11/2.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.784-17T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASQ2+c.784-17T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116260532">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3210,289,0:127	1|1:0,106:106:99:3618,319,0:127	1|1:0,89:89:99:3062,267,0:127
1	116260544	.	C	T	6718.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_2|_611938_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_Eur|_Am|:_T:22|74%_-_Afr|_Am|:_T:22|45%|T_allele_1956/8600_(22|74%)_Eur_Am|_989/4406_(22|45%)_Af_Am_alleles|_EVS_data_accessed_from_Alamut_3-4-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs3811001;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811001" target="_blank">rs3811001</a>;ExAC.Info.AC=29798;ExAC.Info.AN=126702;ExAC.Info.AF=0.235;ExAC.Info.AC_Het=22596;ExAC.Info.AC_Hom=3586;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.784-29G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261448;SAVANT_GENE=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;SAVANT_INFO=-/68.8kb/11/2.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.784-29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASQ2+c.784-29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116260544">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,47:85:99:1407,0,1114:127	1|0:47,50:97:99:1451,0,1437:127	0|0:81,0:81:99:0,243,2989:127
1	116268178	.	GAAAA	G	2859.91	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_2|_611938_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.738-8_738-5delTTTT;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738_741delTTTT;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000261448;SAVANT_GENE=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;SAVANT_INFO=-/68.8kb/11/2.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.738-8_738-5delTTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASQ2+c.738-8_738-5delTTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116268178">View</a>	GT:AD:DP:GQ:PL	./1:3,11:22:99:393,129,667	./1:2,18:26:99:563,145,656	./1:5,12:21:7:311,7,592
1	116268178	.	GAAAA	GAA	2859.91	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_2|_611938_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.738-8_738-7delTT;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738_739delTT;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000261448;SAVANT_GENE=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;SAVANT_INFO=-/68.8kb/11/2.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.738-6_738-5delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASQ2+c.738-6_738-5delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116268178">View</a>	GT:AD:DP:GQ:PL	./1:3,8:22:99:393,112,139	./1:2,6:26:99:563,248,219	./1:5,4:21:7:311,89,158
1	116283343	.	A	G	20828.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_2|_611938_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_Eur|_Am|:_A:12|20%_-_Afr|_Am|:_G:37|74%;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs9428083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9428083" target="_blank">rs9428083</a>;ExAC.Info.AC=99719;ExAC.Info.AN=126692;ExAC.Info.AF=0.787;ExAC.Info.AC_Het=18556;ExAC.Info.AC_Hom=40467;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.420+6T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261448;SAVANT_GENE=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;SAVANT_INFO=-/68.8kb/11/2.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.420+6T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASQ2+c.420+6T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116283343">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:3036,252,0:127	1|1:0,103:103:99:3644,309,0:127	1|1:0,63:63:99:2362,189,0:127
1	116310967	.	T	C	29619.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=610;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_2|_611938_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_Eur|_Am|:_C:28|91%_-_Afr|_Am|:_C:43|76%;ExperienceDB.Submitter=Baudhuin;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4074536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4074536" target="_blank">rs4074536</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=QRS_interval|_association_with;hgmd_2014.2.OMIM_ID=114251;hgmd_2014.2.PubMed=21076409;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21076409" target="_blank">21076409</a>;ExAC.Info.AC=41369;ExAC.Info.AN=126702;ExAC.Info.AF=0.327;ExAC.Info.AC_Het=26841;ExAC.Info.AC_Hom=7263;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000037136;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.196T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acg/Gcg;snpeff.Amino_Acid_Change=p.Thr66Ala/c.196A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261448;SAVANT_GENE=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;SAVANT_INFO=-/68.8kb/11/2.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.196A>G_p.Thr66Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASQ2+c.196A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116310967">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000037136" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:100,92:192:99:2430,0,2541:127	1|1:0,240:240:99:8394,721,0:127	0|1:87,91:178:99:2522,0,2530:127
1	116311198	.	T	C	39744.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=531;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_2|_611938_(3);dbSNP139.ID=rs4074537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4074537" target="_blank">rs4074537</a>;ExAC.Info.AC=124252;ExAC.Info.AN=125880;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1107;ExAC.Info.AC_Hom=49389;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=36;snpeff.Amino_Acid_Change=c.-36A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261448;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261448;SAVANT_GENE=CASQ2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ2" target="_blank">CASQ2</a>;SAVANT_INFO=-/68.8kb/11/2.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-36A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASQ2+c.-36A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116311198">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,154:154:99:5022,463,0:127	1|1:0,194:194:99:6279,582,0:127	1|1:0,183:183:99:6147,552,0:127
1	116380912	.	C	A	13.05	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=34;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Tac;snpeff.Amino_Acid_Change=p.Asp28Tyr/c.82G>T;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=NHLH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NHLH2" target="_blank">NHLH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369506;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369506;SAVANT_GENE=NHLH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NHLH2" target="_blank">NHLH2</a>;SAVANT_INFO=-/7.2kb/1/7.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.82G>T_p.Asp28Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NHLH2+c.82G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116380912">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,0:11:33:0,33,387:24	0|0:15,0:15:45:0,45,621:24	0|1:6,2:8:25:25,0,210:24
1	116534852	.	C	T	12809.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4046190;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4046190" target="_blank">rs4046190</a>;ExAC.Info.AC=64457;ExAC.Info.AN=123516;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=18121;ExAC.Info.AC_Hom=12402;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser96Ser/c.288C>T;snpeff.Amino_Acid_length=547;snpeff.Gene_Name=SLC22A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A15" target="_blank">SLC22A15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369503;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369503;SAVANT_GENE=SLC22A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A15" target="_blank">SLC22A15</a>;SAVANT_INFO=+/93.6kb/12/4.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.288C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A15+c.288C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116534852">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1750,165,0:127	1|1:0,62:62:99:2107,186,0:127	1|1:0,51:51:99:1723,153,0:127
1	116569530	.	G	C	7578.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2488429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2488429" target="_blank">rs2488429</a>;ExAC.Info.AC=115910;ExAC.Info.AN=124926;ExAC.Info.AF=0.928;ExAC.Info.AC_Het=8020;ExAC.Info.AC_Hom=53879;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.615G>C;snpeff.Amino_Acid_length=547;snpeff.Gene_Name=SLC22A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A15" target="_blank">SLC22A15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369503;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu205Leu/c.615G>C;snpeff.Amino_Acid_length=547;snpeff.Gene_Name=SLC22A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A15" target="_blank">SLC22A15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369503;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369503;SAVANT_GENE=SLC22A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A15" target="_blank">SLC22A15</a>;SAVANT_INFO=+/93.6kb/12/4.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.615G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A15+c.615G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116569530">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:987,81,0:68	1|1:0,39:39:99:1478,117,0:68	1|1:0,23:23:69:931,69,0:68
1	116609126	.	TC	T	18565.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=213;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3833541;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3833541" target="_blank">rs3833541</a>;ExAC.Info.AC=88136;ExAC.Info.AN=122938;ExAC.Info.AF=0.717;ExAC.Info.AC_Het=14593;ExAC.Info.AC_Hom=22132;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1366-14delC;snpeff.Amino_Acid_length=547;snpeff.Gene_Name=SLC22A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A15" target="_blank">SLC22A15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369503;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369503;SAVANT_GENE=SLC22A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A15" target="_blank">SLC22A15</a>;SAVANT_INFO=+/93.6kb/12/4.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1366-11delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A15+c.1366-11delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116609126">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1788,157,0:127	1|1:0,81:81:99:2782,244,0:127	1|1:0,80:80:99:2722,241,0:127
1	116670774	.	A	G	1254.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10754431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10754431" target="_blank">rs10754431</a>;ExAC.Info.AC=35918;ExAC.Info.AN=126696;ExAC.Info.AF=0.283;ExAC.Info.AC_Het=22402;ExAC.Info.AC_Hom=6728;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly223Gly/c.669A>G;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=MAB21L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAB21L3" target="_blank">MAB21L3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369500;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369500;SAVANT_GENE=MAB21L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAB21L3" target="_blank">MAB21L3</a>;SAVANT_INFO=+/23.5kb/7/3.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.669A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAB21L3+c.669A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116670774">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2223:127	0|0:97,0:97:99:0,291,3090:127	0|1:35,23:58:99:646,0,871:127
1	116940481	.	CT	C	355.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1974-28delT;snpeff.Amino_Acid_length=1023;snpeff.Gene_Name=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537345;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.400+3036delA;snpeff.Gene_Name=ATP1A1OS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608511;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974delT;snpeff.Amino_Acid_length=1023;snpeff.Gene_Name=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537345;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974delT;snpeff.Amino_Acid_length=1023;snpeff.Gene_Name=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537345;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974delT;snpeff.Amino_Acid_length=1023;snpeff.Gene_Name=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537345;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974delT;snpeff.Amino_Acid_length=1023;snpeff.Gene_Name=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537345;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974delT;snpeff.Amino_Acid_length=1023;snpeff.Gene_Name=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537345;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974delT;snpeff.Amino_Acid_length=1023;snpeff.Gene_Name=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537345;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974delT;snpeff.Amino_Acid_length=1023;snpeff.Gene_Name=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537345;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974delT;snpeff.Amino_Acid_length=1023;snpeff.Gene_Name=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537345;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974delT;snpeff.Amino_Acid_length=1023;snpeff.Gene_Name=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537345;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974delT;snpeff.Amino_Acid_length=1023;snpeff.Gene_Name=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537345;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000537345;SAVANT_GENE=ATP1A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1" target="_blank">ATP1A1</a>;SAVANT_INFO=+/30.9kb/23/3.8kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1974-14delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A1+c.1974-14delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:116940481">View</a>	GT:AD:DP:GQ:PL	0/1:8,8:19:78:94,0,285	0/1:23,11:37:96:96,0,868	0/0:14,6:23:11:0,17,751
1	117087235	.	G	GA	1299.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.71-9_71-10insT;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=CD58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD58" target="_blank">CD58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369489;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.71_72insA;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=CD58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD58" target="_blank">CD58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369489;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.71_72insA;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=CD58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD58" target="_blank">CD58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369489;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369489;SAVANT_GENE=CD58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD58" target="_blank">CD58</a>;SAVANT_INFO=-/56.5kb/6/1.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.71-10dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD58+c.71-10dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117087235">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1017:107	0|1:12,28:40:99:673,0,218:107	0|0:48,0:48:99:0,144,1351:107
1	117122285	.	G	GTCC	5774.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=265;MQ=71.17;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=36369;ExAC.Info.AN=126380;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=23867;ExAC.Info.AC_Hom=1836;snpeff.Effect=disruptive_inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gac/gaGGAc;snpeff.Amino_Acid_Change=p.Asp1041_Asp1042insGluAsp/c.3122_3123insGGA;snpeff.Amino_Acid_length=1214;snpeff.Gene_Name=IGSF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF3" target="_blank">IGSF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369483;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369483;SAVANT_GENE=IGSF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF3" target="_blank">IGSF3</a>;SAVANT_INFO=-/93.3kb/12/7.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.3122_3123insGGA_p.Asp1040_Asp1041insGlu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF3+c.3122_3123insGGA+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117122285">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,30:93:99:716,0,2666:127	0/1:60,37:97:99:957,0,2472:127	0/1:43,32:75:99:852,0,1705:127
1	117122288	.	G	C	12630.29	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=330;MQ=71.16;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs647711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=647711" target="_blank">rs647711</a>;cosmic68.Histology_subtype=adenocarcinoma;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaG;snpeff.Amino_Acid_Change=p.Asp1040Glu/c.3120C>G;snpeff.Amino_Acid_length=1214;snpeff.Gene_Name=IGSF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF3" target="_blank">IGSF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369483;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369483;SAVANT_GENE=IGSF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF3" target="_blank">IGSF3</a>;SAVANT_INFO=-/93.3kb/12/7.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.3120C>G_p.Asp1040Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF3+c.3120C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117122288">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,45:108:99:1570,0,1905:127	0/1:62,61:123:99:2159,0,1730:127	0/1:45,54:99:99:1909,0,1206:127
1	117142613	.	C	T	156.77	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=92;MQ=66.65;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76151115;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76151115" target="_blank">rs76151115</a>;ExAC.Info.AC=6049;ExAC.Info.AN=126700;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=5029;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg680Gln/c.2039G>A;snpeff.Amino_Acid_length=1214;snpeff.Gene_Name=IGSF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF3" target="_blank">IGSF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369483;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369483;SAVANT_GENE=IGSF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF3" target="_blank">IGSF3</a>;SAVANT_INFO=-/93.3kb/12/7.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.2039G>A_p.Arg680Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF3+c.2039G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117142613">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,4:35:36:36,0,965:28	0|0:28,0:28:84:0,84,1058:28	1|0:26,3:29:1:0,7,825:28
1	117311147	.	C	A	9471.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=408;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs699738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=699738" target="_blank">rs699738</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Rheumatoid_arthritis|_reduced_risk;hgmd_2014.2.OMIM_ID=186990;hgmd_2014.2.PubMed=23261300;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23261300" target="_blank">23261300</a>;ExAC.Info.AC=20772;ExAC.Info.AN=126704;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=15086;ExAC.Info.AC_Hom=2814;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.798C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=CD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD2" target="_blank">CD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369478;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.798C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=CD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD2" target="_blank">CD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369478;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caC/caA;snpeff.Amino_Acid_Change=p.His266Gln/c.798C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=CD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD2" target="_blank">CD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369478;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369478;SAVANT_GENE=CD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD2" target="_blank">CD2</a>;SAVANT_INFO=+/14.8kb/5/1.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.798C>A_p.His266Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD2+c.798C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117311147">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,73:130:99:2008,0,1603:127	0|0:158,0:158:99:0,475,5448:127	1|0:62,58:120:99:1566,0,1856:127
1	117487710	.	A	G	17228.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10159095;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10159095" target="_blank">rs10159095</a>;ExAC.Info.AC=112557;ExAC.Info.AN=126596;ExAC.Info.AF=0.889;ExAC.Info.AC_Het=11857;ExAC.Info.AC_Hom=49160;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro276Pro/c.828A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000393203;SAVANT_GENE=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;SAVANT_INFO=+/80.3kb/9/6.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.828A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGFRN+c.828A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117487710">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1944,168,0:127	1|1:2,69:71:99:2306,163,0:127	1|1:0,61:61:99:2180,183,0:127
1	117487711	.	T	A	22763.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4546904;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4546904" target="_blank">rs4546904</a>;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829T>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829T>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829T>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829T>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829T>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829T>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829T>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829T>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829T>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829T>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Aca;snpeff.Amino_Acid_Change=p.Ser277Thr/c.829T>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000393203;SAVANT_GENE=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;SAVANT_INFO=+/80.3kb/9/6.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.829T>A_p.Ser277Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGFRN+c.829T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117487711">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:2518,169,0:127	1|1:0,72:72:99:3129,217,0:127	1|1:0,59:59:99:2734,184,0:127
1	117509981	.	G	A	3903.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12410651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12410651" target="_blank">rs12410651</a>;ExAC.Info.AC=20914;ExAC.Info.AN=126444;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=16319;ExAC.Info.AC_Hom=1814;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2059+29G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000393203;SAVANT_GENE=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;SAVANT_INFO=+/80.3kb/9/6.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.2059+29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGFRN+c.2059+29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117509981">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,21:38:99:825,0,1074:127	1|0:19,19:38:99:731,0,1299:127	0|0:48,0:48:99:0,144,3304:127
1	117509987	.	C	T	3686.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12403233;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12403233" target="_blank">rs12403233</a>;ExAC.Info.AC=21126;ExAC.Info.AN=126414;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=16223;ExAC.Info.AC_Hom=1832;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2059+35C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2060C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000393203;SAVANT_GENE=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;SAVANT_INFO=+/80.3kb/9/6.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.2059+35C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGFRN+c.2059+35C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117509987">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,19:35:99:747,0,1088:127	1|0:19,18:37:99:696,0,1302:127	0|0:44,0:44:99:0,138,3220:127
1	117527645	.	GTCT	G	5264.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs36119404;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36119404" target="_blank">rs36119404</a>;ExAC.Info.AC=38796;ExAC.Info.AN=126418;ExAC.Info.AF=0.307;ExAC.Info.AC_Het=24222;ExAC.Info.AC_Hom=5855;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2473+39_2473+41delTCT;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2474_2476delTCT;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2474_2476delTCT;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2474_2476delTCT;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2474_2476delTCT;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2474_2476delTCT;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2474_2476delTCT;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2474_2476delTCT;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2474_2476delTCT;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000393203;SAVANT_GENE=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;SAVANT_INFO=+/80.3kb/9/6.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.2473+46_2473+48delCTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGFRN+c.2473+46_2473+48delCTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117527645">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,22:40:99:870,0,727:116	1|0:23,33:56:99:1315,0,908:116	0|0:39,0:39:99:0,117,1846:116
1	117529458	.	G	A	8943.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10801922;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10801922" target="_blank">rs10801922</a>;ExAC.Info.AC=62068;ExAC.Info.AN=126696;ExAC.Info.AF=0.490;ExAC.Info.AC_Het=29925;ExAC.Info.AC_Hom=16032;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2509G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val837Ile/c.2509G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393203;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000393203;SAVANT_GENE=PTGFRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGFRN" target="_blank">PTGFRN</a>;SAVANT_INFO=+/80.3kb/9/6.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2509G>A_p.Val837Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGFRN+c.2509G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117529458">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,61:126:99:1650,0,1813:127	1|0:69,70:139:99:1863,0,1874:127	0|0:86,0:86:99:0,258,2851:127
1	117554421	.	A	G	10120.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3754112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3754112" target="_blank">rs3754112</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=31445;ExAC.Info.AN=126690;ExAC.Info.AF=0.248;ExAC.Info.AC_Het=22279;ExAC.Info.AC_Hom=4526;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn225Ser/c.674A>G;snpeff.Amino_Acid_length=1021;snpeff.Gene_Name=CD101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD101" target="_blank">CD101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256652;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256652;SAVANT_GENE=CD101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD101" target="_blank">CD101</a>;SAVANT_INFO=+/34.8kb/10/3.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.674A>G_p.Asn225Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD101+c.674A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117554421">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,36:68:99:1165,0,894:127	0|1:41,31:72:99:870,0,1264:127	1|1:0,69:69:99:2543,207,0:127
1	117559726	.	A	G	29564.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=369;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2249265;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2249265" target="_blank">rs2249265</a>;ExAC.Info.AC=120436;ExAC.Info.AN=126686;ExAC.Info.AF=0.951;ExAC.Info.AC_Het=5761;ExAC.Info.AC_Hom=57233;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met415Val/c.1243A>G;snpeff.Amino_Acid_length=1021;snpeff.Gene_Name=CD101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD101" target="_blank">CD101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256652;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256652;SAVANT_GENE=CD101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD101" target="_blank">CD101</a>;SAVANT_INFO=+/34.8kb/10/3.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1243A>G_p.Met415Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD101+c.1243A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117559726">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:3583,327,0:127	1|1:0,139:139:99:4584,417,0:127	1|1:0,121:121:99:3868,363,0:127
1	117605130	.	CT	C	430.76	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs35553508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35553508" target="_blank">rs35553508</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.218+36delT;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369466;SAVANT_GENE=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;SAVANT_INFO=+/42.6kb/23/4.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.218+49delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTF2+c.218+49delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117605130">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,4:44:53:0,53,825:3	0|1:38,7:45:1:1,0,833:3	0|1:31,13:44:99:159,0,627:3
1	117617705	.	A	G	28557.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=598;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs998532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=998532" target="_blank">rs998532</a>;ExAC.Info.AC=72849;ExAC.Info.AN=126700;ExAC.Info.AF=0.575;ExAC.Info.AC_Het=28618;ExAC.Info.AC_Hom=22081;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Gaa;snpeff.Amino_Acid_Change=p.Lys167Glu/c.499A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369466;SAVANT_GENE=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;SAVANT_INFO=+/42.6kb/23/4.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.499A>G_p.Lys167Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTF2+c.499A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117617705">View</a>	GT:AD:DP:GQ:PL:TP	0|1:92,90:182:99:2768,0,2430:127	1|1:0,212:212:99:7697,637,0:127	0|1:109,95:204:99:2963,0,3192:127
1	117618067	.	C	T	15442.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1289673;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1289673" target="_blank">rs1289673</a>;ExAC.Info.AC=72791;ExAC.Info.AN=126702;ExAC.Info.AF=0.575;ExAC.Info.AC_Het=28600;ExAC.Info.AC_Hom=22072;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn287Asn/c.861C>T;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369466;SAVANT_GENE=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;SAVANT_INFO=+/42.6kb/23/4.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.861C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTF2+c.861C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117618067">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,43:100:99:1180,0,1804:127	1|1:0,120:120:99:4257,360,0:127	0|1:48,43:91:99:1241,0,1582:127
1	117622286	.	A	G	26601.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=541;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2801939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2801939" target="_blank">rs2801939</a>;ExAC.Info.AC=81151;ExAC.Info.AN=126704;ExAC.Info.AF=0.640;ExAC.Info.AC_Het=26690;ExAC.Info.AC_Hom=27201;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1783+15A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1784A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1784A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1784A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1784A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1784A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1784A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369466;SAVANT_GENE=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;SAVANT_INFO=+/42.6kb/23/4.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1783+15A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTF2+c.1783+15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117622286">View</a>	GT:AD:DP:GQ:PL:TP	0|1:81,95:176:99:2917,0,2086:127	1|1:0,191:191:99:7007,574,0:127	0|1:84,90:174:99:2726,0,2438:127
1	117631391	.	T	C	26204.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1555792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1555792" target="_blank">rs1555792</a>;ExAC.Info.AC=115910;ExAC.Info.AN=126670;ExAC.Info.AF=0.915;ExAC.Info.AC_Het=9382;ExAC.Info.AC_Hom=52610;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2161-32T>C;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2161T>C;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2161T>C;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2161T>C;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2161T>C;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2161T>C;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2161T>C;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369466;SAVANT_GENE=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;SAVANT_INFO=+/42.6kb/23/4.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2161-32T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTF2+c.2161-32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117631391">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3387,288,0:127	1|1:0,108:108:99:4080,324,0:127	1|1:0,91:91:99:3306,274,0:127
1	117644058	.	A	G	9349.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=414;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41276572;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41276572" target="_blank">rs41276572</a>;ExAC.Info.AC=2112;ExAC.Info.AN=126704;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=2051;ExAC.Info.AC_Hom=30;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3401A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3401A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3401A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3401A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3401A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys1134Arg/c.3401A>G;snpeff.Amino_Acid_length=1162;snpeff.Gene_Name=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369466;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369466;SAVANT_GENE=TTF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTF2" target="_blank">TTF2</a>;SAVANT_INFO=+/42.6kb/23/4.9kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.3401A>G_p.Lys1134Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTF2+c.3401A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117644058">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,55:120:99:1674,0,1839:127	1|0:72,69:141:99:2066,0,2084:127	0|0:153,0:153:99:0,460,5238:127
1	117655093	.	G	A	1446.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41301281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41301281" target="_blank">rs41301281</a>;ExAC.Info.AC=4222;ExAC.Info.AN=126686;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=3997;ExAC.Info.AC_Hom=101;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1595-18C>T;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256649;SAVANT_GENE=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;SAVANT_INFO=-/10.7kb/6/3.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1595-18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM45+c.1595-18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117655093">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,15:23:99:405,0,257:120	0|0:40,0:40:99:0,120,1459:120	1|0:16,13:29:99:325,0,466:120
1	117656088	.	A	G	2831.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1289658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1289658" target="_blank">rs1289658</a>;ExAC.Info.AC=52222;ExAC.Info.AN=126698;ExAC.Info.AF=0.412;ExAC.Info.AC_Het=29454;ExAC.Info.AC_Hom=11320;snpeff.Effect=sequence_feature[repeat:Filamin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1487A>G;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filamin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1487A>G;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filamin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1487A>G;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filamin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1487A>G;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1487A>G;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met496Thr/c.1487T>C;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256649;SAVANT_GENE=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;SAVANT_INFO=-/10.7kb/6/3.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1487T>C_p.Met496Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM45+c.1487T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117656088">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,10:26:99:226,0,477:127	0/1:24,18:42:99:375,0,705:127	0/1:28,11:39:99:305,0,858:127
1	117658290	.	C	T	1852.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34257983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34257983" target="_blank">rs34257983</a>;ExAC.Info.AC=2102;ExAC.Info.AN=126704;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=2049;ExAC.Info.AC_Hom=26;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1374C>T;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filamin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1374C>T;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filamin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1374C>T;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filamin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1374C>T;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filamin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1374C>T;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln458Gln/c.1374G>A;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256649;SAVANT_GENE=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;SAVANT_INFO=-/10.7kb/6/3.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1374G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM45+c.1374G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117658290">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1948:127	0|0:84,0:84:99:0,252,2746:127	0|1:25,32:57:99:945,0,687:127
1	117660754	.	C	T	7240.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs749902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=749902" target="_blank">rs749902</a>;ExAC.Info.AC=37135;ExAC.Info.AN=126704;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=25038;ExAC.Info.AC_Hom=6047;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tAt;snpeff.Amino_Acid_Change=p.Cys375Tyr/c.1124G>A;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256649;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256649;SAVANT_GENE=TRIM45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM45" target="_blank">TRIM45</a>;SAVANT_INFO=-/10.7kb/6/3.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1124G>A_p.Cys375Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM45+c.1124G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117660754">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,31:66:99:777,0,910:127	0/1:59,42:101:99:1113,0,1775:127	0/1:29,34:63:99:987,0,783:127
1	117715026	.	C	T	2934.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6657810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6657810" target="_blank">rs6657810</a>;ExAC.Info.AC=75301;ExAC.Info.AN=116754;ExAC.Info.AF=0.645;ExAC.Info.AC_Het=25047;ExAC.Info.AC_Hom=24878;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.41+783G>A;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=VTCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VTCN1" target="_blank">VTCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359008;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369458;SAVANT_GENE=VTCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VTCN1" target="_blank">VTCN1</a>;SAVANT_INFO=-/67.3kb/6/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.33-2233G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VTCN1+c.33-2233G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117715026">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,237,2763:127	0|1:53,49:102:99:1486,0,1490:127	0|0:91,0:91:99:0,273,3105:127
1	117910682	.	G	A	22219.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1146297;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1146297" target="_blank">rs1146297</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=124;snpeff.Amino_Acid_Change=c.-124G>A;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356554;SAVANT_GENE=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;SAVANT_INFO=+/161.4kb/13/8.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-124G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAN1A2+c.-124G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117910682">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3068,279,0:127	1|1:0,115:115:99:3939,346,0:127	1|1:0,96:96:99:3332,289,0:127
1	117957288	.	A	G	56850.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=788;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1289948;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1289948" target="_blank">rs1289948</a>;ExAC.Info.AC=94878;ExAC.Info.AN=126316;ExAC.Info.AF=0.751;ExAC.Info.AC_Het=22264;ExAC.Info.AC_Hom=35246;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.656-47A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356554;SAVANT_GENE=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;SAVANT_INFO=+/161.4kb/13/8.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.656-47A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAN1A2+c.656-47A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117957288">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,253:253:99:8899,760,0:127	1|1:0,282:282:99:10050,846,0:127	1|1:0,253:253:99:9099,760,0:127
1	117957505	.	A	G	2106.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7546882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7546882" target="_blank">rs7546882</a>;ExAC.Info.AC=8994;ExAC.Info.AN=126626;ExAC.Info.AF=0.071;ExAC.Info.AC_Het=8144;ExAC.Info.AC_Hom=378;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.774+52A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356554;SAVANT_GENE=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;SAVANT_INFO=+/161.4kb/13/8.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.774+52A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAN1A2+c.774+52A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:117957505">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,213,2423:127	0|1:47,34:81:99:1072,0,1461:127	0|0:87,0:87:99:0,262,3159:127
1	118053126	.	T	C	16608.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs41506254;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41506254" target="_blank">rs41506254</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1793+7534T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1794T>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356554;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356554;SAVANT_GENE=MAN1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAN1A2" target="_blank">MAN1A2</a>;SAVANT_INFO=+/161.4kb/13/8.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1793+7534T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAN1A2+c.1793+7534T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:118053126">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:2947,258,0:127	1|0:48,52:100:99:1449,0,1480:127	1|1:0,94:94:99:3119,282,0:127
1	118165691	.	C	T	9327.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1630312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1630312" target="_blank">rs1630312</a>;ExAC.Info.AC=33558;ExAC.Info.AN=126704;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=30411;ExAC.Info.AC_Hom=4810;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His67His/c.201C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=FAM46C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46C" target="_blank">FAM46C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369448;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369448;SAVANT_GENE=FAM46C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46C" target="_blank">FAM46C</a>;SAVANT_INFO=+/22.4kb/2/5.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.201C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM46C+c.201C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:118165691">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,38:74:99:1064,0,1124:127	0|0:87,0:87:99:0,261,3223:127	1|1:0,66:66:99:2443,198,0:127
1	118165973	.	C	T	1948.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1627787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1627787" target="_blank">rs1627787</a>;ExAC.Info.AC=32272;ExAC.Info.AN=126704;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=23869;ExAC.Info.AC_Hom=4200;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn161Asn/c.483C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=FAM46C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46C" target="_blank">FAM46C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369448;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369448;SAVANT_GENE=FAM46C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46C" target="_blank">FAM46C</a>;SAVANT_INFO=+/22.4kb/2/5.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.483C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM46C+c.483C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:118165973">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,289,3295:127	0|1:40,33:73:99:993,0,1308:127	0|0:63,0:63:99:0,189,2229:127
1	118166096	.	C	T	3562.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2884587;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2884587" target="_blank">rs2884587</a>;ExAC.Info.AC=21461;ExAC.Info.AN=126704;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=17333;ExAC.Info.AC_Hom=2056;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile202Ile/c.606C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=FAM46C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46C" target="_blank">FAM46C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369448;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369448;SAVANT_GENE=FAM46C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46C" target="_blank">FAM46C</a>;SAVANT_INFO=+/22.4kb/2/5.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.606C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM46C+c.606C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:118166096">View</a>	GT:AD:DP:GQ:PL:TP	0|0:119,0:119:99:0,358,4244:127	0|1:77,66:143:99:1800,0,2310:127	0|0:120,0:120:99:0,361,4327:127
1	118320859	.	T	A	5936.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=81;MQ=47.55;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1775749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1775749" target="_blank">rs1775749</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.270A>T;snpeff.Gene_Name=AL390877.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3908771" target="_blank">AL3908771</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000423940;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3908771" target="_blank">AL3908771</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3908771+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:118320859">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:857,75,0:71	1|1:0,32:32:96:1026,96,0:71	1|1:0,24:24:72:756,72,0:71
1	118514723	.	TA	T	97.28	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6142-54delT;snpeff.Amino_Acid_length=2223;snpeff.Gene_Name=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336338;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000336338;SAVANT_GENE=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;SAVANT_INFO=-/231.4kb/49/6.9kb;SAVANT_LOC=In44/45;SAVANT_HGVS=c.6142-54delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPAG17+c.6142-54delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:118514723">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,9:70:38:38,0,1377:35	1|0:76,12:88:48:48,0,1733:35	0|0:64,7:71:40:0,40,1520:35
1	118537142	.	T	C	21433.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1102;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72697565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72697565" target="_blank">rs72697565</a>;ExAC.Info.AC=1;ExAC.Info.AN=126674;ExAC.Info.AF=7.894e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile1689Val/c.5065A>G;snpeff.Amino_Acid_length=2223;snpeff.Gene_Name=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336338;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336338;SAVANT_GENE=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;SAVANT_INFO=-/231.4kb/49/6.9kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.5065A>G_p.Ile1689Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPAG17+c.5065A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:118537142">View</a>	GT:AD:DP:GQ:PL:TP	1|0:153,186:339:99:5135,0,4357:127	0|0:376,0:376:99:0,1130,13376:127	1|0:196,191:387:99:5284,0,5890:127
1	118565953	.	G	A	41120.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=767;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10923472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10923472" target="_blank">rs10923472</a>;ExAC.Info.AC=49952;ExAC.Info.AN=126672;ExAC.Info.AF=0.394;ExAC.Info.AC_Het=28761;ExAC.Info.AC_Hom=10522;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cTa;snpeff.Amino_Acid_Change=p.Pro1348Leu/c.4043C>T;snpeff.Amino_Acid_length=2223;snpeff.Gene_Name=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336338;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336338;SAVANT_GENE=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;SAVANT_INFO=-/231.4kb/49/6.9kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.4043C>T_p.Pro1348Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPAG17+c.4043C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:118565953">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,256:256:99:8118,769,0:127	1|0:158,136:294:99:3721,0,4628:127	1|1:0,217:217:99:7342,652,0:127
1	118583408	.	G	A	32272.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=538;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10923477;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10923477" target="_blank">rs10923477</a>;ExAC.Info.AC=50540;ExAC.Info.AN=126700;ExAC.Info.AF=0.399;ExAC.Info.AC_Het=28813;ExAC.Info.AC_Hom=10842;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr1037Tyr/c.3111C>T;snpeff.Amino_Acid_length=2223;snpeff.Gene_Name=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336338;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336338;SAVANT_GENE=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;SAVANT_INFO=-/231.4kb/49/6.9kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.3111C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPAG17+c.3111C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:118583408">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,159:159:99:4984,477,0:127	1|0:107,89:196:99:2416,0,3122:127	1|1:0,183:183:99:6050,549,0:127
1	118617274	.	C	T	45080.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=756;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1935993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1935993" target="_blank">rs1935993</a>;ExAC.Info.AC=58945;ExAC.Info.AN=126642;ExAC.Info.AF=0.465;ExAC.Info.AC_Het=29884;ExAC.Info.AC_Hom=14247;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2210-51G>A;snpeff.Amino_Acid_length=2223;snpeff.Gene_Name=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336338;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336338;SAVANT_GENE=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;SAVANT_INFO=-/231.4kb/49/6.9kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2210-51G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPAG17+c.2210-51G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:118617274">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,232:232:99:7563,697,0:127	1|0:151,149:300:99:4211,0,4272:127	1|1:0,224:224:99:7516,673,0:127
1	118644430	.	A	G	48062.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=802;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10754367;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10754367" target="_blank">rs10754367</a>;ExAC.Info.AC=69896;ExAC.Info.AN=126704;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=30622;ExAC.Info.AC_Hom=19632;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567A>G;snpeff.Amino_Acid_length=2223;snpeff.Gene_Name=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336338;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567A>G;snpeff.Amino_Acid_length=2223;snpeff.Gene_Name=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336338;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn189Asn/c.567T>C;snpeff.Amino_Acid_length=2223;snpeff.Gene_Name=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336338;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336338;SAVANT_GENE=SPAG17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPAG17" target="_blank">SPAG17</a>;SAVANT_INFO=-/231.4kb/49/6.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.567T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPAG17+c.567T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:118644430">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,239:239:99:8061,718,0:127	1|0:153,176:329:99:4828,0,4165:127	1|1:0,234:234:99:7824,702,0:127
1	119427228	.	GA	G	733.71	PASS	InheritancePattern=Normal;AC=2;AF=0.500;AN=4;DP=68;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=./0;OMIM_phenotypes.name=Cousin_syndrome|_260660_(3);snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=126;snpeff.Amino_Acid_Change=c.*126delT;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=TBX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX15" target="_blank">TBX15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369429;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000207157;SAVANT_GENE=TBX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX15" target="_blank">TBX15</a>;SAVANT_INFO=-/106.5kb/8/3.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*126delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TBX15+c.*126delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:119427228">View</a>	GT:AD:DP:GQ:PL	0/1:3,6:11:6:20,0,150	./0:7,10:25:22:47,29,501	./1:4,18:32:71:209,71,325
1	119427228	.	GA	GAA	733.71	PASS	InheritancePattern=notInChild;AC=2;AF=0.500;AN=4;DP=68;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=0/1;OMIM_phenotypes.name=Cousin_syndrome|_260660_(3);snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=125;snpeff.Amino_Acid_Change=c.*125_*126insT;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=TBX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX15" target="_blank">TBX15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369429;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000207157;SAVANT_GENE=TBX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX15" target="_blank">TBX15</a>;SAVANT_INFO=-/106.5kb/8/3.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*126dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TBX15+c.*126dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:119427228">View</a>	GT:AD:DP:GQ:PL	./0:3,2:11:6:20,6,83	0/1:7,8:25:22:47,0,121	./1:4,10:32:71:209,137,270
1	119575818	.	C	G	5881.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3790549;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3790549" target="_blank">rs3790549</a>;ExAC.Info.AC=7251;ExAC.Info.AN=126704;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=6575;ExAC.Info.AC_Hom=338;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Cct;snpeff.Amino_Acid_Change=p.Ala267Pro/c.799G>C;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=WARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WARS2" target="_blank">WARS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235521;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235521;SAVANT_GENE=WARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WARS2" target="_blank">WARS2</a>;SAVANT_INFO=-/109.5kb/6/2.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.799G>C_p.Ala267Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WARS2+c.799G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:119575818">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,54:103:99:1546,0,1573:127	1|0:45,36:81:99:1153,0,1440:127	0|0:86,0:86:99:0,259,3180:127
1	119584949	.	G	A	1708.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs33960696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33960696" target="_blank">rs33960696</a>;ExAC.Info.AC=8653;ExAC.Info.AN=126704;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=7885;ExAC.Info.AC_Hom=384;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His151His/c.453C>T;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=WARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WARS2" target="_blank">WARS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235521;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235521;SAVANT_GENE=WARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WARS2" target="_blank">WARS2</a>;SAVANT_INFO=-/109.5kb/6/2.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.453C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WARS2+c.453C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:119584949">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2253:127	0|0:83,0:83:99:0,249,2812:127	0|1:16,28:44:99:873,0,471:127
1	119923724	.	T	C	20887.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2275607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275607" target="_blank">rs2275607</a>;ExAC.Info.AC=61446;ExAC.Info.AN=126704;ExAC.Info.AF=0.485;ExAC.Info.AC_Het=30454;ExAC.Info.AC_Hom=15984;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu19Leu/c.55T>C;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=HAO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAO2" target="_blank">HAO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361035;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325945;SAVANT_GENE=HAO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAO2" target="_blank">HAO2</a>;SAVANT_INFO=+/25.3kb/8/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.16T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HAO2+c.16T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:119923724">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,61:117:99:1745,0,1552:127	1|1:0,145:145:99:5271,436,0:127	0|1:61,74:135:99:2207,0,1666:127
1	119927680	.	A	G	17975.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs6667679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6667679" target="_blank">rs6667679</a>;ExAC.Info.AC=83123;ExAC.Info.AN=126618;ExAC.Info.AF=0.656;ExAC.Info.AC_Het=27937;ExAC.Info.AC_Hom=27372;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.600+4A>G;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=HAO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAO2" target="_blank">HAO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361035;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.601A>G;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=HAO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAO2" target="_blank">HAO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361035;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325945;SAVANT_GENE=HAO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAO2" target="_blank">HAO2</a>;SAVANT_INFO=+/25.3kb/8/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.561+4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HAO2+c.561+4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:119927680">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,49:111:99:1369,0,1810:127	1|1:0,144:144:99:5146,433,0:127	0|1:73,59:132:99:1654,0,2225:127
1	119964339	.	T	TG	10732.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=561;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=3-beta-hydroxysteroid_dehydrogenase|_type_II|_deficiency|_201810_(3);dbSNP139.ID=rs199941359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199941359" target="_blank">rs199941359</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.308-92_308-91insG;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=HSD3B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B2" target="_blank">HSD3B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543831;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000543831;SAVANT_GENE=HSD3B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B2" target="_blank">HSD3B2</a>;SAVANT_INFO=+/8.1kb/4/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.308-90dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD3B2+c.308-90dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:119964339">View</a>	GT:AD:DP:GQ:PL:TP	1|0:101,69:170:99:1854,0,2954:127	0|0:222,0:222:99:0,668,7636:127	1|0:93,76:169:99:2115,0,2701:127
1	119964933	.	T	C	13599.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=512;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=3-beta-hydroxysteroid_dehydrogenase|_type_II|_deficiency|_201810_(3);dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75429891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75429891" target="_blank">rs75429891</a>;ExAC.Info.AC=45;ExAC.Info.AN=126702;ExAC.Info.AF=3.552e-04;ExAC.Info.AC_Het=45;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile270Thr/c.809T>C;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=HSD3B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B2" target="_blank">HSD3B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543831;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543831;SAVANT_GENE=HSD3B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B2" target="_blank">HSD3B2</a>;SAVANT_INFO=+/8.1kb/4/1.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.809T>C_p.Ile270Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD3B2+c.809T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:119964933">View</a>	GT:AD:DP:GQ:PL:TP	1|0:88,84:172:99:2691,0,2462:127	0|0:183,1:184:99:0,510,6600:127	1|0:74,82:156:99:2645,0,2134:127
1	120057158	.	C	T	15593.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=745;MQ=69.20;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6203;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6203" target="_blank">rs6203</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hypertension|_association_with;hgmd_2014.2.OMIM_ID=109715;hgmd_2014.2.PubMed=12054649;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12054649" target="_blank">12054649</a>;ExAC.Info.AC=55846;ExAC.Info.AN=126694;ExAC.Info.AF=0.441;ExAC.Info.AC_Het=28613;ExAC.Info.AC_Hom=13586;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu340Leu/c.1018C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=HSD3B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B1" target="_blank">HSD3B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235547;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369413;SAVANT_GENE=HSD3B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B1" target="_blank">HSD3B1</a>;SAVANT_INFO=+/7.9kb/4/1.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1012C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD3B1+c.1012C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120057158">View</a>	GT:AD:DP:GQ:PL:TP	0|1:134,124:258:99:3432,0,4215:127	1|0:133,132:265:99:3805,0,4100:127	0|0:222,0:222:99:0,667,8290:127
1	120057246	.	C	A	31820.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=677;MQ=67.40;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1047303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1047303" target="_blank">rs1047303</a>;ExAC.Info.AC=95582;ExAC.Info.AN=126654;ExAC.Info.AF=0.755;ExAC.Info.AC_Het=22007;ExAC.Info.AC_Hom=36268;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aAc;snpeff.Amino_Acid_Change=p.Thr369Asn/c.1106C>A;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=HSD3B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B1" target="_blank">HSD3B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235547;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369413;SAVANT_GENE=HSD3B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B1" target="_blank">HSD3B1</a>;SAVANT_INFO=+/7.9kb/4/1.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1100C>A_p.Thr367Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD3B1+c.1100C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120057246">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,216:216:99:7368,649,0:127	1|0:134,135:269:99:3895,0,4058:127	1|0:103,89:192:99:2573,0,3074:127
1	120165826	.	C	T	29463.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=450;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs12076924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12076924" target="_blank">rs12076924</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=77902;ExAC.Info.AN=123616;ExAC.Info.AF=0.630;ExAC.Info.AC_Het=18310;ExAC.Info.AC_Hom=19177;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro380Pro/c.1140G>A;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=ZNF697;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF697" target="_blank">ZNF697</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421812;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421812;SAVANT_GENE=ZNF697;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF697" target="_blank">ZNF697</a>;SAVANT_INFO=-/28.4kb/3/5.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1140G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF697+c.1140G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120165826">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4333,396,0:127	1|0:76,96:172:99:2662,0,2009:127	1|1:0,146:146:99:4836,438,0:127
1	120166453	.	G	C	4003.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs76236163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76236163" target="_blank">rs76236163</a>;ExAC.Info.AC=5355;ExAC.Info.AN=115626;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=1652;ExAC.Info.AC_Hom=72;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcG;snpeff.Amino_Acid_Change=p.Ala171Ala/c.513C>G;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=ZNF697;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF697" target="_blank">ZNF697</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421812;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421812;SAVANT_GENE=ZNF697;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF697" target="_blank">ZNF697</a>;SAVANT_INFO=-/28.4kb/3/5.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.513C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF697+c.513C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120166453">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,22:40:99:667,0,492:127	0|0:59,0:59:99:0,177,2029:127	1|0:23,31:54:99:960,0,619:127
1	120166681	.	G	A	12121.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12067843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12067843" target="_blank">rs12067843</a>;ExAC.Info.AC=70898;ExAC.Info.AN=125170;ExAC.Info.AF=0.566;ExAC.Info.AC_Het=28802;ExAC.Info.AC_Hom=20711;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser95Ser/c.285C>T;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=ZNF697;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF697" target="_blank">ZNF697</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421812;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421812;SAVANT_GENE=ZNF697;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF697" target="_blank">ZNF697</a>;SAVANT_INFO=-/28.4kb/3/5.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.285C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF697+c.285C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120166681">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,77:132:99:2009,0,1405:127	0/1:44,60:104:99:1707,0,1218:127	0/1:49,53:102:99:1514,0,1278:127
1	120254506	.	A	G	6508.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Phosphoglycerate_dehydrogenase_deficiency|_601815_(3);dbSNP139.ID=rs561931;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=561931" target="_blank">rs561931</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHGDH+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120254506">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,25:58:99:870,0,1031:127	0/1:23,27:50:99:976,0,729:127	0/1:22,32:54:99:1090,0,688:127
1	120254545	.	G	C	9392.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Phosphoglycerate_dehydrogenase_deficiency|_601815_(3);dbSNP139.ID=rs562038;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=562038" target="_blank">rs562038</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=101;snpeff.Amino_Acid_Change=c.-101G>C;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369409;SAVANT_GENE=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;SAVANT_INFO=+/32.3kb/12/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-101G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHGDH+c.-101G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120254545">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,48:92:99:1495,0,1281:127	0/1:34,39:73:99:1368,0,1084:127	0/1:41,45:86:99:1456,0,1363:127
1	120267431	.	G	A	10616.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=296;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Phosphoglycerate_dehydrogenase_deficiency|_601815_(3);dbSNP139.ID=rs55899400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55899400" target="_blank">rs55899400</a>;ExAC.Info.AC=1319;ExAC.Info.AN=18180;ExAC.Info.AF=0.073;ExAC.Info.AC_Het=1050;ExAC.Info.AC_Hom=68;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.356+1367G>A;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357G>A;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357G>A;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369409;SAVANT_GENE=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;SAVANT_INFO=+/32.3kb/12/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.356+1367G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHGDH+c.356+1367G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120267431">View</a>	GT:AD:DP:GQ:PL:TP	0/1:62,50:112:99:1343,0,1672:127	0/1:43,61:104:99:1948,0,1195:127	0/1:42,38:80:99:1115,0,1249:127
1	120267505	.	C	G	12798.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=395;MQ=69.95;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Phosphoglycerate_dehydrogenase_deficiency|_601815_(3);dbSNP139.ID=rs483180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=483180" target="_blank">rs483180</a>;ExAC.Info.AC=4294;ExAC.Info.AN=19568;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=2604;ExAC.Info.AC_Hom=504;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.356+1441C>G;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>G;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>G;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369409;SAVANT_GENE=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;SAVANT_INFO=+/32.3kb/12/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.356+1441C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHGDH+c.356+1441C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120267505">View</a>	GT:AD:DP:GQ:PL:TP	0/1:62,75:137:99:2006,0,1817:127	0/1:80,64:144:99:1798,0,2174:127	0/1:54,60:114:99:1605,0,1576:127
1	120267597	.	GC	G	1749.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Phosphoglycerate_dehydrogenase_deficiency|_601815_(3);dbSNP139.ID=rs3838425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3838425" target="_blank">rs3838425</a>;ExAC.Info.AC=7159;ExAC.Info.AN=20762;ExAC.Info.AF=0.345;ExAC.Info.AC_Het=3279;ExAC.Info.AC_Hom=1190;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.356+1534delC;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357delC;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357delC;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369409;SAVANT_GENE=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;SAVANT_INFO=+/32.3kb/12/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.356+1535delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHGDH+c.356+1535delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120267597">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1308:104	0|0:52,0:52:99:0,156,1932:104	0|1:11,27:38:99:898,0,287:104
1	120277194	.	TTAA	T	8618.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Phosphoglycerate_dehydrogenase_deficiency|_601815_(3);dbSNP139.ID=rs59445927;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59445927" target="_blank">rs59445927</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.511-62_511-60delTAA;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511_513delTAA;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511_513delTAA;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369409;SAVANT_GENE=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;SAVANT_INFO=+/32.3kb/12/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.511-56_511-54delTAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHGDH+c.511-56_511-54delTAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120277194">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,25:46:99:954,0,934:127	0/1:47,37:84:99:1396,0,2175:127	0/1:32,33:65:99:1248,0,1410:127
1	120285546	.	G	A	17806.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Phosphoglycerate_dehydrogenase_deficiency|_601815_(3);dbSNP139.ID=rs543703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=543703" target="_blank">rs543703</a>;ExAC.Info.AC=87412;ExAC.Info.AN=126700;ExAC.Info.AF=0.690;ExAC.Info.AC_Het=26202;ExAC.Info.AC_Hom=30565;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr442Thr/c.1326G>A;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369409;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369409;SAVANT_GENE=PHGDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHGDH" target="_blank">PHGDH</a>;SAVANT_INFO=+/32.3kb/12/1.9kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1326G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHGDH+c.1326G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120285546">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2042,168,0:127	1|1:0,84:84:99:3149,253,0:127	1|1:0,72:72:99:2517,216,0:127
1	120286863	.	A	G	21197.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=666;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs17258425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17258425" target="_blank">rs17258425</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17258425" target="_blank">rs17258425</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120286863">View</a>	GT:AD:DP:GQ:PL:TP	0/1:105,109:214:99:3161,0,2924:127	0/1:141,124:265:99:3692,0,3876:127	0/1:92,95:187:99:2743,0,2680:127
1	120293367	.	T	C	19710.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=HMG-CoA_synthase-2_deficiency|_605911_(3);dbSNP139.ID=rs667246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=667246" target="_blank">rs667246</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*5+53A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=HMGCS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCS2" target="_blank">HMGCS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369406;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369406;SAVANT_GENE=HMGCS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCS2" target="_blank">HMGCS2</a>;SAVANT_INFO=-/20.9kb/10/2.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*58A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMGCS2+c.*58A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120293367">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2749,240,0:127	1|1:0,103:103:99:3656,310,0:127	1|1:0,55:55:99:1956,165,0:127
1	120311460	.	C	T	7406.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=800;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=HMG-CoA_synthase-2_deficiency|_605911_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72695184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72695184" target="_blank">rs72695184</a>;ExAC.Info.AC=7;ExAC.Info.AN=126702;ExAC.Info.AF=5.525e-05;ExAC.Info.AC_Het=7;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8C>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=HMGCS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCS2" target="_blank">HMGCS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369406;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8C>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=HMGCS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCS2" target="_blank">HMGCS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369406;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg3His/c.8G>A;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=HMGCS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCS2" target="_blank">HMGCS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369406;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369406;SAVANT_GENE=HMGCS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCS2" target="_blank">HMGCS2</a>;SAVANT_INFO=-/20.9kb/10/2.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.8G>A_p.Arg3His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMGCS2+c.8G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120311460">View</a>	GT:AD:DP:GQ:PL:TP	0|0:248,1:249:99:0,707,8057:127	0|0:299,0:299:99:0,898,9924:127	0|1:116,136:252:99:3722,0,3034:127
1	120336785	.	C	T	9035.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs1052972;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052972" target="_blank">rs1052972</a>;ExAC.Info.AC=62432;ExAC.Info.AN=119974;ExAC.Info.AF=0.520;ExAC.Info.AC_Het=27604;ExAC.Info.AC_Hom=17085;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=456;snpeff.Amino_Acid_Change=c.*456G>A;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=REG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REG4" target="_blank">REG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256585;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354219;SAVANT_GENE=REG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REG4" target="_blank">REG4</a>;SAVANT_INFO=-/17.6kb/7/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*456G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=REG4+c.*456G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120336785">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,64:112:99:1651,0,1325:127	0/1:55,63:118:99:1738,0,1587:127	0/1:43,30:73:99:831,0,1364:127
1	120336876	.	T	G	3934.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs699778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=699778" target="_blank">rs699778</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=365;snpeff.Amino_Acid_Change=c.*365A>C;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=REG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REG4" target="_blank">REG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256585;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354219;SAVANT_GENE=REG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REG4" target="_blank">REG4</a>;SAVANT_INFO=-/17.6kb/7/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*365A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=REG4+c.*365A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120336876">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,21:47:99:644,0,767:127	0/1:34,25:59:99:685,0,985:127	0/1:19,16:35:99:489,0,557:127
1	120378678	.	C	T	9850.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3009182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3009182" target="_blank">rs3009182</a>;ExAC.Info.AC=94256;ExAC.Info.AN=125686;ExAC.Info.AF=0.750;ExAC.Info.AC_Het=21090;ExAC.Info.AC_Hom=36431;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1689G>A;snpeff.Gene_Name=NBPF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF7" target="_blank">NBPF7</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000401014;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF7" target="_blank">NBPF7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120378678">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,29:72:99:786,0,1245:127	1|1:0,84:84:99:2723,252,0:127	0|1:39,29:68:99:744,0,1101:127
1	120436751	.	T	C	4145.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35273427;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35273427" target="_blank">rs35273427</a>;ExAC.Info.AC=11691;ExAC.Info.AN=126670;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=9732;ExAC.Info.AC_Hom=977;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2209T>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5_X_9_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2209T>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2209T>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr737Ala/c.2209A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369400;SAVANT_GENE=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;SAVANT_INFO=-/3.0kb/1/3.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.2209A>G_p.Thr737Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM30+c.2209A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120436751">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,31:59:99:1044,0,670:127	1|0:32,29:61:99:881,0,773:127	0|0:70,0:70:99:0,204,2442:127
1	120437718	.	G	A	16295.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=705;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2793823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2793823" target="_blank">rs2793823</a>;snpeff.Effect=sequence_feature[domain:Disintegrin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1242G>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1242G>A;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp414Asp/c.1242C>T;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369400;SAVANT_GENE=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;SAVANT_INFO=-/3.0kb/1/3.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1242C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM30+c.1242C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120437718">View</a>	GT:AD:DP:GQ:PL:TP	0|1:117,106:223:99:2865,0,3331:127	1|0:138,140:278:99:3906,0,4133:127	0|0:204,0:204:99:0,613,7226:127
1	120437884	.	A	G	14390.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=694;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2641348;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2641348" target="_blank">rs2641348</a>;ExAC.Info.AC=16686;ExAC.Info.AN=126700;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=13565;ExAC.Info.AC_Hom=1556;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076A>G;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTt/cCt;snpeff.Amino_Acid_Change=p.Leu359Pro/c.1076T>C;snpeff.Amino_Acid_length=790;snpeff.Gene_Name=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369400;SAVANT_GENE=ADAM30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM30" target="_blank">ADAM30</a>;SAVANT_INFO=-/3.0kb/1/3.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1076T>C_p.Leu359Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM30+c.1076T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120437884">View</a>	GT:AD:DP:GQ:PL:TP	0|1:120,111:231:99:3062,0,3406:127	1|0:117,112:229:99:3184,0,3274:127	0|0:234,0:234:99:0,702,7905:127
1	120458004	.	A	T	10822.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=514;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs6685892;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6685892" target="_blank">rs6685892</a>;ExAC.Info.AC=16342;ExAC.Info.AN=126704;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=13335;ExAC.Info.AC_Hom=1498;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7341A>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7341A>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7341A>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7341A>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7341A>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7341A>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7341A>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggA;snpeff.Amino_Acid_Change=p.Gly2447Gly/c.7341T>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.7341T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.7341T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120458004">View</a>	GT:AD:DP:GQ:PL:TP	0|1:84,80:164:99:2161,0,2296:127	1|0:97,79:176:99:2294,0,2723:127	0|0:174,0:174:99:0,521,5971:127
1	120471857	.	C	T	6998.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=350;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs2493392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2493392" target="_blank">rs2493392</a>;ExAC.Info.AC=16292;ExAC.Info.AN=126704;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=13301;ExAC.Info.AC_Hom=1470;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3656-22G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_31];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_31];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3656-22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.3656-22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120471857">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,41:95:99:1081,0,1673:127	1|0:79,62:141:99:1578,0,2359:127	0|0:114,0:114:99:0,343,4192:127
1	120477998	.	C	A	13734.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=750;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs2453056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2453056" target="_blank">rs2453056</a>;ExAC.Info.AC=23598;ExAC.Info.AN=126620;ExAC.Info.AF=0.186;ExAC.Info.AC_Het=16727;ExAC.Info.AC_Hom=3066;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3655+97G>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_31];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_31];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3656C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3655+97G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.3655+97G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120477998">View</a>	GT:AD:DP:GQ:PL:TP	0|1:115,114:229:99:3023,0,3542:127	1|0:133,132:265:99:3636,0,4049:127	0|0:256,0:256:99:0,769,9303:127
1	120480394	.	T	C	52681.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=657;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs2453057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2453057" target="_blank">rs2453057</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3337+86A>G;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_29];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_29];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3338T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.3337+86A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.3337+86A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120480394">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,209:209:99:7321,628,0:127	1|1:0,272:272:99:9765,817,0:127	1|1:0,176:176:99:6399,529,0:127
1	120484421	.	G	A	6138.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs2493420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2493420" target="_blank">rs2493420</a>;ExAC.Info.AC=22336;ExAC.Info.AN=126496;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=16027;ExAC.Info.AC_Hom=2431;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2753-44C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2753G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2753-44C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.2753-44C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120484421">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,26:49:99:737,0,736:127	1|0:36,54:90:99:1682,0,1123:127	0|0:62,0:62:99:0,187,2409:127
1	120506108	.	G	A	7532.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=426;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs2934381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2934381" target="_blank">rs2934381</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1915+89C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1915+89C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.1915+89C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120506108">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,66:128:99:1830,0,1977:127	1|0:89,72:161:99:1921,0,2700:127	0|0:137,0:137:99:0,412,5079:127
1	120512104	.	T	C	40009.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=507;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs2493409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2493409" target="_blank">rs2493409</a>;ExAC.Info.AC=125504;ExAC.Info.AN=126456;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=776;ExAC.Info.AC_Hom=57151;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1108+30A>G;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1109T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1108+30A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.1108+30A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120512104">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:5287,457,0:127	1|1:0,189:189:99:6489,568,0:127	1|1:0,166:166:99:5489,499,0:127
1	120539331	.	C	T	18142.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=816;MQ=68.32;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs2124109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2124109" target="_blank">rs2124109</a>;cosmic68.Histology_subtype=adenoma;ExAC.Info.AC=55769;ExAC.Info.AN=126704;ExAC.Info.AF=0.440;ExAC.Info.AC_Het=55718;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.751+289G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.751+289G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.751+289G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120539331">View</a>	GT:AD:DP:GQ:PL:TP	0/1:155,130:285:99:3206,0,4170:127	0/1:181,63:244:99:1388,0,5192:127	0/1:168,119:287:99:2866,0,4615:127
1	120572547	.	T	C	848.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=38;MQ=34.41;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs141882865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141882865" target="_blank">rs141882865</a>;ExAC.Info.AC=22101;ExAC.Info.AN=99070;ExAC.Info.AF=0.223;ExAC.Info.AC_Het=9937;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.137T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.137A>G_p.Asn46Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.137A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120572547">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,7:15:99:198,0,237:102	0/1:8,4:12:99:103,0,250:102	0/1:5,6:11:99:176,0,141:102
1	120572572	.	C	T	1307.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=53;MQ=36.39;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs146242578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146242578" target="_blank">rs146242578</a>;ExAC.Info.AC=21884;ExAC.Info.AN=102898;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=9372;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" 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target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Aaa;snpeff.Amino_Acid_Change=p.Glu38Lys/c.112G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.112G>A_p.Glu38Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.112G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120572572">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,10:20:99:287,0,306:125	0/1:11,5:16:99:126,0,352:125	0/1:8,9:17:99:262,0,244:125
1	120611496	.	C	A	488.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=51;MQ=54.13;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs138685616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138685616" target="_blank">rs138685616</a>;ExAC.Info.AC=1061;ExAC.Info.AN=14556;ExAC.Info.AF=0.073;ExAC.Info.AC_Het=577;ExAC.Info.AC_Hom=14;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+452G>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74C>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73+452G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.73+452G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120611496">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,2:11:54:54,0,369:32	0/1:18,4:22:99:108,0,804:32	0/1:16,2:18:33:33,0,696:32
1	120611498	.	G	C	488.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=54;MQ=52.85;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2489097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2489097" target="_blank">rs2489097</a>;ExAC.Info.AC=612;ExAC.Info.AN=14910;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=442;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+450C>G;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74G>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74G>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73+450C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.73+450C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120611498">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,2:12:54:54,0,369:32	0/1:19,4:23:99:108,0,804:32	0/1:17,2:19:33:33,0,696:32
1	120611554	.	T	C	8310.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=213;MQ=55.12;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75248693;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75248693" target="_blank">rs75248693</a>;ExAC.Info.AC=5895;ExAC.Info.AN=16500;ExAC.Info.AF=0.357;ExAC.Info.AC_Het=5704;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+394A>G;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73+394A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.73+394A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120611554">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,21:76:99:746,0,2237:127	0/1:52,14:66:99:431,0,2127:127	0/1:39,32:71:99:1220,0,1622:127
1	120611555	.	T	G	8310.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=214;MQ=55.19;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77254078;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77254078" target="_blank">rs77254078</a>;ExAC.Info.AC=5819;ExAC.Info.AN=16662;ExAC.Info.AF=0.349;ExAC.Info.AC_Het=5630;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+393A>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74T>G;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74T>G;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73+393A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.73+393A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120611555">View</a>	GT:AD:DP:GQ:PL:TP	0/1:54,22:76:99:746,0,2237:127	0/1:51,14:65:99:431,0,2127:127	0/1:41,32:73:99:1220,0,1622:127
1	120611715	.	A	G	6086.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=173;MQ=64.08;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs2794167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794167" target="_blank">rs2794167</a>;ExAC.Info.AC=3953;ExAC.Info.AN=18582;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=3259;ExAC.Info.AC_Hom=161;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+233T>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74A>G;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74A>G;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73+233T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.73+233T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120611715">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,29:50:99:993,0,539:127	0/1:32,25:57:99:762,0,946:127	0/1:42,24:66:99:646,0,1324:127
1	120611758	.	G	A	4932.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=146;MQ=64.89;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61790276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61790276" target="_blank">rs61790276</a>;ExAC.Info.AC=5866;ExAC.Info.AN=25502;ExAC.Info.AF=0.230;ExAC.Info.AC_Het=5190;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+190C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73+190C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.73+190C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120611758">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,23:46:99:729,0,685:127	0/1:32,19:51:99:537,0,1031:127	0/1:26,23:49:99:684,0,848:127
1	120611830	.	G	A	2486.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=84;MQ=54.33;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbSNP139.ID=rs61790277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61790277" target="_blank">rs61790277</a>;ExAC.Info.AC=9895;ExAC.Info.AN=71966;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=5499;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+118C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73+118C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.73+118C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120611830">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,11:27:99:290,0,486:127	0/1:12,12:24:99:319,0,360:127	0/1:21,12:33:99:322,0,599:127
1	120611876	.	C	T	2597.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=89;MQ=47.56;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs11801062;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11801062" target="_blank">rs11801062</a>;ExAC.Info.AC=18163;ExAC.Info.AN=98756;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=8650;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+72G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73+72G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.73+72G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120611876">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,13:32:99:313,0,592:127	0/1:9,14:23:99:306,0,244:127	0/1:22,12:34:99:324,0,711:127
1	120611964	.	G	C	2787.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=106;MQ=59.44;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11810554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11810554" target="_blank">rs11810554</a>;cosmic68.Histology_subtype=oligodendroglioma_Grade_III;ExAC.Info.AC=47859;ExAC.Info.AN=118456;ExAC.Info.AF=0.404;ExAC.Info.AC_Het=45824;ExAC.Info.AC_Hom=5;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57G>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57G>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tgC/tgG;snpeff.Amino_Acid_Change=p.Cys19Trp/c.57C>G;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.57C>G_p.Cys19Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.57C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120611964">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,12:34:99:328,0,630:127	0/1:16,10:26:99:279,0,554:127	0/1:26,20:46:99:572,0,851:127
1	120612006	.	G	A	2306.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=126;MQ=60.82;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbNSFPv2.8.MutationtasterPred=D;dbSNP139.ID=rs4021006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4021006" target="_blank">rs4021006</a>;cosmic68.Histology_subtype=serous_carcinoma;ExAC.Info.AC=49676;ExAC.Info.AN=118208;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=45581;ExAC.Info.AC_Hom=270;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg5Arg/c.15C>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.15C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.15C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120612006">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,9:37:99:175,0,889:127	0/1:22,12:34:99:217,0,754:127	0/1:32,23:55:99:581,0,975:127
1	120612037	.	TCCTCCGCCG	T	1327.16	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=138;MQ=59.02;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);ExAC.Info.AC=722;ExAC.Info.AN=109256;ExAC.Info.AF=6.608e-03;ExAC.Info.AC_Het=679;ExAC.Info.AC_Hom=0;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=18;snpeff.Amino_Acid_Change=c.-26_-34delCGGCGGAGG;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26_-18del9;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.-26_-18del9+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120612037">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,8:37:99:214,0,1152:18	0|0:34,2:36:18:0,18,1417:18	1|0:56,9:65:99:193,0,2261:18
1	120612040	.	T	TCCTCCGCCG	2827.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=130;MQ=59.58;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);ExAC.Info.AC=4801;ExAC.Info.AN=105594;ExAC.Info.AF=0.045;ExAC.Info.AC_Het=3326;ExAC.Info.AC_Hom=0;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=21;snpeff.Amino_Acid_Change=c.-21_-22insCGGCGGAGG;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-21_-20insCGGCGGAGG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.-21_-20insCGGCGGAGG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120612040">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,8:33:99:115,0,953:115	0/1:22,12:34:99:311,0,810:115	0/1:42,21:63:99:592,0,1501:115
1	120612154	.	C	G	1972.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=104;MQ=59.23;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs56375229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56375229" target="_blank">rs56375229</a>;snpeff.Effect=TF_binding_site_variant[MA0014.1:Pax5];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=134;snpeff.Amino_Acid_Change=c.-134G>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-134G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.-134G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120612154">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,11:45:99:336,0,1389:60	0/1:27,4:31:60:60,0,1193:60	0/1:20,8:28:99:232,0,900:60
1	120612163	.	C	A	1915.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=105;MQ=60.76;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs55899574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55899574" target="_blank">rs55899574</a>;snpeff.Effect=TF_binding_site_variant[MA0014.1:Pax5];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=143;snpeff.Amino_Acid_Change=c.-143G>T;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-143G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.-143G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120612163">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,11:44:99:370,0,1349:45	0/1:27,3:30:45:45,0,1124:45	0/1:23,8:31:99:226,0,984:45
1	120612168	.	C	T	1292.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=102;MQ=61.31;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs11801102;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11801102" target="_blank">rs11801102</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=148;snpeff.Amino_Acid_Change=c.-148G>A;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-148G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.-148G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120612168">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,10:44:99:206,0,1080:103	0/1:24,7:31:99:103,0,689:103	0/1:17,10:27:99:249,0,613:103
1	120612194	.	C	G	615.37	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=71;MQ=60.25;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs79247096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79247096" target="_blank">rs79247096</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=174;snpeff.Amino_Acid_Change=c.-174G>C;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-174G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.-174G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120612194">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,5:31:76:76,0,762:22	0/1:19,3:22:49:49,0,531:22	0/1:16,2:18:22:22,0,473:22
1	120612223	.	AGCC	A	342.08	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=49;MQ=58.65;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Alagille_syndrome_2|_610205_(3)|_Hajdu-Cheney_syndrome|_102500_(3);dbSNP139.ID=rs372622310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=372622310" target="_blank">rs372622310</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=204;snpeff.Amino_Acid_Change=c.-206_-208delGGC;snpeff.Amino_Acid_length=2471;snpeff.Gene_Name=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000256646;SAVANT_GENE=NOTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2" target="_blank">NOTCH2</a>;SAVANT_INFO=-/158.1kb/34/11.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-206_-204delGGC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2+c.-206_-204delGGC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:120612223">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,4:20:99:120,0,668:38	1|0:14,1:15:0:0,0,599:38	0|0:14,0:14:42:0,42,651:38
1	121115981	.	C	T	116.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=97;MQ=43.44;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs201138873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201138873" target="_blank">rs201138873</a>;ExAC.Info.AC=3331;ExAC.Info.AN=95790;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=2581;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.243C>T;snpeff.Gene_Name=SRGAP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2C" target="_blank">SRGAP2C</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000367123;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.330-11232G>A;snpeff.Gene_Name=RP11-343N15.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2C" target="_blank">SRGAP2C</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437515;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2C" target="_blank">SRGAP2C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:121115981">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,2:32:27:0,27,882:27	0|0:56,0:56:99:0,168,1909:27	0|1:6,3:9:77:77,0,182:27
1	121116733	.	A	G	492.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=444;MQ=64.20;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61806691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61806691" target="_blank">rs61806691</a>;ExAC.Info.AC=61590;ExAC.Info.AN=124910;ExAC.Info.AF=0.493;ExAC.Info.AC_Het=61446;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.356A>G;snpeff.Gene_Name=SRGAP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2C" target="_blank">SRGAP2C</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000367123;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.330-11984T>C;snpeff.Gene_Name=RP11-343N15.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2C" target="_blank">SRGAP2C</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437515;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2C" target="_blank">SRGAP2C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:121116733">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,426,4674:127	0|0:155,0:155:99:0,466,5544:127	0|1:126,21:147:99:265,0,3883:127
1	121129557	.	T	C	592.01	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=24;MQ=30.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs200881439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200881439" target="_blank">rs200881439</a>;ExAC.Info.AC=24190;ExAC.Info.AN=109246;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=12912;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.828T>C;snpeff.Gene_Name=SRGAP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2C" target="_blank">SRGAP2C</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000367123;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.329+9784A>G;snpeff.Gene_Name=RP11-343N15.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2C" target="_blank">SRGAP2C</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437515;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2C" target="_blank">SRGAP2C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:121129557">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:27:0,27,313:27	0|1:2,5:7:48:153,0,48:27	0|1:5,3:8:80:80,0,150:27
1	144013853	.	T	C	7624.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6600697;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6600697" target="_blank">rs6600697</a>;ExAC.Info.AC=9588;ExAC.Info.AN=27396;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=8368;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.916-48T>C;snpeff.Gene_Name=SRGAP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2B" target="_blank">SRGAP2B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000467933;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2B" target="_blank">SRGAP2B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144013853">View</a>	GT:AD:DP:GQ:PL:TP	0/1:109,40:149:99:963,0,3274:127	0/1:95,43:138:99:1137,0,2851:127	0/1:77,45:122:99:1264,0,2212:127
1	144013865	.	T	G	7988.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=465;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6600696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6600696" target="_blank">rs6600696</a>;ExAC.Info.AC=10291;ExAC.Info.AN=27508;ExAC.Info.AF=0.374;ExAC.Info.AC_Het=9133;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.916-36T>G;snpeff.Gene_Name=SRGAP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2B" target="_blank">SRGAP2B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000467933;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2B" target="_blank">SRGAP2B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144013865">View</a>	GT:AD:DP:GQ:PL:TP	0/1:126,40:166:99:879,0,4003:127	0/1:109,51:160:99:1206,0,3536:127	0/1:85,54:139:99:1325,0,2621:127
1	144676751	.	C	A	70.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=134;MQ=56.87;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144676751">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,128,1537:54	0|1:3,2:5:54:54,0,88:54	0|0:86,0:86:99:0,258,2928:54
1	144854528	.	A	G	1411.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=227;MQ=69.12;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs78461771;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78461771" target="_blank">rs78461771</a>;ExAC.Info.AC=52560;ExAC.Info.AN=126696;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=52172;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile2450Ile/c.7350T>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.6942T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.6942T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144854528">View</a>	GT:AD:DP:GQ:PL:TP	0/1:61,8:69:99:152,0,2494:127	0/1:88,13:101:99:229,0,3575:127	0/1:50,7:57:99:140,0,2094:127
1	144854537	.	T	C	1204.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=230;MQ=69.06;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3851872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3851872" target="_blank">rs3851872</a>;ExAC.Info.AC=54089;ExAC.Info.AN=126700;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=53741;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu2447Glu/c.7341A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.6933A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.6933A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144854537">View</a>	GT:AD:DP:GQ:PL:TP	0/1:62,8:70:99:146,0,2537:127	0/1:89,10:99:99:149,0,3658:127	0/1:54,7:61:99:131,0,2190:127
1	144854581	.	T	C	599.35	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=69.08;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs78371650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78371650" target="_blank">rs78371650</a>;ExAC.Info.AC=51096;ExAC.Info.AN=126704;ExAC.Info.AF=0.403;ExAC.Info.AC_Het=50623;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr2433Ala/c.7297A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.6889A>G_p.Thr2297Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.6889A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144854581">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,6:61:5:5,0,1599:6	0|0:83,6:89:42:0,42,2572:6	1|0:59,9:68:99:139,0,1790:6
1	144854594	.	G	T	1235.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=68.98;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs79028512;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79028512" target="_blank">rs79028512</a>;ExAC.Info.AC=60736;ExAC.Info.AN=126704;ExAC.Info.AF=0.479;ExAC.Info.AC_Het=60599;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctA;snpeff.Amino_Acid_Change=p.Leu2428Leu/c.7284C>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.6876C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.6876C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144854594">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,5:54:61:61,0,2022:41	0|0:79,5:84:42:0,42,3318:41	1|0:52,11:63:99:364,0,2140:41
1	144854597	.	T	C	10403.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=197;MQ=68.88;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3851873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3851873" target="_blank">rs3851873</a>;ExAC.Info.AC=64663;ExAC.Info.AN=126704;ExAC.Info.AF=0.510;ExAC.Info.AC_Het=62034;ExAC.Info.AC_Hom=1305;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgG;snpeff.Amino_Acid_Change=p.Arg2427Arg/c.7281A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.6873A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.6873A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144854597">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,20:51:99:738,0,1241:127	0/1:41,42:83:99:1610,0,1553:127	0/1:24,39:63:99:1585,0,876:127
1	144854598	.	C	T	7657.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=190;MQ=68.96;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3863691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3863691" target="_blank">rs3863691</a>;ExAC.Info.AC=63350;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63349;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg2427Gln/c.7280G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.6872G>A_p.Arg2291Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.6872G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144854598">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,14:50:99:514,0,1466:127	0/1:43,36:79:99:1385,0,1764:127	0/1:35,26:61:99:1019,0,1407:127
1	144854608	.	T	G	1011.22	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=165;MQ=68.84;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2798855;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2798855" target="_blank">rs2798855</a>;ExAC.Info.AC=3426;ExAC.Info.AN=126704;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=3398;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Caa;snpeff.Amino_Acid_Change=p.Lys2424Gln/c.7270A>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.6862A>C_p.Lys2288Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.6862A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144854608">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,4:45:14:14,0,1648:14	1|0:54,9:63:99:160,0,2094:14	0|0:57,0:57:99:0,180,2335:14
1	144865850	.	G	T	10332.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1613780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1613780" target="_blank">rs1613780</a>;ExAC.Info.AC=63346;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63340;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaA;snpeff.Amino_Acid_Change=p.Asp2046Glu/c.6138C>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.5730C>A_p.Asp1910Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.5730C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144865850">View</a>	GT:AD:DP:GQ:PL:TP	0/1:67,60:127:99:1516,0,2017:127	0/1:104,68:172:99:1811,0,3007:127	0/1:73,39:112:99:963,0,2129:127
1	144866643	.	G	A	25737.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=875;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1620560;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1620560" target="_blank">rs1620560</a>;ExAC.Info.AC=63352;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63352;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg2003Cys/c.6007C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.5599C>T_p.Arg1867Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.5599C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144866643">View</a>	GT:AD:DP:GQ:PL:TP	0/1:144,131:275:99:3663,0,4058:127	0/1:162,159:321:99:4532,0,4315:127	0/1:159,120:279:99:3524,0,4484:127
1	144866662	.	T	C	25082.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=809;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1064044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1064044" target="_blank">rs1064044</a>;ExAC.Info.AC=64664;ExAC.Info.AN=126704;ExAC.Info.AF=0.510;ExAC.Info.AC_Het=62039;ExAC.Info.AC_Hom=1312;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu1996Glu/c.5988A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.5580A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.5580A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144866662">View</a>	GT:AD:DP:GQ:PL:TP	0/1:136,123:259:99:3718,0,3816:127	0/1:152,148:300:99:4247,0,4066:127	0/1:137,113:250:99:3429,0,3911:127
1	144871782	.	A	G	4533.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1778158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1778158" target="_blank">rs1778158</a>;ExAC.Info.AC=63349;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63343;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTc/cCc;snpeff.Amino_Acid_Change=p.Leu1863Pro/c.5588T>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.5180T>C_p.Leu1727Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.5180T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144871782">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,15:39:99:416,0,702:127	0/1:26,29:55:99:953,0,735:127	0/1:16,20:36:99:652,0,467:127
1	144871829	.	C	T	1138.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs111761861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111761861" target="_blank">rs111761861</a>;ExAC.Info.AC=3200;ExAC.Info.AN=126704;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=3148;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttG/ttA;snpeff.Amino_Acid_Change=p.Leu1847Leu/c.5541G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.5133G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.5133G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144871829">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,10:65:99:128,0,1776:127	1|0:63,19:82:99:356,0,2032:127	0|0:68,0:68:99:0,204,2220:127
1	144871889	.	A	C	6753.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1698606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1698606" target="_blank">rs1698606</a>;ExAC.Info.AC=63285;ExAC.Info.AN=126680;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63218;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5489-8T>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5489T>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In31/32;SAVANT_HGVS=c.5081-8T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.5081-8T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144871889">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,25:80:99:586,0,1550:127	0/1:51,45:96:99:1352,0,1321:127	0/1:38,29:67:99:870,0,957:127
1	144873887	.	C	T	10880.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1699787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1699787" target="_blank">rs1699787</a>;ExAC.Info.AC=63327;ExAC.Info.AN=126700;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63316;ExAC.Info.AC_Hom=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln1826Gln/c.5478G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5070G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.5070G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144873887">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,46:104:99:1381,0,1867:127	0/1:77,62:139:99:1739,0,2412:127	0/1:68,48:116:99:1369,0,2095:127
1	144874760	.	T	C	7532.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=290;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1610774;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1610774" target="_blank">rs1610774</a>;ExAC.Info.AC=63353;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63351;ExAC.Info.AC_Hom=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu1752Glu/c.5256A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.4848A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.4848A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144874760">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,30:89:99:779,0,1635:127	0/1:78,46:124:99:1230,0,2268:127	0/1:48,29:77:99:731,0,1355:127
1	144874815	.	T	C	6456.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=216;MQ=69.94;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1778155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1778155" target="_blank">rs1778155</a>;ExAC.Info.AC=51242;ExAC.Info.AN=126704;ExAC.Info.AF=0.404;ExAC.Info.AC_Het=51230;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His1734Arg/c.5201A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.4793A>G_p.His1598Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.4793A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144874815">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,22:64:99:490,0,1296:127	0/1:54,39:93:99:1083,0,1615:127	0/1:33,26:59:99:736,0,969:127
1	144875979	.	G	C	4405.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs71664005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71664005" target="_blank">rs71664005</a>;ExAC.Info.AC=24812;ExAC.Info.AN=126704;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=24810;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.43+992G>C;snpeff.Gene_Name=RP4-791M13.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-791M135" target="_blank">RP4-791M135</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000531288;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctG;snpeff.Amino_Acid_Change=p.Leu1703Leu/c.5109C>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-791M135" target="_blank">RP4-791M135</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5109C>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-791M135" target="_blank">RP4-791M135</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.4701C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.4701C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144875979">View</a>	GT:AD:DP:GQ:PL:TP	1|0:75,25:100:99:534,0,2252:127	0|0:147,0:147:99:0,442,5122:127	1|0:41,47:88:99:1372,0,1218:127
1	144879264	.	A	G	17144.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2798901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2798901" target="_blank">rs2798901</a>;ExAC.Info.AC=87167;ExAC.Info.AN=126700;ExAC.Info.AF=0.688;ExAC.Info.AC_Het=39509;ExAC.Info.AC_Hom=23807;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp1532Arg/c.4594T>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.4186T>C_p.Trp1396Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.4186T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144879264">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:2820,258,0:127	1|1:0,69:69:99:2363,207,0:127	1|1:0,56:56:99:1907,168,0:127
1	144879485	.	G	C	2353.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs113467089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113467089" target="_blank">rs113467089</a>;ExAC.Info.AC=3417;ExAC.Info.AN=126704;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=3417;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCa/aGa;snpeff.Amino_Acid_Change=p.Thr1458Arg/c.4373C>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3965C>G_p.Thr1322Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.3965C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144879485">View</a>	GT:AD:DP:GQ:PL:TP	0|1:73,14:87:99:225,0,2380:127	1|0:91,33:124:99:714,0,2682:127	0|0:90,0:90:99:0,270,3142:127
1	144880832	.	T	C	2105.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12568796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12568796" target="_blank">rs12568796</a>;ExAC.Info.AC=33574;ExAC.Info.AN=126704;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=33569;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys1402Glu/c.4204A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.3796A>G_p.Lys1266Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.3796A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144880832">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,17:51:99:403,0,1037:127	1|0:35,28:63:99:654,0,1019:127	0|0:53,0:53:99:0,159,1744:127
1	144882823	.	C	T	23037.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=775;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1698647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1698647" target="_blank">rs1698647</a>;ExAC.Info.AC=63350;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63348;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala1203Thr/c.3607G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.3196G>A_p.Ala1066Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.3196G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144882823">View</a>	GT:AD:DP:GQ:PL:TP	0/1:139,133:272:99:3448,0,4066:127	0/1:124,126:250:99:3594,0,3712:127	0/1:141,112:253:99:2999,0,4096:127
1	144886063	.	T	C	3920.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1625285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1625285" target="_blank">rs1625285</a>;ExAC.Info.AC=63293;ExAC.Info.AN=126686;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63201;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3548+34A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3137+34A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.3137+34A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144886063">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,10:21:99:267,0,378:127	0/1:20,28:48:99:790,0,546:127	0/1:17,22:39:99:666,0,410:127
1	144886092	.	C	T	5220.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1343472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1343472" target="_blank">rs1343472</a>;ExAC.Info.AC=63338;ExAC.Info.AN=126698;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63310;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3548+5G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3549G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3137+5G>A;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.3137+5G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144886092">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,17:38:99:457,0,658:127	0/1:29,36:65:99:1034,0,802:127	0/1:19,25:44:99:730,0,602:127
1	144886197	.	A	T	8811.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1698624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1698624" target="_blank">rs1698624</a>;ExAC.Info.AC=63349;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63347;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Atc;snpeff.Amino_Acid_Change=p.Phe1150Ile/c.3448T>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.3037T>A_p.Phe1013Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.3037T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144886197">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,42:72:99:1186,0,846:127	0/1:45,47:92:99:1293,0,1145:127	0/1:48,50:98:99:1380,0,1311:127
1	144892149	.	G	A	5667.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=169;MQ=69.90;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1698709;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1698709" target="_blank">rs1698709</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3315+352C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2904+352C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.2904+352C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144892149">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,29:60:99:779,0,921:127	0/1:32,23:55:99:664,0,963:127	0/1:22,32:54:99:914,0,597:127
1	144906508	.	C	T	16534.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=361;MQ=69.83;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34169189;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34169189" target="_blank">rs34169189</a>;ExAC.Info.AC=18089;ExAC.Info.AN=126698;ExAC.Info.AF=0.143;ExAC.Info.AC_Het=14950;ExAC.Info.AC_Hom=1563;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atA;snpeff.Amino_Acid_Change=p.Met920Ile/c.2760G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2349G>A_p.Met783Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.2349G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144906508">View</a>	GT:AD:DP:GQ:PL:TP	1|1:3,88:91:99:2745,183,0:127	1|0:72,79:151:99:2149,0,2005:127	1|0:68,51:119:99:1262,0,1959:127
1	144909956	.	G	A	772.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs638260;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=638260" target="_blank">rs638260</a>;ExAC.Info.AC=34562;ExAC.Info.AN=126692;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=34524;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp881Asp/c.2643C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2232C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.2232C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144909956">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1913:127	0|0:55,0:55:99:0,165,2095:127	0|1:38,15:53:99:405,0,1273:127
1	144910082	.	A	G	15985.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs638780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=638780" target="_blank">rs638780</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2639-122T>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2228-122T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.2228-122T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144910082">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2499,216,0:127	1|0:14,66:80:99:2134,0,314:127	1|1:0,74:74:99:2659,222,0:127
1	144912233	.	C	T	4919.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|P|B|P|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1629011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1629011" target="_blank">rs1629011</a>;ExAC.Info.AC=63346;ExAC.Info.AN=126702;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63337;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg818His/c.2453G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2042G>A_p.Arg681His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.2042G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144912233">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,22:53:99:554,0,895:127	0/1:47,31:78:99:824,0,1506:127	0/1:33,36:69:99:944,0,1034:127
1	144915561	.	G	A	9463.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=272;MQ=69.94;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=A;dbSNP139.ID=rs1778111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1778111" target="_blank">rs1778111</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.OMIM_ID=608117;hgmd_2014.2.PubMed=24176758;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24176758" target="_blank">24176758</a>;ExAC.Info.AC=63352;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63352;ExAC.Info.AC_Hom=0;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cga/Tga;snpeff.Amino_Acid_Change=p.Arg759*/c.2275C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;LOF=(PDE4DIP|ENSG00000178104|1|1.00);NMD=(PDE4DIP|ENSG00000178104|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1864C>T_p.Arg622X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.1864C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144915561">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,42:79:99:1140,0,1214:127	0/1:58,52:110:99:1485,0,1842:127	0/1:41,42:83:99:1238,0,1158:127
1	144916748	.	C	G	9802.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|P|D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1747930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1747930" target="_blank">rs1747930</a>;ExAC.Info.AC=63329;ExAC.Info.AN=126700;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63305;ExAC.Info.AC_Hom=0;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018G>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aCt;snpeff.Amino_Acid_Change=p.Ser673Thr/c.2018G>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1607G>C_p.Ser536Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.1607G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144916748">View</a>	GT:AD:DP:GQ:PL:TP	0/1:45,53:98:99:1464,0,1346:127	0/1:65,58:123:99:1697,0,2036:127	0/1:58,43:101:99:1221,0,1846:127
1	144917546	.	A	G	8212.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1698682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1698682" target="_blank">rs1698682</a>;ExAC.Info.AC=63352;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63352;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Tta/Cta;snpeff.Amino_Acid_Change=p.Leu657Leu/c.1969T>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1558T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.1558T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144917546">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,33:71:99:934,0,1033:127	0/1:31,41:72:99:1312,0,912:127	0/1:27,32:59:99:1044,0,842:127
1	144918957	.	T	A	14640.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=608;MQ=68.65;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1061308;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061308" target="_blank">rs1061308</a>;ExAC.Info.AC=63352;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63352;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gTa;snpeff.Amino_Acid_Change=p.Glu547Val/c.1640A>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1229A>T_p.Glu410Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.1229A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144918957">View</a>	GT:AD:DP:GQ:PL:TP	0/1:109,104:213:99:2610,0,2724:127	0/1:134,71:205:99:1626,0,3807:127	0/1:105,85:190:99:2148,0,2955:127
1	144921924	.	G	A	10196.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=811;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs71664015;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71664015" target="_blank">rs71664015</a>;ExAC.Info.AC=24833;ExAC.Info.AN=126704;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=24833;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu506Leu/c.1516C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1105C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.1105C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144921924">View</a>	GT:AD:DP:GQ:PL:TP	1|0:186,60:246:99:1243,0,6200:127	0|0:297,0:297:99:0,893,11010:127	1|0:146,122:268:99:3425,0,4597:127
1	144922109	.	A	G	28975.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=894;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1343469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1343469" target="_blank">rs1343469</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1393-62T>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.982-62T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.982-62T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144922109">View</a>	GT:AD:DP:GQ:PL:TP	0/1:128,147:275:99:4519,0,3515:127	0/1:178,161:339:99:5111,0,5068:127	0/1:159,121:280:99:3754,0,4863:127
1	144922171	.	C	T	29898.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1047;MQ=69.97;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1343470;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1343470" target="_blank">rs1343470</a>;ExAC.Info.AC=63334;ExAC.Info.AN=126698;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63294;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1392+16G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.981+16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.981+16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144922171">View</a>	GT:AD:DP:GQ:PL:TP	0/1:163,164:327:99:4581,0,4611:127	0/1:206,175:381:99:5022,0,6309:127	0/1:181,158:339:99:4514,0,5316:127
1	144922583	.	G	A	35196.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1400;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|B|P|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1359300;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1359300" target="_blank">rs1359300</a>;ExAC.Info.AC=63350;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63348;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCg/tTg;snpeff.Amino_Acid_Change=p.Ser412Leu/c.1235C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.824C>T_p.Ser275Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.824C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144922583">View</a>	GT:AD:DP:GQ:PL:TP	0/1:258,183:441:99:4631,0,7350:127	0/1:259,240:499:99:6631,0,7505:127	0/1:263,197:460:99:5552,0,7508:127
1	144923728	.	GT	G	10152.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=717;MQ=69.79;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs369106087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=369106087" target="_blank">rs369106087</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.OMIM_ID=608117;hgmd_2014.2.PubMed=23468869;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23468869" target="_blank">23468869</a>;ExAC.Info.AC=24576;ExAC.Info.AN=126704;ExAC.Info.AF=0.194;ExAC.Info.AC_Het=24576;ExAC.Info.AC_Hom=0;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=gaa/;snpeff.Amino_Acid_Change=p.Glu380fs/c.1140delA;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;LOF=(PDE4DIP|ENSG00000178104|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.729delA;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.729delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144923728">View</a>	GT:AD:DP:GQ:PL:TP	1|0:148,73:221:99:2050,0,4870:127	0|0:291,1:292:99:0,841,10829:127	1|0:119,85:204:99:2551,0,3841:127
1	144923823	.	TAGGAAGAAACGGCA	T	47389.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=594;MQ=69.71;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs11268079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11268079" target="_blank">rs11268079</a>;ExAC.Info.AC=105477;ExAC.Info.AN=126694;ExAC.Info.AF=0.833;ExAC.Info.AC_Het=21172;ExAC.Info.AC_Hom=42094;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048-16_1048-3delTGCCGTTTCTTCCT;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048_1061delTGCCGTTTCTTCCT;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.637-16_637-3del14;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.637-16_637-3del14+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144923823">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,161:161:99:7184,491,0:127	1|0:113,136:249:99:5342,0,4274:127	1|1:0,184:184:99:8161,561,0:127
1	144930571	.	C	A	4901.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2762866;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2762866" target="_blank">rs2762866</a>;ExAC.Info.AC=63341;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63326;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048-6750G>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.637-6750G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.637-6750G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144930571">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,20:56:99:514,0,1024:127	0/1:31,28:59:99:769,0,997:127	0/1:32,25:57:99:684,0,992:127
1	144930596	.	C	A	6973.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2762867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2762867" target="_blank">rs2762867</a>;ExAC.Info.AC=63350;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63347;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048-6775G>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.637-6775G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.637-6775G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144930596">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,32:71:99:903,0,1074:127	0/1:39,39:78:99:1122,0,1122:127	0/1:41,32:73:99:887,0,1268:127
1	144930940	.	T	C	18183.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=569;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2147326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2147326" target="_blank">rs2147326</a>;ExAC.Info.AC=63352;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63352;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048-7119A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.637-7119A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.637-7119A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144930940">View</a>	GT:AD:DP:GQ:PL:TP	0/1:96,76:172:99:2408,0,2583:127	0/1:123,112:235:99:3211,0,3580:127	0/1:88,74:162:99:2253,0,2528:127
1	144931087	.	T	C	750.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41315684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41315684" target="_blank">rs41315684</a>;ExAC.Info.AC=31068;ExAC.Info.AN=126704;ExAC.Info.AF=0.245;ExAC.Info.AC_Het=31035;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048-7266A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.637-7266A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.637-7266A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144931087">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,204,2450:127	0|1:73,20:93:99:394,0,2385:127	0|0:73,0:73:99:0,219,2613:127
1	144931330	.	C	T	21006.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=702;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2762745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2762745" target="_blank">rs2762745</a>;ExAC.Info.AC=63348;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63348;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048-7509G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.637-7509G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.637-7509G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144931330">View</a>	GT:AD:DP:GQ:PL:TP	0/1:97,107:204:99:2782,0,2689:127	0/1:133,124:257:99:3484,0,3871:127	0/1:128,113:241:99:3065,0,4065:127
1	144931392	.	G	A	18671.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=555;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2798893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2798893" target="_blank">rs2798893</a>;ExAC.Info.AC=63348;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63343;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048-7571C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.637-7571C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.637-7571C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144931392">View</a>	GT:AD:DP:GQ:PL:TP	0/1:80,84:164:99:2549,0,2437:127	0/1:110,107:217:99:3146,0,3331:127	0/1:95,79:174:99:2253,0,2934:127
1	144931461	.	A	T	9667.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=611;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41315685;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41315685" target="_blank">rs41315685</a>;ExAC.Info.AC=33784;ExAC.Info.AN=126704;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=33769;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048-7640T>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.637-7640T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.637-7640T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144931461">View</a>	GT:AD:DP:GQ:PL:TP	0|1:126,64:190:99:1485,0,3685:127	1|0:113,110:223:99:3255,0,3335:127	0|0:198,0:198:99:0,595,6981:127
1	144946768	.	G	A	7764.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2762733;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2762733" target="_blank">rs2762733</a>;ExAC.Info.AC=63335;ExAC.Info.AN=126678;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63317;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.930-26C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.519-26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.519-26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144946768">View</a>	GT:AD:DP:GQ:PL:TP	0/1:50,39:89:99:1048,0,1607:127	0/1:60,35:95:99:1005,0,1985:127	0/1:40,42:82:99:1280,0,1328:127
1	144952003	.	T	C	2398.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=989;MQ=63.18;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs373048093;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=373048093" target="_blank">rs373048093</a>;ExAC.Info.AC=4657;ExAC.Info.AN=126158;ExAC.Info.AF=0.037;ExAC.Info.AC_Het=4491;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.929+198A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.518+198A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.518+198A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144952003">View</a>	GT:AD:DP:GQ:PL:TP	0|1:275,45:320:99:462,0,8383:127	1|0:290,58:348:99:856,0,8767:127	0|0:321,0:321:99:0,963,10606:127
1	144952078	.	C	A	18123.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=920;MQ=59.94;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs71220421;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71220421" target="_blank">rs71220421</a>;ExAC.Info.AC=62395;ExAC.Info.AN=126384;ExAC.Info.AF=0.494;ExAC.Info.AC_Het=62116;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.929+123G>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.518+123G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.518+123G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144952078">View</a>	GT:AD:DP:GQ:PL:TP	0/1:203,116:319:99:2779,0,5782:127	0/1:203,133:336:99:3391,0,5915:127	0/1:170,95:265:99:2311,0,4877:127
1	144952207	.	C	T	7818.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=642;MQ=39.99;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3121544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3121544" target="_blank">rs3121544</a>;ExAC.Info.AC=30782;ExAC.Info.AN=126700;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=29835;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg308Lys/c.923G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.512G>A_p.Arg171Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.512G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144952207">View</a>	GT:AD:DP:GQ:PL:TP	0|1:149,38:187:99:692,0,4526:127	1|0:156,104:260:99:2629,0,4436:127	0|0:195,0:195:99:0,586,6460:127
1	144952220	.	C	T	12970.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=601;MQ=38.03;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs139438772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139438772" target="_blank">rs139438772</a>;ExAC.Info.AC=63321;ExAC.Info.AN=126700;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63307;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala304Thr/c.910G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.499G>A_p.Ala167Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.499G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144952220">View</a>	GT:AD:DP:GQ:PL:TP	0/1:101,69:170:99:1699,0,2778:127	0/1:148,102:250:99:2422,0,3969:127	0/1:114,67:181:99:1529,0,3173:127
1	144952255	.	G	C	718.54	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=500;MQ=34.57;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs148545794;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148545794" target="_blank">rs148545794</a>;ExAC.Info.AC=8861;ExAC.Info.AN=126686;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=7833;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cGa;snpeff.Amino_Acid_Change=p.Pro292Arg/c.875C>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369356;SAVANT_GENE=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=-/143.6kb/44/8.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.464C>G_p.Pro155Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+c.464C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:144952255">View</a>	GT:AD:DP:GQ:PL:TP	0|0:127,13:140:29:0,29,3573:29	0|1:188,28:216:99:241,0,5081:29	0|0:144,0:144:99:0,432,4467:29
1	145014103	.	G	C	1235.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=155;MQ=59.71;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1778711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1778711" target="_blank">rs1778711</a>;ExAC.Info.AC=7494;ExAC.Info.AN=20536;ExAC.Info.AF=0.365;ExAC.Info.AC_Het=6257;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.441+1757C>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145014103">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,10:52:99:228,0,1406:33	0/1:49,11:60:99:231,0,1580:33	0/1:39,4:43:33:33,0,1277:33
1	145014186	.	G	GA	3388.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=558;MQ=64.66;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs66593379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66593379" target="_blank">rs66593379</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.441+1674_441+1673insT;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145014186">View</a>	GT:AD:DP:GQ:PL:TP	1|0:131,59:190:99:813,0,2633:127	0|0:208,3:211:99:0,545,4989:127	1|0:103,54:157:99:828,0,2184:127
1	145014263	.	C	T	10549.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1143;MQ=63.62;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1778708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1778708" target="_blank">rs1778708</a>;ExAC.Info.AC=8449;ExAC.Info.AN=23490;ExAC.Info.AF=0.360;ExAC.Info.AC_Het=6448;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.441+1597G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145014263">View</a>	GT:AD:DP:GQ:PL:TP	0/1:269,85:354:99:1735,0,7715:127	0/1:352,76:428:99:1074,0,10111:127	0/1:257,104:361:99:2132,0,7473:127
1	145016020	.	T	G	68780.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=853;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs657162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=657162" target="_blank">rs657162</a>;ExAC.Info.AC=122329;ExAC.Info.AN=126704;ExAC.Info.AF=0.965;ExAC.Info.AC_Het=4263;ExAC.Info.AC_Hom=58865;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.290-9A>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145016020">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,284:284:99:10751,853,0:127	1|1:0,299:299:99:11511,898,0:127	1|1:0,270:270:99:10414,812,0:127
1	145016032	.	C	CA	11362.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=614;MQ=70.01;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs112952246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112952246" target="_blank">rs112952246</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.290-21_290-22insT;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145016032">View</a>	GT:AD:DP:GQ:PL:TP	0/1:103,103:206:99:2200,0,2216:127	0/1:171,57:228:99:882,0,4475:127	0/1:70,110:180:99:2571,0,1421:127
1	145018023	.	G	T	10550.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=356;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2799192;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2799192" target="_blank">rs2799192</a>;ExAC.Info.AC=12857;ExAC.Info.AN=55018;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=7285;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.290-2012C>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145018023">View</a>	GT:AD:DP:GQ:PL:TP	0/1:57,53:110:99:1546,0,1693:127	0/1:68,49:117:99:1435,0,2130:127	0/1:71,58:129:99:1720,0,2248:127
1	145021089	.	G	A	10673.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=971;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1613515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1613515" target="_blank">rs1613515</a>;ExAC.Info.AC=48789;ExAC.Info.AN=126704;ExAC.Info.AF=0.385;ExAC.Info.AC_Het=48056;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.289+23C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145021089">View</a>	GT:AD:DP:GQ:PL:TP	0/1:252,72:324:99:1459,0,8142:69	0/1:298,30:328:69:69,0,9875:69	0/1:198,121:319:99:3341,0,6785:69
1	145021150	.	T	C	8683.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1346;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11538401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11538401" target="_blank">rs11538401</a>;cosmic68.Histology_subtype=clear_cell_renal_cell_carcinoma;ExAC.Info.AC=7789;ExAC.Info.AN=126704;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=7354;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gGt;snpeff.Amino_Acid_Change=p.Asp84Gly/c.251A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145021150">View</a>	GT:AD:DP:GQ:PL:TP	1|0:341,92:433:99:1706,0,9539:127	0|0:454,1:455:99:0,1325,15240:127	1|0:355,103:458:99:2265,0,9994:127
1	145021183	.	C	A	8074.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1278;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56185836;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56185836" target="_blank">rs56185836</a>;ExAC.Info.AC=6951;ExAC.Info.AN=126704;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=6736;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234-16G>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145021183">View</a>	GT:AD:DP:GQ:PL:TP	1|0:323,81:404:99:1473,0,10294:127	0|0:443,1:444:99:0,1302,16214:127	1|0:335,95:430:99:2051,0,10620:127
1	145021265	.	A	G	2086.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=695;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs673110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=673110" target="_blank">rs673110</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234-98T>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145021265">View</a>	GT:AD:DP:GQ:PL:TP	0|1:184,28:212:99:367,0,5395:127	1|0:203,38:241:99:710,0,6461:127	0|0:242,0:242:99:0,727,8379:127
1	145038815	.	A	G	28277.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=491;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2442664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2442664" target="_blank">rs2442664</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234-17648T>C;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145038815">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,117:165:99:3417,0,1001:127	1|1:0,170:170:99:5883,511,0:127	0|1:35,121:156:99:3538,0,816:127
1	145038889	.	G	A	2026.54	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=751;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10797615;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797615" target="_blank">rs10797615</a>;ExAC.Info.AC=1372;ExAC.Info.AN=23866;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=1232;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234-17722C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145038889">View</a>	GT:AD:DP:GQ:PL:TP	0|0:238,24:262:56:0,56,7667:56	0|0:264,0:264:99:0,792,9061:56	0|1:177,48:225:99:1015,0,5609:56
1	145038952	.	C	T	22126.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=662;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1663881;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1663881" target="_blank">rs1663881</a>;ExAC.Info.AC=7832;ExAC.Info.AN=21790;ExAC.Info.AF=0.359;ExAC.Info.AC_Het=6667;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234-17785G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145038952">View</a>	GT:AD:DP:GQ:PL:TP	0/1:109,112:221:99:3618,0,3251:127	0/1:125,93:218:99:2787,0,3985:127	0/1:121,102:223:99:3335,0,3418:127
1	145038954	.	G	T	4907.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=659;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10797616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797616" target="_blank">rs10797616</a>;ExAC.Info.AC=1399;ExAC.Info.AN=23788;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=1162;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234-17787C>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145038954">View</a>	GT:AD:DP:GQ:PL:TP	0/1:163,54:217:99:982,0,6148:127	0/1:197,25:222:99:194,0,7426:127	0/1:170,50:220:99:977,0,6489:127
1	145039562	.	C	T	14401.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=477;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1663878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1663878" target="_blank">rs1663878</a>;ExAC.Info.AC=59532;ExAC.Info.AN=121356;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=58859;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234-18395G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145039562">View</a>	GT:AD:DP:GQ:PL:TP	0/1:87,58:145:99:1533,0,2550:127	0/1:109,76:185:99:2059,0,3376:127	0/1:70,77:147:99:2167,0,2163:127
1	145074939	.	T	C	8168.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=598;MQ=69.96;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1663854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1663854" target="_blank">rs1663854</a>;ExAC.Info.AC=59209;ExAC.Info.AN=120512;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=58820;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.233+691A>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145074939">View</a>	GT:AD:DP:GQ:PL:TP	0/1:162,45:207:99:944,0,4898:127	0/1:134,41:175:99:851,0,3958:127	0/1:138,78:216:99:2140,0,3926:127
1	145074975	.	G	A	3761.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=696;MQ=69.96;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbSNP139.ID=rs56128713;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56128713" target="_blank">rs56128713</a>;ExAC.Info.AC=14143;ExAC.Info.AN=121288;ExAC.Info.AF=0.117;ExAC.Info.AC_Het=13308;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.233+655C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145074975">View</a>	GT:AD:DP:GQ:PL:TP	0/1:178,57:235:99:1172,0,5153:28	0/1:195,21:216:72:72,0,5707:28	0/1:219,26:245:28:28,0,6725:28
1	145075683	.	C	T	6415.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=D;dbSNP139.ID=rs2762779;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2762779" target="_blank">rs2762779</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=24176758;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24176758" target="_blank">24176758</a>;ExAC.Info.AC=62763;ExAC.Info.AN=126428;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=62300;ExAC.Info.AC_Hom=0;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=tgG/tgA;snpeff.Amino_Acid_Change=p.Trp60*/c.180G>A;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(PDE4DIP|ENSG00000178104|1|1.00);NMD=(PDE4DIP|ENSG00000178104|1|1.00);TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145075683">View</a>	GT:AD:DP:GQ:PL:TP	0/1:80,34:114:99:861,0,2375:127	0/1:78,29:107:99:598,0,2451:127	0/1:62,45:107:99:1226,0,1752:127
1	145075775	.	G	A	525.54	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=600;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76199660;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76199660" target="_blank">rs76199660</a>;cosmic68.Histology_subtype=plasma_cell_myeloma;ExAC.Info.AC=9553;ExAC.Info.AN=126610;ExAC.Info.AF=0.075;ExAC.Info.AC_Het=9041;ExAC.Info.AC_Hom=0;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000064113;Clinvar.PhenotypeIDs=MedGen:C0025202|SNOMED_CT:2092003;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro30Ser/c.88C>T;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145075775">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000064113" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	1|0:169,25:194:99:215,0,5279:127	0|0:216,0:216:99:0,649,7805:127	1|0:168,22:190:99:175,0,5507:127
1	145075854	.	G	C	18210.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=566;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1663853;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1663853" target="_blank">rs1663853</a>;ExAC.Info.AC=62822;ExAC.Info.AN=126604;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=62443;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggG;snpeff.Amino_Acid_Change=p.Gly3Gly/c.9C>G;snpeff.Amino_Acid_length=2482;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145075854">View</a>	GT:AD:DP:GQ:PL:TP	0/1:96,75:171:99:2087,0,3008:127	0/1:115,87:202:99:2453,0,3562:127	0/1:103,90:193:99:2660,0,3023:127
1	145075903	.	C	T	790.04	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=517;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2596336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2596336" target="_blank">rs2596336</a>;ExAC.Info.AC=41929;ExAC.Info.AN=126568;ExAC.Info.AF=0.331;ExAC.Info.AC_Het=41043;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145075903">View</a>	GT:AD:DP:GQ:PL:TP	0|0:167,0:167:99:0,511,6501:28	0|1:147,26:173:99:387,0,5388:28	0|1:160,17:177:28:28,0,5648:28
1	145075923	.	C	T	10624.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6656135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6656135" target="_blank">rs6656135</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDE4DIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE4DIP" target="_blank">PDE4DIP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE4DIP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145075923">View</a>	GT:AD:DP:GQ:PL:TP	0/1:80,57:137:99:1438,0,2425:127	0/1:92,52:144:99:1463,0,3172:127	0/1:87,62:149:99:1755,0,2852:127
1	145103928	.	G	A	2918.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=1242;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2596251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2596251" target="_blank">rs2596251</a>;ExAC.Info.AC=43288;ExAC.Info.AN=124992;ExAC.Info.AF=0.346;ExAC.Info.AC_Het=41678;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.423G>A;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145103928">View</a>	GT:AD:DP:GQ:PL:TP	0|0:388,0:388:99:0,1166,14071:127	0|1:401,66:467:99:883,0,12663:127	0|1:336,51:387:99:596,0,11239:127
1	145103947	.	T	C	20315.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2794062;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794062" target="_blank">rs2794062</a>;ExAC.Info.AC=60890;ExAC.Info.AN=124942;ExAC.Info.AF=0.487;ExAC.Info.AC_Het=60375;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.442T>C;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145103947">View</a>	GT:AD:DP:GQ:PL:TP	0/1:270,119:389:99:3129,0,7439:127	0/1:311,148:459:99:4041,0,8685:127	0/1:304,118:422:99:2812,0,8665:127
1	145109493	.	C	T	525.54	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=858;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2442651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2442651" target="_blank">rs2442651</a>;ExAC.Info.AC=53504;ExAC.Info.AN=125470;ExAC.Info.AF=0.426;ExAC.Info.AC_Het=52908;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.513-31C>T;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145109493">View</a>	GT:AD:DP:GQ:PL:TP	0|0:297,0:297:99:0,895,10819:38	0|1:255,32:287:99:224,0,8672:38	0|1:250,24:274:38:38,0,8602:38
1	145109549	.	G	T	14910.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2596331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2596331" target="_blank">rs2596331</a>;ExAC.Info.AC=62243;ExAC.Info.AN=125532;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=62216;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.538G>T;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145109549">View</a>	GT:AD:DP:GQ:PL:TP	0/1:328,86:414:99:1701,0,10975:127	0/1:303,109:412:99:2629,0,10274:127	0/1:296,102:398:99:2340,0,9830:127
1	145109583	.	C	A	35621.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2794053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794053" target="_blank">rs2794053</a>;ExAC.Info.AC=62481;ExAC.Info.AN=125340;ExAC.Info.AF=0.498;ExAC.Info.AC_Het=62391;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.572C>A;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145109583">View</a>	GT:AD:DP:GQ:PL:TP	0/1:215,202:417:99:5947,0,6501:127	0/1:266,177:443:99:5243,0,8480:127	0/1:219,209:428:99:6362,0,6640:127
1	145109661	.	G	A	9685.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1320;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2655551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2655551" target="_blank">rs2655551</a>;ExAC.Info.AC=61708;ExAC.Info.AN=125388;ExAC.Info.AF=0.492;ExAC.Info.AC_Het=61627;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.650G>A;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145109661">View</a>	GT:AD:DP:GQ:PL:TP	0/1:331,100:431:99:2184,0,10425:127	0/1:388,56:444:99:676,0,12647:127	0/1:361,84:445:99:1739,0,12050:127
1	145112414	.	T	C	19107.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1333;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2590131;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2590131" target="_blank">rs2590131</a>;ExAC.Info.AC=62133;ExAC.Info.AN=125484;ExAC.Info.AF=0.495;ExAC.Info.AC_Het=61928;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.715T>C;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145112414">View</a>	GT:AD:DP:GQ:PL:TP	0/1:364,100:464:99:3095,0,14914:127	0/1:313,127:440:99:4289,0,12765:127	0/1:344,85:429:99:2416,0,14166:127
1	145112420	.	C	T	11556.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1367;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2794041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794041" target="_blank">rs2794041</a>;ExAC.Info.AC=61323;ExAC.Info.AN=125528;ExAC.Info.AF=0.489;ExAC.Info.AC_Het=60977;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.721C>T;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145112420">View</a>	GT:AD:DP:GQ:PL:TP	0/1:370,109:479:99:2425,0,12734:127	0/1:391,55:446:99:488,0,14261:127	0/1:331,111:442:99:2564,0,11622:127
1	145112428	.	C	T	18956.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1397;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2794040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794040" target="_blank">rs2794040</a>;ExAC.Info.AC=62240;ExAC.Info.AN=125594;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=62111;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.729C>T;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145112428">View</a>	GT:AD:DP:GQ:PL:TP	0/1:392,105:497:99:3135,0,15791:127	0/1:330,127:457:99:4113,0,13273:127	0/1:358,85:443:99:2476,0,14642:127
1	145112468	.	A	C	2249.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1392;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs200742331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200742331" target="_blank">rs200742331</a>;ExAC.Info.AC=10090;ExAC.Info.AN=125816;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=9374;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.769A>C;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145112468">View</a>	GT:AD:DP:GQ:PL:TP	0|1:433,57:490:99:576,0,13530:127	1|0:411,50:461:99:524,0,14000:127	0|0:441,0:441:99:0,1329,16369:127
1	145112485	.	C	T	13999.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2794039;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794039" target="_blank">rs2794039</a>;ExAC.Info.AC=62326;ExAC.Info.AN=125644;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=62250;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.786C>T;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145112485">View</a>	GT:AD:DP:GQ:PL:TP	0/1:358,84:442:99:1629,0,11347:127	0/1:330,119:449:99:2931,0,10626:127	0/1:328,97:425:99:2233,0,10572:127
1	145115810	.	A	G	46575.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1422;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2655557;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2655557" target="_blank">rs2655557</a>;ExAC.Info.AC=62479;ExAC.Info.AN=125172;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=62386;ExAC.Info.AC_Hom=5;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.896A>G;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145115810">View</a>	GT:AD:DP:GQ:PL:TP	0/1:221,271:492:99:9311,0,5936:127	0/1:313,163:476:99:4878,0,9359:127	0/1:216,238:454:99:8363,0,6433:127
1	145115815	.	A	C	2143.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1408;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs202212505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202212505" target="_blank">rs202212505</a>;ExAC.Info.AC=9599;ExAC.Info.AN=125346;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=9276;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.901A>C;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145115815">View</a>	GT:AD:DP:GQ:PL:TP	1|0:439,44:483:94:94,0,18138:94	0|0:473,0:473:99:0,1438,21870:94	1|0:405,47:452:99:475,0,17349:94
1	145115820	.	T	C	8017.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1390;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2655558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2655558" target="_blank">rs2655558</a>;ExAC.Info.AC=60943;ExAC.Info.AN=125236;ExAC.Info.AF=0.487;ExAC.Info.AC_Het=60708;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.906T>C;snpeff.Gene_Name=SEC22B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453618;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC22B" target="_blank">SEC22B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC22B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145115820">View</a>	GT:AD:DP:GQ:PL:TP	0/1:381,97:478:99:1971,0,15682:89	0/1:423,40:463:89:89,0,18314:89	0/1:360,89:449:99:1846,0,15515:89
1	145139088	.	C	CG	11944.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=147;MQ=67.18;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs150935736;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150935736" target="_blank">rs150935736</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.481-1_480+1insC;snpeff.Gene_Name=NUDT4P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT4P1" target="_blank">NUDT4P1</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000322209;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.481_482insC;snpeff.Gene_Name=NUDT4P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT4P1" target="_blank">NUDT4P1</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000322209;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.481_482insC;snpeff.Gene_Name=NUDT4P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT4P1" target="_blank">NUDT4P1</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000322209;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT4P1" target="_blank">NUDT4P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUDT4P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145139088">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1685,135,0:127	1|1:0,56:56:99:2090,169,0:127	1|1:0,47:47:99:1749,141,0:127
1	145209152	.	GGGC	G	283.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=58;MQ=54.17;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs144013425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144013425" target="_blank">rs144013425</a>;ExAC.Info.AC=9133;ExAC.Info.AN=115240;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=7574;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39702;snpeff.Amino_Acid_Change=n.-328_-330delGGC;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145209152">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,3:16:87:87,0,571:42	0|0:28,1:29:42:0,42,1242:42	1|0:10,3:13:96:96,0,438:42
1	145209191	.	G	C	78.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=60;MQ=60.62;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=2265;ExAC.Info.AN=111500;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=1350;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39666;snpeff.Amino_Acid_Change=n.-290G>C;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145209191">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,473:40	0|0:27,1:28:47:0,47,873:40	0|1:15,3:18:58:58,0,417:40
1	145209323	.	AGGCGGCGGC	A	273.74	PASS	InheritancePattern=notInChild;AC=1;AF=0.200;AN=5;DP=65;MQ=59.69;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=0/0;dbSNP139.ID=rs377675296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=377675296" target="_blank">rs377675296</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39525;snpeff.Amino_Acid_Change=n.-157_-165delGGCGGCGGC;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145209323">View</a>	GT:AD:DP:GQ:PL	./0:12,0:16:99:118,174,862	0/0:27,2:30:33:0,33,1537	0/1:15,4:19:99:102,0,846
1	145209323	.	AGGCGGCGGC	AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	273.74	PASS	InheritancePattern=deNovo;AC=1;AF=0.200;AN=5;DP=65;MQ=59.69;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=0/0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39524;snpeff.Amino_Acid_Change=n.-148_-149insGGCGGCGGCGGCGGCGGCGGC;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145209323">View</a>	GT:AD:DP:GQ:PL	0/1:12,4:16:99:118,0,429	0/0:27,1:30:33:0,59,1183	./0:15,0:19:99:102,149,780
1	145209350	.	A	AGGC	25.12	LowQual	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=77;MQ=61.81;MQ0=0;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;ExAC.Info.AC=17;ExAC.Info.AN=115236;ExAC.Info.AF=1.475e-04;ExAC.Info.AC_Het=34;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39506;snpeff.Amino_Acid_Change=n.-130_-131insGGC;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145209350">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,3:18:67:67,0,642:16	0|0:34,2:36:52:0,52,1433:16	1|0:22,1:23:0:0,35,956:16
1	145209366	.	A	G	716.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=84;MQ=62.35;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs856450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=856450" target="_blank">rs856450</a>;ExAC.Info.AC=3873;ExAC.Info.AN=115962;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=2790;ExAC.Info.AC_Hom=11;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39491;snpeff.Amino_Acid_Change=n.-115A>G;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145209366">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,2:20:30:30,0,499:30	0/1:32,5:37:99:102,0,832:30	0/1:21,6:27:99:166,0,593:30
1	145209377	.	GCC	G	166.7	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=90;MQ=60.54;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs377613596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=377613596" target="_blank">rs377613596</a>;ExAC.Info.AC=7642;ExAC.Info.AN=117702;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=7236;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39478;snpeff.Amino_Acid_Change=n.-103_-104delCC;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145209377">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,3:25:57:57,0,924:26	1|0:29,4:33:79:79,0,1205:26	0|0:30,2:32:26:0,26,1286:26
1	145209819	.	C	T	1250.0	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=318;MQ=58.71;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs860659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=860659" target="_blank">rs860659</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.-45+383C>T;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145209819">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,6:84:30:0,30,2281:30	0|1:129,13:142:80:80,0,4124:30	0|1:76,16:92:99:343,0,2500:30
1	145209869	.	A	C	2227.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=202;MQ=55.79;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs80228373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80228373" target="_blank">rs80228373</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.-45+433A>C;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145209869">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,14:56:99:455,0,1766:127	0/1:78,9:87:99:140,0,3286:127	0/1:50,9:59:99:227,0,2072:127
1	145209870	.	A	G	2227.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=203;MQ=55.74;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs76440671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76440671" target="_blank">rs76440671</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.-45+434A>G;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145209870">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,14:58:99:455,0,1766:127	0/1:77,9:86:99:140,0,3286:127	0/1:50,9:59:99:227,0,2072:127
1	145209926	.	C	G	837.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=213;MQ=56.42;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs201021906;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201021906" target="_blank">rs201021906</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.-45+490C>G;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145209926">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,13:65:99:186,0,1565:74	0|0:81,5:86:74:0,74,2768:74	1|0:50,12:62:99:140,0,1576:74
1	145248811	.	A	G	1120.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=74;MQ=34.97;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs199902817;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199902817" target="_blank">rs199902817</a>;ExAC.Info.AC=7080;ExAC.Info.AN=107458;ExAC.Info.AF=0.066;ExAC.Info.AC_Het=4404;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-44-2A>G;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369340;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.-44-2A>G;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.1A>G;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369340;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.1A>G;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;LOF=(NOTCH2NL|ENSG00000213240|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000369340;SAVANT_GENE=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=+/61.3kb/6/5.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-46A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+c.-46A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145248811">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,10:22:99:289,0,356:53	0/1:28,4:32:53:53,0,856:53	0/1:13,7:20:99:200,0,395:53
1	145273302	.	A	G	6213.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=908;MQ=57.05;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs201646101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201646101" target="_blank">rs201646101</a>;ExAC.Info.AC=46102;ExAC.Info.AN=126704;ExAC.Info.AF=0.364;ExAC.Info.AC_Het=45202;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.156A>G;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgG;snpeff.Amino_Acid_Change=p.Arg52Arg/c.156A>G;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369340;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369340;SAVANT_GENE=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=+/61.3kb/6/5.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.156A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+c.156A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145273302">View</a>	GT:AD:DP:GQ:PL:TP	0/1:261,61:322:99:1164,0,7771:127	0/1:250,38:288:99:516,0,7672:127	0/1:239,59:298:99:1125,0,7110:127
1	145273345	.	T	C	8243.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1162;MQ=63.27;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75987820;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75987820" target="_blank">rs75987820</a>;ExAC.Info.AC=50752;ExAC.Info.AN=126704;ExAC.Info.AF=0.401;ExAC.Info.AC_Het=50240;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.199T>C;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Cct;snpeff.Amino_Acid_Change=p.Ser67Pro/c.199T>C;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369340;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369340;SAVANT_GENE=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=+/61.3kb/6/5.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.199T>C_p.Ser67Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+c.199T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145273345">View</a>	GT:AD:DP:GQ:PL:TP	0/1:321,79:400:99:1656,0,9620:127	0/1:341,51:392:99:605,0,10463:127	0/1:295,75:370:99:1705,0,9141:127
1	145273431	.	A	G	1661.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1128;MQ=60.87;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17421312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17421312" target="_blank">rs17421312</a>;ExAC.Info.AC=31702;ExAC.Info.AN=126704;ExAC.Info.AF=0.250;ExAC.Info.AC_Het=31184;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.285A>G;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln95Gln/c.285A>G;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369340;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369340;SAVANT_GENE=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=+/61.3kb/6/5.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.285A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+c.285A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145273431">View</a>	GT:AD:DP:GQ:PL:TP	0|0:370,0:370:99:0,1111,12705:127	0|1:324,57:381:99:752,0,10078:127	0|0:376,1:377:99:0,1123,13169:127
1	145273473	.	T	C	6874.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=831;MQ=59.70;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs202082259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202082259" target="_blank">rs202082259</a>;ExAC.Info.AC=53728;ExAC.Info.AN=126704;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=53371;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.298+29T>C;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.298+29T>C;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369340;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369340;SAVANT_GENE=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=+/61.3kb/6/5.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.298+29T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+c.298+29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145273473">View</a>	GT:AD:DP:GQ:PL:TP	0/1:214,52:266:99:970,0,6306:127	0/1:232,45:277:99:642,0,7171:127	0/1:225,63:288:99:1311,0,6881:127
1	145281408	.	C	T	9615.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1170;MQ=56.64;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs201164506;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201164506" target="_blank">rs201164506</a>;ExAC.Info.AC=49993;ExAC.Info.AN=126704;ExAC.Info.AF=0.395;ExAC.Info.AC_Het=49440;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.338C>T;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cTc;snpeff.Amino_Acid_Change=p.Pro113Leu/c.338C>T;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369340;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369340;SAVANT_GENE=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=+/61.3kb/6/5.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.338C>T_p.Pro113Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+c.338C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145281408">View</a>	GT:AD:DP:GQ:PL:TP	0/1:278,97:375:99:2145,0,8726:127	0/1:351,54:405:99:607,0,10757:127	0/1:295,95:390:99:1931,0,8968:127
1	145281543	.	C	T	13615.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=854;MQ=60.50;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs8002;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8002" target="_blank">rs8002</a>;ExAC.Info.AC=60155;ExAC.Info.AN=126704;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=59934;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.473C>T;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aTc;snpeff.Amino_Acid_Change=p.Thr158Ile/c.473C>T;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369340;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369340;SAVANT_GENE=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=+/61.3kb/6/5.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.473C>T_p.Thr158Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+c.473C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145281543">View</a>	GT:AD:DP:GQ:PL:TP	0/1:218,80:298:99:1800,0,7188:127	0/1:186,97:283:99:2559,0,6112:127	0/1:194,79:273:99:1978,0,6457:127
1	145281613	.	C	A	8346.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=587;MQ=63.40;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12120756;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12120756" target="_blank">rs12120756</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=51303;ExAC.Info.AN=126704;ExAC.Info.AF=0.405;ExAC.Info.AC_Het=50782;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.543C>A;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agC/agA;snpeff.Amino_Acid_Change=p.Ser181Arg/c.543C>A;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369340;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369340;SAVANT_GENE=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=+/61.3kb/6/5.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.543C>A_p.Ser181Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+c.543C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145281613">View</a>	GT:AD:DP:GQ:PL:TP	0/1:169,58:227:99:1740,0,6708:127	0/1:143,29:172:99:735,0,5567:127	0/1:146,42:188:99:1251,0,5773:127
1	145281633	.	C	A	7732.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=530;MQ=63.84;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28576333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28576333" target="_blank">rs28576333</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=50220;ExAC.Info.AN=126704;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=49607;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.563C>A;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cAc;snpeff.Amino_Acid_Change=p.Pro188His/c.563C>A;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369340;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369340;SAVANT_GENE=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=+/61.3kb/6/5.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.563C>A_p.Pro188His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+c.563C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145281633">View</a>	GT:AD:DP:GQ:PL:TP	0/1:157,51:208:99:1566,0,6283:127	0/1:126,25:151:99:663,0,5075:127	0/1:135,36:171:99:1062,0,5499:127
1	145281656	.	A	T	875.01	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=510;MQ=60.68;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|D|T;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs4649852;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4649852" target="_blank">rs4649852</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=36202;ExAC.Info.AN=126704;ExAC.Info.AF=0.286;ExAC.Info.AC_Het=35384;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.586A>T;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Tcc;snpeff.Amino_Acid_Change=p.Thr196Ser/c.586A>T;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369340;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369340;SAVANT_GENE=NOTCH2NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NL" target="_blank">NOTCH2NL</a>;SAVANT_INFO=+/61.3kb/6/5.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.586A>T_p.Thr196Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOTCH2NL+c.586A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145281656">View</a>	GT:AD:DP:GQ:PL:TP	0|0:183,18:201:31:0,31,6921:31	0|1:129,24:153:99:358,0,5135:31	0|1:139,17:156:86:86,0,5570:31
1	145312716	.	C	A	260.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=41;MQ=38.63;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs200946158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200946158" target="_blank">rs200946158</a>;ExAC.Info.AC=214;ExAC.Info.AN=21648;ExAC.Info.AF=9.885e-03;ExAC.Info.AC_Het=97;ExAC.Info.AC_Hom=10;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1960+1562C>A;snpeff.Gene_Name=RP11-458D21.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000468030;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1854-618C>A;snpeff.Amino_Acid_length=3553;snpeff.Gene_Name=NBPF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-458D215" target="_blank">RP11-458D215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342960;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342960;SAVANT_GENE=NBPF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF10" target="_blank">NBPF10</a>;SAVANT_INFO=+/75.3kb/84/10.7kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1854-618C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF10+c.1854-618C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145312716">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,0:11:33:0,33,414:32	0|0:20,0:20:60:0,60,654:32	0|1:5,5:10:99:149,0,155:32
1	145415273	.	C	G	1208.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hemochromatosis|_type_2A|_602390_(3);dbSNP139.ID=rs56025621;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56025621" target="_blank">rs56025621</a>;ExAC.Info.AC=2316;ExAC.Info.AN=126702;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2245;ExAC.Info.AC_Hom=34;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.98-6C>G;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=HFE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFE2" target="_blank">HFE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336751;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98C>G;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=HFE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFE2" target="_blank">HFE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336751;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98C>G;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=HFE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFE2" target="_blank">HFE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336751;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98C>G;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=HFE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFE2" target="_blank">HFE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336751;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336751;SAVANT_GENE=HFE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFE2" target="_blank">HFE2</a>;SAVANT_INFO=+/4.3kb/4/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.98-6C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HFE2+c.98-6C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145415273">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1858:127	0|1:38,23:61:99:623,0,1122:127	0|0:82,0:82:99:0,246,2765:127
1	145438578	.	C	A	8618.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs833392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=833392" target="_blank">rs833392</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=225;snpeff.Amino_Acid_Change=c.-225C>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TXNIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNIP" target="_blank">TXNIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369317;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369317;SAVANT_GENE=TXNIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TXNIP" target="_blank">TXNIP</a>;SAVANT_INFO=+/4.2kb/8/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-225C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TXNIP+c.-225C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145438578">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1282,105,0:119	1|1:0,53:53:99:1758,159,0:119	1|1:0,40:40:99:1340,120,0:119
1	145456732	.	GA	G	3124.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=349;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs375314716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=375314716" target="_blank">rs375314716</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.571-10delT;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=POLR3GL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3GL" target="_blank">POLR3GL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369314;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571delA;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=POLR3GL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3GL" target="_blank">POLR3GL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369314;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571delA;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=POLR3GL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3GL" target="_blank">POLR3GL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369314;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571delA;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=POLR3GL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3GL" target="_blank">POLR3GL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369314;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369314;SAVANT_GENE=POLR3GL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3GL" target="_blank">POLR3GL</a>;SAVANT_INFO=-/14.2kb/8/1.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.571-10delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=POLR3GL+c.571-10delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145456732">View</a>	GT:AD:DP:GQ:PL:TP	0/1:81,31:112:99:387,0,1726:127	0/1:87,44:131:99:579,0,1798:127	0/1:77,29:106:99:326,0,1638:127
1	145473837	.	A	C	44.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=12;ExAC.Info.AN=126700;ExAC.Info.AF=9.471e-05;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gCc;snpeff.Amino_Acid_Change=p.Asp170Ala/c.509A>C;snpeff.Amino_Acid_length=496;snpeff.Gene_Name=ANKRD34A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD34A" target="_blank">ANKRD34A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323397;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323397;SAVANT_GENE=ANKRD34A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD34A" target="_blank">ANKRD34A</a>;SAVANT_INFO=+/5.1kb/4/3.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.509A>C_p.Asp170Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD34A+c.509A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145473837">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,11:66:86:0,86,1663:41	0|1:79,25:104:41:41,0,2347:41	0|0:61,12:73:95:0,95,1880:41
1	145507826	.	A	T	8427.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Thrombocytopenia-absent_radius_syndrome|_274000_(3)|Thrombocytopenia-absent_radius_syndrome|_274000_(3);dbSNP139.ID=rs872786;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=872786" target="_blank">rs872786</a>;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000097479;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.32T>A;snpeff.Gene_Name=RP11-315I20.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-315I201" target="_blank">RP11-315I201</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000598354;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.67+93A>T;snpeff.Amino_Acid_length=174;snpeff.Gene_Name=RBM8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-315I201" target="_blank">RP11-315I201</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330165;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330165;SAVANT_GENE=RBM8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM8A" target="_blank">RBM8A</a>;SAVANT_INFO=+/3.8kb/6/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.67+93A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM8A+c.67+93A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145507826">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000097479" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:923,81,0:80	1|1:0,54:54:99:1874,162,0:80	1|0:10,14:24:99:442,0,312:80
1	145515696	.	A	T	1824.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Thrombocytopenia-absent_radius_syndrome|_274000_(3)|Thrombocytopenia-absent_radius_syndrome|_274000_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72701872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72701872" target="_blank">rs72701872</a>;ExAC.Info.AC=55;ExAC.Info.AN=44800;ExAC.Info.AF=1.228e-03;ExAC.Info.AC_Het=32;ExAC.Info.AC_Hom=2;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.381T>A;snpeff.Gene_Name=GNRHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNRHR2" target="_blank">GNRHR2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000312753;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361928;SAVANT_GENE=GNRHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNRHR2" target="_blank">GNRHR2</a>;SAVANT_INFO=-/6.0kb/4/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.2T>A_p.Met1?;SAVANT_EFFECT=START_LOSS;SAVANT_IMPACT=HIGH;SAVANT_CLASS=IM;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNRHR2+c.2T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145515696">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,8:25:99:240,0,558:127	0|0:46,0:46:99:0,138,1560:127	1|0:21,10:31:99:280,0,606:127
1	145532052	.	A	G	63.26	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=80;MQ=69.73;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs28369274;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28369274" target="_blank">rs28369274</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.759-63A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" 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target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002T>C;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002T>C;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002T>C;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002T>C;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002T>C;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002T>C;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002T>C;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002T>C;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002T>C;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002T>C;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe334Phe/c.1002T>C;snpeff.Amino_Acid_length=1167;snpeff.Gene_Name=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369304;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369304;SAVANT_GENE=ITGA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA10" target="_blank">ITGA10</a>;SAVANT_INFO=+/19.0kb/30/5.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1002T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGA10+c.1002T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145532549">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3360,288,0:127	1|1:0,123:123:99:4337,370,0:127	1|1:0,112:112:99:3940,336,0:127
1	145555653	.	C	T	25819.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=451;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs6424379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6424379" target="_blank">rs6424379</a>;ExAC.Info.AC=63374;ExAC.Info.AN=126200;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=28259;ExAC.Info.AC_Hom=16029;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.40-39C>T;snpeff.Amino_Acid_length=1001;snpeff.Gene_Name=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355594;SAVANT_GENE=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;SAVANT_INFO=+/19.3kb/14/3.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.40-39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD35+c.40-39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145555653">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,130:130:99:4884,391,0:127	1|0:90,87:177:99:2759,0,2883:127	1|0:81,63:144:99:1988,0,2647:127
1	145558824	.	A	C	2216.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=235;MQ=69.96;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17352281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17352281" target="_blank">rs17352281</a>;ExAC.Info.AC=44496;ExAC.Info.AN=126688;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=27689;ExAC.Info.AC_Hom=8351;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.454-11A>C;snpeff.Amino_Acid_length=1001;snpeff.Gene_Name=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355594;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355594;SAVANT_GENE=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;SAVANT_INFO=+/19.3kb/14/3.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.454-11A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD35+c.454-11A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145558824">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2625:127	0|1:45,38:83:99:1127,0,1370:127	0|0:72,0:72:99:0,216,2558:127
1	145561116	.	G	A	3878.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11578772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11578772" target="_blank">rs11578772</a>;ExAC.Info.AC=11888;ExAC.Info.AN=126698;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=10192;ExAC.Info.AC_Hom=829;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln268Gln/c.804G>A;snpeff.Amino_Acid_length=1001;snpeff.Gene_Name=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355594;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355594;SAVANT_GENE=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;SAVANT_INFO=+/19.3kb/14/3.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.804G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD35+c.804G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145561116">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,21:36:99:666,0,457:127	0/1:13,23:36:99:708,0,431:127	0/1:23,11:34:99:309,0,686:127
1	145561594	.	C	T	4836.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=511;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6670984;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6670984" target="_blank">rs6670984</a>;ExAC.Info.AC=57953;ExAC.Info.AN=126702;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=29408;ExAC.Info.AC_Hom=14205;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro428Ser/c.1282C>T;snpeff.Amino_Acid_length=1001;snpeff.Gene_Name=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355594;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355594;SAVANT_GENE=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;SAVANT_INFO=+/19.3kb/14/3.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1282C>T_p.Pro428Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD35+c.1282C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145561594">View</a>	GT:AD:DP:GQ:PL:TP	0|0:167,0:167:99:0,502,5870:127	0|0:208,0:208:99:0,625,7284:127	0|1:51,85:136:99:2437,0,1508:127
1	145562087	.	G	A	9111.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=356;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41315701;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41315701" target="_blank">rs41315701</a>;ExAC.Info.AC=22193;ExAC.Info.AN=126640;ExAC.Info.AF=0.175;ExAC.Info.AC_Het=17473;ExAC.Info.AC_Hom=2268;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg592Gln/c.1775G>A;snpeff.Amino_Acid_length=1001;snpeff.Gene_Name=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355594;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355594;SAVANT_GENE=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;SAVANT_INFO=+/19.3kb/14/3.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1775G>A_p.Arg592Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD35+c.1775G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145562087">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,63:121:99:1896,0,1689:127	1|0:60,67:127:99:2050,0,1784:127	0|0:108,0:108:99:0,325,3883:127
1	145562293	.	G	C	24701.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11579366;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11579366" target="_blank">rs11579366</a>;ExAC.Info.AC=64155;ExAC.Info.AN=126664;ExAC.Info.AF=0.506;ExAC.Info.AC_Het=28228;ExAC.Info.AC_Hom=17859;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1981G>C;snpeff.Amino_Acid_length=1001;snpeff.Gene_Name=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355594;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Cag;snpeff.Amino_Acid_Change=p.Glu661Gln/c.1981G>C;snpeff.Amino_Acid_length=1001;snpeff.Gene_Name=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355594;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355594;SAVANT_GENE=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;SAVANT_INFO=+/19.3kb/14/3.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1981G>C_p.Glu661Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD35+c.1981G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145562293">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:4126,331,0:127	1|1:0,116:116:99:4313,349,0:127	1|0:61,60:121:99:1733,0,1945:127
1	145562881	.	T	C	1970.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10910824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10910824" target="_blank">rs10910824</a>;ExAC.Info.AC=60947;ExAC.Info.AN=126254;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=27770;ExAC.Info.AC_Hom=14227;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2569T>C;snpeff.Amino_Acid_length=1001;snpeff.Gene_Name=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355594;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2569T>C;snpeff.Amino_Acid_length=1001;snpeff.Gene_Name=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355594;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2569T>C;snpeff.Amino_Acid_length=1001;snpeff.Gene_Name=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355594;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu857Leu/c.2569T>C;snpeff.Amino_Acid_length=1001;snpeff.Gene_Name=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355594;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355594;SAVANT_GENE=ANKRD35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD35" target="_blank">ANKRD35</a>;SAVANT_INFO=+/19.3kb/14/3.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.2569T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD35+c.2569T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145562881">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2205:127	0|0:68,0:68:99:0,204,2375:127	0|1:26,32:58:99:1004,0,743:127
1	145585317	.	A	G	12890.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4128488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4128488" target="_blank">rs4128488</a>;ExAC.Info.AC=123153;ExAC.Info.AN=126134;ExAC.Info.AF=0.976;ExAC.Info.AC_Het=2182;ExAC.Info.AC_Hom=56570;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1621-39A>G;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=PIAS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIAS3" target="_blank">PIAS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000393045;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000393045;SAVANT_GENE=PIAS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIAS3" target="_blank">PIAS3</a>;SAVANT_INFO=+/10.6kb/14/2.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1621-39A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIAS3+c.1621-39A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145585317">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:1957,183,0:127	1|1:0,62:62:99:2091,186,0:127	1|1:0,44:44:99:1530,132,0:127
1	145588536	.	C	T	12658.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9286836;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9286836" target="_blank">rs9286836</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.403-66G>A;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=NUDT17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT17" target="_blank">NUDT17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334513;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Nudix_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.403C>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=NUDT17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT17" target="_blank">NUDT17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334513;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Nudix_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.403C>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=NUDT17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT17" target="_blank">NUDT17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334513;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Nudix_hydrolase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.403C>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=NUDT17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT17" target="_blank">NUDT17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334513;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Nudix_hydrolase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.403C>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=NUDT17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT17" target="_blank">NUDT17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334513;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Nudix_hydrolase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.403C>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=NUDT17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT17" target="_blank">NUDT17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334513;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Nudix_hydrolase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.403C>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=NUDT17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT17" target="_blank">NUDT17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334513;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Nudix_hydrolase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.403C>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=NUDT17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT17" target="_blank">NUDT17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334513;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334513;SAVANT_GENE=NUDT17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT17" target="_blank">NUDT17</a>;SAVANT_INFO=-/3.3kb/8/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.403-66G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUDT17+c.403-66G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145588536">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,38:93:99:1102,0,1637:127	0/1:63,73:136:99:2194,0,1866:127	0/1:45,73:118:99:2053,0,1294:127
1	145597417	.	C	A	3865.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9728345;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9728345" target="_blank">rs9728345</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1070+97G>T;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=POLR3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3C" target="_blank">POLR3C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334163;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071C>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=POLR3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3C" target="_blank">POLR3C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334163;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071C>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=POLR3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3C" target="_blank">POLR3C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334163;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334163;SAVANT_GENE=POLR3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3C" target="_blank">POLR3C</a>;SAVANT_INFO=-/18.3kb/15/1.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1070+97G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POLR3C+c.1070+97G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145597417">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,27:54:99:756,0,751:127	0/1:28,20:48:99:530,0,816:127	0/1:26,25:51:99:658,0,792:127
1	145601861	.	G	A	23289.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs9286837;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9286837" target="_blank">rs9286837</a>;ExAC.Info.AC=125544;ExAC.Info.AN=126664;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=1000;ExAC.Info.AC_Hom=61892;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.679-9C>T;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=POLR3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3C" target="_blank">POLR3C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334163;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334163;SAVANT_GENE=POLR3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3C" target="_blank">POLR3C</a>;SAVANT_INFO=-/18.3kb/15/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.679-9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POLR3C+c.679-9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145601861">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2903,241,0:127	1|1:0,104:104:99:3542,313,0:127	1|1:0,102:102:99:3463,307,0:127
1	145610541	.	A	C	63.62	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;ExAC.Info.AC=3;ExAC.Info.AN=84076;ExAC.Info.AF=3.568e-05;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-21+203T>G;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=POLR3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3C" target="_blank">POLR3C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334163;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334163;SAVANT_GENE=POLR3C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR3C" target="_blank">POLR3C</a>;SAVANT_INFO=-/18.3kb/15/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-1205T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POLR3C+c.-1205T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145610541">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,34:116:57:57,0,2260:27	0|0:84,31:115:28:0,28,2369:27	1|0:78,25:103:23:23,0,2193:27
1	145696694	.	G	A	10605.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=383;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2231375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2231375" target="_blank">rs2231375</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.539-94C>T;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=CD160;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD160" target="_blank">CD160</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401557;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.539G>A;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=CD160;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD160" target="_blank">CD160</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401557;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.539G>A;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=CD160;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD160" target="_blank">CD160</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000401557;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235933;SAVANT_GENE=CD160;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD160" target="_blank">CD160</a>;SAVANT_INFO=-/11.1kb/4/1.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.539-94C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD160+c.539-94C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:145696694">View</a>	GT:AD:DP:GQ:PL:TP	0/1:65,49:114:99:1251,0,1845:127	0/1:69,71:140:99:1909,0,2002:127	0/1:69,60:129:99:1608,0,2119:127
1	146514576	.	T	C	12123.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=585;MQ=63.98;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs34026136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34026136" target="_blank">rs34026136</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2697A>G;snpeff.Gene_Name=NBPF13P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF13P" target="_blank">NBPF13P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444082;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF13P" target="_blank">NBPF13P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF13P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146514576">View</a>	GT:AD:DP:GQ:PL:TP	1|0:99,85:184:99:2318,0,2758:127	0|0:211,0:211:99:0,633,7081:127	1|0:88,102:190:99:3060,0,2485:127
1	146643495	.	C	A	1708.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72708505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72708505" target="_blank">rs72708505</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.156+73G>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=PRKAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAB2" target="_blank">PRKAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254101;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254101;SAVANT_GENE=PRKAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAB2" target="_blank">PRKAB2</a>;SAVANT_INFO=-/17.4kb/8/5.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.156+73G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKAB2+c.156+73G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146643495">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,14:36:99:323,0,666:101	1|0:28,15:43:99:342,0,893:101	0|0:34,0:34:99:0,102,1182:101
1	146643555	.	A	G	5499.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1348316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1348316" target="_blank">rs1348316</a>;ExAC.Info.AC=60536;ExAC.Info.AN=125476;ExAC.Info.AF=0.482;ExAC.Info.AC_Het=21225;ExAC.Info.AC_Hom=10893;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.156+13T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=PRKAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAB2" target="_blank">PRKAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254101;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254101;SAVANT_GENE=PRKAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAB2" target="_blank">PRKAB2</a>;SAVANT_INFO=-/17.4kb/8/5.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.156+13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKAB2+c.156+13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146643555">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,17:44:99:387,0,728:127	1|1:0,45:45:99:1527,135,0:127	0|1:19,22:41:99:591,0,559:127
1	146643580	.	G	A	1570.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34838459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34838459" target="_blank">rs34838459</a>;ExAC.Info.AC=3528;ExAC.Info.AN=126274;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=2692;ExAC.Info.AC_Hom=69;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu48Leu/c.144C>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=PRKAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAB2" target="_blank">PRKAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254101;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254101;SAVANT_GENE=PRKAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKAB2" target="_blank">PRKAB2</a>;SAVANT_INFO=-/17.4kb/8/5.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.144C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKAB2+c.144C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146643580">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,11:31:99:257,0,676:120	1|0:25,12:37:99:265,0,799:120	0|0:40,0:40:99:0,120,1269:120
1	146649777	.	G	A	10013.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs112196423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112196423" target="_blank">rs112196423</a>;ExAC.Info.AC=4181;ExAC.Info.AN=126678;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=3882;ExAC.Info.AC_Hom=115;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.86G>A;snpeff.Gene_Name=PDIA3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000471856;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+3613G>A;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.350+3613G>A;snpeff.Gene_Name=RP11-337C18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607149;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDIA3P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146649777">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,55:119:99:1530,0,1788:127	1|0:76,65:141:99:1827,0,2398:127	0|0:167,0:167:99:0,502,5764:127
1	146650312	.	G	A	14685.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=621;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72708527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72708527" target="_blank">rs72708527</a>;ExAC.Info.AC=4376;ExAC.Info.AN=126700;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=4110;ExAC.Info.AC_Hom=133;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.621G>A;snpeff.Gene_Name=PDIA3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000471856;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+4148G>A;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.350+4148G>A;snpeff.Gene_Name=RP11-337C18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607149;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDIA3P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146650312">View</a>	GT:AD:DP:GQ:PL:TP	0|1:105,112:217:99:3119,0,2774:127	1|0:91,119:210:99:3470,0,2686:127	0|0:194,0:194:99:0,583,6752:127
1	146650363	.	T	A	13228.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=573;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17159909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17159909" target="_blank">rs17159909</a>;ExAC.Info.AC=4414;ExAC.Info.AN=126702;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=4147;ExAC.Info.AC_Hom=133;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.672T>A;snpeff.Gene_Name=PDIA3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000471856;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+4199T>A;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.350+4199T>A;snpeff.Gene_Name=RP11-337C18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607149;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDIA3P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146650363">View</a>	GT:AD:DP:GQ:PL:TP	0|1:92,105:197:99:2992,0,2504:127	1|0:94,105:199:99:3195,0,2751:127	0|0:177,0:177:99:0,532,6277:127
1	146650542	.	A	G	11966.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=617;MQ=69.73;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs62623395;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62623395" target="_blank">rs62623395</a>;ExAC.Info.AC=4376;ExAC.Info.AN=126704;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=4110;ExAC.Info.AC_Hom=133;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.851A>G;snpeff.Gene_Name=PDIA3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000471856;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+4378A>G;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.350+4378A>G;snpeff.Gene_Name=RP11-337C18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607149;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDIA3P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146650542">View</a>	GT:AD:DP:GQ:PL:TP	0|1:101,81:182:99:2183,0,2754:127	1|0:135,96:231:99:2713,0,3941:127	0|0:204,0:204:99:0,613,6792:127
1	146650723	.	G	A	13949.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=685;MQ=69.89;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs62623392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62623392" target="_blank">rs62623392</a>;ExAC.Info.AC=4376;ExAC.Info.AN=126704;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=4112;ExAC.Info.AC_Hom=133;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1032G>A;snpeff.Gene_Name=PDIA3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000471856;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+4559G>A;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.350+4559G>A;snpeff.Gene_Name=RP11-337C18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607149;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDIA3P" target="_blank">PDIA3P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDIA3P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146650723">View</a>	GT:AD:DP:GQ:PL:TP	0|1:119,104:223:99:2827,0,3471:127	1|0:122,103:225:99:3118,0,3580:127	0|0:237,0:237:99:0,712,8159:127
1	146656040	.	T	C	11466.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=664;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72708553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72708553" target="_blank">rs72708553</a>;ExAC.Info.AC=1132;ExAC.Info.AN=24468;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=874;ExAC.Info.AC_Hom=31;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+9876T>C;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.350+9876T>C;snpeff.Gene_Name=RP11-337C18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607149;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146656040">View</a>	GT:AD:DP:GQ:PL:TP	0|1:114,83:197:99:2368,0,2963:127	1|0:146,99:245:99:3007,0,4120:127	0|0:222,0:222:99:0,667,7444:127
1	146656097	.	C	T	12092.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=695;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72708554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72708554" target="_blank">rs72708554</a>;ExAC.Info.AC=1232;ExAC.Info.AN=24354;ExAC.Info.AF=0.051;ExAC.Info.AC_Het=1123;ExAC.Info.AC_Hom=44;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+9933C>T;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.350+9933C>T;snpeff.Gene_Name=RP11-337C18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607149;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146656097">View</a>	GT:AD:DP:GQ:PL:TP	0|1:120,86:206:99:2205,0,3449:127	1|0:146,104:250:99:3072,0,4142:127	0|0:239,0:239:99:0,718,7874:127
1	146656292	.	A	G	5689.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4950385;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4950385" target="_blank">rs4950385</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+10128A>G;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.350+10128A>G;snpeff.Gene_Name=RP11-337C18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607149;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146656292">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,19:39:99:587,0,501:123	0|1:25,18:43:99:577,0,663:123	1|1:0,41:41:99:1525,123,0:123
1	146672906	.	C	T	24456.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=585;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs894469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=894469" target="_blank">rs894469</a>;ExAC.Info.AC=116765;ExAC.Info.AN=126702;ExAC.Info.AF=0.922;ExAC.Info.AC_Het=8941;ExAC.Info.AC_Hom=53891;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+26742C>T;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-337C1810" target="_blank">RP11-337C1810</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.351-1993C>T;snpeff.Gene_Name=RP11-337C18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-337C1810" target="_blank">RP11-337C1810</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607149;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro337Pro/c.1011G>A;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-337C1810" target="_blank">RP11-337C1810</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254090;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254090;SAVANT_GENE=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;SAVANT_INFO=-/39.4kb/9/2.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1011G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO5+c.1011G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146672906">View</a>	GT:AD:DP:GQ:PL:TP	1|0:83,80:163:99:2161,0,2600:127	0|1:143,110:253:99:3083,0,4360:127	1|1:0,169:169:99:5902,508,0:127
1	146680334	.	G	A	3259.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6674643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6674643" target="_blank">rs6674643</a>;ExAC.Info.AC=4128;ExAC.Info.AN=126628;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=3402;ExAC.Info.AC_Hom=106;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.451-856G>A;snpeff.Gene_Name=RP11-337C18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-337C188" target="_blank">RP11-337C188</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607149;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.830+80C>T;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-337C188" target="_blank">RP11-337C188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254090;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+34170G>A;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-337C188" target="_blank">RP11-337C188</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254090;SAVANT_GENE=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;SAVANT_INFO=-/39.4kb/9/2.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.830+80C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO5+c.830+80C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146680334">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,19:50:99:477,0,883:127	1|0:27,30:57:99:787,0,771:127	0|0:44,0:44:99:0,132,1665:127
1	146680394	.	C	T	7430.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6684454;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6684454" target="_blank">rs6684454</a>;ExAC.Info.AC=4375;ExAC.Info.AN=126696;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=4105;ExAC.Info.AC_Hom=134;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.451-796C>T;snpeff.Gene_Name=RP11-337C18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-337C188" target="_blank">RP11-337C188</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607149;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.830+20G>A;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-337C188" target="_blank">RP11-337C188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254090;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+34230C>T;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-337C188" target="_blank">RP11-337C188</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254090;SAVANT_GENE=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;SAVANT_INFO=-/39.4kb/9/2.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.830+20G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO5+c.830+20G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146680394">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,57:108:99:1683,0,1660:127	1|0:57,57:114:99:1710,0,1916:127	0|0:110,0:110:99:0,331,3933:127
1	146683888	.	G	A	7804.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=315;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs28381188;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28381188" target="_blank">rs28381188</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.630+73C>T;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254090;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.536+37724G>A;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254090;SAVANT_GENE=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;SAVANT_INFO=-/39.4kb/9/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.630+73C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO5+c.630+73C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146683888">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,53:105:99:1481,0,1582:127	1|0:57,68:125:99:2013,0,1596:127	0|0:85,0:85:99:0,256,3193:127
1	146696435	.	A	G	7915.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17356031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17356031" target="_blank">rs17356031</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.135+52T>C;snpeff.Amino_Acid_length=533;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254090;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.537-27843A>G;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254090;SAVANT_GENE=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;SAVANT_INFO=-/39.4kb/9/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.135+52T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO5+c.135+52T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146696435">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,59:130:99:1606,0,1940:127	1|0:89,72:161:99:1890,0,2800:127	0|0:128,0:128:99:0,384,4676:127
1	146714392	.	G	T	2585.3	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=74;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=0/0;dbSNP139.ID=rs1890042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1890042" target="_blank">rs1890042</a>;ExAC.Info.AC=20249;ExAC.Info.AN=94738;ExAC.Info.AF=0.214;ExAC.Info.AC_Het=7637;ExAC.Info.AC_Hom=4162;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.537-9886G>T;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcT;snpeff.Amino_Acid_Change=p.Ala13Ala/c.39G>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.39G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.39G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146714392">View</a>	GT:AD:DP:GQ:PL	./0:11,0:26:99:448,481,774	0/0:34,0:34:99:0,102,1075	./1:0,8:14:99:500,233,208
1	146714392	.	G	C	2585.3	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=74;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=0/0;dbSNP139.ID=rs1890042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1890042" target="_blank">rs1890042</a>;ExAC.Info.AC=50595;ExAC.Info.AN=94738;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=7637;ExAC.Info.AC_Hom=4162;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.537-9886G>C;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcC;snpeff.Amino_Acid_Change=p.Ala13Ala/c.39G>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.39G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.39G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146714392">View</a>	GT:AD:DP:GQ:PL	0/1:11,15:26:99:448,0,248	0/0:34,0:34:99:0,102,1069	./1:0,6:14:99:500,265,245
1	146714427	.	G	C	5152.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11588753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11588753" target="_blank">rs11588753</a>;ExAC.Info.AC=9221;ExAC.Info.AN=111858;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=3740;ExAC.Info.AC_Hom=304;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.537-9851G>C;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cCa;snpeff.Amino_Acid_Change=p.Arg25Pro/c.74G>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO5" target="_blank">FMO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.74G>C_p.Arg25Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.74G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146714427">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,18:34:99:509,0,413:86	1|1:0,38:38:99:1336,114,0:86	0|0:29,0:29:87:0,87,970:86
1	146724003	.	A	G	7158.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3820130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820130" target="_blank">rs3820130</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.128-275A>G;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.537-275A>G;snpeff.Gene_Name=RP11-337C18.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606856;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.128-275A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.128-275A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146724003">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,27:50:99:719,0,560:127	1|1:0,69:69:99:2485,207,0:127	0|0:60,0:60:99:0,180,2257:127
1	146724408	.	G	A	20484.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=513;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3737845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737845" target="_blank">rs3737845</a>;ExAC.Info.AC=13682;ExAC.Info.AN=126634;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=11921;ExAC.Info.AC_Hom=801;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.240+18G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.241G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.241G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.241G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.241G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.241G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.241G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.240+18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.240+18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146724408">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,69:148:99:2098,0,2464:127	1|1:0,198:198:99:7307,595,0:127	0|0:167,0:167:99:0,502,6202:127
1	146728162	.	T	TA	16402.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs61409326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61409326" target="_blank">rs61409326</a>;ExAC.Info.AC=122428;ExAC.Info.AN=126676;ExAC.Info.AF=0.966;ExAC.Info.AC_Het=4079;ExAC.Info.AC_Hom=59091;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.463-22_463-21insA;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463_464insA;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463_464insA;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463_464insA;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463_464insA;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463_464insA;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463_464insA;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.463-22dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.463-22dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146728162">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1832,147,0:127	1|1:0,85:85:99:3134,256,0:127	1|1:0,51:51:99:1941,156,0:127
1	146736092	.	C	T	1756.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4950315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4950315" target="_blank">rs4950315</a>;ExAC.Info.AC=25608;ExAC.Info.AN=126510;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=18485;ExAC.Info.AC_Hom=2601;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588C>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588C>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588C>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588C>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588C>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588C>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val196Val/c.588C>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.588C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.588C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146736092">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2608:127	0|0:90,0:90:99:0,270,3231:127	0|1:30,30:60:99:897,0,898:127
1	146740502	.	C	G	4202.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17356233;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17356233" target="_blank">rs17356233</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Lung_cancer|_susceptibility_to|_association_with;hgmd_2014.2.PubMed=16741161;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16741161" target="_blank">16741161</a>;ExAC.Info.AC=26244;ExAC.Info.AN=126698;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=20217;ExAC.Info.AC_Hom=3000;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caC/caG;snpeff.Amino_Acid_Change=p.His350Gln/c.1050C>G;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1050C>G_p.His350Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.1050C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146740502">View</a>	GT:AD:DP:GQ:PL:TP	0|0:114,0:114:99:0,346,4191:127	0|0:128,0:128:99:0,384,4655:127	0|1:43,67:110:99:2120,0,1226:127
1	146740576	.	G	A	16324.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=499;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11576360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11576360" target="_blank">rs11576360</a>;ExAC.Info.AC=102809;ExAC.Info.AN=126484;ExAC.Info.AF=0.813;ExAC.Info.AC_Het=16927;ExAC.Info.AC_Hom=39496;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1085+39G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1085+39G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.1085+39G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146740576">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,62:135:99:1517,0,2069:127	0|0:200,0:200:99:0,601,6846:127	1|1:0,164:164:99:5295,492,0:127
1	146747153	.	T	C	8476.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs6680778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6680778" target="_blank">rs6680778</a>;ExAC.Info.AC=102183;ExAC.Info.AN=126686;ExAC.Info.AF=0.807;ExAC.Info.AC_Het=18714;ExAC.Info.AC_Hom=41611;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1385+22T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1386T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1386T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1386T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1386T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1386T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1385+22T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.1385+22T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146747153">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,31:66:99:863,0,973:127	0|0:64,0:64:99:0,192,2217:127	1|1:1,72:73:99:2695,182,0:127
1	146751782	.	A	C	37218.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7547279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7547279" target="_blank">rs7547279</a>;ExAC.Info.AC=122350;ExAC.Info.AN=126692;ExAC.Info.AF=0.966;ExAC.Info.AC_Het=4163;ExAC.Info.AC_Hom=59049;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atA/atC;snpeff.Amino_Acid_Change=p.Ile541Ile/c.1623A>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1623A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.1623A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146751782">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,140:140:99:4848,420,0:127	1|1:0,182:182:99:6293,546,0:127	1|1:0,134:134:99:4755,403,0:127
1	146756222	.	AAAAC	A	5576.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs146052781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146052781" target="_blank">rs146052781</a>;ExAC.Info.AC=40617;ExAC.Info.AN=126290;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=24955;ExAC.Info.AC_Hom=6084;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1854+51_1854+54delAAAC;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1854+62_1854+65delCAAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.1854+62_1854+65delCAAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146756222">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,30:59:99:1144,0,1455:127	0|0:81,0:81:99:0,242,4574:127	1|0:32,35:67:99:1367,0,1673:127
1	146757923	.	G	A	12949.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=403;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs9661159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9661159" target="_blank">rs9661159</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2019-52G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2019G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2019G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2019-52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.2019-52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146757923">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,59:123:99:1520,0,1910:127	1|1:1,132:133:99:4695,365,0:127	0|0:147,0:147:99:0,441,4943:127
1	146759306	.	T	C	984.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6703892;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6703892" target="_blank">rs6703892</a>;ExAC.Info.AC=26171;ExAC.Info.AN=126672;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=20075;ExAC.Info.AC_Hom=2941;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2222-8T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2222T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2222T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2222T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2222T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2222T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2222T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2222T>C;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2222-8T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.2222-8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146759306">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1801:127	0|0:48,0:48:99:0,144,1776:127	0|1:33,17:50:99:511,0,1025:127
1	146759320	.	C	G	7092.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275249;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275249" target="_blank">rs2275249</a>;ExAC.Info.AC=13156;ExAC.Info.AN=126698;ExAC.Info.AF=0.104;ExAC.Info.AC_Het=11560;ExAC.Info.AC_Hom=779;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2228C>G;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2228C>G;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2228C>G;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2228C>G;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2228C>G;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2228C>G;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCt/tGt;snpeff.Amino_Acid_Change=p.Ser743Cys/c.2228C>G;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2228C>G_p.Ser743Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.2228C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146759320">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,33:59:99:1015,0,807:127	1|1:1,58:59:99:2202,133,0:127	0|0:60,0:60:99:0,180,2241:127
1	146763089	.	G	A	17596.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10900333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10900333" target="_blank">rs10900333</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2321-75G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2321G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2321G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2321G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2321G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2321G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2321G>A;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2321-75G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.2321-75G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146763089">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2462,210,0:127	1|1:0,96:96:99:3357,289,0:127	1|0:47,42:89:99:1254,0,1381:127
1	146766069	.	C	CAT	65529.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=656;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs71083827;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71083827" target="_blank">rs71083827</a>;ExAC.Info.AC=122412;ExAC.Info.AN=126674;ExAC.Info.AF=0.966;ExAC.Info.AC_Het=4067;ExAC.Info.AC_Hom=58941;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2507-21_2507-20insAT;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2507_2508insAT;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2507_2508insAT;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2507_2508insAT;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2507_2508insAT;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2507_2508insAT;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2507_2508insAT;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2507-22_2507-21insAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.2507-22_2507-21insAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146766069">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,182:182:99:8443,574,0:127	1|1:0,275:275:99:12743,860,0:127	1|1:0,199:199:99:9108,616,0:127
1	146767149	.	G	T	41333.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=565;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|T|D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4950394;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4950394" target="_blank">rs4950394</a>;ExAC.Info.AC=122454;ExAC.Info.AN=126698;ExAC.Info.AF=0.967;ExAC.Info.AC_Het=4075;ExAC.Info.AC_Hom=59116;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2653G>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2653G>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2653G>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2653G>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2653G>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2653G>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Tca;snpeff.Amino_Acid_Change=p.Ala885Ser/c.2653G>T;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.2653G>T_p.Ala885Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.2653G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146767149">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,177:177:99:5656,532,0:127	1|1:0,209:209:99:7038,628,0:127	1|1:0,179:179:99:6188,538,0:127
1	146767320	.	A	G	38070.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=646;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs6537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6537" target="_blank">rs6537</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=130;snpeff.Amino_Acid_Change=c.*130A>G;snpeff.Amino_Acid_length=897;snpeff.Gene_Name=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369258;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369258;SAVANT_GENE=CHD1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD1L" target="_blank">CHD1L</a>;SAVANT_INFO=+/53.1kb/23/3.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*130A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHD1L+c.*130A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:146767320">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,211:213:99:7593,591,0:127	1|1:0,226:226:99:8152,679,0:127	1|0:108,99:207:99:3001,0,3038:127
1	147087721	.	T	A	28642.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3737843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737843" target="_blank">rs3737843</a>;ExAC.Info.AC=56604;ExAC.Info.AN=126700;ExAC.Info.AF=0.447;ExAC.Info.AC_Het=28870;ExAC.Info.AC_Hom=13774;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.660+19T>A;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234739;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234739;SAVANT_GENE=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;SAVANT_INFO=+/84.8kb/10/6.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.660+19T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCL9+c.660+19T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147087721">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,140:140:99:4918,421,0:127	1|1:0,132:132:99:4806,397,0:127	1|1:0,98:98:99:3724,295,0:127
1	147091972	.	C	T	15212.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3820129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820129" target="_blank">rs3820129</a>;ExAC.Info.AC=40046;ExAC.Info.AN=126704;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=24728;ExAC.Info.AC_Hom=7632;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2011C>T;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234739;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2011C>T;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234739;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2011C>T;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234739;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro671Ser/c.2011C>T;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234739;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234739;SAVANT_GENE=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;SAVANT_INFO=+/84.8kb/10/6.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.2011C>T_p.Pro671Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCL9+c.2011C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147091972">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2248,201,0:127	1|1:0,95:95:99:3180,284,0:127	1|0:34,38:72:99:1170,0,985:127
1	147092881	.	C	T	10979.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=600;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41295835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41295835" target="_blank">rs41295835</a>;ExAC.Info.AC=5481;ExAC.Info.AN=126646;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=5005;ExAC.Info.AC_Hom=207;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2902+18C>T;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234739;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2903C>T;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234739;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2903C>T;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234739;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2903C>T;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234739;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234739;SAVANT_GENE=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;SAVANT_INFO=+/84.8kb/10/6.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.2902+18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCL9+c.2902+18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147092881">View</a>	GT:AD:DP:GQ:PL:TP	1|0:96,97:193:99:2798,0,2736:127	0|0:238,0:238:99:0,715,8467:127	1|0:90,79:169:99:2172,0,2424:127
1	147096794	.	A	G	34010.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=509;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs867270;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=867270" target="_blank">rs867270</a>;ExAC.Info.AC=109181;ExAC.Info.AN=126406;ExAC.Info.AF=0.864;ExAC.Info.AC_Het=13287;ExAC.Info.AC_Hom=44440;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=34;snpeff.Amino_Acid_Change=c.*34A>G;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234739;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234739;SAVANT_GENE=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;SAVANT_INFO=+/84.8kb/10/6.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*34A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCL9+c.*34A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147096794">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,153:153:99:5351,460,0:127	1|1:0,185:185:99:6308,556,0:127	1|0:94,77:171:99:2308,0,2680:127
1	147096828	.	C	G	36418.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=460;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs946902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=946902" target="_blank">rs946902</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=68;snpeff.Amino_Acid_Change=c.*68C>G;snpeff.Amino_Acid_length=1426;snpeff.Gene_Name=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000234739;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000234739;SAVANT_GENE=BCL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCL9" target="_blank">BCL9</a>;SAVANT_INFO=+/84.8kb/10/6.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*68C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCL9+c.*68C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147096828">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,139:139:99:4740,418,0:127	1|1:0,160:160:99:5648,481,0:127	1|1:0,161:161:99:5503,484,0:127
1	147119273	.	G	A	28313.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=471;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1344;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1344" target="_blank">rs1344</a>;ExAC.Info.AC=67779;ExAC.Info.AN=126702;ExAC.Info.AF=0.535;ExAC.Info.AC_Het=30511;ExAC.Info.AC_Hom=18630;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1239G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His413His/c.1239C>T;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369238;SAVANT_GENE=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;SAVANT_INFO=-/23.4kb/10/1.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1239C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACP6+c.1239C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147119273">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,141:142:99:4512,416,0:127	1|1:0,162:162:99:5337,487,0:127	1|0:88,79:167:99:2131,0,2302:127
1	147121977	.	C	T	8147.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6593795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6593795" target="_blank">rs6593795</a>;ExAC.Info.AC=126190;ExAC.Info.AN=126704;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=486;ExAC.Info.AC_Hom=62851;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val316Met/c.946G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369238;SAVANT_GENE=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;SAVANT_INFO=-/23.4kb/10/1.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.946G>A_p.Val316Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACP6+c.946G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147121977">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1310,120,0:95	1|1:0,32:32:96:1196,96,0:95	1|1:0,36:36:99:1231,108,0:95
1	147124310	.	T	G	8758.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2153463;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2153463" target="_blank">rs2153463</a>;ExAC.Info.AC=90096;ExAC.Info.AN=126700;ExAC.Info.AF=0.711;ExAC.Info.AC_Het=25360;ExAC.Info.AC_Hom=32333;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.823T>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Agg/Cgg;snpeff.Amino_Acid_Change=p.Arg275Arg/c.823A>C;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369238;SAVANT_GENE=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;SAVANT_INFO=-/23.4kb/10/1.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.823A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACP6+c.823A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147124310">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1051,93,0:77	1|1:0,42:42:99:1346,126,0:77	1|1:0,26:26:78:845,78,0:77
1	147131501	.	A	T	10504.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs34675044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34675044" target="_blank">rs34675044</a>;ExAC.Info.AC=45692;ExAC.Info.AN=126688;ExAC.Info.AF=0.361;ExAC.Info.AC_Het=27344;ExAC.Info.AC_Hom=9116;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.479+10T>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.480A>T;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.480A>T;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Substrate_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.480A>T;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Substrate_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.480A>T;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Substrate_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.480A>T;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Substrate_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.480A>T;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369238;SAVANT_GENE=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;SAVANT_INFO=-/23.4kb/10/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.479+10T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACP6+c.479+10T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147131501">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1588,141,0:127	1|1:0,53:53:99:1952,159,0:127	1|0:15,18:33:99:578,0,424:127
1	147131710	.	A	C	2188.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3818888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818888" target="_blank">rs3818888</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.348+52T>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349A>C;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349A>C;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Substrate_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349A>C;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Substrate_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349A>C;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Substrate_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349A>C;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Substrate_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349A>C;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369238;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369238;SAVANT_GENE=ACP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP6" target="_blank">ACP6</a>;SAVANT_INFO=-/23.4kb/10/1.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.348+52T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACP6+c.348+52T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147131710">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2329:127	0|0:102,0:102:99:0,307,3514:127	0|1:39,41:80:99:1113,0,1047:127
1	147230217	.	T	C	7060.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Atrial_fibrillation|_familial|_11|_614049_(3)|_Atrial_standstill|_digenic|_108770_(3);dbSNP139.ID=rs1692141;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1692141" target="_blank">rs1692141</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.455-245T>C;snpeff.Gene_Name=RP11-433J22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-433J222" target="_blank">RP11-433J222</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428911;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=53;snpeff.Amino_Acid_Change=c.*53A>G;snpeff.Amino_Acid_length=358;snpeff.Gene_Name=GJA5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-433J222" target="_blank">RP11-433J222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271348;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271348;SAVANT_GENE=GJA5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA5" target="_blank">GJA5</a>;SAVANT_INFO=-/17.2kb/2/3.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*53A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJA5+c.*53A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147230217">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,324,3666:127	0|1:57,74:131:99:2209,0,1738:127	0|1:55,50:105:99:1341,0,1632:127
1	147231531	.	T	C	29195.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Atrial_fibrillation|_familial|_11|_614049_(3)|_Atrial_standstill|_digenic|_108770_(3);dbSNP139.ID=rs1692140;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1692140" target="_blank">rs1692140</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-33-152A>G;snpeff.Amino_Acid_length=358;snpeff.Gene_Name=GJA5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA5" target="_blank">GJA5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271348;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271348;SAVANT_GENE=GJA5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJA5" target="_blank">GJA5</a>;SAVANT_INFO=-/17.2kb/2/3.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-185A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJA5+c.-185A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147231531">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:3346,268,0:127	1|1:0,150:150:99:5562,451,0:127	1|1:0,125:125:99:4683,376,0:127
1	147381397	.	GA	G	15247.22	PASS	InheritancePattern=notInChild;AC=1;AF=0.333;AN=3;DP=390;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=./1;dbSNP139.ID=rs150194431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150194431" target="_blank">rs150194431</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150194431" target="_blank">rs150194431</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147381397">View</a>	GT:AD:DP:GQ:PL	./0:12,2:105:13:1822,2106,3420	./1:13,97:153:99:2562,777,1333	./0:22,5:132:99:2100,2416,4282
1	147381397	.	GA	GAA	15247.22	PASS	InheritancePattern=Normal;AC=3;AF=0.600;AN=5;DP=390;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./1;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147381397">View</a>	GT:AD:DP:GQ:PL	0/1:12,91:105:13:1822,0,13	./1:13,43:153:99:2562,1874,2701	0/1:22,105:132:99:2100,0,213
1	147381444	.	A	C	30109.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1532399;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1532399" target="_blank">rs1532399</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1532399" target="_blank">rs1532399</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147381444">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,121:122:99:4533,355,0:127	1|0:130,75:205:99:2231,0,3833:127	1|1:3,139:142:99:5245,366,0:127
1	147806559	.	C	T	19204.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10752439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10752439" target="_blank">rs10752439</a>;ExAC.Info.AC=1799;ExAC.Info.AN=4050;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=9;ExAC.Info.AC_Hom=13;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.923+4350C>T;snpeff.Gene_Name=RP11-495P10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-495P103" target="_blank">RP11-495P103</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000452996;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-495P103" target="_blank">RP11-495P103</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-495P103+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:147806559">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2896,261,0:127	1|1:0,116:116:99:3926,347,0:127	1|0:45,41:86:99:1249,0,1454:127
1	148010217	.	A	G	336.04	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=42;MQ=48.61;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs368282400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=368282400" target="_blank">rs368282400</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1754-53T>C;snpeff.Amino_Acid_length=926;snpeff.Gene_Name=NBPF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF14" target="_blank">NBPF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310701;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000310701;SAVANT_GENE=NBPF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBPF14" target="_blank">NBPF14</a>;SAVANT_INFO=-/22.2kb/22/3.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1756-53T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NBPF14+c.1756-53T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:148010217">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,5:19:99:117,0,446:25	1|0:1,2:3:25:72,0,25:25	0|0:20,0:20:60:0,60,723:25
1	149291003	.	C	T	360.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=62;MQ=38.22;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs201487380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201487380" target="_blank">rs201487380</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1447-201C>T;snpeff.Gene_Name=RP11-403I13.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-403I138" target="_blank">RP11-403I138</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433084;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-403I138" target="_blank">RP11-403I138</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-403I138+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149291003">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,7:18:99:189,0,362:62	0|0:21,0:21:63:0,63,779:62	1|0:20,3:23:35:35,0,644:62
1	149379694	.	C	T	227.11	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=16;MQ=64.66;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs79328769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79328769" target="_blank">rs79328769</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.425-9834G>A;snpeff.Gene_Name=HIST2H2BB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST2H2BB" target="_blank">HIST2H2BB</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609585;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0139.1:CTCF];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST2H2BB" target="_blank">HIST2H2BB</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIST2H2BB+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149379694">View</a>	GT:AD:DP:GQ:PL:TP	0|0:3,0:3:9:0,9,116:9	0|0:8,0:8:24:0,24,254:9	0|1:1,4:5:20:132,0,20:9
1	149676508	.	A	T	322.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=69;MQ=46.79;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs142083788;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142083788" target="_blank">rs142083788</a>;ExAC.Info.AC=3088;ExAC.Info.AN=17140;ExAC.Info.AF=0.180;ExAC.Info.AC_Het=3037;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1447-238A>T;snpeff.Gene_Name=RP11-353N4.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-353N44" target="_blank">RP11-353N44</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000443602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.378+24408T>A;snpeff.Gene_Name=RP11-353N4.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-353N44" target="_blank">RP11-353N44</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608683;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Tcc;snpeff.Amino_Acid_Change=p.Thr147Ser/c.439A>T;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=AL358813.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-353N44" target="_blank">RP11-353N44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369173;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369173;SAVANT_GENE=AL358813.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3588132" target="_blank">AL3588132</a>;SAVANT_INFO=+/0.6kb/1/0.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.439A>T_p.Thr147Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3588132+c.439A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149676508">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,0:18:54:0,54,601:53	0|1:20,7:27:99:180,0,641:53	0|0:24,0:24:72:0,72,858:53
1	149676532	.	A	G	62.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=39;MQ=44.15;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs138339323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138339323" target="_blank">rs138339323</a>;ExAC.Info.AC=2863;ExAC.Info.AN=16648;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=2713;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1447-214A>G;snpeff.Gene_Name=RP11-353N4.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-353N44" target="_blank">RP11-353N44</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000443602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.378+24384T>C;snpeff.Gene_Name=RP11-353N4.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-353N44" target="_blank">RP11-353N44</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608683;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile155Val/c.463A>G;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=AL358813.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-353N44" target="_blank">RP11-353N44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369173;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369173;SAVANT_GENE=AL358813.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3588132" target="_blank">AL3588132</a>;SAVANT_INFO=+/0.6kb/1/0.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.463A>G_p.Ile155Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3588132+c.463A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149676532">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,0:11:33:0,33,379:32	0|1:10,2:12:50:50,0,321:32	0|0:16,0:16:48:0,48,590:32
1	149764332	.	G	C	527.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=92;MQ=59.92;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=[IgG_receptor_I|_phagocytic|_familial_deficiency_of]_(3)|[IgG_receptor_I|_phagocytic|_familial_deficiency_of]_(3);dbSNP139.ID=rs150396346;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150396346" target="_blank">rs150396346</a>;ExAC.Info.AC=157;ExAC.Info.AN=17722;ExAC.Info.AF=8.859e-03;ExAC.Info.AC_Het=106;ExAC.Info.AC_Hom=2;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.245C>G;snpeff.Gene_Name=RP11-196G18.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-196G183" target="_blank">RP11-196G183</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428289;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HIST2H2BF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-196G183" target="_blank">RP11-196G183</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.76-9516C>G;snpeff.Gene_Name=RP11-196G18.21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-196G183" target="_blank">RP11-196G183</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420462;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545683;SAVANT_GENE=HIST2H2BF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST2H2BF" target="_blank">HIST2H2BF</a>;SAVANT_INFO=-/29.7kb/2/1.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.378-9516C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIST2H2BF+c.378-9516C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149764332">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,6:20:99:162,0,447:101	1|0:29,9:38:99:184,0,892:101	0|0:34,0:34:99:0,102,1057:101
1	149764685	.	G	C	985.04	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=40;MQ=69.10;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=[IgG_receptor_I|_phagocytic|_familial_deficiency_of]_(3)|[IgG_receptor_I|_phagocytic|_familial_deficiency_of]_(3);dbSNP139.ID=rs188275404;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=188275404" target="_blank">rs188275404</a>;ExAC.Info.AC=436;ExAC.Info.AN=14200;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=412;ExAC.Info.AC_Hom=16;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HIST2H2BF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST2H2BF" target="_blank">HIST2H2BF</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.76-9869C>G;snpeff.Gene_Name=RP11-196G18.21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST2H2BF" target="_blank">HIST2H2BF</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420462;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545683;SAVANT_GENE=HIST2H2BF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST2H2BF" target="_blank">HIST2H2BF</a>;SAVANT_INFO=-/29.7kb/2/1.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.378-9869C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIST2H2BF+c.378-9869C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149764685">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,2:10:43:43,0,235:29	1|0:11,9:20:99:275,0,196:29	0|0:10,0:10:30:0,30,338:29
1	149783886	.	C	T	2561.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=65.78;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=[IgG_receptor_I|_phagocytic|_familial_deficiency_of]_(3)|[IgG_receptor_I|_phagocytic|_familial_deficiency_of]_(3);dbSNP139.ID=rs139776319;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139776319" target="_blank">rs139776319</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.-8G>A;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=HIST2H2BF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST2H2BF" target="_blank">HIST2H2BF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427880;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545683;SAVANT_GENE=HIST2H2BF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST2H2BF" target="_blank">HIST2H2BF</a>;SAVANT_INFO=-/29.7kb/2/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-8G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIST2H2BF+c.-8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149783886">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,20:39:99:634,0,534:127	1|0:25,15:40:99:384,0,704:127	0|0:43,0:43:99:0,129,1444:127
1	149871905	.	G	C	4363.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1044808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1044808" target="_blank">rs1044808</a>;ExAC.Info.AC=5870;ExAC.Info.AN=126552;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=5391;ExAC.Info.AC_Hom=180;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gCa;snpeff.Amino_Acid_Change=p.Gly98Ala/c.293G>C;snpeff.Amino_Acid_length=137;snpeff.Gene_Name=BOLA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BOLA1" target="_blank">BOLA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369153;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369153;SAVANT_GENE=BOLA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BOLA1" target="_blank">BOLA1</a>;SAVANT_INFO=+/13.6kb/4/1.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.293G>C_p.Gly98Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BOLA1+c.293G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149871905">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,21:54:99:614,0,1018:127	1|0:42,34:76:99:1031,0,1331:127	0|0:51,0:51:99:0,153,1993:127
1	149880863	.	A	G	8365.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs68002561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=68002561" target="_blank">rs68002561</a>;ExAC.Info.AC=11648;ExAC.Info.AN=126704;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=9239;ExAC.Info.AC_Hom=1202;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1291-31T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369146;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369146;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369146;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369146;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369146;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369146;SAVANT_GENE=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;SAVANT_INFO=-/14.6kb/13/4.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1291-31T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SV2A+c.1291-31T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149880863">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,39:98:99:1013,0,1594:127	1|0:68,71:139:99:1950,0,1751:127	0|0:106,0:106:99:0,318,3209:127
1	149881173	.	A	C	10573.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs55909843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55909843" target="_blank">rs55909843</a>;ExAC.Info.AC=13693;ExAC.Info.AN=126564;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=10592;ExAC.Info.AC_Hom=1270;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1180-50T>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369146;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180A>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369146;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180A>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369146;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180A>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369146;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180A>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369146;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369146;SAVANT_GENE=SV2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SV2A" target="_blank">SV2A</a>;SAVANT_INFO=-/14.6kb/13/4.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1180-50T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SV2A+c.1180-50T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149881173">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1793,123,0:123	1|0:24,36:60:99:1390,0,1256:123	1|0:27,28:55:99:1063,0,1234:123
1	149897966	.	T	G	3837.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Acrofacial_dysostosis_1|_Nager_type|_154400_(3);dbSNP139.ID=rs72692812;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72692812" target="_blank">rs72692812</a>;ExAC.Info.AC=5041;ExAC.Info.AN=117664;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=3995;ExAC.Info.AC_Hom=112;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.707-32A>C;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SF3B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3B4" target="_blank">SF3B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271628;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271628;SAVANT_GENE=SF3B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SF3B4" target="_blank">SF3B4</a>;SAVANT_INFO=-/5.0kb/6/2.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.707-32A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SF3B4+c.707-32A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149897966">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,19:37:99:641,0,472:127	1|0:31,20:51:99:583,0,902:127	0|0:57,0:57:99:0,171,2047:127
1	149900985	.	CA	C	1173.3	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=99;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./0;OMIM_phenotypes.name=Acrofacial_dysostosis_1|_Nager_type|_154400_(3);dbSNP139.ID=rs71664710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71664710" target="_blank">rs71664710</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=35;snpeff.Amino_Acid_Change=c.*35delT;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000439741;SAVANT_GENE=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;SAVANT_INFO=-/8.2kb/17/2.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*35delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTMR11+c.*35delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149900985">View</a>	GT:AD:DP:GQ:PL	./0:7,8:26:30:117,75,527	./0:17,4:40:99:262,320,1100	0/1:16,10:33:74:117,0,571
1	149900985	.	CA	CAA	1173.3	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=99;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=0/1;OMIM_phenotypes.name=Acrofacial_dysostosis_1|_Nager_type|_154400_(3);dbSNP139.ID=rs71664710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71664710" target="_blank">rs71664710</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=34;snpeff.Amino_Acid_Change=c.*34_*35insT;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000439741;SAVANT_GENE=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;SAVANT_INFO=-/8.2kb/17/2.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*35dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTMR11+c.*35dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149900985">View</a>	GT:AD:DP:GQ:PL	0/1:7,11:26:30:117,0,144	0/1:17,19:40:99:262,0,303	./0:16,7:33:74:117,74,460
1	149903122	.	G	C	1742.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Acrofacial_dysostosis_1|_Nager_type|_154400_(3);dbSNP139.ID=rs72692819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72692819" target="_blank">rs72692819</a>;ExAC.Info.AC=6821;ExAC.Info.AN=126694;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=6370;ExAC.Info.AC_Hom=220;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1290+30C>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291G>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291G>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291G>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291G>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291G>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291G>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291G>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291G>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291G>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1291G>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439741;SAVANT_GENE=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;SAVANT_INFO=-/8.2kb/17/2.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1290+30C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTMR11+c.1290+30C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149903122">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,11:21:99:337,0,321:60	1|0:31,13:44:99:411,0,1018:60	0|0:20,0:20:60:0,60,768:60
1	149905279	.	G	A	1928.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Acrofacial_dysostosis_1|_Nager_type|_154400_(3);dbSNP139.ID=rs72692821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72692821" target="_blank">rs72692821</a>;ExAC.Info.AC=22598;ExAC.Info.AN=126700;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=17435;ExAC.Info.AC_Hom=2571;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.985+20C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439741;SAVANT_GENE=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;SAVANT_INFO=-/8.2kb/17/2.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.985+20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTMR11+c.985+20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149905279">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,16:40:99:400,0,759:127	0|0:70,0:70:99:0,210,2392:127	1|0:29,13:42:99:320,0,861:127
1	149906413	.	T	C	4240.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Acrofacial_dysostosis_1|_Nager_type|_154400_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11205303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11205303" target="_blank">rs11205303</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=42419;ExAC.Info.AN=126704;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=26829;ExAC.Info.AC_Hom=7766;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met159Val/c.475A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439741;SAVANT_GENE=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;SAVANT_INFO=-/8.2kb/17/2.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.475A>G_p.Met159Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTMR11+c.475A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149906413">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2363:127	0|1:55,49:104:99:1365,0,1771:127	0|1:40,27:67:99:775,0,1230:127
1	149907489	.	C	A	2892.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Acrofacial_dysostosis_1|_Nager_type|_154400_(3);dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|T|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72692822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72692822" target="_blank">rs72692822</a>;ExAC.Info.AC=1;ExAC.Info.AN=126704;ExAC.Info.AF=7.892e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tgG/tgT;snpeff.Amino_Acid_Change=p.Trp84Cys/c.252G>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439741;SAVANT_GENE=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;SAVANT_INFO=-/8.2kb/17/2.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.252G>T_p.Trp84Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTMR11+c.252G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149907489">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,2:100:99:0,251,3188:127	0|1:57,52:109:99:1465,0,1717:127	0|0:98,0:98:99:0,294,3560:127
1	149908108	.	A	G	4898.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Acrofacial_dysostosis_1|_Nager_type|_154400_(3);dbSNP139.ID=rs1868992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1868992" target="_blank">rs1868992</a>;ExAC.Info.AC=39249;ExAC.Info.AN=126704;ExAC.Info.AF=0.310;ExAC.Info.AC_Het=25325;ExAC.Info.AC_Hom=6961;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn27Asn/c.81T>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439741;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439741;SAVANT_GENE=MTMR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR11" target="_blank">MTMR11</a>;SAVANT_INFO=-/8.2kb/17/2.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.81T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTMR11+c.81T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:149908108">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,32:52:99:1029,0,489:127	0|0:82,0:82:99:0,246,2777:127	1|0:21,29:50:99:886,0,621:127
1	150122493	.	T	C	4414.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=51;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4553237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4553237" target="_blank">rs4553237</a>;ExAC.Info.AC=104224;ExAC.Info.AN=104534;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=105;ExAC.Info.AC_Hom=31113;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.30+16T>C;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=PLEKHO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHO1" target="_blank">PLEKHO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369124;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369124;SAVANT_GENE=PLEKHO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHO1" target="_blank">PLEKHO1</a>;SAVANT_INFO=+/10.1kb/6/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.30+16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHO1+c.30+16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150122493">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:523,45,0:38	1|1:0,23:23:69:747,69,0:38	1|1:0,13:13:39:422,39,0:38
1	150199123	.	G	T	6031.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7522034;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7522034" target="_blank">rs7522034</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=58184;ExAC.Info.AN=126678;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=29764;ExAC.Info.AC_Hom=14007;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__highly_acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498G>T;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=ANP32E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANP32E" target="_blank">ANP32E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314136;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__highly_acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498G>T;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=ANP32E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANP32E" target="_blank">ANP32E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314136;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__highly_acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498G>T;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=ANP32E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANP32E" target="_blank">ANP32E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314136;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__highly_acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498G>T;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=ANP32E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANP32E" target="_blank">ANP32E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314136;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly166Gly/c.498C>A;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=ANP32E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANP32E" target="_blank">ANP32E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314136;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314136;SAVANT_GENE=ANP32E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANP32E" target="_blank">ANP32E</a>;SAVANT_INFO=-/17.8kb/7/3.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.498C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANP32E+c.498C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150199123">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,38:80:99:968,0,1202:127	0|0:109,0:109:99:0,327,3585:127	1|1:0,57:57:99:1860,171,0:127
1	150258838	.	C	G	9737.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1122967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1122967" target="_blank">rs1122967</a>;ExAC.Info.AC=75214;ExAC.Info.AN=126674;ExAC.Info.AF=0.594;ExAC.Info.AC_Het=27992;ExAC.Info.AC_Hom=23543;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.634-4C>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=C1orf51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf51" target="_blank">C1orf51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290363;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290363;SAVANT_GENE=C1orf51;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf51" target="_blank">C1orf51</a>;SAVANT_INFO=+/4.3kb/5/1.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.634-4C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf51+c.634-4C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150258838">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,32:75:99:1049,0,1275:127	0|0:110,0:110:99:0,331,4049:127	1|1:0,84:84:99:3166,252,0:127
1	150281343	.	C	T	13870.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs71622690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71622690" target="_blank">rs71622690</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=681;snpeff.Amino_Acid_Change=c.*681C>T;snpeff.Amino_Acid_length=87;snpeff.Gene_Name=MRPS21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPS21" target="_blank">MRPS21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369084;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369084;SAVANT_GENE=MRPS21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPS21" target="_blank">MRPS21</a>;SAVANT_INFO=+/15.1kb/2/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*681C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPS21+c.*681C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150281343">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,64:144:99:1535,0,2104:127	0|0:171,0:171:99:0,513,5566:127	1|1:0,131:131:99:4121,393,0:127
1	150284311	.	C	T	17488.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=573;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11580234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11580234" target="_blank">rs11580234</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11580234" target="_blank">rs11580234</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150284311">View</a>	GT:AD:DP:GQ:PL:TP	1|0:113,96:209:99:2545,0,3195:127	0|0:211,0:211:99:0,634,7718:127	1|1:0,153:153:99:5245,460,0:127
1	150298192	.	G	A	36089.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1089;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Retinitis_pigmentosa_18|_601414_(3);dbSNP139.ID=rs11205362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11205362" target="_blank">rs11205362</a>;ExAC.Info.AC=10631;ExAC.Info.AN=126704;ExAC.Info.AF=0.084;ExAC.Info.AC_Het=9434;ExAC.Info.AC_Hom=598;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.146-17G>A;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324862;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146G>A;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324862;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146G>A;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324862;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PWI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146G>A;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324862;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PWI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146G>A;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324862;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324862;SAVANT_GENE=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;SAVANT_INFO=+/31.7kb/16/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.146-17G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF3+c.146-17G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150298192">View</a>	GT:AD:DP:GQ:PL:TP	1|0:160,185:345:99:5002,0,4336:127	0|0:366,1:367:99:0,1074,12440:127	1|1:0,377:377:99:12720,1131,0:127
1	150300727	.	T	C	41682.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=511;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Retinitis_pigmentosa_18|_601414_(3);dbSNP139.ID=rs834225;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=834225" target="_blank">rs834225</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.277-52T>C;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324862;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324862;SAVANT_GENE=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;SAVANT_INFO=+/31.7kb/16/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.277-52T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF3+c.277-52T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150300727">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:5651,472,0:127	1|1:0,187:187:99:6714,562,0:127	1|1:0,167:167:99:6052,502,0:127
1	150310549	.	CA	C	3361.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=161;MQ=69.07;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Retinitis_pigmentosa_18|_601414_(3);dbSNP139.ID=rs34911220;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34911220" target="_blank">rs34911220</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1036-86delA;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324862;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000324862;SAVANT_GENE=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;SAVANT_INFO=+/31.7kb/16/2.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1036-71delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF3+c.1036-71delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150310549">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,27:50:99:400,0,325:71	0|1:48,14:62:99:109,0,891:71	1|1:3,46:49:72:1011,72,0:71
1	150315759	.	G	GGTATACTAATATCTCTGCCTGACAGTTGACA	12224.25	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Retinitis_pigmentosa_18|_601414_(3);ExAC.Info.AC=10332;ExAC.Info.AN=126652;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=9238;ExAC.Info.AC_Hom=538;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1283-25_1283-24insGTATACTAATATCTCTGCCTGACAGTTGACA;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324862;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000324862;SAVANT_GENE=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;SAVANT_INFO=+/31.7kb/16/2.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1283-25_1288dup31;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF3+c.1283-25_1288dup31+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150315759">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,21:67:99:1622,0,1783:127	0|0:101,0:101:99:0,310,4552:127	1|1:0,56:56:99:4482,304,0:127
1	150325231	.	A	G	11721.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Retinitis_pigmentosa_18|_601414_(3);dbSNP139.ID=rs41300865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41300865" target="_blank">rs41300865</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1906-78A>G;snpeff.Amino_Acid_length=683;snpeff.Gene_Name=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324862;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324862;SAVANT_GENE=PRPF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF3" target="_blank">PRPF3</a>;SAVANT_INFO=+/31.7kb/16/2.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1906-78A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF3+c.1906-78A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150325231">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,62:118:99:1969,0,1478:127	0|0:163,0:163:99:0,490,5524:127	1|1:0,124:124:99:4415,373,0:127
1	150337289	.	G	T	6355.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs72696841;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72696841" target="_blank">rs72696841</a>;ExAC.Info.AC=10494;ExAC.Info.AN=125078;ExAC.Info.AF=0.084;ExAC.Info.AC_Het=9315;ExAC.Info.AC_Hom=577;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.99G>T;snpeff.Amino_Acid_length=1461;snpeff.Gene_Name=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369068;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.99G>T;snpeff.Amino_Acid_length=1461;snpeff.Gene_Name=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369068;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.99G>T;snpeff.Amino_Acid_length=1461;snpeff.Gene_Name=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369068;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.99G>T;snpeff.Amino_Acid_length=1461;snpeff.Gene_Name=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369068;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.99G>T;snpeff.Amino_Acid_length=1461;snpeff.Gene_Name=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369068;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcT;snpeff.Amino_Acid_Change=p.Ser33Ser/c.99G>T;snpeff.Amino_Acid_length=1461;snpeff.Gene_Name=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369068;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369068;SAVANT_GENE=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;SAVANT_INFO=+/108.8kb/11/4.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.99G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPRD2+c.99G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150337289">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,28:64:99:782,0,927:116	0|0:94,0:94:99:0,282,3094:116	1|1:2,53:55:99:1759,116,0:116
1	150429944	.	A	G	11650.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41273537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41273537" target="_blank">rs41273537</a>;ExAC.Info.AC=10522;ExAC.Info.AN=124950;ExAC.Info.AF=0.084;ExAC.Info.AC_Het=9339;ExAC.Info.AC_Hom=591;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met351Val/c.1051A>G;snpeff.Amino_Acid_length=1461;snpeff.Gene_Name=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369068;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369068;SAVANT_GENE=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;SAVANT_INFO=+/108.8kb/11/4.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1051A>G_p.Met351Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPRD2+c.1051A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150429944">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,51:118:99:1425,0,1809:127	0|0:141,0:141:99:0,423,5073:127	1|1:0,100:100:99:3710,301,0:127
1	150437215	.	A	G	4823.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs66513313;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66513313" target="_blank">rs66513313</a>;ExAC.Info.AC=20817;ExAC.Info.AN=124674;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=14870;ExAC.Info.AC_Hom=1893;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1612+12A>G;snpeff.Amino_Acid_length=1461;snpeff.Gene_Name=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369068;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1613A>G;snpeff.Amino_Acid_length=1461;snpeff.Gene_Name=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369068;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1613A>G;snpeff.Amino_Acid_length=1461;snpeff.Gene_Name=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369068;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1613A>G;snpeff.Amino_Acid_length=1461;snpeff.Gene_Name=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369068;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369068;SAVANT_GENE=RPRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPRD2" target="_blank">RPRD2</a>;SAVANT_INFO=+/108.8kb/11/4.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1612+12A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPRD2+c.1612+12A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150437215">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,20:46:99:591,0,713:116	0|0:66,0:66:99:0,198,2156:116	1|1:0,39:39:99:1482,117,0:116
1	150477061	.	C	T	10177.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3738487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738487" target="_blank">rs3738487</a>;ExAC.Info.AC=43185;ExAC.Info.AN=126660;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=26797;ExAC.Info.AC_Hom=8059;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1719-47C>T;snpeff.Amino_Acid_length=718;snpeff.Gene_Name=TARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARS2" target="_blank">TARS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369064;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369064;SAVANT_GENE=TARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARS2" target="_blank">TARS2</a>;SAVANT_INFO=+/20.2kb/18/2.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1719-47C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TARS2+c.1719-47C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150477061">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,35:81:99:979,0,1403:127	1|1:0,99:99:99:3456,298,0:127	0|0:81,0:81:99:0,243,2859:127
1	150482255	.	A	G	8344.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Urbach-Wiethe_disease|_247100_(3);dbSNP139.ID=rs41264469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264469" target="_blank">rs41264469</a>;ExAC.Info.AC=12241;ExAC.Info.AN=126702;ExAC.Info.AF=0.097;ExAC.Info.AC_Het=10621;ExAC.Info.AC_Hom=796;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.217+23A>G;snpeff.Amino_Acid_length=567;snpeff.Gene_Name=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369049;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369049;SAVANT_GENE=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;SAVANT_INFO=+/5.5kb/10/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.217+23A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECM1+c.217+23A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150482255">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,39:70:99:1150,0,938:127	0|0:97,0:97:99:0,291,3336:127	1|1:0,68:68:99:2378,204,0:127
1	150483355	.	C	T	9144.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Urbach-Wiethe_disease|_247100_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3737240;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737240" target="_blank">rs3737240</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=42765;ExAC.Info.AN=126384;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=26345;ExAC.Info.AC_Hom=7864;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr157Met/c.470C>T;snpeff.Amino_Acid_length=567;snpeff.Gene_Name=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369049;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369049;SAVANT_GENE=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;SAVANT_INFO=+/5.5kb/10/1.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.470C>T_p.Thr157Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECM1+c.470C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150483355">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,39:77:99:1131,0,1119:127	1|1:1,90:91:99:3149,264,0:127	0|0:70,0:70:99:0,210,2587:127
1	150484395	.	ACC	A	29657.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=419;MQ=70.18;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Urbach-Wiethe_disease|_247100_(3);dbSNP139.ID=rs149815479;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149815479" target="_blank">rs149815479</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1164+89_1164+90delCC;snpeff.Amino_Acid_length=567;snpeff.Gene_Name=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369049;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1165_1166delCC;snpeff.Amino_Acid_length=567;snpeff.Gene_Name=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369049;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1165_1166delCC;snpeff.Amino_Acid_length=567;snpeff.Gene_Name=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369049;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:2_X_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1165_1166delCC;snpeff.Amino_Acid_length=567;snpeff.Gene_Name=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369049;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:2_X_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1165_1166delCC;snpeff.Amino_Acid_length=567;snpeff.Gene_Name=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369049;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:2_X_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1165_1166delCC;snpeff.Amino_Acid_length=567;snpeff.Gene_Name=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369049;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369049;SAVANT_GENE=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;SAVANT_INFO=+/5.5kb/10/1.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1164+94_1164+95delCC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECM1+c.1164+94_1164+95delCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150484395">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:3790,385,0:127	1|1:1,155:156:99:4699,456,0:127	1|1:0,134:134:99:4287,402,0:127
1	150484987	.	G	A	19615.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=493;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Urbach-Wiethe_disease|_247100_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13294" target="_blank">rs13294</a>;ExAC.Info.AC=44834;ExAC.Info.AN=126704;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=27951;ExAC.Info.AC_Hom=8438;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Agt;snpeff.Amino_Acid_Change=p.Gly442Ser/c.1324G>A;snpeff.Amino_Acid_length=567;snpeff.Gene_Name=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369049;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369049;SAVANT_GENE=ECM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECM1" target="_blank">ECM1</a>;SAVANT_INFO=+/5.5kb/10/1.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1324G>A_p.Gly442Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECM1+c.1324G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150484987">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,66:133:99:2048,0,1910:127	1|1:0,178:178:99:6569,535,0:127	0|0:180,2:182:99:0,497,6316:127
1	150524367	.	CA	C	396.97	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs199813152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199813152" target="_blank">rs199813152</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-84-313delA;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.476+2643delT;snpeff.Gene_Name=RP11-54A4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442435;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=downstream_gene_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Amino_Acid_length=154;snpeff.Gene_Name=AL356356.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538795;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-383delA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.-383delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150524367">View</a>	GT:AD:DP:GQ:PL:TP	0|0:10,0:10:29:0,29,232:27	0|1:13,7:20:99:119,0,219:27	0|1:12,3:15:32:32,0,252:27
1	150524878	.	G	A	1846.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs72700822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72700822" target="_blank">rs72700822</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.20+94G>A;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.476+2133C>T;snpeff.Gene_Name=RP11-54A4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442435;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.20+94G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.20+94G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150524878">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2394:127	0|0:103,0:103:99:0,309,3557:127	0|1:53,36:89:99:942,0,1479:127
1	150526044	.	G	C	14837.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41317515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41317515" target="_blank">rs41317515</a>;ExAC.Info.AC=66505;ExAC.Info.AN=126704;ExAC.Info.AF=0.525;ExAC.Info.AC_Het=30777;ExAC.Info.AC_Hom=17850;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.476+967C>G;snpeff.Gene_Name=RP11-54A4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-54A42" target="_blank">RP11-54A42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442435;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Cct;snpeff.Amino_Acid_Change=p.Ala193Pro/c.577G>C;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-54A42" target="_blank">RP11-54A42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.577G>C_p.Ala193Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.577G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150526044">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,66:125:99:2036,0,1663:127	0|0:165,0:165:99:0,496,5756:127	1|1:0,125:125:99:4432,376,0:127
1	150526406	.	C	T	7671.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs6681639;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6681639" target="_blank">rs6681639</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=36367;ExAC.Info.AN=126100;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=22889;ExAC.Info.AC_Hom=5126;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.476+605G>A;snpeff.Gene_Name=RP11-54A4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-54A42" target="_blank">RP11-54A42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442435;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly313Gly/c.939C>T;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-54A42" target="_blank">RP11-54A42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.939C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.939C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150526406">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,40:73:99:1042,0,1061:127	0|0:96,0:96:99:0,288,3587:127	1|1:0,66:66:99:2135,197,0:127
1	150528090	.	G	GACAC	8502.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs146160043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146160043" target="_blank">rs146160043</a>;ExAC.Info.AC=81174;ExAC.Info.AN=126040;ExAC.Info.AF=0.644;ExAC.Info.AC_Het=24098;ExAC.Info.AC_Hom=24246;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1440+50_1440+51insACAC;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.278+340_278+339insGTGT;snpeff.Gene_Name=RP11-54A4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442435;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1371+51_1371+54dupCACA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.1371+51_1371+54dupCACA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150528090">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,47:102:99:1361,0,2147:127	0|0:119,0:119:99:0,359,5351:127	1|1:0,74:74:99:2625,226,0:127
1	150528118	.	T	TACAC	7936.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs149100901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149100901" target="_blank">rs149100901</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1440+78_1440+79insACAC;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.278+312_278+311insGTGT;snpeff.Gene_Name=RP11-54A4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442435;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1371+81_1371+84dupCACA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.1371+81_1371+84dupCACA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150528118">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,40:75:99:1524,0,1346:127	0|0:85,0:85:99:0,257,3783:127	1|1:0,55:55:99:2446,165,0:127
1	150528885	.	G	A	1604.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs12119250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12119250" target="_blank">rs12119250</a>;ExAC.Info.AC=5082;ExAC.Info.AN=126542;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=4584;ExAC.Info.AC_Hom=129;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1645+43G>A;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.110-192C>T;snpeff.Gene_Name=RP11-54A4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442435;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1576+43G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.1576+43G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150528885">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2380:127	0|0:74,0:74:99:0,222,2690:127	0|1:29,26:55:99:821,0,941:127
1	150529322	.	T	TAA	30260.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs34379037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34379037" target="_blank">rs34379037</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1818+54_1818+55insAA;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.33-162_33-163insTT;snpeff.Gene_Name=RP11-54A4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442435;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1749+53_1749+54insAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.1749+53_1749+54insAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150529322">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:3374,226,0:127	1|1:0,102:102:99:4740,321,0:127	1|1:0,93:93:99:4349,303,0:127
1	150530850	.	T	G	318.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs72700824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72700824" target="_blank">rs72700824</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2452-99T>G;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2383-99T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.2383-99T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150530850">View</a>	GT:AD:DP:GQ:PL:TP	0|0:16,0:16:48:0,48,545:47	0|0:28,0:28:84:0,84,1032:47	0|1:18,8:26:99:178,0,599:47
1	150531008	.	T	C	29856.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs10888382;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888382" target="_blank">rs10888382</a>;ExAC.Info.AC=114954;ExAC.Info.AN=126672;ExAC.Info.AF=0.907;ExAC.Info.AC_Het=9828;ExAC.Info.AC_Hom=52239;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn837Asn/c.2511T>C;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2442T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.2442T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150531008">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2696,239,0:127	1|1:0,139:139:99:4695,418,0:127	1|1:0,108:108:99:3742,324,0:127
1	150531050	.	G	A	29318.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs10749657;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10749657" target="_blank">rs10749657</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=109911;ExAC.Info.AN=126674;ExAC.Info.AF=0.868;ExAC.Info.AC_Het=14170;ExAC.Info.AC_Hom=47647;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro851Pro/c.2553G>A;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2484G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.2484G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150531050">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:2772,255,0:127	1|1:0,137:137:99:4514,411,0:127	1|1:0,104:104:99:3623,313,0:127
1	150531170	.	C	T	28040.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs10749658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10749658" target="_blank">rs10749658</a>;ExAC.Info.AC=123741;ExAC.Info.AN=126666;ExAC.Info.AF=0.977;ExAC.Info.AC_Het=2143;ExAC.Info.AC_Hom=60417;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2628+45C>T;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2559+45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.2559+45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150531170">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3234,285,0:127	1|1:0,118:118:99:4208,354,0:127	1|1:0,103:103:99:3684,310,0:127
1	150531380	.	T	C	4501.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbSNP139.ID=rs11204664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11204664" target="_blank">rs11204664</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2629-58T>C;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2560-58T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.2560-58T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150531380">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,17:41:99:414,0,687:84	0|1:21,19:40:99:517,0,595:84	1|1:0,28:28:84:1022,84,0:84
1	150532376	.	G	A	5501.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3)|Ectopia_lentis|_isolated|_autosomal_recessive|_225100_(3)|_Ectopia_lentis_et_pupillae|_225200_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56411234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56411234" target="_blank">rs56411234</a>;ExAC.Info.AC=1967;ExAC.Info.AN=126688;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=1921;ExAC.Info.AC_Hom=21;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg1051His/c.3152G>A;snpeff.Amino_Acid_length=1097;snpeff.Gene_Name=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369039;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271643;SAVANT_GENE=ADAMTSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTSL4" target="_blank">ADAMTSL4</a>;SAVANT_INFO=+/11.5kb/19/4.2kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.3083G>A_p.Arg1028His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTSL4+c.3083G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150532376">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,35:69:99:1007,0,1073:127	1|0:27,40:67:99:1164,0,803:127	0|0:73,0:73:99:0,219,2704:127
1	150550019	.	T	TA	10303.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11428742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11428742" target="_blank">rs11428742</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.937-52_937-53insT;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=MCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCL1" target="_blank">MCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:BH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.937_938insA;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=MCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCL1" target="_blank">MCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369026;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:BH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.937_938insA;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=MCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCL1" target="_blank">MCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.937_938insA;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=MCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCL1" target="_blank">MCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369026;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.937_938insA;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=MCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCL1" target="_blank">MCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369026;SAVANT_GENE=MCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCL1" target="_blank">MCL1</a>;SAVANT_INFO=-/5.0kb/3/3.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.937-53dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCL1+c.937-53dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150550019">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1955,156,0:92	1|1:0,39:39:99:1464,117,0:92	1|1:0,31:31:93:1174,93,0:92
1	150551327	.	G	A	3026.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11580946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11580946" target="_blank">rs11580946</a>;ExAC.Info.AC=1053;ExAC.Info.AN=126694;ExAC.Info.AF=8.311e-03;ExAC.Info.AC_Het=1023;ExAC.Info.AC_Hom=12;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.680G>A;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=MCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCL1" target="_blank">MCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.680G>A;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=MCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCL1" target="_blank">MCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala227Val/c.680C>T;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=MCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCL1" target="_blank">MCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369026;SAVANT_GENE=MCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCL1" target="_blank">MCL1</a>;SAVANT_INFO=-/5.0kb/3/3.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.680C>T_p.Ala227Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCL1+c.680C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150551327">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2787:127	0|1:66,57:123:99:1532,0,1977:127	0|0:93,0:93:99:0,279,3192:127
1	150595354	.	GA	G	213.35	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=42;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ExAC.Info.AC=2587;ExAC.Info.AN=74708;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=6572;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.398+2763delT;snpeff.Amino_Acid_length=187;snpeff.Gene_Name=ENSA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENSA" target="_blank">ENSA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369016;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000339643;SAVANT_GENE=ENSA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENSA" target="_blank">ENSA</a>;SAVANT_INFO=-/6.8kb/5/0.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.399-20delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENSA+c.399-20delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150595354">View</a>	GT:AD:DP:GQ:PL:TP	0|0:12,0:12:35:0,35,270:24	0|1:15,3:18:25:25,0,282:24	0|1:8,4:12:54:54,0,159:24
1	150671243	.	AC	A	5934.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs139837908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139837908" target="_blank">rs139837908</a>;ExAC.Info.AC=51950;ExAC.Info.AN=126642;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=29828;ExAC.Info.AC_Hom=10843;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1105-34delG;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=HORMAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HORMAD1" target="_blank">HORMAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368993;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361824;SAVANT_GENE=HORMAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HORMAD1" target="_blank">HORMAD1</a>;SAVANT_INFO=-/22.6kb/15/1.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1105-34delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HORMAD1+c.1105-34delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150671243">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,30:65:99:1012,0,1217:127	0/1:37,38:75:99:1280,0,1243:127	0/1:41,19:60:99:559,0,1479:127
1	150676674	.	TA	T	1263.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs367543855;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=367543855" target="_blank">rs367543855</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.872-5delT;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=HORMAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HORMAD1" target="_blank">HORMAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368993;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.872delT;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=HORMAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HORMAD1" target="_blank">HORMAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368993;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361824;SAVANT_GENE=HORMAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HORMAD1" target="_blank">HORMAD1</a>;SAVANT_INFO=-/22.6kb/15/1.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.872-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HORMAD1+c.872-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150676674">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,8:18:99:142,0,139:127	0/1:19,16:35:99:257,0,307:127	0/1:17,11:28:99:182,0,272:127
1	150679033	.	G	A	15755.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=532;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1336900;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1336900" target="_blank">rs1336900</a>;ExAC.Info.AC=50466;ExAC.Info.AN=126670;ExAC.Info.AF=0.398;ExAC.Info.AC_Het=29505;ExAC.Info.AC_Hom=10429;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCa/aTa;snpeff.Amino_Acid_Change=p.Thr267Ile/c.800C>T;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=HORMAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HORMAD1" target="_blank">HORMAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368993;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361824;SAVANT_GENE=HORMAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HORMAD1" target="_blank">HORMAD1</a>;SAVANT_INFO=-/22.6kb/15/1.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.800C>T_p.Thr267Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HORMAD1+c.800C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150679033">View</a>	GT:AD:DP:GQ:PL:TP	0/1:89,89:178:99:2206,0,2366:127	0/1:96,107:203:99:2919,0,2732:127	0/1:79,72:151:99:1775,0,2289:127
1	150686633	.	A	T	2344.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs34593358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34593358" target="_blank">rs34593358</a>;ExAC.Info.AC=30638;ExAC.Info.AN=126374;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=22423;ExAC.Info.AC_Hom=4027;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.243-36T>A;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=HORMAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HORMAD1" target="_blank">HORMAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368993;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361824;SAVANT_GENE=HORMAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HORMAD1" target="_blank">HORMAD1</a>;SAVANT_INFO=-/22.6kb/15/1.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.243-36T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HORMAD1+c.243-36T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150686633">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,14:41:99:360,0,727:127	0|0:62,0:62:99:0,186,2249:127	1|0:15,15:30:99:472,0,427:127
1	150727539	.	G	A	16012.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230061;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230061" target="_blank">rs2230061</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=47542;ExAC.Info.AN=126704;ExAC.Info.AF=0.375;ExAC.Info.AC_Het=28919;ExAC.Info.AC_Hom=9300;snpeff.Effect=sequence_feature[maturation_peptide:Activation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Activation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Activation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg113Trp/c.337C>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368985;SAVANT_GENE=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;SAVANT_INFO=-/35.8kb/8/4.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.337C>T_p.Arg113Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSS+c.337C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150727539">View</a>	GT:AD:DP:GQ:PL:TP	0/1:101,70:171:99:1948,0,2769:127	0/1:105,100:205:99:2749,0,2827:127	0/1:78,72:150:99:2133,0,2355:127
1	150730279	.	A	G	5592.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2275235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275235" target="_blank">rs2275235</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.249+55T>C;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Activation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.250A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Activation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.250A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Activation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.250A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368985;SAVANT_GENE=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;SAVANT_INFO=-/35.8kb/8/4.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.249+55T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSS+c.249+55T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150730279">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,18:43:99:515,0,739:127	0/1:26,28:54:99:808,0,756:127	0/1:30,35:65:99:1078,0,883:127
1	150737090	.	C	T	2796.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs56404059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56404059" target="_blank">rs56404059</a>;ExAC.Info.AC=1053;ExAC.Info.AN=126696;ExAC.Info.AF=8.311e-03;ExAC.Info.AC_Het=1027;ExAC.Info.AC_Hom=13;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.126+24G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Activation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Activation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Activation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368985;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368985;SAVANT_GENE=CTSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSS" target="_blank">CTSS</a>;SAVANT_INFO=-/35.8kb/8/4.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.126+24G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSS+c.126+24G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150737090">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2596:127	0|1:56,48:104:99:1417,0,1726:127	0|0:90,0:90:99:0,271,3292:127
1	150771703	.	T	C	86020.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Pycnodysostosis|_265800_(3);dbSNP139.ID=rs10788796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10788796" target="_blank">rs10788796</a>;ExAC.Info.AC=125299;ExAC.Info.AN=126702;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1337;ExAC.Info.AC_Hom=61975;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831T>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=CTSK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSK" target="_blank">CTSK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271651;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831T>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=CTSK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSK" target="_blank">CTSK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271651;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831T>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=CTSK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSK" target="_blank">CTSK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271651;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala277Ala/c.831A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=CTSK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSK" target="_blank">CTSK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271651;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271651;SAVANT_GENE=CTSK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSK" target="_blank">CTSK</a>;SAVANT_INFO=-/12.1kb/8/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.831A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSK+c.831A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150771703">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,408:408:99:13617,1225,0:127	1|1:2,452:454:99:15281,1317,0:127	1|1:0,381:381:99:12883,1148,0:127
1	150779755	.	C	T	34647.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Pycnodysostosis|_265800_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6587522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587522" target="_blank">rs6587522</a>;ExAC.Info.AC=22742;ExAC.Info.AN=22858;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=72;ExAC.Info.AC_Hom=9824;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1-473G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=CTSK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSK" target="_blank">CTSK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271651;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271651;SAVANT_GENE=CTSK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSK" target="_blank">CTSK</a>;SAVANT_INFO=-/12.1kb/8/1.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-474G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSK+c.-474G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150779755">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:4118,358,0:127	1|1:0,149:149:99:4935,448,0:127	1|1:0,154:154:99:5147,463,0:127
1	150799112	.	A	C	616.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Leukemia|_acute_myeloblastic_(3);dbSNP139.ID=rs3768017;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3768017" target="_blank">rs3768017</a>;ExAC.Info.AC=12053;ExAC.Info.AN=126550;ExAC.Info.AF=0.095;ExAC.Info.AC_Het=10479;ExAC.Info.AC_Hom=746;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1168-19T>G;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1168A>C;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1168A>C;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1168A>C;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1168A>C;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1168A>C;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358595;SAVANT_GENE=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;SAVANT_INFO=-/67.1kb/22/4.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1168-19T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNT+c.1168-19T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150799112">View</a>	GT:AD:DP:GQ:PL:TP	0|0:22,0:22:66:0,66,782:64	0|1:25,13:38:99:327,0,868:64	0|0:23,0:23:69:0,69,898:64
1	150804401	.	GA	GAA	2095.29	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;OMIM_phenotypes.name=Leukemia|_acute_myeloblastic_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.870-23_870-24insT;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000358595;SAVANT_GENE=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;SAVANT_INFO=-/67.1kb/22/4.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.870-23dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNT+c.870-23dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150804401">View</a>	GT:AD:DP:GQ:PL	0/1:18,17:54:16:208,0,486	./0:33,16:78:99:434,297,1140	0/1:29,26:77:99:353,0,701
1	150804401	.	GA	G	2095.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;OMIM_phenotypes.name=Leukemia|_acute_myeloblastic_(3);dbSNP139.ID=rs34083816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34083816" target="_blank">rs34083816</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.870-23delT;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000358595;SAVANT_GENE=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;SAVANT_INFO=-/67.1kb/22/4.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.870-23delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNT+c.870-23delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150804401">View</a>	GT:AD:DP:GQ:PL	./0:18,19:54:16:208,16,512	0/1:33,29:78:99:434,0,910	./0:29,22:77:99:353,102,978
1	150804429	.	A	C	6367.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Leukemia|_acute_myeloblastic_(3);dbSNP139.ID=rs10305704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10305704" target="_blank">rs10305704</a>;ExAC.Info.AC=46570;ExAC.Info.AN=125942;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=25375;ExAC.Info.AC_Hom=7947;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.870-50T>G;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358595;SAVANT_GENE=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;SAVANT_INFO=-/67.1kb/22/4.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.870-50T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNT+c.870-50T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150804429">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,18:47:99:464,0,868:127	0/1:39,35:74:99:1089,0,1146:127	0/1:36,34:70:99:1161,0,1066:127
1	150808889	.	C	G	9088.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Leukemia|_acute_myeloblastic_(3);dbSNP139.ID=rs2228099;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228099" target="_blank">rs2228099</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=51566;ExAC.Info.AN=126700;ExAC.Info.AF=0.407;ExAC.Info.AC_Het=29753;ExAC.Info.AC_Hom=10829;snpeff.Effect=sequence_feature[domain:PAS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567C>G;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567C>G;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567C>G;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtC;snpeff.Amino_Acid_Change=p.Val189Val/c.567G>C;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358595;SAVANT_GENE=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;SAVANT_INFO=-/67.1kb/22/4.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.567G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNT+c.567G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150808889">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,31:68:99:993,0,1067:127	0/1:55,48:103:99:1448,0,1659:127	0/1:30,47:77:99:1594,0,928:127
1	150833805	.	C	CA	199.83	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=26;MQ=70.14;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Leukemia|_acute_myeloblastic_(3);dbSNP139.ID=rs139885151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139885151" target="_blank">rs139885151</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.26-2869_26-2870insT;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000358595;SAVANT_GENE=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;SAVANT_INFO=-/67.1kb/22/4.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.26-2870dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNT+c.26-2870dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150833805">View</a>	GT:AD:DP:GQ:PL:TP	0|0:5,0:5:15:0,15,140:14	0|1:7,6:13:99:123,0,155:14	0|0:8,0:8:24:0,24,221:14
1	150849071	.	ACC	A	607.4	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=9;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=./.;OMIM_phenotypes.name=Leukemia|_acute_myeloblastic_(3);dbSNP139.ID=rs66776757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66776757" target="_blank">rs66776757</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=29;snpeff.Amino_Acid_Change=c.-30_-31delGG;snpeff.Amino_Acid_length=789;snpeff.Gene_Name=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358595;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000358595;SAVANT_GENE=ARNT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT" target="_blank">ARNT</a>;SAVANT_INFO=-/67.1kb/22/4.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-30_-29delGG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNT+c.-30_-29delGG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150849071">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,3:3:9:116,9,0:6	./.	1|1:2,4:6:8:143,8,0:6
1	150923099	.	T	C	2548.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17661357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17661357" target="_blank">rs17661357</a>;ExAC.Info.AC=7598;ExAC.Info.AN=126704;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=7031;ExAC.Info.AC_Hom=282;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys582Cys/c.1746T>C;snpeff.Amino_Acid_length=1291;snpeff.Gene_Name=SETDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SETDB1" target="_blank">SETDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271640;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271640;SAVANT_GENE=SETDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SETDB1" target="_blank">SETDB1</a>;SAVANT_INFO=+/38.4kb/22/4.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1746T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SETDB1+c.1746T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150923099">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,2748:127	0|0:107,0:107:99:0,322,3699:127	0|1:42,50:92:99:1293,0,1015:127
1	150923774	.	T	A	3623.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2124952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2124952" target="_blank">rs2124952</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2214-67T>A;snpeff.Amino_Acid_length=1291;snpeff.Gene_Name=SETDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SETDB1" target="_blank">SETDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271640;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Pre-SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2214T>A;snpeff.Amino_Acid_length=1291;snpeff.Gene_Name=SETDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SETDB1" target="_blank">SETDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271640;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Pre-SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2214T>A;snpeff.Amino_Acid_length=1291;snpeff.Gene_Name=SETDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SETDB1" target="_blank">SETDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271640;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Pre-SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2214T>A;snpeff.Amino_Acid_length=1291;snpeff.Gene_Name=SETDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SETDB1" target="_blank">SETDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271640;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271640;SAVANT_GENE=SETDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SETDB1" target="_blank">SETDB1</a>;SAVANT_INFO=+/38.4kb/22/4.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2214-67T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SETDB1+c.2214-67T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150923774">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,19:31:99:657,0,346:127	0/1:19,15:34:99:461,0,528:127	0/1:20,21:41:99:585,0,604:127
1	150938616	.	G	A	10740.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs267739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=267739" target="_blank">rs267739</a>;ExAC.Info.AC=125960;ExAC.Info.AN=126700;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=708;ExAC.Info.AC_Hom=62532;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.515G>A;snpeff.Gene_Name=RP11-316M1.12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-316M112" target="_blank">RP11-316M112</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000561111;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.*8C>T;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=CERS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-316M112" target="_blank">RP11-316M112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271688;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271688;SAVANT_GENE=CERS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CERS2" target="_blank">CERS2</a>;SAVANT_INFO=-/9.8kb/11/2.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*8C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CERS2+c.*8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150938616">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1182,99,0:101	1|1:0,52:52:99:1829,156,0:101	1|1:0,34:34:99:1225,102,0:101
1	150939744	.	C	A	6336.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11204750;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11204750" target="_blank">rs11204750</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.613-66G>T;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=CERS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CERS2" target="_blank">CERS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271688;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271688;SAVANT_GENE=CERS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CERS2" target="_blank">CERS2</a>;SAVANT_INFO=-/9.8kb/11/2.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.613-66G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CERS2+c.613-66G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150939744">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,31:46:99:872,0,416:127	0/1:20,42:62:99:1318,0,607:127	0/1:18,21:39:99:654,0,604:127
1	150958836	.	A	G	2396.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs267733;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=267733" target="_blank">rs267733</a>;ExAC.Info.AC=14765;ExAC.Info.AN=126700;ExAC.Info.AF=0.117;ExAC.Info.AC_Het=12726;ExAC.Info.AC_Hom=1003;snpeff.Effect=sequence_feature[repeat:Annexin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=ANXA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA9" target="_blank">ANXA9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368947;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Annexin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=ANXA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA9" target="_blank">ANXA9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368947;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Annexin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=ANXA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA9" target="_blank">ANXA9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368947;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp166Gly/c.497A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=ANXA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA9" target="_blank">ANXA9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368947;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368947;SAVANT_GENE=ANXA9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA9" target="_blank">ANXA9</a>;SAVANT_INFO=+/13.6kb/14/1.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.497A>G_p.Asp166Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANXA9+c.497A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150958836">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,264,2862:127	0|1:48,42:90:99:1217,0,1258:127	0|0:77,0:77:99:0,231,2628:127
1	150969992	.	T	C	30432.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2925740;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2925740" target="_blank">rs2925740</a>;ExAC.Info.AC=113903;ExAC.Info.AN=123568;ExAC.Info.AF=0.922;ExAC.Info.AC_Het=4287;ExAC.Info.AC_Hom=33934;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1473+108A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=FAM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM63A" target="_blank">FAM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361738;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361738;SAVANT_GENE=FAM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM63A" target="_blank">FAM63A</a>;SAVANT_INFO=-/11.3kb/11/2.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1473+108A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM63A+c.1473+108A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150969992">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3826,319,0:127	1|1:0,147:147:99:5136,441,0:127	1|1:0,108:108:99:3796,325,0:127
1	150974162	.	G	A	11178.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs771204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=771204" target="_blank">rs771204</a>;ExAC.Info.AC=105872;ExAC.Info.AN=126704;ExAC.Info.AF=0.836;ExAC.Info.AC_Het=17056;ExAC.Info.AC_Hom=44323;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.655+39C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=FAM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM63A" target="_blank">FAM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361738;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361738;SAVANT_GENE=FAM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM63A" target="_blank">FAM63A</a>;SAVANT_INFO=-/11.3kb/11/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.655+39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM63A+c.655+39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150974162">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1747,156,0:127	1|1:0,63:63:99:2056,189,0:127	1|0:25,18:43:99:466,0,664:127
1	150975108	.	T	C	12169.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs771205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=771205" target="_blank">rs771205</a>;ExAC.Info.AC=114463;ExAC.Info.AN=126664;ExAC.Info.AF=0.904;ExAC.Info.AC_Het=7918;ExAC.Info.AC_Hom=52946;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys44Glu/c.130A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=FAM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM63A" target="_blank">FAM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361738;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361738;SAVANT_GENE=FAM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM63A" target="_blank">FAM63A</a>;SAVANT_INFO=-/11.3kb/11/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.130A>G_p.Lys44Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM63A+c.130A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150975108">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:1961,174,0:127	1|1:0,48:48:99:1725,144,0:127	1|1:0,43:43:99:1483,129,0:127
1	150990466	.	C	CAT	14056.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=122;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs71090118;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71090118" target="_blank">rs71090118</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.132+87_132+88insAT;snpeff.Amino_Acid_length=453;snpeff.Gene_Name=PRUNE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRUNE" target="_blank">PRUNE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271620;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271620;SAVANT_GENE=PRUNE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRUNE" target="_blank">PRUNE</a>;SAVANT_INFO=+/27.2kb/8/3.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.132+87_132+88dupAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRUNE+c.132+87_132+88dupAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150990466">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1888,129,0:104	1|1:0,44:44:99:1967,132,0:104	1|1:0,35:35:99:1569,105,0:104
1	150999737	.	A	G	1750.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11204762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11204762" target="_blank">rs11204762</a>;ExAC.Info.AC=32086;ExAC.Info.AN=126704;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=23133;ExAC.Info.AC_Hom=4450;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys236Lys/c.708A>G;snpeff.Amino_Acid_length=453;snpeff.Gene_Name=PRUNE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRUNE" target="_blank">PRUNE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271620;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271620;SAVANT_GENE=PRUNE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRUNE" target="_blank">PRUNE</a>;SAVANT_INFO=+/27.2kb/8/3.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.708A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRUNE+c.708A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150999737">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1810:127	0|1:39,28:67:99:894,0,1107:127	0|0:60,0:60:99:0,180,2147:127
1	150999863	.	A	G	8642.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs55717234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55717234" target="_blank">rs55717234</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.774+60A>G;snpeff.Amino_Acid_length=453;snpeff.Gene_Name=PRUNE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRUNE" target="_blank">PRUNE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271620;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271620;SAVANT_GENE=PRUNE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRUNE" target="_blank">PRUNE</a>;SAVANT_INFO=+/27.2kb/8/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.774+60A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRUNE+c.774+60A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:150999863">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1591,135,0:127	1|1:0,52:52:99:1864,156,0:127	1|0:16,16:32:99:560,0,499:127
1	151006406	.	C	G	1696.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72706548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72706548" target="_blank">rs72706548</a>;ExAC.Info.AC=463;ExAC.Info.AN=126704;ExAC.Info.AF=3.654e-03;ExAC.Info.AC_Het=461;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cGc;snpeff.Amino_Acid_Change=p.Pro353Arg/c.1058C>G;snpeff.Amino_Acid_length=453;snpeff.Gene_Name=PRUNE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRUNE" target="_blank">PRUNE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271620;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271620;SAVANT_GENE=PRUNE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRUNE" target="_blank">PRUNE</a>;SAVANT_INFO=+/27.2kb/8/3.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1058C>G_p.Pro353Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRUNE+c.1058C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151006406">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2353:127	0|0:75,0:75:99:0,225,2610:127	0|1:29,30:59:99:867,0,829:127
1	151006539	.	C	A	21893.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3738476;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738476" target="_blank">rs3738476</a>;ExAC.Info.AC=107088;ExAC.Info.AN=126704;ExAC.Info.AF=0.845;ExAC.Info.AC_Het=16289;ExAC.Info.AC_Hom=45395;snpeff.Effect=sequence_feature[region_of_interest:Essential_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1191C>A;snpeff.Amino_Acid_length=453;snpeff.Gene_Name=PRUNE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRUNE" target="_blank">PRUNE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271620;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly397Gly/c.1191C>A;snpeff.Amino_Acid_length=453;snpeff.Gene_Name=PRUNE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRUNE" target="_blank">PRUNE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271620;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271620;SAVANT_GENE=PRUNE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRUNE" target="_blank">PRUNE</a>;SAVANT_INFO=+/27.2kb/8/3.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1191C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRUNE+c.1191C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151006539">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:2600,255,0:127	1|1:0,92:92:99:3242,277,0:127	1|1:0,76:76:99:2631,228,0:127
1	151010934	.	G	A	1890.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12119096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12119096" target="_blank">rs12119096</a>;ExAC.Info.AC=118;ExAC.Info.AN=125700;ExAC.Info.AF=9.387e-04;ExAC.Info.AC_Het=118;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.138-46G>A;snpeff.Amino_Acid_length=357;snpeff.Gene_Name=BNIPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BNIPL" target="_blank">BNIPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368931;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368931;SAVANT_GENE=BNIPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BNIPL" target="_blank">BNIPL</a>;SAVANT_INFO=+/11.0kb/10/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.138-46G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BNIPL+c.138-46G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151010934">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,8:16:99:232,0,288:54	0|0:18,0:18:54:0,54,739:54	1|0:10,18:28:99:495,0,314:54
1	151019180	.	A	G	9110.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs6587553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587553" target="_blank">rs6587553</a>;ExAC.Info.AC=102938;ExAC.Info.AN=126704;ExAC.Info.AF=0.812;ExAC.Info.AC_Het=18963;ExAC.Info.AC_Hom=41972;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=17;snpeff.Amino_Acid_Change=c.*17A>G;snpeff.Amino_Acid_length=357;snpeff.Gene_Name=BNIPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BNIPL" target="_blank">BNIPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368931;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368931;SAVANT_GENE=BNIPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BNIPL" target="_blank">BNIPL</a>;SAVANT_INFO=+/11.0kb/10/2.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*17A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BNIPL+c.*17A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151019180">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,26:57:99:709,0,999:127	0|1:31,39:70:99:1293,0,962:127	1|1:0,60:60:99:2230,180,0:127
1	151026815	.	C	T	22624.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=499;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2902810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2902810" target="_blank">rs2902810</a>;ExAC.Info.AC=102036;ExAC.Info.AN=126704;ExAC.Info.AF=0.805;ExAC.Info.AC_Het=19433;ExAC.Info.AC_Hom=41290;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.166-18G>A;snpeff.Amino_Acid_length=79;snpeff.Gene_Name=CDC42SE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42SE1" target="_blank">CDC42SE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357235;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540998;SAVANT_GENE=CDC42SE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42SE1" target="_blank">CDC42SE1</a>;SAVANT_INFO=-/8.7kb/6/3.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.166-18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42SE1+c.166-18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151026815">View</a>	GT:AD:DP:GQ:PL:TP	1|0:85,77:162:99:1964,0,2291:127	0|1:84,99:183:99:2854,0,2288:127	1|1:0,154:154:99:5366,463,0:127
1	151104950	.	G	A	8178.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10788800;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10788800" target="_blank">rs10788800</a>;ExAC.Info.AC=21607;ExAC.Info.AN=39424;ExAC.Info.AF=0.548;ExAC.Info.AC_Het=3080;ExAC.Info.AC_Hom=3960;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.*10C>T;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368913;SAVANT_GENE=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;SAVANT_INFO=-/14.8kb/20/3.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*10C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA6C+c.*10C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151104950">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,27:51:99:800,0,818:127	0|1:25,37:62:99:1143,0,846:127	1|1:0,54:54:99:1995,162,0:127
1	151105076	.	G	A	7008.03	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75585997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75585997" target="_blank">rs75585997</a>;ExAC.Info.AC=1;ExAC.Info.AN=101610;ExAC.Info.AF=9.842e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg925Trp/c.2773C>T;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368913;SAVANT_GENE=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;SAVANT_INFO=-/14.8kb/20/3.8kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2773C>T_p.Arg925Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA6C+c.2773C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151105076">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,48:102:99:1287,0,1520:127	1|0:51,44:95:99:1287,0,1558:127	0|0:106,0:106:99:0,318,3887:127
1	151105824	.	C	G	4934.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4971006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4971006" target="_blank">rs4971006</a>;ExAC.Info.AC=96575;ExAC.Info.AN=122780;ExAC.Info.AF=0.787;ExAC.Info.AC_Het=14943;ExAC.Info.AC_Hom=32155;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2025C>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro675Pro/c.2025G>C;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368913;SAVANT_GENE=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;SAVANT_INFO=-/14.8kb/20/3.8kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2025G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA6C+c.2025G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151105824">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,27:46:99:734,0,433:108	0|1:13,17:30:99:545,0,377:108	1|1:0,36:36:99:1124,108,0:108
1	151108137	.	T	G	16257.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4971007;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4971007" target="_blank">rs4971007</a>;ExAC.Info.AC=103651;ExAC.Info.AN=126702;ExAC.Info.AF=0.818;ExAC.Info.AC_Het=18596;ExAC.Info.AC_Hom=42497;snpeff.Effect=TF_binding_site_variant[MA0139.1:CTCF];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1363T>G;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Ccc;snpeff.Amino_Acid_Change=p.Thr455Pro/c.1363A>C;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368913;SAVANT_GENE=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;SAVANT_INFO=-/14.8kb/20/3.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1363A>C_p.Thr455Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA6C+c.1363A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151108137">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,57:112:99:1620,0,1410:127	0|1:62,61:123:99:1761,0,1705:127	1|1:0,102:102:99:3447,305,0:127
1	151110832	.	G	A	7169.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72708441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72708441" target="_blank">rs72708441</a>;ExAC.Info.AC=7113;ExAC.Info.AN=126700;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=6532;ExAC.Info.AC_Hom=261;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.507G>A;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys169Cys/c.507C>T;snpeff.Amino_Acid_length=962;snpeff.Gene_Name=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368913;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368913;SAVANT_GENE=SEMA6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA6C" target="_blank">SEMA6C</a>;SAVANT_INFO=-/14.8kb/20/3.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.507C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA6C+c.507C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151110832">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,60:102:99:1431,0,1025:127	0|0:113,0:113:99:0,339,3798:127	1|0:35,52:87:99:1375,0,932:127
1	151139073	.	CT	C	275.61	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=58;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs78216774;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78216774" target="_blank">rs78216774</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.122+57delT;snpeff.Amino_Acid_length=230;snpeff.Gene_Name=SCNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCNM1" target="_blank">SCNM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368905;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368905;SAVANT_GENE=SCNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCNM1" target="_blank">SCNM1</a>;SAVANT_INFO=+/4.3kb/7/2.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.122+70delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCNM1+c.122+70delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151139073">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,6:17:59:59,0,206:25	0|0:19,2:21:25:0,25,408:25	1|0:15,5:20:73:73,0,301:25
1	151146186	.	C	G	7946.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7552226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7552226" target="_blank">rs7552226</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=VPS72;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS72" target="_blank">VPS72</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.281-95G>C;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=TMOD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS72" target="_blank">VPS72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295314;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295314;SAVANT_GENE=TMOD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMOD4" target="_blank">TMOD4</a>;SAVANT_INFO=-/6.0kb/10/1.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.281-95G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMOD4+c.281-95G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151146186">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:1065,78,0:71	1|1:0,36:36:99:1434,108,0:71	1|1:0,24:24:72:966,72,0:71
1	151209063	.	C	T	46557.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=627;MQ=69.91;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12407426;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12407426" target="_blank">rs12407426</a>;ExAC.Info.AC=83733;ExAC.Info.AN=126696;ExAC.Info.AF=0.661;ExAC.Info.AC_Het=28007;ExAC.Info.AC_Hom=27766;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr323Tyr/c.969C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368888;SAVANT_GENE=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;SAVANT_INFO=+/49.3kb/16/2.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.969C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIP5K1A+c.969C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151209063">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,202:202:99:6254,606,0:127	1|1:0,197:197:99:6378,592,0:127	1|1:0,228:228:99:7246,685,0:127
1	151210789	.	C	T	49520.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=621;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7532935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7532935" target="_blank">rs7532935</a>;ExAC.Info.AC=81433;ExAC.Info.AN=126678;ExAC.Info.AF=0.643;ExAC.Info.AC_Het=28473;ExAC.Info.AC_Hom=26199;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1229+48C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1230C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1230C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1230C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1230C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1230C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1230C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1230C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1230C>T;snpeff.Amino_Acid_length=562;snpeff.Gene_Name=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368888;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368888;SAVANT_GENE=PIP5K1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP5K1A" target="_blank">PIP5K1A</a>;SAVANT_INFO=+/49.3kb/16/2.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1229+48C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIP5K1A+c.1229+48C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151210789">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,200:200:99:6521,601,0:127	1|1:0,211:211:99:7231,634,0:127	1|1:0,210:210:99:6931,631,0:127
1	151237589	.	TC	T	4840.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3216063;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3216063" target="_blank">rs3216063</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.370-52delC;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=PSMD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD4" target="_blank">PSMD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368881;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368884;SAVANT_GENE=PSMD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD4" target="_blank">PSMD4</a>;SAVANT_INFO=+/12.8kb/10/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.370-46delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD4+c.370-46delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151237589">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,27:28:79:805,79,0:62	1|1:0,23:23:69:709,69,0:62	1|1:0,21:21:63:647,63,0:62
1	151239051	.	T	C	10805.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7489" target="_blank">rs7489</a>;ExAC.Info.AC=83724;ExAC.Info.AN=126702;ExAC.Info.AF=0.661;ExAC.Info.AC_Het=27988;ExAC.Info.AC_Hom=27768;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser320Ser/c.960T>C;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=PSMD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD4" target="_blank">PSMD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368881;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368884;SAVANT_GENE=PSMD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD4" target="_blank">PSMD4</a>;SAVANT_INFO=+/12.8kb/10/1.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.951T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD4+c.951T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151239051">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1262,111,0:122	1|1:0,41:41:99:1397,123,0:122	1|1:0,46:46:99:1644,138,0:122
1	151254036	.	T	A	1396.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11587537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11587537" target="_blank">rs11587537</a>;ExAC.Info.AC=657;ExAC.Info.AN=23792;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=582;ExAC.Info.AC_Hom=10;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Tgg;snpeff.Amino_Acid_Change=p.Arg34Trp/c.100A>T;snpeff.Amino_Acid_length=59;snpeff.Gene_Name=RP11-126K1.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-126K12" target="_blank">RP11-126K12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447795;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000447795;SAVANT_GENE=RP11-126K1.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-126K12" target="_blank">RP11-126K12</a>;SAVANT_INFO=-/1.9kb/2/0.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.100A>T_p.Arg34Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-126K12+c.100A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151254036">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,862:72	0|1:16,10:26:99:291,0,515:72	0|1:13,15:28:99:427,0,371:72
1	151254041	.	T	C	7788.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3811406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811406" target="_blank">rs3811406</a>;ExAC.Info.AC=15646;ExAC.Info.AN=21968;ExAC.Info.AF=0.712;ExAC.Info.AC_Het=3460;ExAC.Info.AC_Hom=4996;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His32Arg/c.95A>G;snpeff.Amino_Acid_length=59;snpeff.Gene_Name=RP11-126K1.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-126K12" target="_blank">RP11-126K12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447795;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000447795;SAVANT_GENE=RP11-126K1.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-126K12" target="_blank">RP11-126K12</a>;SAVANT_INFO=-/1.9kb/2/0.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.95A>G_p.His32Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-126K12+c.95A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151254041">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:951,75,0:80	1|1:0,27:27:81:1081,81,0:80	1|1:0,29:29:87:1170,87,0:80
1	151263677	.	G	GACA	4332.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=115;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs145032688;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145032688" target="_blank">rs145032688</a>;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gac/gACAac;snpeff.Amino_Acid_Change=p.Asp1236_Asn1237insAspAsn/c.3707_3708insACA;snpeff.Amino_Acid_length=1237;snpeff.Gene_Name=ZNF687;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF687" target="_blank">ZNF687</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324048;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000324048;SAVANT_GENE=ZNF687;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF687" target="_blank">ZNF687</a>;SAVANT_INFO=+/9.6kb/10/5.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.3709_3711dupAAC_p.X1238AsnextX1;SAVANT_EFFECT=STOP_LOSS;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SL;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF687+c.3709_3711dupAAC+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151263677">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,17:25:99:690,0,339:127	1|0:21,23:44:99:867,0,955:127	0|0:46,0:46:99:0,139,2302:127
1	151288172	.	G	A	11824.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1056847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1056847" target="_blank">rs1056847</a>;ExAC.Info.AC=75064;ExAC.Info.AN=126704;ExAC.Info.AF=0.592;ExAC.Info.AC_Het=29633;ExAC.Info.AC_Hom=22700;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp274Asp/c.822C>T;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=PI4KB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4KB" target="_blank">PI4KB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271657;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368875;SAVANT_GENE=PI4KB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4KB" target="_blank">PI4KB</a>;SAVANT_INFO=-/35.7kb/13/4.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.822C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PI4KB+c.822C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151288172">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1886,171,0:127	1|1:0,44:44:99:1575,132,0:127	1|1:0,46:46:99:1695,138,0:127
1	151288391	.	A	G	24232.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1752379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1752379" target="_blank">rs1752379</a>;ExAC.Info.AC=125868;ExAC.Info.AN=126692;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=770;ExAC.Info.AC_Hom=62474;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp201Asp/c.603T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=PI4KB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4KB" target="_blank">PI4KB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271657;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368875;SAVANT_GENE=PI4KB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4KB" target="_blank">PI4KB</a>;SAVANT_INFO=-/35.7kb/13/4.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.603T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PI4KB+c.603T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151288391">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2814,246,0:127	1|1:0,112:112:99:3926,336,0:127	1|1:0,94:94:99:3290,282,0:127
1	151337703	.	C	T	6033.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72710112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72710112" target="_blank">rs72710112</a>;cosmic68.Histology_subtype=acute_myeloid_leukaemia;ExAC.Info.AC=1146;ExAC.Info.AN=126700;ExAC.Info.AF=9.045e-03;ExAC.Info.AC_Het=1121;ExAC.Info.AC_Hom=8;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu409Lys/c.1225G>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SELENBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELENBP1" target="_blank">SELENBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426705;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368868;SAVANT_GENE=SELENBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELENBP1" target="_blank">SELENBP1</a>;SAVANT_INFO=-/8.4kb/12/1.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1099G>A_p.Glu367Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELENBP1+c.1099G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151337703">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,41:66:99:1187,0,634:127	0|0:81,0:81:99:0,243,2909:127	1|0:28,34:62:99:1084,0,782:127
1	151337788	.	A	G	7994.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10788804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10788804" target="_blank">rs10788804</a>;ExAC.Info.AC=73779;ExAC.Info.AN=126466;ExAC.Info.AF=0.583;ExAC.Info.AC_Het=27038;ExAC.Info.AC_Hom=20102;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1171-31T>C;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SELENBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELENBP1" target="_blank">SELENBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426705;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368868;SAVANT_GENE=SELENBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELENBP1" target="_blank">SELENBP1</a>;SAVANT_INFO=-/8.4kb/12/1.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1045-31T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELENBP1+c.1045-31T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151337788">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1008,87,0:77	1|1:0,35:35:99:1312,105,0:77	1|1:0,26:26:78:874,78,0:77
1	151340830	.	A	G	4623.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72710113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72710113" target="_blank">rs72710113</a>;ExAC.Info.AC=1808;ExAC.Info.AN=126702;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1766;ExAC.Info.AC_Hom=17;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.487-35T>C;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SELENBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELENBP1" target="_blank">SELENBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426705;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368868;SAVANT_GENE=SELENBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELENBP1" target="_blank">SELENBP1</a>;SAVANT_INFO=-/8.4kb/12/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.361-35T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELENBP1+c.361-35T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151340830">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,30:53:99:908,0,601:127	0|0:95,0:95:99:0,286,3377:127	1|0:38,38:76:99:1036,0,1122:127
1	151342263	.	C	T	3324.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41285000;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41285000" target="_blank">rs41285000</a>;ExAC.Info.AC=1026;ExAC.Info.AN=86532;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=555;ExAC.Info.AC_Hom=7;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg38His/c.113G>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SELENBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELENBP1" target="_blank">SELENBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426705;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368868;SAVANT_GENE=SELENBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELENBP1" target="_blank">SELENBP1</a>;SAVANT_INFO=-/8.4kb/12/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.5-18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELENBP1+c.5-18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151342263">View</a>	GT:AD:DP:GQ:PL:TP	0|0:134,0:134:99:0,401,4245:127	0|0:170,0:170:99:0,510,5465:127	0|1:70,60:130:99:1681,0,1861:127
1	151372138	.	G	A	9826.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7172" target="_blank">rs7172</a>;ExAC.Info.AC=85441;ExAC.Info.AN=126702;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=21909;ExAC.Info.AC_Hom=31700;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.75G>A;snpeff.Amino_Acid_length=264;snpeff.Gene_Name=PSMB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMB4" target="_blank">PSMB4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290541;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro25Pro/c.75G>A;snpeff.Amino_Acid_length=264;snpeff.Gene_Name=PSMB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMB4" target="_blank">PSMB4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290541;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290541;SAVANT_GENE=PSMB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMB4" target="_blank">PSMB4</a>;SAVANT_INFO=+/2.4kb/7/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.75G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMB4+c.75G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151372138">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1342,120,0:120	1|0:24,30:54:99:809,0,749:120	1|1:0,61:61:99:2072,183,0:120
1	151373200	.	T	C	17203.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2495391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2495391" target="_blank">rs2495391</a>;ExAC.Info.AC=125737;ExAC.Info.AN=126698;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=889;ExAC.Info.AC_Hom=62408;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.495-40T>C;snpeff.Amino_Acid_length=264;snpeff.Gene_Name=PSMB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMB4" target="_blank">PSMB4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290541;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290541;SAVANT_GENE=PSMB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMB4" target="_blank">PSMB4</a>;SAVANT_INFO=+/2.4kb/7/1.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.495-40T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMB4+c.495-40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151373200">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1972,168,0:127	1|1:0,83:83:99:2986,249,0:127	1|1:0,66:66:99:2496,199,0:127
1	151374025	.	T	C	5552.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=546;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4603;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4603" target="_blank">rs4603</a>;ExAC.Info.AC=24542;ExAC.Info.AN=126704;ExAC.Info.AF=0.194;ExAC.Info.AC_Het=18961;ExAC.Info.AC_Hom=2790;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile234Thr/c.701T>C;snpeff.Amino_Acid_length=264;snpeff.Gene_Name=PSMB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMB4" target="_blank">PSMB4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290541;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290541;SAVANT_GENE=PSMB4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMB4" target="_blank">PSMB4</a>;SAVANT_INFO=+/2.4kb/7/1.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.701T>C_p.Ile234Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMB4+c.701T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151374025">View</a>	GT:AD:DP:GQ:PL:TP	0|0:187,0:187:99:0,562,6031:127	0|1:98,91:189:99:2795,0,2667:127	0|0:170,0:170:99:0,510,5620:127
1	151377248	.	T	C	20125.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6667714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6667714" target="_blank">rs6667714</a>;ExAC.Info.AC=124968;ExAC.Info.AN=125940;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=835;ExAC.Info.AC_Hom=57393;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=30;snpeff.Amino_Acid_Change=c.*30A>G;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271715;SAVANT_GENE=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;SAVANT_INFO=-/56.7kb/19/6.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*30A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POGZ+c.*30A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151377248">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:3247,262,0:127	1|1:0,90:90:99:3239,271,0:127	1|1:0,71:71:99:2702,214,0:127
1	151379250	.	G	A	13240.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2274535;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274535" target="_blank">rs2274535</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2545+137C>T;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_CBX5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546G>A;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_CBX5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546G>A;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_CBX5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546G>A;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271715;SAVANT_GENE=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;SAVANT_INFO=-/56.7kb/19/6.6kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2545+137C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POGZ+c.2545+137C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151379250">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2147,168,0:127	1|0:37,42:79:99:1414,0,1131:127	1|1:0,66:66:99:2550,199,0:127
1	151381320	.	GA	G	15526.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3831142;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3831142" target="_blank">rs3831142</a>;ExAC.Info.AC=85369;ExAC.Info.AN=126690;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=21834;ExAC.Info.AC_Hom=31648;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1927-17delT;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271715;SAVANT_GENE=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;SAVANT_INFO=-/56.7kb/19/6.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1927-17delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=POGZ+c.1927-17delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151381320">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:3436,345,0:127	1|0:57,54:111:99:1306,0,1436:127	1|1:0,78:78:99:2361,235,0:127
1	151384733	.	G	A	14281.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3748550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748550" target="_blank">rs3748550</a>;ExAC.Info.AC=101041;ExAC.Info.AN=126662;ExAC.Info.AF=0.798;ExAC.Info.AC_Het=19400;ExAC.Info.AC_Hom=40019;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1779+39C>T;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1780G>A;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1780G>A;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271715;SAVANT_GENE=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;SAVANT_INFO=-/56.7kb/19/6.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1779+39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POGZ+c.1779+39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151384733">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2120,198,0:127	1|0:57,42:99:99:1072,0,1695:127	1|1:0,80:80:99:2703,240,0:127
1	151396037	.	A	C	17518.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2274534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274534" target="_blank">rs2274534</a>;ExAC.Info.AC=85330;ExAC.Info.AN=126678;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=21938;ExAC.Info.AC_Hom=31630;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1524-10T>G;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524A>C;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524A>C;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271715;SAVANT_GENE=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;SAVANT_INFO=-/56.7kb/19/6.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1524-10T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POGZ+c.1524-10T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151396037">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2986,264,0:127	1|0:71,49:120:99:1333,0,2163:127	1|1:0,98:98:99:3329,295,0:127
1	151402045	.	A	G	23574.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6587577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587577" target="_blank">rs6587577</a>;ExAC.Info.AC=100426;ExAC.Info.AN=126670;ExAC.Info.AF=0.793;ExAC.Info.AC_Het=20020;ExAC.Info.AC_Hom=40100;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.568+34T>C;snpeff.Amino_Acid_length=1410;snpeff.Gene_Name=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271715;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271715;SAVANT_GENE=POGZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGZ" target="_blank">POGZ</a>;SAVANT_INFO=-/56.7kb/19/6.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.568+34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POGZ+c.568+34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151402045">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:3153,273,0:127	1|0:75,80:155:99:2295,0,2362:127	1|1:0,130:130:99:4490,391,0:127
1	151497140	.	T	C	1028.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1573130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1573130" target="_blank">rs1573130</a>;ExAC.Info.AC=37606;ExAC.Info.AN=126472;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=20207;ExAC.Info.AC_Hom=7249;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1402-10T>C;snpeff.Amino_Acid_length=1203;snpeff.Gene_Name=CGN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CGN" target="_blank">CGN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271636;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271636;SAVANT_GENE=CGN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CGN" target="_blank">CGN</a>;SAVANT_INFO=+/27.3kb/21/5.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1402-10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CGN+c.1402-10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151497140">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,9:29:99:221,0,562:81	0|0:27,0:27:81:0,81,911:81	1|0:17,6:23:99:179,0,509:81
1	151538784	.	TTC	T	2108.25	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=78;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=0/0;dbSNP139.ID=rs201554325;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201554325" target="_blank">rs201554325</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.537+81_537+82delTC;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=TUFT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUFT1" target="_blank">TUFT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538902;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368849;SAVANT_GENE=TUFT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUFT1" target="_blank">TUFT1</a>;SAVANT_INFO=+/43.3kb/13/3.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.480+99_480+100delTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUFT1+c.480+99_480+100delTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151538784">View</a>	GT:AD:DP:GQ:PL	./0:14,0:24:99:281,352,895	0/0:28,0:28:85:0,90,1047	./1:2,11:26:99:680,352,511
1	151538784	.	TTC	TTCTC	2108.25	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=78;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=0/0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.537+83_537+84insTC;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=TUFT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUFT1" target="_blank">TUFT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538902;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368849;SAVANT_GENE=TUFT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUFT1" target="_blank">TUFT1</a>;SAVANT_INFO=+/43.3kb/13/3.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.480+99_480+100dupTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUFT1+c.480+99_480+100dupTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151538784">View</a>	GT:AD:DP:GQ:PL	0/1:14,10:24:99:281,0,424	0/0:28,0:28:85:0,85,997	./1:2,13:26:99:680,329,423
1	151542099	.	G	T	4968.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3748610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748610" target="_blank">rs3748610</a>;ExAC.Info.AC=75795;ExAC.Info.AN=126694;ExAC.Info.AF=0.598;ExAC.Info.AC_Het=28836;ExAC.Info.AC_Hom=23412;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.538-34G>T;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=TUFT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUFT1" target="_blank">TUFT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538902;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368849;SAVANT_GENE=TUFT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUFT1" target="_blank">TUFT1</a>;SAVANT_INFO=+/43.3kb/13/3.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.481-34G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUFT1+c.481-34G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151542099">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,20:44:99:521,0,694:127	0/1:34,31:65:99:918,0,1033:127	0/1:35,16:51:99:390,0,1120:127
1	151551320	.	G	A	4195.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3748608;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748608" target="_blank">rs3748608</a>;ExAC.Info.AC=57218;ExAC.Info.AN=111978;ExAC.Info.AF=0.511;ExAC.Info.AC_Het=7326;ExAC.Info.AC_Hom=5625;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.981+18G>A;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=TUFT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUFT1" target="_blank">TUFT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538902;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368849;SAVANT_GENE=TUFT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUFT1" target="_blank">TUFT1</a>;SAVANT_INFO=+/43.3kb/13/3.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.924+18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUFT1+c.924+18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151551320">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,15:37:99:358,0,640:127	0/1:23,20:43:99:546,0,739:127	0/1:19,28:47:99:759,0,550:127
1	151554503	.	T	C	4142.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1891592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1891592" target="_blank">rs1891592</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=320;snpeff.Amino_Acid_Change=c.*320T>C;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=TUFT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUFT1" target="_blank">TUFT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538902;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368849;SAVANT_GENE=TUFT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUFT1" target="_blank">TUFT1</a>;SAVANT_INFO=+/43.3kb/13/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*320T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUFT1+c.*320T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151554503">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,26:51:99:818,0,726:127	0/1:28,16:44:99:532,0,842:127	0/1:16,16:32:99:528,0,487:127
1	151675618	.	T	C	12250.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1308150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1308150" target="_blank">rs1308150</a>;ExAC.Info.AC=92848;ExAC.Info.AN=93868;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=120;ExAC.Info.AC_Hom=10854;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.113+2004T>C;snpeff.Gene_Name=RP11-98D18.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-98D181" target="_blank">RP11-98D181</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000457548;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1899;snpeff.Amino_Acid_Change=c.*317A>G;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=CELF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-98D181" target="_blank">RP11-98D181</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000420342;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000290583;SAVANT_GENE=CELF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF3" target="_blank">CELF3</a>;SAVANT_INFO=-/14.4kb/13/3.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1899A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF3+c.*1899A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151675618">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1792,165,0:127	1|1:0,49:49:99:1754,147,0:127	1|1:0,43:43:99:1424,129,0:127
1	151681567	.	G	A	1666.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2280474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2280474" target="_blank">rs2280474</a>;ExAC.Info.AC=17559;ExAC.Info.AN=126704;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=14689;ExAC.Info.AC_Hom=1424;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.407-14C>T;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=CELF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF3" target="_blank">CELF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000420342;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000290583;SAVANT_GENE=CELF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF3" target="_blank">CELF3</a>;SAVANT_INFO=-/14.4kb/13/3.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.407-14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF3+c.407-14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151681567">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1981:127	0|1:27,30:57:99:852,0,745:127	0|0:57,0:57:99:0,171,2011:127
1	151686983	.	T	A	2412.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs939592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=939592" target="_blank">rs939592</a>;ExAC.Info.AC=20498;ExAC.Info.AN=44770;ExAC.Info.AF=0.458;ExAC.Info.AC_Het=5491;ExAC.Info.AC_Hom=4585;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.231+87A>T;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=CELF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF3" target="_blank">CELF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000420342;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3601;snpeff.Amino_Acid_Change=c.*812T>A;snpeff.Amino_Acid_length=137;snpeff.Gene_Name=AL589765.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF3" target="_blank">CELF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442233;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2;snpeff.Amino_Acid_Change=c.-2T>A;snpeff.Amino_Acid_length=102;snpeff.Gene_Name=RIIAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF3" target="_blank">CELF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326413;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290583:ENST00000442233;SAVANT_GENE=CELF3:AL589765.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF3:AL5897651" target="_blank">CELF3:AL5897651</a>;SAVANT_INFO=-/14.4kb/13/3.2kb:+/19.2kb/9/1.8kb;SAVANT_LOC=In2/3:3UTR;SAVANT_HGVS=c.228+87A>T:c.*3601T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF3:AL5897651+c.228+87A>T:c.*3601T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151686983">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1207:107	0|1:23,44:67:99:1225,0,591:107	0|0:51,0:51:99:0,153,1784:107
1	151732700	.	A	G	3562.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10888433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888433" target="_blank">rs10888433</a>;ExAC.Info.AC=62072;ExAC.Info.AN=126704;ExAC.Info.AF=0.490;ExAC.Info.AC_Het=30594;ExAC.Info.AC_Hom=15679;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.673-43T>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MRPL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL9" target="_blank">MRPL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368830;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368830;SAVANT_GENE=MRPL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL9" target="_blank">MRPL9</a>;SAVANT_INFO=-/3.9kb/7/1.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.673-43T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL9+c.673-43T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151732700">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,289,3380:127	0|1:49,59:108:99:1800,0,1417:127	0|0:81,0:81:99:0,243,2836:127
1	151733335	.	T	G	4302.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs8480;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8480" target="_blank">rs8480</a>;ExAC.Info.AC=62025;ExAC.Info.AN=126688;ExAC.Info.AF=0.490;ExAC.Info.AC_Het=30493;ExAC.Info.AC_Hom=15641;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gCa;snpeff.Amino_Acid_Change=p.Glu210Ala/c.629A>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MRPL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL9" target="_blank">MRPL9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368830;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368830;SAVANT_GENE=MRPL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL9" target="_blank">MRPL9</a>;SAVANT_INFO=-/3.9kb/7/1.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.629A>C_p.Glu210Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL9+c.629A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151733335">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,0:103:99:0,310,3370:127	0|1:53,66:119:99:2170,0,1525:127	0|0:101,0:101:99:0,304,3520:127
1	151735576	.	T	C	2327.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7007;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7007" target="_blank">rs7007</a>;ExAC.Info.AC=17568;ExAC.Info.AN=126654;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=14868;ExAC.Info.AC_Hom=1320;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OAZ3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAZ3" target="_blank">OAZ3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu67Gly/c.200A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MRPL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAZ3" target="_blank">OAZ3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368830;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368830;SAVANT_GENE=MRPL9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL9" target="_blank">MRPL9</a>;SAVANT_INFO=-/3.9kb/7/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.200A>G_p.Glu67Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL9+c.200A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151735576">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2247:127	0|1:41,41:82:99:1187,0,1073:127	0|0:58,0:58:99:0,174,1985:127
1	151740666	.	T	C	19575.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2495397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2495397" target="_blank">rs2495397</a>;ExAC.Info.AC=124853;ExAC.Info.AN=124880;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=26;ExAC.Info.AC_Hom=62166;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.212A>G;snpeff.Gene_Name=RP11-98D18.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-98D183" target="_blank">RP11-98D183</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000512280;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu114Leu/c.340T>C;snpeff.Amino_Acid_length=203;snpeff.Gene_Name=OAZ3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-98D183" target="_blank">RP11-98D183</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453029;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321531;SAVANT_GENE=OAZ3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAZ3" target="_blank">OAZ3</a>;SAVANT_INFO=+/4.7kb/6/0.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.433T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OAZ3+c.433T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151740666">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1848,165,0:127	1|1:0,82:82:99:2870,246,0:127	1|1:0,90:90:99:2979,270,0:127
1	151747043	.	C	T	30504.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=480;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1123855;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1123855" target="_blank">rs1123855</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1634-63G>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TDRKH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRKH" target="_blank">TDRKH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368827;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368822;SAVANT_GENE=TDRKH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRKH" target="_blank">TDRKH</a>;SAVANT_INFO=-/17.9kb/14/3.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1634-63G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRKH+c.1634-63G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151747043">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4334,396,0:127	1|0:98,91:189:99:2445,0,2675:127	1|1:0,159:159:99:5519,478,0:127
1	151754112	.	T	C	19740.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs35077383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35077383" target="_blank">rs35077383</a>;ExAC.Info.AC=53101;ExAC.Info.AN=125212;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=28750;ExAC.Info.AC_Hom=11927;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125-49A>G;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TDRKH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRKH" target="_blank">TDRKH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368827;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368822;SAVANT_GENE=TDRKH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRKH" target="_blank">TDRKH</a>;SAVANT_INFO=-/17.9kb/14/3.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.125-49A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRKH+c.125-49A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151754112">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3291,279,0:127	1|0:64,49:113:99:1510,0,1825:127	1|1:0,101:101:99:3508,303,0:127
1	151780177	.	C	T	3764.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3828057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3828057" target="_blank">rs3828057</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1558-68G>A;snpeff.Amino_Acid_length=572;snpeff.Gene_Name=RORC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RORC" target="_blank">RORC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392697;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318247;SAVANT_GENE=RORC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RORC" target="_blank">RORC</a>;SAVANT_INFO=-/24.9kb/11/2.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1396-68G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RORC+c.1396-68G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151780177">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,14:31:99:349,0,513:127	0/1:20,25:45:99:719,0,652:127	0/1:20,20:40:99:604,0,571:127
1	151801951	.	G	A	5020.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4845606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845606" target="_blank">rs4845606</a>;ExAC.Info.AC=18071;ExAC.Info.AN=126678;ExAC.Info.AF=0.143;ExAC.Info.AC_Het=15005;ExAC.Info.AC_Hom=1500;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.203-17C>T;snpeff.Amino_Acid_length=572;snpeff.Gene_Name=RORC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RORC" target="_blank">RORC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392697;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318247;SAVANT_GENE=RORC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RORC" target="_blank">RORC</a>;SAVANT_INFO=-/24.9kb/11/2.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.41-17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RORC+c.41-17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151801951">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,25:45:99:687,0,608:72	1|1:0,49:49:99:1727,147,0:72	0|0:24,0:24:72:0,72,871:72
1	151811226	.	G	A	3766.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=34;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6673556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6673556" target="_blank">rs6673556</a>;ExAC.Info.AC=7471;ExAC.Info.AN=7622;ExAC.Info.AF=0.980;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=183;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys80Cys/c.240C>T;snpeff.Amino_Acid_length=353;snpeff.Gene_Name=C2CD4D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C2CD4D" target="_blank">C2CD4D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454109;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454109;SAVANT_GENE=C2CD4D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C2CD4D" target="_blank">C2CD4D</a>;SAVANT_INFO=-/2.7kb/2/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.240C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C2CD4D+c.240C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151811226">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,10:10:30:384,30,0:32	1|1:0,12:12:36:445,36,0:32	1|1:0,12:12:36:465,36,0:32
1	151820298	.	G	C	15714.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6587624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587624" target="_blank">rs6587624</a>;ExAC.Info.AC=126551;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=153;ExAC.Info.AC_Hom=63196;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.354-2411G>C;snpeff.Gene_Name=AL450992.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4509922" target="_blank">AL4509922</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434182;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.616G>C;snpeff.Amino_Acid_length=247;snpeff.Gene_Name=THEM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4509922" target="_blank">AL4509922</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368817;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Gtg;snpeff.Amino_Acid_Change=p.Leu206Val/c.616C>G;snpeff.Amino_Acid_length=247;snpeff.Gene_Name=THEM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4509922" target="_blank">AL4509922</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368817;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368817;SAVANT_GENE=THEM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEM5" target="_blank">THEM5</a>;SAVANT_INFO=-/8.0kb/6/2.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.616C>G_p.Leu206Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THEM5+c.616C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151820298">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1563,132,0:127	1|1:1,78:79:99:2504,226,0:127	1|1:0,58:58:99:2022,174,0:127
1	151820324	.	T	C	15494.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6587625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587625" target="_blank">rs6587625</a>;ExAC.Info.AC=99784;ExAC.Info.AN=126704;ExAC.Info.AF=0.788;ExAC.Info.AC_Het=19879;ExAC.Info.AC_Hom=39942;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.354-2385T>C;snpeff.Gene_Name=AL450992.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4509922" target="_blank">AL4509922</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434182;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp197Gly/c.590A>G;snpeff.Amino_Acid_length=247;snpeff.Gene_Name=THEM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4509922" target="_blank">AL4509922</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368817;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368817;SAVANT_GENE=THEM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEM5" target="_blank">THEM5</a>;SAVANT_INFO=-/8.0kb/6/2.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.590A>G_p.Asp197Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THEM5+c.590A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151820324">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1291,120,0:127	1|1:0,72:72:99:2429,216,0:127	1|1:0,65:65:99:2151,195,0:127
1	151825991	.	G	T	11907.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7556386;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7556386" target="_blank">rs7556386</a>;ExAC.Info.AC=81979;ExAC.Info.AN=126704;ExAC.Info.AF=0.647;ExAC.Info.AC_Het=27241;ExAC.Info.AC_Hom=27356;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly17Gly/c.51C>A;snpeff.Amino_Acid_length=247;snpeff.Gene_Name=THEM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEM5" target="_blank">THEM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368817;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368817;SAVANT_GENE=THEM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEM5" target="_blank">THEM5</a>;SAVANT_INFO=-/8.0kb/6/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.51C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THEM5+c.51C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151825991">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1391,129,0:81	1|1:0,60:60:99:2032,180,0:81	1|1:0,27:27:81:975,81,0:81
1	151862661	.	G	A	9283.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1060870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1060870" target="_blank">rs1060870</a>;ExAC.Info.AC=12624;ExAC.Info.AN=25352;ExAC.Info.AF=0.498;ExAC.Info.AC_Het=5534;ExAC.Info.AC_Hom=3225;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.287-812C>T;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=THEM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEM4" target="_blank">THEM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368814;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368814;SAVANT_GENE=THEM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEM4" target="_blank">THEM4</a>;SAVANT_INFO=-/36.2kb/6/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.287-812C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THEM4+c.287-812C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151862661">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,30:63:99:854,0,890:127	0|1:29,34:63:99:913,0,751:127	1|1:0,54:54:99:2024,162,0:127
1	151881885	.	A	C	8956.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748805" target="_blank">rs3748805</a>;ExAC.Info.AC=41465;ExAC.Info.AN=49988;ExAC.Info.AF=0.829;ExAC.Info.AC_Het=971;ExAC.Info.AC_Hom=5186;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50A>C;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=THEM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEM4" target="_blank">THEM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368814;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50A>C;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=THEM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEM4" target="_blank">THEM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368814;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cGg;snpeff.Amino_Acid_Change=p.Leu17Arg/c.50T>G;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=THEM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEM4" target="_blank">THEM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368814;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368814;SAVANT_GENE=THEM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THEM4" target="_blank">THEM4</a>;SAVANT_INFO=-/36.2kb/6/2.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.50T>G_p.Leu17Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THEM4+c.50T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:151881885">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:841,72,0:98	1|1:0,40:40:99:1377,120,0:98	1|1:0,33:33:99:1138,99,0:98
1	152005327	.	TA	T	11432.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=292;MQ=70.06;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs35135981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35135981" target="_blank">rs35135981</a>;ExAC.Info.AC=26479;ExAC.Info.AN=126668;ExAC.Info.AF=0.209;ExAC.Info.AC_Het=19836;ExAC.Info.AC_Hom=3227;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.157-29delT;snpeff.Amino_Acid_length=105;snpeff.Gene_Name=S100A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A11" target="_blank">S100A11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271638;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2920-8733delA;snpeff.Gene_Name=NBPF18P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A11" target="_blank">S100A11</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000432386;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.157delA;snpeff.Amino_Acid_length=105;snpeff.Gene_Name=S100A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A11" target="_blank">S100A11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271638;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.157delA;snpeff.Amino_Acid_length=105;snpeff.Gene_Name=S100A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A11" target="_blank">S100A11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271638;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271638;SAVANT_GENE=S100A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A11" target="_blank">S100A11</a>;SAVANT_INFO=-/4.5kb/3/0.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.157-29delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=S100A11+c.157-29delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152005327">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,37:80:99:1195,0,1461:127	0|0:118,1:119:99:0,319,4685:127	1|1:0,93:93:99:3585,280,0:127
1	152079823	.	C	G	12901.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1131473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131473" target="_blank">rs1131473</a>;ExAC.Info.AC=53346;ExAC.Info.AN=122838;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=26318;ExAC.Info.AC_Hom=11515;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=38;snpeff.Amino_Acid_Change=c.*38G>C;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368804;SAVANT_GENE=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;SAVANT_INFO=-/7.8kb/2/6.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*38G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCHH+c.*38G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152079823">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,54:101:99:1560,0,1235:127	1|1:0,116:116:99:4175,349,0:127	0|0:109,0:109:99:0,327,3798:127
1	152079989	.	T	G	21442.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=475;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1131471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131471" target="_blank">rs1131471</a>;ExAC.Info.AC=63393;ExAC.Info.AN=125418;ExAC.Info.AF=0.505;ExAC.Info.AC_Het=29322;ExAC.Info.AC_Hom=16987;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Caa;snpeff.Amino_Acid_Change=p.Lys1902Gln/c.5704A>C;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368804;SAVANT_GENE=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;SAVANT_INFO=-/7.8kb/2/6.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.5704A>C_p.Lys1902Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCHH+c.5704A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152079989">View</a>	GT:AD:DP:GQ:PL:TP	0|1:82,75:157:99:2470,0,2469:127	1|1:0,177:177:99:6881,532,0:127	0|0:141,0:141:99:0,424,5268:127
1	152081921	.	G	C	17540.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2496253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2496253" target="_blank">rs2496253</a>;ExAC.Info.AC=63160;ExAC.Info.AN=125518;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=29307;ExAC.Info.AC_Hom=16837;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Gtg;snpeff.Amino_Acid_Change=p.Leu1258Val/c.3772C>G;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368804;SAVANT_GENE=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;SAVANT_INFO=-/7.8kb/2/6.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.3772C>G_p.Leu1258Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCHH+c.3772C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152081921">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,47:107:99:1447,0,1922:127	1|1:0,174:174:99:6285,523,0:127	0|0:136,0:136:99:0,409,5247:127
1	152083325	.	A	T	6740.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=181;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11803731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11803731" target="_blank">rs11803731</a>;ExAC.Info.AC=19652;ExAC.Info.AN=125692;ExAC.Info.AF=0.156;ExAC.Info.AC_Het=15367;ExAC.Info.AC_Hom=2032;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttg/Atg;snpeff.Amino_Acid_Change=p.Leu790Met/c.2368T>A;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368804;SAVANT_GENE=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;SAVANT_INFO=-/7.8kb/2/6.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.2368T>A_p.Leu790Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCHH+c.2368T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152083325">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,32:52:99:953,0,564:127	0|0:74,0:74:99:0,223,2811:127	1|1:0,55:55:99:2056,165,0:127
1	152084039	.	G	T	7407.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=247;MQ=69.91;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6680692;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6680692" target="_blank">rs6680692</a>;ExAC.Info.AC=1622;ExAC.Info.AN=125570;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1602;ExAC.Info.AC_Hom=17;snpeff.Effect=sequence_feature[region_of_interest:9_X_28_AA_approximate_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1654G>T;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Agc;snpeff.Amino_Acid_Change=p.Arg552Ser/c.1654C>A;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368804;SAVANT_GENE=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;SAVANT_INFO=-/7.8kb/2/6.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1654C>A_p.Arg552Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCHH+c.1654C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152084039">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,50:95:99:1393,0,1195:127	1|0:37,49:86:99:1554,0,1001:127	0|0:66,0:66:99:0,198,2351:127
1	152085505	.	A	C	20259.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2515663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2515663" target="_blank">rs2515663</a>;ExAC.Info.AC=124762;ExAC.Info.AN=125138;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=357;ExAC.Info.AC_Hom=62081;snpeff.Effect=sequence_feature[calcium-binding_region:2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.188A>C;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.188A>C;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:S-100-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.188A>C;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:S-100-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.188A>C;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368804;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTt/cGt;snpeff.Amino_Acid_Change=p.Leu63Arg/c.188T>G;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368804;SAVANT_GENE=TCHH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCHH" target="_blank">TCHH</a>;SAVANT_INFO=-/7.8kb/2/6.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.188T>G_p.Leu63Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCHH+c.188T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152085505">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2498,213,0:127	1|1:0,96:96:99:3141,288,0:127	1|1:0,74:74:99:2474,222,0:127
1	152128121	.	G	A	38414.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1112;MQ=69.80;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72696940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72696940" target="_blank">rs72696940</a>;ExAC.Info.AC=13031;ExAC.Info.AN=125224;ExAC.Info.AF=0.104;ExAC.Info.AC_Het=11230;ExAC.Info.AC_Hom=896;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1454G>A;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=RPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPTN" target="_blank">RPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316073;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tTc;snpeff.Amino_Acid_Change=p.Ser485Phe/c.1454C>T;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=RPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPTN" target="_blank">RPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316073;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316073;SAVANT_GENE=RPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPTN" target="_blank">RPTN</a>;SAVANT_INFO=-/5.6kb/3/3.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1454C>T_p.Ser485Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPTN+c.1454C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152128121">View</a>	GT:AD:DP:GQ:PL:TP	0|1:177,152:329:99:4050,0,5191:127	1|1:1,411:412:99:13963,1226,0:127	0|0:371,0:371:99:0,1115,13145:127
1	152191709	.	C	G	18765.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6662450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6662450" target="_blank">rs6662450</a>;cosmic68.Histology_subtype=squamous_cell_carcinoma;ExAC.Info.AC=89581;ExAC.Info.AN=126686;ExAC.Info.AF=0.707;ExAC.Info.AC_Het=22449;ExAC.Info.AC_Hom=33504;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2396C>G;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aCt;snpeff.Amino_Acid_Change=p.Ser799Thr/c.2396G>C;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2396G>C_p.Ser799Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.2396G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152191709">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,50:120:99:1488,0,2210:127	1|1:0,127:127:99:4931,382,0:127	0|1:51,57:108:99:1717,0,1650:127
1	152191879	.	G	A	15645.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10788828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10788828" target="_blank">rs10788828</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2226G>A;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His742His/c.2226C>T;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2226C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.2226C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152191879">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,37:84:99:1150,0,1301:127	1|1:0,123:123:99:4258,370,0:127	0|1:33,42:75:99:1309,0,952:127
1	152192114	.	C	T	10983.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=266;MQ=69.44;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7520249;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7520249" target="_blank">rs7520249</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=90653;ExAC.Info.AN=126704;ExAC.Info.AF=0.715;ExAC.Info.AC_Het=22508;ExAC.Info.AC_Hom=34068;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1991C>T;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg664Gln/c.1991G>A;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1991G>A_p.Arg664Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.1991G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152192114">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,30:88:99:734,0,1875:127	0/1:14,94:108:99:3097,0,294:127	0/1:39,31:70:99:933,0,1158:127
1	152192395	.	G	A	2194.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=190;MQ=69.86;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61814946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61814946" target="_blank">rs61814946</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=17226;ExAC.Info.AN=126704;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=14498;ExAC.Info.AC_Hom=1363;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser570Ser/c.1710C>T;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1710C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.1710C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152192395">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2256:127	0|1:35,39:74:99:1116,0,1089:127	0|0:56,0:56:99:0,168,2035:127
1	152192555	.	T	C	9722.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41266134;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41266134" target="_blank">rs41266134</a>;ExAC.Info.AC=28874;ExAC.Info.AN=126698;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=19016;ExAC.Info.AC_Hom=4928;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1550T>C;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAt/tGt;snpeff.Amino_Acid_Change=p.Tyr517Cys/c.1550A>G;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1550A>G_p.Tyr517Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.1550A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152192555">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,71:145:99:2178,0,1922:127	0|0:173,0:173:99:0,519,5812:127	1|0:58,48:106:99:1376,0,1604:127
1	152192631	.	C	T	29620.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=539;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6587647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587647" target="_blank">rs6587647</a>;ExAC.Info.AC=90634;ExAC.Info.AN=126704;ExAC.Info.AF=0.715;ExAC.Info.AC_Het=22532;ExAC.Info.AC_Hom=34050;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1474C>T;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly492Arg/c.1474G>A;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1474G>A_p.Gly492Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.1474G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152192631">View</a>	GT:AD:DP:GQ:PL:TP	0|1:84,89:173:99:2574,0,2440:127	1|1:0,226:226:99:7819,679,0:127	0|1:62,78:140:99:2448,0,1699:127
1	152192687	.	T	C	44522.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=535;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6587648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587648" target="_blank">rs6587648</a>;ExAC.Info.AC=124929;ExAC.Info.AN=126702;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1485;ExAC.Info.AC_Hom=61722;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu473Gly/c.1418A>G;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1418A>G_p.Glu473Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.1418A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152192687">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,178:178:99:6152,535,0:127	1|1:0,220:220:99:7621,661,0:127	1|1:0,137:137:99:4506,410,0:127
1	152192825	.	C	T	12830.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6666097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6666097" target="_blank">rs6666097</a>;ExAC.Info.AC=63067;ExAC.Info.AN=126700;ExAC.Info.AF=0.498;ExAC.Info.AC_Het=28990;ExAC.Info.AC_Hom=17003;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1280C>T;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gAc;snpeff.Amino_Acid_Change=p.Gly427Asp/c.1280G>A;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1280G>A_p.Gly427Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.1280G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152192825">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,35:73:99:965,0,1267:127	1|1:0,109:109:99:3797,327,0:127	0|1:35,29:64:99:823,0,1141:127
1	152192978	.	T	C	39075.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6587649;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587649" target="_blank">rs6587649</a>;ExAC.Info.AC=124932;ExAC.Info.AN=126700;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1480;ExAC.Info.AC_Hom=61708;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1127T>C;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln376Arg/c.1127A>G;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1127A>G_p.Gln376Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.1127A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152192978">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4448,376,0:127	1|1:0,166:166:99:6013,499,0:127	1|1:0,154:154:99:5264,463,0:127
1	152193052	.	A	G	35441.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6587650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587650" target="_blank">rs6587650</a>;ExAC.Info.AC=123770;ExAC.Info.AN=126698;ExAC.Info.AF=0.977;ExAC.Info.AC_Het=2198;ExAC.Info.AC_Hom=60764;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1053A>G;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His351His/c.1053T>C;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1053T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.1053T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152193052">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,151:151:99:5149,453,0:127	1|1:0,131:131:99:4673,394,0:127	1|1:0,138:138:99:4916,415,0:127
1	152193121	.	G	T	12674.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs6587651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587651" target="_blank">rs6587651</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=90389;ExAC.Info.AN=126698;ExAC.Info.AF=0.713;ExAC.Info.AC_Het=22463;ExAC.Info.AC_Hom=33945;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.984G>T;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly328Gly/c.984C>A;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.984C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.984C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152193121">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,46:81:99:1334,0,1136:127	1|1:0,90:90:99:3168,271,0:127	0|1:39,36:75:99:1064,0,1250:127
1	152193544	.	A	G	23684.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=437;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7535536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7535536" target="_blank">rs7535536</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=89619;ExAC.Info.AN=126700;ExAC.Info.AF=0.707;ExAC.Info.AC_Het=22468;ExAC.Info.AC_Hom=33557;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561A>G;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His187His/c.561T>C;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.561T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.561T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152193544">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,73:129:99:2379,0,1522:127	1|1:0,161:161:99:6251,484,0:127	0|1:78,69:147:99:2158,0,2256:127
1	152193547	.	G	A	44489.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=437;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6587653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587653" target="_blank">rs6587653</a>;ExAC.Info.AC=124931;ExAC.Info.AN=126700;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1480;ExAC.Info.AC_Hom=61706;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558G>A;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser186Ser/c.558C>T;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.558C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.558C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152193547">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,130:130:99:5428,397,0:127	1|1:0,162:162:99:7464,503,0:127	1|1:0,145:145:99:5923,439,0:127
1	152193851	.	C	T	23765.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=487;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11204937;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11204937" target="_blank">rs11204937</a>;ExAC.Info.AC=89565;ExAC.Info.AN=126678;ExAC.Info.AF=0.707;ExAC.Info.AC_Het=22426;ExAC.Info.AC_Hom=33431;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg85His/c.254G>A;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.254G>A_p.Arg85His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.254G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152193851">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,80:154:99:2394,0,2048:127	1|1:0,183:183:99:6271,550,0:127	0|1:74,76:150:99:2323,0,2147:127
1	152195579	.	G	A	8058.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs74127901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74127901" target="_blank">rs74127901</a>;ExAC.Info.AC=32212;ExAC.Info.AN=126704;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=20745;ExAC.Info.AC_Hom=5725;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.138+13C>T;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.139G>A;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.139G>A;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:S-100-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.139G>A;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:S-100-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.139G>A;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.138+13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.138+13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152195579">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,52:107:99:1553,0,1542:127	0|0:137,0:137:99:0,411,4582:127	1|0:61,63:124:99:1763,0,1713:127
1	152195728	.	AT	A	16535.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=251;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs34061715;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34061715" target="_blank">rs34061715</a>;cosmic68.Histology_subtype=serous_carcinoma;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:S-100-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1delT;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:S-100-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1delT;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant+start_lost;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=atg/;snpeff.Amino_Acid_Change=p.Met1fs/c.1delA;snpeff.Amino_Acid_length=2850;snpeff.Gene_Name=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368801;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368801;SAVANT_GENE=HRNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRNR" target="_blank">HRNR</a>;SAVANT_INFO=-/12.1kb/3/9.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1delA;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRNR+c.1delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152195728">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:1767,202,0:127	1|1:0,105:105:99:2808,313,0:127	1|1:0,78:78:99:2046,232,0:127
1	152276149	.	C	T	21087.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=979;MQ=69.78;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77422831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77422831" target="_blank">rs77422831</a>;ExAC.Info.AC=28897;ExAC.Info.AN=126704;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=19079;ExAC.Info.AC_Hom=4910;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11213C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg3738His/c.11213G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.11213G>A_p.Arg3738His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.11213G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276149">View</a>	GT:AD:DP:GQ:PL:TP	1|0:156,157:313:99:4563,0,4651:127	0|0:350,1:351:99:0,1016,12638:127	1|0:145,170:315:99:5111,0,4495:127
1	152276377	.	C	G	7627.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=815;MQ=36.13;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs139284720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139284720" target="_blank">rs139284720</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=5272;ExAC.Info.AN=126168;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=4174;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_22];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10985C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10985C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aCt;snpeff.Amino_Acid_Change=p.Ser3662Thr/c.10985G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10985G>C_p.Ser3662Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10985G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276377">View</a>	GT:AD:DP:GQ:PL:TP	1|0:202,66:268:99:1471,0,6271:127	0|0:269,0:269:99:0,809,9534:127	1|0:199,79:278:99:1882,0,6268:127
1	152276459	.	C	T	12751.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1340;MQ=43.49;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75448155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75448155" target="_blank">rs75448155</a>;ExAC.Info.AC=23839;ExAC.Info.AN=126600;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=23550;ExAC.Info.AC_Hom=2;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_22];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10903C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10903C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp3635Asn/c.10903G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10903G>A_p.Asp3635Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10903G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276459">View</a>	GT:AD:DP:GQ:PL:TP	1|0:292,142:434:99:3250,0,8775:127	0|0:451,0:451:99:0,1355,15803:127	1|0:322,133:455:99:2959,0,9925:127
1	152276583	.	C	G	808.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=789;MQ=62.10;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12083389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12083389" target="_blank">rs12083389</a>;ExAC.Info.AC=12528;ExAC.Info.AN=126604;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=6600;ExAC.Info.AC_Hom=2039;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10779C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu3593Asp/c.10779G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10779G>C_p.Glu3593Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10779G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276583">View</a>	GT:AD:DP:GQ:PL:TP	1|0:183,20:203:99:198,0,7192:127	0|0:373,0:373:99:0,1144,16360:127	1|0:193,20:213:99:204,0,7711:127
1	152276598	.	G	A	192.15	VQSRTrancheSNP99.90to100.00	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=737;MQ=65.69;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs12742178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12742178" target="_blank">rs12742178</a>;ExAC.Info.AC=7090;ExAC.Info.AN=126208;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=3056;ExAC.Info.AC_Hom=496;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10764G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His3588His/c.10764C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10764C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10764C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276598">View</a>	GT:AD:DP:GQ:PL:TP	0/1:160,19:179:99:225,0,6733:51	0/0:356,0:356:99:0,1105,16221:51	0/0:190,12:202:99:0,131,7886:51
1	152276626	.	G	C	569.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=756;MQ=67.94;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3126075;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3126075" target="_blank">rs3126075</a>;ExAC.Info.AC=9383;ExAC.Info.AN=122528;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=2515;ExAC.Info.AC_Hom=1772;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10736G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aGg;snpeff.Amino_Acid_Change=p.Thr3579Arg/c.10736C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10736C>G_p.Thr3579Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10736C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276626">View</a>	GT:AD:DP:GQ:PL:TP	0/1:156,23:179:99:261,0,5117:43	0/0:356,0:356:99:0,1073,13424:43	0/0:206,15:221:99:0,123,7024:43
1	152276659	.	T	C	220.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=799;MQ=66.57;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7532285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7532285" target="_blank">rs7532285</a>;ExAC.Info.AC=23520;ExAC.Info.AN=126702;ExAC.Info.AF=0.186;ExAC.Info.AC_Het=23161;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10703T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln3568Arg/c.10703A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10703A>G_p.Gln3568Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10703A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276659">View</a>	GT:AD:DP:GQ:PL:TP	0|0:195,12:207:53:0,53,8341:53	0|0:338,0:338:99:0,1038,15443:53	0|1:236,18:254:99:108,0,10043:53
1	152276660	.	G	C	250.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=796;MQ=66.53;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7540123;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7540123" target="_blank">rs7540123</a>;ExAC.Info.AC=23500;ExAC.Info.AN=126702;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=23117;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10702G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln3568Glu/c.10702C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10702C>G_p.Gln3568Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10702C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276660">View</a>	GT:AD:DP:GQ:PL:TP	0|0:194,13:207:59:0,59,8425:59	0|0:334,0:334:99:0,1044,15515:59	0|1:236,19:255:99:141,0,10061:59
1	152276671	.	C	T	789.6	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=841;MQ=66.50;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7518080;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7518080" target="_blank">rs7518080</a>;ExAC.Info.AC=24282;ExAC.Info.AN=126688;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=27501;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10691C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg3564His/c.10691G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10691G>A_p.Arg3564His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10691G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276671">View</a>	GT:AD:DP:GQ:PL:TP	1|0:197,21:218:99:220,0,8075:127	0|0:351,0:351:99:0,1080,15800:127	1|0:246,26:272:99:298,0,10071:127
1	152276699	.	A	G	3099.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=909;MQ=66.38;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12728605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12728605" target="_blank">rs12728605</a>;ExAC.Info.AC=23907;ExAC.Info.AN=126704;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=23253;ExAC.Info.AC_Hom=11;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10663A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp3555Arg/c.10663T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10663T>C_p.Trp3555Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10663T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276699">View</a>	GT:AD:DP:GQ:PL:TP	1|0:207,53:260:99:958,0,6696:127	0|0:350,2:352:99:0,1040,12695:127	1|0:262,35:297:99:272,0,8496:127
1	152276772	.	C	A	15790.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=989;MQ=69.24;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72697000;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72697000" target="_blank">rs72697000</a>;ExAC.Info.AC=29586;ExAC.Info.AN=126638;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=18368;ExAC.Info.AC_Hom=5599;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_21];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10590C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10590C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agG/agT;snpeff.Amino_Acid_Change=p.Arg3530Ser/c.10590G>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10590G>T_p.Arg3530Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10590G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276772">View</a>	GT:AD:DP:GQ:PL:TP	1|0:179,128:307:99:3152,0,5778:127	0|0:363,2:365:99:0,1022,14048:127	1|0:180,137:317:99:3744,0,5895:127
1	152276871	.	A	G	25504.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=984;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs3126066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3126066" target="_blank">rs3126066</a>;ExAC.Info.AC=35020;ExAC.Info.AN=126620;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=20731;ExAC.Info.AC_Hom=7143;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_21];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10491A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10491A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp3497Asp/c.10491T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10491T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10491T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276871">View</a>	GT:AD:DP:GQ:PL:TP	1|0:156,154:310:99:5898,0,6929:127	0|0:352,0:352:99:0,1065,17372:127	1|0:184,138:322:99:5229,0,7865:127
1	152276889	.	A	G	26661.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1018;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs3126067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3126067" target="_blank">rs3126067</a>;ExAC.Info.AC=37857;ExAC.Info.AN=126622;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=20343;ExAC.Info.AC_Hom=8754;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10473A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn3491Asn/c.10473T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10473T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10473T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152276889">View</a>	GT:AD:DP:GQ:PL:TP	1|0:163,166:329:99:6225,0,7120:127	0|0:361,0:361:99:0,1090,17796:127	1|0:186,142:328:99:5350,0,7913:127
1	152277055	.	C	G	17139.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=840;MQ=67.23;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2065955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2065955" target="_blank">rs2065955</a>;ExAC.Info.AC=37660;ExAC.Info.AN=126700;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=20500;ExAC.Info.AC_Hom=8540;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10307C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gCa;snpeff.Amino_Acid_Change=p.Gly3436Ala/c.10307G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10307G>C_p.Gly3436Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10307G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152277055">View</a>	GT:AD:DP:GQ:PL:TP	1|0:140,164:304:99:5288,0,4298:127	0|0:336,0:336:99:0,1007,12667:127	1|0:116,84:200:99:2561,0,3944:127
1	152277168	.	A	G	16006.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=778;MQ=62.26;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs3091276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3091276" target="_blank">rs3091276</a>;ExAC.Info.AC=35842;ExAC.Info.AN=126632;ExAC.Info.AF=0.283;ExAC.Info.AC_Het=21012;ExAC.Info.AC_Hom=7377;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10194A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser3398Ser/c.10194T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10194T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10194T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152277168">View</a>	GT:AD:DP:GQ:PL:TP	1|0:111,124:235:99:3708,0,3524:127	0|0:321,1:322:99:0,928,11773:127	1|0:119,102:221:99:2989,0,3701:127
1	152277345	.	C	T	19054.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=933;MQ=69.88;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs2065956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2065956" target="_blank">rs2065956</a>;ExAC.Info.AC=28957;ExAC.Info.AN=126698;ExAC.Info.AF=0.229;ExAC.Info.AC_Het=18987;ExAC.Info.AC_Hom=4985;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10017C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10017C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln3339Gln/c.10017G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.10017G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.10017G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152277345">View</a>	GT:AD:DP:GQ:PL:TP	1|0:162,120:282:99:3640,0,5429:127	0|0:361,1:362:99:0,1048,14010:127	1|0:159,130:289:99:4078,0,5334:127
1	152277396	.	T	C	21138.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1024;MQ=69.98;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs6681433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6681433" target="_blank">rs6681433</a>;ExAC.Info.AC=32953;ExAC.Info.AN=126698;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=21081;ExAC.Info.AC_Hom=5934;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9966T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9966T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln3322Gln/c.9966A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.9966A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.9966A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152277396">View</a>	GT:AD:DP:GQ:PL:TP	1|0:191,141:332:99:4344,0,6140:127	0|0:396,1:397:99:0,1152,15088:127	1|0:159,136:295:99:4484,0,4977:127
1	152277717	.	C	A	12523.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=973;MQ=64.45;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs9436066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9436066" target="_blank">rs9436066</a>;ExAC.Info.AC=37747;ExAC.Info.AN=126688;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=22565;ExAC.Info.AC_Hom=7568;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_19];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9645C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9645C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtT;snpeff.Amino_Acid_Change=p.Val3215Val/c.9645G>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.9645G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.9645G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152277717">View</a>	GT:AD:DP:GQ:PL:TP	1|0:180,100:280:99:2692,0,6142:127	0|0:396,0:396:99:0,1191,15534:127	1|0:202,95:297:99:2519,0,6931:127
1	152278434	.	T	G	1010.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=92;MQ=59.92;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61816760;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61816760" target="_blank">rs61816760</a>;ExAC.Info.AC=34211;ExAC.Info.AN=118856;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=29670;ExAC.Info.AC_Hom=133;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_18];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8928T>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8928T>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaA/gaC;snpeff.Amino_Acid_Change=p.Glu2976Asp/c.8928A>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.8928A>C_p.Glu2976Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.8928A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152278434">View</a>	GT:AD:DP:GQ:PL:TP	0|0:23,0:23:69:0,69,851:68	0|1:19,16:35:99:536,0,605:68	0|0:34,0:34:99:0,102,1291:68
1	152278555	.	T	C	8488.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=521;MQ=63.48;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs80221306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80221306" target="_blank">rs80221306</a>;cosmic68.Histology_subtype=serous_carcinoma;ExAC.Info.AC=25821;ExAC.Info.AN=124442;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=25643;ExAC.Info.AC_Hom=5;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8807T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp2936Gly/c.8807A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.8807A>G_p.Asp2936Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.8807A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152278555">View</a>	GT:AD:DP:GQ:PL:TP	1|0:101,49:150:99:1564,0,3182:127	0|0:192,0:192:99:0,578,7121:127	1|0:106,73:179:99:2433,0,3409:127
1	152278689	.	C	A	34232.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1033;MQ=63.05;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs57672167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57672167" target="_blank">rs57672167</a>;ExAC.Info.AC=33699;ExAC.Info.AN=125858;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=20648;ExAC.Info.AC_Hom=6419;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8673C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8673C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtT;snpeff.Amino_Acid_Change=p.Val2891Val/c.8673G>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.8673G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.8673G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152278689">View</a>	GT:AD:DP:GQ:PL:TP	1|0:108,253:361:99:7920,0,3156:127	0|0:340,0:340:99:0,1023,13571:127	1|0:86,246:332:99:8106,0,2526:127
1	152278788	.	G	A	50.15	VQSRTrancheSNP99.90to100.00	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=1222;MQ=65.35;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);ExAC.Info.AC=26;ExAC.Info.AN=126364;ExAC.Info.AF=2.058e-04;ExAC.Info.AC_Het=26;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8574G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8574G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His2858His/c.8574C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.8574C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.8574C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152278788">View</a>	GT:AD:DP:GQ:PL:TP	0/1:385,29:414:83:83,0,16328:4	0/0:400,0:400:99:0,1237,18489:4	0/0:383,25:408:99:0,139,16650:4
1	152278814	.	C	T	5649.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1257;MQ=63.97;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2184952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2184952" target="_blank">rs2184952</a>;ExAC.Info.AC=10879;ExAC.Info.AN=126184;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=10676;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8548C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8548C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly2850Ser/c.8548G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.8548G>A_p.Gly2850Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.8548G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152278814">View</a>	GT:AD:DP:GQ:PL:TP	1|0:357,69:426:99:1138,0,12041:127	0|0:423,0:423:99:0,1271,15721:127	1|0:339,69:408:99:1242,0,11419:127
1	152278856	.	T	G	8921.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1175;MQ=58.67;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11582087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11582087" target="_blank">rs11582087</a>;ExAC.Info.AC=23774;ExAC.Info.AN=126556;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=23765;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8506T>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Cgt;snpeff.Amino_Acid_Change=p.Ser2836Arg/c.8506A>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.8506A>C_p.Ser2836Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.8506A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152278856">View</a>	GT:AD:DP:GQ:PL:TP	1|0:306,104:410:99:2603,0,9691:127	0|0:402,0:402:99:0,1209,15050:127	1|0:281,82:363:99:1951,0,8972:127
1	152279019	.	G	A	10978.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1287;MQ=41.86;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs57670307;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57670307" target="_blank">rs57670307</a>;cosmic68.Histology_subtype=serous_carcinoma;ExAC.Info.AC=22979;ExAC.Info.AN=126682;ExAC.Info.AF=0.181;ExAC.Info.AC_Het=22920;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8343G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp2781Asp/c.8343C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.8343C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.8343C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152279019">View</a>	GT:AD:DP:GQ:PL:TP	1|0:332,115:447:99:2641,0,9995:127	0|0:429,0:429:99:0,1289,14758:127	1|0:292,119:411:99:2700,0,8993:127
1	152279406	.	T	G	2183.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=75;MQ=56.94;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs192116923;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=192116923" target="_blank">rs192116923</a>;ExAC.Info.AC=24862;ExAC.Info.AN=118442;ExAC.Info.AF=0.210;ExAC.Info.AC_Het=13796;ExAC.Info.AC_Hom=2213;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7956T>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7956T>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaA/gaC;snpeff.Amino_Acid_Change=p.Glu2652Asp/c.7956A>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.7956A>C_p.Glu2652Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.7956A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152279406">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,8:23:99:246,0,489:127	0/1:13,12:25:99:376,0,420:127	0/1:11,16:27:99:565,0,327:127
1	152279729	.	C	T	22485.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1051;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3126072;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3126072" target="_blank">rs3126072</a>;ExAC.Info.AC=37476;ExAC.Info.AN=126668;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=22428;ExAC.Info.AC_Hom=7518;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7633C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7633C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly2545Arg/c.7633G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.7633G>A_p.Gly2545Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.7633G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152279729">View</a>	GT:AD:DP:GQ:PL:TP	1|0:175,155:330:99:4672,0,5751:127	0|0:380,0:380:99:0,1144,14905:127	1|0:162,179:341:99:5560,0,5596:127
1	152279841	.	G	C	28322.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1231;MQ=69.23;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3126074;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3126074" target="_blank">rs3126074</a>;ExAC.Info.AC=37092;ExAC.Info.AN=126694;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=22646;ExAC.Info.AC_Hom=7223;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7521G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caC/caG;snpeff.Amino_Acid_Change=p.His2507Gln/c.7521C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.7521C>G_p.His2507Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.7521C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152279841">View</a>	GT:AD:DP:GQ:PL:TP	1|0:200,185:385:99:6061,0,6372:127	0|0:449,1:450:99:0,1307,17315:127	1|0:181,215:396:99:6941,0,5529:127
1	152279920	.	A	G	24108.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1118;MQ=69.54;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55650366;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55650366" target="_blank">rs55650366</a>;ExAC.Info.AC=32917;ExAC.Info.AN=126702;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=21171;ExAC.Info.AC_Hom=5873;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7442A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTg/tCg;snpeff.Amino_Acid_Change=p.Leu2481Ser/c.7442T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.7442T>C_p.Leu2481Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.7442T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152279920">View</a>	GT:AD:DP:GQ:PL:TP	1|0:172,195:367:99:6000,0,5139:127	0|0:422,0:422:99:0,1268,15461:127	1|0:162,167:329:99:4979,0,4863:127
1	152280023	.	G	A	11689.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=941;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=D;dbSNP139.ID=rs138726443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138726443" target="_blank">rs138726443</a>;hgmd_2014.2.CLASS=DM;hgmd_2014.2.PHEN=Ichthyosis_vulgaris;hgmd_2014.2.OMIM_ID=135940;hgmd_2014.2.PubMed=17417636;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17417636" target="_blank">17417636</a>;ExAC.Info.AC=391;ExAC.Info.AN=126704;ExAC.Info.AF=3.086e-03;ExAC.Info.AC_Het=392;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7339G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cga/Tga;snpeff.Amino_Acid_Change=p.Arg2447*/c.7339C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.7339C>T_p.Arg2447X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.7339C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280023">View</a>	GT:AD:DP:GQ:PL:TP	0|0:308,0:308:99:0,939,12700:127	0|1:165,187:352:99:5809,0,5135:127	0|0:281,0:281:99:0,858,11786:127
1	152280032	.	T	C	22570.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=929;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs71625200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71625200" target="_blank">rs71625200</a>;ExAC.Info.AC=32917;ExAC.Info.AN=126704;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=21179;ExAC.Info.AC_Hom=5867;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7330T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys2444Glu/c.7330A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.7330A>G_p.Lys2444Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.7330A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280032">View</a>	GT:AD:DP:GQ:PL:TP	1|0:148,157:305:99:4768,0,4455:127	0|0:349,0:349:99:0,1056,14384:127	1|0:111,164:275:99:5176,0,3272:127
1	152280170	.	C	G	14918.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=639;MQ=59.04;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs71625201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71625201" target="_blank">rs71625201</a>;ExAC.Info.AC=32563;ExAC.Info.AN=126668;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=21201;ExAC.Info.AC_Hom=5624;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7192C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Cag;snpeff.Amino_Acid_Change=p.Glu2398Gln/c.7192G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.7192G>C_p.Glu2398Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.7192G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280170">View</a>	GT:AD:DP:GQ:PL:TP	1|0:106,100:206:99:3139,0,3469:127	0|0:233,0:233:99:0,700,8805:127	1|0:98,102:200:99:3303,0,2850:127
1	152280265	.	C	G	2983.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=589;MQ=40.45;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs71625202;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71625202" target="_blank">rs71625202</a>;ExAC.Info.AC=25915;ExAC.Info.AN=126490;ExAC.Info.AF=0.205;ExAC.Info.AC_Het=24913;ExAC.Info.AC_Hom=205;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7097C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7097C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aCt;snpeff.Amino_Acid_Change=p.Ser2366Thr/c.7097G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.7097G>C_p.Ser2366Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.7097G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280265">View</a>	GT:AD:DP:GQ:PL:TP	1|0:119,31:150:99:753,0,3822:127	0|0:300,0:300:99:0,903,10747:127	1|0:107,32:139:99:813,0,3424:127
1	152280347	.	C	T	766.54	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1036;MQ=47.37;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs139476473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139476473" target="_blank">rs139476473</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=17910;ExAC.Info.AN=126650;ExAC.Info.AF=0.141;ExAC.Info.AC_Het=17399;ExAC.Info.AC_Hom=30;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7015C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7015C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp2339Asn/c.7015G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.7015G>A_p.Asp2339Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.7015G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280347">View</a>	GT:AD:DP:GQ:PL:TP	1|0:260,34:294:99:300,0,10365:127	0|0:460,0:460:99:0,1411,19801:127	1|0:253,29:282:99:189,0,10089:127
1	152280372	.	G	A	6968.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1156;MQ=51.07;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs142776569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142776569" target="_blank">rs142776569</a>;ExAC.Info.AC=35050;ExAC.Info.AN=126646;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=21275;ExAC.Info.AC_Hom=6682;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6990G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6990G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His2330His/c.6990C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6990C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6990C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280372">View</a>	GT:AD:DP:GQ:PL:TP	1|0:267,82:349:99:2133,0,7884:127	0|0:472,0:472:99:0,1419,16327:127	1|0:263,72:335:99:1760,0,7845:127
1	152280471	.	C	G	10020.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1125;MQ=61.70;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs78179835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78179835" target="_blank">rs78179835</a>;ExAC.Info.AC=26276;ExAC.Info.AN=126702;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=26210;ExAC.Info.AC_Hom=23;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6891C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu2297Asp/c.6891G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6891G>C_p.Glu2297Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6891G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280471">View</a>	GT:AD:DP:GQ:PL:TP	1|0:288,105:393:99:2468,0,9530:127	0|0:371,0:371:99:0,1116,14131:127	1|0:265,96:361:99:2218,0,8781:127
1	152280559	.	T	C	981.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=818;MQ=68.86;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs150122015;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150122015" target="_blank">rs150122015</a>;ExAC.Info.AC=815;ExAC.Info.AN=126704;ExAC.Info.AF=6.432e-03;ExAC.Info.AC_Het=792;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6803T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His2268Arg/c.6803A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6803A>G_p.His2268Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6803A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280559">View</a>	GT:AD:DP:GQ:PL:TP	1|0:233,27:260:99:351,0,12870:127	0|0:298,0:298:99:0,921,18118:127	1|0:235,25:260:99:274,0,13449:127
1	152280573	.	C	A	358.54	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=783;MQ=69.03;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs76471961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76471961" target="_blank">rs76471961</a>;ExAC.Info.AC=2143;ExAC.Info.AN=126704;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=3964;ExAC.Info.AC_Hom=21;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6789C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcT;snpeff.Amino_Acid_Change=p.Ala2263Ala/c.6789G>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6789G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6789G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280573">View</a>	GT:AD:DP:GQ:PL:TP	1|0:214,19:233:99:170,0,12592:127	0|0:297,0:297:99:0,954,18852:127	1|0:233,20:253:99:114,0,13787:127
1	152280685	.	C	A	858.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=869;MQ=69.69;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=10418;ExAC.Info.AN=126704;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=10179;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6677C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6677C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gTc;snpeff.Amino_Acid_Change=p.Gly2226Val/c.6677G>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6677G>T_p.Gly2226Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6677G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280685">View</a>	GT:AD:DP:GQ:PL:TP	1|0:255,29:284:99:540,0,11115:127	0|0:314,0:314:99:0,990,14805:127	1|0:253,18:271:99:132,0,10977:127
1	152280687	.	C	T	1281.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=882;MQ=69.69;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);ExAC.Info.AC=10409;ExAC.Info.AN=126704;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=10173;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6675C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6675C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val2225Val/c.6675G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6675G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6675G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280687">View</a>	GT:AD:DP:GQ:PL:TP	1|0:257,32:289:99:570,0,11253:127	0|0:316,0:316:99:0,981,14650:127	1|0:255,22:277:99:300,0,10925:127
1	152280688	.	A	G	1377.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=881;MQ=69.69;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs116918835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=116918835" target="_blank">rs116918835</a>;ExAC.Info.AC=10406;ExAC.Info.AN=126704;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=10181;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6674A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6674A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val2225Ala/c.6674T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6674T>C_p.Val2225Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6674T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280688">View</a>	GT:AD:DP:GQ:PL:TP	1|0:258,33:291:99:612,0,11250:127	0|0:313,0:313:99:0,987,14740:127	1|0:254,23:277:99:288,0,11093:127
1	152280691	.	A	T	1465.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=893;MQ=69.69;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs117945779;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=117945779" target="_blank">rs117945779</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6671A>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6671A>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cAg;snpeff.Amino_Acid_Change=p.Leu2224Gln/c.6671T>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6671T>A_p.Leu2224Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6671T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280691">View</a>	GT:AD:DP:GQ:PL:TP	1|0:264,35:299:99:655,0,11193:127	0|0:314,0:314:99:0,966,14424:127	1|0:254,26:280:99:306,0,10818:127
1	152280736	.	T	C	10658.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1059;MQ=69.62;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs78974621;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78974621" target="_blank">rs78974621</a>;ExAC.Info.AC=29678;ExAC.Info.AN=126704;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=29673;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6626T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6626T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His2209Arg/c.6626A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6626A>G_p.His2209Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6626A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280736">View</a>	GT:AD:DP:GQ:PL:TP	1|0:269,91:360:99:3038,0,10572:127	0|0:354,0:354:99:0,1074,15384:127	1|0:277,68:345:99:2032,0,11208:127
1	152280759	.	A	G	13476.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1110;MQ=69.57;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs2338554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2338554" target="_blank">rs2338554</a>;ExAC.Info.AC=30428;ExAC.Info.AN=126698;ExAC.Info.AF=0.240;ExAC.Info.AC_Het=29096;ExAC.Info.AC_Hom=666;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6603A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6603A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp2201Asp/c.6603T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6603T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6603T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280759">View</a>	GT:AD:DP:GQ:PL:TP	1|0:278,108:386:99:3518,0,11223:127	0|0:360,0:360:99:0,1135,16837:127	1|0:274,90:364:99:2746,0,11269:127
1	152280782	.	A	G	41356.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1187;MQ=69.40;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2184953;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2184953" target="_blank">rs2184953</a>;ExAC.Info.AC=39970;ExAC.Info.AN=126678;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=22340;ExAC.Info.AC_Hom=8815;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6580A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Cat;snpeff.Amino_Acid_Change=p.Tyr2194His/c.6580T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6580T>C_p.Tyr2194His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6580T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280782">View</a>	GT:AD:DP:GQ:PL:TP	1|0:149,262:411:99:10037,0,3818:127	0|0:387,0:387:99:0,1164,14037:127	1|0:144,245:389:99:9230,0,4044:127
1	152280788	.	T	G	13920.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1201;MQ=69.36;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs66954353;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66954353" target="_blank">rs66954353</a>;ExAC.Info.AC=29890;ExAC.Info.AN=126700;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=29780;ExAC.Info.AC_Hom=61;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6574T>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Caa;snpeff.Amino_Acid_Change=p.Lys2192Gln/c.6574A>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6574A>C_p.Lys2192Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6574A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280788">View</a>	GT:AD:DP:GQ:PL:TP	1|0:290,125:415:99:3490,0,10558:127	0|0:396,0:396:99:0,1216,17791:127	1|0:280,110:390:99:3130,0,10275:127
1	152280864	.	A	G	29649.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=981;MQ=68.54;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs2184954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2184954" target="_blank">rs2184954</a>;ExAC.Info.AC=37120;ExAC.Info.AN=126700;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=22702;ExAC.Info.AC_Hom=7209;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6498A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser2166Ser/c.6498T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6498T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6498T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280864">View</a>	GT:AD:DP:GQ:PL:TP	1|0:123,211:334:99:7084,0,3189:127	0|0:325,1:326:99:0,969,11990:127	1|0:130,191:321:99:6400,0,3815:127
1	152280900	.	T	G	11548.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=896;MQ=69.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs74129452;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74129452" target="_blank">rs74129452</a>;ExAC.Info.AC=29850;ExAC.Info.AN=126704;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=29871;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6462T>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caA/caC;snpeff.Amino_Acid_Change=p.Gln2154His/c.6462A>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6462A>C_p.Gln2154His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6462A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152280900">View</a>	GT:AD:DP:GQ:PL:TP	1|0:206,106:312:99:2987,0,6721:127	0|0:303,0:303:99:0,910,11443:127	1|0:200,81:281:99:2223,0,6985:127
1	152281007	.	A	G	13929.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=600;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7512553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7512553" target="_blank">rs7512553</a>;ExAC.Info.AC=27845;ExAC.Info.AN=126704;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=27845;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6355A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Cat;snpeff.Amino_Acid_Change=p.Tyr2119His/c.6355T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6355T>C_p.Tyr2119His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6355T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152281007">View</a>	GT:AD:DP:GQ:PL:TP	1|0:150,87:237:99:3222,0,6595:127	0|0:182,0:182:99:0,551,9069:127	1|0:99,82:181:99:3134,0,4541:127
1	152281008	.	A	G	13929.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=599;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs7512554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7512554" target="_blank">rs7512554</a>;ExAC.Info.AC=27845;ExAC.Info.AN=126704;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=27845;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6354A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His2118His/c.6354T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6354T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6354T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152281008">View</a>	GT:AD:DP:GQ:PL:TP	1|0:150,85:235:99:3222,0,6595:127	0|0:181,0:181:99:0,551,9069:127	1|0:101,82:183:99:3134,0,4541:127
1	152281039	.	G	A	11122.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=640;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7522925;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7522925" target="_blank">rs7522925</a>;ExAC.Info.AC=27857;ExAC.Info.AN=126704;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=27857;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6323G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala2108Val/c.6323C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6323C>T_p.Ala2108Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6323C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152281039">View</a>	GT:AD:DP:GQ:PL:TP	1|0:163,87:250:99:2500,0,5433:127	0|0:197,0:197:99:0,592,7248:127	1|0:112,81:193:99:2320,0,3562:127
1	152281228	.	C	G	9121.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=744;MQ=68.73;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7546186;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7546186" target="_blank">rs7546186</a>;ExAC.Info.AC=27605;ExAC.Info.AN=126704;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=27594;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6134C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6134C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aCt;snpeff.Amino_Acid_Change=p.Ser2045Thr/c.6134G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6134G>C_p.Ser2045Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6134G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152281228">View</a>	GT:AD:DP:GQ:PL:TP	1|0:190,62:252:99:1632,0,6984:127	0|0:228,0:228:99:0,686,9352:127	1|0:200,64:264:99:1627,0,7335:127
1	152281290	.	A	G	13978.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=982;MQ=67.99;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs80353812;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80353812" target="_blank">rs80353812</a>;ExAC.Info.AC=27826;ExAC.Info.AN=126704;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=27818;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6072A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6072A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His2024His/c.6072T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6072T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6072T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152281290">View</a>	GT:AD:DP:GQ:PL:TP	1|0:244,86:330:99:2818,0,10030:127	0|0:296,0:296:99:0,912,13346:127	1|0:263,93:356:99:3019,0,10864:127
1	152281304	.	A	C	14656.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1038;MQ=68.16;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7512857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7512857" target="_blank">rs7512857</a>;ExAC.Info.AC=27583;ExAC.Info.AN=126704;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=27587;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6058A>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6058A>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Gca;snpeff.Amino_Acid_Change=p.Ser2020Ala/c.6058T>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.6058T>G_p.Ser2020Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.6058T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152281304">View</a>	GT:AD:DP:GQ:PL:TP	1|0:257,93:350:99:3097,0,10324:127	0|0:313,0:313:99:0,963,13998:127	1|0:277,98:375:99:3177,0,11312:127
1	152281479	.	G	T	32697.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=917;MQ=69.38;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3126079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3126079" target="_blank">rs3126079</a>;ExAC.Info.AC=39943;ExAC.Info.AN=126704;ExAC.Info.AF=0.315;ExAC.Info.AC_Het=22543;ExAC.Info.AC_Hom=8814;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5883G>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caC/caA;snpeff.Amino_Acid_Change=p.His1961Gln/c.5883C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.5883C>A_p.His1961Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.5883C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152281479">View</a>	GT:AD:DP:GQ:PL:TP	1|0:107,207:314:99:6895,0,3001:127	0|0:294,1:295:99:0,848,11038:127	1|0:89,219:308:99:7411,0,2539:127
1	152281523	.	A	C	15203.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=931;MQ=69.18;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs80059102;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80059102" target="_blank">rs80059102</a>;ExAC.Info.AC=27696;ExAC.Info.AN=126704;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=27739;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5839A>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Ggg;snpeff.Amino_Acid_Change=p.Trp1947Gly/c.5839T>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.5839T>G_p.Trp1947Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.5839T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152281523">View</a>	GT:AD:DP:GQ:PL:TP	1|0:217,95:312:99:3292,0,8840:127	0|0:293,0:293:99:0,903,13271:127	1|0:220,106:326:99:3757,0,9034:127
1	152281534	.	A	T	14643.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=938;MQ=69.07;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs113544881;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113544881" target="_blank">rs113544881</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5828A>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTt/cAt;snpeff.Amino_Acid_Change=p.Leu1943His/c.5828T>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.5828T>A_p.Leu1943His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.5828T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152281534">View</a>	GT:AD:DP:GQ:PL:TP	1|0:216,90:306:99:3190,0,8733:127	0|0:297,0:297:99:0,909,13370:127	1|0:233,102:335:99:3629,0,9328:127
1	152281690	.	C	T	23997.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1051;MQ=69.97;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12407748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12407748" target="_blank">rs12407748</a>;ExAC.Info.AC=28882;ExAC.Info.AN=126704;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=19073;ExAC.Info.AC_Hom=4903;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5672C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5672C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg1891Gln/c.5672G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.5672G>A_p.Arg1891Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.5672G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152281690">View</a>	GT:AD:DP:GQ:PL:TP	1|0:170,175:345:99:5562,0,4901:127	0|0:367,0:367:99:0,1103,13266:127	1|0:167,172:339:99:5723,0,5175:127
1	152281948	.	G	A	19748.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=958;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12405241;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12405241" target="_blank">rs12405241</a>;ExAC.Info.AC=28897;ExAC.Info.AN=126704;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=19055;ExAC.Info.AC_Hom=4921;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5414G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala1805Val/c.5414C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.5414C>T_p.Ala1805Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.5414C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152281948">View</a>	GT:AD:DP:GQ:PL:TP	1|0:135,170:305:99:4977,0,4172:127	0|0:381,1:382:99:0,1118,14127:127	1|0:127,144:271:99:4535,0,3970:127
1	152282267	.	G	A	19762.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1090;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12405278;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12405278" target="_blank">rs12405278</a>;ExAC.Info.AC=28899;ExAC.Info.AN=126702;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=19055;ExAC.Info.AC_Hom=4922;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5095G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5095G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg1699Cys/c.5095C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.5095C>T_p.Arg1699Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.5095C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152282267">View</a>	GT:AD:DP:GQ:PL:TP	1|0:188,166:354:99:4798,0,5738:127	0|0:403,1:404:99:0,1180,14511:127	1|0:197,135:332:99:3846,0,6147:127
1	152282311	.	C	T	20845.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1151;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12407807;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12407807" target="_blank">rs12407807</a>;ExAC.Info.AC=29299;ExAC.Info.AN=126704;ExAC.Info.AF=0.231;ExAC.Info.AC_Het=19404;ExAC.Info.AC_Hom=4947;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5051C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5051C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg1684His/c.5051G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.5051G>A_p.Arg1684His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.5051G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152282311">View</a>	GT:AD:DP:GQ:PL:TP	1|0:188,189:377:99:5243,0,5517:127	0|0:413,1:414:99:0,1203,15143:127	1|0:205,155:360:99:4449,0,6333:127
1	152282917	.	G	T	17435.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=958;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11204978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11204978" target="_blank">rs11204978</a>;ExAC.Info.AC=28891;ExAC.Info.AN=126702;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=19071;ExAC.Info.AC_Hom=4912;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4445G>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tAc;snpeff.Amino_Acid_Change=p.Ser1482Tyr/c.4445C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.4445C>A_p.Ser1482Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.4445C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152282917">View</a>	GT:AD:DP:GQ:PL:TP	1|0:152,153:305:99:4087,0,4901:127	0|0:368,0:368:99:0,1107,13839:127	1|0:154,131:285:99:3773,0,5021:127
1	152283236	.	T	C	20890.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1088;MQ=68.35;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11581433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11581433" target="_blank">rs11581433</a>;ExAC.Info.AC=32994;ExAC.Info.AN=126704;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=21242;ExAC.Info.AC_Hom=5874;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4126T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4126T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg1376Gly/c.4126A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.4126A>G_p.Arg1376Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.4126A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152283236">View</a>	GT:AD:DP:GQ:PL:TP	1|0:185,157:342:99:4657,0,5874:127	0|0:388,0:388:99:0,1166,14883:127	1|0:186,172:358:99:5273,0,6063:127
1	152283267	.	T	A	12033.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1120;MQ=68.70;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs11581451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11581451" target="_blank">rs11581451</a>;ExAC.Info.AC=1511;ExAC.Info.AN=126704;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1471;ExAC.Info.AC_Hom=20;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4095T>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4095T>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcT;snpeff.Amino_Acid_Change=p.Ala1365Ala/c.4095A>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.4095A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.4095A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152283267">View</a>	GT:AD:DP:GQ:PL:TP	0|0:354,0:354:99:0,1076,14525:127	0|1:205,191:396:99:6194,0,6582:127	0|0:370,0:370:99:0,1122,15091:127
1	152283283	.	C	T	21234.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1118;MQ=68.93;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11586631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11586631" target="_blank">rs11586631</a>;ExAC.Info.AC=28914;ExAC.Info.AN=126704;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=19100;ExAC.Info.AC_Hom=4905;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4079C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4079C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg1360His/c.4079G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.4079G>A_p.Arg1360His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.4079G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152283283">View</a>	GT:AD:DP:GQ:PL:TP	1|0:183,172:355:99:4848,0,5618:127	0|0:391,0:391:99:0,1182,15771:127	1|0:198,174:372:99:5113,0,5940:127
1	152283862	.	G	C	19333.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=898;MQ=67.53;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs58001094;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58001094" target="_blank">rs58001094</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=38602;ExAC.Info.AN=126704;ExAC.Info.AF=0.305;ExAC.Info.AC_Het=23463;ExAC.Info.AC_Hom=7310;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3500G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gGa;snpeff.Amino_Acid_Change=p.Ala1167Gly/c.3500C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.3500C>G_p.Ala1167Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.3500C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152283862">View</a>	GT:AD:DP:GQ:PL:TP	1|0:142,133:275:99:4144,0,4796:127	0|0:351,0:351:99:0,1055,13460:127	1|0:138,134:272:99:4239,0,4549:127
1	152283975	.	A	G	17035.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=819;MQ=63.15;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs66831674;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66831674" target="_blank">rs66831674</a>;ExAC.Info.AC=37100;ExAC.Info.AN=126698;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=22671;ExAC.Info.AC_Hom=7208;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3387A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser1129Ser/c.3387T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.3387T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.3387T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152283975">View</a>	GT:AD:DP:GQ:PL:TP	1|0:138,129:267:99:3872,0,4424:127	0|0:307,1:308:99:0,883,11586:127	1|0:130,114:244:99:3440,0,4244:127
1	152284478	.	A	G	709.54	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1028;MQ=68.69;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199888588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199888588" target="_blank">rs199888588</a>;ExAC.Info.AC=1934;ExAC.Info.AN=126704;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1849;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2884A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp962Arg/c.2884T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2884T>C_p.Trp962Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.2884T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152284478">View</a>	GT:AD:DP:GQ:PL:TP	1|0:305,24:329:36:36,0,12486:36	0|0:347,0:347:99:0,1056,15384:36	1|0:318,34:352:99:444,0,13020:36
1	152284497	.	A	G	516.54	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1041;MQ=68.67;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs144437056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144437056" target="_blank">rs144437056</a>;ExAC.Info.AC=2664;ExAC.Info.AN=126704;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2549;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2865A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2865A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His955His/c.2865T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2865T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.2865T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152284497">View</a>	GT:AD:DP:GQ:PL:TP	1|0:313,23:336:89:89,0,13477:89	0|0:354,1:355:99:0,1111,16592:89	1|0:320,30:350:99:285,0,13736:89
1	152284505	.	C	G	221.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1068;MQ=68.84;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201137357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201137357" target="_blank">rs201137357</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=3107;ExAC.Info.AN=126704;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=2989;ExAC.Info.AC_Hom=4;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2857C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2857C>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Cag;snpeff.Amino_Acid_Change=p.Glu953Gln/c.2857G>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2857G>C_p.Glu953Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.2857G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152284505">View</a>	GT:AD:DP:GQ:PL:TP	0|0:325,21:346:54:0,54,13435:54	0|0:366,1:367:99:0,1111,16468:54	0|1:327,28:355:99:170,0,13837:54
1	152284854	.	A	G	16526.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=767;MQ=69.89;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs3120653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3120653" target="_blank">rs3120653</a>;ExAC.Info.AC=37544;ExAC.Info.AN=126702;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=22721;ExAC.Info.AC_Hom=7418;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2508A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp836Asp/c.2508T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2508T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.2508T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152284854">View</a>	GT:AD:DP:GQ:PL:TP	1|0:143,143:286:99:4234,0,4140:127	0|0:302,0:302:99:0,907,11258:127	1|0:96,83:179:99:2577,0,2945:127
1	152284948	.	G	A	5343.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=753;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72698904;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72698904" target="_blank">rs72698904</a>;ExAC.Info.AC=422;ExAC.Info.AN=126702;ExAC.Info.AF=3.331e-03;ExAC.Info.AC_Het=417;ExAC.Info.AC_Hom=3;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tTc;snpeff.Amino_Acid_Change=p.Ser805Phe/c.2414C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2414C>T_p.Ser805Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.2414C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152284948">View</a>	GT:AD:DP:GQ:PL:TP	0|0:258,0:258:99:0,774,9667:127	0|0:296,0:296:99:0,888,11439:127	0|1:102,97:199:99:2800,0,3137:127
1	152285099	.	C	T	20297.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=916;MQ=69.75;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs74129461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74129461" target="_blank">rs74129461</a>;ExAC.Info.AC=32295;ExAC.Info.AN=126700;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=20728;ExAC.Info.AC_Hom=5783;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2263C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Aaa;snpeff.Amino_Acid_Change=p.Glu755Lys/c.2263G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2263G>A_p.Glu755Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.2263G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152285099">View</a>	GT:AD:DP:GQ:PL:TP	1|0:141,137:278:99:3970,0,4760:127	0|0:346,0:346:99:0,1040,13683:127	1|0:148,144:292:99:4367,0,4984:127
1	152285930	.	G	A	16125.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=732;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11584340;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11584340" target="_blank">rs11584340</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Psoriasis|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=135940;hgmd_2014.2.PubMed=18193244;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=18193244" target="_blank">18193244</a>;ExAC.Info.AC=32968;ExAC.Info.AN=126702;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=21263;ExAC.Info.AC_Hom=5852;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1432G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro478Ser/c.1432C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1432C>T_p.Pro478Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.1432C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152285930">View</a>	GT:AD:DP:GQ:PL:TP	1|0:120,117:237:99:3326,0,3960:127	0|0:294,0:294:99:0,883,11226:127	1|0:91,110:201:99:3360,0,2890:127
1	152286002	.	T	C	18372.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=842;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2011331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2011331" target="_blank">rs2011331</a>;ExAC.Info.AC=37183;ExAC.Info.AN=126704;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=22725;ExAC.Info.AC_Hom=7229;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.68T>C;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000392688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1360T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr454Ala/c.1360A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1360A>G_p.Thr454Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.1360A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152286002">View</a>	GT:AD:DP:GQ:PL:TP	1|0:132,139:271:99:4336,0,3677:127	0|0:335,0:335:99:0,1007,12004:127	1|0:121,115:236:99:3581,0,3733:127
1	152286032	.	C	T	19203.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=913;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11588170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11588170" target="_blank">rs11588170</a>;ExAC.Info.AC=28884;ExAC.Info.AN=126704;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=19084;ExAC.Info.AC_Hom=4900;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.98C>T;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000392688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1330C>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly444Arg/c.1330G>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1330G>A_p.Gly444Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.1330G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152286032">View</a>	GT:AD:DP:GQ:PL:TP	1|0:143,150:293:99:4556,0,4524:127	0|0:354,0:354:99:0,1064,13449:127	1|0:141,125:266:99:3835,0,4497:127
1	152286126	.	A	G	12365.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1209;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbSNP139.ID=rs11582620;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11582620" target="_blank">rs11582620</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=14892;ExAC.Info.AN=126704;ExAC.Info.AF=0.118;ExAC.Info.AC_Het=12816;ExAC.Info.AC_Hom=1038;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.192A>G;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000392688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1236A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1236A>G;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg412Arg/c.1236T>C;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1236T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.1236T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152286126">View</a>	GT:AD:DP:GQ:PL:TP	0|0:399,1:400:99:0,1166,14181:127	0|1:230,208:438:99:6151,0,7045:127	0|0:371,0:371:99:0,1115,13599:127
1	152286367	.	C	A	18950.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1084;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis_vulgaris|_146700_(3)|_{Dermatitis|_atopic|_susceptibility_to|_2}|_605803_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41267154;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41267154" target="_blank">rs41267154</a>;ExAC.Info.AC=32857;ExAC.Info.AN=126704;ExAC.Info.AF=0.259;ExAC.Info.AC_Het=21191;ExAC.Info.AC_Hom=5833;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.433C>A;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000392688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.995C>A;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gTc;snpeff.Amino_Acid_Change=p.Gly332Val/c.995G>T;snpeff.Amino_Acid_length=4061;snpeff.Gene_Name=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368799;SAVANT_GENE=FLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG" target="_blank">FLG</a>;SAVANT_INFO=-/23.0kb/3/12.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.995G>T_p.Gly332Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG+c.995G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152286367">View</a>	GT:AD:DP:GQ:PL:TP	1|0:190,152:342:99:3966,0,5994:127	0|0:389,0:389:99:0,1169,14974:127	1|0:192,161:353:99:4739,0,6404:127
1	152323132	.	G	T	6402.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs12568784;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12568784" target="_blank">rs12568784</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=24176758;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24176758" target="_blank">24176758</a>;ExAC.Info.AC=29224;ExAC.Info.AN=126690;ExAC.Info.AF=0.231;ExAC.Info.AC_Het=21026;ExAC.Info.AC_Hom=4091;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1406+9446G>T;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000392688;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=tCa/tAa;snpeff.Amino_Acid_Change=p.Ser2377*/c.7130C>A;snpeff.Amino_Acid_length=2391;snpeff.Gene_Name=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388718;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388718;SAVANT_GENE=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG2" target="_blank">FLG2</a>;SAVANT_INFO=-/11.3kb/3/9.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.7130C>A_p.Ser2377X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG2+c.7130C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152323132">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,47:105:99:1257,0,1963:127	0|0:124,0:124:99:0,373,4481:127	1|0:58,48:106:99:1338,0,1891:127
1	152325732	.	G	A	16407.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=836;MQ=69.90;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12022217;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12022217" target="_blank">rs12022217</a>;ExAC.Info.AC=29247;ExAC.Info.AN=126704;ExAC.Info.AF=0.231;ExAC.Info.AC_Het=21031;ExAC.Info.AC_Hom=4106;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1407-10731G>A;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000392688;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4530G>A;snpeff.Amino_Acid_length=2391;snpeff.Gene_Name=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388718;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His1510His/c.4530C>T;snpeff.Amino_Acid_length=2391;snpeff.Gene_Name=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388718;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388718;SAVANT_GENE=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG2" target="_blank">FLG2</a>;SAVANT_INFO=-/11.3kb/3/9.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.4530C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG2+c.4530C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152325732">View</a>	GT:AD:DP:GQ:PL:TP	1|0:119,105:224:99:3001,0,3510:127	0|0:331,0:331:99:0,995,12399:127	1|0:149,132:281:99:3745,0,4635:127
1	152329435	.	C	T	13629.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=639;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2282303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282303" target="_blank">rs2282303</a>;ExAC.Info.AC=30323;ExAC.Info.AN=126702;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=21398;ExAC.Info.AC_Hom=4461;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1407-7028C>T;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000392688;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Filaggrin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827C>T;snpeff.Amino_Acid_length=2391;snpeff.Gene_Name=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388718;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827C>T;snpeff.Amino_Acid_length=2391;snpeff.Gene_Name=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388718;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg276Gln/c.827G>A;snpeff.Amino_Acid_length=2391;snpeff.Gene_Name=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388718;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388718;SAVANT_GENE=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG2" target="_blank">FLG2</a>;SAVANT_INFO=-/11.3kb/3/9.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.827G>A_p.Arg276Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG2+c.827G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152329435">View</a>	GT:AD:DP:GQ:PL:TP	1|0:92,92:184:99:2641,0,2734:127	0|0:265,0:265:99:0,796,9423:127	1|0:114,76:190:99:2160,0,3557:127
1	152331240	.	G	A	6004.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3818831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818831" target="_blank">rs3818831</a>;ExAC.Info.AC=31252;ExAC.Info.AN=126702;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=21669;ExAC.Info.AC_Hom=4778;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1407-5223G>A;snpeff.Gene_Name=FLG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000392688;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121G>A;snpeff.Amino_Acid_length=2391;snpeff.Gene_Name=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388718;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:S-100-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121G>A;snpeff.Amino_Acid_length=2391;snpeff.Gene_Name=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388718;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:S-100-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121G>A;snpeff.Amino_Acid_length=2391;snpeff.Gene_Name=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388718;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Ttt;snpeff.Amino_Acid_Change=p.Leu41Phe/c.121C>T;snpeff.Amino_Acid_length=2391;snpeff.Gene_Name=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG-AS1" target="_blank">FLG-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388718;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388718;SAVANT_GENE=FLG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG2" target="_blank">FLG2</a>;SAVANT_INFO=-/11.3kb/3/9.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.121C>T_p.Leu41Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLG2+c.121C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152331240">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,38:84:99:1089,0,1454:127	0|0:103,0:103:99:0,310,3900:127	1|0:40,39:79:99:1275,0,1305:127
1	152382062	.	C	T	1714.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=74;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10888486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888486" target="_blank">rs10888486</a>;ExAC.Info.AC=25257;ExAC.Info.AN=126592;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=17957;ExAC.Info.AC_Hom=3127;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.95-35258C>T;snpeff.Gene_Name=RP1-91G5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-91G53" target="_blank">RP1-91G53</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000411804;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.*8G>A;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CRNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-91G53" target="_blank">RP1-91G53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271835;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271835;SAVANT_GENE=CRNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRNN" target="_blank">CRNN</a>;SAVANT_INFO=-/5.0kb/3/1.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*8G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRNN+c.*8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152382062">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,14:29:99:379,0,435:66	0|0:22,0:22:66:0,66,913:66	1|0:14,9:23:99:281,0,483:66
1	152382120	.	C	T	5340.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3829868;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829868" target="_blank">rs3829868</a>;ExAC.Info.AC=26045;ExAC.Info.AN=126702;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=19281;ExAC.Info.AC_Hom=3362;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.95-35200C>T;snpeff.Gene_Name=RP1-91G5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-91G53" target="_blank">RP1-91G53</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000411804;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly480Ser/c.1438G>A;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CRNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-91G53" target="_blank">RP1-91G53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271835;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271835;SAVANT_GENE=CRNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRNN" target="_blank">CRNN</a>;SAVANT_INFO=-/5.0kb/3/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1438G>A_p.Gly480Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRNN+c.1438G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152382120">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,43:79:99:1356,0,1068:127	0|0:95,0:95:99:0,286,3514:127	1|0:40,25:65:99:723,0,1201:127
1	152384759	.	A	G	5340.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7521839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7521839" target="_blank">rs7521839</a>;ExAC.Info.AC=27980;ExAC.Info.AN=126648;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=20210;ExAC.Info.AC_Hom=3692;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-13-37T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CRNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRNN" target="_blank">CRNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271835;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.95-32561A>G;snpeff.Gene_Name=RP1-91G5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRNN" target="_blank">CRNN</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000411804;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271835;SAVANT_GENE=CRNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRNN" target="_blank">CRNN</a>;SAVANT_INFO=-/5.0kb/3/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-50T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRNN+c.-50T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152384759">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,38:89:99:1012,0,1273:127	0|0:99,0:99:99:0,297,3113:127	1|0:29,41:70:99:1180,0,772:127
1	152484129	.	G	A	31324.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=638;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2105117;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2105117" target="_blank">rs2105117</a>;ExAC.Info.AC=77509;ExAC.Info.AN=126704;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=28808;ExAC.Info.AC_Hom=24348;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.119G>A;snpeff.Amino_Acid_length=118;snpeff.Gene_Name=LCE5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE5A" target="_blank">LCE5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334269;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tAt;snpeff.Amino_Acid_Change=p.Cys40Tyr/c.119G>A;snpeff.Amino_Acid_length=118;snpeff.Gene_Name=LCE5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE5A" target="_blank">LCE5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334269;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334269;SAVANT_GENE=LCE5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE5A" target="_blank">LCE5A</a>;SAVANT_INFO=+/1.3kb/2/0.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.119G>A_p.Cys40Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LCE5A+c.119G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152484129">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,201:201:99:6397,602,0:127	1|0:133,112:245:99:3194,0,3906:127	1|0:92,100:192:99:2917,0,2806:127
1	152487979	.	C	T	5361.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2282296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282296" target="_blank">rs2282296</a>;ExAC.Info.AC=72686;ExAC.Info.AN=121814;ExAC.Info.AF=0.597;ExAC.Info.AC_Het=23136;ExAC.Info.AC_Hom=19999;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.120C>T;snpeff.Amino_Acid_length=99;snpeff.Gene_Name=CRCT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRCT1" target="_blank">CRCT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368790;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys40Cys/c.120C>T;snpeff.Amino_Acid_length=99;snpeff.Gene_Name=CRCT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRCT1" target="_blank">CRCT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368790;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368790;SAVANT_GENE=CRCT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRCT1" target="_blank">CRCT1</a>;SAVANT_INFO=+/1.5kb/2/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.120C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRCT1+c.120C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152487979">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1053,87,0:87	1|0:15,21:36:99:602,0,383:87	1|0:14,11:25:99:375,0,465:87
1	152488063	.	C	T	3935.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=59;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1053588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1053588" target="_blank">rs1053588</a>;ExAC.Info.AC=76048;ExAC.Info.AN=121872;ExAC.Info.AF=0.624;ExAC.Info.AC_Het=21516;ExAC.Info.AC_Hom=20594;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.204C>T;snpeff.Amino_Acid_length=99;snpeff.Gene_Name=CRCT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRCT1" target="_blank">CRCT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368790;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg68Arg/c.204C>T;snpeff.Amino_Acid_length=99;snpeff.Gene_Name=CRCT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRCT1" target="_blank">CRCT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368790;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368790;SAVANT_GENE=CRCT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRCT1" target="_blank">CRCT1</a>;SAVANT_INFO=+/1.5kb/2/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.204C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRCT1+c.204C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152488063">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,18:18:54:602,54,0:54	1|0:12,13:25:99:362,0,321:54	1|0:9,7:16:99:171,0,298:54
1	152537954	.	G	A	18358.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=564;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs10888501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888501" target="_blank">rs10888501</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888501" target="_blank">rs10888501</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152537954">View</a>	GT:AD:DP:GQ:PL:TP	0|1:95,98:193:99:2534,0,2752:127	1|1:0,180:180:99:5995,541,0:127	0|0:191,0:191:99:0,574,6694:127
1	152552285	.	C	A	5071.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=167;MQ=64.06;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs512208;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=512208" target="_blank">rs512208</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Psoriasis|_predisposition_to;hgmd_2014.2.OMIM_ID=612616;hgmd_2014.2.PubMed=24212883;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24212883" target="_blank">24212883</a>;ExAC.Info.AC=40506;ExAC.Info.AN=126682;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=26412;ExAC.Info.AC_Hom=7032;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gTc;snpeff.Amino_Acid_Change=p.Gly43Val/c.128G>T;snpeff.Amino_Acid_length=92;snpeff.Gene_Name=LCE3D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE3D" target="_blank">LCE3D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368787;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368787;SAVANT_GENE=LCE3D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE3D" target="_blank">LCE3D</a>;SAVANT_INFO=-/1.1kb/2/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.128G>T_p.Gly43Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LCE3D+c.128G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152552285">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,26:54:99:710,0,843:127	1|0:21,43:64:99:1306,0,657:127	0|0:49,0:49:99:0,147,1864:127
1	152681680	.	C	CAGCTCTGGGGGCTGCTGT	21413.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=274;MQ=70.01;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs6143428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6143428" target="_blank">rs6143428</a>;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130_131insAGCTCTGGGGGCTGCTGT;snpeff.Amino_Acid_length=99;snpeff.Gene_Name=LCE4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE4A" target="_blank">LCE4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335535;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=agc/AGCTCTGGGGGCTGCTGTagc;snpeff.Amino_Acid_Change=p.Ser44_Ser45insSerSerGlyGlyCysCysSer/c.130_131insAGCTCTGGGGGCTGCTGT;snpeff.Amino_Acid_length=99;snpeff.Gene_Name=LCE4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE4A" target="_blank">LCE4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335535;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368777;SAVANT_GENE=LCE4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE4A" target="_blank">LCE4A</a>;SAVANT_INFO=+/1.3kb/2/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.143_144insCTGTAGCTCTGGGGGCTG_p.Cys48_Gly49insCysSerSerGlyGlyCys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LCE4A+c.143_144insCTGTAGCTCTGGGGGCTG+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152681680">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:3473,227,0:127	1|1:2,86:88:99:4082,196,0:127	1|0:77,35:112:99:1225,0,4353:127
1	152692074	.	G	C	7098.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1332500;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1332500" target="_blank">rs1332500</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=8301;ExAC.Info.AN=28664;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=5114;ExAC.Info.AC_Hom=1341;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aCc;snpeff.Amino_Acid_Change=p.Ser26Thr/c.77G>C;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=C1orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf68" target="_blank">C1orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368775;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362017;SAVANT_GENE=C1orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf68" target="_blank">C1orf68</a>;SAVANT_INFO=+/1.9kb/2/1.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.77G>C_p.Ser26Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf68+c.77G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152692074">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,46:90:99:1465,0,1385:127	1|0:54,52:106:99:1598,0,1734:127	0|0:92,0:92:99:0,277,3427:127
1	152692472	.	A	C	10126.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs873775;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=873775" target="_blank">rs873775</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=8491;ExAC.Info.AN=29316;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=5003;ExAC.Info.AC_Hom=1297;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.475A>C;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=C1orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf68" target="_blank">C1orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368775;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Cct;snpeff.Amino_Acid_Change=p.Thr159Pro/c.475A>C;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=C1orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf68" target="_blank">C1orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368775;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362017;SAVANT_GENE=C1orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf68" target="_blank">C1orf68</a>;SAVANT_INFO=+/1.9kb/2/1.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.475A>C_p.Thr159Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf68+c.475A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152692472">View</a>	GT:AD:DP:GQ:PL:TP	0|1:82,67:149:99:2004,0,2338:127	1|0:85,62:147:99:1905,0,2473:127	0|0:148,2:150:99:0,430,5056:127
1	152692588	.	A	G	13066.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=563;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs944682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=944682" target="_blank">rs944682</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=8085;ExAC.Info.AN=28922;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=4946;ExAC.Info.AC_Hom=1270;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>G;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=C1orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf68" target="_blank">C1orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368775;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser197Ser/c.591A>G;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=C1orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf68" target="_blank">C1orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368775;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362017;SAVANT_GENE=C1orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf68" target="_blank">C1orf68</a>;SAVANT_INFO=+/1.9kb/2/1.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.591A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf68+c.591A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152692588">View</a>	GT:AD:DP:GQ:PL:TP	0|1:93,99:192:99:2849,0,2557:127	1|0:92,92:184:99:2566,0,2752:127	0|0:187,0:187:99:0,562,6450:127
1	152732106	.	A	T	2671.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17612167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17612167" target="_blank">rs17612167</a>;ExAC.Info.AC=28386;ExAC.Info.AN=126702;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=21283;ExAC.Info.AC_Hom=3545;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caA/caT;snpeff.Amino_Acid_Change=p.Gln14His/c.42A>T;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=KPRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KPRP" target="_blank">KPRP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368773;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368773;SAVANT_GENE=KPRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KPRP" target="_blank">KPRP</a>;SAVANT_INFO=+/4.0kb/2/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.42A>T_p.Gln14His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KPRP+c.42A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152732106">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2067:127	0|1:37,45:82:99:1355,0,1062:127	0|0:62,0:62:99:0,186,2206:127
1	152732436	.	G	C	10887.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs4845480;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845480" target="_blank">rs4845480</a>;ExAC.Info.AC=61000;ExAC.Info.AN=126704;ExAC.Info.AF=0.481;ExAC.Info.AC_Het=31237;ExAC.Info.AC_Hom=14882;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcC;snpeff.Amino_Acid_Change=p.Ala124Ala/c.372G>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=KPRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KPRP" target="_blank">KPRP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368773;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368773;SAVANT_GENE=KPRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KPRP" target="_blank">KPRP</a>;SAVANT_INFO=+/4.0kb/2/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.372G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KPRP+c.372G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152732436">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1998,156,0:127	1|0:34,27:61:99:845,0,989:127	1|0:22,32:54:99:966,0,675:127
1	152733301	.	T	A	20971.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4329520;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4329520" target="_blank">rs4329520</a>;ExAC.Info.AC=60992;ExAC.Info.AN=126704;ExAC.Info.AF=0.481;ExAC.Info.AC_Het=31230;ExAC.Info.AC_Hom=14856;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Agc;snpeff.Amino_Acid_Change=p.Cys413Ser/c.1237T>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=KPRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KPRP" target="_blank">KPRP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368773;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368773;SAVANT_GENE=KPRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KPRP" target="_blank">KPRP</a>;SAVANT_INFO=+/4.0kb/2/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1237T>A_p.Cys413Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KPRP+c.1237T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152733301">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3674,310,0:127	1|0:103,72:175:99:1975,0,2854:127	1|0:61,50:111:99:1386,0,1784:127
1	152749091	.	C	T	419.08	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=27;MQ=69.66;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41268480;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41268480" target="_blank">rs41268480</a>;ExAC.Info.AC=21099;ExAC.Info.AN=126612;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=16578;ExAC.Info.AC_Hom=2151;snpeff.Effect=sequence_feature[compositionally_biased_region:Poly-Arg];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.244C>T;snpeff.Amino_Acid_length=118;snpeff.Gene_Name=LCE1F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE1F" target="_blank">LCE1F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg82Trp/c.244C>T;snpeff.Amino_Acid_length=118;snpeff.Gene_Name=LCE1F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE1F" target="_blank">LCE1F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334371;SAVANT_GENE=LCE1F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE1F" target="_blank">LCE1F</a>;SAVANT_INFO=+/0.6kb/1/0.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.244C>T_p.Arg82Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LCE1F+c.244C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152749091">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,0:11:33:0,33,377:12	0|1:5,7:12:99:228,0,166:12	0|0:4,0:4:12:0,12,175:12
1	152777964	.	G	A	5616.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs17624493;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17624493" target="_blank">rs17624493</a>;ExAC.Info.AC=32646;ExAC.Info.AN=126700;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=22646;ExAC.Info.AC_Hom=4898;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LCE1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE1C" target="_blank">LCE1C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368768;SAVANT_GENE=LCE1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE1C" target="_blank">LCE1C</a>;SAVANT_INFO=-/1.8kb/2/0.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-10C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LCE1C+c.-10C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152777964">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1093,102,0:101	1|0:20,15:35:99:433,0,522:101	1|0:19,9:28:99:252,0,522:101
1	152785170	.	G	A	3069.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=118;MQ=69.70;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56056379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56056379" target="_blank">rs56056379</a>;ExAC.Info.AC=3159;ExAC.Info.AN=126690;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=3038;ExAC.Info.AC_Hom=56;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.248G>A;snpeff.Amino_Acid_length=118;snpeff.Gene_Name=LCE1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE1B" target="_blank">LCE1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360090;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg83His/c.248G>A;snpeff.Amino_Acid_length=118;snpeff.Gene_Name=LCE1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE1B" target="_blank">LCE1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360090;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360090;SAVANT_GENE=LCE1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LCE1B" target="_blank">LCE1B</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.248G>A_p.Arg83His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LCE1B+c.248G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152785170">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,20:38:99:670,0,550:125	0|0:42,0:42:99:0,126,1516:125	1|0:20,18:38:99:526,0,642:125
1	152944594	.	C	T	6229.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3170863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3170863" target="_blank">rs3170863</a>;ExAC.Info.AC=71783;ExAC.Info.AN=126702;ExAC.Info.AF=0.567;ExAC.Info.AC_Het=29926;ExAC.Info.AC_Hom=20913;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228C>T;snpeff.Amino_Acid_length=79;snpeff.Gene_Name=SPRR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR4" target="_blank">SPRR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328051;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser76Ser/c.228C>T;snpeff.Amino_Acid_length=79;snpeff.Gene_Name=SPRR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR4" target="_blank">SPRR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328051;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328051;SAVANT_GENE=SPRR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR4" target="_blank">SPRR4</a>;SAVANT_INFO=+/1.9kb/2/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.228C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRR4+c.228C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152944594">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,52:104:99:1399,0,1663:127	1|0:76,57:133:99:1484,0,2458:127	0|0:68,0:68:99:0,205,2739:127
1	152975495	.	G	A	5997.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=262;MQ=69.91;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2075739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075739" target="_blank">rs2075739</a>;ExAC.Info.AC=67114;ExAC.Info.AN=126664;ExAC.Info.AF=0.530;ExAC.Info.AC_Het=30900;ExAC.Info.AC_Hom=17997;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2;snpeff.Amino_Acid_Change=c.-2G>A;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295367;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331860;SAVANT_GENE=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;SAVANT_INFO=+/2.1kb/3/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-2G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRR3+c.-2G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152975495">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,39:86:99:1044,0,1421:127	1|0:49,50:99:99:1299,0,1476:127	0|0:77,0:77:99:0,231,2955:127
1	152975810	.	G	A	1076.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=99;MQ=67.66;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72704847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72704847" target="_blank">rs72704847</a>;ExAC.Info.AC=398;ExAC.Info.AN=125304;ExAC.Info.AF=3.176e-03;ExAC.Info.AC_Het=388;ExAC.Info.AC_Hom=8;snpeff.Effect=sequence_feature[repeat:8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295367;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:14_X_8_AA_approximate_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295367;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gAc;snpeff.Amino_Acid_Change=p.Gly105Asp/c.314G>A;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295367;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331860;SAVANT_GENE=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;SAVANT_INFO=+/2.1kb/3/1.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.314G>A_p.Gly105Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRR3+c.314G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152975810">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1244:83	0|1:21,20:41:99:557,0,784:83	0|0:28,0:28:84:0,84,1066:83
1	152975829	.	A	G	3709.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=144;MQ=68.37;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1970328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1970328" target="_blank">rs1970328</a>;ExAC.Info.AC=67088;ExAC.Info.AN=126680;ExAC.Info.AF=0.530;ExAC.Info.AC_Het=31036;ExAC.Info.AC_Hom=17949;snpeff.Effect=sequence_feature[repeat:9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333A>G;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295367;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:14_X_8_AA_approximate_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333A>G;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295367;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu111Glu/c.333A>G;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295367;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331860;SAVANT_GENE=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;SAVANT_INFO=+/2.1kb/3/1.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.333A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRR3+c.333A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152975829">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,24:50:99:752,0,706:116	1|0:27,28:55:99:845,0,948:116	0|0:39,0:39:99:0,117,1349:116
1	152975941	.	C	G	6153.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=234;MQ=69.64;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1055935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1055935" target="_blank">rs1055935</a>;ExAC.Info.AC=68934;ExAC.Info.AN=126684;ExAC.Info.AF=0.544;ExAC.Info.AC_Het=30726;ExAC.Info.AC_Hom=18896;snpeff.Effect=sequence_feature[repeat:14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.445C>G;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295367;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:14_X_8_AA_approximate_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.445C>G;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295367;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cta/Gta;snpeff.Amino_Acid_Change=p.Leu149Val/c.445C>G;snpeff.Amino_Acid_length=169;snpeff.Gene_Name=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295367;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331860;SAVANT_GENE=SPRR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR3" target="_blank">SPRR3</a>;SAVANT_INFO=+/2.1kb/3/1.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.445C>G_p.Leu149Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRR3+c.445C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:152975941">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,35:70:99:1074,0,1048:127	1|0:44,48:92:99:1446,0,1284:127	0|0:72,0:72:99:0,216,2732:127
1	153004778	.	C	T	3443.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3820141;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820141" target="_blank">rs3820141</a>;ExAC.Info.AC=63226;ExAC.Info.AN=126498;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=30132;ExAC.Info.AC_Hom=15655;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-19-25C>T;snpeff.Amino_Acid_length=89;snpeff.Gene_Name=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307098;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307098;SAVANT_GENE=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;SAVANT_INFO=+/1.7kb/2/0.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRR1B+c.-44C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153004778">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,29:51:99:842,0,634:127	1|0:50,27:77:99:736,0,1507:127	0|0:53,0:53:99:0,159,1933:127
1	153004809	.	T	C	4738.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3181787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3181787" target="_blank">rs3181787</a>;ExAC.Info.AC=63623;ExAC.Info.AN=126660;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=31081;ExAC.Info.AC_Hom=16164;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=13;snpeff.Amino_Acid_Change=c.-13T>C;snpeff.Amino_Acid_length=89;snpeff.Gene_Name=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307098;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307098;SAVANT_GENE=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;SAVANT_INFO=+/1.7kb/2/0.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-13T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRR1B+c.-13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153004809">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,32:59:99:1082,0,719:127	1|0:57,41:98:99:1118,0,1635:127	0|0:56,0:56:99:0,168,1864:127
1	153004848	.	T	C	7730.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=244;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3795381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795381" target="_blank">rs3795381</a>;ExAC.Info.AC=63628;ExAC.Info.AN=126700;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=31304;ExAC.Info.AC_Hom=16130;snpeff.Effect=sequence_feature[region_of_interest:2_X_12_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.27T>C;snpeff.Amino_Acid_length=89;snpeff.Gene_Name=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307098;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.27T>C;snpeff.Amino_Acid_length=89;snpeff.Gene_Name=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307098;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro9Pro/c.27T>C;snpeff.Amino_Acid_length=89;snpeff.Gene_Name=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307098;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307098;SAVANT_GENE=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;SAVANT_INFO=+/1.7kb/2/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.27T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRR1B+c.27T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153004848">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,38:73:99:1491,0,1439:127	1|0:56,50:106:99:1914,0,2455:127	0|0:65,0:65:99:0,196,3268:127
1	153004853	.	C	T	7760.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=236;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795382;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795382" target="_blank">rs3795382</a>;cosmic68.Histology_subtype=squamous_cell_carcinoma;ExAC.Info.AC=63634;ExAC.Info.AN=126698;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=31308;ExAC.Info.AC_Hom=16138;snpeff.Effect=sequence_feature[region_of_interest:2_X_12_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32C>T;snpeff.Amino_Acid_length=89;snpeff.Gene_Name=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307098;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32C>T;snpeff.Amino_Acid_length=89;snpeff.Gene_Name=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307098;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aTc;snpeff.Amino_Acid_Change=p.Thr11Ile/c.32C>T;snpeff.Amino_Acid_length=89;snpeff.Gene_Name=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307098;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307098;SAVANT_GENE=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;SAVANT_INFO=+/1.7kb/2/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.32C>T_p.Thr11Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRR1B+c.32C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153004853">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,38:71:99:1550,0,1361:127	1|0:53,49:102:99:1875,0,2386:127	0|0:63,0:63:99:0,193,3243:127
1	153005156	.	C	T	10622.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2711" target="_blank">rs2711</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=65;snpeff.Amino_Acid_Change=c.*65C>T;snpeff.Amino_Acid_length=89;snpeff.Gene_Name=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307098;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307098;SAVANT_GENE=SPRR1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRR1B" target="_blank">SPRR1B</a>;SAVANT_INFO=+/1.7kb/2/0.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*65C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRR1B+c.*65C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153005156">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,52:112:99:1360,0,1686:127	1|0:64,90:154:99:2689,0,1548:127	0|0:123,0:123:99:0,370,4046:127
1	153233991	.	A	ACTCTGGCGGCGG	2588.99	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=37;MQ=68.24;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Vohwinkel_syndrome_with_ichthyosis|_604117_(3);dbSNP139.ID=rs11275959;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11275959" target="_blank">rs11275959</a>;ExAC.Info.AC=9707;ExAC.Info.AN=16728;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=2455;ExAC.Info.AC_Hom=2613;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=tac/taCTCTGGCGGCGGc;snpeff.Amino_Acid_Change=p.Tyr189_Ser190insTyrSerGlyGlyGly/c.567_568insCTCTGGCGGCGG;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=LOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOR" target="_blank">LOR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368742;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368742;SAVANT_GENE=LOR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOR" target="_blank">LOR</a>;SAVANT_INFO=+/2.4kb/2/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.574_585dup12_p.Gly192_Gly195dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LOR+c.574_585dup12+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153233991">View</a>	GT:AD:DP:GQ:PL:TP	1|0:7,8:15:99:310,0,270:30	0|1:6,7:13:99:436,0,219:30	1|1:0,9:9:30:443,30,0:30
1	153277423	.	C	T	3924.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs843971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=843971" target="_blank">rs843971</a>;ExAC.Info.AC=53394;ExAC.Info.AN=126702;ExAC.Info.AF=0.421;ExAC.Info.AC_Het=29839;ExAC.Info.AC_Hom=11705;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376G>A;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=PGLYRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP3" target="_blank">PGLYRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290722;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly126Ser/c.376G>A;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=PGLYRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP3" target="_blank">PGLYRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290722;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290722;SAVANT_GENE=PGLYRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP3" target="_blank">PGLYRP3</a>;SAVANT_INFO=-/12.9kb/7/1.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.376G>A_p.Gly126Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGLYRP3+c.376G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153277423">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,26:47:99:848,0,559:127	1|0:28,30:58:99:964,0,945:127	0|0:54,0:54:99:0,162,1980:127
1	153283004	.	C	T	18171.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=508;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs821423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=821423" target="_blank">rs821423</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.55+83G>A;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=PGLYRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP3" target="_blank">PGLYRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290722;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290722;SAVANT_GENE=PGLYRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP3" target="_blank">PGLYRP3</a>;SAVANT_INFO=-/12.9kb/7/1.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.55+83G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGLYRP3+c.55+83G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153283004">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,78:145:99:2127,0,1873:127	1|1:0,176:176:99:5877,529,0:127	0|0:187,0:187:99:0,562,6200:127
1	153314153	.	C	A	1300.59	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=51;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3006448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3006448" target="_blank">rs3006448</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Crohn's_disease|_increased_risk;hgmd_2014.2.OMIM_ID=608198;hgmd_2014.2.PubMed=23840689;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23840689" target="_blank">23840689</a>;ExAC.Info.AC=107099;ExAC.Info.AN=126700;ExAC.Info.AF=0.845;ExAC.Info.AC_Het=16405;ExAC.Info.AC_Hom=45337;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gTg;snpeff.Amino_Acid_Change=p.Gly192Val/c.575G>T;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359650;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359650;SAVANT_GENE=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;SAVANT_INFO=-/18.4kb/9/1.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.575G>T_p.Gly192Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGLYRP4+c.575G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153314153">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,1:11:4:4,0,275:5	1|1:1,14:15:5:459,5,0:5	0|0:25,0:25:75:0,75,906:5
1	153315579	.	A	G	14043.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3014863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3014863" target="_blank">rs3014863</a>;ExAC.Info.AC=114769;ExAC.Info.AN=126704;ExAC.Info.AF=0.906;ExAC.Info.AC_Het=10603;ExAC.Info.AC_Hom=52053;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe153Phe/c.459T>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359650;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359650;SAVANT_GENE=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;SAVANT_INFO=-/18.4kb/9/1.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.459T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGLYRP4+c.459T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153315579">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1748,150,0:127	1|1:0,74:74:99:2718,222,0:127	1|0:37,34:71:99:1020,0,1118:127
1	153320334	.	T	C	9832.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3006457;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3006457" target="_blank">rs3006457</a>;ExAC.Info.AC=106648;ExAC.Info.AN=126668;ExAC.Info.AF=0.842;ExAC.Info.AC_Het=16083;ExAC.Info.AC_Hom=43239;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.49+26A>G;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359650;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50T>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359650;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.50T>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359650;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359650;SAVANT_GENE=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;SAVANT_INFO=-/18.4kb/9/1.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.49+26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGLYRP4+c.49+26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153320334">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,36:77:99:1093,0,1158:127	1|1:0,86:86:99:3195,258,0:127	0|0:94,0:94:99:0,282,3107:127
1	153320372	.	T	G	11792.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3006458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3006458" target="_blank">rs3006458</a>;ExAC.Info.AC=104253;ExAC.Info.AN=126694;ExAC.Info.AF=0.823;ExAC.Info.AC_Het=18021;ExAC.Info.AC_Hom=42817;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37T>G;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359650;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37T>G;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359650;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Ctc;snpeff.Amino_Acid_Change=p.Ile13Leu/c.37A>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359650;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359650;SAVANT_GENE=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;SAVANT_INFO=-/18.4kb/9/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.37A>C_p.Ile13Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGLYRP4+c.37A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153320372">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,41:95:99:1114,0,1385:127	1|1:0,110:110:99:3939,331,0:127	0|0:101,0:101:99:0,303,3206:127
1	153320401	.	G	A	8428.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12096209;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12096209" target="_blank">rs12096209</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Crohn's_disease|_increased_risk;hgmd_2014.2.OMIM_ID=608198;hgmd_2014.2.PubMed=23840689;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23840689" target="_blank">23840689</a>;ExAC.Info.AC=7528;ExAC.Info.AN=126698;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=6823;ExAC.Info.AC_Hom=337;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8G>A;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359650;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8G>A;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359650;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro3Leu/c.8C>T;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359650;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359650;SAVANT_GENE=PGLYRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGLYRP4" target="_blank">PGLYRP4</a>;SAVANT_INFO=-/18.4kb/9/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.8C>T_p.Pro3Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGLYRP4+c.8C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153320401">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,50:85:99:1462,0,959:127	0|0:115,0:115:99:0,345,3754:127	1|0:40,61:101:99:1787,0,1057:127
1	153430249	.	TG	T	14298.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs35971850;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35971850" target="_blank">rs35971850</a>;ExAC.Info.AC=34396;ExAC.Info.AN=126686;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=23668;ExAC.Info.AC_Hom=5341;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=32;snpeff.Amino_Acid_Change=c.*32delC;snpeff.Amino_Acid_length=101;snpeff.Gene_Name=S100A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A7" target="_blank">S100A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368723;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368723;SAVANT_GENE=S100A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A7" target="_blank">S100A7</a>;SAVANT_INFO=-/3.0kb/3/0.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*32delC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=S100A7+c.*32delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153430249">View</a>	GT:AD:DP:GQ:PL:TP	0/1:83,71:154:99:1952,0,2302:127	0/1:88,78:166:99:2179,0,2458:127	0/1:70,66:136:99:1823,0,1935:127
1	153431561	.	T	C	3586.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=487;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12132927;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12132927" target="_blank">rs12132927</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-17-55A>G;snpeff.Amino_Acid_length=101;snpeff.Gene_Name=S100A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A7" target="_blank">S100A7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368723;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368723;SAVANT_GENE=S100A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A7" target="_blank">S100A7</a>;SAVANT_INFO=-/3.0kb/3/0.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-72A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=S100A7+c.-72A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153431561">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4555:127	0|0:191,0:191:99:0,573,6291:127	0|1:94,65:159:99:1812,0,2561:127
1	153509890	.	T	C	4497.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795393" target="_blank">rs3795393</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=11482;ExAC.Info.AN=126704;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=10029;ExAC.Info.AC_Hom=727;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp72Gly/c.215A>G;snpeff.Amino_Acid_length=110;snpeff.Gene_Name=S100A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A5" target="_blank">S100A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368718;SAVANT_GENE=S100A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A5" target="_blank">S100A5</a>;SAVANT_INFO=-/4.6kb/4/0.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.161A>G_p.Asp54Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=S100A5+c.161A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153509890">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,31:59:99:815,0,727:127	0|0:81,0:81:99:0,243,2611:127	1|0:37,26:63:99:725,0,1103:127
1	153588279	.	G	A	5554.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9792967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9792967" target="_blank">rs9792967</a>;ExAC.Info.AC=60584;ExAC.Info.AN=126654;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=28849;ExAC.Info.AC_Hom=15575;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.30+26C>T;snpeff.Amino_Acid_length=104;snpeff.Gene_Name=S100A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A14" target="_blank">S100A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344616;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.31G>A;snpeff.Amino_Acid_length=104;snpeff.Gene_Name=S100A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A14" target="_blank">S100A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344616;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.31G>A;snpeff.Amino_Acid_length=104;snpeff.Gene_Name=S100A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A14" target="_blank">S100A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344616;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368702;SAVANT_GENE=S100A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A14" target="_blank">S100A14</a>;SAVANT_INFO=-/2.7kb/5/1.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.30+26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=S100A14+c.30+26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153588279">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,24:49:99:629,0,789:127	0/1:16,21:37:99:602,0,529:127	0/1:31,27:58:99:867,0,996:127
1	153588340	.	C	T	7577.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11548103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11548103" target="_blank">rs11548103</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Esophageal_cancer|_risk|_association_with;hgmd_2014.2.PubMed=19351828;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19351828" target="_blank">19351828</a>;ExAC.Info.AC=51919;ExAC.Info.AN=126654;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=29104;ExAC.Info.AC_Hom=11231;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=6;snpeff.Amino_Acid_Change=c.-6G>A;snpeff.Amino_Acid_length=104;snpeff.Gene_Name=S100A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A14" target="_blank">S100A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344616;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368702;SAVANT_GENE=S100A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A14" target="_blank">S100A14</a>;SAVANT_INFO=-/2.7kb/5/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-6G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=S100A14+c.-6G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153588340">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,40:77:99:1087,0,1044:127	0/1:39,27:66:99:762,0,1212:127	0/1:41,44:85:99:1271,0,1096:127
1	153604029	.	C	T	3058.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1046379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1046379" target="_blank">rs1046379</a>;ExAC.Info.AC=98588;ExAC.Info.AN=126508;ExAC.Info.AF=0.779;ExAC.Info.AC_Het=20560;ExAC.Info.AC_Hom=38791;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP1-178F15.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-178F154" target="_blank">RP1-178F154</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=S100A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-178F154" target="_blank">RP1-178F154</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.368-475G>A;snpeff.Gene_Name=RP1-178F15.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-178F154" target="_blank">RP1-178F154</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000497086;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.301-145C>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=S100A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-178F154" target="_blank">RP1-178F154</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368698;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000292169;SAVANT_GENE=S100A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A1" target="_blank">S100A1</a>;SAVANT_INFO=+/3.6kb/3/0.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.142-145C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=S100A1+c.142-145C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153604029">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2836:127	0|1:56,55:111:99:1548,0,1765:127	0|0:95,0:95:99:0,286,3545:127
1	153604112	.	G	A	2492.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1046381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1046381" target="_blank">rs1046381</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP1-178F15.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-178F154" target="_blank">RP1-178F154</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=S100A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-178F154" target="_blank">RP1-178F154</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.367+398C>T;snpeff.Gene_Name=RP1-178F15.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-178F154" target="_blank">RP1-178F154</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000497086;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.301-62G>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=S100A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-178F154" target="_blank">RP1-178F154</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368698;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000292169;SAVANT_GENE=S100A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=S100A1" target="_blank">S100A1</a>;SAVANT_INFO=+/3.6kb/3/0.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.142-62G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=S100A1+c.142-62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153604112">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2692:127	0|1:45,45:90:99:1265,0,1477:127	0|0:60,0:60:99:0,180,2356:127
1	153609039	.	T	C	3072.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4845557;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845557" target="_blank">rs4845557</a>;ExAC.Info.AC=75270;ExAC.Info.AN=126696;ExAC.Info.AF=0.594;ExAC.Info.AC_Het=29445;ExAC.Info.AC_Hom=22839;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-17-9T>C;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=CHTOP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHTOP" target="_blank">CHTOP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368694;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368694;SAVANT_GENE=CHTOP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHTOP" target="_blank">CHTOP</a>;SAVANT_INFO=+/12.3kb/6/2.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHTOP+c.-26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153609039">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2017:127	0|1:35,49:84:99:1555,0,972:127	0|0:79,0:79:99:0,237,2652:127
1	153636860	.	A	G	4396.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4351684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4351684" target="_blank">rs4351684</a>;ExAC.Info.AC=75077;ExAC.Info.AN=126702;ExAC.Info.AF=0.593;ExAC.Info.AC_Het=29439;ExAC.Info.AC_Hom=22797;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.656+12T>C;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.657A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.657A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.657A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.657A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.657A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.657A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.657A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.657A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.657A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361891;SAVANT_GENE=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;SAVANT_INFO=-/9.0kb/14/1.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.656+12T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ILF2+c.656+12T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153636860">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,312,3516:127	0|1:59,76:135:99:2217,0,1548:127	0|0:140,0:140:99:0,421,4777:127
1	153637617	.	G	A	1066.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3862047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3862047" target="_blank">rs3862047</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.577+79C>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.578G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.578G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.578G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.578G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.578G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.578G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.578G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.578G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DZF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.578G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361891;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361891;SAVANT_GENE=ILF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILF2" target="_blank">ILF2</a>;SAVANT_INFO=-/9.0kb/14/1.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.577+79C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ILF2+c.577+79C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153637617">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1259:80	0|1:9,19:28:99:552,0,290:80	0|0:27,0:27:81:0,81,1062:80
1	153661374	.	CG	C	1467.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34402066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34402066" target="_blank">rs34402066</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2418-54delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2418delG;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368680;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368680;SAVANT_GENE=NPR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR1" target="_blank">NPR1</a>;SAVANT_INFO=+/15.4kb/22/4.2kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2418-53delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPR1+c.2418-53delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153661374">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,1047:83	0|1:23,24:47:99:757,0,717:83	0|0:39,0:39:99:0,117,1458:83
1	153743234	.	T	C	12291.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6675978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6675978" target="_blank">rs6675978</a>;ExAC.Info.AC=56031;ExAC.Info.AN=126692;ExAC.Info.AF=0.442;ExAC.Info.AC_Het=29771;ExAC.Info.AC_Hom=12830;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2552+25T>C;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=INTS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INTS3" target="_blank">INTS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318967;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318967;SAVANT_GENE=INTS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INTS3" target="_blank">INTS3</a>;SAVANT_INFO=+/46.0kb/30/4.5kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.2552+25T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INTS3+c.2552+25T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153743234">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1613,153,0:116	1|0:46,34:80:99:947,0,1247:116	1|1:0,39:39:99:1445,117,0:116
1	153743289	.	C	G	10003.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12068256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12068256" target="_blank">rs12068256</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2552+80C>G;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=INTS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INTS3" target="_blank">INTS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318967;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318967;SAVANT_GENE=INTS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INTS3" target="_blank">INTS3</a>;SAVANT_INFO=+/46.0kb/30/4.5kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.2552+80C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INTS3+c.2552+80C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153743289">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1522,144,0:127	1|0:50,39:89:99:953,0,1313:127	1|0:26,17:43:99:469,0,749:127
1	153750207	.	C	CCTT	13576.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs139720425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139720425" target="_blank">rs139720425</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1421-29_1421-28insCTT;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=SLC27A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC27A3" target="_blank">SLC27A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271857;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368661;SAVANT_GENE=SLC27A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC27A3" target="_blank">SLC27A3</a>;SAVANT_INFO=+/4.9kb/10/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1178-29_1178-28insTTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC27A3+c.1178-29_1178-28insTTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153750207">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,49:86:99:2067,0,1972:127	0/1:73,53:126:99:2214,0,3801:127	0/1:60,44:104:99:1790,0,3153:127
1	153750214	.	TC	T	14352.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs374974027;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374974027" target="_blank">rs374974027</a>;ExAC.Info.AC=39091;ExAC.Info.AN=126070;ExAC.Info.AF=0.310;ExAC.Info.AC_Het=21081;ExAC.Info.AC_Hom=6764;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1421-22delC;snpeff.Amino_Acid_length=811;snpeff.Gene_Name=SLC27A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC27A3" target="_blank">SLC27A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271857;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368661;SAVANT_GENE=SLC27A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC27A3" target="_blank">SLC27A3</a>;SAVANT_INFO=+/4.9kb/10/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1178-17delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC27A3+c.1178-17delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153750214">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,58:100:99:2194,0,2000:127	0/1:84,66:150:99:2367,0,3966:127	0/1:60,49:109:99:1855,0,3170:127
1	153784666	.	CT	C	821.82	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=42;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Mental_retardation|_autosomal_dominant_18|_615074_(3);dbSNP139.ID=rs11264420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264420" target="_blank">rs11264420</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1420-59delA;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=GATAD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATAD2B" target="_blank">GATAD2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368655;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:CR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420delT;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=GATAD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATAD2B" target="_blank">GATAD2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368655;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:CR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420delT;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=GATAD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATAD2B" target="_blank">GATAD2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368655;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:CR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420delT;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=GATAD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATAD2B" target="_blank">GATAD2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368655;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420delT;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=GATAD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATAD2B" target="_blank">GATAD2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368655;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1420delT;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=GATAD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATAD2B" target="_blank">GATAD2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368655;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368655;SAVANT_GENE=GATAD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATAD2B" target="_blank">GATAD2B</a>;SAVANT_INFO=-/118.3kb/11/7.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1420-59delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GATAD2B+c.1420-59delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153784666">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,6:9:37:73,0,37:4	0/1:4,19:23:18:261,0,18:4	0/1:7,3:10:2:2,0,98:4
1	153790495	.	A	T	1936.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Mental_retardation|_autosomal_dominant_18|_615074_(3);dbSNP139.ID=rs72694221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72694221" target="_blank">rs72694221</a>;ExAC.Info.AC=3;ExAC.Info.AN=126688;ExAC.Info.AF=2.368e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.729+21T>A;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=GATAD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATAD2B" target="_blank">GATAD2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368655;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368655;SAVANT_GENE=GATAD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATAD2B" target="_blank">GATAD2B</a>;SAVANT_INFO=-/118.3kb/11/7.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.729+21T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GATAD2B+c.729+21T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153790495">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,6:16:99:266,0,562:81	0|0:26,0:26:81:0,81,1578:81	1|0:16,8:24:99:345,0,863:81
1	153790501	.	C	T	1892.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=73;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Mental_retardation|_autosomal_dominant_18|_615074_(3);dbSNP139.ID=rs4363451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4363451" target="_blank">rs4363451</a>;ExAC.Info.AC=40186;ExAC.Info.AN=126670;ExAC.Info.AF=0.317;ExAC.Info.AC_Het=26357;ExAC.Info.AC_Hom=6685;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.729+15G>A;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=GATAD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATAD2B" target="_blank">GATAD2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368655;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368655;SAVANT_GENE=GATAD2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATAD2B" target="_blank">GATAD2B</a>;SAVANT_INFO=-/118.3kb/11/7.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.729+15G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GATAD2B+c.729+15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153790501">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,7:19:99:241,0,587:84	0|0:28,0:28:84:0,84,1602:84	1|0:16,10:26:99:345,0,863:84
1	153909069	.	G	C	2849.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1043608;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1043608" target="_blank">rs1043608</a>;ExAC.Info.AC=39339;ExAC.Info.AN=125382;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=25649;ExAC.Info.AC_Hom=6061;snpeff.Effect=sequence_feature[repeat:PPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>C;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcG;snpeff.Amino_Acid_Change=p.Ala796Ala/c.2388C>G;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361217;SAVANT_GENE=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;SAVANT_INFO=-/17.2kb/28/5.7kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2388C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND4B+c.2388C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153909069">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,15:39:99:428,0,725:127	0|0:44,0:44:99:0,132,1650:127	1|0:10,14:24:99:453,0,351:127
1	153913684	.	C	A	364.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=58;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2297895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297895" target="_blank">rs2297895</a>;ExAC.Info.AC=18063;ExAC.Info.AN=125578;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=13745;ExAC.Info.AC_Hom=2019;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1181+23G>T;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182C>A;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182C>A;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182C>A;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182C>A;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182C>A;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361217;SAVANT_GENE=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;SAVANT_INFO=-/17.2kb/28/5.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1181+23G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND4B+c.1181+23G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153913684">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,1094:47	0|1:10,7:17:99:201,0,363:47	0|0:15,0:15:48:0,48,674:47
1	153913699	.	T	G	1809.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1110165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1110165" target="_blank">rs1110165</a>;ExAC.Info.AC=39708;ExAC.Info.AN=125386;ExAC.Info.AF=0.317;ExAC.Info.AC_Het=26344;ExAC.Info.AC_Hom=6468;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1181+8A>C;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182T>G;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182T>G;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182T>G;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182T>G;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182T>G;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182A>C;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361217;SAVANT_GENE=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;SAVANT_INFO=-/17.2kb/28/5.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1181+8A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND4B+c.1181+8A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153913699">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,19:33:99:565,0,362:69	0|0:23,0:23:69:0,69,897:69	1|0:11,11:22:99:258,0,344:69
1	153913770	.	A	G	3864.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2252508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2252508" target="_blank">rs2252508</a>;ExAC.Info.AC=72367;ExAC.Info.AN=125130;ExAC.Info.AF=0.578;ExAC.Info.AC_Het=27999;ExAC.Info.AC_Hom=21999;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1123-5T>C;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123A>G;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123A>G;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123A>G;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123A>G;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123A>G;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=1496;snpeff.Gene_Name=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361217;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361217;SAVANT_GENE=DENND4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND4B" target="_blank">DENND4B</a>;SAVANT_INFO=-/17.2kb/28/5.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1123-5T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND4B+c.1123-5T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153913770">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,19:38:99:504,0,528:127	0/1:21,21:42:99:545,0,612:127	0/1:23,13:36:99:416,0,706:127
1	153926078	.	T	C	1103.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11264680;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264680" target="_blank">rs11264680</a>;ExAC.Info.AC=40045;ExAC.Info.AN=126694;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=26645;ExAC.Info.AC_Hom=6547;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met147Val/c.439A>G;snpeff.Amino_Acid_length=693;snpeff.Gene_Name=CRTC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRTC2" target="_blank">CRTC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368633;SAVANT_GENE=CRTC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRTC2" target="_blank">CRTC2</a>;SAVANT_INFO=-/11.0kb/14/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.439A>G_p.Met147Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRTC2+c.439A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153926078">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,2:13:30:30,0,312:29	0|0:17,0:17:51:0,51,568:29	1|0:9,6:15:99:195,0,267:29
1	153941514	.	C	T	5262.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=D|P|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11264743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264743" target="_blank">rs11264743</a>;ExAC.Info.AC=38949;ExAC.Info.AN=126704;ExAC.Info.AF=0.307;ExAC.Info.AC_Het=26316;ExAC.Info.AC_Hom=6313;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=CREB3L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L4" target="_blank">CREB3L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368603;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=CREB3L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L4" target="_blank">CREB3L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368603;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=CREB3L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L4" target="_blank">CREB3L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368603;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=CREB3L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L4" target="_blank">CREB3L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368603;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=CREB3L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L4" target="_blank">CREB3L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368603;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=CREB3L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L4" target="_blank">CREB3L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368603;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=CREB3L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L4" target="_blank">CREB3L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368603;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro95Ser/c.283C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=CREB3L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L4" target="_blank">CREB3L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368603;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368607;SAVANT_GENE=CREB3L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L4" target="_blank">CREB3L4</a>;SAVANT_INFO=+/6.5kb/10/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.283C>T_p.Pro95Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CREB3L4+c.283C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153941514">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,41:68:99:1062,0,727:127	0|0:58,0:58:99:0,174,2303:127	1|0:49,43:92:99:1240,0,1619:127
1	153954674	.	T	C	3476.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10908578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10908578" target="_blank">rs10908578</a>;ExAC.Info.AC=72588;ExAC.Info.AN=126704;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=28783;ExAC.Info.AC_Hom=21897;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.535-22A>G;snpeff.Amino_Acid_length=203;snpeff.Gene_Name=RAB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB13" target="_blank">RAB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368575;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368575;SAVANT_GENE=RAB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB13" target="_blank">RAB13</a>;SAVANT_INFO=-/4.7kb/8/1.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.535-22A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAB13+c.535-22A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153954674">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,18:45:99:439,0,767:127	0/1:25,22:47:99:485,0,663:127	0/1:19,19:38:99:428,0,507:127
1	153964396	.	C	CAA	18856.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs34521811;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34521811" target="_blank">rs34521811</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.227-144_227-143insAA;snpeff.Amino_Acid_length=84;snpeff.Gene_Name=RPS27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS27" target="_blank">RPS27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368567;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368567;SAVANT_GENE=RPS27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS27" target="_blank">RPS27</a>;SAVANT_INFO=+/1.4kb/4/0.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.227-144_227-143insAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS27+c.227-144_227-143insAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153964396">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,53:121:99:2173,0,2753:127	0/1:87,88:175:99:3493,0,3420:127	0/1:83,59:142:99:2211,0,3400:127
1	153994647	.	C	T	2977.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11264875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264875" target="_blank">rs11264875</a>;ExAC.Info.AC=38562;ExAC.Info.AN=125400;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=26144;ExAC.Info.AC_Hom=6200;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val1491Ile/c.4471G>A;snpeff.Amino_Acid_length=1888;snpeff.Gene_Name=NUP210L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP210L" target="_blank">NUP210L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368559;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368559;SAVANT_GENE=NUP210L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP210L" target="_blank">NUP210L</a>;SAVANT_INFO=-/162.4kb/40/5.9kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.4471G>A_p.Val1491Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUP210L+c.4471G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:153994647">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,21:41:99:510,0,578:127	0|0:65,0:65:99:0,195,2461:127	1|0:27,18:45:99:533,0,922:127
1	154061855	.	T	G	14082.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2066135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066135" target="_blank">rs2066135</a>;ExAC.Info.AC=125076;ExAC.Info.AN=125078;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=62046;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2361+42A>C;snpeff.Amino_Acid_length=1888;snpeff.Gene_Name=NUP210L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP210L" target="_blank">NUP210L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368559;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368559;SAVANT_GENE=NUP210L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP210L" target="_blank">NUP210L</a>;SAVANT_INFO=-/162.4kb/40/5.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2361+42A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUP210L+c.2361+42A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154061855">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1700,162,0:127	1|1:0,67:67:99:2458,201,0:127	1|1:0,53:53:99:1792,159,0:127
1	154108387	.	G	A	36644.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3001361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3001361" target="_blank">rs3001361</a>;ExAC.Info.AC=124093;ExAC.Info.AN=125146;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=955;ExAC.Info.AC_Hom=61548;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn304Asn/c.912C>T;snpeff.Amino_Acid_length=1888;snpeff.Gene_Name=NUP210L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP210L" target="_blank">NUP210L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368559;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[glycosylation_site:N-linked__GlcNAc..._];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.912G>A;snpeff.Amino_Acid_length=1888;snpeff.Gene_Name=NUP210L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP210L" target="_blank">NUP210L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368559;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368559;SAVANT_GENE=NUP210L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP210L" target="_blank">NUP210L</a>;SAVANT_INFO=-/162.4kb/40/5.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.912C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUP210L+c.912C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154108387">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,130:130:99:4343,390,0:127	1|1:0,178:178:99:6303,535,0:127	1|1:0,144:144:99:5080,433,0:127
1	154110733	.	GA	G	3762.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11318139;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11318139" target="_blank">rs11318139</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.718-20delT;snpeff.Amino_Acid_length=1888;snpeff.Gene_Name=NUP210L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP210L" target="_blank">NUP210L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368559;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368559;SAVANT_GENE=NUP210L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP210L" target="_blank">NUP210L</a>;SAVANT_INFO=-/162.4kb/40/5.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.718-20delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUP210L+c.718-20delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154110733">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,45:82:99:963,0,789:101	0|0:87,7:94:99:0,101,2214:101	1|0:42,36:78:99:733,0,948:101
1	154141908	.	A	G	17611.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=595;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Nemaline_myopathy_1|_autosomal_dominant_or_recessive|_609284_(3)|_CAP_myopathy_1|_609284_(3)|_Myopathy_congenital|_with_fiber-type_disproportion|_255310_(3);dbSNP139.ID=rs4845364;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845364" target="_blank">rs4845364</a>;ExAC.Info.AC=76720;ExAC.Info.AN=126690;ExAC.Info.AF=0.606;ExAC.Info.AC_Het=28239;ExAC.Info.AC_Hom=24039;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.775+968T>C;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=TPM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPM3" target="_blank">TPM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271850;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368530;SAVANT_GENE=TPM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPM3" target="_blank">TPM3</a>;SAVANT_INFO=-/24.7kb/10/1.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.776-49T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPM3+c.776-49T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154141908">View</a>	GT:AD:DP:GQ:PL:TP	0/1:96,89:185:99:2600,0,2759:127	0/1:119,106:225:99:2926,0,3532:127	0/1:95,90:185:99:2629,0,2802:127
1	154144681	.	A	T	8233.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=738;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Nemaline_myopathy_1|_autosomal_dominant_or_recessive|_609284_(3)|_CAP_myopathy_1|_609284_(3)|_Myopathy_congenital|_with_fiber-type_disproportion|_255310_(3);dbSNP139.ID=rs34335016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34335016" target="_blank">rs34335016</a>;ExAC.Info.AC=15281;ExAC.Info.AN=126554;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=12390;ExAC.Info.AC_Hom=1331;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.567-101T>A;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=TPM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPM3" target="_blank">TPM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271850;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368530;SAVANT_GENE=TPM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPM3" target="_blank">TPM3</a>;SAVANT_INFO=-/24.7kb/10/1.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.566+703T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPM3+c.566+703T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154144681">View</a>	GT:AD:DP:GQ:PL:TP	0|0:227,1:228:99:0,649,7623:127	0|1:123,140:263:99:4046,0,3544:127	0|0:247,0:247:99:0,743,8689:127
1	154145532	.	C	G	7075.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=948;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Nemaline_myopathy_1|_autosomal_dominant_or_recessive|_609284_(3)|_CAP_myopathy_1|_609284_(3)|_Myopathy_congenital|_with_fiber-type_disproportion|_255310_(3);dbSNP139.ID=rs28372838;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28372838" target="_blank">rs28372838</a>;ExAC.Info.AC=17626;ExAC.Info.AN=126704;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=14357;ExAC.Info.AC_Hom=1647;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.495+28G>C;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=TPM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPM3" target="_blank">TPM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271850;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368530;SAVANT_GENE=TPM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPM3" target="_blank">TPM3</a>;SAVANT_INFO=-/24.7kb/10/1.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.495+28G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPM3+c.495+28G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154145532">View</a>	GT:AD:DP:GQ:PL:TP	0|0:347,0:347:99:0,1043,11697:127	0|1:191,120:311:99:3467,0,5844:127	0|0:290,0:290:99:0,871,9830:127
1	154186918	.	G	C	4260.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12408458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12408458" target="_blank">rs12408458</a>;ExAC.Info.AC=49208;ExAC.Info.AN=126696;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=28605;ExAC.Info.AC_Hom=10280;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.286+15C>G;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=C1orf43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf43" target="_blank">C1orf43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368521;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368521;SAVANT_GENE=C1orf43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf43" target="_blank">C1orf43</a>;SAVANT_INFO=-/13.9kb/7/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.286+15C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf43+c.286+15C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154186918">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,24:76:99:638,0,1503:127	0|0:111,0:111:99:0,333,3864:127	1|0:43,25:68:99:599,0,1337:127
1	154207635	.	G	T	1302.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12023901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12023901" target="_blank">rs12023901</a>;ExAC.Info.AC=10711;ExAC.Info.AN=123314;ExAC.Info.AF=0.087;ExAC.Info.AC_Het=4310;ExAC.Info.AC_Hom=346;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.449-37G>T;snpeff.Amino_Acid_length=1087;snpeff.Gene_Name=UBAP2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBAP2L" target="_blank">UBAP2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428931;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428931;SAVANT_GENE=UBAP2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBAP2L" target="_blank">UBAP2L</a>;SAVANT_INFO=+/50.0kb/27/4.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.449-37G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBAP2L+c.449-37G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154207635">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1826:86	0|1:26,25:51:99:670,0,803:86	0|0:29,0:29:87:0,87,1132:86
1	154209490	.	T	C	4636.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2274993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274993" target="_blank">rs2274993</a>;ExAC.Info.AC=15945;ExAC.Info.AN=126690;ExAC.Info.AF=0.126;ExAC.Info.AC_Het=12582;ExAC.Info.AC_Hom=1646;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.591-10T>C;snpeff.Amino_Acid_length=1087;snpeff.Gene_Name=UBAP2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBAP2L" target="_blank">UBAP2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428931;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428931;SAVANT_GENE=UBAP2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBAP2L" target="_blank">UBAP2L</a>;SAVANT_INFO=+/50.0kb/27/4.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.591-10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBAP2L+c.591-10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154209490">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,355,3955:127	0|1:67,70:137:99:2337,0,1993:127	0|0:158,0:158:99:0,475,5611:127
1	154227292	.	G	GT	1655.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11412846;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11412846" target="_blank">rs11412846</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1855-19_1855-18insT;snpeff.Amino_Acid_length=1087;snpeff.Gene_Name=UBAP2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBAP2L" target="_blank">UBAP2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428931;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000428931;SAVANT_GENE=UBAP2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBAP2L" target="_blank">UBAP2L</a>;SAVANT_INFO=+/50.0kb/27/4.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1855-6dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBAP2L+c.1855-6dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154227292">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,17:45:99:272,0,475:127	0/1:29,21:50:99:221,0,582:127	0/1:29,22:51:99:248,0,525:127
1	154228287	.	T	C	10856.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1194603;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1194603" target="_blank">rs1194603</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2157+56T>C;snpeff.Amino_Acid_length=1087;snpeff.Gene_Name=UBAP2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBAP2L" target="_blank">UBAP2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428931;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428931;SAVANT_GENE=UBAP2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBAP2L" target="_blank">UBAP2L</a>;SAVANT_INFO=+/50.0kb/27/4.0kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2157+56T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBAP2L+c.2157+56T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154228287">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,50:86:99:1245,0,1091:127	0/1:66,60:126:99:1637,0,2001:127	0/1:63,64:127:99:1716,0,1826:127
1	154245142	.	T	G	6137.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Neutropenia|_severe_congenital_3|_autosomal_recessive|_610738_(3);dbSNP139.ID=rs11265425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11265425" target="_blank">rs11265425</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=58;snpeff.Amino_Acid_Change=c.-58T>G;snpeff.Amino_Acid_length=287;snpeff.Gene_Name=HAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAX1" target="_blank">HAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000483970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=287;snpeff.Gene_Name=HAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAX1" target="_blank">HAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000483970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328703;SAVANT_GENE=HAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAX1" target="_blank">HAX1</a>;SAVANT_INFO=+/3.4kb/7/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-58T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HAX1+c.-58T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154245142">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,25:53:99:702,0,708:127	1|1:0,53:53:99:1919,159,0:127	0|0:45,0:45:99:0,135,1509:127
1	154285078	.	T	G	1268.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11581043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11581043" target="_blank">rs11581043</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11581043" target="_blank">rs11581043</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154285078">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,960:84	0|1:12,10:22:99:313,0,331:84	0|1:9,11:20:99:341,0,233:84
1	154293675	.	G	A	2184.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=146;MQ=69.85;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6668968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6668968" target="_blank">rs6668968</a>;ExAC.Info.AC=37110;ExAC.Info.AN=126702;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=25784;ExAC.Info.AC_Hom=5635;snpeff.Effect=TF_binding_site_variant[MA0036.1:Gata2];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.44G>A;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=AQP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP10" target="_blank">AQP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324978;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg15Gln/c.44G>A;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=AQP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP10" target="_blank">AQP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324978;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324978;SAVANT_GENE=AQP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP10" target="_blank">AQP10</a>;SAVANT_INFO=+/4.2kb/6/1.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.44G>A_p.Arg15Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AQP10+c.44G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154293675">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1567:104	0|1:31,36:67:99:1111,0,897:104	0|0:35,0:35:99:0,105,1276:104
1	154294560	.	C	T	1935.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=255;MQ=69.52;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41308403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41308403" target="_blank">rs41308403</a>;ExAC.Info.AC=6313;ExAC.Info.AN=126694;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=5803;ExAC.Info.AC_Hom=209;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.232+25C>T;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=AQP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP10" target="_blank">AQP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324978;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.233C>T;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=AQP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP10" target="_blank">AQP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324978;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.233C>T;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=AQP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP10" target="_blank">AQP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324978;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324978;SAVANT_GENE=AQP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP10" target="_blank">AQP10</a>;SAVANT_INFO=+/4.2kb/6/1.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.232+25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AQP10+c.232+25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154294560">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,281,3043:127	0|0:84,0:84:99:0,252,2948:127	0|1:39,38:77:99:987,0,1216:127
1	154295592	.	C	T	3516.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6685323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6685323" target="_blank">rs6685323</a>;ExAC.Info.AC=37772;ExAC.Info.AN=126704;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=26050;ExAC.Info.AC_Hom=5859;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.367C>T;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=AQP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP10" target="_blank">AQP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324978;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.367C>T;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=AQP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP10" target="_blank">AQP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324978;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cat/Tat;snpeff.Amino_Acid_Change=p.His123Tyr/c.367C>T;snpeff.Amino_Acid_length=301;snpeff.Gene_Name=AQP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP10" target="_blank">AQP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324978;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324978;SAVANT_GENE=AQP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP10" target="_blank">AQP10</a>;SAVANT_INFO=+/4.2kb/6/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.367C>T_p.His123Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AQP10+c.367C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154295592">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,0:111:99:0,334,3918:127	0|1:63,70:133:99:1777,0,1694:127	0|0:124,0:124:99:0,373,4570:127
1	154303976	.	T	C	1598.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6702754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702754" target="_blank">rs6702754</a>;ExAC.Info.AC=37703;ExAC.Info.AN=126704;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=26042;ExAC.Info.AC_Hom=5828;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn153Asn/c.459T>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368489;SAVANT_GENE=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;SAVANT_INFO=+/23.5kb/28/5.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.459T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP8B2+c.459T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154303976">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1372:125	0|1:30,30:60:99:818,0,788:125	0|0:53,0:53:99:0,159,1873:125
1	154305190	.	G	C	3472.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12077870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12077870" target="_blank">rs12077870</a>;ExAC.Info.AC=28816;ExAC.Info.AN=118592;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=8806;ExAC.Info.AC_Hom=1996;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.688+17G>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689G>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689G>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689G>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689G>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689G>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689G>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689G>C;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368489;SAVANT_GENE=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;SAVANT_INFO=+/23.5kb/28/5.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.688+17G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP8B2+c.688+17G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154305190">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,300,3494:127	0|1:56,59:115:99:1755,0,1469:127	0|0:91,0:91:99:0,273,3268:127
1	154310048	.	C	G	15018.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1760795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1760795" target="_blank">rs1760795</a>;ExAC.Info.AC=59269;ExAC.Info.AN=126704;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=30355;ExAC.Info.AC_Hom=14457;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1133+28C>G;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134C>G;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134C>G;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368489;SAVANT_GENE=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;SAVANT_INFO=+/23.5kb/28/5.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1133+28C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP8B2+c.1133+28C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154310048">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:3224,276,0:127	1|0:44,49:93:99:1514,0,1389:127	1|0:44,36:80:99:1124,0,1426:127
1	154316434	.	C	T	2900.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2274988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274988" target="_blank">rs2274988</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=26830;ExAC.Info.AN=126700;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20366;ExAC.Info.AC_Hom=3209;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr641Tyr/c.1923C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368489;SAVANT_GENE=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;SAVANT_INFO=+/23.5kb/28/5.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.1923C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP8B2+c.1923C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154316434">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,137,1621:127	0|1:33,30:63:99:971,0,991:127	0|1:27,18:45:99:499,0,869:127
1	154317153	.	C	T	12987.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1194587;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1194587" target="_blank">rs1194587</a>;ExAC.Info.AC=58802;ExAC.Info.AN=126704;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=30132;ExAC.Info.AC_Hom=14318;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser759Ser/c.2277C>T;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368489;SAVANT_GENE=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;SAVANT_INFO=+/23.5kb/28/5.9kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2277C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP8B2+c.2277C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154317153">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2962,264,0:127	1|0:42,46:88:99:1197,0,1114:127	1|0:46,44:90:99:1194,0,1303:127
1	154320942	.	A	G	2338.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2297607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297607" target="_blank">rs2297607</a>;ExAC.Info.AC=25301;ExAC.Info.AN=126704;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=19577;ExAC.Info.AC_Hom=2808;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3321A>G;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr1107Thr/c.3321A>G;snpeff.Amino_Acid_length=1223;snpeff.Gene_Name=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368489;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368489;SAVANT_GENE=ATP8B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP8B2" target="_blank">ATP8B2</a>;SAVANT_INFO=+/23.5kb/28/5.9kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3321A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP8B2+c.3321A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154320942">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2768:127	0|0:81,0:81:99:0,243,2924:127	0|1:42,38:80:99:1188,0,1239:127
1	154378009	.	G	C	431.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=15;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.126+906C>G;snpeff.Gene_Name=RP11-350G8.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424435;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=97;snpeff.Amino_Acid_Change=c.-97G>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-97G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.-97G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154378009">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,2:5:75:75,0,139:65	0/1:3,3:6:99:114,0,208:65	0/1:2,2:4:66:66,0,104:65
1	154378013	.	A	C	410.42	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=17;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.126+902T>G;snpeff.Gene_Name=RP11-350G8.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424435;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=93;snpeff.Amino_Acid_Change=c.-93A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-93A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.-93A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154378013">View</a>	GT:AD:DP:GQ:PL:TP	0/1:4,2:6:72:72,0,219:65	0/1:4,3:7:99:114,0,208:65	0/1:2,2:4:66:66,0,104:65
1	154378016	.	G	C	386.93	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=19;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.126+899C>G;snpeff.Gene_Name=RP11-350G8.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424435;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=90;snpeff.Amino_Acid_Change=c.-90G>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-90G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.-90G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154378016">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,2:7:63:63,0,431:59	0/1:4,3:7:99:114,0,208:59	0/1:3,2:5:63:63,0,190:59
1	154378021	.	G	C	327.85	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=24;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.126+894C>G;snpeff.Gene_Name=RP11-350G8.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424435;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=85;snpeff.Amino_Acid_Change=c.-85G>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-85G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.-85G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154378021">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,2:11:36:36,0,968:35	0/1:5,3:8:99:108,0,370:35	0/1:3,2:5:57:57,0,340:35
1	154378026	.	G	C	264.01	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=40;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.126+889C>G;snpeff.Gene_Name=RP11-350G8.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424435;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=80;snpeff.Amino_Acid_Change=c.-80G>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-80G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.-80G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154378026">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,2:19:33:33,0,1098:32	0/1:9,3:12:87:87,0,785:32	0/1:7,2:9:48:48,0,510:32
1	154378030	.	CTG	C	117.2	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=50;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.126+883_126+884delCA;snpeff.Gene_Name=RP11-350G8.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424435;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=74;snpeff.Amino_Acid_Change=c.-75_-76delTG;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-350G85" target="_blank">RP11-350G85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-75_-74delTG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.-75_-74delTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154378030">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,1:21:18:0,18,1295:4	0|1:16,3:19:78:78,0,894:4	0|1:9,1:10:3:3,0,560:4
1	154401679	.	G	A	7442.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);dbSNP139.ID=rs2228144;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228144" target="_blank">rs2228144</a>;ExAC.Info.AC=17839;ExAC.Info.AN=126700;ExAC.Info.AF=0.141;ExAC.Info.AC_Het=14989;ExAC.Info.AC_Hom=1411;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala31Ala/c.93G>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.93G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.93G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154401679">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,37:83:99:956,0,1159:127	0|0:96,0:96:99:0,288,3061:127	1|0:33,57:90:99:1700,0,874:127
1	154401972	.	T	C	19055.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);dbSNP139.ID=rs6694817;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6694817" target="_blank">rs6694817</a>;ExAC.Info.AC=70478;ExAC.Info.AN=126142;ExAC.Info.AF=0.559;ExAC.Info.AC_Het=28172;ExAC.Info.AC_Hom=18837;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.334+52T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.334+52T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.334+52T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154401972">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:2967,258,0:127	1|0:51,48:99:99:1328,0,1384:127	1|1:0,86:86:99:3042,258,0:127
1	154407419	.	A	C	8939.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);dbSNP139.ID=rs7518199;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7518199" target="_blank">rs7518199</a>;ExAC.Info.AC=48117;ExAC.Info.AN=126566;ExAC.Info.AF=0.380;ExAC.Info.AC_Het=27277;ExAC.Info.AC_Hom=9078;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.641-47A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.641-47A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.641-47A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154407419">View</a>	GT:AD:DP:GQ:PL:TP	0/1:66,31:97:99:867,0,1735:127	0/1:60,53:113:99:1497,0,1664:127	0/1:46,42:88:99:1299,0,1318:127
1	154409893	.	A	AT	4038.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=255;MQ=69.90;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);dbSNP139.ID=rs71586015;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71586015" target="_blank">rs71586015</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.949+1308_949+1309insT;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.950_951insT;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.950_951insT;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.950_951insT;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.950_951insT;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.950_951insT;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.950_951insT;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.950_951insT;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.950_951insT;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.950_951insT;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.949+1320dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.949+1320dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154409893">View</a>	GT:AD:DP:GQ:PL:TP	0/1:50,36:86:99:594,0,915:127	0/1:49,40:89:99:761,0,972:127	0/1:50,30:80:99:496,0,1024:127
1	154426947	.	T	A	9720.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=462;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);dbSNP139.ID=rs4845374;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845374" target="_blank">rs4845374</a>;ExAC.Info.AC=19723;ExAC.Info.AN=120190;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=15482;ExAC.Info.AC_Hom=1460;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1067-17T>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1067T>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1067T>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1067T>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1067T>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1067T>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1067T>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1067T>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1067T>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1067T>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1067-17T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.1067-17T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154426947">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,70:131:99:1964,0,2293:127	0|0:188,3:191:99:0,515,7183:127	1|0:62,78:140:99:2215,0,2362:127
1	154426970	.	A	C	18525.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=580;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2228145;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228145" target="_blank">rs2228145</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Increased_BMI|_association_with;hgmd_2014.2.OMIM_ID=147880;hgmd_2014.2.PubMed=14680981;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=14680981" target="_blank">14680981</a>;Clinvar.ClinicalSignificance=association;Clinvar.RCVaccession=RCV000015767|RCV000029243;Clinvar.PhenotypeIDs=MedGen:CN070041|OMIM:614689|MedGen:CN130638|OMIM:614752;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1073A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1073A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1073A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1073A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1073A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1073A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1073A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1073A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1073A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gCt;snpeff.Amino_Acid_Change=p.Asp358Ala/c.1073A>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1073A>C_p.Asp358Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.1073A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154426970">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015767%20OR%20RCV000029243" target="_blank">association</a> 	GT:AD:DP:GQ:PL:TP	0/1:101,73:174:99:2127,0,3493:127	0/1:118,116:234:99:3389,0,3188:127	0/1:98,74:172:99:2312,0,3519:127
1	154437896	.	T	C	38041.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=[Interleukin-6_receptor|_soluble|_serum_level_of|_QTL]|_614689_(3)|_[Interleukin_6|_serum_level_of|_QTL]|_614752_(3);dbSNP139.ID=rs2229238;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229238" target="_blank">rs2229238</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Increased_BMI|_association_with;hgmd_2014.2.OMIM_ID=147880;hgmd_2014.2.PubMed=14680981;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=14680981" target="_blank">14680981</a>;ExAC.Info.AC=100587;ExAC.Info.AN=126612;ExAC.Info.AF=0.794;ExAC.Info.AC_Het=19770;ExAC.Info.AC_Hom=39412;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=40;snpeff.Amino_Acid_Change=c.*40T>C;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368485;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368485;SAVANT_GENE=IL6R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL6R" target="_blank">IL6R</a>;SAVANT_INFO=+/64.3kb/10/5.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*40T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL6R+c.*40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154437896">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,144:144:99:5337,433,0:127	1|1:0,168:168:99:6181,505,0:127	1|1:0,140:140:99:5317,421,0:127
1	154442960	.	G	A	11845.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=277;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs11265621;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11265621" target="_blank">rs11265621</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SHE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHE" target="_blank">SHE</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHE" target="_blank">SHE</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SHE+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154442960">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,46:100:99:1356,0,1634:127	1|1:1,95:96:99:3364,248,0:127	0|1:48,33:81:99:903,0,1445:127
1	154459197	.	C	G	8135.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4845633;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845633" target="_blank">rs4845633</a>;ExAC.Info.AC=125320;ExAC.Info.AN=126696;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1226;ExAC.Info.AC_Hom=61857;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1025-38G>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=SHE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHE" target="_blank">SHE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304760;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304760;SAVANT_GENE=SHE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHE" target="_blank">SHE</a>;SAVANT_INFO=-/22.6kb/6/6.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1025-38G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SHE+c.1025-38G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154459197">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1072,93,0:89	1|1:0,30:30:90:1044,90,0:89	1|1:0,36:36:99:1271,108,0:89
1	154474131	.	C	G	12900.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs4845635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845635" target="_blank">rs4845635</a>;ExAC.Info.AC=104735;ExAC.Info.AN=126630;ExAC.Info.AF=0.827;ExAC.Info.AC_Het=17002;ExAC.Info.AC_Hom=43154;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgC;snpeff.Amino_Acid_Change=p.Arg124Arg/c.372G>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=SHE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHE" target="_blank">SHE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304760;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304760;SAVANT_GENE=SHE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHE" target="_blank">SHE</a>;SAVANT_INFO=-/22.6kb/6/6.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.372G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SHE+c.372G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154474131">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,37:84:99:1090,0,1460:127	1|1:1,94:95:99:3324,252,0:127	0|1:38,38:76:99:1101,0,1164:127
1	154492702	.	G	A	8268.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10908842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10908842" target="_blank">rs10908842</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.142-78G>A;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368480;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.142G>A;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368480;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.142G>A;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368480;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.142G>A;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368480;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368480;SAVANT_GENE=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;SAVANT_INFO=+/45.2kb/12/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.142-78G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD10+c.142-78G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154492702">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,17:39:99:473,0,761:127	1|1:0,72:72:99:2477,216,0:127	0|1:28,27:55:99:748,0,936:127
1	154514532	.	C	A	67.97	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=26;ExAC.Info.AN=126704;ExAC.Info.AF=2.052e-04;ExAC.Info.AC_Het=20;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly134Gly/c.402C>A;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368480;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368480;SAVANT_GENE=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;SAVANT_INFO=+/45.2kb/12/1.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.402C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD10+c.402C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154514532">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,5:28:8:8,0,662:7	0/1:31,6:37:37:37,0,1047:7	0/1:14,2:16:12:12,0,515:7
1	154516477	.	G	A	22590.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=603;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12750774;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12750774" target="_blank">rs12750774</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=29508;ExAC.Info.AN=126704;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=21265;ExAC.Info.AC_Hom=4121;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg181Gln/c.542G>A;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368480;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368480;SAVANT_GENE=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;SAVANT_INFO=+/45.2kb/12/1.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.542G>A_p.Arg181Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD10+c.542G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154516477">View</a>	GT:AD:DP:GQ:PL:TP	0|1:90,101:191:99:2732,0,2649:127	1|1:0,225:225:99:7756,676,0:127	0|0:187,0:187:99:0,561,6360:127
1	154516571	.	T	C	27632.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6678164;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6678164" target="_blank">rs6678164</a>;ExAC.Info.AC=123323;ExAC.Info.AN=126704;ExAC.Info.AF=0.973;ExAC.Info.AC_Het=2433;ExAC.Info.AC_Hom=60441;snpeff.Effect=sequence_feature[domain:Tudor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636T>C;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368480;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tudor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636T>C;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368480;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tudor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636T>C;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368480;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala212Ala/c.636T>C;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368480;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368480;SAVANT_GENE=TDRD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD10" target="_blank">TDRD10</a>;SAVANT_INFO=+/45.2kb/12/1.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.636T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD10+c.636T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154516571">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:3228,265,0:127	1|1:0,125:125:99:4581,376,0:127	1|1:0,84:84:99:3160,252,0:127
1	154524973	.	A	G	8566.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12144146;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12144146" target="_blank">rs12144146</a>;ExAC.Info.AC=29326;ExAC.Info.AN=126700;ExAC.Info.AF=0.231;ExAC.Info.AC_Het=21100;ExAC.Info.AC_Hom=4084;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.815-33T>C;snpeff.Amino_Acid_length=422;snpeff.Gene_Name=UBE2Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2Q1" target="_blank">UBE2Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292211;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000292211;SAVANT_GENE=UBE2Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2Q1" target="_blank">UBE2Q1</a>;SAVANT_INFO=-/10.1kb/13/3.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.815-33T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBE2Q1+c.815-33T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154524973">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,22:60:99:646,0,969:127	1|1:0,82:82:99:2789,246,0:127	0|0:52,0:52:99:0,156,1822:127
1	154528053	.	G	A	2362.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56047170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56047170" target="_blank">rs56047170</a>;ExAC.Info.AC=19943;ExAC.Info.AN=126696;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=16447;ExAC.Info.AC_Hom=1719;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.433-45C>T;snpeff.Amino_Acid_length=422;snpeff.Gene_Name=UBE2Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2Q1" target="_blank">UBE2Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292211;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000292211;SAVANT_GENE=UBE2Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2Q1" target="_blank">UBE2Q1</a>;SAVANT_INFO=-/10.1kb/13/3.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.433-45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBE2Q1+c.433-45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154528053">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,15:32:99:406,0,445:120	0|0:40,0:40:99:0,120,1426:120	1|0:18,16:34:99:464,0,463:120
1	154557685	.	C	T	10060.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Dyschromatosis_symmetrica_hereditaria|_127400_(3)|_Aicardi-Goutieres_syndrome_6|_615010_(3);dbSNP139.ID=rs9427094;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9427094" target="_blank">rs9427094</a>;ExAC.Info.AC=58576;ExAC.Info.AN=126704;ExAC.Info.AF=0.462;ExAC.Info.AC_Het=30439;ExAC.Info.AC_Hom=14065;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3572+8G>A;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3573G>A;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368474;SAVANT_GENE=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=-/26.1kb/15/6.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.3443+8G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+c.3443+8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154557685">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,70:135:99:1873,0,1962:127	1|0:96,70:166:99:2114,0,3193:127	0|0:139,0:139:99:0,417,5215:127
1	154561925	.	C	T	7358.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=912;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Dyschromatosis_symmetrica_hereditaria|_127400_(3)|_Aicardi-Goutieres_syndrome_6|_615010_(3);dbSNP139.ID=rs1127309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1127309" target="_blank">rs1127309</a>;ExAC.Info.AC=34982;ExAC.Info.AN=126704;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=24904;ExAC.Info.AC_Hom=5015;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val937Val/c.2811G>A;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368474;SAVANT_GENE=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=-/26.1kb/15/6.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2682G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+c.2682G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154561925">View</a>	GT:AD:DP:GQ:PL:TP	0|0:301,0:301:99:0,903,10230:127	0|1:181,150:331:99:3698,0,5214:127	0|0:280,0:280:99:0,841,9971:127
1	154562617	.	A	AC	695.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Dyschromatosis_symmetrica_hereditaria|_127400_(3)|_Aicardi-Goutieres_syndrome_6|_615010_(3);ExAC.Info.AC=6385;ExAC.Info.AN=126302;ExAC.Info.AF=0.051;ExAC.Info.AC_Het=4501;ExAC.Info.AC_Hom=43;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2625+43_2625+42insG;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368474;SAVANT_GENE=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=-/26.1kb/15/6.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2496+42dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+c.2496+42dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154562617">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,2:110:99:0,289,2989:127	0|1:85,33:118:99:371,0,2028:127	0|0:115,1:116:99:0,323,3168:127
1	154562624	.	CG	C	1188.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Dyschromatosis_symmetrica_hereditaria|_127400_(3)|_Aicardi-Goutieres_syndrome_6|_615010_(3);dbSNP139.ID=rs201932953;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201932953" target="_blank">rs201932953</a>;ExAC.Info.AC=51213;ExAC.Info.AN=119922;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=45548;ExAC.Info.AC_Hom=479;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2625+35delC;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368474;SAVANT_GENE=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=-/26.1kb/15/6.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2496+35delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+c.2496+35delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154562624">View</a>	GT:AD:DP:GQ:PL:TP	0/1:94,19:113:99:126,0,1989:94	0/1:102,18:120:95:95,0,2514:94	0/1:97,21:118:99:158,0,2100:94
1	154562625	.	G	C	13839.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Dyschromatosis_symmetrica_hereditaria|_127400_(3)|_Aicardi-Goutieres_syndrome_6|_615010_(3);dbSNP139.ID=rs7532276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7532276" target="_blank">rs7532276</a>;ExAC.Info.AC=72942;ExAC.Info.AN=124782;ExAC.Info.AF=0.585;ExAC.Info.AC_Het=47439;ExAC.Info.AC_Hom=8391;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2625+35C>G;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368474;SAVANT_GENE=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=-/26.1kb/15/6.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2496+35C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+c.2496+35C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154562625">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,92:113:99:1912,0,177:127	0/1:20,100:120:99:2420,0,188:127	0/1:21,97:118:99:2073,0,181:127
1	154573967	.	T	C	46405.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=668;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Dyschromatosis_symmetrica_hereditaria|_127400_(3)|_Aicardi-Goutieres_syndrome_6|_615010_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2229857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229857" target="_blank">rs2229857</a>;ExAC.Info.AC=87924;ExAC.Info.AN=126704;ExAC.Info.AF=0.694;ExAC.Info.AC_Het=25588;ExAC.Info.AC_Hom=31168;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys427Arg/c.1280A>G;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368474;SAVANT_GENE=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=-/26.1kb/15/6.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1151A>G_p.Lys384Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+c.1151A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154573967">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,183:183:99:6807,550,0:127	1|0:132,113:245:99:3587,0,3881:127	1|1:0,240:240:99:8865,721,0:127
1	154574820	.	T	C	29350.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Dyschromatosis_symmetrica_hereditaria|_127400_(3)|_Aicardi-Goutieres_syndrome_6|_615010_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1466731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1466731" target="_blank">rs1466731</a>;ExAC.Info.AC=126514;ExAC.Info.AN=126672;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=149;ExAC.Info.AC_Hom=62628;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg143Gly/c.427A>G;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368474;SAVANT_GENE=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=-/26.1kb/15/6.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.298A>G_p.Arg100Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+c.298A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154574820">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3564,313,0:127	1|1:0,125:125:99:4437,376,0:127	1|1:0,108:108:99:3681,325,0:127
1	154575040	.	C	T	32217.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=408;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Dyschromatosis_symmetrica_hereditaria|_127400_(3)|_Aicardi-Goutieres_syndrome_6|_615010_(3);dbSNP139.ID=rs1802645;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1802645" target="_blank">rs1802645</a>;ExAC.Info.AC=126594;ExAC.Info.AN=126698;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=104;ExAC.Info.AC_Hom=63095;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg69Arg/c.207G>A;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368474;SAVANT_GENE=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=-/26.1kb/15/6.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.78G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+c.78G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154575040">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:3682,348,0:127	1|1:0,184:184:99:6086,553,0:127	1|1:0,108:108:99:3509,324,0:127
1	154580348	.	GAC	G	5738.29	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=506;MQ=69.81;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;OMIM_phenotypes.name=Dyschromatosis_symmetrica_hereditaria|_127400_(3)|_Aicardi-Goutieres_syndrome_6|_615010_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.145-5248_145-5247delGT;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368474;SAVANT_GENE=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=-/26.1kb/15/6.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.15+118_15+119delGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+c.15+118_15+119delGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154580348">View</a>	GT:AD:DP:GQ:PL	0/1:130,14:144:88:88,0,4558	./0:111,12:201:99:2217,2386,6967	0/1:142,19:161:99:208,0,5115
1	154580348	.	GAC	GACAC	5738.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=506;MQ=69.81;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;OMIM_phenotypes.name=Dyschromatosis_symmetrica_hereditaria|_127400_(3)|_Aicardi-Goutieres_syndrome_6|_615010_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.145-5248_145-5249insGT;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368474;SAVANT_GENE=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=-/26.1kb/15/6.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.15+118_15+119dupGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+c.15+118_15+119dupGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154580348">View</a>	GT:AD:DP:GQ:PL	./0:130,0:144:88:88,511,5035	0/1:111,78:201:99:2217,0,3623	./0:142,0:161:99:208,679,5643
1	154580458	.	C	A	17223.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=488;MQ=69.83;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Dyschromatosis_symmetrica_hereditaria|_127400_(3)|_Aicardi-Goutieres_syndrome_6|_615010_(3);dbSNP139.ID=rs58655370;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58655370" target="_blank">rs58655370</a>;ExAC.Info.AC=29230;ExAC.Info.AN=126032;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=19762;ExAC.Info.AC_Hom=3327;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.145-5356G>T;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368474;SAVANT_GENE=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=-/26.1kb/15/6.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.15+10G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+c.15+10G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154580458">View</a>	GT:AD:DP:GQ:PL:TP	1|0:83,70:153:99:1883,0,2559:127	0|0:178,1:179:99:0,505,6596:127	1|1:1,155:156:99:5495,459,0:127
1	154600372	.	A	G	7419.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6426859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6426859" target="_blank">rs6426859</a>;ExAC.Info.AC=115126;ExAC.Info.AN=115666;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=503;ExAC.Info.AC_Hom=56818;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Cct;snpeff.Amino_Acid_Change=p.Ser35Pro/c.103T>C;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154600372">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:848,75,0:77	1|1:0,37:37:99:1384,111,0:77	1|1:0,26:26:78:885,78,0:77
1	154600394	.	T	TCCCCCCCC	2830.29	VQSRTrancheINDEL99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=46;ExAC.Info.AN=116130;ExAC.Info.AF=3.961e-04;ExAC.Info.AC_Het=82;ExAC.Info.AC_Hom=0;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=gga/ggGGGGGGGGa;snpeff.Amino_Acid_Change=p.Gly27_Gly28fs/c.80_81insGGGGGGGG;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154600394">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,14:28:99:461,0,529:127	0/1:24,21:45:99:658,0,1104:127	0/1:22,8:30:99:209,0,1001:127
1	154600401	.	A	C	2809.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gGg;snpeff.Amino_Acid_Change=p.Val25Gly/c.74T>G;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154600401">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,14:35:99:457,0,608:127	0/1:30,20:50:99:656,0,1045:127	0/1:28,8:36:99:201,0,1018:127
1	154600405	.	T	C	1792.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=6710;ExAC.Info.AN=116094;ExAC.Info.AF=0.058;ExAC.Info.AC_Het=6509;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg24Gly/c.70A>G;snpeff.Amino_Acid_length=1269;snpeff.Gene_Name=ADAR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292205;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAR" target="_blank">ADAR</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAR+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154600405">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,11:37:99:330,0,969:56	0/1:38,17:55:99:484,0,1450:56	0/1:30,4:34:56:56,0,1232:56
1	154600533	.	A	G	2716.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs28411375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28411375" target="_blank">rs28411375</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28411375" target="_blank">rs28411375</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154600533">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,204,2209:127	0|1:46,48:94:99:1377,0,1311:127	0|0:74,0:74:99:0,222,2486:127
1	154744807	.	C	G	26715.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=515;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1051614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1051614" target="_blank">rs1051614</a>;ExAC.Info.AC=73537;ExAC.Info.AN=126694;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=30790;ExAC.Info.AC_Hom=21400;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu364Leu/c.1092G>C;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271915;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271915;SAVANT_GENE=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;SAVANT_INFO=-/162.8kb/8/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1092G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNN3+c.1092G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154744807">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,94:154:99:2998,0,1629:127	1|1:1,187:188:99:6906,560,0:127	0|1:92,81:173:99:2437,0,2814:127
1	154744852	.	A	G	18749.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1131820;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131820" target="_blank">rs1131820</a>;ExAC.Info.AC=96231;ExAC.Info.AN=126694;ExAC.Info.AF=0.760;ExAC.Info.AC_Het=21836;ExAC.Info.AC_Hom=36896;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn349Asn/c.1047T>C;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271915;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271915;SAVANT_GENE=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;SAVANT_INFO=-/162.8kb/8/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1047T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNN3+c.1047T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154744852">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,62:126:99:2004,0,1666:127	1|1:0,137:137:99:4914,412,0:127	0|1:74,58:132:99:1705,0,2350:127
1	154832290	.	C	T	21541.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1061122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061122" target="_blank">rs1061122</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.933+9218G>A;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271915;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271915;SAVANT_GENE=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;SAVANT_INFO=-/162.8kb/8/3.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.933+9218G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNN3+c.933+9218G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154832290">View</a>	GT:AD:DP:GQ:PL:TP	1|0:83,84:167:99:2157,0,3250:127	0|1:108,90:198:99:2618,0,4256:127	1|1:0,161:161:99:5484,484,0:127
1	154832304	.	T	C	12482.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=523;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4845397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4845397" target="_blank">rs4845397</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.933+9204A>G;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271915;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271915;SAVANT_GENE=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;SAVANT_INFO=-/162.8kb/8/3.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.933+9204A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNN3+c.933+9204A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154832304">View</a>	GT:AD:DP:GQ:PL:TP	0|1:83,80:163:99:2438,0,3163:127	1|0:101,102:203:99:3401,0,3765:127	0|0:157,0:157:99:0,494,7100:127
1	154832322	.	A	C	43267.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1218586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1218586" target="_blank">rs1218586</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.933+9186T>G;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271915;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271915;SAVANT_GENE=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;SAVANT_INFO=-/162.8kb/8/3.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.933+9186T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNN3+c.933+9186T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154832322">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,166:166:99:6551,498,0:127	1|1:0,200:200:99:7992,610,0:127	1|1:0,160:160:99:5720,480,0:127
1	154842199	.	G	GGCTGCTGCTGCTGCT	8022.89	PASS	InheritancePattern=Normal;AC=5;AF=1.00;AN=5;DP=47;MQ=70.26;MQ0=0;culprit=FS;NA12878i_GT=1/1;NA12892_GT=./1;NA12891_GT=1/1;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=cca/cAGCAGCAGCAGCAGCca;snpeff.Amino_Acid_Change=p.Pro81_Pro82insGlnGlnGlnGlnGlnPro/c.241_242insAGCAGCAGCAGCAGC;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271915;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271915;SAVANT_GENE=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;SAVANT_INFO=-/162.8kb/8/3.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.227_241dup15_p.Gln76_Gln80dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNN3+c.227_241dup15+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154842199">View</a>	GT:AD:DP:GQ:PL	1/1:0,23:23:71:1512,97,0	1/1:0,17:17:54:1243,84,0	./1:0,3:7:99:706,168,130
1	154842199	.	G	GGCTGCTGCTGCTGCTGCTGCT	8022.89	PASS	InheritancePattern=unknown;AC=1;AF=1.00;AN=1;DP=47;MQ=70.26;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=./1;NA12891_GT=./.;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=cca/cAGCAGCAGCAGCAGCAGCAGCca;snpeff.Amino_Acid_Change=p.Pro81_Pro82insGlnGlnGlnGlnGlnGlnGlnPro/c.241_242insAGCAGCAGCAGCAGCAGCAGC;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271915;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271915;SAVANT_GENE=KCNN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNN3" target="_blank">KCNN3</a>;SAVANT_INFO=-/162.8kb/8/3.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.221_241dup21_p.Gln74_Gln80dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNN3+c.221_241dup21+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154842199">View</a>	GT:AD:DP:GQ:PL	./.:0,0:23:71:1512,1046,1013	./.:0,0:17:54:1243,723,690	./1:0,4:7:99:706,151,115
1	154918244	.	G	A	3444.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41264251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264251" target="_blank">rs41264251</a>;ExAC.Info.AC=977;ExAC.Info.AN=126702;ExAC.Info.AF=7.711e-03;ExAC.Info.AC_Het=959;ExAC.Info.AC_Hom=9;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cta/Tta;snpeff.Amino_Acid_Change=p.Leu636Leu/c.1906C>T;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=PBXIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBXIP1" target="_blank">PBXIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368463;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368463;SAVANT_GENE=PBXIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBXIP1" target="_blank">PBXIP1</a>;SAVANT_INFO=-/12.0kb/11/3.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1906C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PBXIP1+c.1906C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154918244">View</a>	GT:AD:DP:GQ:PL:TP	0|0:129,0:129:99:0,387,4559:127	0|1:66,60:126:99:1741,0,2077:127	0|0:131,0:131:99:0,393,4615:127
1	154919080	.	C	T	4761.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2061690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2061690" target="_blank">rs2061690</a>;ExAC.Info.AC=62796;ExAC.Info.AN=126694;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=27939;ExAC.Info.AC_Hom=17277;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGt/gAt;snpeff.Amino_Acid_Change=p.Gly357Asp/c.1070G>A;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=PBXIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBXIP1" target="_blank">PBXIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368463;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368463;SAVANT_GENE=PBXIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBXIP1" target="_blank">PBXIP1</a>;SAVANT_INFO=-/12.0kb/11/3.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1070G>A_p.Gly357Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PBXIP1+c.1070G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154919080">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,32:66:99:863,0,1098:127	1|0:47,29:76:99:804,0,1589:127	0|0:53,0:53:99:0,159,2036:127
1	154938235	.	G	C	5122.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1131397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131397" target="_blank">rs1131397</a>;ExAC.Info.AC=9366;ExAC.Info.AN=126680;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=6686;ExAC.Info.AC_Hom=1276;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgG;snpeff.Amino_Acid_Change=p.Arg470Arg/c.1410C>G;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=SHC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHC1" target="_blank">SHC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448116;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448116;SAVANT_GENE=SHC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHC1" target="_blank">SHC1</a>;SAVANT_INFO=-/8.5kb/12/3.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1410C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SHC1+c.1410C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154938235">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,23:49:99:695,0,691:127	1|0:39,38:77:99:1090,0,1089:127	0|0:58,0:58:99:0,174,2020:127
1	154938662	.	T	C	5717.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs8191979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8191979" target="_blank">rs8191979</a>;ExAC.Info.AC=5669;ExAC.Info.AN=126702;ExAC.Info.AF=0.045;ExAC.Info.AC_Het=5266;ExAC.Info.AC_Hom=200;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met410Val/c.1228A>G;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=SHC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHC1" target="_blank">SHC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448116;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448116;SAVANT_GENE=SHC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHC1" target="_blank">SHC1</a>;SAVANT_INFO=-/8.5kb/12/3.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1228A>G_p.Met410Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SHC1+c.1228A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154938662">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,29:72:99:875,0,1229:127	1|0:49,42:91:99:1300,0,1504:127	0|0:77,0:77:99:0,232,2871:127
1	154987526	.	C	T	9875.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11264295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264295" target="_blank">rs11264295</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=66392;ExAC.Info.AN=126662;ExAC.Info.AF=0.524;ExAC.Info.AC_Het=28639;ExAC.Info.AC_Hom=18639;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile164Ile/c.492C>T;snpeff.Amino_Acid_length=573;snpeff.Gene_Name=ZBTB7B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB7B" target="_blank">ZBTB7B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417934;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368426;SAVANT_GENE=ZBTB7B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB7B" target="_blank">ZBTB7B</a>;SAVANT_INFO=+/15.9kb/4/3.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.390C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB7B+c.390C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154987526">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,53:127:99:1397,0,2100:127	1|0:54,83:137:99:2312,0,1624:127	0|0:104,0:104:99:0,312,3676:127
1	154988957	.	A	G	9998.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2242195;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2242195" target="_blank">rs2242195</a>;ExAC.Info.AC=78382;ExAC.Info.AN=126690;ExAC.Info.AF=0.619;ExAC.Info.AC_Het=28073;ExAC.Info.AC_Hom=25012;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro506Pro/c.1518A>G;snpeff.Amino_Acid_length=573;snpeff.Gene_Name=ZBTB7B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB7B" target="_blank">ZBTB7B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417934;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368426;SAVANT_GENE=ZBTB7B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB7B" target="_blank">ZBTB7B</a>;SAVANT_INFO=+/15.9kb/4/3.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1416A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB7B+c.1416A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154988957">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1335,111,0:110	1|1:0,53:53:99:1986,159,0:110	1|0:37,22:59:99:649,0,1055:110
1	154995920	.	G	A	4143.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72702247;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72702247" target="_blank">rs72702247</a>;ExAC.Info.AC=1218;ExAC.Info.AN=126450;ExAC.Info.AF=9.632e-03;ExAC.Info.AC_Het=942;ExAC.Info.AC_Hom=24;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1884G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=DCST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST2" target="_blank">DCST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368424;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1884G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=DCST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST2" target="_blank">DCST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368424;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1884G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=DCST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST2" target="_blank">DCST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368424;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1884G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=DCST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST2" target="_blank">DCST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368424;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1884G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=DCST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST2" target="_blank">DCST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368424;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1884G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=DCST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST2" target="_blank">DCST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368424;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu628Leu/c.1884C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=DCST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST2" target="_blank">DCST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368424;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368424;SAVANT_GENE=DCST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST2" target="_blank">DCST2</a>;SAVANT_INFO=-/15.2kb/15/2.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1884C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCST2+c.1884C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:154995920">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,24:46:99:666,0,787:127	0|0:66,0:66:99:0,198,2515:127	1|0:23,30:53:99:884,0,760:127
1	155006091	.	A	G	11007.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10908453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10908453" target="_blank">rs10908453</a>;ExAC.Info.AC=59215;ExAC.Info.AN=126704;ExAC.Info.AF=0.467;ExAC.Info.AC_Het=28437;ExAC.Info.AC_Hom=15364;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.87A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=DCST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST2" target="_blank">DCST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368424;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly29Gly/c.87T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=DCST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST2" target="_blank">DCST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368424;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368424;SAVANT_GENE=DCST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST2" target="_blank">DCST2</a>;SAVANT_INFO=-/15.2kb/15/2.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.87T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCST2+c.87T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155006091">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,64:127:99:1848,0,1670:127	1|0:74,81:155:99:2421,0,1999:127	0|0:97,0:97:99:0,291,3262:127
1	155006999	.	C	T	7975.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6680600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6680600" target="_blank">rs6680600</a>;ExAC.Info.AC=57672;ExAC.Info.AN=126704;ExAC.Info.AF=0.455;ExAC.Info.AC_Het=28295;ExAC.Info.AC_Hom=14649;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.150C>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=DCST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST1" target="_blank">DCST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295542;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.150C>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=DCST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST1" target="_blank">DCST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu50Leu/c.150C>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=DCST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST1" target="_blank">DCST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295542;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295542;SAVANT_GENE=DCST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST1" target="_blank">DCST1</a>;SAVANT_INFO=+/17.1kb/17/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.150C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCST1+c.150C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155006999">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,46:99:99:1226,0,1695:127	1|0:71,62:133:99:1708,0,2323:127	0|0:79,0:79:99:0,238,2990:127
1	155019710	.	A	C	4863.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11264300;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264300" target="_blank">rs11264300</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=57377;ExAC.Info.AN=126704;ExAC.Info.AF=0.453;ExAC.Info.AC_Het=28221;ExAC.Info.AC_Hom=14565;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534A>C;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=DCST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST1" target="_blank">DCST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534A>C;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=DCST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST1" target="_blank">DCST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534A>C;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=DCST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST1" target="_blank">DCST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Ctg;snpeff.Amino_Acid_Change=p.Met512Leu/c.1534A>C;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=DCST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST1" target="_blank">DCST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295542;SAVANT_GENE=DCST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCST1" target="_blank">DCST1</a>;SAVANT_INFO=+/17.1kb/17/2.3kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1534A>C_p.Met512Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCST1+c.1534A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155019710">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,17:45:99:504,0,779:99	1|0:23,36:59:99:1213,0,697:99	0|0:33,0:33:99:0,99,1199:99
1	155026942	.	A	C	7715.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6427128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427128" target="_blank">rs6427128</a>;ExAC.Info.AC=112443;ExAC.Info.AN=126686;ExAC.Info.AF=0.888;ExAC.Info.AC_Het=12172;ExAC.Info.AC_Hom=49818;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aCg;snpeff.Amino_Acid_Change=p.Lys191Thr/c.572A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356955;SAVANT_GENE=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;SAVANT_INFO=+/11.5kb/23/2.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.572A>C_p.Lys191Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM15+c.572A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155026942">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,32:65:99:877,0,898:127	0|1:37,38:75:99:944,0,1105:127	1|1:0,50:50:99:1688,149,0:127
1	155028522	.	G	A	5388.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11264302;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264302" target="_blank">rs11264302</a>;ExAC.Info.AC=53604;ExAC.Info.AN=126696;ExAC.Info.AF=0.423;ExAC.Info.AC_Het=27406;ExAC.Info.AC_Hom=13047;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.745-34G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356955;SAVANT_GENE=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;SAVANT_INFO=+/11.5kb/23/2.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.745-34G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM15+c.745-34G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155028522">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,3209:127	0|1:36,52:88:99:1580,0,1013:127	0|1:33,38:71:99:1134,0,1079:127
1	155030557	.	A	C	11422.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=681;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11264303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264303" target="_blank">rs11264303</a>;ExAC.Info.AC=53418;ExAC.Info.AN=126704;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=27447;ExAC.Info.AC_Hom=12960;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acC;snpeff.Amino_Acid_Change=p.Thr549Thr/c.1647A>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356955;SAVANT_GENE=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;SAVANT_INFO=+/11.5kb/23/2.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1647A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM15+c.1647A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155030557">View</a>	GT:AD:DP:GQ:PL:TP	0|0:194,0:194:99:0,583,6785:127	0|1:145,126:271:99:3554,0,4299:127	0|1:134,82:216:99:2177,0,4002:127
1	155031376	.	C	T	1826.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12023499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12023499" target="_blank">rs12023499</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1995+113C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1996C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356955;SAVANT_GENE=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;SAVANT_INFO=+/11.5kb/23/2.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1995+113C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM15+c.1995+113C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155031376">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,9:20:99:186,0,327:125	0|0:42,0:42:99:0,126,1665:125	1|0:23,19:42:99:509,0,747:125
1	155033308	.	G	A	4105.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11589479;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11589479" target="_blank">rs11589479</a>;ExAC.Info.AC=16275;ExAC.Info.AN=126686;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=13640;ExAC.Info.AC_Hom=1291;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys759Lys/c.2277G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2277G>A;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356955;SAVANT_GENE=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;SAVANT_INFO=+/11.5kb/23/2.9kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2277G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM15+c.2277G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155033308">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,28:60:99:700,0,1188:127	1|0:20,24:44:99:727,0,583:127	0|0:50,0:50:99:0,150,2172:127
1	155033317	.	T	C	4542.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11264304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264304" target="_blank">rs11264304</a>;ExAC.Info.AC=89534;ExAC.Info.AN=126668;ExAC.Info.AF=0.707;ExAC.Info.AC_Het=25188;ExAC.Info.AC_Hom=31918;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2277+9T>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278T>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278T>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278T>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278T>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278T>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2278T>C;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356955;SAVANT_GENE=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;SAVANT_INFO=+/11.5kb/23/2.9kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2277+9T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM15+c.2277+9T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155033317">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,27:52:99:736,0,938:112	0|0:39,0:39:99:0,117,1640:112	1|1:0,38:38:99:1320,114,0:112
1	155033918	.	C	T	634.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41264285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264285" target="_blank">rs41264285</a>;ExAC.Info.AC=20848;ExAC.Info.AN=126678;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=16801;ExAC.Info.AC_Hom=1970;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro769Ser/c.2305C>T;snpeff.Amino_Acid_length=863;snpeff.Gene_Name=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356955;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356955;SAVANT_GENE=ADAM15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM15" target="_blank">ADAM15</a>;SAVANT_INFO=+/11.5kb/23/2.9kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2305C>T_p.Pro769Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM15+c.2305C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155033918">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,755:60	0|0:47,0:47:99:0,141,1650:60	0|1:12,14:26:99:336,0,378:60
1	155058663	.	G	A	1368.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs17723260;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17723260" target="_blank">rs17723260</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15634;ExAC.Info.AN=126688;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=13318;ExAC.Info.AC_Hom=1121;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val190Met/c.568G>A;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=EFNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFNA3" target="_blank">EFNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368408;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val185Met/c.553G>A;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=EFNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFNA3" target="_blank">EFNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000505139;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368408:ENST00000505139;SAVANT_GENE=EFNA3:RP11-540D14.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFNA3:RP11-540D148" target="_blank">EFNA3:RP11-540D148</a>;SAVANT_INFO=+/8.7kb/5/1.8kb:+/23.1kb/5/1.0kb;SAVANT_LOC=Ex4:Ex4;SAVANT_HGVS=c.568G>A_p.Val190Met:c.553G>A_p.Val185Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFNA3:RP11-540D148+c.568G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155058663">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2221:127	0|1:54,29:83:99:703,0,1542:127	0|0:58,0:58:99:0,174,2211:127
1	155106054	.	A	G	10067.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4390169;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4390169" target="_blank">rs4390169</a>;ExAC.Info.AC=56829;ExAC.Info.AN=126704;ExAC.Info.AF=0.449;ExAC.Info.AC_Het=28942;ExAC.Info.AC_Hom=13932;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.454+10A>G;snpeff.Amino_Acid_length=205;snpeff.Gene_Name=EFNA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFNA1" target="_blank">EFNA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368407;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[glycosylation_site:O-linked__GalNAc..._];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.455A>G;snpeff.Amino_Acid_length=205;snpeff.Gene_Name=EFNA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFNA1" target="_blank">EFNA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368407;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[glycosylation_site:O-linked__GalNAc..._];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.455A>G;snpeff.Amino_Acid_length=205;snpeff.Gene_Name=EFNA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFNA1" target="_blank">EFNA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368407;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368407;SAVANT_GENE=EFNA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFNA1" target="_blank">EFNA1</a>;SAVANT_INFO=+/7.4kb/5/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.454+10A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFNA1+c.454+10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155106054">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,27:57:99:759,0,944:127	1|1:0,109:109:99:3804,327,0:127	0|0:63,0:63:99:0,189,2410:127
1	155106227	.	A	T	11216.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4745" target="_blank">rs4745</a>;ExAC.Info.AC=56808;ExAC.Info.AN=126704;ExAC.Info.AF=0.448;ExAC.Info.AC_Het=28909;ExAC.Info.AC_Hom=13945;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gTc;snpeff.Amino_Acid_Change=p.Asp159Val/c.476A>T;snpeff.Amino_Acid_length=205;snpeff.Gene_Name=EFNA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFNA1" target="_blank">EFNA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368407;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368407;SAVANT_GENE=EFNA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFNA1" target="_blank">EFNA1</a>;SAVANT_INFO=+/7.4kb/5/1.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.476A>T_p.Asp159Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFNA1+c.476A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155106227">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,40:83:99:1045,0,1120:127	1|1:0,116:116:99:3830,348,0:127	0|0:85,1:86:99:0,221,2780:127
1	155106550	.	A	G	5610.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs9297;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9297" target="_blank">rs9297</a>;ExAC.Info.AC=58495;ExAC.Info.AN=126676;ExAC.Info.AF=0.462;ExAC.Info.AC_Het=28835;ExAC.Info.AC_Hom=14312;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=7;snpeff.Amino_Acid_Change=c.*7A>G;snpeff.Amino_Acid_length=205;snpeff.Gene_Name=EFNA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFNA1" target="_blank">EFNA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368407;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368407;SAVANT_GENE=EFNA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFNA1" target="_blank">EFNA1</a>;SAVANT_INFO=+/7.4kb/5/1.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*7A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFNA1+c.*7A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155106550">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,37:69:99:1073,0,782:127	0|0:92,0:92:99:0,276,3093:127	1|0:24,29:53:99:903,0,671:127
1	155142210	.	A	G	8169.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4421576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4421576" target="_blank">rs4421576</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.601+57T>C;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=RP11-201K10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-201K103" target="_blank">RP11-201K103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000473363;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.368+57T>C;snpeff.Amino_Acid_length=162;snpeff.Gene_Name=KRTCAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-201K103" target="_blank">RP11-201K103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295682;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.369A>G;snpeff.Amino_Acid_length=162;snpeff.Gene_Name=KRTCAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-201K103" target="_blank">RP11-201K103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295682;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.369A>G;snpeff.Amino_Acid_length=162;snpeff.Gene_Name=KRTCAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-201K103" target="_blank">RP11-201K103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295682;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295682;SAVANT_GENE=KRTCAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTCAP2" target="_blank">KRTCAP2</a>;SAVANT_INFO=-/3.9kb/5/0.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.368+57T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KRTCAP2+c.368+57T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155142210">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,34:56:99:1064,0,615:127	0|0:80,0:80:99:0,240,2786:127	1|1:0,67:67:99:2456,201,0:127
1	155142229	.	G	A	7666.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4276914;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4276914" target="_blank">rs4276914</a>;ExAC.Info.AC=63187;ExAC.Info.AN=123926;ExAC.Info.AF=0.510;ExAC.Info.AC_Het=15392;ExAC.Info.AC_Hom=9834;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.601+38C>T;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=RP11-201K10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-201K103" target="_blank">RP11-201K103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000473363;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.368+38C>T;snpeff.Amino_Acid_length=162;snpeff.Gene_Name=KRTCAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-201K103" target="_blank">RP11-201K103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295682;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.369G>A;snpeff.Amino_Acid_length=162;snpeff.Gene_Name=KRTCAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-201K103" target="_blank">RP11-201K103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295682;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.369G>A;snpeff.Amino_Acid_length=162;snpeff.Gene_Name=KRTCAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-201K103" target="_blank">RP11-201K103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295682;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295682;SAVANT_GENE=KRTCAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTCAP2" target="_blank">KRTCAP2</a>;SAVANT_INFO=-/3.9kb/5/0.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.368+38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KRTCAP2+c.368+38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155142229">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,33:55:99:1004,0,550:127	0|0:74,0:74:99:0,223,2649:127	1|1:0,60:60:99:2116,180,0:127
1	155149718	.	G	A	16512.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=758;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3814316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814316" target="_blank">rs3814316</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=53561;ExAC.Info.AN=126704;ExAC.Info.AF=0.423;ExAC.Info.AC_Het=28330;ExAC.Info.AC_Hom=12605;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.49-3768C>T;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=RP11-201K10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-201K103" target="_blank">RP11-201K103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000473363;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr287Thr/c.861G>A;snpeff.Amino_Acid_length=759;snpeff.Gene_Name=TRIM46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-201K103" target="_blank">RP11-201K103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334634;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334634;SAVANT_GENE=TRIM46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM46" target="_blank">TRIM46</a>;SAVANT_INFO=+/11.0kb/10/3.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.861G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM46+c.861G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155149718">View</a>	GT:AD:DP:GQ:PL:TP	1|0:119,111:230:99:3289,0,3409:127	0|0:281,0:281:99:0,845,10011:127	1|0:126,121:247:99:3577,0,3575:127
1	155151219	.	A	C	99.5	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=38;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1285+130A>C;snpeff.Amino_Acid_length=759;snpeff.Gene_Name=TRIM46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM46" target="_blank">TRIM46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334634;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.49-5269T>G;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=RP11-201K10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM46" target="_blank">TRIM46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000473363;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1286A>C;snpeff.Amino_Acid_length=759;snpeff.Gene_Name=TRIM46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM46" target="_blank">TRIM46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334634;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1286A>C;snpeff.Amino_Acid_length=759;snpeff.Gene_Name=TRIM46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM46" target="_blank">TRIM46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334634;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334634;SAVANT_GENE=TRIM46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM46" target="_blank">TRIM46</a>;SAVANT_INFO=+/11.0kb/10/3.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1285+130A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM46+c.1285+130A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155151219">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,6:19:62:62,0,640:5	0/1:10,3:13:33:33,0,470:5	0/1:6,0:6:4:4,0,241:5
1	155151228	.	A	C	63.48	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=41;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1285+139A>C;snpeff.Amino_Acid_length=759;snpeff.Gene_Name=TRIM46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM46" target="_blank">TRIM46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334634;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.49-5278T>G;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=RP11-201K10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM46" target="_blank">TRIM46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000473363;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1286A>C;snpeff.Amino_Acid_length=759;snpeff.Gene_Name=TRIM46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM46" target="_blank">TRIM46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334634;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1286A>C;snpeff.Amino_Acid_length=759;snpeff.Gene_Name=TRIM46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM46" target="_blank">TRIM46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334634;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334634;SAVANT_GENE=TRIM46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM46" target="_blank">TRIM46</a>;SAVANT_INFO=+/11.0kb/10/3.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1285+139A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM46+c.1285+139A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155151228">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,5:16:32:32,0,640:3	1|0:10,3:13:33:33,0,481:3	0|0:10,2:12:1:0,1,388:3
1	155160556	.	A	G	1714.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Medullary_cystic_kidney_disease_1|_174000_(3);dbSNP139.ID=rs11465206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11465206" target="_blank">rs11465206</a>;ExAC.Info.AC=1289;ExAC.Info.AN=126310;ExAC.Info.AF=0.010;ExAC.Info.AC_Het=1232;ExAC.Info.AC_Hom=15;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.889-17T>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=MUC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC1" target="_blank">MUC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368395;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368395;SAVANT_GENE=MUC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC1" target="_blank">MUC1</a>;SAVANT_INFO=-/4.4kb/8/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.889-17T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC1+c.889-17T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155160556">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1814:127	0|1:33,28:61:99:876,0,972:127	0|0:70,0:70:99:0,210,2377:127
1	155162067	.	C	T	13347.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Medullary_cystic_kidney_disease_1|_174000_(3);dbSNP139.ID=rs4072037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4072037" target="_blank">rs4072037</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Gastric_cancer|_association_with;hgmd_2014.2.OMIM_ID=158340;hgmd_2014.2.PubMed=19885554;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19885554" target="_blank">19885554</a>;ExAC.Info.AC=73323;ExAC.Info.AN=126686;ExAC.Info.AF=0.579;ExAC.Info.AC_Het=29932;ExAC.Info.AC_Hom=21633;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr22Thr/c.66G>A;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=MUC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC1" target="_blank">MUC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368395;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368395;SAVANT_GENE=MUC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC1" target="_blank">MUC1</a>;SAVANT_INFO=-/4.4kb/8/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.66G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC1+c.66G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155162067">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,40:75:99:1168,0,931:127	0|1:47,56:103:99:1678,0,1354:127	1|1:0,80:80:99:2785,240,0:127
1	155167786	.	A	G	1922.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41264915;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264915" target="_blank">rs41264915</a>;ExAC.Info.AC=12615;ExAC.Info.AN=126696;ExAC.Info.AF=0.100;ExAC.Info.AC_Het=10948;ExAC.Info.AC_Hom=825;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-263K19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2253+47T>C;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2254A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2254A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2254A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2254A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2254A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2254A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2254A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2254A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2254A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2254A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2254A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368378;SAVANT_GENE=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THBS3" target="_blank">THBS3</a>;SAVANT_INFO=-/12.3kb/23/3.1kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2253+47T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THBS3+c.2253+47T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155167786">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,183,2270:127	0|0:77,0:77:99:0,232,2976:127	0|1:36,33:69:99:980,0,1121:127
1	155172725	.	T	C	3304.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35154152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35154152" target="_blank">rs35154152</a>;ExAC.Info.AC=12103;ExAC.Info.AN=126694;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=10531;ExAC.Info.AC_Hom=764;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.303-189T>C;snpeff.Gene_Name=RP11-263K19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453136;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835T>C;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser279Gly/c.835A>G;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-263K194" target="_blank">RP11-263K194</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368378;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368378;SAVANT_GENE=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THBS3" target="_blank">THBS3</a>;SAVANT_INFO=-/12.3kb/23/3.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.835A>G_p.Ser279Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THBS3+c.835A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155172725">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,340,3944:127	0|0:150,0:150:99:0,451,5169:127	0|1:59,60:119:99:1671,0,1820:127
1	155178782	.	A	T	5819.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs760077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=760077" target="_blank">rs760077</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Parkinson_disease|_GBA-associated|_modifier_of;hgmd_2014.2.OMIM_ID=600605;hgmd_2014.2.PubMed=21837367;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21837367" target="_blank">21837367</a>;ExAC.Info.AC=74616;ExAC.Info.AN=120576;ExAC.Info.AF=0.619;ExAC.Info.AC_Het=20686;ExAC.Info.AC_Hom=19035;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=THBS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THBS3" target="_blank">THBS3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Tct;snpeff.Amino_Acid_Change=p.Thr63Ser/c.187A>T;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=MTX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THBS3" target="_blank">THBS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368376;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368376;SAVANT_GENE=MTX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTX1" target="_blank">MTX1</a>;SAVANT_INFO=+/5.1kb/8/1.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.187A>T_p.Thr63Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTX1+c.187A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155178782">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,19:37:99:550,0,492:90	0|1:24,26:50:99:799,0,640:90	1|1:0,30:30:90:1102,90,0:90
1	155184975	.	A	G	23395.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=476;MQ=64.28;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs140081212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140081212" target="_blank">rs140081212</a>;ExAC.Info.AC=80307;ExAC.Info.AN=126664;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=27821;ExAC.Info.AC_Hom=25065;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2044-22T>C;snpeff.Gene_Name=GBAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBAP1" target="_blank">GBAP1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000459805;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368374;SAVANT_GENE=GBAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBAP1" target="_blank">GBAP1</a>;SAVANT_INFO=-/13.6kb/11/1.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.749-22T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBAP1+c.749-22T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155184975">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,72:126:99:2183,0,1537:127	0|1:99,88:187:99:2457,0,3052:127	1|1:0,163:163:99:5838,490,0:127
1	155186729	.	T	C	9090.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=189;MQ=67.55;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28445596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28445596" target="_blank">rs28445596</a>;ExAC.Info.AC=70517;ExAC.Info.AN=126690;ExAC.Info.AF=0.557;ExAC.Info.AC_Het=29825;ExAC.Info.AC_Hom=19708;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1264A>G;snpeff.Gene_Name=GBAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBAP1" target="_blank">GBAP1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000459805;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368374;SAVANT_GENE=GBAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBAP1" target="_blank">GBAP1</a>;SAVANT_INFO=-/13.6kb/11/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.314A>G_p.Lys105Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBAP1+c.314A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155186729">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,31:61:99:910,0,901:127	0|1:44,32:76:99:898,0,1279:127	1|1:0,52:52:99:1929,156,0:127
1	155186742	.	G	A	5634.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=180;MQ=66.18;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1057941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057941" target="_blank">rs1057941</a>;ExAC.Info.AC=56017;ExAC.Info.AN=126682;ExAC.Info.AF=0.442;ExAC.Info.AC_Het=28012;ExAC.Info.AC_Hom=12701;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1251C>T;snpeff.Gene_Name=GBAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBAP1" target="_blank">GBAP1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000459805;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368374;SAVANT_GENE=GBAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBAP1" target="_blank">GBAP1</a>;SAVANT_INFO=-/13.6kb/11/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.301C>T_p.Arg101Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBAP1+c.301C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155186742">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,28:60:99:814,0,814:127	0/1:41,31:72:99:868,0,1214:127	0/1:28,20:48:99:498,0,923:127
1	155203060	.	G	A	6526.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=166;MQ=62.07;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs56310840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56310840" target="_blank">rs56310840</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.392-51G>A;snpeff.Gene_Name=MTX1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTX1P1" target="_blank">MTX1P1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000440904;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTX1P1" target="_blank">MTX1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTX1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155203060">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,31:52:99:957,0,535:127	0|0:59,0:59:99:0,177,2074:127	1|1:0,55:55:99:1938,165,0:127
1	155205170	.	A	G	2004.03	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=152;MQ=61.48;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Gaucher_disease|_type_I|_230800(3)|_Gaucher_disease|_type_II|_230900_(3)|_Gaucher_disease|_type_III|_231000_(3)|_Gaucher_disease|_type_IIIC|_231005_(3)|_Gaucher_disease|_perinatal_lethal|_608013_(3)|_{Parkinson_disease|_late-onset|_susceptibility_to}|_168600_(3)|_{Lewy_body_dementia|_susceptibility_to}|_127750_(3);dbSNP139.ID=rs143255568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=143255568" target="_blank">rs143255568</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1389-68T>C;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=GBA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA" target="_blank">GBA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327247;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327247;SAVANT_GENE=GBA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA" target="_blank">GBA</a>;SAVANT_INFO=-/10.2kb/12/2.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1389-68T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBA+c.1389-68T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155205170">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,12:48:99:312,0,1043:127	1|0:30,19:49:99:578,0,939:127	0|0:55,0:55:99:0,165,1786:127
1	155205669	.	G	T	40783.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=511;MQ=64.62;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Gaucher_disease|_type_I|_230800(3)|_Gaucher_disease|_type_II|_230900_(3)|_Gaucher_disease|_type_III|_231000_(3)|_Gaucher_disease|_type_IIIC|_231005_(3)|_Gaucher_disease|_perinatal_lethal|_608013_(3)|_{Parkinson_disease|_late-onset|_susceptibility_to}|_168600_(3)|_{Lewy_body_dementia|_susceptibility_to}|_127750_(3);dbSNP139.ID=rs28559737;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28559737" target="_blank">rs28559737</a>;ExAC.Info.AC=124624;ExAC.Info.AN=126694;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=1689;ExAC.Info.AC_Hom=61188;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1225-34C>A;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=GBA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA" target="_blank">GBA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327247;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327247;SAVANT_GENE=GBA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA" target="_blank">GBA</a>;SAVANT_INFO=-/10.2kb/12/2.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1225-34C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBA+c.1225-34C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155205669">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,153:153:99:5207,459,0:127	1|1:0,195:195:99:6785,585,0:127	1|1:0,163:163:99:5518,489,0:127
1	155207030	.	G	A	4610.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=476;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Gaucher_disease|_type_I|_230800(3)|_Gaucher_disease|_type_II|_230900_(3)|_Gaucher_disease|_type_III|_231000_(3)|_Gaucher_disease|_type_IIIC|_231005_(3)|_Gaucher_disease|_perinatal_lethal|_608013_(3)|_{Parkinson_disease|_late-onset|_susceptibility_to}|_168600_(3)|_{Lewy_body_dementia|_susceptibility_to}|_127750_(3);dbSNP139.ID=rs72704130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72704130" target="_blank">rs72704130</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.999+102C>T;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=GBA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA" target="_blank">GBA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327247;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327247;SAVANT_GENE=GBA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA" target="_blank">GBA</a>;SAVANT_INFO=-/10.2kb/12/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.999+102C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBA+c.999+102C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155207030">View</a>	GT:AD:DP:GQ:PL:TP	0|0:144,0:144:99:0,433,5279:127	0|0:194,0:194:99:0,583,6947:127	0|1:64,74:138:99:2324,0,1944:127
1	155209360	.	C	T	8365.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Gaucher_disease|_type_I|_230800(3)|_Gaucher_disease|_type_II|_230900_(3)|_Gaucher_disease|_type_III|_231000_(3)|_Gaucher_disease|_type_IIIC|_231005_(3)|_Gaucher_disease|_perinatal_lethal|_608013_(3)|_{Parkinson_disease|_late-onset|_susceptibility_to}|_168600_(3)|_{Lewy_body_dementia|_susceptibility_to}|_127750_(3);dbSNP139.ID=rs2075569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075569" target="_blank">rs2075569</a>;ExAC.Info.AC=46250;ExAC.Info.AN=126650;ExAC.Info.AF=0.365;ExAC.Info.AC_Het=26675;ExAC.Info.AC_Hom=9176;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.454+47G>A;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=GBA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA" target="_blank">GBA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327247;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327247;SAVANT_GENE=GBA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA" target="_blank">GBA</a>;SAVANT_INFO=-/10.2kb/12/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.454+47G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBA+c.454+47G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155209360">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,39:91:99:1033,0,1527:127	0|0:140,0:140:99:0,421,4907:127	1|1:0,89:89:99:3114,267,0:127
1	155218168	.	T	C	1972.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2075568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075568" target="_blank">rs2075568</a>;ExAC.Info.AC=42099;ExAC.Info.AN=126702;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=25207;ExAC.Info.AC_Hom=8417;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1579+28A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=FAM189B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM189B" target="_blank">FAM189B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361361;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361361;SAVANT_GENE=FAM189B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM189B" target="_blank">FAM189B</a>;SAVANT_INFO=-/8.2kb/12/3.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1579+28A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM189B+c.1579+28A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155218168">View</a>	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,369,3937:127	0|0:139,1:140:99:0,377,4681:127	0|1:55,36:91:99:1005,0,1505:127
1	155224301	.	C	A	710.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2242577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2242577" target="_blank">rs2242577</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.226-54G>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=FAM189B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM189B" target="_blank">FAM189B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361361;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.226C>A;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=FAM189B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM189B" target="_blank">FAM189B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361361;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.226C>A;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=FAM189B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM189B" target="_blank">FAM189B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361361;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361361;SAVANT_GENE=FAM189B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM189B" target="_blank">FAM189B</a>;SAVANT_INFO=-/8.2kb/12/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.226-54G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM189B+c.226-54G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155224301">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1431:119	0|0:45,0:45:99:0,135,1656:119	0|1:34,15:49:99:374,0,1235:119
1	155260383	.	G	T	14469.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Pyruvate_kinase_deficiency|_266200_(3)|_Adenosine_triphosphate|_elevated|_of_erythrocytes|_102900_(3)|Pyruvate_kinase_deficiency|_266200_(3)|_Adenosine_triphosphate|_elevated|_of_erythrocytes|_102900_(3);dbSNP139.ID=rs1052176;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052176" target="_blank">rs1052176</a>;ExAC.Info.AC=42235;ExAC.Info.AN=126702;ExAC.Info.AF=0.333;ExAC.Info.AC_Het=25940;ExAC.Info.AC_Hom=8053;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1705G>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=PKLR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKLR" target="_blank">PKLR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342741;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cgg/Agg;snpeff.Amino_Acid_Change=p.Arg569Arg/c.1705C>A;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=PKLR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKLR" target="_blank">PKLR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342741;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342741;SAVANT_GENE=PKLR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKLR" target="_blank">PKLR</a>;SAVANT_INFO=-/11.2kb/11/2.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1705C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKLR+c.1705C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155260383">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,38:91:99:993,0,1425:127	0|1:64,56:120:99:1543,0,1928:127	1|1:0,94:94:99:3345,283,0:127
1	155265177	.	A	G	8824.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=198;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Pyruvate_kinase_deficiency|_266200_(3)|_Adenosine_triphosphate|_elevated|_of_erythrocytes|_102900_(3)|Pyruvate_kinase_deficiency|_266200_(3)|_Adenosine_triphosphate|_elevated|_of_erythrocytes|_102900_(3);dbSNP139.ID=rs2071053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2071053" target="_blank">rs2071053</a>;ExAC.Info.AC=42611;ExAC.Info.AN=125762;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=23972;ExAC.Info.AC_Hom=8009;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.507+51T>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=PKLR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKLR" target="_blank">PKLR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342741;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342741;SAVANT_GENE=PKLR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKLR" target="_blank">PKLR</a>;SAVANT_INFO=-/11.2kb/11/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.507+51T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKLR+c.507+51T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155265177">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,28:60:99:858,0,1073:127	0|1:40,38:78:99:1134,0,1184:127	1|1:0,60:60:99:2087,180,0:127
1	155279482	.	T	G	15245.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2297480;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297480" target="_blank">rs2297480</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1-98T>G;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=FDPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FDPS" target="_blank">FDPS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368356;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356657;SAVANT_GENE=FDPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FDPS" target="_blank">FDPS</a>;SAVANT_INFO=+/11.8kb/11/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-99T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FDPS+c.-99T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155279482">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,61:140:99:1541,0,2170:127	0|1:83,75:158:99:2045,0,2415:127	1|1:0,100:100:99:3368,300,0:127
1	155289545	.	T	G	6671.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11264361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264361" target="_blank">rs11264361</a>;ExAC.Info.AC=38086;ExAC.Info.AN=126698;ExAC.Info.AF=0.301;ExAC.Info.AC_Het=24438;ExAC.Info.AC_Hom=6821;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.925-40T>G;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=FDPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FDPS" target="_blank">FDPS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368356;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.561+49A>C;snpeff.Gene_Name=RUSC1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FDPS" target="_blank">FDPS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446880;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.925T>G;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=FDPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FDPS" target="_blank">FDPS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368356;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.925T>G;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=FDPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FDPS" target="_blank">FDPS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368356;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356657;SAVANT_GENE=FDPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FDPS" target="_blank">FDPS</a>;SAVANT_INFO=+/11.8kb/11/1.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.925-40T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FDPS+c.925-40T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155289545">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,26:54:99:782,0,748:116	0|1:28,25:53:99:693,0,814:116	1|1:0,39:39:99:1480,117,0:116
1	155290231	.	T	C	662.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41314549;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41314549" target="_blank">rs41314549</a>;ExAC.Info.AC=1943;ExAC.Info.AN=126702;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1891;ExAC.Info.AC_Hom=21;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.411-487A>G;snpeff.Gene_Name=RUSC1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUSC1-AS1" target="_blank">RUSC1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446880;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1091T>C;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=FDPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUSC1-AS1" target="_blank">RUSC1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368356;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val364Ala/c.1091T>C;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=FDPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUSC1-AS1" target="_blank">RUSC1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368356;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356657;SAVANT_GENE=FDPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FDPS" target="_blank">FDPS</a>;SAVANT_INFO=+/11.8kb/11/1.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1091T>C_p.Val364Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FDPS+c.1091T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155290231">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,894:78	0|0:57,0:57:99:0,171,1910:78	0|1:11,11:22:99:350,0,314:78
1	155294274	.	A	G	13052.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs914616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=914616" target="_blank">rs914616</a>;ExAC.Info.AC=121981;ExAC.Info.AN=123586;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1162;ExAC.Info.AC_Hom=56698;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1358-362A>G;snpeff.Amino_Acid_length=902;snpeff.Gene_Name=RUSC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUSC1" target="_blank">RUSC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368352;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368352;SAVANT_GENE=RUSC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUSC1" target="_blank">RUSC1</a>;SAVANT_INFO=+/10.2kb/10/3.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.1358-362A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RUSC1+c.1358-362A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155294274">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1802,147,0:127	1|1:0,49:49:99:1811,147,0:127	1|1:0,49:49:99:1817,147,0:127
1	155327091	.	G	A	9454.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=462;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41264233;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264233" target="_blank">rs41264233</a>;ExAC.Info.AC=1453;ExAC.Info.AN=126692;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1411;ExAC.Info.AC_Hom=21;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7070+16C>T;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392403;SAVANT_GENE=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;SAVANT_INFO=-/226.5kb/28/11.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.7055+16C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASH1L+c.7055+16C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155327091">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,65:117:99:1797,0,1481:127	1|0:98,84:182:99:2284,0,2887:127	0|0:163,0:163:99:0,488,5563:127
1	155408635	.	T	C	36172.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=451;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4971053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4971053" target="_blank">rs4971053</a>;ExAC.Info.AC=125072;ExAC.Info.AN=126704;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1408;ExAC.Info.AC_Hom=61830;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5311T>C;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5311T>C;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5311T>C;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr1771Ala/c.5311A>G;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392403;SAVANT_GENE=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;SAVANT_INFO=-/226.5kb/28/11.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.5311A>G_p.Thr1771Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASH1L+c.5311A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155408635">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:4245,378,0:127	1|1:0,163:163:99:5867,490,0:127	1|1:0,162:162:99:5593,486,0:127
1	155429725	.	A	C	7526.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10908466;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10908466" target="_blank">rs10908466</a>;ExAC.Info.AC=37555;ExAC.Info.AN=126090;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=20809;ExAC.Info.AC_Hom=5744;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4985-36T>G;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4985A>C;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4985A>C;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4985A>C;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392403;SAVANT_GENE=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;SAVANT_INFO=-/226.5kb/28/11.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.4985-36T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASH1L+c.4985-36T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155429725">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,18:42:99:554,0,694:127	0|1:32,29:61:99:998,0,986:127	1|1:0,48:48:99:1868,144,0:127
1	155532316	.	T	C	12677.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=105;MQ=69.86;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12403379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12403379" target="_blank">rs12403379</a>;ExAC.Info.AC=20250;ExAC.Info.AN=20252;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=6497;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.496T>C;snpeff.Gene_Name=ASH1L-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L-AS1" target="_blank">ASH1L-AS1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000594351;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=41006;snpeff.Amino_Acid_Change=c.-472A>G;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L-AS1" target="_blank">ASH1L-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392403;SAVANT_GENE=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L" target="_blank">ASH1L</a>;SAVANT_INFO=-/226.5kb/28/11.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-41006A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASH1L+c.-41006A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155532316">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1615,108,0:104	1|1:0,37:37:99:1661,111,0:104	1|1:0,35:35:99:1572,105,0:104
1	155532325	.	T	C	13651.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=114;MQ=69.87;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12403380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12403380" target="_blank">rs12403380</a>;ExAC.Info.AC=20062;ExAC.Info.AN=20062;ExAC.Info.AF=1.00;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=6517;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.505T>C;snpeff.Gene_Name=ASH1L-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L-AS1" target="_blank">ASH1L-AS1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000594351;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=41015;snpeff.Amino_Acid_Change=c.-481A>G;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L-AS1" target="_blank">ASH1L-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L-AS1" target="_blank">ASH1L-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASH1L-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155532325">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1977,132,0:107	1|1:0,36:36:99:1620,108,0:107	1|1:0,37:37:99:1710,114,0:107
1	155532332	.	T	C	14342.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=114;MQ=69.87;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs34869594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34869594" target="_blank">rs34869594</a>;ExAC.Info.AC=19953;ExAC.Info.AN=20002;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=17;ExAC.Info.AC_Hom=6478;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.512T>C;snpeff.Gene_Name=ASH1L-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L-AS1" target="_blank">ASH1L-AS1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000594351;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=41022;snpeff.Amino_Acid_Change=c.-488A>G;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L-AS1" target="_blank">ASH1L-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L-AS1" target="_blank">ASH1L-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASH1L-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155532332">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1935,129,0:112	1|1:0,35:35:99:1707,114,0:112	1|1:0,36:36:99:1749,117,0:112
1	155532341	.	T	C	14066.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=118;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs61812107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61812107" target="_blank">rs61812107</a>;ExAC.Info.AC=19942;ExAC.Info.AN=19942;ExAC.Info.AF=1.00;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=6501;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.521T>C;snpeff.Gene_Name=ASH1L-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L-AS1" target="_blank">ASH1L-AS1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000594351;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=41031;snpeff.Amino_Acid_Change=c.-497A>G;snpeff.Amino_Acid_length=2969;snpeff.Gene_Name=ASH1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L-AS1" target="_blank">ASH1L-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368346;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASH1L-AS1" target="_blank">ASH1L-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASH1L-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155532341">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:2016,138,0:107	1|1:0,37:37:99:1627,111,0:107	1|1:0,36:36:99:1659,111,0:107
1	155581311	.	T	C	13260.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=310;MQ=46.37;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs141265144;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141265144" target="_blank">rs141265144</a>;ExAC.Info.AC=38282;ExAC.Info.AN=126646;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=24533;ExAC.Info.AC_Hom=6757;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.73-29T>C;snpeff.Gene_Name=MSTO2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO2P" target="_blank">MSTO2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538914;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.367-29T>C;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO2P" target="_blank">MSTO2P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000245564;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000245564;SAVANT_GENE=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;SAVANT_INFO=+/4.7kb/14/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.367-29T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSTO1+c.367-29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155581311">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,49:99:99:1360,0,1321:127	0|1:62,61:123:99:1712,0,1624:127	1|1:0,88:88:99:3028,264,0:127
1	155581757	.	A	G	812.7	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=12;MQ=30.04;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs145150302;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145150302" target="_blank">rs145150302</a>;ExAC.Info.AC=63790;ExAC.Info.AN=68488;ExAC.Info.AF=0.931;ExAC.Info.AC_Het=334;ExAC.Info.AC_Hom=4954;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.266+139A>G;snpeff.Gene_Name=MSTO2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO2P" target="_blank">MSTO2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538914;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.561-17A>G;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO2P" target="_blank">MSTO2P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000245564;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000245564;SAVANT_GENE=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;SAVANT_INFO=+/4.7kb/14/2.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.561-17A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSTO1+c.561-17A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155581757">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,6:6:18:209,18,0:6	1|1:0,4:4:12:139,12,0:6	1|1:0,2:2:6:70,6,0:6
1	155583937	.	A	G	630.7	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=14;MQ=45.38;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs147713038;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147713038" target="_blank">rs147713038</a>;ExAC.Info.AC=36271;ExAC.Info.AN=124712;ExAC.Info.AF=0.291;ExAC.Info.AC_Het=19548;ExAC.Info.AC_Hom=4776;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.266+2319A>G;snpeff.Gene_Name=MSTO2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO2P" target="_blank">MSTO2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538914;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.1586A>G;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO2P" target="_blank">MSTO2P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000245564;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys529Arg/c.1586A>G;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO2P" target="_blank">MSTO2P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000245564;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000245564;SAVANT_GENE=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;SAVANT_INFO=+/4.7kb/14/2.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1586A>G_p.Lys529Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSTO1+c.1586A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155583937">View</a>	GT:AD:DP:GQ:PL:TP	1|0:2,4:6:53:132,0,53:12	0|1:3,1:4:30:30,0,103:12	1|1:0,4:4:12:171,12,0:12
1	155618415	.	CT	C	32568.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=393;MQ=64.76;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5777949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5777949" target="_blank">rs5777949</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1069delA;snpeff.Gene_Name=RP11-29H23.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-29H235" target="_blank">RP11-29H235</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000500626;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-29H235" target="_blank">RP11-29H235</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.266+36798delT;snpeff.Gene_Name=MSTO2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-29H235" target="_blank">RP11-29H235</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538914;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-29H235" target="_blank">RP11-29H235</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-29H235+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155618415">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3695,331,0:127	1|1:0,164:164:99:5496,493,0:127	1|1:0,119:119:99:3964,357,0:127
1	155630752	.	A	G	20500.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=454;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3738590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738590" target="_blank">rs3738590</a>;ExAC.Info.AC=38580;ExAC.Info.AN=126692;ExAC.Info.AF=0.305;ExAC.Info.AC_Het=24728;ExAC.Info.AC_Hom=6798;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1411-48T>C;snpeff.Amino_Acid_length=888;snpeff.Gene_Name=YY1AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368339;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.266+49134A>G;snpeff.Gene_Name=MSTO2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538914;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368339;SAVANT_GENE=YY1AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YY1AP1" target="_blank">YY1AP1</a>;SAVANT_INFO=-/29.0kb/10/2.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1411-48T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YY1AP1+c.1411-48T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155630752">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,85:166:99:2408,0,2164:127	0|1:81,75:156:99:2301,0,2242:127	1|1:0,132:132:99:4814,397,0:127
1	155658085	.	T	C	8726.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2666826;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2666826" target="_blank">rs2666826</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=39824;ExAC.Info.AN=118508;ExAC.Info.AF=0.336;ExAC.Info.AC_Het=11032;ExAC.Info.AC_Hom=4011;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAP3" target="_blank">DAP3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAP3" target="_blank">DAP3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.267-59207T>C;snpeff.Gene_Name=MSTO2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAP3" target="_blank">DAP3</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538914;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu57Glu/c.171A>G;snpeff.Amino_Acid_length=888;snpeff.Gene_Name=YY1AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAP3" target="_blank">DAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368339;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368339;SAVANT_GENE=YY1AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YY1AP1" target="_blank">YY1AP1</a>;SAVANT_INFO=-/29.0kb/10/2.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.171A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YY1AP1+c.171A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155658085">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,37:76:99:1142,0,1078:127	0/1:53,38:91:99:1138,0,1527:127	0/1:46,34:80:99:1071,0,1270:127
1	155679543	.	CT	C	273.95	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs372695062;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=372695062" target="_blank">rs372695062</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-7-20delT;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=DAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368336;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.267-37748delT;snpeff.Gene_Name=MSTO2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538914;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368336;SAVANT_GENE=DAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAP3" target="_blank">DAP3</a>;SAVANT_INFO=+/50.0kb/13/2.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-15delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAP3+c.-15delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155679543">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,6:57:14:0,14,1132:11	0|1:61,13:74:77:77,0,1271:11	0|0:49,7:56:14:0,14,1070:11
1	155686739	.	CA	C	930.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=68;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs377724521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=377724521" target="_blank">rs377724521</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.46-57delA;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=DAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368336;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.267-30552delA;snpeff.Gene_Name=MSTO2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538914;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368336;SAVANT_GENE=DAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAP3" target="_blank">DAP3</a>;SAVANT_INFO=+/50.0kb/13/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.46-41delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAP3+c.46-41delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155686739">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,13:27:99:198,0,204:95	0/1:15,13:28:99:189,0,210:95	0/1:6,7:13:97:102,0,97:95
1	155715641	.	G	A	529.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=18;MQ=68.54;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11264409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264409" target="_blank">rs11264409</a>;ExAC.Info.AC=31649;ExAC.Info.AN=112174;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=13453;ExAC.Info.AC_Hom=3794;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.267-1651G>A;snpeff.Gene_Name=MSTO2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538914;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSTO1" target="_blank">MSTO1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSTO1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155715641">View</a>	GT:AD:DP:GQ:PL:TP	0/1:2,3:5:71:79,0,71:66	0/1:4,4:8:99:123,0,147:66	0/1:2,3:5:68:98,0,68:66
1	155721911	.	C	T	7895.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=289;MQ=63.42;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201235180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201235180" target="_blank">rs201235180</a>;ExAC.Info.AC=754;ExAC.Info.AN=124948;ExAC.Info.AF=6.035e-03;ExAC.Info.AC_Het=731;ExAC.Info.AC_Hom=11;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu2105Lys/c.6313G>A;snpeff.Amino_Acid_length=2241;snpeff.Gene_Name=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368331;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000437809;SAVANT_GENE=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;SAVANT_INFO=-/109.7kb/32/7.7kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.6310G>A_p.Glu2104Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GON4L+c.6310G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155721911">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,52:103:99:1474,0,1571:127	1|0:50,58:108:99:1740,0,1601:127	0|0:78,0:78:99:0,234,2830:127
1	155733358	.	G	A	7618.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=486;MQ=68.96;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72706143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72706143" target="_blank">rs72706143</a>;ExAC.Info.AC=20;ExAC.Info.AN=39908;ExAC.Info.AF=5.012e-04;ExAC.Info.AC_Het=19;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4474-3C>T;snpeff.Amino_Acid_length=2241;snpeff.Gene_Name=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368331;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4474G>A;snpeff.Amino_Acid_length=2241;snpeff.Gene_Name=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368331;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4474G>A;snpeff.Amino_Acid_length=2241;snpeff.Gene_Name=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368331;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4474C>T;snpeff.Amino_Acid_length=2241;snpeff.Gene_Name=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368331;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000437809;SAVANT_GENE=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;SAVANT_INFO=-/109.7kb/32/7.7kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.4474-3C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GON4L+c.4474-3C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155733358">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,60:132:99:1472,0,2202:127	0|0:215,0:215:99:0,646,7636:127	1|0:85,54:139:99:1438,0,2480:127
1	155735012	.	T	C	37089.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=820;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2297775;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297775" target="_blank">rs2297775</a>;ExAC.Info.AC=42445;ExAC.Info.AN=126704;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=26225;ExAC.Info.AC_Hom=8105;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met1418Val/c.4252A>G;snpeff.Amino_Acid_length=2241;snpeff.Gene_Name=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368331;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000437809;SAVANT_GENE=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;SAVANT_INFO=-/109.7kb/32/7.7kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.4252A>G_p.Met1418Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GON4L+c.4252A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155735012">View</a>	GT:AD:DP:GQ:PL:TP	1|0:129,129:258:99:4053,0,3696:127	0|1:178,135:313:99:3977,0,5113:127	1|1:0,249:249:99:9117,748,0:127
1	155746340	.	CT	C	11041.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs60525991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60525991" target="_blank">rs60525991</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2092-69delA;snpeff.Amino_Acid_length=2241;snpeff.Gene_Name=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000437809;SAVANT_GENE=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;SAVANT_INFO=-/109.7kb/32/7.7kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2092-69delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GON4L+c.2092-69delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155746340">View</a>	GT:AD:DP:GQ:PL:TP	1|1:4,56:60:74:1427,74,0:127	1|1:2,72:74:99:1836,168,0:127	1|1:1,64:65:99:1693,168,0:127
1	155755097	.	G	A	24092.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs822021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=822021" target="_blank">rs822021</a>;ExAC.Info.AC=124111;ExAC.Info.AN=126696;ExAC.Info.AF=0.980;ExAC.Info.AC_Het=2038;ExAC.Info.AC_Hom=61030;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1788+28C>T;snpeff.Amino_Acid_length=2241;snpeff.Gene_Name=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368331;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000437809;SAVANT_GENE=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;SAVANT_INFO=-/109.7kb/32/7.7kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1788+28C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GON4L+c.1788+28C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155755097">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:3175,274,0:127	1|1:0,109:109:99:3768,328,0:127	1|1:0,97:97:99:3538,292,0:127
1	155785578	.	CAACT	C	17433.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs148569012;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148569012" target="_blank">rs148569012</a>;ExAC.Info.AC=117178;ExAC.Info.AN=126686;ExAC.Info.AF=0.925;ExAC.Info.AC_Het=7587;ExAC.Info.AC_Hom=54266;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1161+14_1161+17delAGTT;snpeff.Amino_Acid_length=2241;snpeff.Gene_Name=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368331;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000437809;SAVANT_GENE=GON4L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GON4L" target="_blank">GON4L</a>;SAVANT_INFO=-/109.7kb/32/7.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1161+14_1161+17delAGTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GON4L+c.1161+14_1161+17delAGTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155785578">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2712,225,0:127	1|1:0,75:75:99:2829,226,0:127	1|1:0,56:56:99:2215,169,0:127
1	155829511	.	C	T	7640.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3820594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820594" target="_blank">rs3820594</a>;ExAC.Info.AC=41658;ExAC.Info.AN=126702;ExAC.Info.AF=0.329;ExAC.Info.AC_Het=25844;ExAC.Info.AC_Hom=7904;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=42;snpeff.Amino_Acid_Change=c.-42C>T;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368324;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368324;SAVANT_GENE=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;SAVANT_INFO=+/25.7kb/4/5.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-42C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT11+c.-42C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155829511">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,33:63:99:879,0,947:127	0|1:30,33:63:99:926,0,849:127	1|1:0,50:50:99:1607,150,0:127
1	155837865	.	G	C	30764.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs822522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=822522" target="_blank">rs822522</a>;ExAC.Info.AC=125203;ExAC.Info.AN=126704;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1326;ExAC.Info.AC_Hom=61929;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144G>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368324;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144G>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368324;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144G>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368324;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caC;snpeff.Amino_Acid_Change=p.Gln48His/c.144G>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368324;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368324;SAVANT_GENE=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;SAVANT_INFO=+/25.7kb/4/5.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.144G>C_p.Gln48His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT11+c.144G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155837865">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,127:127:99:4408,382,0:127	1|1:0,121:121:99:4498,364,0:127	1|1:0,111:111:99:3862,333,0:127
1	155838267	.	T	C	30214.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs822521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=822521" target="_blank">rs822521</a>;ExAC.Info.AC=124199;ExAC.Info.AN=126704;ExAC.Info.AF=0.980;ExAC.Info.AC_Het=1990;ExAC.Info.AC_Hom=61055;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368324;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368324;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368324;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368324;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His182His/c.546T>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368324;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368324;SAVANT_GENE=SYT11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT11" target="_blank">SYT11</a>;SAVANT_INFO=+/25.7kb/4/5.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.546T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT11+c.546T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155838267">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:4205,346,0:127	1|1:0,131:131:99:4860,393,0:127	1|1:0,113:113:99:4078,340,0:127
1	155870416	.	G	A	26737.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Noonan_syndrome_8|_615355_(3);dbSNP139.ID=rs1749409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1749409" target="_blank">rs1749409</a>;ExAC.Info.AC=111228;ExAC.Info.AN=126696;ExAC.Info.AF=0.878;ExAC.Info.AC_Het=12031;ExAC.Info.AC_Hom=49557;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.481-7C>T;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=RIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIT1" target="_blank">RIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368322;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368323;SAVANT_GENE=RIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIT1" target="_blank">RIT1</a>;SAVANT_INFO=-/13.6kb/6/3.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.430-7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIT1+c.430-7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155870416">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:3987,346,0:127	1|1:0,117:117:99:4240,352,0:127	1|1:0,112:112:99:4031,337,0:127
1	155880391	.	T	C	20308.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Noonan_syndrome_8|_615355_(3);dbSNP139.ID=rs867550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=867550" target="_blank">rs867550</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.157+56A>G;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=RIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIT1" target="_blank">RIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368322;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368323;SAVANT_GENE=RIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIT1" target="_blank">RIT1</a>;SAVANT_INFO=-/13.6kb/6/3.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.106+56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIT1+c.106+56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155880391">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,74:150:99:2174,0,2457:127	0|1:88,78:166:99:2339,0,2909:127	1|1:0,132:132:99:4727,396,0:127
1	155880573	.	C	G	25084.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Noonan_syndrome_8|_615355_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs493446;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=493446" target="_blank">rs493446</a>;ExAC.Info.AC=111221;ExAC.Info.AN=126702;ExAC.Info.AF=0.878;ExAC.Info.AC_Het=12029;ExAC.Info.AC_Hom=49572;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Cag;snpeff.Amino_Acid_Change=p.Glu11Gln/c.31G>C;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=RIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIT1" target="_blank">RIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368322;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368323;SAVANT_GENE=RIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIT1" target="_blank">RIT1</a>;SAVANT_INFO=-/13.6kb/6/3.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-21G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIT1+c.-21G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155880573">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3821,310,0:127	1|1:0,113:113:99:4220,340,0:127	1|1:0,78:78:99:2895,235,0:127
1	155899020	.	A	T	10297.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs539602;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=539602" target="_blank">rs539602</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.464+67T>A;snpeff.Amino_Acid_length=614;snpeff.Gene_Name=KIAA0907;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0907" target="_blank">KIAA0907</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368321;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368321;SAVANT_GENE=KIAA0907;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0907" target="_blank">KIAA0907</a>;SAVANT_INFO=-/21.4kb/14/2.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.464+67T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0907+c.464+67T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155899020">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,55:127:99:1535,0,1988:127	1|0:85,82:167:99:2405,0,2409:127	0|0:139,0:139:99:0,418,4833:127
1	155903408	.	C	T	4421.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4661151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4661151" target="_blank">rs4661151</a>;ExAC.Info.AC=70000;ExAC.Info.AN=126608;ExAC.Info.AF=0.553;ExAC.Info.AC_Het=25316;ExAC.Info.AC_Hom=19468;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.255+16G>A;snpeff.Amino_Acid_length=614;snpeff.Gene_Name=KIAA0907;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0907" target="_blank">KIAA0907</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368321;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368321;SAVANT_GENE=KIAA0907;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0907" target="_blank">KIAA0907</a>;SAVANT_INFO=-/21.4kb/14/2.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.255+16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0907+c.255+16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155903408">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,29:82:99:736,0,1529:127	1|0:56,33:89:99:857,0,1725:127	0|0:86,0:86:99:0,258,2743:127
1	155904177	.	T	C	54213.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=652;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2275079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275079" target="_blank">rs2275079</a>;ExAC.Info.AC=110845;ExAC.Info.AN=126570;ExAC.Info.AF=0.876;ExAC.Info.AC_Het=11844;ExAC.Info.AC_Hom=48176;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=13;snpeff.Amino_Acid_Change=c.-13A>G;snpeff.Amino_Acid_length=614;snpeff.Gene_Name=KIAA0907;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0907" target="_blank">KIAA0907</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368321;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368321;SAVANT_GENE=KIAA0907;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0907" target="_blank">KIAA0907</a>;SAVANT_INFO=-/21.4kb/14/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-13A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0907+c.-13A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155904177">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,214:214:99:7184,643,0:127	1|1:0,235:235:99:8027,705,0:127	1|1:0,203:203:99:6648,610,0:127
1	155912486	.	T	C	28298.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2152051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2152051" target="_blank">rs2152051</a>;ExAC.Info.AC=124124;ExAC.Info.AN=126666;ExAC.Info.AF=0.980;ExAC.Info.AC_Het=2107;ExAC.Info.AC_Hom=60482;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986T>C;snpeff.Amino_Acid_length=374;snpeff.Gene_Name=RXFP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXFP4" target="_blank">RXFP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368318;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTg/tCg;snpeff.Amino_Acid_Change=p.Leu329Ser/c.986T>C;snpeff.Amino_Acid_length=374;snpeff.Gene_Name=RXFP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXFP4" target="_blank">RXFP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368318;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368318;SAVANT_GENE=RXFP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXFP4" target="_blank">RXFP4</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.986T>C_p.Leu329Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RXFP4+c.986T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155912486">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3840,321,0:127	1|1:0,121:121:99:4236,363,0:127	1|1:0,107:107:99:3836,321,0:127
1	155917880	.	T	A	28061.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1010033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1010033" target="_blank">rs1010033</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3023-74A>T;snpeff.Amino_Acid_length=1031;snpeff.Gene_Name=ARHGEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF2" target="_blank">ARHGEF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000462460;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361247;SAVANT_GENE=ARHGEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF2" target="_blank">ARHGEF2</a>;SAVANT_INFO=-/31.7kb/22/4.1kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2888-74A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF2+c.2888-74A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155917880">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,108:109:99:3401,316,0:127	1|1:0,129:129:99:4128,387,0:127	1|1:0,110:110:99:3589,329,0:127
1	155935244	.	C	A	8465.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2297649;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297649" target="_blank">rs2297649</a>;ExAC.Info.AC=38961;ExAC.Info.AN=126690;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=23872;ExAC.Info.AC_Hom=7181;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.606-41G>T;snpeff.Amino_Acid_length=1031;snpeff.Gene_Name=ARHGEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF2" target="_blank">ARHGEF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000462460;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361247;SAVANT_GENE=ARHGEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF2" target="_blank">ARHGEF2</a>;SAVANT_INFO=-/31.7kb/22/4.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.471-41G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF2+c.471-41G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155935244">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,25:53:99:700,0,886:127	0|1:39,29:68:99:839,0,1446:127	1|1:0,56:56:99:1983,168,0:127
1	155955076	.	A	G	10639.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4661216;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4661216" target="_blank">rs4661216</a>;ExAC.Info.AC=16127;ExAC.Info.AN=16130;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=6845;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64+47T>C;snpeff.Amino_Acid_length=1031;snpeff.Gene_Name=ARHGEF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF2" target="_blank">ARHGEF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000462460;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF2" target="_blank">ARHGEF2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:155955076">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1662,135,0:113	1|1:0,52:52:99:1818,156,0:113	1|1:0,38:38:99:1241,114,0:113
1	156011444	.	T	C	4150.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=69.84;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2297792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297792" target="_blank">rs2297792</a>;ExAC.Info.AC=63785;ExAC.Info.AN=124582;ExAC.Info.AF=0.512;ExAC.Info.AC_Het=19705;ExAC.Info.AC_Hom=12254;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atA/atG;snpeff.Amino_Acid_Change=p.Ile495Met/c.1485A>G;snpeff.Amino_Acid_length=601;snpeff.Gene_Name=UBQLN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBQLN4" target="_blank">UBQLN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368309;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368309;SAVANT_GENE=UBQLN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBQLN4" target="_blank">UBQLN4</a>;SAVANT_INFO=-/18.5kb/11/3.6kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1485A>G_p.Ile495Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBQLN4+c.1485A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156011444">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,34:54:99:1039,0,502:127	1|0:41,30:71:99:843,0,1140:127	0|0:87,0:87:99:0,261,2835:127
1	156104292	.	G	A	5727.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Emery-Dreifuss_muscular_dystrophy_2|_AD|_181350_(3)|_Cardiomyopathy|_dilated|_1A|_115200_(3)|_Lipodystrophy|_familial_partial|_2|_151660_(3)|_Emery-Dreifuss_muscular_dystrophy_3|_AR|_181350_(3)|_Charcot-Marie-Tooth_disease|_type_2B1|_605588_(3)|_Muscular_dystrophy|_congenital|_613205_(3)|_Muscular_dystrophy|_limb-girdle|_type_1B|_159001_(3)|_Mandibuloacral_dysplasia|_248370_(3)|_Hutchinson-Gilford_progeria|_176670_(3)|_Restrictive_dermopathy|_lethal|_275210_(3)|_Heart-hand_syndrome|_Slovenian_type|_610140_(3)|_Malouf_syndrome|_212112_(3);dbSNP139.ID=rs12117552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12117552" target="_blank">rs12117552</a>;ExAC.Info.AC=1225;ExAC.Info.AN=126698;ExAC.Info.AF=9.669e-03;ExAC.Info.AC_Het=1195;ExAC.Info.AC_Hom=15;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000057430|RCV000041356;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[region_of_interest:Coil_1B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612G>A;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Coil_1B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612G>A;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Coil_1B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612G>A;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Coil_1B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612G>A;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612G>A;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612G>A;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612G>A;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612G>A;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612G>A;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612G>A;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu204Leu/c.612G>A;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368300;SAVANT_GENE=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;SAVANT_INFO=+/25.4kb/12/3.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.612G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMNA+c.612G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156104292">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000057430%20OR%20RCV000041356" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:33,40:73:99:1295,0,1103:127	1|0:56,40:96:99:1238,0,1914:127	0|0:80,0:80:99:0,241,3137:127
1	156107534	.	C	T	3152.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Emery-Dreifuss_muscular_dystrophy_2|_AD|_181350_(3)|_Cardiomyopathy|_dilated|_1A|_115200_(3)|_Lipodystrophy|_familial_partial|_2|_151660_(3)|_Emery-Dreifuss_muscular_dystrophy_3|_AR|_181350_(3)|_Charcot-Marie-Tooth_disease|_type_2B1|_605588_(3)|_Muscular_dystrophy|_congenital|_613205_(3)|_Muscular_dystrophy|_limb-girdle|_type_1B|_159001_(3)|_Mandibuloacral_dysplasia|_248370_(3)|_Hutchinson-Gilford_progeria|_176670_(3)|_Restrictive_dermopathy|_lethal|_275210_(3)|_Heart-hand_syndrome|_Slovenian_type|_610140_(3)|_Malouf_syndrome|_212112_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs4641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4641" target="_blank">rs4641</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Metabolic_syndrome|_association_with;hgmd_2014.2.OMIM_ID=150330;hgmd_2014.2.PubMed=15205219;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15205219" target="_blank">15205219</a>;ExAC.Info.AC=11665;ExAC.Info.AN=71438;ExAC.Info.AF=0.163;ExAC.Info.AC_Het=4423;ExAC.Info.AC_Hom=829;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1698C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1698C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1698C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1698C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1698C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1698C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1698C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His566His/c.1698C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1698C>T;snpeff.Amino_Acid_length=664;snpeff.Gene_Name=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368300;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368300;SAVANT_GENE=LMNA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMNA" target="_blank">LMNA</a>;SAVANT_INFO=+/25.4kb/12/3.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1698C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMNA+c.1698C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156107534">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,12:21:99:332,0,275:80	0|0:27,0:27:81:0,81,960:80	1|1:0,30:30:90:1111,90,0:80
1	156128220	.	T	C	8657.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Retinitis_pigmentosa_35|_610282_(3)|_Cone-rod_dystrophy_10|_610283_(3);dbSNP139.ID=rs56271605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56271605" target="_blank">rs56271605</a>;ExAC.Info.AC=65;ExAC.Info.AN=126704;ExAC.Info.AF=5.130e-04;ExAC.Info.AC_Het=65;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn135Asn/c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[glycosylation_site:N-linked__GlcNAc..._];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.405T>C;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368285;SAVANT_GENE=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;SAVANT_INFO=+/24.2kb/15/3.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.405T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA4A+c.405T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156128220">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,51:129:99:1341,0,2101:127	1|0:67,67:134:99:1906,0,1834:127	0|0:111,0:111:99:0,333,3840:127
1	156146218	.	C	T	16231.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=719;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Retinitis_pigmentosa_35|_610282_(3)|_Cone-rod_dystrophy_10|_610283_(3);dbSNP139.ID=rs12401573;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12401573" target="_blank">rs12401573</a>;ExAC.Info.AC=66625;ExAC.Info.AN=126704;ExAC.Info.AF=0.526;ExAC.Info.AC_Het=29973;ExAC.Info.AC_Hom=18258;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro572Pro/c.1716C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368285;SAVANT_GENE=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;SAVANT_INFO=+/24.2kb/15/3.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1716C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA4A+c.1716C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156146218">View</a>	GT:AD:DP:GQ:PL:TP	0|1:88,116:204:99:3214,0,2453:127	1|0:158,152:310:99:4180,0,4645:127	0|0:205,0:205:99:0,617,7606:127
1	156146546	.	C	T	5620.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=519;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Retinitis_pigmentosa_35|_610282_(3)|_Cone-rod_dystrophy_10|_610283_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76381440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76381440" target="_blank">rs76381440</a>;ExAC.Info.AC=1157;ExAC.Info.AN=126696;ExAC.Info.AF=9.132e-03;ExAC.Info.AC_Het=1139;ExAC.Info.AC_Hom=9;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro682Ser/c.2044C>T;snpeff.Amino_Acid_length=761;snpeff.Gene_Name=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355014;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368285;SAVANT_GENE=SEMA4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4A" target="_blank">SEMA4A</a>;SAVANT_INFO=+/24.2kb/15/3.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2044C>T_p.Pro682Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA4A+c.2044C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156146546">View</a>	GT:AD:DP:GQ:PL:TP	0|0:148,0:148:99:0,444,5357:127	0|0:198,0:198:99:0,594,6812:127	0|1:75,98:173:99:2829,0,2097:127
1	156195482	.	G	T	2775.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72708297;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72708297" target="_blank">rs72708297</a>;ExAC.Info.AC=80;ExAC.Info.AN=104092;ExAC.Info.AF=7.686e-04;ExAC.Info.AC_Het=29;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.162-6629G>T;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=PMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMF1" target="_blank">PMF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567140;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.162-6629G>T;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=PMF1-BGLAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMF1" target="_blank">PMF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368276;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368276;SAVANT_GENE=PMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMF1" target="_blank">PMF1</a>;SAVANT_INFO=+/30.3kb/7/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.162-6629G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PMF1+c.162-6629G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156195482">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,26:55:99:681,0,837:127	0|0:63,0:63:99:0,189,2110:127	1|0:27,15:42:99:389,0,841:127
1	156202173	.	A	G	12603.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1052053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052053" target="_blank">rs1052053</a>;ExAC.Info.AC=48732;ExAC.Info.AN=126704;ExAC.Info.AF=0.385;ExAC.Info.AC_Het=28848;ExAC.Info.AC_Hom=9982;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln75Arg/c.224A>G;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=PMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMF1" target="_blank">PMF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567140;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln75Arg/c.224A>G;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=PMF1-BGLAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMF1" target="_blank">PMF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368276;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368276;SAVANT_GENE=PMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMF1" target="_blank">PMF1</a>;SAVANT_INFO=+/30.3kb/7/0.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.224A>G_p.Gln75Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PMF1+c.224A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156202173">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:1952,186,0:127	1|0:31,50:81:99:1349,0,910:127	1|0:38,27:65:99:735,0,1145:127
1	156206121	.	G	A	5280.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1052067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052067" target="_blank">rs1052067</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=29746;ExAC.Info.AN=126696;ExAC.Info.AF=0.235;ExAC.Info.AC_Het=22295;ExAC.Info.AC_Hom=3714;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369-19G>A;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=PMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMF1" target="_blank">PMF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000567140;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369-19G>A;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=PMF1-BGLAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMF1" target="_blank">PMF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368276;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368276;SAVANT_GENE=PMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMF1" target="_blank">PMF1</a>;SAVANT_INFO=+/30.3kb/7/0.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.369-19G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PMF1+c.369-19G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156206121">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,44:87:99:1136,0,1245:127	0|0:96,0:96:99:0,288,3425:127	1|0:37,32:69:99:859,0,1023:127
1	156215562	.	G	A	1868.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2075166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075166" target="_blank">rs2075166</a>;ExAC.Info.AC=28448;ExAC.Info.AN=124418;ExAC.Info.AF=0.229;ExAC.Info.AC_Het=13968;ExAC.Info.AC_Hom=2307;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.569+11C>T;snpeff.Amino_Acid_length=363;snpeff.Gene_Name=PAQR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAQR6" target="_blank">PAQR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340183;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000335852;SAVANT_GENE=PAQR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAQR6" target="_blank">PAQR6</a>;SAVANT_INFO=-/4.6kb/7/2.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.67+11C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAQR6+c.67+11C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156215562">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2344:127	0|0:76,0:76:99:0,228,2747:127	0|1:26,35:61:99:953,0,753:127
1	156215899	.	G	A	1150.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2075165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075165" target="_blank">rs2075165</a>;ExAC.Info.AC=64023;ExAC.Info.AN=126536;ExAC.Info.AF=0.506;ExAC.Info.AC_Het=30227;ExAC.Info.AC_Hom=16378;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser81Ser/c.243C>T;snpeff.Amino_Acid_length=363;snpeff.Gene_Name=PAQR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAQR6" target="_blank">PAQR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340183;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000335852;SAVANT_GENE=PAQR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAQR6" target="_blank">PAQR6</a>;SAVANT_INFO=-/4.6kb/7/2.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-260C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAQR6+c.-260C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156215899">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,1:61:99:0,144,1952:127	0|0:58,0:58:99:0,174,1875:127	0|1:34,22:56:99:594,0,1024:127
1	156233189	.	C	T	912.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2273833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273833" target="_blank">rs2273833</a>;ExAC.Info.AC=32861;ExAC.Info.AN=126690;ExAC.Info.AF=0.259;ExAC.Info.AC_Het=23691;ExAC.Info.AC_Hom=4516;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala676Ala/c.2028G>A;snpeff.Amino_Acid_length=1016;snpeff.Gene_Name=SMG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG5" target="_blank">SMG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361813;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361813;SAVANT_GENE=SMG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG5" target="_blank">SMG5</a>;SAVANT_INFO=-/33.6kb/22/4.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2028G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMG5+c.2028G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156233189">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2319:127	0|0:70,0:70:99:0,211,2657:127	0|1:26,19:45:99:475,0,810:127
1	156244559	.	G	A	1888.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12122180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12122180" target="_blank">rs12122180</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.455-82C>T;snpeff.Amino_Acid_length=1016;snpeff.Gene_Name=SMG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG5" target="_blank">SMG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361813;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361813;SAVANT_GENE=SMG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG5" target="_blank">SMG5</a>;SAVANT_INFO=-/33.6kb/22/4.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.455-82C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMG5+c.455-82C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156244559">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1934:127	0|0:67,0:67:99:0,201,2504:127	0|1:33,37:70:99:963,0,839:127
1	156255456	.	G	A	3486.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=464;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6684514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6684514" target="_blank">rs6684514</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Atopic_dermatitis|_protection_against;hgmd_2014.2.OMIM_ID=615531;hgmd_2014.2.PubMed=24084074;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24084074" target="_blank">24084074</a>;ExAC.Info.AC=33901;ExAC.Info.AN=126692;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=24207;ExAC.Info.AC_Hom=4773;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val147Met/c.439G>A;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=TMEM79;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM79" target="_blank">TMEM79</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000405535;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000405535;SAVANT_GENE=TMEM79;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM79" target="_blank">TMEM79</a>;SAVANT_INFO=+/8.2kb/4/2.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.439G>A_p.Val147Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM79+c.439G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156255456">View</a>	GT:AD:DP:GQ:PL:TP	0|0:150,0:150:99:0,450,5140:127	0|0:165,0:165:99:0,495,5642:127	0|1:84,65:149:99:1762,0,2439:127
1	156263097	.	A	G	2552.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10908494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10908494" target="_blank">rs10908494</a>;ExAC.Info.AC=34044;ExAC.Info.AN=126698;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=24393;ExAC.Info.AC_Hom=4803;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1055+14T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056A>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056A>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056A>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056A>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056A>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056A>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362007;SAVANT_GENE=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;SAVANT_INFO=-/3.0kb/6/1.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1055+14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf85+c.1055+14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156263097">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,264,3051:127	0|0:109,0:109:99:0,326,3750:127	0|1:43,43:86:99:1295,0,1258:127
1	156263940	.	T	C	1322.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10908495;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10908495" target="_blank">rs10908495</a>;ExAC.Info.AC=34034;ExAC.Info.AN=126704;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=24388;ExAC.Info.AC_Hom=4806;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile223Val/c.667A>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362007;SAVANT_GENE=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;SAVANT_INFO=-/3.0kb/6/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.667A>G_p.Ile223Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf85+c.667A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156263940">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1395:123	0|0:66,0:66:99:0,198,2479:123	0|1:23,22:45:99:680,0,717:123
1	156264000	.	G	A	2128.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10908496;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10908496" target="_blank">rs10908496</a>;ExAC.Info.AC=33629;ExAC.Info.AN=126676;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=24063;ExAC.Info.AC_Hom=4685;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.607G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.607G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.607G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.607G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.607G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.607G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Tca;snpeff.Amino_Acid_Change=p.Pro203Ser/c.607C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362007;SAVANT_GENE=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;SAVANT_INFO=-/3.0kb/6/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.607C>T_p.Pro203Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf85+c.607C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156264000">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2373:127	0|0:116,0:116:99:0,348,3979:127	0|1:44,40:84:99:1083,0,1283:127
1	156264648	.	C	T	4684.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1570805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1570805" target="_blank">rs1570805</a>;ExAC.Info.AC=10332;ExAC.Info.AN=126696;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=9253;ExAC.Info.AC_Hom=525;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val94Ile/c.280G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362007;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362007;SAVANT_GENE=C1orf85;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf85" target="_blank">C1orf85</a>;SAVANT_INFO=-/3.0kb/6/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.280G>A_p.Val94Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf85+c.280G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156264648">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,30:53:99:807,0,604:127	1|0:40,37:77:99:1134,0,1114:127	0|0:63,0:63:99:0,189,2117:127
1	156279176	.	G	C	1974.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10908499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10908499" target="_blank">rs10908499</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1534-82C>G;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=CCT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCT3" target="_blank">CCT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295688;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295688;SAVANT_GENE=CCT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCT3" target="_blank">CCT3</a>;SAVANT_INFO=-/29.5kb/14/2.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1534-82C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCT3+c.1534-82C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156279176">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,234,2823:127	0|0:88,0:88:99:0,265,3215:127	0|1:37,34:71:99:1006,0,1163:127
1	156281020	.	G	C	2598.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12132794;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12132794" target="_blank">rs12132794</a>;ExAC.Info.AC=33475;ExAC.Info.AN=126636;ExAC.Info.AF=0.264;ExAC.Info.AC_Het=23571;ExAC.Info.AC_Hom=4634;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1156-34C>G;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=CCT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCT3" target="_blank">CCT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295688;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295688;SAVANT_GENE=CCT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCT3" target="_blank">CCT3</a>;SAVANT_INFO=-/29.5kb/14/2.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1156-34C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCT3+c.1156-34C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156281020">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2309:127	0|0:78,0:78:99:0,234,2862:127	0|1:33,41:74:99:1318,0,960:127
1	156287360	.	C	T	694.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2249790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2249790" target="_blank">rs2249790</a>;ExAC.Info.AC=32256;ExAC.Info.AN=126680;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=23016;ExAC.Info.AC_Hom=4538;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.760-22G>A;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=CCT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCT3" target="_blank">CCT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295688;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295688;SAVANT_GENE=CCT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCT3" target="_blank">CCT3</a>;SAVANT_INFO=-/29.5kb/14/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.760-22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCT3+c.760-22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156287360">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1421:98	0|1:18,14:32:99:366,0,579:98	0|0:33,0:33:99:0,99,1137:98
1	156314349	.	G	A	4005.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72710226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72710226" target="_blank">rs72710226</a>;ExAC.Info.AC=191;ExAC.Info.AN=126704;ExAC.Info.AF=1.507e-03;ExAC.Info.AC_Het=190;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CCT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCT3" target="_blank">CCT3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.35-22G>A;snpeff.Amino_Acid_length=125;snpeff.Gene_Name=TSACC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCT3" target="_blank">CCT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368253;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368255;SAVANT_GENE=C1orf182;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf182" target="_blank">C1orf182</a>;SAVANT_INFO=+/9.7kb/4/0.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.35-22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf182+c.35-22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156314349">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,339,4001:127	0|1:87,77:164:99:2022,0,2577:127	0|0:145,0:145:99:0,436,5193:127
1	156347131	.	G	A	9934.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=D|D|D|D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs2245623;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2245623" target="_blank">rs2245623</a>;ExAC.Info.AC=47513;ExAC.Info.AN=126698;ExAC.Info.AF=0.375;ExAC.Info.AC_Het=27720;ExAC.Info.AC_Hom=9873;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gAc;snpeff.Amino_Acid_Change=p.Gly76Asp/c.227G>A;snpeff.Amino_Acid_length=457;snpeff.Gene_Name=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368246;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368246;SAVANT_GENE=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;SAVANT_INFO=+/16.0kb/11/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.227G>A_p.Gly76Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHBG+c.227G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156347131">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,54:114:99:1386,0,1837:127	0|0:130,0:130:99:0,391,4442:127	1|1:0,76:76:99:2679,229,0:127
1	156351066	.	C	A	5086.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs942679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=942679" target="_blank">rs942679</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.674-72C>A;snpeff.Amino_Acid_length=457;snpeff.Gene_Name=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368246;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368246;SAVANT_GENE=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;SAVANT_INFO=+/16.0kb/11/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.674-72C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHBG+c.674-72C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156351066">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,31:64:99:862,0,988:93	0|0:77,0:77:99:0,231,2880:93	1|1:0,31:31:93:1151,93,0:93
1	156351699	.	G	A	7409.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748569" target="_blank">rs3748569</a>;ExAC.Info.AC=60009;ExAC.Info.AN=125586;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=30184;ExAC.Info.AC_Hom=14841;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly315Arg/c.943G>A;snpeff.Amino_Acid_length=457;snpeff.Gene_Name=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368246;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368246;SAVANT_GENE=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;SAVANT_INFO=+/16.0kb/11/1.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.943G>A_p.Gly315Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHBG+c.943G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156351699">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,47:92:99:1233,0,1290:127	1|0:55,51:106:99:1414,0,1591:127	0|0:101,1:102:99:0,270,3560:127
1	156351792	.	G	A	6769.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=237;MQ=69.95;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3748568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748568" target="_blank">rs3748568</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.978+58G>A;snpeff.Amino_Acid_length=457;snpeff.Gene_Name=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368246;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368246;SAVANT_GENE=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;SAVANT_INFO=+/16.0kb/11/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.978+58G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHBG+c.978+58G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156351792">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,47:77:99:1282,0,797:127	1|0:43,54:97:99:1520,0,1159:127	0|0:62,1:63:99:0,150,2296:127
1	156354293	.	A	G	12508.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6668731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6668731" target="_blank">rs6668731</a>;ExAC.Info.AC=39912;ExAC.Info.AN=125364;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=25582;ExAC.Info.AC_Hom=7075;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1235-25A>G;snpeff.Amino_Acid_length=457;snpeff.Gene_Name=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368246;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368246;SAVANT_GENE=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;SAVANT_INFO=+/16.0kb/11/1.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1235-25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHBG+c.1235-25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156354293">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,58:103:99:1681,0,1176:127	1|1:1,106:107:99:3897,278,0:127	0|0:80,0:80:99:0,240,2962:127
1	156354347	.	TC	T	9905.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11303415;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11303415" target="_blank">rs11303415</a>;cosmic68.Histology_subtype=serous_carcinoma;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1263+2delC;snpeff.Amino_Acid_length=457;snpeff.Gene_Name=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368246;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1264delC;snpeff.Amino_Acid_length=457;snpeff.Gene_Name=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368246;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.1264delC;snpeff.Amino_Acid_length=457;snpeff.Gene_Name=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368246;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;LOF=(RHBG|ENSG00000132677|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000368246;SAVANT_GENE=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;SAVANT_INFO=+/16.0kb/11/1.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1268delC;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHBG+c.1268delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156354347">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,50:91:99:1249,0,970:127	1|1:0,102:102:99:3096,306,0:127	0|0:68,0:68:99:0,204,2060:127
1	156354367	.	A	G	10589.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6668857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6668857" target="_blank">rs6668857</a>;ExAC.Info.AC=75845;ExAC.Info.AN=125284;ExAC.Info.AF=0.605;ExAC.Info.AC_Het=26889;ExAC.Info.AC_Hom=23360;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His427Arg/c.1280A>G;snpeff.Amino_Acid_length=457;snpeff.Gene_Name=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368246;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368246;SAVANT_GENE=RHBG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHBG" target="_blank">RHBG</a>;SAVANT_INFO=+/16.0kb/11/1.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1280A>G_p.His427Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHBG+c.1280A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156354367">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,44:89:99:1256,0,1187:127	1|1:0,106:106:99:3416,317,0:127	0|0:70,0:70:99:0,209,2310:127
1	156446242	.	C	A	10272.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2274316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274316" target="_blank">rs2274316</a>;ExAC.Info.AC=77260;ExAC.Info.AN=126524;ExAC.Info.AF=0.611;ExAC.Info.AC_Het=25510;ExAC.Info.AC_Hom=22001;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.876+44G>T;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=MEF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEF2D" target="_blank">MEF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000348159;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348159;SAVANT_GENE=MEF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEF2D" target="_blank">MEF2D</a>;SAVANT_INFO=-/37.1kb/12/6.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.876+44G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEF2D+c.876+44G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156446242">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1512,135,0:116	1|1:0,40:40:99:1445,120,0:116	1|1:0,40:40:99:1386,120,0:116
1	156446903	.	T	C	20087.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2274317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274317" target="_blank">rs2274317</a>;ExAC.Info.AC=78622;ExAC.Info.AN=126702;ExAC.Info.AF=0.621;ExAC.Info.AC_Het=28149;ExAC.Info.AC_Hom=25220;snpeff.Effect=sequence_feature[compositionally_biased_region:Poly-Pro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.756T>C;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=MEF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEF2D" target="_blank">MEF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000348159;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro252Pro/c.756A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=MEF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEF2D" target="_blank">MEF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000348159;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348159;SAVANT_GENE=MEF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEF2D" target="_blank">MEF2D</a>;SAVANT_INFO=-/37.1kb/12/6.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.756A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEF2D+c.756A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156446903">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2154,180,0:127	1|1:0,95:95:99:3219,285,0:127	1|1:0,81:81:99:2748,243,0:127
1	156450740	.	G	A	8089.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1925950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1925950" target="_blank">rs1925950</a>;ExAC.Info.AC=78538;ExAC.Info.AN=126634;ExAC.Info.AF=0.620;ExAC.Info.AC_Het=27927;ExAC.Info.AC_Hom=25089;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn94Asn/c.282C>T;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=MEF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEF2D" target="_blank">MEF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000348159;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348159;SAVANT_GENE=MEF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEF2D" target="_blank">MEF2D</a>;SAVANT_INFO=-/37.1kb/12/6.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.282C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEF2D+c.282C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156450740">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:519,57,0:110	1|1:0,37:37:99:1286,111,0:110	1|1:0,39:39:99:1172,117,0:110
1	156496188	.	A	G	55890.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=697;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6427315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427315" target="_blank">rs6427315</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=90;snpeff.Amino_Acid_Change=c.*90T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*90T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.*90T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156496188">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,233:233:99:8316,700,0:127	1|1:0,265:265:99:9598,796,0:127	1|1:0,199:199:99:7000,598,0:127
1	156498673	.	T	A	17966.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1171564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1171564" target="_blank">rs1171564</a>;ExAC.Info.AC=53185;ExAC.Info.AN=126688;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=27488;ExAC.Info.AC_Hom=12707;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4571+35A>T;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.4571+35A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.4571+35A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156498673">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2247,195,0:127	1|1:0,75:75:99:2655,225,0:127	1|1:0,62:62:99:2257,186,0:127
1	156499969	.	T	C	27252.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1171566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1171566" target="_blank">rs1171566</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=53447;ExAC.Info.AN=126582;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=26469;ExAC.Info.AC_Hom=11949;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu1444Leu/c.4332A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.4332A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.4332A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156499969">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3444,280,0:127	1|1:0,115:115:99:4244,345,0:127	1|1:0,111:111:99:4147,334,0:127
1	156500128	.	T	C	23438.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs746505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=746505" target="_blank">rs746505</a>;ExAC.Info.AC=36402;ExAC.Info.AN=126444;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=21406;ExAC.Info.AC_Hom=5820;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4192-19A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.4192-19A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.4192-19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156500128">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2690,246,0:127	1|1:0,106:106:99:3602,318,0:127	1|1:0,97:97:99:3380,291,0:127
1	156503541	.	T	C	8273.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6699212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6699212" target="_blank">rs6699212</a>;ExAC.Info.AC=126069;ExAC.Info.AN=126642;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=489;ExAC.Info.AC_Hom=60028;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3976+24A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In31/32;SAVANT_HGVS=c.3976+24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.3976+24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156503541">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1661,147,0:83	1|1:0,34:34:99:1265,102,0:83	1|1:0,28:28:84:1061,84,0:83
1	156505061	.	C	T	10440.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs942965;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=942965" target="_blank">rs942965</a>;ExAC.Info.AC=34123;ExAC.Info.AN=126630;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=22310;ExAC.Info.AC_Hom=5543;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3423-22G>A;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423C>T;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423C>T;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423C>T;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423C>T;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423C>T;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3423-22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.3423-22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156505061">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1556,150,0:92	1|1:0,45:45:99:1709,135,0:92	1|1:0,31:31:93:1160,93,0:92
1	156508477	.	G	A	39321.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=519;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1177696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1177696" target="_blank">rs1177696</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3281+124C>T;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3282G>A;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3282G>A;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3282G>A;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3282G>A;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3282G>A;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3281+124C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.3281+124C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156508477">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,167:167:99:5651,502,0:127	1|1:0,188:188:99:6319,565,0:127	1|1:0,164:164:99:5608,493,0:127
1	156518379	.	G	A	19758.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs744224;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=744224" target="_blank">rs744224</a>;ExAC.Info.AC=42878;ExAC.Info.AN=126632;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=26190;ExAC.Info.AC_Hom=7883;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg663Cys/c.1987C>T;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1987C>T_p.Arg663Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.1987C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156518379">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1923,171,0:127	1|1:0,98:98:99:3305,294,0:127	1|1:0,79:79:99:2678,237,0:127
1	156520173	.	T	A	18910.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1778819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1778819" target="_blank">rs1778819</a>;ExAC.Info.AC=126106;ExAC.Info.AN=126640;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=467;ExAC.Info.AC_Hom=59474;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1735-30A>T;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1735-30A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.1735-30A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156520173">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2247,204,0:127	1|1:0,87:87:99:3001,261,0:127	1|1:0,67:67:99:2456,201,0:127
1	156524221	.	G	T	35107.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6694580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6694580" target="_blank">rs6694580</a>;ExAC.Info.AC=45092;ExAC.Info.AN=126422;ExAC.Info.AF=0.357;ExAC.Info.AC_Het=25977;ExAC.Info.AC_Hom=7953;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1291-37C>A;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1291-37C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.1291-37C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156524221">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,134:134:99:4710,403,0:127	1|1:0,161:161:99:5649,483,0:127	1|1:1,138:139:99:4958,376,0:127
1	156526444	.	T	C	31826.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2488269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2488269" target="_blank">rs2488269</a>;ExAC.Info.AC=125054;ExAC.Info.AN=126582;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1298;ExAC.Info.AC_Hom=61300;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg391Gly/c.1171A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1171A>G_p.Arg391Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.1171A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156526444">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3726,324,0:127	1|1:0,140:140:99:4864,421,0:127	1|1:0,125:125:99:4407,376,0:127
1	156531871	.	A	G	12377.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1171545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1171545" target="_blank">rs1171545</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.878-78T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.878-78T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.878-78T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156531871">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1762,144,0:104	1|1:0,63:63:99:2239,189,0:104	1|1:0,35:35:99:1314,105,0:104
1	156532977	.	T	C	29867.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1171547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1171547" target="_blank">rs1171547</a>;ExAC.Info.AC=125180;ExAC.Info.AN=126698;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1316;ExAC.Info.AC_Hom=61835;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln249Gln/c.747A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.747A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.747A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156532977">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:3099,241,0:127	1|1:0,133:133:99:5242,400,0:127	1|1:0,118:118:99:4428,355,0:127
1	156536123	.	T	C	26983.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2066378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066378" target="_blank">rs2066378</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.282+59A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.282+59A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.282+59A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156536123">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:3391,232,0:127	1|1:0,88:88:99:3958,271,0:127	1|1:0,80:80:99:3556,244,0:127
1	156536133	.	A	G	28036.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4382715;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4382715" target="_blank">rs4382715</a>;ExAC.Info.AC=125106;ExAC.Info.AN=126638;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1317;ExAC.Info.AC_Hom=60712;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.282+49T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.282+49T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.282+49T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156536133">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:3379,232,0:127	1|1:0,94:94:99:4118,289,0:127	1|1:0,83:83:99:3711,259,0:127
1	156536221	.	G	C	18024.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2066377;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066377" target="_blank">rs2066377</a>;ExAC.Info.AC=125187;ExAC.Info.AN=126704;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1315;ExAC.Info.AC_Hom=61888;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro81Pro/c.243C>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.243C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.243C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156536221">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2275,201,0:127	1|1:0,83:83:99:3016,249,0:127	1|1:0,60:60:99:2173,180,0:127
1	156536251	.	T	C	17336.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs947662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=947662" target="_blank">rs947662</a>;ExAC.Info.AC=125186;ExAC.Info.AN=126704;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1315;ExAC.Info.AC_Hom=61874;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu71Leu/c.213A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.213A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.213A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156536251">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2225,183,0:127	1|1:0,80:80:99:2852,240,0:127	1|1:0,52:52:99:1972,156,0:127
1	156536353	.	A	G	14567.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs947663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=947663" target="_blank">rs947663</a>;ExAC.Info.AC=125153;ExAC.Info.AN=126682;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1294;ExAC.Info.AC_Hom=61284;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.126-15T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.126-15T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.126-15T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156536353">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2097,177,0:116	1|1:0,65:65:99:2347,195,0:116	1|1:0,39:39:99:1304,117,0:116
1	156539019	.	CA	C	14878.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11332475;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11332475" target="_blank">rs11332475</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125+148delT;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126delA;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126delA;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126delA;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126delA;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126delA;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.125+148delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.125+148delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156539019">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,65:66:99:1761,171,0:127	1|1:1,88:89:99:2328,240,0:127	1|1:0,88:88:99:2413,264,0:127
1	156539154	.	T	C	25623.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6427319;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427319" target="_blank">rs6427319</a>;ExAC.Info.AC=126031;ExAC.Info.AN=126666;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=546;ExAC.Info.AC_Hom=60025;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125+14A>G;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126T>C;snpeff.Amino_Acid_length=1631;snpeff.Gene_Name=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361170;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361170;SAVANT_GENE=IQGAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP3" target="_blank">IQGAP3</a>;SAVANT_INFO=-/47.1kb/38/6.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.125+14A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IQGAP3+c.125+14A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156539154">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3710,310,0:127	1|1:0,114:114:99:4031,343,0:127	1|1:0,105:105:99:3707,316,0:127
1	156553102	.	AG	A	11563.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs34924172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34924172" target="_blank">rs34924172</a>;ExAC.Info.AC=34624;ExAC.Info.AN=125146;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=22970;ExAC.Info.AC_Hom=5391;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1040-27delG;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=TTC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC24" target="_blank">TTC24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368236;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368236;SAVANT_GENE=TTC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC24" target="_blank">TTC24</a>;SAVANT_INFO=+/7.0kb/11/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1040-26delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC24+c.1040-26delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156553102">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1538,126,0:127	1|1:0,45:45:99:1641,136,0:127	1|1:0,44:44:99:1585,132,0:127
1	156553501	.	T	C	1229.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1153-88T>C;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=TTC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC24" target="_blank">TTC24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368236;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368236;SAVANT_GENE=TTC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC24" target="_blank">TTC24</a>;SAVANT_INFO=+/7.0kb/11/2.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1153-88T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC24+c.1153-88T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156553501">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,15:59:99:130,0,1198:103	0/1:48,19:67:99:237,0,1265:103	0/1:44,19:63:99:104,0,1123:103
1	156556321	.	G	A	12809.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10796961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10796961" target="_blank">rs10796961</a>;ExAC.Info.AC=114146;ExAC.Info.AN=125028;ExAC.Info.AF=0.913;ExAC.Info.AC_Het=6550;ExAC.Info.AC_Hom=53126;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser576Ser/c.1728G>A;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=TTC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC24" target="_blank">TTC24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368236;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368236;SAVANT_GENE=TTC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC24" target="_blank">TTC24</a>;SAVANT_INFO=+/7.0kb/11/2.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1728G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC24+c.1728G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156556321">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1655,141,0:127	1|1:0,49:49:99:1744,147,0:127	1|1:0,44:44:99:1655,132,0:127
1	156561557	.	G	GGGGTCGGGCC	9744.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=82;MQ=71.26;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs149629319;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149629319" target="_blank">rs149629319</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39;snpeff.Amino_Acid_Change=c.-39_-40insGGGTCGGGCC;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368235;SAVANT_GENE=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;SAVANT_INFO=+/2.5kb/6/1.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-37_-36insTCGGGCCGGG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=APOA1BP+c.-37_-36insTCGGGCCGGG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156561557">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:96:1344,96,0:83	1|1:0,30:30:99:1435,99,0:83	1|1:0,24:24:84:1243,84,0:83
1	156561651	.	G	C	21208.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7516274;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7516274" target="_blank">rs7516274</a>;ExAC.Info.AC=117113;ExAC.Info.AN=122492;ExAC.Info.AF=0.956;ExAC.Info.AC_Het=4546;ExAC.Info.AC_Hom=52604;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.55G>C;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ctg;snpeff.Amino_Acid_Change=p.Val19Leu/c.55G>C;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368235;SAVANT_GENE=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;SAVANT_INFO=+/2.5kb/6/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.55G>C_p.Val19Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APOA1BP+c.55G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156561651">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2433,195,0:127	1|1:0,78:78:99:2818,234,0:127	1|1:0,66:66:99:2341,198,0:127
1	156563375	.	G	A	16075.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6427321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427321" target="_blank">rs6427321</a>;ExAC.Info.AC=121063;ExAC.Info.AN=126700;ExAC.Info.AF=0.956;ExAC.Info.AC_Het=5224;ExAC.Info.AC_Hom=57760;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.664+28G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.665G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.665G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.665G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.665G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.665G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368235;SAVANT_GENE=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;SAVANT_INFO=+/2.5kb/6/1.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.664+28G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APOA1BP+c.664+28G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156563375">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1711,150,0:127	1|1:0,66:66:99:2205,198,0:127	1|1:0,73:73:99:2479,219,0:127
1	156563726	.	A	C	13610.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6427322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427322" target="_blank">rs6427322</a>;ExAC.Info.AC=121086;ExAC.Info.AN=126704;ExAC.Info.AF=0.956;ExAC.Info.AC_Het=5233;ExAC.Info.AC_Hom=57923;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717A>C;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717A>C;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717A>C;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717A>C;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717A>C;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atA/atC;snpeff.Amino_Acid_Change=p.Ile239Ile/c.717A>C;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368235;SAVANT_GENE=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;SAVANT_INFO=+/2.5kb/6/1.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.717A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APOA1BP+c.717A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156563726">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1641,141,0:127	1|1:0,72:72:99:2473,216,0:127	1|1:0,45:45:99:1642,135,0:127
1	156563813	.	G	A	12795.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6668178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6668178" target="_blank">rs6668178</a>;ExAC.Info.AC=121085;ExAC.Info.AN=126704;ExAC.Info.AF=0.956;ExAC.Info.AC_Het=5235;ExAC.Info.AC_Hom=57924;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:YjeF_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu268Glu/c.804G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368235;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368235;SAVANT_GENE=APOA1BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA1BP" target="_blank">APOA1BP</a>;SAVANT_INFO=+/2.5kb/6/1.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.804G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APOA1BP+c.804G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156563813">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1767,168,0:127	1|1:0,60:60:99:2088,180,0:127	1|1:0,50:50:99:1693,150,0:127
1	156565049	.	A	AAC	47632.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=455;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs72559129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72559129" target="_blank">rs72559129</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=23468869;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23468869" target="_blank">23468869</a>;ExAC.Info.AC=126486;ExAC.Info.AN=126704;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=216;ExAC.Info.AC_Hom=63135;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=act/actGT;snpeff.Amino_Acid_Change=p.Thr361_Phe362fs/c.1083_1084insGT;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=GPATCH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPATCH4" target="_blank">GPATCH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438976;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000438976;SAVANT_GENE=GPATCH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPATCH4" target="_blank">GPATCH4</a>;SAVANT_INFO=-/6.3kb/8/1.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1083_1084insGT;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPATCH4+c.1083_1084insGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156565049">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,149:149:99:6730,454,0:127	1|1:0,184:184:99:8235,562,0:127	1|1:0,122:122:99:5537,373,0:127
1	156565834	.	G	C	8324.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12024215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12024215" target="_blank">rs12024215</a>;ExAC.Info.AC=35618;ExAC.Info.AN=126704;ExAC.Info.AF=0.281;ExAC.Info.AC_Het=23930;ExAC.Info.AC_Hom=5827;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.491+39C>G;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=GPATCH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPATCH4" target="_blank">GPATCH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438976;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438976;SAVANT_GENE=GPATCH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPATCH4" target="_blank">GPATCH4</a>;SAVANT_INFO=-/6.3kb/8/1.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.491+39C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPATCH4+c.491+39C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156565834">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1103,96,0:83	1|1:0,28:28:84:1065,84,0:83	1|1:0,36:36:99:1311,108,0:83
1	156594364	.	T	C	11263.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12405992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12405992" target="_blank">rs12405992</a>;ExAC.Info.AC=33081;ExAC.Info.AN=126094;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=20867;ExAC.Info.AC_Hom=4620;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.557-29T>C;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=HAPLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAPLN2" target="_blank">HAPLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255039;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.557T>C;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=HAPLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAPLN2" target="_blank">HAPLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255039;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.557T>C;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=HAPLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAPLN2" target="_blank">HAPLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255039;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Link_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.557T>C;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=HAPLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAPLN2" target="_blank">HAPLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255039;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Link_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.557T>C;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=HAPLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAPLN2" target="_blank">HAPLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255039;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000255039;SAVANT_GENE=HAPLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HAPLN2" target="_blank">HAPLN2</a>;SAVANT_INFO=+/6.4kb/7/1.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.557-29T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HAPLN2+c.557-29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156594364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1580,126,0:110	1|1:0,46:46:99:1727,138,0:110	1|1:0,37:37:99:1337,111,0:110
1	156622252	.	G	A	11579.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1056695;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1056695" target="_blank">rs1056695</a>;ExAC.Info.AC=43966;ExAC.Info.AN=126294;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=22916;ExAC.Info.AC_Hom=6708;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.111-5306C>T;snpeff.Gene_Name=RP11-284F21.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-284F217" target="_blank">RP11-284F217</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000448869;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu504Lys/c.1510G>A;snpeff.Amino_Acid_length=911;snpeff.Gene_Name=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-284F217" target="_blank">RP11-284F217</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329117;SAVANT_GENE=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;SAVANT_INFO=+/17.6kb/14/3.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1510G>A_p.Glu504Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCAN+c.1510G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156622252">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1968,165,0:127	1|0:31,26:57:99:780,0,1057:127	1|1:0,53:53:99:1886,159,0:127
1	156626920	.	T	C	26156.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7524611;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7524611" target="_blank">rs7524611</a>;ExAC.Info.AC=125309;ExAC.Info.AN=125346;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=9;ExAC.Info.AC_Hom=61350;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2209+32T>C;snpeff.Amino_Acid_length=911;snpeff.Gene_Name=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329117;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.110+4187A>G;snpeff.Gene_Name=RP11-284F21.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000448869;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210T>C;snpeff.Amino_Acid_length=911;snpeff.Gene_Name=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329117;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210T>C;snpeff.Amino_Acid_length=911;snpeff.Gene_Name=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329117;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210T>C;snpeff.Amino_Acid_length=911;snpeff.Gene_Name=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329117;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210T>C;snpeff.Amino_Acid_length=911;snpeff.Gene_Name=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329117;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210T>C;snpeff.Amino_Acid_length=911;snpeff.Gene_Name=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329117;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2210T>C;snpeff.Amino_Acid_length=911;snpeff.Gene_Name=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329117;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329117;SAVANT_GENE=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;SAVANT_INFO=+/17.6kb/14/3.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2209+32T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCAN+c.2209+32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156626920">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3215,303,0:127	1|1:0,139:139:99:4481,417,0:127	1|1:0,93:93:99:3203,279,0:127
1	156628717	.	C	A	6697.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs951964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=951964" target="_blank">rs951964</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2629-102C>A;snpeff.Amino_Acid_length=911;snpeff.Gene_Name=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329117;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.110+2390G>T;snpeff.Gene_Name=RP11-284F21.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000448869;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329117;SAVANT_GENE=BCAN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAN" target="_blank">BCAN</a>;SAVANT_INFO=+/17.6kb/14/3.5kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2629-102C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCAN+c.2629-102C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156628717">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1825,159,0:127	1|0:19,21:40:99:646,0,533:127	1|0:19,9:28:99:215,0,526:127
1	156639753	.	G	A	5438.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11582300;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11582300" target="_blank">rs11582300</a>;ExAC.Info.AC=78362;ExAC.Info.AN=126584;ExAC.Info.AF=0.619;ExAC.Info.AC_Het=28269;ExAC.Info.AC_Hom=24356;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4227G>A;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4227G>A;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser1409Ser/c.4227C>T;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphoserine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.4227G>A;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368223;SAVANT_GENE=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;SAVANT_INFO=-/8.6kb/4/5.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.4227C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NES+c.4227C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156639753">View</a>	GT:AD:DP:GQ:PL:TP	0|0:121,0:121:99:0,364,4114:127	0|1:86,60:146:99:1639,0,2515:127	0|1:66,43:109:99:1100,0,1939:127
1	156640156	.	G	A	6904.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748570" target="_blank">rs3748570</a>;ExAC.Info.AC=85062;ExAC.Info.AN=126648;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=27209;ExAC.Info.AC_Hom=28532;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3824G>A;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3824G>A;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cTc;snpeff.Amino_Acid_Change=p.Pro1275Leu/c.3824C>T;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368223;SAVANT_GENE=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;SAVANT_INFO=-/8.6kb/4/5.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3824C>T_p.Pro1275Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NES+c.3824C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156640156">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,329,3777:127	0|1:69,63:132:99:1711,0,2029:127	0|1:44,63:107:99:1761,0,1354:127
1	156640678	.	G	A	2784.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2886443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2886443" target="_blank">rs2886443</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=79927;ExAC.Info.AN=126134;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=27204;ExAC.Info.AC_Hom=25264;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3302G>A;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3302G>A;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro1101Leu/c.3302C>T;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368223;SAVANT_GENE=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;SAVANT_INFO=-/8.6kb/4/5.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3302C>T_p.Pro1101Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NES+c.3302C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156640678">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1857:127	0|1:33,27:60:99:846,0,1039:127	0|1:15,20:35:99:566,0,444:127
1	156641537	.	C	T	23316.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs951781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=951781" target="_blank">rs951781</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=38656;ExAC.Info.AN=126698;ExAC.Info.AF=0.305;ExAC.Info.AC_Het=25828;ExAC.Info.AC_Hom=6387;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2443C>T;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2443C>T;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val815Ile/c.2443G>A;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368223;SAVANT_GENE=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;SAVANT_INFO=-/8.6kb/4/5.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.2443G>A_p.Val815Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NES+c.2443G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156641537">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,127:127:99:4493,382,0:127	1|0:96,89:185:99:2558,0,2803:127	1|0:89,77:166:99:2271,0,2655:127
1	156646668	.	A	G	10072.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4278369;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4278369" target="_blank">rs4278369</a>;ExAC.Info.AC=109932;ExAC.Info.AN=110158;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=25;ExAC.Info.AC_Hom=27030;snpeff.Effect=sequence_feature[region_of_interest:Coil_1B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389A>G;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389A>G;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389A>G;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389A>G;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val130Ala/c.389T>C;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368223;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368223;SAVANT_GENE=NES;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NES" target="_blank">NES</a>;SAVANT_INFO=-/8.6kb/4/5.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.389T>C_p.Val130Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NES+c.389T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156646668">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1003,87,0:98	1|1:0,33:33:99:1162,99,0:98	1|1:0,38:38:99:1309,114,0:98
1	156705593	.	G	C	24997.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4311877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4311877" target="_blank">rs4311877</a>;ExAC.Info.AC=125726;ExAC.Info.AN=126704;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=904;ExAC.Info.AC_Hom=62409;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ctg;snpeff.Amino_Acid_Change=p.Val400Leu/c.1198G>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=RRNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRNAD1" target="_blank">RRNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368216;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368216;SAVANT_GENE=RRNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRNAD1" target="_blank">RRNAD1</a>;SAVANT_INFO=+/8.5kb/8/2.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1198G>C_p.Val400Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRNAD1+c.1198G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156705593">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2854,240,0:127	1|1:0,97:97:99:3548,292,0:127	1|1:0,98:98:99:3390,294,0:127
1	156706559	.	A	C	4328.93	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=51;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;dbSNP139.ID=rs8658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8658" target="_blank">rs8658</a>;ExAC.Info.AC=40896;ExAC.Info.AN=126652;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=26178;ExAC.Info.AC_Hom=7464;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=14;snpeff.Amino_Acid_Change=c.*14A>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=RRNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRNAD1" target="_blank">RRNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368216;SAVANT_GENE=RRNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRNAD1" target="_blank">RRNAD1</a>;SAVANT_INFO=+/8.5kb/8/2.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*14A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRNAD1+c.*14A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156706559">View</a>	GT:AD:DP:GQ:PL	./1:0,13:18:99:677,198,159	./1:0,7:18:99:682,424,402	./1:0,10:15:99:518,159,129
1	156706559	.	A	G	4328.93	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=51;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;dbSNP139.ID=rs8658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8658" target="_blank">rs8658</a>;ExAC.Info.AC=84313;ExAC.Info.AN=126652;ExAC.Info.AF=0.666;ExAC.Info.AC_Het=26178;ExAC.Info.AC_Hom=7464;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=14;snpeff.Amino_Acid_Change=c.*14A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=RRNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRNAD1" target="_blank">RRNAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368216;SAVANT_GENE=RRNAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRNAD1" target="_blank">RRNAD1</a>;SAVANT_INFO=+/8.5kb/8/2.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*14A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRNAD1+c.*14A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156706559">View</a>	GT:AD:DP:GQ:PL	./1:0,5:18:99:677,479,464	./1:0,11:18:99:682,257,223	./1:0,5:15:99:518,360,344
1	156708244	.	C	G	17683.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=480;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs28697076;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28697076" target="_blank">rs28697076</a>;ExAC.Info.AC=2605;ExAC.Info.AN=126702;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=24031;ExAC.Info.AC_Hom=3534;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.184-14G>C;snpeff.Amino_Acid_length=216;snpeff.Gene_Name=MRPL24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL24" target="_blank">MRPL24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361531;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361531;SAVANT_GENE=MRPL24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL24" target="_blank">MRPL24</a>;SAVANT_INFO=-/3.8kb/6/0.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.184-14G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL24+c.184-14G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156708244">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,70:133:99:2216,0,1833:127	0/1:104,94:198:99:2967,0,2890:127	0/1:78,71:149:99:2197,0,2316:127
1	156713512	.	C	T	8069.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4437869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4437869" target="_blank">rs4437869</a>;ExAC.Info.AC=125171;ExAC.Info.AN=126550;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1072;ExAC.Info.AC_Hom=56590;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=HDGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HDGF" target="_blank">HDGF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368206;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696C>T;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=HDGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HDGF" target="_blank">HDGF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368206;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu232Glu/c.696G>A;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=HDGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HDGF" target="_blank">HDGF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368206;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368206;SAVANT_GENE=HDGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HDGF" target="_blank">HDGF</a>;SAVANT_INFO=-/9.1kb/6/1.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.696G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HDGF+c.696G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156713512">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1169,99,0:95	1|1:0,33:33:99:1138,99,0:95	1|1:0,33:33:99:1067,99,0:95
1	156713558	.	G	A	3099.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4399146;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4399146" target="_blank">rs4399146</a>;ExAC.Info.AC=34849;ExAC.Info.AN=126610;ExAC.Info.AF=0.275;ExAC.Info.AC_Het=23286;ExAC.Info.AC_Hom=5315;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.650G>A;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=HDGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HDGF" target="_blank">HDGF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368206;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.650G>A;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=HDGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HDGF" target="_blank">HDGF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368206;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cTc;snpeff.Amino_Acid_Change=p.Pro217Leu/c.650C>T;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=HDGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HDGF" target="_blank">HDGF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368206;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368206;SAVANT_GENE=HDGF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HDGF" target="_blank">HDGF</a>;SAVANT_INFO=-/9.1kb/6/1.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.650C>T_p.Pro217Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HDGF+c.650C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156713558">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,13:32:99:369,0,664:127	0/1:20,21:41:99:578,0,592:127	0/1:13,10:23:99:297,0,433:127
1	156737523	.	C	T	2216.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Renal_cell_carcinoma|_papillary|_605074_(3);dbSNP139.ID=rs143792441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=143792441" target="_blank">rs143792441</a>;ExAC.Info.AC=605;ExAC.Info.AN=118624;ExAC.Info.AF=5.100e-03;ExAC.Info.AC_Het=164;ExAC.Info.AC_Hom=2;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=41;snpeff.Amino_Acid_Change=c.-41C>T;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=PRCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRCC" target="_blank">PRCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271526;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271526;SAVANT_GENE=PRCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRCC" target="_blank">PRCC</a>;SAVANT_INFO=+/33.3kb/7/2.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-41C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRCC+c.-41C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156737523">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1411:125	0|1:34,40:74:99:1127,0,959:125	0|0:59,0:59:99:0,177,2094:125
1	156752048	.	C	G	18165.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Renal_cell_carcinoma|_papillary|_605074_(3);dbSNP139.ID=rs2274503;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274503" target="_blank">rs2274503</a>;ExAC.Info.AC=85152;ExAC.Info.AN=126686;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=27099;ExAC.Info.AC_Hom=28914;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.469-26C>G;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=PRCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRCC" target="_blank">PRCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271526;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271526;SAVANT_GENE=PRCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRCC" target="_blank">PRCC</a>;SAVANT_INFO=+/33.3kb/7/2.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.469-26C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRCC+c.469-26C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156752048">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2754,237,0:127	1|0:45,47:92:99:1503,0,1306:127	1|1:0,86:86:99:3030,258,0:127
1	156760887	.	C	A	19762.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Renal_cell_carcinoma|_papillary|_605074_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11264554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264554" target="_blank">rs11264554</a>;ExAC.Info.AC=46844;ExAC.Info.AN=119072;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=25993;ExAC.Info.AC_Hom=9968;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1084-602C>A;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=PRCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRCC" target="_blank">PRCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271526;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271526;SAVANT_GENE=PRCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRCC" target="_blank">PRCC</a>;SAVANT_INFO=+/33.3kb/7/2.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1084-602C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRCC+c.1084-602C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156760887">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2862,252,0:127	1|0:64,57:121:99:1684,0,1941:127	1|1:0,84:84:99:2999,252,0:127
1	156761618	.	C	T	3872.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Renal_cell_carcinoma|_papillary|_605074_(3);dbSNP139.ID=rs2644615;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2644615" target="_blank">rs2644615</a>;ExAC.Info.AC=27339;ExAC.Info.AN=126686;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=20473;ExAC.Info.AC_Hom=3343;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1179+34C>T;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=PRCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRCC" target="_blank">PRCC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271526;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271526;SAVANT_GENE=PRCC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRCC" target="_blank">PRCC</a>;SAVANT_INFO=+/33.3kb/7/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1179+34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRCC+c.1179+34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156761618">View</a>	GT:AD:DP:GQ:PL:TP	0|0:165,0:165:99:0,496,5636:127	0|1:86,73:159:99:1955,0,2475:127	0|0:154,0:154:99:0,462,5294:127
1	156784186	.	C	A	4547.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbSNP139.ID=rs34887185;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34887185" target="_blank">rs34887185</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.309-70G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D2A" target="_blank">SH2D2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392306;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392306;SAVANT_GENE=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D2A" target="_blank">SH2D2A</a>;SAVANT_INFO=-/10.6kb/9/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.309-70G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH2D2A+c.309-70G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156784186">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,33:70:99:821,0,1061:127	1|0:49,41:90:99:987,0,1479:127	0|0:77,0:77:99:0,231,2770:127
1	156784982	.	T	C	5671.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=82;MQ=69.92;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs926103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=926103" target="_blank">rs926103</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=78469;ExAC.Info.AN=126194;ExAC.Info.AF=0.622;ExAC.Info.AC_Het=23908;ExAC.Info.AC_Hom=21352;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn52Ser/c.155A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D2A" target="_blank">SH2D2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392306;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392306;SAVANT_GENE=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D2A" target="_blank">SH2D2A</a>;SAVANT_INFO=-/10.6kb/9/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.155A>G_p.Asn52Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH2D2A+c.155A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156784982">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:832,69,0:68	1|0:20,14:34:99:483,0,587:68	1|1:0,25:25:75:910,75,0:68
1	156785617	.	G	A	24340.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbSNP139.ID=rs1800601;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800601" target="_blank">rs1800601</a>;ExAC.Info.AC=84678;ExAC.Info.AN=126704;ExAC.Info.AF=0.668;ExAC.Info.AC_Het=27301;ExAC.Info.AC_Hom=28639;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.123+181C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392306;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392306;SAVANT_GENE=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D2A" target="_blank">SH2D2A</a>;SAVANT_INFO=-/10.6kb/9/1.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.123+181C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH2D2A+c.123+181C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156785617">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:2851,258,0:127	1|1:0,114:114:99:4112,343,0:127	1|1:0,81:81:99:3005,244,0:127
1	156785779	.	G	A	25662.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbSNP139.ID=rs1800600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800600" target="_blank">rs1800600</a>;ExAC.Info.AC=84239;ExAC.Info.AN=126654;ExAC.Info.AF=0.665;ExAC.Info.AC_Het=27603;ExAC.Info.AC_Hom=27354;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.123+19C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392306;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392306;SAVANT_GENE=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D2A" target="_blank">SH2D2A</a>;SAVANT_INFO=-/10.6kb/9/1.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.123+19C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH2D2A+c.123+19C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156785779">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2806,193,0:127	1|1:0,77:77:99:3207,243,0:127	1|1:0,83:83:99:3824,259,0:127
1	156786574	.	T	A	13884.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbSNP139.ID=rs12738727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12738727" target="_blank">rs12738727</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=74;snpeff.Amino_Acid_Change=c.-74A>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392306;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392306;SAVANT_GENE=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D2A" target="_blank">SH2D2A</a>;SAVANT_INFO=-/10.6kb/9/1.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-74A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH2D2A+c.-74A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156786574">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,54:116:99:2139,0,3452:127	1|0:60,74:134:99:2927,0,3190:127	0|0:120,0:120:99:0,364,6229:127
1	156786575	.	C	A	13884.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbSNP139.ID=rs12753240;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12753240" target="_blank">rs12753240</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=75;snpeff.Amino_Acid_Change=c.-75G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392306;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392306;SAVANT_GENE=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D2A" target="_blank">SH2D2A</a>;SAVANT_INFO=-/10.6kb/9/1.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-75G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH2D2A+c.-75G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156786575">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,56:117:99:2139,0,3461:127	1|0:60,74:134:99:2927,0,3190:127	0|0:119,0:119:99:0,364,6278:127
1	156786602	.	G	A	3734.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbSNP139.ID=rs72698634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72698634" target="_blank">rs72698634</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=102;snpeff.Amino_Acid_Change=c.-102C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392306;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392306;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392306;SAVANT_GENE=SH2D2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D2A" target="_blank">SH2D2A</a>;SAVANT_INFO=-/10.6kb/9/1.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-102C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH2D2A+c.-102C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156786602">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,384,4351:127	0|0:133,0:133:99:0,399,4579:127	0|1:56,64:120:99:1886,0,1502:127
1	156818647	.	T	C	3504.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbSNP139.ID=rs11590051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11590051" target="_blank">rs11590051</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1571+66A>G;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=INSRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368195;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1572T>C;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=INSRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368195;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1572T>C;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=INSRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368195;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368195;SAVANT_GENE=INSRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSRR" target="_blank">INSRR</a>;SAVANT_INFO=-/19.0kb/22/5.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1571+66A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INSRR+c.1571+66A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156818647">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,24:42:99:753,0,566:101	1|0:24,25:49:99:815,0,709:101	0|0:34,0:34:99:0,102,1252:101
1	156830779	.	G	A	4622.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|D|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1007211;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1007211" target="_blank">rs1007211</a>;ExAC.Info.AC=307;ExAC.Info.AN=95178;ExAC.Info.AF=3.226e-03;ExAC.Info.AC_Het=58;ExAC.Info.AC_Hom=2;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gAg;snpeff.Amino_Acid_Change=p.Gly18Glu/c.53G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524377;SAVANT_GENE=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;SAVANT_INFO=+/20.8kb/17/2.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.53G>A_p.Gly18Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTRK1+c.53G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156830779">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,25:43:99:736,0,535:99	0|0:33,0:33:99:0,99,1279:99	1|0:27,32:59:99:1029,0,865:99
1	156837847	.	T	C	3466.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbSNP139.ID=rs16837724;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16837724" target="_blank">rs16837724</a>;ExAC.Info.AC=4987;ExAC.Info.AN=126704;ExAC.Info.AF=0.039;ExAC.Info.AC_Het=4693;ExAC.Info.AC_Hom=144;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.429-49T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524377;SAVANT_GENE=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;SAVANT_INFO=+/20.8kb/17/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.429-49T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTRK1+c.429-49T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156837847">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,318,3337:127	0|1:71,60:131:99:1752,0,1861:127	0|0:72,1:73:99:0,209,2598:127
1	156838141	.	T	C	2591.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbSNP139.ID=rs1800879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800879" target="_blank">rs1800879</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.574+100T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LRRCT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LRRCT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575T>C;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524377;SAVANT_GENE=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;SAVANT_INFO=+/20.8kb/17/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.574+100T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTRK1+c.574+100T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156838141">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,13:29:99:367,0,445:120	0/1:13,19:32:99:582,0,387:120	0/1:19,5:24:99:120,0,666:120
1	156843439	.	C	A	200.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs137979116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=137979116" target="_blank">rs137979116</a>;ExAC.Info.AC=111;ExAC.Info.AN=126374;ExAC.Info.AF=8.783e-04;ExAC.Info.AC_Het=102;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Aag;snpeff.Amino_Acid_Change=p.Gln289Lys/c.865C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524377;SAVANT_GENE=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;SAVANT_INFO=+/20.8kb/17/2.4kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.865C>A_p.Gln289Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTRK1+c.865C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156843439">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,705:56	0|0:33,0:33:99:0,99,1267:56	0|1:6,4:10:99:119,0,225:56
1	156846233	.	G	A	4712.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbSNP139.ID=rs6334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6334" target="_blank">rs6334</a>;ExAC.Info.AC=27645;ExAC.Info.AN=126678;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=21195;ExAC.Info.AC_Hom=3139;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln558Gln/c.1674G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524377;SAVANT_GENE=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;SAVANT_INFO=+/20.8kb/17/2.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1674G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTRK1+c.1674G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156846233">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,35:65:99:923,0,873:127	1|0:45,31:76:99:858,0,1345:127	0|0:78,0:78:99:0,234,2766:127
1	156848995	.	C	T	15204.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3)|Insensitivity_to_pain|_congenital|_with_anhidrosis|_256800_(3)|_Medullary_thyroid_carcinoma|_familial|_155240_(3);dbSNP139.ID=rs6337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6337" target="_blank">rs6337</a>;ExAC.Info.AC=72368;ExAC.Info.AN=126622;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=24217;ExAC.Info.AC_Hom=23723;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127264;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala629Ala/c.1887C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524377;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524377;SAVANT_GENE=NTRK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1" target="_blank">NTRK1</a>;SAVANT_INFO=+/20.8kb/17/2.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1887C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTRK1+c.1887C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156848995">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127264" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:50,70:120:99:2143,0,1474:127	0/1:91,73:164:99:2348,0,2782:127	0/1:63,68:131:99:2172,0,1869:127
1	156852463	.	A	C	13440.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2768759;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2768759" target="_blank">rs2768759</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2768759" target="_blank">rs2768759</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156852463">View</a>	GT:AD:DP:GQ:PL:TP	0/1:75,70:145:99:2037,0,2109:127	0/1:83,72:155:99:1915,0,2497:127	0/1:60,70:130:99:1860,0,1718:127
1	156869630	.	G	C	5033.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12086222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12086222" target="_blank">rs12086222</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-9-4080G>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4089G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.-4089G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156869630">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,29:39:99:1021,0,294:125	1|0:30,27:57:99:860,0,984:125	0|0:42,0:42:99:0,126,1565:125
1	156869714	.	G	A	2508.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=356;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12041331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12041331" target="_blank">rs12041331</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Greater_platelet_aggregation|_association_with;hgmd_2014.2.OMIM_ID=610278;hgmd_2014.2.PubMed=21791418;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21791418" target="_blank">21791418</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-9-3996G>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4005G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.-4005G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156869714">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,345,3715:127	0|0:121,0:121:99:0,363,4188:127	0|1:69,51:120:99:1273,0,1947:127
1	156873727	.	G	A	3940.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12407843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12407843" target="_blank">rs12407843</a>;ExAC.Info.AC=19203;ExAC.Info.AN=126704;ExAC.Info.AF=0.152;ExAC.Info.AC_Het=15629;ExAC.Info.AC_Hom=1784;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9G>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro3Pro/c.9G>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.9G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.9G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156873727">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,22:58:99:604,0,1039:127	1|0:51,33:84:99:890,0,1378:127	0|0:54,0:54:99:0,162,1772:127
1	156875985	.	G	A	13060.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2644593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2644593" target="_blank">rs2644593</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.308-83G>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308G>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308G>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EMI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308G>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EMI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308G>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EMI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308G>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EMI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308G>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.308-83G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.308-83G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156875985">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1803,153,0:127	1|1:0,59:59:99:2053,177,0:127	1|1:0,47:47:99:1522,141,0:127
1	156876729	.	T	C	6078.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs735953;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=735953" target="_blank">rs735953</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.644+57T>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.644+57T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.644+57T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156876729">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,44:79:99:1143,0,891:127	1|0:36,42:78:99:1196,0,972:127	0|0:81,1:82:99:0,215,2730:127
1	156877457	.	T	C	25853.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1952294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1952294" target="_blank">rs1952294</a>;ExAC.Info.AC=125906;ExAC.Info.AN=126704;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=738;ExAC.Info.AC_Hom=62557;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700T>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700T>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Cct;snpeff.Amino_Acid_Change=p.Ser234Pro/c.700T>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.700T>C_p.Ser234Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.700T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156877457">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3690,313,0:127	1|1:0,112:112:99:4042,337,0:127	1|1:0,94:94:99:3254,282,0:127
1	156877797	.	C	A	8920.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs77235035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77235035" target="_blank">rs77235035</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=17700;ExAC.Info.AN=123328;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=7899;ExAC.Info.AC_Hom=915;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.856C>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.856C>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.856C>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cga/Aga;snpeff.Amino_Acid_Change=p.Arg286Arg/c.856C>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.856C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.856C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156877797">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,75:147:99:2136,0,1886:127	1|0:77,62:139:99:1814,0,2129:127	0|0:154,0:154:99:0,462,4959:127
1	156877884	.	T	TG	4038.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=197;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs150532135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150532135" target="_blank">rs150532135</a>;ExAC.Info.AC=17121;ExAC.Info.AN=123446;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=9154;ExAC.Info.AC_Hom=991;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.903-35_903-34insG;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.903_904insG;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.903_904insG;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.903_904insG;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.903_904insG;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.903-32dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.903-32dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156877884">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,35:59:99:997,0,602:127	1|0:40,37:77:99:976,0,1080:127	0|0:61,0:61:99:0,184,1998:127
1	156878531	.	T	C	2434.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11264580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11264580" target="_blank">rs11264580</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=17089;ExAC.Info.AN=122540;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=7873;ExAC.Info.AC_Hom=842;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1200T>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1200T>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His400His/c.1200T>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1200T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.1200T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156878531">View</a>	GT:AD:DP:GQ:PL:TP	0|1:6,15:21:99:489,0,138:42	1|0:9,13:22:99:403,0,262:42	0|0:14,0:14:42:0,42,500:42
1	156878737	.	T	C	10318.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=426;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6671392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6671392" target="_blank">rs6671392</a>;ExAC.Info.AC=21692;ExAC.Info.AN=126704;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=17503;ExAC.Info.AC_Hom=2090;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro440Pro/c.1320T>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1320T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.1320T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156878737">View</a>	GT:AD:DP:GQ:PL:TP	0|1:66,67:133:99:1836,0,1867:127	1|0:76,90:166:99:2497,0,2292:127	0|0:127,0:127:99:0,381,4402:127
1	156879504	.	A	G	5920.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41273205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41273205" target="_blank">rs41273205</a>;ExAC.Info.AC=17996;ExAC.Info.AN=126260;ExAC.Info.AF=0.143;ExAC.Info.AC_Het=13989;ExAC.Info.AC_Hom=1484;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1412-39A>G;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1412-39A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.1412-39A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156879504">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,46:101:99:1369,0,1541:127	1|0:56,40:96:99:1095,0,1629:127	0|0:97,0:97:99:0,291,3260:127
1	156879532	.	C	T	6126.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41273207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41273207" target="_blank">rs41273207</a>;ExAC.Info.AC=2989;ExAC.Info.AN=126648;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=2779;ExAC.Info.AC_Hom=58;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1412-11C>T;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1412-11C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.1412-11C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156879532">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,53:117:99:1289,0,1815:127	1|0:65,40:105:99:1051,0,1910:127	0|0:102,0:102:99:0,306,3503:127
1	156879580	.	C	T	6010.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3737224;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737224" target="_blank">rs3737224</a>;ExAC.Info.AC=17210;ExAC.Info.AN=126696;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=14309;ExAC.Info.AC_Hom=1427;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro483Pro/c.1449C>T;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1449C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.1449C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156879580">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,45:108:99:1223,0,1651:127	1|0:54,37:91:99:1075,0,1537:127	0|0:70,0:70:99:0,210,2389:127
1	156881959	.	C	T	8283.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41273215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41273215" target="_blank">rs41273215</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1952-80C>T;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1952-80C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.1952-80C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156881959">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,48:103:99:1263,0,1543:127	1|0:87,70:157:99:1850,0,2620:127	0|0:126,0:126:99:0,378,4683:127
1	156882261	.	C	T	2666.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs57731889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57731889" target="_blank">rs57731889</a>;ExAC.Info.AC=19944;ExAC.Info.AN=126698;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=14348;ExAC.Info.AC_Hom=2723;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2081-25C>T;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2081-25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.2081-25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156882261">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,279,3312:127	0|0:129,0:129:99:0,385,4627:127	0|1:35,48:83:99:1352,0,1034:127
1	156882996	.	G	C	14126.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=549;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs822441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=822441" target="_blank">rs822441</a>;ExAC.Info.AC=27309;ExAC.Info.AN=126702;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=19948;ExAC.Info.AC_Hom=3617;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2433G>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2433G>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2433G>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2433G>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2433G>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2433G>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro811Pro/c.2433G>C;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2433G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.2433G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156882996">View</a>	GT:AD:DP:GQ:PL:TP	0|1:82,96:178:99:2786,0,1980:127	1|0:105,103:208:99:2894,0,2859:127	0|0:163,0:163:99:0,490,5739:127
1	156883215	.	C	A	6220.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs822442;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=822442" target="_blank">rs822442</a>;ExAC.Info.AC=18260;ExAC.Info.AN=126692;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=15070;ExAC.Info.AC_Hom=1547;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2544C>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2544C>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2544C>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2544C>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2544C>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2544C>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaC/aaA;snpeff.Amino_Acid_Change=p.Asn848Lys/c.2544C>A;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2544C>A_p.Asn848Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.2544C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156883215">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,24:58:99:636,0,1007:127	1|0:38,56:94:99:1572,0,1131:127	0|0:56,0:56:99:0,168,2056:127
1	156883546	.	A	G	2178.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12137505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12137505" target="_blank">rs12137505</a>;ExAC.Info.AC=54730;ExAC.Info.AN=126702;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=29649;ExAC.Info.AC_Hom=12474;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2707A>G;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2707A>G;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2707A>G;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2707A>G;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2707A>G;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2707A>G;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn903Asp/c.2707A>G;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.2707A>G_p.Asn903Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.2707A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156883546">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,229,2754:127	0|0:100,0:100:99:0,301,3597:127	0|1:35,36:71:99:1108,0,1001:127
1	156884584	.	C	T	6456.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56260937;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56260937" target="_blank">rs56260937</a>;ExAC.Info.AC=21816;ExAC.Info.AN=126704;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=17654;ExAC.Info.AC_Hom=2048;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp1036Asp/c.3108C>T;snpeff.Amino_Acid_length=1037;snpeff.Gene_Name=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000292357;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338302;SAVANT_GENE=PEAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEAR1" target="_blank">PEAR1</a>;SAVANT_INFO=+/22.7kb/24/5.0kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.3108C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEAR1+c.3108C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156884584">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,36:73:99:990,0,1141:127	1|0:49,49:98:99:1317,0,1482:127	0|0:108,0:108:99:0,324,3731:127
1	156890672	.	T	C	3344.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41273221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41273221" target="_blank">rs41273221</a>;ExAC.Info.AC=3536;ExAC.Info.AN=26182;ExAC.Info.AF=0.135;ExAC.Info.AC_Het=2484;ExAC.Info.AC_Hom=270;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val26Ala/c.77T>C;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=LRRC71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC71" target="_blank">LRRC71</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337428;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337428;SAVANT_GENE=LRRC71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC71" target="_blank">LRRC71</a>;SAVANT_INFO=+/12.4kb/15/2.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.77T>C_p.Val26Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC71+c.77T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156890672">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,11:27:99:341,0,470:127	1|0:20,28:48:99:826,0,528:127	0|0:49,0:49:99:0,147,1508:127
1	156902281	.	T	G	2010.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs822431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=822431" target="_blank">rs822431</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=26627;ExAC.Info.AN=125704;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=19736;ExAC.Info.AC_Hom=3369;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Gcc;snpeff.Amino_Acid_Change=p.Ser503Ala/c.1507T>G;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=LRRC71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC71" target="_blank">LRRC71</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337428;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337428;SAVANT_GENE=LRRC71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC71" target="_blank">LRRC71</a>;SAVANT_INFO=+/12.4kb/15/2.0kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1507T>G_p.Ser503Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC71+c.1507T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156902281">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,11:31:99:295,0,612:114	1|0:18,20:38:99:518,0,558:114	0|0:38,0:38:99:0,114,1330:114
1	156902574	.	A	AT	1213.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=64;MQ=70.05;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11415803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11415803" target="_blank">rs11415803</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1564-70_1564-69insT;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=LRRC71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC71" target="_blank">LRRC71</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337428;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000337428;SAVANT_GENE=LRRC71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC71" target="_blank">LRRC71</a>;SAVANT_INFO=+/12.4kb/15/2.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1564-60dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC71+c.1564-60dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156902574">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,13:24:99:283,0,209:60	1|0:11,9:20:99:162,0,222:60	0|0:20,0:20:60:0,60,547:60
1	156907081	.	T	C	4487.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs945508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=945508" target="_blank">rs945508</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes|_type_2|_association_with;hgmd_2014.2.OMIM_ID=605708;hgmd_2014.2.PubMed=17369523;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17369523" target="_blank">17369523</a>;ExAC.Info.AC=80793;ExAC.Info.AN=126704;ExAC.Info.AF=0.638;ExAC.Info.AC_Het=27202;ExAC.Info.AC_Hom=26756;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His1467Arg/c.4400A>G;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368194;SAVANT_GENE=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;SAVANT_INFO=-/110.5kb/41/6.9kb;SAVANT_LOC=Ex39;SAVANT_HGVS=c.4400A>G_p.His1467Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF11+c.4400A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156907081">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,13:43:99:348,0,881:127	1|0:40,46:86:99:1248,0,985:127	0|0:71,0:71:99:0,213,2297:127
1	156909303	.	T	A	3883.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3818807;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818807" target="_blank">rs3818807</a>;ExAC.Info.AC=22328;ExAC.Info.AN=126688;ExAC.Info.AF=0.176;ExAC.Info.AC_Het=17880;ExAC.Info.AC_Hom=2146;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4096+37A>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368194;SAVANT_GENE=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;SAVANT_INFO=-/110.5kb/41/6.9kb;SAVANT_LOC=In37/38;SAVANT_HGVS=c.4096+37A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF11+c.4096+37A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156909303">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,23:50:99:535,0,687:127	1|0:33,31:64:99:859,0,925:127	0|0:62,0:62:99:0,185,1980:127
1	156909695	.	G	A	2612.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2275199;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275199" target="_blank">rs2275199</a>;ExAC.Info.AC=21935;ExAC.Info.AN=126646;ExAC.Info.AF=0.173;ExAC.Info.AC_Het=17626;ExAC.Info.AC_Hom=2053;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn1247Asn/c.3741C>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368194;SAVANT_GENE=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;SAVANT_INFO=-/110.5kb/41/6.9kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.3741C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF11+c.3741C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156909695">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,14:39:99:326,0,852:110	1|0:22,19:41:99:545,0,703:110	0|0:37,0:37:99:0,111,1417:110
1	156925435	.	T	C	3029.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2275204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275204" target="_blank">rs2275204</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1768+60A>G;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368194;SAVANT_GENE=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;SAVANT_INFO=-/110.5kb/41/6.9kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.1768+60A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF11+c.1768+60A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156925435">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,18:48:99:547,0,841:127	1|0:23,20:43:99:625,0,707:127	0|0:45,0:45:99:0,135,1647:127
1	156928776	.	A	T	7666.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1572409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1572409" target="_blank">rs1572409</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1379+62T>A;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGSL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGSL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGSL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGSL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGSL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGSL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGSL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGSL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1380A>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368194;SAVANT_GENE=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;SAVANT_INFO=-/110.5kb/41/6.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1379+62T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF11+c.1379+62T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156928776">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,36:94:99:967,0,1681:127	1|0:61,70:131:99:2160,0,1782:127	0|0:98,0:98:99:0,294,3510:127
1	156939067	.	G	A	593.38	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=27;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2275206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275206" target="_blank">rs2275206</a>;ExAC.Info.AC=20979;ExAC.Info.AN=126214;ExAC.Info.AF=0.166;ExAC.Info.AC_Het=13537;ExAC.Info.AC_Hom=1643;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.825+7C>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.826C>T;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368194;SAVANT_GENE=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;SAVANT_INFO=-/110.5kb/41/6.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.825+7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF11+c.825+7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156939067">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,7:12:99:147,0,162:21	0/1:6,3:9:85:85,0,216:21	0/1:5,1:6:21:21,0,185:21
1	156939175	.	C	T	2060.24	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1336149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1336149" target="_blank">rs1336149</a>;ExAC.Info.AC=69040;ExAC.Info.AN=124898;ExAC.Info.AF=0.553;ExAC.Info.AC_Het=17460;ExAC.Info.AC_Hom=14050;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.749-25G>A;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368194;SAVANT_GENE=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;SAVANT_INFO=-/110.5kb/41/6.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.749-25G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF11+c.749-25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156939175">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,9:24:99:184,0,377:17	1|0:13,16:29:99:480,0,387:17	0|0:15,1:16:17:0,17,566:17
1	156946898	.	T	G	9893.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=479;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1006168;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1006168" target="_blank">rs1006168</a>;ExAC.Info.AC=23647;ExAC.Info.AN=126698;ExAC.Info.AF=0.187;ExAC.Info.AC_Het=18739;ExAC.Info.AC_Hom=2418;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.511-52A>C;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368194;SAVANT_GENE=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;SAVANT_INFO=-/110.5kb/41/6.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.511-52A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF11+c.511-52A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156946898">View</a>	GT:AD:DP:GQ:PL:TP	0|1:83,72:155:99:2025,0,2122:127	1|0:93,75:168:99:2104,0,2483:127	0|0:156,0:156:99:0,469,5242:127
1	156947928	.	T	C	3346.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs16837897;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16837897" target="_blank">rs16837897</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.510+68A>G;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368194;SAVANT_GENE=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;SAVANT_INFO=-/110.5kb/41/6.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.510+68A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF11+c.510+68A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156947928">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,16:26:99:508,0,268:104	1|0:13,36:49:99:1131,0,299:104	0|0:35,0:35:99:0,105,1255:104
1	156947953	.	A	T	3960.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12141806;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12141806" target="_blank">rs12141806</a>;ExAC.Info.AC=22596;ExAC.Info.AN=126658;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=17837;ExAC.Info.AC_Hom=2097;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.510+43T>A;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368194;SAVANT_GENE=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;SAVANT_INFO=-/110.5kb/41/6.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.510+43T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF11+c.510+43T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156947953">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,18:33:99:505,0,449:127	1|0:20,46:66:99:1295,0,495:127	0|0:47,0:47:99:0,141,1690:127
1	156954267	.	C	T	3028.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6427339;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427339" target="_blank">rs6427339</a>;ExAC.Info.AC=42197;ExAC.Info.AN=112376;ExAC.Info.AF=0.375;ExAC.Info.AC_Het=8162;ExAC.Info.AC_Hom=4147;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125-38G>A;snpeff.Amino_Acid_length=1562;snpeff.Gene_Name=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368194;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368194;SAVANT_GENE=ARHGEF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGEF11" target="_blank">ARHGEF11</a>;SAVANT_INFO=-/110.5kb/41/6.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.125-38G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGEF11+c.125-38G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:156954267">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,17:36:99:474,0,556:127	1|0:24,25:49:99:662,0,726:127	0|0:51,0:51:99:0,153,1698:127
1	157062696	.	G	T	4391.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1176537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1176537" target="_blank">rs1176537</a>;cosmic68.Histology_subtype=ductal_carcinoma;ExAC.Info.AC=39083;ExAC.Info.AN=126692;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=25743;ExAC.Info.AC_Hom=6523;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>T;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ETV3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETV3L" target="_blank">ETV3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454449;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctA;snpeff.Amino_Acid_Change=p.Leu277Leu/c.831C>A;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ETV3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETV3L" target="_blank">ETV3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454449;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454449;SAVANT_GENE=ETV3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETV3L" target="_blank">ETV3L</a>;SAVANT_INFO=-/7.8kb/5/2.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.831C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ETV3L+c.831C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157062696">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,42:79:99:1093,0,885:127	0|0:86,0:86:99:0,258,3034:127	1|0:29,28:57:99:705,0,871:127
1	157062739	.	C	G	2858.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12136960;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12136960" target="_blank">rs12136960</a>;ExAC.Info.AC=23534;ExAC.Info.AN=126694;ExAC.Info.AF=0.186;ExAC.Info.AC_Het=18547;ExAC.Info.AC_Hom=2356;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.788C>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ETV3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETV3L" target="_blank">ETV3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454449;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gCg;snpeff.Amino_Acid_Change=p.Gly263Ala/c.788G>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ETV3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETV3L" target="_blank">ETV3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454449;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454449;SAVANT_GENE=ETV3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETV3L" target="_blank">ETV3L</a>;SAVANT_INFO=-/7.8kb/5/2.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.788G>C_p.Gly263Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ETV3L+c.788G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157062739">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1902:127	0|1:40,24:64:99:606,0,1327:127	0|1:24,28:52:99:843,0,647:127
1	157452142	.	C	T	13064.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1412329;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1412329" target="_blank">rs1412329</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1412329" target="_blank">rs1412329</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157452142">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,34:82:99:960,0,1470:127	1|1:0,112:112:99:3917,336,0:127	0|1:63,41:104:99:1111,0,1886:127
1	157485429	.	C	G	1512.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs60516051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60516051" target="_blank">rs60516051</a>;ExAC.Info.AC=5256;ExAC.Info.AN=126704;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4894;ExAC.Info.AC_Hom=181;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=36;snpeff.Amino_Acid_Change=c.*36G>C;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361835;SAVANT_GENE=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;SAVANT_INFO=-/39.1kb/17/5.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*36G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL5+c.*36G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157485429">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1975:127	0|0:47,0:47:99:0,141,1746:127	0|1:21,26:47:99:775,0,669:127
1	157485504	.	G	A	1222.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs115493285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115493285" target="_blank">rs115493285</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=4149;ExAC.Info.AN=126704;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=3915;ExAC.Info.AC_Hom=117;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2895G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2895G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2895G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2895G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2895G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2895G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser965Ser/c.2895C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361835;SAVANT_GENE=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;SAVANT_INFO=-/39.1kb/17/5.4kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2895C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL5+c.2895C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157485504">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1984:127	0|0:78,0:78:99:0,234,2729:127	0|1:28,21:49:99:630,0,823:127
1	157485561	.	G	A	12062.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3811035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811035" target="_blank">rs3811035</a>;ExAC.Info.AC=79266;ExAC.Info.AN=126702;ExAC.Info.AF=0.626;ExAC.Info.AC_Het=26662;ExAC.Info.AC_Hom=26266;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2845-7C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2845G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2845G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2845G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2845G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2845G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2845G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361835;SAVANT_GENE=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;SAVANT_INFO=-/39.1kb/17/5.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2845-7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL5+c.2845-7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157485561">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1815,147,0:127	1|1:0,69:69:99:2378,207,0:127	1|0:12,21:33:99:635,0,359:127
1	157489516	.	T	G	1214.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=137;MQ=69.91;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1332714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1332714" target="_blank">rs1332714</a>;ExAC.Info.AC=33192;ExAC.Info.AN=126704;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=23302;ExAC.Info.AC_Hom=4911;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2660+17A>C;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2661T>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2661T>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2661T>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2661T>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2661T>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2661T>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361835;SAVANT_GENE=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;SAVANT_INFO=-/39.1kb/17/5.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2660+17A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL5+c.2660+17A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157489516">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1601:113	0|1:25,22:47:99:626,0,759:113	0|0:38,0:38:99:0,114,1355:113
1	157509025	.	C	T	27035.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2012199;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2012199" target="_blank">rs2012199</a>;ExAC.Info.AC=109801;ExAC.Info.AN=126696;ExAC.Info.AF=0.867;ExAC.Info.AC_Het=14310;ExAC.Info.AC_Hom=47697;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1253C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGt/gAt;snpeff.Amino_Acid_Change=p.Gly418Asp/c.1253G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361835;SAVANT_GENE=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;SAVANT_INFO=-/39.1kb/17/5.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1253G>A_p.Gly418Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL5+c.1253G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157509025">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3456,318,0:127	1|1:0,140:140:99:4617,420,0:127	1|1:0,91:91:99:3107,274,0:127
1	157514091	.	C	T	2144.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12036228;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12036228" target="_blank">rs12036228</a>;ExAC.Info.AC=24350;ExAC.Info.AN=126700;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=19254;ExAC.Info.AC_Hom=2546;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.805C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val269Ile/c.805G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361835;SAVANT_GENE=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;SAVANT_INFO=-/39.1kb/17/5.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.805G>A_p.Val269Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL5+c.805G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157514091">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2352:127	0|0:74,0:74:99:0,222,2627:127	0|1:30,36:66:99:1091,0,811:127
1	157514097	.	A	G	20334.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6679793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6679793" target="_blank">rs6679793</a>;ExAC.Info.AC=99157;ExAC.Info.AN=126704;ExAC.Info.AF=0.783;ExAC.Info.AC_Het=19910;ExAC.Info.AC_Hom=39612;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799A>G;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Cac;snpeff.Amino_Acid_Change=p.Tyr267His/c.799T>C;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361835;SAVANT_GENE=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;SAVANT_INFO=-/39.1kb/17/5.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.799T>C_p.Tyr267His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL5+c.799T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157514097">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2575,201,0:127	1|1:0,79:79:99:2927,237,0:127	1|1:0,73:73:99:2928,223,0:127
1	157517127	.	C	T	1442.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7531685;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7531685" target="_blank">rs7531685</a>;ExAC.Info.AC=22458;ExAC.Info.AN=125232;ExAC.Info.AF=0.179;ExAC.Info.AC_Het=16571;ExAC.Info.AC_Hom=1943;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.53-140G>A;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=977;snpeff.Gene_Name=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361835;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361835;SAVANT_GENE=FCRL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL5" target="_blank">FCRL5</a>;SAVANT_INFO=-/39.1kb/17/5.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.53-140G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL5+c.53-140G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157517127">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1895:127	0|0:92,0:92:99:0,275,3180:127	0|1:53,30:83:99:740,0,1527:127
1	157550066	.	T	C	37276.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=708;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10489673;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10489673" target="_blank">rs10489673</a>;ExAC.Info.AC=53206;ExAC.Info.AN=126700;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=28673;ExAC.Info.AC_Hom=12254;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1277+45A>G;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1278T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1278T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1278T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1278T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1278T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1278T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271532;SAVANT_GENE=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;SAVANT_INFO=-/24.3kb/12/3.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1277+45A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL4+c.1277+45A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157550066">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,214:214:99:7369,643,0:127	1|0:123,140:263:99:3690,0,3249:127	1|0:116,115:231:99:3254,0,3320:127
1	157557701	.	G	A	6232.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2777962;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2777962" target="_blank">rs2777962</a>;ExAC.Info.AC=59858;ExAC.Info.AN=126630;ExAC.Info.AF=0.473;ExAC.Info.AC_Het=29944;ExAC.Info.AC_Hom=13805;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp172Asp/c.516C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271532;SAVANT_GENE=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;SAVANT_INFO=-/24.3kb/12/3.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.516C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL4+c.516C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157557701">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,34:35:66:1292,66,0:66	1|0:31,32:63:99:891,0,795:66	1|0:20,21:41:99:600,0,597:66
1	157557957	.	T	C	1720.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11799853;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11799853" target="_blank">rs11799853</a>;ExAC.Info.AC=37196;ExAC.Info.AN=126256;ExAC.Info.AF=0.295;ExAC.Info.AC_Het=24020;ExAC.Info.AC_Hom=5213;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.308-48A>G;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.308T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271532;SAVANT_GENE=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;SAVANT_INFO=-/24.3kb/12/3.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.308-48A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL4+c.308-48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157557957">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2768:127	0|0:118,0:118:99:0,355,4174:127	0|1:50,32:82:99:879,0,1538:127
1	157559122	.	C	T	21402.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11582663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11582663" target="_blank">rs11582663</a>;ExAC.Info.AC=14590;ExAC.Info.AN=126704;ExAC.Info.AF=0.115;ExAC.Info.AC_Het=12145;ExAC.Info.AC_Hom=1217;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg60Gln/c.179G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271532;SAVANT_GENE=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;SAVANT_INFO=-/24.3kb/12/3.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.179G>A_p.Arg60Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL4+c.179G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157559122">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:4156,354,0:127	1|0:82,64:146:99:1819,0,2223:127	1|0:60,60:120:99:1711,0,1722:127
1	157566211	.	A	G	2182.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12744410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12744410" target="_blank">rs12744410</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.32-73T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32A>G;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32A>G;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32A>G;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271532;SAVANT_GENE=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;SAVANT_INFO=-/24.3kb/12/3.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.32-73T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL4+c.32-73T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157566211">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2298:127	0|0:91,0:91:99:0,273,3032:127	0|1:44,41:85:99:1110,0,1213:127
1	157567751	.	A	G	9701.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1361889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1361889" target="_blank">rs1361889</a>;ExAC.Info.AC=98091;ExAC.Info.AN=126662;ExAC.Info.AF=0.774;ExAC.Info.AC_Het=21325;ExAC.Info.AC_Hom=37418;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=17;snpeff.Amino_Acid_Change=c.-17T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271532;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271532;SAVANT_GENE=FCRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL4" target="_blank">FCRL4</a>;SAVANT_INFO=-/24.3kb/12/3.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-17T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL4+c.-17T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157567751">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1623,144,0:125	1|0:33,32:65:99:990,0,910:125	1|1:0,42:42:99:1520,126,0:125
1	157668390	.	T	C	5156.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7522061;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7522061" target="_blank">rs7522061</a>;ExAC.Info.AC=57028;ExAC.Info.AN=126700;ExAC.Info.AF=0.450;ExAC.Info.AC_Het=30419;ExAC.Info.AC_Hom=13277;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn28Asp/c.82A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368184;SAVANT_GENE=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;SAVANT_INFO=-/24.4kb/15/4.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.82A>G_p.Asn28Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL3+c.82A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157668390">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,265,3141:127	0|1:53,50:103:99:1324,0,1642:127	0|1:45,46:91:99:1274,0,1267:127
1	157668427	.	G	A	1976.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12140725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12140725" target="_blank">rs12140725</a>;ExAC.Info.AC=23305;ExAC.Info.AN=126692;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=18727;ExAC.Info.AC_Hom=2236;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.53-8C>T;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53G>A;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53G>A;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53G>A;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53G>A;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53G>A;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53G>A;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53G>A;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53G>A;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53C>T;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368184;SAVANT_GENE=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;SAVANT_INFO=-/24.4kb/15/4.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.53-8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL3+c.53-8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157668427">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2149:127	0|1:30,32:62:99:1007,0,931:127	0|0:58,0:58:99:0,174,2120:127
1	157669580	.	T	A	1928.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs58517866;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58517866" target="_blank">rs58517866</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.32-78A>T;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32T>A;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32T>A;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368184;SAVANT_GENE=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;SAVANT_INFO=-/24.4kb/15/4.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.32-78A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL3+c.32-78A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157669580">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1788:127	0|0:75,0:75:99:0,225,2467:127	0|1:24,37:61:99:983,0,630:127
1	157670290	.	C	G	3364.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs945635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=945635" target="_blank">rs945635</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Graves'_disease|_association_with;hgmd_2014.2.OMIM_ID=606510;hgmd_2014.2.PubMed=16384851;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16384851" target="_blank">16384851</a>;ExAC.Info.AC=57501;ExAC.Info.AN=126702;ExAC.Info.AF=0.454;ExAC.Info.AC_Het=29040;ExAC.Info.AC_Hom=14113;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=11;snpeff.Amino_Acid_Change=c.-11G>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368186;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368184;SAVANT_GENE=FCRL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL3" target="_blank">FCRL3</a>;SAVANT_INFO=-/24.4kb/15/4.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-11G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL3+c.-11G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157670290">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1520:127	0|1:27,36:63:99:1003,0,784:127	0|1:33,26:59:99:699,0,949:127
1	157718283	.	A	T	5524.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6696643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6696643" target="_blank">rs6696643</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1459+60T>A;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460A>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460A>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460A>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460A>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460A>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460A>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361516;SAVANT_GENE=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;SAVANT_INFO=-/31.4kb/12/2.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1459+60T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL2+c.1459+60T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157718283">View</a>	GT:AD:DP:GQ:PL:TP	0|0:114,0:114:99:0,343,3834:127	0|1:47,47:94:99:1329,0,1381:127	0|1:34,37:71:99:1453,0,1083:127
1	157718325	.	T	G	3028.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3818813;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818813" target="_blank">rs3818813</a>;ExAC.Info.AC=20130;ExAC.Info.AN=126702;ExAC.Info.AF=0.159;ExAC.Info.AC_Het=16626;ExAC.Info.AC_Hom=1748;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1459+18A>C;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1460T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361516;SAVANT_GENE=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;SAVANT_INFO=-/31.4kb/12/2.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1459+18A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL2+c.1459+18A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157718325">View</a>	GT:AD:DP:GQ:PL:TP	0|0:156,0:156:99:0,468,7047:127	0|0:139,0:139:99:0,418,5509:127	0|1:55,62:117:99:1533,0,2151:127
1	157718430	.	T	G	2368.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2275232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275232" target="_blank">rs2275232</a>;ExAC.Info.AC=20138;ExAC.Info.AN=126700;ExAC.Info.AF=0.159;ExAC.Info.AC_Het=16620;ExAC.Info.AC_Hom=1750;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1394-22A>C;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:ITIM_motif_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:ITIM_motif_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361516;SAVANT_GENE=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;SAVANT_INFO=-/31.4kb/12/2.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1394-22A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL2+c.1394-22A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157718430">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2262:127	0|0:68,0:68:99:0,204,2401:127	0|1:28,38:66:99:1203,0,875:127
1	157718780	.	A	G	902.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3818814;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818814" target="_blank">rs3818814</a>;ExAC.Info.AC=20084;ExAC.Info.AN=126696;ExAC.Info.AF=0.159;ExAC.Info.AC_Het=16531;ExAC.Info.AC_Hom=1708;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1308-30T>C;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1308A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1308A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1308A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1308A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1308A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1308A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361516;SAVANT_GENE=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;SAVANT_INFO=-/31.4kb/12/2.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1308-30T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL2+c.1308-30T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157718780">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1276:119	0|0:44,0:44:99:0,132,1501:119	0|1:16,15:31:99:470,0,417:119
1	157739631	.	C	T	6703.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56360917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56360917" target="_blank">rs56360917</a>;ExAC.Info.AC=1255;ExAC.Info.AN=126682;ExAC.Info.AF=9.907e-03;ExAC.Info.AC_Het=1214;ExAC.Info.AC_Hom=13;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.595+25G>A;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.596C>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.596C>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.596C>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.596C>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.596C>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361516;SAVANT_GENE=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;SAVANT_INFO=-/31.4kb/12/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.595+25G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL2+c.595+25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157739631">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,34:72:99:979,0,1259:127	1|0:59,52:111:99:1435,0,1567:127	0|0:85,0:85:99:0,255,2905:127
1	157740186	.	GTC	G	4736.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10540465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10540465" target="_blank">rs10540465</a>;ExAC.Info.AC=60819;ExAC.Info.AN=126668;ExAC.Info.AF=0.480;ExAC.Info.AC_Het=30507;ExAC.Info.AC_Hom=15033;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.310+11_310+12delGA;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311_312delTC;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311_312delTC;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311_312delTC;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311_312delTC;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311_312delTC;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361516;SAVANT_GENE=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;SAVANT_INFO=-/31.4kb/12/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.310+11_310+12delGA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL2+c.310+11_310+12delGA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157740186">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,163,3480:127	0|1:18,27:45:99:1098,0,931:127	0|1:30,33:63:99:1295,0,1659:127
1	157740189	.	A	G	4746.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs57139984;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57139984" target="_blank">rs57139984</a>;ExAC.Info.AC=60818;ExAC.Info.AN=126668;ExAC.Info.AF=0.480;ExAC.Info.AC_Het=30511;ExAC.Info.AC_Hom=15033;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.310+10T>C;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311A>G;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361516;SAVANT_GENE=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;SAVANT_INFO=-/31.4kb/12/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.310+10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL2+c.310+10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157740189">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,3480:127	0|1:19,28:47:99:1098,0,931:127	0|1:30,33:63:99:1295,0,1659:127
1	157744142	.	A	T	1716.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6700883;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6700883" target="_blank">rs6700883</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.52+1423T>A;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53A>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53A>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53A>T;snpeff.Amino_Acid_length=508;snpeff.Gene_Name=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361516;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361516;SAVANT_GENE=FCRL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL2" target="_blank">FCRL2</a>;SAVANT_INFO=-/31.4kb/12/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.52+1423T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL2+c.52+1423T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157744142">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1724:127	0|1:31,31:62:99:877,0,812:127	0|0:58,0:58:99:0,174,1854:127
1	157768000	.	G	C	1562.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3811024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811024" target="_blank">rs3811024</a>;ExAC.Info.AC=29181;ExAC.Info.AN=126688;ExAC.Info.AF=0.230;ExAC.Info.AC_Het=22056;ExAC.Info.AC_Hom=3468;snpeff.Effect=sequence_feature[short_sequence_motif:ITIM_motif_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1065G>C;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1065G>C;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1065G>C;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1065G>C;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1065G>C;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1065G>C;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1065G>C;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acG;snpeff.Amino_Acid_Change=p.Thr355Thr/c.1065C>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368176;SAVANT_GENE=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;SAVANT_INFO=-/25.2kb/11/2.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1065C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL1+c.1065C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157768000">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1936:127	0|1:33,30:63:99:800,0,1104:127	0|0:46,0:46:99:0,138,1690:127
1	157771880	.	C	T	22430.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs4971154;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4971154" target="_blank">rs4971154</a>;ExAC.Info.AC=61850;ExAC.Info.AN=126704;ExAC.Info.AF=0.488;ExAC.Info.AC_Het=29808;ExAC.Info.AC_Hom=15999;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.711C>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.711C>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.711C>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.711C>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.711C>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.711C>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.711C>T;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro237Pro/c.711G>A;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368176;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368176;SAVANT_GENE=FCRL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL1" target="_blank">FCRL1</a>;SAVANT_INFO=-/25.2kb/11/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.711G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL1+c.711G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157771880">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3742,322,0:127	1|0:75,84:159:99:2576,0,2214:127	1|0:57,52:109:99:1606,0,1678:127
1	157802979	.	C	T	4808.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2261295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2261295" target="_blank">rs2261295</a>;ExAC.Info.AC=95602;ExAC.Info.AN=126674;ExAC.Info.AF=0.755;ExAC.Info.AC_Het=22834;ExAC.Info.AC_Hom=35981;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1039+3G>A;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=CD5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5L" target="_blank">CD5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368174;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040G>A;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=CD5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5L" target="_blank">CD5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368174;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368174;SAVANT_GENE=CD5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5L" target="_blank">CD5L</a>;SAVANT_INFO=-/10.9kb/6/2.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1039+3G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD5L+c.1039+3G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157802979">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:677,57,0:52	1|0:15,10:25:99:296,0,547:52	1|1:0,18:18:54:632,54,0:52
1	157811392	.	G	A	22453.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2260040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2260040" target="_blank">rs2260040</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.28+72C>T;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=CD5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5L" target="_blank">CD5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368174;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.29G>A;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=CD5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5L" target="_blank">CD5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368174;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.29G>A;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=CD5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5L" target="_blank">CD5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368174;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.29G>A;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=CD5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5L" target="_blank">CD5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368174;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368174;SAVANT_GENE=CD5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5L" target="_blank">CD5L</a>;SAVANT_INFO=-/10.9kb/6/2.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.28+72C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD5L+c.28+72C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:157811392">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3750,322,0:127	1|0:67,72:139:99:2114,0,1869:127	1|1:0,109:109:99:3950,328,0:127
1	158066834	.	A	G	9901.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs6427420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427420" target="_blank">rs6427420</a>;ExAC.Info.AC=9818;ExAC.Info.AN=20678;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=3915;ExAC.Info.AC_Hom=2357;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=KIRREL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIRREL" target="_blank">KIRREL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIRREL" target="_blank">KIRREL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIRREL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158066834">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1851,168,0:127	1|1:0,46:46:99:1608,138,0:127	1|0:32,23:55:99:652,0,908:127
1	158260878	.	CT	C	145.6	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs375739413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=375739413" target="_blank">rs375739413</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.62-45delT;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=CD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD1C" target="_blank">CD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368170;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delT;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=CD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD1C" target="_blank">CD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368170;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delT;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=CD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD1C" target="_blank">CD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368170;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delT;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=CD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD1C" target="_blank">CD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368170;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delT;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=CD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD1C" target="_blank">CD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368170;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delT;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=CD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD1C" target="_blank">CD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368170;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368170;SAVANT_GENE=CD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD1C" target="_blank">CD1C</a>;SAVANT_INFO=+/3.8kb/6/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.62-33delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD1C+c.62-33delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158260878">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,6:47:17:0,17,945:17	0|1:55,12:67:85:85,0,1191:17	0|0:53,8:61:54:0,54,1232:17
1	158390252	.	T	G	3128.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12239443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12239443" target="_blank">rs12239443</a>;ExAC.Info.AC=48575;ExAC.Info.AN=126692;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=28269;ExAC.Info.AC_Hom=10141;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405T>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR10K2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10K2" target="_blank">OR10K2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314902;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctC;snpeff.Amino_Acid_Change=p.Leu135Leu/c.405A>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR10K2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10K2" target="_blank">OR10K2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314902;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314902;SAVANT_GENE=OR10K2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10K2" target="_blank">OR10K2</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.405A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10K2+c.405A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158390252">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,270,2853:127	0|1:65,50:115:99:1583,0,1887:127	0|0:99,0:99:99:0,298,3353:127
1	158390501	.	G	A	4802.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=527;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34616883;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34616883" target="_blank">rs34616883</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=48280;ExAC.Info.AN=126702;ExAC.Info.AF=0.381;ExAC.Info.AC_Het=28131;ExAC.Info.AC_Hom=10064;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR10K2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10K2" target="_blank">OR10K2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314902;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp52Asp/c.156C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR10K2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10K2" target="_blank">OR10K2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314902;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314902;SAVANT_GENE=OR10K2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10K2" target="_blank">OR10K2</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.156C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10K2+c.156C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158390501">View</a>	GT:AD:DP:GQ:PL:TP	0|0:175,0:175:99:0,525,6049:127	0|1:91,93:184:99:2420,0,2811:127	0|0:168,0:168:99:0,505,6243:127
1	158435278	.	G	A	2550.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1573519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1573519" target="_blank">rs1573519</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=74;snpeff.Amino_Acid_Change=c.-74G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR10K1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10K1" target="_blank">OR10K1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289451;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289451;SAVANT_GENE=OR10K1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10K1" target="_blank">OR10K1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-74G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10K1+c.-74G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158435278">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2148:127	0|1:40,42:82:99:1294,0,1106:127	0|0:84,0:84:99:0,252,2745:127
1	158450238	.	G	A	8583.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=794;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3820678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820678" target="_blank">rs3820678</a>;ExAC.Info.AC=24954;ExAC.Info.AN=126704;ExAC.Info.AF=0.197;ExAC.Info.AC_Het=19733;ExAC.Info.AC_Hom=2608;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1840C>T;snpeff.Gene_Name=RP11-144L1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-144L14" target="_blank">RP11-144L14</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000419738;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR10R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-144L14" target="_blank">RP11-144L14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368152;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR10R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-144L14" target="_blank">RP11-144L14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368152;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala191Thr/c.571G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR10R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-144L14" target="_blank">RP11-144L14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368152;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368152;SAVANT_GENE=OR10R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10R2" target="_blank">OR10R2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.571G>A_p.Ala191Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10R2+c.571G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158450238">View</a>	GT:AD:DP:GQ:PL:TP	0|0:246,0:246:99:0,739,8373:127	0|1:141,162:303:99:4351,0,3995:127	0|0:245,0:245:99:0,735,8068:127
1	158450314	.	A	G	6586.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=610;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6679056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6679056" target="_blank">rs6679056</a>;ExAC.Info.AC=66446;ExAC.Info.AN=126696;ExAC.Info.AF=0.524;ExAC.Info.AC_Het=30895;ExAC.Info.AC_Hom=17757;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1764T>C;snpeff.Gene_Name=RP11-144L1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-144L14" target="_blank">RP11-144L14</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000419738;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.647A>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR10R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-144L14" target="_blank">RP11-144L14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368152;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu216Gly/c.647A>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR10R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-144L14" target="_blank">RP11-144L14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368152;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368152;SAVANT_GENE=OR10R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10R2" target="_blank">OR10R2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.647A>G_p.Glu216Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10R2+c.647A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158450314">View</a>	GT:AD:DP:GQ:PL:TP	0|0:182,0:182:99:0,547,6097:127	0|1:127,111:238:99:3312,0,3480:127	0|0:190,0:190:99:0,571,6550:127
1	158450382	.	C	T	3914.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=425;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1418843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1418843" target="_blank">rs1418843</a>;ExAC.Info.AC=56048;ExAC.Info.AN=126704;ExAC.Info.AF=0.442;ExAC.Info.AC_Het=30760;ExAC.Info.AC_Hom=12617;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1696G>A;snpeff.Gene_Name=RP11-144L1.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-144L14" target="_blank">RP11-144L14</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000419738;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.715C>T;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR10R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-144L14" target="_blank">RP11-144L14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368152;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu239Phe/c.715C>T;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR10R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-144L14" target="_blank">RP11-144L14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368152;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368152;SAVANT_GENE=OR10R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10R2" target="_blank">OR10R2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.715C>T_p.Leu239Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10R2+c.715C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158450382">View</a>	GT:AD:DP:GQ:PL:TP	0|0:136,0:136:99:0,409,4877:127	0|1:88,68:156:99:1976,0,3006:127	0|0:133,0:133:99:0,400,5106:127
1	158507157	.	A	T	5086.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2051665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2051665" target="_blank">rs2051665</a>;ExAC.Info.AC=64182;ExAC.Info.AN=116408;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=27856;ExAC.Info.AC_Hom=17827;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2051665" target="_blank">rs2051665</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158507157">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,343,5063:127	0|1:60,62:122:99:2562,0,2321:127	0|0:110,0:110:99:0,334,4970:127
1	158507160	.	T	G	5194.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2051666;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2051666" target="_blank">rs2051666</a>;ExAC.Info.AC=64213;ExAC.Info.AN=116388;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=27852;ExAC.Info.AC_Hom=17844;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2051666" target="_blank">rs2051666</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158507160">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,343,5063:127	0|1:60,68:128:99:2616,0,2315:127	0|0:113,0:113:99:0,343,5052:127
1	158507184	.	A	G	5576.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=465;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2051068;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2051068" target="_blank">rs2051068</a>;ExAC.Info.AC=54474;ExAC.Info.AN=116398;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=28311;ExAC.Info.AC_Hom=12877;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2051068" target="_blank">rs2051068</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158507184">View</a>	GT:AD:DP:GQ:PL:TP	0|0:138,1:139:99:0,408,4549:127	0|1:77,93:170:99:2807,0,2101:127	0|0:156,0:156:99:0,468,5216:127
1	158507222	.	GA	G	5317.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=556;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs5778082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5778082" target="_blank">rs5778082</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5778082" target="_blank">rs5778082</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158507222">View</a>	GT:AD:DP:GQ:PL:TP	0|0:163,0:163:99:0,490,4955:127	0|1:89,112:201:99:2682,0,2106:127	0|0:192,0:192:99:0,577,5854:127
1	158533140	.	A	G	2512.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12080815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12080815" target="_blank">rs12080815</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=13649;ExAC.Info.AN=30942;ExAC.Info.AF=0.441;ExAC.Info.AC_Het=6037;ExAC.Info.AC_Hom=2849;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.255A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR6P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6P1" target="_blank">OR6P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334632;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe85Phe/c.255T>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR6P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6P1" target="_blank">OR6P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334632;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334632;SAVANT_GENE=OR6P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6P1" target="_blank">OR6P1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.255T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6P1+c.255T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158533140">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,252,2872:127	0|1:56,42:98:99:1275,0,1615:127	0|0:97,0:97:99:0,292,3283:127
1	158533224	.	A	G	2712.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12081915;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12081915" target="_blank">rs12081915</a>;ExAC.Info.AC=13733;ExAC.Info.AN=29478;ExAC.Info.AF=0.466;ExAC.Info.AC_Het=5963;ExAC.Info.AC_Hom=2962;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.171A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR6P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6P1" target="_blank">OR6P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334632;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg57Arg/c.171T>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR6P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6P1" target="_blank">OR6P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334632;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334632;SAVANT_GENE=OR6P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6P1" target="_blank">OR6P1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.171T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6P1+c.171T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158533224">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,276,2940:127	0|1:66,49:115:99:1375,0,1850:127	0|0:112,0:112:99:0,336,3687:127
1	158548788	.	A	G	6350.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72698782;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72698782" target="_blank">rs72698782</a>;ExAC.Info.AC=1;ExAC.Info.AN=126696;ExAC.Info.AF=7.893e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.902A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368150;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile301Thr/c.902T>C;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368150;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368150;SAVANT_GENE=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.902T>C_p.Ile301Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10X1+c.902T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158548788">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,40:84:99:1078,0,1156:127	0|0:106,0:106:99:0,318,3583:127	1|0:43,43:86:99:1321,0,1197:127
1	158549264	.	G	A	2780.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs863360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=863360" target="_blank">rs863360</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=60581;ExAC.Info.AN=126700;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=31143;ExAC.Info.AC_Hom=14668;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.426G>A;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368150;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.426G>A;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368150;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile142Ile/c.426C>T;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368150;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368150;SAVANT_GENE=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.426C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10X1+c.426C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158549264">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,2943:127	0|1:46,52:98:99:1409,0,1511:127	0|0:91,0:91:99:0,273,3257:127
1	158549420	.	C	T	3550.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs863361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=863361" target="_blank">rs863361</a>;ExAC.Info.AC=61147;ExAC.Info.AN=126702;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=31032;ExAC.Info.AC_Hom=15013;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.270C>T;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368150;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr90Thr/c.270G>A;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368150;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368150;SAVANT_GENE=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.270G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10X1+c.270G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158549420">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,312,3787:127	0|1:73,64:137:99:1794,0,2124:127	0|0:120,0:120:99:0,361,4308:127
1	158549492	.	C	T	5576.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=508;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs863362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=863362" target="_blank">rs863362</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Olfactory_receptor_deficiency;hgmd_2014.2.PubMed=12730696;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12730696" target="_blank">12730696</a>;ExAC.Info.AC=60584;ExAC.Info.AN=126686;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=31138;ExAC.Info.AC_Hom=14666;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.198C>T;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368150;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=tgG/tgA;snpeff.Amino_Acid_Change=p.Trp66*/c.198G>A;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368150;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368150;SAVANT_GENE=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.198G>A_p.Trp66X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10X1+c.198G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158549492">View</a>	GT:AD:DP:GQ:PL:TP	0|0:157,0:157:99:0,493,7110:127	0|1:108,74:182:99:2807,0,4323:127	0|0:169,0:169:99:0,515,7529:127
1	158549511	.	A	G	6354.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=586;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs863363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=863363" target="_blank">rs863363</a>;ExAC.Info.AC=61164;ExAC.Info.AN=126692;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=31020;ExAC.Info.AC_Hom=15032;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.179A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368150;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile60Thr/c.179T>C;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368150;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368150;SAVANT_GENE=OR10X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10X1" target="_blank">OR10X1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.179T>C_p.Ile60Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10X1+c.179T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158549511">View</a>	GT:AD:DP:GQ:PL:TP	0|0:189,0:189:99:0,575,7998:127	0|1:116,88:204:99:3196,0,4330:127	0|0:193,0:193:99:0,590,8319:127
1	158577167	.	A	T	4846.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2427808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2427808" target="_blank">rs2427808</a>;ExAC.Info.AC=15295;ExAC.Info.AN=126626;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=13135;ExAC.Info.AC_Hom=1051;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.939A>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR10Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10Z1" target="_blank">OR10Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361284;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggT;snpeff.Amino_Acid_Change=p.Gly313Gly/c.939A>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR10Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10Z1" target="_blank">OR10Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361284;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361284;SAVANT_GENE=OR10Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10Z1" target="_blank">OR10Z1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.939A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10Z1+c.939A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158577167">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,25:47:99:763,0,562:127	1|0:31,43:74:99:1254,0,832:127	0|0:64,0:64:99:0,192,2286:127
1	158582646	.	T	C	10368.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=894;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs2251969;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2251969" target="_blank">rs2251969</a>;ExAC.Info.AC=67507;ExAC.Info.AN=125200;ExAC.Info.AF=0.539;ExAC.Info.AC_Het=30273;ExAC.Info.AC_Hom=18579;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala2365Ala/c.7095A>G;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=Ex51;SAVANT_HGVS=c.7095A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.7095A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158582646">View</a>	GT:AD:DP:GQ:PL:TP	0|0:283,0:283:99:0,850,9856:127	0|1:181,182:363:99:5203,0,5368:127	0|0:248,0:248:99:0,745,9154:127
1	158584091	.	A	G	5110.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=769;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs952094;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=952094" target="_blank">rs952094</a>;ExAC.Info.AC=67407;ExAC.Info.AN=125090;ExAC.Info.AF=0.539;ExAC.Info.AC_Het=30231;ExAC.Info.AC_Hom=18391;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile2265Thr/c.6794T>C;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=Ex49;SAVANT_HGVS=c.6794T>C_p.Ile2265Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.6794T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158584091">View</a>	GT:AD:DP:GQ:PL:TP	0|0:245,0:245:99:0,734,7972:127	0|1:140,98:238:99:2574,0,4116:127	0|0:286,0:286:99:0,858,9598:127
1	158584103	.	G	GA	2801.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=633;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs57778257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57778257" target="_blank">rs57778257</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6789-7_6789-8insT;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6789_6790insT;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In48/49;SAVANT_HGVS=c.6789-8dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.6789-8dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158584103">View</a>	GT:AD:DP:GQ:PL:TP	0|0:196,8:204:99:0,442,4751:127	0|1:121,84:205:99:1424,0,2356:127	0|0:215,9:224:99:0,429,5128:127
1	158587390	.	C	T	3922.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs857716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=857716" target="_blank">rs857716</a>;ExAC.Info.AC=66859;ExAC.Info.AN=125172;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=30188;ExAC.Info.AC_Hom=18058;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6549-12G>A;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In46/47;SAVANT_HGVS=c.6549-12G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.6549-12G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158587390">View</a>	GT:AD:DP:GQ:PL:TP	0|0:154,0:154:99:0,463,5394:127	0|1:98,74:172:99:1980,0,2948:127	0|0:165,0:165:99:0,496,5819:127
1	158587784	.	T	G	13450.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs857717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=857717" target="_blank">rs857717</a>;ExAC.Info.AC=125076;ExAC.Info.AN=125094;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=17;ExAC.Info.AC_Hom=62370;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6548+45A>C;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In46/47;SAVANT_HGVS=c.6548+45A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.6548+45A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158587784">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1904,147,0:127	1|1:0,60:60:99:2215,180,0:127	1|1:0,50:50:99:1939,150,0:127
1	158587858	.	G	A	2992.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs28525570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28525570" target="_blank">rs28525570</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_expression;hgmd_2014.2.OMIM_ID=182860;hgmd_2014.2.PubMed=10192450;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10192450" target="_blank">10192450</a>;ExAC.Info.AC=32184;ExAC.Info.AN=125176;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=23454;ExAC.Info.AC_Hom=4342;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6531-12C>T;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In45/46;SAVANT_HGVS=c.6531-12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.6531-12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158587858">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,324,3488:127	0|1:50,57:107:99:1515,0,1425:127	0|0:93,0:93:99:0,279,3105:127
1	158592935	.	G	A	9028.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=801;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs3753068;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753068" target="_blank">rs3753068</a>;ExAC.Info.AC=37032;ExAC.Info.AN=125222;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=25436;ExAC.Info.AC_Hom=5783;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro1986Pro/c.5958C>T;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=Ex43;SAVANT_HGVS=c.5958C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.5958C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158592935">View</a>	GT:AD:DP:GQ:PL:TP	0|0:254,0:254:99:0,763,8553:127	0|1:149,152:301:99:4533,0,4109:127	0|0:246,0:246:99:0,739,8196:127
1	158597507	.	G	C	13236.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=975;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3737515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737515" target="_blank">rs3737515</a>;ExAC.Info.AC=32180;ExAC.Info.AN=125164;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=23454;ExAC.Info.AC_Hom=4356;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cta/Gta;snpeff.Amino_Acid_Change=p.Leu1858Val/c.5572C>G;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=Ex40;SAVANT_HGVS=c.5572C>G_p.Leu1858Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.5572C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158597507">View</a>	GT:AD:DP:GQ:PL:TP	0|0:292,0:292:99:0,878,10624:127	0|1:169,224:393:99:6637,0,4932:127	0|0:290,0:290:99:0,871,10243:127
1	158606449	.	G	T	6816.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=843;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs3738791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738791" target="_blank">rs3738791</a>;ExAC.Info.AC=37334;ExAC.Info.AN=125242;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=25461;ExAC.Info.AC_Hom=5919;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcA;snpeff.Amino_Acid_Change=p.Ala1764Ala/c.5292C>A;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.5292C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.5292C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158606449">View</a>	GT:AD:DP:GQ:PL:TP	0|0:250,1:251:99:0,714,8942:127	0|1:186,133:319:99:3427,0,5451:127	0|0:273,0:273:99:0,819,9297:127
1	158607788	.	T	G	10652.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs2518492;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2518492" target="_blank">rs2518492</a>;ExAC.Info.AC=124901;ExAC.Info.AN=124924;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=23;ExAC.Info.AC_Hom=62318;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5189+35A>C;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In36/37;SAVANT_HGVS=c.5189+35A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.5189+35A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158607788">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1144,90,0:127	1|1:0,45:45:99:1668,135,0:127	1|1:0,49:49:99:1878,147,0:127
1	158609300	.	C	G	4320.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs17635857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17635857" target="_blank">rs17635857</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4980+72G>C;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.4980+72G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.4980+72G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158609300">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,276,3180:127	0|1:54,76:130:99:2179,0,1561:127	0|0:115,0:115:99:0,345,4209:127
1	158612236	.	A	G	3252.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=458;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs863931;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=863931" target="_blank">rs863931</a>;ExAC.Info.AC=72543;ExAC.Info.AN=125212;ExAC.Info.AF=0.579;ExAC.Info.AC_Het=29894;ExAC.Info.AC_Hom=21279;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys1568Arg/c.4702T>C;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=Ex33;SAVANT_HGVS=c.4702T>C_p.Cys1568Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.4702T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158612236">View</a>	GT:AD:DP:GQ:PL:TP	0|0:140,0:140:99:0,420,4636:127	0|1:118,59:177:99:1645,0,3504:127	0|0:141,0:141:99:0,424,4912:127
1	158614198	.	C	T	2568.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs6702040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702040" target="_blank">rs6702040</a>;ExAC.Info.AC=37271;ExAC.Info.AN=125210;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=25414;ExAC.Info.AC_Hom=5902;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4195-12G>A;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.4195-12G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.4195-12G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158614198">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,157,2221:127	0|1:52,44:96:99:1303,0,1696:127	0|0:75,0:75:99:0,225,2814:127
1	158618480	.	A	T	3010.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs11265044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11265044" target="_blank">rs11265044</a>;ExAC.Info.AC=30828;ExAC.Info.AN=125166;ExAC.Info.AF=0.246;ExAC.Info.AC_Het=22876;ExAC.Info.AC_Hom=3884;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3570-37T>A;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3570-37T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.3570-37T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158618480">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,264,2871:127	0|1:77,56:133:99:1524,0,2115:127	0|0:91,0:91:99:0,273,3024:127
1	158619728	.	A	C	26832.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2482965;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2482965" target="_blank">rs2482965</a>;ExAC.Info.AC=124826;ExAC.Info.AN=125052;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=202;ExAC.Info.AC_Hom=61412;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Gcc;snpeff.Amino_Acid_Change=p.Ser1163Ala/c.3487T>G;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.3487T>G_p.Ser1163Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.3487T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158619728">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3503,291,0:127	1|1:0,134:134:99:4763,403,0:127	1|1:0,80:80:99:2891,240,0:127
1	158637865	.	GA	G	4028.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs5778087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5778087" target="_blank">rs5778087</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1834-14delT;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1834-14delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.1834-14delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158637865">View</a>	GT:AD:DP:GQ:PL:TP	0/1:72,30:102:99:363,0,1260:127	0/1:64,77:141:99:1264,0,930:127	0/1:75,30:105:99:371,0,1345:127
1	158639601	.	A	G	13144.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs2298801;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298801" target="_blank">rs2298801</a>;ExAC.Info.AC=55077;ExAC.Info.AN=125150;ExAC.Info.AF=0.440;ExAC.Info.AC_Het=30038;ExAC.Info.AC_Hom=12439;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1600-25T>C;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1600-25T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.1600-25T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158639601">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2706,228,0:127	1|0:45,49:94:99:1561,0,1354:127	1|0:32,35:67:99:1153,0,946:127
1	158644105	.	T	A	22838.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=482;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs703116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=703116" target="_blank">rs703116</a>;ExAC.Info.AC=49902;ExAC.Info.AN=125162;ExAC.Info.AF=0.399;ExAC.Info.AC_Het=28625;ExAC.Info.AC_Hom=10626;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1350+14A>T;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1350+14A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.1350+14A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158644105">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4119,387,0:127	1|0:101,82:183:99:2161,0,2836:127	1|0:80,90:170:99:2419,0,2261:127
1	158647495	.	A	T	50535.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=644;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs325996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=325996" target="_blank">rs325996</a>;ExAC.Info.AC=123269;ExAC.Info.AN=125164;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1648;ExAC.Info.AC_Hom=60517;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcA;snpeff.Amino_Acid_Change=p.Ala314Ala/c.942T>A;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.942T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.942T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158647495">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,211:211:99:7200,633,0:127	1|1:0,247:247:99:8529,742,0:127	1|1:0,186:186:99:6611,559,0:127
1	158647522	.	A	G	10592.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=615;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs703121;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=703121" target="_blank">rs703121</a>;ExAC.Info.AC=68316;ExAC.Info.AN=125202;ExAC.Info.AF=0.546;ExAC.Info.AC_Het=29550;ExAC.Info.AC_Hom=19243;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser305Ser/c.915T>C;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.915T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.915T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158647522">View</a>	GT:AD:DP:GQ:PL:TP	0|0:197,0:197:99:0,592,6514:127	0|1:129,104:233:99:3013,0,3571:127	0|1:108,77:185:99:2303,0,3262:127
1	158647631	.	T	A	48908.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=667;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs325995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=325995" target="_blank">rs325995</a>;ExAC.Info.AC=123329;ExAC.Info.AN=125222;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1648;ExAC.Info.AC_Hom=60724;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.813-7A>T;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.813A>T;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.813-7A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.813-7A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158647631">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,220:220:99:7234,661,0:127	1|1:0,263:263:99:8787,789,0:127	1|1:0,184:184:99:6288,553,0:127
1	158647669	.	T	C	12296.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=641;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs703122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=703122" target="_blank">rs703122</a>;ExAC.Info.AC=68337;ExAC.Info.AN=125296;ExAC.Info.AF=0.545;ExAC.Info.AC_Het=29554;ExAC.Info.AC_Hom=19274;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.813-45A>G;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.813-45A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.813-45A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158647669">View</a>	GT:AD:DP:GQ:PL:TP	0|0:207,0:207:99:0,622,7069:127	0|1:139,114:253:99:3374,0,3850:127	0|1:88,93:181:99:2794,0,2460:127
1	158655036	.	G	A	78906.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs435080;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=435080" target="_blank">rs435080</a>;ExAC.Info.AC=124285;ExAC.Info.AN=125282;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=916;ExAC.Info.AC_Hom=61567;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val42Val/c.126C>T;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.126C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.126C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158655036">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,371:371:99:12309,1115,0:127	1|1:0,393:393:99:13732,1180,0:127	1|1:0,340:340:99:11881,1022,0:127
1	158655162	.	C	A	26038.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs2564859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2564859" target="_blank">rs2564859</a>;ExAC.Info.AC=124184;ExAC.Info.AN=125182;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=917;ExAC.Info.AC_Hom=61453;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.25-25G>T;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.25-25G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.25-25G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158655162">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:3749,328,0:127	1|1:0,132:132:99:4785,397,0:127	1|1:0,90:90:99:3362,271,0:127
1	158656281	.	T	C	21031.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs2564858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2564858" target="_blank">rs2564858</a>;ExAC.Info.AC=124097;ExAC.Info.AN=125094;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=919;ExAC.Info.AC_Hom=61473;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.24+3A>G;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.24+3A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.24+3A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158656281">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2849,234,0:127	1|1:0,109:109:99:4298,328,0:127	1|1:0,94:94:99:3583,283,0:127
1	158656347	.	C	CAGAG	23043.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=395;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs111674514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111674514" target="_blank">rs111674514</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=41;snpeff.Amino_Acid_Change=c.-41_-42insCTCT;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44_-41dupCTCT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.-44_-41dupCTCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158656347">View</a>	GT:AD:DP:GQ:PL	./1:4,95:109:65:2868,207,65	./1:5,125:147:99:4048,339,171	./1:1,124:139:93:4225,382,93
1	158656347	.	C	CAG	23043.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=395;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=41;snpeff.Amino_Acid_Change=c.-41_-42insCT;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-42_-41dupCT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.-42_-41dupCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158656347">View</a>	GT:AD:DP:GQ:PL	./1:4,10:109:65:2868,2619,3073	./1:5,17:147:99:4048,3520,4002	./1:1,14:139:93:4225,3671,3881
1	158656432	.	G	GA	4962.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Elliptocytosis-2|_130600_(3)|_Pyropoikilocytosis|_266140_(3)|_Spherocytosis|_type_3|_270970_(3);dbSNP139.ID=rs367824971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=367824971" target="_blank">rs367824971</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=126;snpeff.Amino_Acid_Change=c.-126_-127insT;snpeff.Amino_Acid_length=2419;snpeff.Gene_Name=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368147;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368148;SAVANT_GENE=SPTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTA1" target="_blank">SPTA1</a>;SAVANT_INFO=-/76.2kb/52/8.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-126dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTA1+c.-126dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158656432">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,1:150:99:0,439,3785:127	0|1:102,76:178:99:1465,0,2059:127	0|1:84,57:141:99:1041,0,1733:127
1	158687896	.	C	T	6600.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs857705;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=857705" target="_blank">rs857705</a>;ExAC.Info.AC=26058;ExAC.Info.AN=126604;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=20265;ExAC.Info.AC_Hom=2829;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58C>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=OR6K3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6K3" target="_blank">OR6K3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368146;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly20Arg/c.58G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=OR6K3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6K3" target="_blank">OR6K3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368146;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368145;SAVANT_GENE=OR6K3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6K3" target="_blank">OR6K3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.10G>A_p.Gly4Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6K3+c.10G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158687896">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,3632:127	0|1:82,66:148:99:1830,0,2347:127	0|1:60,50:110:99:1490,0,1652:127
1	158735595	.	C	T	12896.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs857824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=857824" target="_blank">rs857824</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=86179;ExAC.Info.AN=126704;ExAC.Info.AF=0.680;ExAC.Info.AC_Het=26178;ExAC.Info.AC_Hom=29999;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.878C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg293His/c.878G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335094;SAVANT_GENE=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.878G>A_p.Arg293His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6N1+c.878G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158735595">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1815,165,0:108	1|1:0,69:69:99:2267,207,0:108	1|1:0,36:36:99:1265,108,0:108
1	158735691	.	T	C	16346.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs857825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=857825" target="_blank">rs857825</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=86176;ExAC.Info.AN=126704;ExAC.Info.AF=0.680;ExAC.Info.AC_Het=26175;ExAC.Info.AC_Hom=29999;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln261Arg/c.782A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335094;SAVANT_GENE=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.782A>G_p.Gln261Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6N1+c.782A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158735691">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1990,171,0:127	1|1:0,81:81:99:2672,243,0:127	1|1:0,52:52:99:1895,156,0:127
1	158735740	.	A	G	17942.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs857826;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=857826" target="_blank">rs857826</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=86180;ExAC.Info.AN=126700;ExAC.Info.AF=0.680;ExAC.Info.AC_Het=26171;ExAC.Info.AC_Hom=29993;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.733A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe245Leu/c.733T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335094;SAVANT_GENE=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.733T>C_p.Phe245Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6N1+c.733T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158735740">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2216,174,0:127	1|1:0,82:82:99:2933,246,0:127	1|1:0,58:58:99:2068,174,0:127
1	158735892	.	A	G	21773.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs857827;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=857827" target="_blank">rs857827</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=86179;ExAC.Info.AN=126702;ExAC.Info.AF=0.680;ExAC.Info.AC_Het=26164;ExAC.Info.AC_Hom=29981;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.581A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile194Thr/c.581T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335094;SAVANT_GENE=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.581T>C_p.Ile194Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6N1+c.581T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158735892">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2885,240,0:127	1|1:0,94:94:99:3271,282,0:127	1|1:0,87:87:99:3114,261,0:127
1	158736215	.	G	A	18325.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6666753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6666753" target="_blank">rs6666753</a>;ExAC.Info.AC=110400;ExAC.Info.AN=126704;ExAC.Info.AF=0.871;ExAC.Info.AC_Het=12684;ExAC.Info.AC_Hom=48847;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu86Leu/c.258C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335094;SAVANT_GENE=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.258C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6N1+c.258C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158736215">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2412,225,0:127	1|1:0,95:95:99:3223,286,0:127	1|1:0,62:62:99:2112,186,0:127
1	158736445	.	C	T	9089.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=133;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1864346;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1864346" target="_blank">rs1864346</a>;ExAC.Info.AC=37530;ExAC.Info.AN=126588;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=24942;ExAC.Info.AC_Hom=5950;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala10Thr/c.28G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335094;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335094;SAVANT_GENE=OR6N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6N1" target="_blank">OR6N1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.28G>A_p.Ala10Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6N1+c.28G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158736445">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,32:34:53:1112,53,0:53	1|0:26,35:61:99:938,0,661:53	1|1:0,38:38:99:1404,114,0:53
1	158813819	.	A	G	18344.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs857870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=857870" target="_blank">rs857870</a>;ExAC.Info.AC=71207;ExAC.Info.AN=126704;ExAC.Info.AF=0.562;ExAC.Info.AC_Het=30549;ExAC.Info.AC_Hom=20320;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro159Pro/c.477A>G;snpeff.Amino_Acid_length=407;snpeff.Gene_Name=MNDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MNDA" target="_blank">MNDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368141;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368141;SAVANT_GENE=MNDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MNDA" target="_blank">MNDA</a>;SAVANT_INFO=+/18.2kb/7/1.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.477A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MNDA+c.477A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158813819">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2850,264,0:127	1|0:79,60:139:99:1564,0,2200:127	1|1:0,83:83:99:2722,249,0:127
1	158818905	.	T	G	312.24	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs201200742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201200742" target="_blank">rs201200742</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1177-75T>G;snpeff.Amino_Acid_length=407;snpeff.Gene_Name=MNDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MNDA" target="_blank">MNDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368141;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177T>G;snpeff.Amino_Acid_length=407;snpeff.Gene_Name=MNDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MNDA" target="_blank">MNDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368141;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177T>G;snpeff.Amino_Acid_length=407;snpeff.Gene_Name=MNDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MNDA" target="_blank">MNDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368141;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177T>G;snpeff.Amino_Acid_length=407;snpeff.Gene_Name=MNDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MNDA" target="_blank">MNDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368141;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368141;SAVANT_GENE=MNDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MNDA" target="_blank">MNDA</a>;SAVANT_INFO=+/18.2kb/7/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1177-75T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MNDA+c.1177-75T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158818905">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,11:35:99:100,0,739:17	1|0:35,19:54:99:104,0,997:17	0|0:25,8:33:17:0,17,633:17
1	158943382	.	C	A	5301.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12071136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12071136" target="_blank">rs12071136</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1360-55C>A;snpeff.Amino_Acid_length=492;snpeff.Gene_Name=PYHIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PYHIN1" target="_blank">PYHIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368140;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368140;SAVANT_GENE=PYHIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PYHIN1" target="_blank">PYHIN1</a>;SAVANT_INFO=+/45.5kb/9/2.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1360-55C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PYHIN1+c.1360-55C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158943382">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,29:71:99:764,0,1199:127	1|0:35,46:81:99:1398,0,1029:127	0|0:61,0:61:99:0,183,2203:127
1	158985652	.	T	C	7373.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=324;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4262539;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4262539" target="_blank">rs4262539</a>;ExAC.Info.AC=10532;ExAC.Info.AN=126692;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=9500;ExAC.Info.AC_Hom=501;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.266-10T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.266T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368131;SAVANT_GENE=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;SAVANT_INFO=+/45.3kb/11/2.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.266-10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI16+c.266-10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158985652">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,40:92:99:1149,0,1399:127	1|0:69,58:127:99:1708,0,1838:127	0|0:105,0:105:99:0,315,3316:127
1	158986477	.	G	C	15261.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=408;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs866484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=866484" target="_blank">rs866484</a>;ExAC.Info.AC=92350;ExAC.Info.AN=126704;ExAC.Info.AF=0.729;ExAC.Info.AC_Het=23638;ExAC.Info.AC_Hom=34347;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aCt;snpeff.Amino_Acid_Change=p.Ser179Thr/c.536G>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368131;SAVANT_GENE=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;SAVANT_INFO=+/45.3kb/11/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.536G>C_p.Ser179Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI16+c.536G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158986477">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,45:108:99:1206,0,1831:127	0/1:78,75:153:99:2410,0,2345:127	0/1:67,80:147:99:2546,0,2003:127
1	158986561	.	C	T	7564.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs16841500;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16841500" target="_blank">rs16841500</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.549+71C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368131;SAVANT_GENE=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;SAVANT_INFO=+/45.3kb/11/2.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.549+71C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI16+c.549+71C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158986561">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,41:86:99:1088,0,1266:127	1|0:55,58:113:99:1702,0,1781:127	0|0:115,0:115:99:0,346,4152:127
1	158988270	.	T	C	6360.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11539423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11539423" target="_blank">rs11539423</a>;ExAC.Info.AC=6096;ExAC.Info.AN=126702;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=5724;ExAC.Info.AC_Hom=184;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.801T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53_C-terminus];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.801T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53_C-terminus];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.801T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53_C-terminus];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.801T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.801T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.801T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.801T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr267Tyr/c.801T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368131;SAVANT_GENE=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;SAVANT_INFO=+/45.3kb/11/2.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.801T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI16+c.801T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:158988270">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,38:81:99:1136,0,1186:127	1|0:41,46:87:99:1398,0,1191:127	0|0:93,0:93:99:0,279,3179:127
1	159002301	.	T	C	14480.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=439;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2518553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2518553" target="_blank">rs2518553</a>;ExAC.Info.AC=96605;ExAC.Info.AN=126484;ExAC.Info.AF=0.764;ExAC.Info.AC_Het=19579;ExAC.Info.AC_Hom=36062;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1162-13T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1162T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1162T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53_C-terminus];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1162T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53_C-terminus];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1162T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53_C-terminus];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1162T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1162T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1162T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1162T>C;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368131;SAVANT_GENE=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;SAVANT_INFO=+/45.3kb/11/2.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1162-13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI16+c.1162-13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159002301">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,76:139:99:2162,0,1621:127	0/1:87,83:170:99:2467,0,2425:127	0/1:64,66:130:99:1880,0,1730:127
1	159002377	.	C	A	28890.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=631;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1057027;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057027" target="_blank">rs1057027</a>;ExAC.Info.AC=97313;ExAC.Info.AN=126704;ExAC.Info.AF=0.768;ExAC.Info.AC_Het=20425;ExAC.Info.AC_Hom=38409;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Agt;snpeff.Amino_Acid_Change=p.Arg409Ser/c.1225C>A;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368131;SAVANT_GENE=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;SAVANT_INFO=+/45.3kb/11/2.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1225C>A_p.Arg409Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI16+c.1225C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159002377">View</a>	GT:AD:DP:GQ:PL:TP	0/1:97,109:206:99:4232,0,3602:127	0/1:105,123:228:99:4736,0,3929:127	0/1:100,97:197:99:3658,0,3791:127
1	159002389	.	T	A	27593.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=597;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1057028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057028" target="_blank">rs1057028</a>;ExAC.Info.AC=97323;ExAC.Info.AN=126704;ExAC.Info.AF=0.768;ExAC.Info.AC_Het=20424;ExAC.Info.AC_Hom=38423;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Aat;snpeff.Amino_Acid_Change=p.Tyr413Asn/c.1237T>A;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368131;SAVANT_GENE=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;SAVANT_INFO=+/45.3kb/11/2.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1237T>A_p.Tyr413Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI16+c.1237T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159002389">View</a>	GT:AD:DP:GQ:PL:TP	0/1:92,102:194:99:3954,0,3475:127	0/1:102,118:220:99:4562,0,3854:127	0/1:93,90:183:99:3507,0,3626:127
1	159021506	.	C	T	18476.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=593;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs62621173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62621173" target="_blank">rs62621173</a>;ExAC.Info.AC=4417;ExAC.Info.AN=126692;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=4215;ExAC.Info.AC_Hom=102;snpeff.Effect=sequence_feature[domain:HIN-200_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1703C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1703C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1703C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tTc;snpeff.Amino_Acid_Change=p.Ser568Phe/c.1703C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368131;SAVANT_GENE=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;SAVANT_INFO=+/45.3kb/11/2.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1535C>T_p.Ser512Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI16+c.1535C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159021506">View</a>	GT:AD:DP:GQ:PL:TP	0/1:85,92:177:99:2459,0,2509:127	0/1:112,102:214:99:2818,0,3312:127	0/1:104,98:202:99:2571,0,2919:127
1	159022166	.	C	T	3801.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs41264141;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264141" target="_blank">rs41264141</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2085+278C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53_core_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53_core_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_TP53_core_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HIN-200_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=785;snpeff.Gene_Name=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295809;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368131;SAVANT_GENE=IFI16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFI16" target="_blank">IFI16</a>;SAVANT_INFO=+/45.3kb/11/2.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1917+278C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFI16+c.1917+278C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159022166">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,19:44:99:520,0,788:127	0/1:34,24:58:99:600,0,940:127	0/1:25,26:51:99:705,0,687:127
1	159169463	.	C	T	888.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3027001;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3027001" target="_blank">rs3027001</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1147+113G>A;snpeff.Gene_Name=CTA-134P22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTA-134P222" target="_blank">CTA-134P222</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415675;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1055-78C>T;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTA-134P222" target="_blank">CTA-134P222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368124;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368124;SAVANT_GENE=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CADM3" target="_blank">CADM3</a>;SAVANT_INFO=+/30.4kb/10/2.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1055-78C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CADM3+c.1055-78C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159169463">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1533:127	0|0:68,0:68:99:0,204,2335:127	0|1:19,17:36:99:463,0,515:127
1	159169641	.	T	C	4255.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs862999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=862999" target="_blank">rs862999</a>;ExAC.Info.AC=97986;ExAC.Info.AN=126704;ExAC.Info.AF=0.773;ExAC.Info.AC_Het=21597;ExAC.Info.AC_Hom=38125;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1082A>G;snpeff.Gene_Name=CTA-134P22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTA-134P222" target="_blank">CTA-134P222</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415675;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTA-134P222" target="_blank">CTA-134P222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368124;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu385Leu/c.1155T>C;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTA-134P222" target="_blank">CTA-134P222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368124;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368124;SAVANT_GENE=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CADM3" target="_blank">CADM3</a>;SAVANT_INFO=+/30.4kb/10/2.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1155T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CADM3+c.1155T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159169641">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,14:38:99:408,0,634:93	0|1:25,14:39:99:314,0,827:93	1|1:0,31:31:93:1103,93,0:93
1	159170533	.	C	A	1348.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34710501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34710501" target="_blank">rs34710501</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1181-61C>A;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CADM3" target="_blank">CADM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368124;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1073+69G>T;snpeff.Gene_Name=CTA-134P22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CADM3" target="_blank">CADM3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415675;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1181C>A;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CADM3" target="_blank">CADM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368124;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1181C>A;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CADM3" target="_blank">CADM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368124;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368124;SAVANT_GENE=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CADM3" target="_blank">CADM3</a>;SAVANT_INFO=+/30.4kb/10/2.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1181-61C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CADM3+c.1181-61C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159170533">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1238:92	0|1:21,24:45:99:693,0,703:92	0|0:31,0:31:93:0,93,1162:92
1	159170649	.	G	A	2700.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35256099;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35256099" target="_blank">rs35256099</a>;ExAC.Info.AC=2546;ExAC.Info.AN=126704;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=2475;ExAC.Info.AC_Hom=34;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1026C>T;snpeff.Gene_Name=CTA-134P22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTA-134P222" target="_blank">CTA-134P222</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415675;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1236G>A;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTA-134P222" target="_blank">CTA-134P222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368124;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1236G>A;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTA-134P222" target="_blank">CTA-134P222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368124;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr412Thr/c.1236G>A;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTA-134P222" target="_blank">CTA-134P222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368124;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368124;SAVANT_GENE=CADM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CADM3" target="_blank">CADM3</a>;SAVANT_INFO=+/30.4kb/10/2.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1236G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CADM3+c.1236G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159170649">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2301:127	0|1:36,48:84:99:1369,0,1003:127	0|0:84,0:84:99:0,252,2607:127
1	159174824	.	G	C	51496.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=629;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=[Blood_group|_Duffy_system]|_110700_(3)|_{Malaria|_vivax|_protection_against}|_611162_(3)|_[White_blood_cell_count_QTL]|_611862_(3);dbSNP139.ID=rs863001;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=863001" target="_blank">rs863001</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DARC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARC" target="_blank">DARC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CTA-134P22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARC" target="_blank">DARC</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARC" target="_blank">DARC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DARC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159174824">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,191:191:99:6666,577,0:127	1|1:0,256:256:99:8853,769,0:127	1|1:0,182:182:99:6360,547,0:127
1	159174885	.	T	C	11347.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=484;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=[Blood_group|_Duffy_system]|_110700_(3)|_{Malaria|_vivax|_protection_against}|_611162_(3)|_[White_blood_cell_count_QTL]|_611862_(3);dbSNP139.ID=rs7550207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7550207" target="_blank">rs7550207</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DARC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARC" target="_blank">DARC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CTA-134P22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARC" target="_blank">DARC</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARC" target="_blank">DARC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DARC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159174885">View</a>	GT:AD:DP:GQ:PL:TP	0|1:81,60:141:99:1574,0,2279:127	1|0:93,109:202:99:2960,0,2496:127	0|0:141,0:141:99:0,423,5062:127
1	159174920	.	C	T	2428.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_group|_Duffy_system]|_110700_(3)|_{Malaria|_vivax|_protection_against}|_611162_(3)|_[White_blood_cell_count_QTL]|_611862_(3);dbSNP139.ID=rs863002;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=863002" target="_blank">rs863002</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DARC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARC" target="_blank">DARC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CTA-134P22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARC" target="_blank">DARC</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARC" target="_blank">DARC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DARC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159174920">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,265,3488:127	0|0:122,0:122:99:0,367,4792:127	0|1:54,42:96:99:1233,0,1727:127
1	159175354	.	G	A	13890.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=[Blood_group|_Duffy_system]|_110700_(3)|_{Malaria|_vivax|_protection_against}|_611162_(3)|_[White_blood_cell_count_QTL]|_611862_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12075;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12075" target="_blank">rs12075</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Duffy_blood_group_antigen|_absence;hgmd_2014.2.OMIM_ID=613665;hgmd_2014.2.PubMed=7705836;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=7705836" target="_blank">7705836</a>;ExAC.Info.AC=66125;ExAC.Info.AN=126704;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=26788;ExAC.Info.AC_Hom=19657;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000000005;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CTA-134P22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTA-134P222" target="_blank">CTA-134P222</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGt/gAt;snpeff.Amino_Acid_Change=p.Gly44Asp/c.131G>A;snpeff.Amino_Acid_length=338;snpeff.Gene_Name=DARC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTA-134P222" target="_blank">CTA-134P222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368121;SAVANT_GENE=DARC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARC" target="_blank">DARC</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.131G>A_p.Gly44Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DARC+c.131G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159175354">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000005" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:73,73:146:99:1808,0,2253:127	0/1:84,89:173:99:2514,0,2595:127	0/1:62,49:111:99:1356,0,2055:127
1	159249451	.	T	TA	1677.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs57414108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57414108" target="_blank">rs57414108</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.340_341insT;snpeff.Gene_Name=OR10J2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J2P" target="_blank">OR10J2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000514684;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J2P" target="_blank">OR10J2P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10J2P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159249451">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,1:82:99:0,217,2310:127	0|1:62,40:102:99:862,0,1487:127	0|0:90,0:90:99:0,271,2610:127
1	159272060	.	T	C	4601.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=474;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2251746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2251746" target="_blank">rs2251746</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Atopic_dermatitis|_association_with;hgmd_2014.2.OMIM_ID=147140;hgmd_2014.2.PubMed=12902495;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12902495" target="_blank">12902495</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-59-36T>C;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=FCER1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1A" target="_blank">FCER1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368115;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368115;SAVANT_GENE=FCER1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1A" target="_blank">FCER1A</a>;SAVANT_INFO=+/18.5kb/6/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-95T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCER1A+c.-95T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159272060">View</a>	GT:AD:DP:GQ:PL:TP	0|0:140,0:140:99:0,420,4442:127	0|0:179,0:179:99:0,537,5949:127	0|1:80,75:155:99:2320,0,2267:127
1	159272764	.	C	T	2804.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12119226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12119226" target="_blank">rs12119226</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.76+100C>T;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=FCER1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1A" target="_blank">FCER1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77C>T;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=FCER1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1A" target="_blank">FCER1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77C>T;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=FCER1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1A" target="_blank">FCER1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368115;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77C>T;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=FCER1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1A" target="_blank">FCER1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368115;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77C>T;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=FCER1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1A" target="_blank">FCER1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368115;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368115;SAVANT_GENE=FCER1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1A" target="_blank">FCER1A</a>;SAVANT_INFO=+/18.5kb/6/1.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.76+100C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCER1A+c.76+100C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159272764">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,274,3472:127	0|1:76,55:131:99:1421,0,2331:127	0|0:88,0:88:99:0,265,3256:127
1	159283746	.	T	C	1848.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11265165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11265165" target="_blank">rs11265165</a>;ExAC.Info.AC=16661;ExAC.Info.AN=126704;ExAC.Info.AF=0.131;ExAC.Info.AC_Het=13196;ExAC.Info.AC_Hom=1730;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.704T>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=OR10J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J3" target="_blank">OR10J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332217;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln235Arg/c.704A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=OR10J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J3" target="_blank">OR10J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332217;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332217;SAVANT_GENE=OR10J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J3" target="_blank">OR10J3</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.704A>G_p.Gln235Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10J3+c.704A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159283746">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2736:127	0|1:39,34:73:99:943,0,1245:127	0|0:64,0:64:99:0,191,2248:127
1	159320979	.	G	A	17146.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=859;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10908710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10908710" target="_blank">rs10908710</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.97G>A;snpeff.Gene_Name=OR10J7P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J7P" target="_blank">OR10J7P</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000503933;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.540-4500C>T;snpeff.Gene_Name=RP11-550P17.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J7P" target="_blank">OR10J7P</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431862;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J7P" target="_blank">OR10J7P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10J7P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159320979">View</a>	GT:AD:DP:GQ:PL:TP	0|0:284,0:284:99:0,853,9580:127	0|1:138,170:308:99:4840,0,3931:127	0|1:131,136:267:99:3753,0,3751:127
1	159409196	.	T	C	27564.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6691297;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6691297" target="_blank">rs6691297</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.227+29436A>G;snpeff.Gene_Name=RP11-550P17.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-550P175" target="_blank">RP11-550P175</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431862;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-550P175" target="_blank">RP11-550P175</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-550P175+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159409196">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2888,244,0:127	1|1:0,150:150:99:5091,451,0:127	1|1:0,118:118:99:4001,354,0:127
1	159409734	.	G	T	67235.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=876;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10908722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10908722" target="_blank">rs10908722</a>;ExAC.Info.AC=126316;ExAC.Info.AN=126704;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=380;ExAC.Info.AC_Hom=62954;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.227+28898C>A;snpeff.Gene_Name=RP11-550P17.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-550P175" target="_blank">RP11-550P175</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431862;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.186G>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR10J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-550P175" target="_blank">RP11-550P175</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423932;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atT;snpeff.Amino_Acid_Change=p.Met62Ile/c.186G>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR10J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-550P175" target="_blank">RP11-550P175</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423932;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423932;SAVANT_GENE=OR10J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J1" target="_blank">OR10J1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.186G>T_p.Met62Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10J1+c.186G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159409734">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,278:278:99:9458,835,0:127	1|1:0,315:315:99:10984,946,0:127	1|1:0,283:283:99:9907,850,0:127
1	159409857	.	A	G	23316.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=506;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12048482;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12048482" target="_blank">rs12048482</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=71181;ExAC.Info.AN=126694;ExAC.Info.AF=0.562;ExAC.Info.AC_Het=29050;ExAC.Info.AC_Hom=21046;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.227+28775T>C;snpeff.Gene_Name=RP11-550P17.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-550P175" target="_blank">RP11-550P175</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431862;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.309A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR10J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-550P175" target="_blank">RP11-550P175</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423932;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atA/atG;snpeff.Amino_Acid_Change=p.Ile103Met/c.309A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR10J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-550P175" target="_blank">RP11-550P175</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423932;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423932;SAVANT_GENE=OR10J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J1" target="_blank">OR10J1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.309A>G_p.Ile103Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10J1+c.309A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159409857">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,81:160:99:2362,0,2372:127	0|1:106,93:199:99:2786,0,3127:127	1|1:0,147:147:99:5606,442,0:127
1	159410340	.	T	A	7056.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs12409540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12409540" target="_blank">rs12409540</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=23300193;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23300193" target="_blank">23300193</a>;ExAC.Info.AC=15665;ExAC.Info.AN=126704;ExAC.Info.AF=0.124;ExAC.Info.AC_Het=13468;ExAC.Info.AC_Hom=1098;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.227+28292A>T;snpeff.Gene_Name=RP11-550P17.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-550P175" target="_blank">RP11-550P175</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431862;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.792T>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR10J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-550P175" target="_blank">RP11-550P175</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423932;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=tgT/tgA;snpeff.Amino_Acid_Change=p.Cys264*/c.792T>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR10J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-550P175" target="_blank">RP11-550P175</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423932;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423932;SAVANT_GENE=OR10J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J1" target="_blank">OR10J1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.792T>A_p.Cys264X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10J1+c.792T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159410340">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,46:90:99:1294,0,1270:127	1|0:62,45:107:99:1216,0,1862:127	0|0:105,0:105:99:0,316,3630:127
1	159505101	.	G	A	8788.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35393723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35393723" target="_blank">rs35393723</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_receptor_function;hgmd_2014.2.PubMed=24316890;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24316890" target="_blank">24316890</a>;ExAC.Info.AC=20563;ExAC.Info.AN=126698;ExAC.Info.AF=0.162;ExAC.Info.AC_Het=16594;ExAC.Info.AC_Hom=1979;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR10J5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J5" target="_blank">OR10J5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334857;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg233Trp/c.697C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR10J5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J5" target="_blank">OR10J5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334857;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334857;SAVANT_GENE=OR10J5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J5" target="_blank">OR10J5</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.697C>T_p.Arg233Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10J5+c.697C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159505101">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,55:117:99:1630,0,1782:127	1|0:77,75:152:99:2329,0,2087:127	0|0:117,0:117:99:0,352,3979:127
1	159505297	.	C	T	24697.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=536;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4656837;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4656837" target="_blank">rs4656837</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=81887;ExAC.Info.AN=126704;ExAC.Info.AF=0.646;ExAC.Info.AC_Het=27409;ExAC.Info.AC_Hom=27214;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.501C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR10J5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J5" target="_blank">OR10J5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334857;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.501C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR10J5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J5" target="_blank">OR10J5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334857;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro167Pro/c.501G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR10J5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J5" target="_blank">OR10J5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334857;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334857;SAVANT_GENE=OR10J5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10J5" target="_blank">OR10J5</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.501G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10J5+c.501G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159505297">View</a>	GT:AD:DP:GQ:PL:TP	1|0:84,86:170:99:2452,0,2255:127	0|1:93,97:190:99:2860,0,2775:127	1|1:0,176:176:99:5968,528,0:127
1	159558258	.	A	G	5052.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2808661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2808661" target="_blank">rs2808661</a>;ExAC.Info.AC=107375;ExAC.Info.AN=126696;ExAC.Info.AF=0.848;ExAC.Info.AC_Het=15705;ExAC.Info.AC_Hom=45789;snpeff.Effect=sequence_feature[domain:Pentaxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=223;snpeff.Gene_Name=APCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APCS" target="_blank">APCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255040;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Pentaxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=223;snpeff.Gene_Name=APCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APCS" target="_blank">APCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255040;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val144Val/c.432A>G;snpeff.Amino_Acid_length=223;snpeff.Gene_Name=APCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APCS" target="_blank">APCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255040;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000255040;SAVANT_GENE=APCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APCS" target="_blank">APCS</a>;SAVANT_INFO=+/1.0kb/2/0.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.432A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APCS+c.432A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159558258">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,273,3181:127	0|1:58,54:112:99:1576,0,1794:127	0|1:59,35:94:99:970,0,1794:127
1	159684121	.	CT	C	429.31	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=26;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs58518386;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58518386" target="_blank">rs58518386</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.61+93delA;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRP" target="_blank">CRP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Pentaxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delT;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRP" target="_blank">CRP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Pentaxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62delT;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRP" target="_blank">CRP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255030;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000255030;SAVANT_GENE=CRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRP" target="_blank">CRP</a>;SAVANT_INFO=-/2.3kb/2/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.61+93delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRP+c.61+93delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159684121">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,4:11:37:37,0,137:25	0/1:4,3:7:53:53,0,76:25	0/1:2,6:8:26:122,0,26:25
1	159684186	.	T	A	2052.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1417938;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1417938" target="_blank">rs1417938</a>;ExAC.Info.AC=34508;ExAC.Info.AN=126700;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=23941;ExAC.Info.AC_Hom=5109;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.61+29A>T;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRP" target="_blank">CRP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Pentaxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>A;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRP" target="_blank">CRP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Pentaxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62T>A;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=CRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRP" target="_blank">CRP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255030;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000255030;SAVANT_GENE=CRP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRP" target="_blank">CRP</a>;SAVANT_INFO=-/2.3kb/2/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.61+29A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRP+c.61+29A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159684186">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1430:116	0|1:33,33:66:99:1045,0,973:116	0|0:40,0:40:99:0,120,1490:116
1	159684665	.	G	A	11778.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3091244;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3091244" target="_blank">rs3091244</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_CRP_level;hgmd_2014.2.OMIM_ID=123260;hgmd_2014.2.PubMed=15897982;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15897982" target="_blank">15897982</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15897982" target="_blank">15897982</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159684665">View</a>	GT:AD:DP:GQ:PL:TP	0|0:395,0:395:99:0,1186,12670:127	0|1:236,221:457:99:5908,0,6594:127	0|0:389,0:389:99:0,1168,12794:127
1	159776366	.	G	A	6071.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61821626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61821626" target="_blank">rs61821626</a>;ExAC.Info.AC=12444;ExAC.Info.AN=126704;ExAC.Info.AF=0.098;ExAC.Info.AC_Het=10927;ExAC.Info.AC_Hom=757;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.32-20G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368106;SAVANT_GENE=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;SAVANT_INFO=+/13.2kb/10/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.32-20G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL6+c.32-20G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159776366">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,45:89:99:1064,0,1284:127	0|0:138,0:138:99:0,414,4827:127	1|0:54,48:102:99:1196,0,1692:127
1	159778983	.	T	C	1191.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=43;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12083967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12083967" target="_blank">rs12083967</a>;ExAC.Info.AC=26320;ExAC.Info.AN=126644;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=19488;ExAC.Info.AC_Hom=3283;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.552T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.552T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.552T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.552T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.552T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro184Pro/c.552T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368106;SAVANT_GENE=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;SAVANT_INFO=+/13.2kb/10/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.552T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL6+c.552T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159778983">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,4:14:99:108,0,356:48	0|0:16,0:16:48:0,48,589:48	1|0:8,5:13:99:126,0,253:48
1	159784141	.	G	A	6325.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61821659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61821659" target="_blank">rs61821659</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1147+59G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148G>A;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368106;SAVANT_GENE=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;SAVANT_INFO=+/13.2kb/10/1.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1147+59G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL6+c.1147+59G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159784141">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,31:68:99:1129,0,2048:127	0|0:100,0:100:99:0,307,6088:127	1|0:40,30:70:99:1077,0,2125:127
1	159784160	.	T	C	5401.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61823160;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61823160" target="_blank">rs61823160</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1147+78T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368106;SAVANT_GENE=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;SAVANT_INFO=+/13.2kb/10/1.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1147+78T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL6+c.1147+78T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159784160">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,27:60:99:1098,0,1879:127	0|0:87,0:87:99:0,268,5486:127	1|0:33,23:56:99:932,0,1883:127
1	159785284	.	C	G	6669.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4411129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4411129" target="_blank">rs4411129</a>;ExAC.Info.AC=93928;ExAC.Info.AN=126702;ExAC.Info.AF=0.741;ExAC.Info.AC_Het=23386;ExAC.Info.AC_Hom=35239;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1179+35C>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368106;SAVANT_GENE=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;SAVANT_INFO=+/13.2kb/10/1.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1179+35C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL6+c.1179+35C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159785284">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,44:82:99:1350,0,1103:127	0|0:114,0:114:99:0,343,3993:127	1|0:32,41:73:99:1327,0,960:127
1	159785413	.	C	T	6327.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs61823162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61823162" target="_blank">rs61823162</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.OMIM_ID=613562;hgmd_2014.2.PubMed=23300193;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23300193" target="_blank">23300193</a>;ExAC.Info.AC=12523;ExAC.Info.AN=126704;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=10954;ExAC.Info.AC_Hom=784;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267C>T;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267C>T;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267C>T;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267C>T;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1267C>T;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Caa/Taa;snpeff.Amino_Acid_Change=p.Gln423*/c.1267C>T;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368106;SAVANT_GENE=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;SAVANT_INFO=+/13.2kb/10/1.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1267C>T_p.Gln423X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL6+c.1267C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159785413">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,28:62:99:1034,0,1509:127	0|0:67,2:69:99:0,127,3305:127	1|0:26,45:71:99:1737,0,1209:127
1	159785425	.	A	G	5861.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4443889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4443889" target="_blank">rs4443889</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=26161;ExAC.Info.AN=126704;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=19880;ExAC.Info.AC_Hom=3133;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1279A>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1279A>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1279A>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1279A>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1279A>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser427Gly/c.1279A>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368106;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368106;SAVANT_GENE=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;SAVANT_INFO=+/13.2kb/10/1.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1279A>G_p.Ser427Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL6+c.1279A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159785425">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,27:59:99:1029,0,1461:99	0|0:60,2:62:99:0,100,2958:99	1|0:24,39:63:99:1599,0,1105:99
1	159785477	.	G	A	1669.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61823163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61823163" target="_blank">rs61823163</a>;ExAC.Info.AC=12633;ExAC.Info.AN=126700;ExAC.Info.AF=0.100;ExAC.Info.AC_Het=11045;ExAC.Info.AC_Hom=775;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCRL6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRL6" target="_blank">FCRL6</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRL6+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159785477">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,11:26:99:245,0,434:96	0|0:32,0:32:96:0,96,1261:96	1|0:13,21:34:99:599,0,390:96
1	159799599	.	C	CA	10307.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11422063;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11422063" target="_blank">rs11422063</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.41-56_41-55insA;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=SLAMF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF8" target="_blank">SLAMF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289707;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.41_42insA;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=SLAMF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF8" target="_blank">SLAMF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289707;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.41_42insA;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=SLAMF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF8" target="_blank">SLAMF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289707;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000289707;SAVANT_GENE=SLAMF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF8" target="_blank">SLAMF8</a>;SAVANT_INFO=+/10.5kb/5/3.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.41-54dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLAMF8+c.41-54dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159799599">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1613,144,0:110	1|1:0,41:41:99:1410,126,0:110	1|1:0,35:35:99:1246,111,0:110
1	159799910	.	G	A	5748.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34687326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34687326" target="_blank">rs34687326</a>;ExAC.Info.AC=10162;ExAC.Info.AN=126704;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=8999;ExAC.Info.AC_Hom=575;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=SLAMF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF8" target="_blank">SLAMF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289707;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=SLAMF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF8" target="_blank">SLAMF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289707;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=SLAMF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF8" target="_blank">SLAMF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289707;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly99Ser/c.295G>A;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=SLAMF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF8" target="_blank">SLAMF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000289707;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289707;SAVANT_GENE=SLAMF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF8" target="_blank">SLAMF8</a>;SAVANT_INFO=+/10.5kb/5/3.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.295G>A_p.Gly99Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLAMF8+c.295G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159799910">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2581:127	0|1:48,49:97:99:1478,0,1358:127	0|1:55,47:102:99:1416,0,1571:127
1	159824967	.	G	C	11312.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2501340;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2501340" target="_blank">rs2501340</a>;ExAC.Info.AC=35305;ExAC.Info.AN=41114;ExAC.Info.AF=0.859;ExAC.Info.AC_Het=2103;ExAC.Info.AC_Hom=9517;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.972-151C>G;snpeff.Amino_Acid_length=414;snpeff.Gene_Name=VSIG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368100;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972G>C;snpeff.Amino_Acid_length=414;snpeff.Gene_Name=VSIG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368100;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972G>C;snpeff.Amino_Acid_length=414;snpeff.Gene_Name=VSIG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368100;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.61C>G;snpeff.Amino_Acid_length=235;snpeff.Gene_Name=C1orf204;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Caa/Gaa;snpeff.Amino_Acid_Change=p.Gln21Glu/c.61C>G;snpeff.Amino_Acid_length=235;snpeff.Gene_Name=C1orf204;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368100:ENST00000368102;SAVANT_GENE=VSIG8:C1orf204;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8:C1orf204" target="_blank">VSIG8:C1orf204</a>;SAVANT_INFO=-/8.3kb/7/1.8kb:-/20.9kb/6/2.5kb;SAVANT_LOC=In6/7:Ex1;SAVANT_HGVS=c.972-151C>G:c.61C>G_p.Gln21Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSCSS;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VSIG8:C1orf204+c.972-151C>G:c.61C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159824967">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1122,87,0:125	1|1:0,42:42:99:1530,126,0:125	1|1:0,45:45:99:1603,135,0:125
1	159825004	.	C	G	4183.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72700643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72700643" target="_blank">rs72700643</a>;ExAC.Info.AC=104;ExAC.Info.AN=40180;ExAC.Info.AF=2.588e-03;ExAC.Info.AC_Het=93;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.972-188G>C;snpeff.Amino_Acid_length=414;snpeff.Gene_Name=VSIG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368100;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972C>G;snpeff.Amino_Acid_length=414;snpeff.Gene_Name=VSIG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368100;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972C>G;snpeff.Amino_Acid_length=414;snpeff.Gene_Name=VSIG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368100;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro8Pro/c.24G>C;snpeff.Amino_Acid_length=235;snpeff.Gene_Name=C1orf204;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368100:ENST00000368102;SAVANT_GENE=VSIG8:C1orf204;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8:C1orf204" target="_blank">VSIG8:C1orf204</a>;SAVANT_INFO=-/8.3kb/7/1.8kb:-/20.9kb/6/2.5kb;SAVANT_LOC=In6/7:Ex1;SAVANT_HGVS=c.972-188G>C:c.24G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VSIG8:C1orf204+c.972-188G>C:c.24G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159825004">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,18:36:99:510,0,488:127	0|0:55,0:55:99:0,165,1830:127	1|0:22,30:52:99:850,0,575:127
1	159825061	.	G	C	12499.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2501339;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2501339" target="_blank">rs2501339</a>;ExAC.Info.AC=14625;ExAC.Info.AN=32804;ExAC.Info.AF=0.446;ExAC.Info.AC_Het=5432;ExAC.Info.AC_Hom=3452;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.972-245C>G;snpeff.Amino_Acid_length=414;snpeff.Gene_Name=VSIG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368100;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=34;snpeff.Amino_Acid_Change=c.-34C>G;snpeff.Amino_Acid_length=235;snpeff.Gene_Name=C1orf204;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972G>C;snpeff.Amino_Acid_length=414;snpeff.Gene_Name=VSIG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368100;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972G>C;snpeff.Amino_Acid_length=414;snpeff.Gene_Name=VSIG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368100;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=235;snpeff.Gene_Name=C1orf204;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8" target="_blank">VSIG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368100:ENST00000368102;SAVANT_GENE=VSIG8:C1orf204;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSIG8:C1orf204" target="_blank">VSIG8:C1orf204</a>;SAVANT_INFO=-/8.3kb/7/1.8kb:-/20.9kb/6/2.5kb;SAVANT_LOC=In6/7:5UTR;SAVANT_HGVS=c.972-245C>G:c.-34C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VSIG8:C1orf204+c.972-245C>G:c.-34C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159825061">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1298,114,0:119	1|1:0,48:48:99:1775,144,0:119	1|1:0,40:40:99:1506,120,0:119
1	159850401	.	C	G	2172.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7550537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7550537" target="_blank">rs7550537</a>;ExAC.Info.AC=14616;ExAC.Info.AN=126704;ExAC.Info.AF=0.115;ExAC.Info.AC_Het=12758;ExAC.Info.AC_Hom=928;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987C>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987C>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987C>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987C>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987C>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987C>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987C>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987C>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu329Leu/c.987G>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368099;SAVANT_GENE=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;SAVANT_INFO=-/27.8kb/12/1.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.987G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC19+c.987G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159850401">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,237,2790:127	0|0:79,0:79:99:0,237,2809:127	0|1:26,38:64:99:1105,0,691:127
1	159854251	.	T	C	5714.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16842789;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16842789" target="_blank">rs16842789</a>;ExAC.Info.AC=9706;ExAC.Info.AN=126704;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=8818;ExAC.Info.AC_Hom=442;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.872T>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.872T>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.872T>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.872T>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.872T>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.872T>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.872T>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.872T>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu291Gly/c.872A>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368099;SAVANT_GENE=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;SAVANT_INFO=-/27.8kb/12/1.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.872A>G_p.Glu291Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC19+c.872A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159854251">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,33:61:99:945,0,694:127	0|0:98,1:99:99:0,257,3249:127	1|0:32,33:65:99:1044,0,895:127
1	159858290	.	T	A	2660.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3795334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795334" target="_blank">rs3795334</a>;ExAC.Info.AC=11814;ExAC.Info.AN=126448;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=10516;ExAC.Info.AC_Hom=806;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.273-4A>T;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.273A>T;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368099;SAVANT_GENE=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;SAVANT_INFO=-/27.8kb/12/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.273-4A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC19+c.273-4A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159858290">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,15:35:99:406,0,545:127	0|0:45,0:45:99:0,135,1566:127	1|0:26,26:52:99:718,0,780:127
1	159860259	.	G	A	2871.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2501320;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2501320" target="_blank">rs2501320</a>;ExAC.Info.AC=34599;ExAC.Info.AN=126702;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=23701;ExAC.Info.AC_Hom=5440;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.272+11C>T;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368099;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368099;SAVANT_GENE=CCDC19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC19" target="_blank">CCDC19</a>;SAVANT_INFO=-/27.8kb/12/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.272+11C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC19+c.272+11C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159860259">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,15:30:99:451,0,389:90	1|0:15,22:37:99:749,0,419:90	0|0:30,0:30:90:0,90,1092:90
1	159889686	.	G	A	5138.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2252815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2252815" target="_blank">rs2252815</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.244-61C>T;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=TAGLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAGLN2" target="_blank">TAGLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368096;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368097;SAVANT_GENE=TAGLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAGLN2" target="_blank">TAGLN2</a>;SAVANT_INFO=-/7.6kb/5/1.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.181-61C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAGLN2+c.181-61C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159889686">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,30:55:99:829,0,685:127	0/1:28,37:65:99:900,0,789:127	0/1:24,22:46:99:629,0,715:127
1	159897388	.	C	T	5407.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1934074;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1934074" target="_blank">rs1934074</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3359-72G>A;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3359C>T;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3359C>T;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3359C>T;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3359C>T;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3359C>T;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368094;SAVANT_GENE=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;SAVANT_INFO=-/18.6kb/21/4.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.3359-72G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF9+c.3359-72G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159897388">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,21:34:99:630,0,355:127	0/1:35,31:66:99:890,0,905:127	0/1:23,26:49:99:789,0,669:127
1	159897681	.	TAA	T	9859.89	PASS	InheritancePattern=Normal;AC=4;AF=1.00;AN=4;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=1/1;dbSNP139.ID=rs142211405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142211405" target="_blank">rs142211405</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3231-6_3231-5delTT;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231_3232delAA;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231_3232delAA;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231_3232delAA;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231_3232delAA;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231_3232delAA;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231_3232delTT;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368094;SAVANT_GENE=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;SAVANT_INFO=-/18.6kb/21/4.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.3231-6_3231-5delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF9+c.3231-6_3231-5delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159897681">View</a>	GT:AD:DP:GQ:PL	./1:1,15:31:99:804,326,353	1/1:0,56:57:99:1934,169,0	./1:0,37:48:99:1383,248,155
1	159897681	.	TAA	TA	9859.89	PASS	InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./.;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3231-6delT;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231delA;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231delA;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231delA;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231delA;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231delA;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3231delT;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368094;SAVANT_GENE=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;SAVANT_INFO=-/18.6kb/21/4.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.3231-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF9+c.3231-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159897681">View</a>	GT:AD:DP:GQ:PL	./1:1,15:31:99:804,362,290	./.:0,1:57:99:1934,1519,1376	./1:0,11:48:99:1383,894,775
1	159898100	.	A	G	8268.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3747615;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747615" target="_blank">rs3747615</a>;ExAC.Info.AC=58383;ExAC.Info.AN=125968;ExAC.Info.AF=0.463;ExAC.Info.AC_Het=28201;ExAC.Info.AC_Hom=12987;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3078A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3078A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3078A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3078A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3078A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser1026Ser/c.3078T>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368094;SAVANT_GENE=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;SAVANT_INFO=-/18.6kb/21/4.0kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.3078T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF9+c.3078T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159898100">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,22:50:99:634,0,838:127	1|1:0,56:56:99:2198,168,0:127	0|1:18,27:45:99:900,0,505:127
1	159902520	.	G	C	872.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs75376900;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75376900" target="_blank">rs75376900</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1105-78C>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368094;SAVANT_GENE=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;SAVANT_INFO=-/18.6kb/21/4.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1105-78C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF9+c.1105-78C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159902520">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1435:89	0|1:21,16:37:99:455,0,666:89	0|0:39,0:39:99:0,117,1909:89
1	159904539	.	A	G	3600.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35702833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35702833" target="_blank">rs35702833</a>;ExAC.Info.AC=9241;ExAC.Info.AN=126704;ExAC.Info.AF=0.073;ExAC.Info.AC_Het=7487;ExAC.Info.AC_Hom=876;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.747A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His249His/c.747T>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368094;SAVANT_GENE=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;SAVANT_INFO=-/18.6kb/21/4.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.747T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF9+c.747T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159904539">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,270,2979:127	0|1:46,62:108:99:1819,0,1192:127	0|0:109,0:109:99:0,328,3790:127
1	159906156	.	A	G	7979.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10908750;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10908750" target="_blank">rs10908750</a>;ExAC.Info.AC=45777;ExAC.Info.AN=126632;ExAC.Info.AF=0.361;ExAC.Info.AC_Het=28230;ExAC.Info.AC_Hom=8503;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.673+33T>C;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368094;SAVANT_GENE=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;SAVANT_INFO=-/18.6kb/21/4.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.673+33T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF9+c.673+33T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159906156">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,18:49:99:476,0,899:127	1|1:0,59:59:99:2120,176,0:127	0|1:34,25:59:99:731,0,988:127
1	159913053	.	C	T	1456.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41264841;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264841" target="_blank">rs41264841</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.59-112G>A;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.59C>T;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.59C>T;snpeff.Amino_Acid_length=1179;snpeff.Gene_Name=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368094;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368094;SAVANT_GENE=IGSF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF9" target="_blank">IGSF9</a>;SAVANT_INFO=-/18.6kb/21/4.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.59-112G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF9+c.59-112G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159913053">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1607:127	0|0:58,0:58:99:0,174,1979:127	0|1:31,28:59:99:747,0,915:127
1	159922369	.	C	T	10173.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2840583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2840583" target="_blank">rs2840583</a>;ExAC.Info.AC=114172;ExAC.Info.AN=126578;ExAC.Info.AF=0.902;ExAC.Info.AC_Het=10217;ExAC.Info.AC_Hom=50403;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.392-45G>A;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=SLAMF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF9" target="_blank">SLAMF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368093;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392C>T;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=SLAMF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF9" target="_blank">SLAMF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368093;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392C>T;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=SLAMF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF9" target="_blank">SLAMF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368093;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392C>T;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=SLAMF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF9" target="_blank">SLAMF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368093;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368093;SAVANT_GENE=SLAMF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF9" target="_blank">SLAMF9</a>;SAVANT_INFO=-/2.8kb/4/1.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.392-45G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLAMF9+c.392-45G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159922369">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1262,105,0:127	1|1:0,47:47:99:1779,141,0:127	1|1:0,43:43:99:1608,129,0:127
1	159923111	.	T	G	10821.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2789417;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2789417" target="_blank">rs2789417</a>;ExAC.Info.AC=114356;ExAC.Info.AN=126686;ExAC.Info.AF=0.903;ExAC.Info.AC_Het=10519;ExAC.Info.AC_Hom=51800;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379T>G;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=SLAMF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF9" target="_blank">SLAMF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368093;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379T>G;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=SLAMF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF9" target="_blank">SLAMF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368093;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379T>G;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=SLAMF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF9" target="_blank">SLAMF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368093;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Cta;snpeff.Amino_Acid_Change=p.Ile127Leu/c.379A>C;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=SLAMF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF9" target="_blank">SLAMF9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368093;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368093;SAVANT_GENE=SLAMF9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF9" target="_blank">SLAMF9</a>;SAVANT_INFO=-/2.8kb/4/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.379A>C_p.Ile127Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLAMF9+c.379A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:159923111">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1514,123,0:80	1|1:0,46:46:99:1610,138,0:80	1|1:0,27:27:81:1017,81,0:80
1	160000435	.	A	T	17303.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=611;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Glycosylphosphatidylinositol_deficiency|_610293_(3);dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12409352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12409352" target="_blank">rs12409352</a>;ExAC.Info.AC=17787;ExAC.Info.AN=126702;ExAC.Info.AF=0.140;ExAC.Info.AC_Het=14640;ExAC.Info.AC_Hom=1569;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095A>T;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=PIGM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGM" target="_blank">PIGM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368090;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttT/ttA;snpeff.Amino_Acid_Change=p.Phe365Leu/c.1095T>A;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=PIGM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGM" target="_blank">PIGM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368090;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368090;SAVANT_GENE=PIGM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGM" target="_blank">PIGM</a>;SAVANT_INFO=-/4.3kb/1/4.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1095T>A_p.Phe365Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIGM+c.1095T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160000435">View</a>	GT:AD:DP:GQ:PL:TP	0/1:104,78:182:99:2009,0,2807:127	0/1:114,103:217:99:2815,0,3165:127	0/1:123,89:212:99:2471,0,3473:127
1	160012316	.	A	G	11659.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1066;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=SESAME_syndrome|_612780_(3)|_Enlarged_vestibular_aqueduct|_digenic|_600791_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72704720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72704720" target="_blank">rs72704720</a>;ExAC.Info.AC=1;ExAC.Info.AN=126704;ExAC.Info.AF=7.892e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7A>G;snpeff.Amino_Acid_length=379;snpeff.Gene_Name=KCNJ10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ10" target="_blank">KCNJ10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368089;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Cca;snpeff.Amino_Acid_Change=p.Ser3Pro/c.7T>C;snpeff.Amino_Acid_length=379;snpeff.Gene_Name=KCNJ10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ10" target="_blank">KCNJ10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368089;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368089;SAVANT_GENE=KCNJ10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ10" target="_blank">KCNJ10</a>;SAVANT_INFO=-/32.8kb/2/5.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.7T>C_p.Ser3Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNJ10+c.7T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160012316">View</a>	GT:AD:DP:GQ:PL:TP	0|0:305,0:305:99:0,916,9976:127	0|1:193,193:386:99:5814,0,5269:127	0|0:375,0:375:99:0,1126,12597:127
1	160062340	.	G	A	2338.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41265757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41265757" target="_blank">rs41265757</a>;ExAC.Info.AC=16248;ExAC.Info.AN=126468;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=13238;ExAC.Info.AC_Hom=1208;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458G>A;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458G>A;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458G>A;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458G>A;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458G>A;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458G>A;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458G>A;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1458G>A;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp486Asp/c.1458C>T;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368086;SAVANT_GENE=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;SAVANT_INFO=-/7.4kb/7/2.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1458C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF8+c.1458C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160062340">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,7:18:99:190,0,322:69	1|0:11,17:28:99:574,0,284:69	0|0:23,0:23:69:0,69,827:69
1	160062472	.	C	T	9666.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2295622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295622" target="_blank">rs2295622</a>;ExAC.Info.AC=25579;ExAC.Info.AN=125830;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=19004;ExAC.Info.AC_Hom=2848;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1326C>T;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1326C>T;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1326C>T;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1326C>T;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1326C>T;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1326C>T;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1326C>T;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu442Glu/c.1326G>A;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368086;SAVANT_GENE=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;SAVANT_INFO=-/7.4kb/7/2.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1326G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF8+c.1326G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160062472">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1787,168,0:127	1|0:20,29:49:99:927,0,543:127	1|0:25,24:49:99:656,0,684:127
1	160062727	.	A	G	11847.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2295621;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295621" target="_blank">rs2295621</a>;ExAC.Info.AC=26378;ExAC.Info.AN=126682;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=20003;ExAC.Info.AC_Hom=3089;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299A>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299A>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299A>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299A>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299A>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299A>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299A>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His433His/c.1299T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368086;SAVANT_GENE=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;SAVANT_INFO=-/7.4kb/7/2.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1299T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF8+c.1299T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160062727">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2265,213,0:127	1|0:45,46:91:99:1245,0,1275:127	1|0:34,25:59:99:738,0,989:127
1	160064418	.	T	C	39902.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=767;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2369406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2369406" target="_blank">rs2369406</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.442+241A>G;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368086;SAVANT_GENE=IGSF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF8" target="_blank">IGSF8</a>;SAVANT_INFO=-/7.4kb/7/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.442+241A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF8+c.442+241A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160064418">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,234:234:99:7995,703,0:127	1|0:164,172:336:99:4902,0,4428:127	1|0:88,109:197:99:3286,0,2482:127
1	160090674	.	T	C	9802.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=119;MQ=70.12;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs2854246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2854246" target="_blank">rs2854246</a>;ExAC.Info.AC=118445;ExAC.Info.AN=119000;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=21757;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13-22T>C;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13T>C;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13T>C;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.13-22T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.13-22T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160090674">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1889,147,0:83	1|1:0,42:42:99:1584,126,0:83	1|1:0,28:28:84:1095,84,0:83
1	160090681	.	CCCTT	C	11560.71	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=143;MQ=70.10;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs67915591;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67915591" target="_blank">rs67915591</a>;ExAC.Info.AC=91857;ExAC.Info.AN=121002;ExAC.Info.AF=0.759;ExAC.Info.AC_Het=8947;ExAC.Info.AC_Hom=16473;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13-14_13-11delCCTT;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13_16delCCTT;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13_16delCCTT;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.13-11_13-8delTCCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.13-11_13-8delTCCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160090681">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2461,169,0:127	1|1:0,48:48:99:2091,145,0:127	1|0:22,17:39:99:627,0,860:127
1	160093222	.	C	T	16296.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs2820581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2820581" target="_blank">rs2820581</a>;ExAC.Info.AC=124827;ExAC.Info.AN=126704;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1631;ExAC.Info.AC_Hom=61585;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.381+16C>T;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382C>T;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382C>T;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.381+16C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.381+16C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160093222">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2281,195,0:127	1|1:0,74:74:99:2550,222,0:127	1|1:0,60:60:99:2080,180,0:127
1	160093648	.	G	A	2989.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs41265763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41265763" target="_blank">rs41265763</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.382-85G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.382-85G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.382-85G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160093648">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,25:49:99:702,0,823:127	0|0:60,0:60:99:0,180,2352:127	1|0:22,18:40:99:508,0,718:127
1	160093911	.	T	C	44418.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=536;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs2820582;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2820582" target="_blank">rs2820582</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.495+65T>C;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>C;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.495+65T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.495+65T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160093911">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,173:173:99:6291,520,0:127	1|1:0,194:194:99:6808,582,0:127	1|1:0,169:169:99:6197,508,0:127
1	160093927	.	T	A	13226.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs2854248;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2854248" target="_blank">rs2854248</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.495+81T>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496T>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.495+81T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.495+81T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160093927">View</a>	GT:AD:DP:GQ:PL:TP	0/1:79,63:142:99:1603,0,2163:127	0/1:80,80:160:99:2203,0,2295:127	0/1:71,61:132:99:1846,0,2113:127
1	160093942	.	G	A	2925.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs17846707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17846707" target="_blank">rs17846707</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.495+96G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.495+96G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.495+96G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160093942">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,0:111:99:0,334,4301:127	0|0:125,0:125:99:0,376,4716:127	0|1:52,52:104:99:1482,0,1773:127
1	160095127	.	T	A	3630.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs7548116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7548116" target="_blank">rs7548116</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.748+84T>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.749T>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.749T>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.749T>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.749T>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.748+84T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.748+84T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160095127">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,14:32:99:467,0,617:127	0/1:14,22:36:99:713,0,454:127	0/1:8,11:19:99:353,0,273:127
1	160097315	.	C	A	6621.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs2295623;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295623" target="_blank">rs2295623</a>;ExAC.Info.AC=11782;ExAC.Info.AN=126702;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=10520;ExAC.Info.AC_Hom=610;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.749-27C>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.749C>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.749C>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.749C>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.749C>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.749-27C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.749-27C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160097315">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,37:68:99:1109,0,975:127	0|0:120,0:120:99:0,360,4167:127	1|0:50,47:97:99:1264,0,1458:127
1	160097666	.	G	A	11562.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs6695366;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6695366" target="_blank">rs6695366</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1017+56G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1018G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1018G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1018G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1018G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1018G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1018G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1018G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1018G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1018G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1018G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1017+56G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.1017+56G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160097666">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2066,177,0:127	1|0:31,37:68:99:1068,0,1013:127	1|1:0,52:52:99:1840,156,0:127
1	160098543	.	G	A	5350.76	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=595;MQ=69.95;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1063125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1063125" target="_blank">rs1063125</a>;ExAC.Info.AC=25060;ExAC.Info.AN=126704;ExAC.Info.AF=0.198;ExAC.Info.AC_Het=19390;ExAC.Info.AC_Hom=2832;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116446;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1119G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1119G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1119G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1119G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1119G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1119G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1119G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1119G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1119G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1119G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser373Ser/c.1119G>A;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1119G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.1119G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160098543">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116446" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:181,0:181:99:0,544,6238:127	0|0:233,0:233:99:0,699,7904:127	0|1:90,91:181:99:2694,0,2602:127
1	160098927	.	A	AG	18123.71	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs5778151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5778151" target="_blank">rs5778151</a>;ExAC.Info.AC=104718;ExAC.Info.AN=126688;ExAC.Info.AF=0.827;ExAC.Info.AC_Het=17443;ExAC.Info.AC_Hom=43453;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1326+49_1326+50insG;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327_1328insG;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327_1328insG;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327_1328insG;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327_1328insG;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327_1328insG;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327_1328insG;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327_1328insG;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327_1328insG;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327_1328insG;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327_1328insG;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1326+49dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.1326+49dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160098927">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3442,277,0:127	1|0:62,47:109:99:1413,0,1945:127	1|1:0,70:70:99:2615,211,0:127
1	160100201	.	C	G	14070.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=658;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Migraine|_familial_hemiplegic|_2|_602481_(3)|_Alternating_hemiplegia_of_childhood|_104290_(3)|_Migraine|_familial_basilar|_602481_(3);dbSNP139.ID=rs17846713;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17846713" target="_blank">rs17846713</a>;ExAC.Info.AC=4252;ExAC.Info.AN=126704;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=4035;ExAC.Info.AC_Hom=108;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1652-11C>G;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652C>G;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652C>G;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652C>G;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652C>G;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652C>G;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652C>G;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652C>G;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652C>G;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652C>G;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1652C>G;snpeff.Amino_Acid_length=1020;snpeff.Gene_Name=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361216;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361216;SAVANT_GENE=ATP1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A2" target="_blank">ATP1A2</a>;SAVANT_INFO=+/27.8kb/23/5.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1652-11C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A2+c.1652-11C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160100201">View</a>	GT:AD:DP:GQ:PL:TP	1|0:109,100:209:99:2918,0,3174:127	0|0:232,0:232:99:0,696,8497:127	1|0:110,107:217:99:3035,0,3160:127
1	160134056	.	G	A	4070.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=576;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17368402;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17368402" target="_blank">rs17368402</a>;ExAC.Info.AC=11561;ExAC.Info.AN=126704;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=10223;ExAC.Info.AC_Hom=669;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Aaa;snpeff.Amino_Acid_Change=p.Glu297Lys/c.889G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.889G>A_p.Glu297Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.889G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160134056">View</a>	GT:AD:DP:GQ:PL:TP	0|0:202,0:202:99:0,606,6637:127	0|0:232,0:232:99:0,697,8135:127	0|1:73,69:142:99:2054,0,1894:127
1	160136350	.	G	A	8627.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=275;MQ=69.09;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7529215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7529215" target="_blank">rs7529215</a>;ExAC.Info.AC=66958;ExAC.Info.AN=126700;ExAC.Info.AF=0.528;ExAC.Info.AC_Het=30670;ExAC.Info.AC_Hom=18135;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala360Ala/c.1080G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1080G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.1080G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160136350">View</a>	GT:AD:DP:GQ:PL:TP	0/1:52,37:89:99:1116,0,1576:127	0/1:60,40:100:99:1266,0,1775:127	0/1:45,41:86:99:1132,0,1382:127
1	160141196	.	C	T	45765.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=589;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs625549;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=625549" target="_blank">rs625549</a>;ExAC.Info.AC=126428;ExAC.Info.AN=126704;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=260;ExAC.Info.AC_Hom=63075;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr549Tyr/c.1647C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1647C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.1647C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160141196">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,174:174:99:5659,523,0:127	1|1:0,239:239:99:8004,718,0:127	1|1:0,176:176:99:5999,528,0:127
1	160141285	.	C	T	22079.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=506;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs669162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=669162" target="_blank">rs669162</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1681+55C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1681+55C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.1681+55C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160141285">View</a>	GT:AD:DP:GQ:PL:TP	0/1:66,64:130:99:2465,0,2579:127	0/1:115,97:212:99:3677,0,4597:127	0/1:79,85:164:99:3313,0,3061:127
1	160141286	.	C	G	22079.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=502;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs625129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=625129" target="_blank">rs625129</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1681+56C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1682C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1681+56C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.1681+56C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160141286">View</a>	GT:AD:DP:GQ:PL:TP	0/1:66,62:128:99:2465,0,2579:127	0/1:117,95:212:99:3677,0,4597:127	0/1:79,83:162:99:3313,0,3061:127
1	160147502	.	T	G	14880.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs731852;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=731852" target="_blank">rs731852</a>;ExAC.Info.AC=90931;ExAC.Info.AN=126684;ExAC.Info.AF=0.718;ExAC.Info.AC_Het=24494;ExAC.Info.AC_Hom=32954;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2736+48T>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737T>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737T>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2736+48T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.2736+48T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160147502">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:2402,163,0:127	1|0:35,22:57:99:785,0,1124:127	1|1:0,66:66:99:2653,199,0:127
1	160147510	.	G	A	8425.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs731853;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=731853" target="_blank">rs731853</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2736+56G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737G>A;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2736+56G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.2736+56G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160147510">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1748,144,0:127	1|0:34,18:52:99:466,0,2269:127	1|0:29,34:63:99:1048,0,1072:127
1	160147517	.	A	G	1730.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11801984;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11801984" target="_blank">rs11801984</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2736+63A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737A>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2736+63A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.2736+63A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160147517">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,129,1935:127	0|0:48,0:48:99:0,147,3010:127	0|1:32,24:56:99:884,0,1293:127
1	160147521	.	C	T	1644.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11806793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11806793" target="_blank">rs11806793</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2736+67C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737C>T;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2736+67C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.2736+67C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160147521">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1915:127	0|0:44,0:44:99:0,138,2877:127	0|1:26,21:47:99:841,0,1068:127
1	160151421	.	G	C	8657.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11265350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11265350" target="_blank">rs11265350</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2737-53G>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737G>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737G>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2737-53G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.2737-53G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160151421">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1722,150,0:127	1|0:32,25:57:99:656,0,877:127	1|0:25,22:47:99:615,0,731:127
1	160151450	.	T	C	14340.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7519748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7519748" target="_blank">rs7519748</a>;ExAC.Info.AC=92747;ExAC.Info.AN=126686;ExAC.Info.AF=0.732;ExAC.Info.AC_Het=23669;ExAC.Info.AC_Hom=34401;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2737-24T>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737T>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2737T>C;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2737-24T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.2737-24T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160151450">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2170,186,0:127	1|0:38,31:69:99:917,0,1040:127	1|1:0,60:60:99:2001,180,0:127
1	160151624	.	G	GC	15471.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs36097870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36097870" target="_blank">rs36097870</a>;ExAC.Info.AC=79794;ExAC.Info.AN=126698;ExAC.Info.AF=0.630;ExAC.Info.AC_Het=28110;ExAC.Info.AC_Hom=25834;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2867+21_2867+22insC;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2868_2869insC;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2868_2869insC;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2867+23dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.2867+23dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160151624">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:3021,271,0:127	1|0:63,52:115:99:1403,0,1824:127	1|0:40,49:89:99:1380,0,1110:127
1	160156027	.	C	G	9196.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12131640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12131640" target="_blank">rs12131640</a>;ExAC.Info.AC=45169;ExAC.Info.AN=126704;ExAC.Info.AF=0.356;ExAC.Info.AC_Het=27673;ExAC.Info.AC_Hom=8742;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2970-39C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970C>G;snpeff.Amino_Acid_length=1029;snpeff.Gene_Name=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368081;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368081;SAVANT_GENE=ATP1A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A4" target="_blank">ATP1A4</a>;SAVANT_INFO=+/35.4kb/22/3.8kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2970-39C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1A4+c.2970-39C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160156027">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:2054,162,0:127	1|0:34,25:59:99:887,0,1061:127	1|0:14,22:36:99:717,0,477:127
1	160168368	.	G	A	1772.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=209;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs822450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=822450" target="_blank">rs822450</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.829-99G>A;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=CASQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ1" target="_blank">CASQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368078;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368078;SAVANT_GENE=CASQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASQ1" target="_blank">CASQ1</a>;SAVANT_INFO=+/11.3kb/11/1.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.829-99G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASQ1+c.829-99G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160168368">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2057:127	0|1:47,32:79:99:905,0,1557:127	0|0:70,0:70:99:0,210,2546:127
1	160178356	.	A	G	8620.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs667306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=667306" target="_blank">rs667306</a>;ExAC.Info.AC=20997;ExAC.Info.AN=21062;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=36;ExAC.Info.AC_Hom=8777;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.27-179T>C;snpeff.Gene_Name=RP11-536C5.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-536C57" target="_blank">RP11-536C57</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39;snpeff.Amino_Acid_Change=c.-39A>G;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=PEA15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-536C57" target="_blank">RP11-536C57</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368076;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360472;SAVANT_GENE=PEA15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEA15" target="_blank">PEA15</a>;SAVANT_INFO=+/10.0kb/4/2.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-2979A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEA15+c.-2979A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160178356">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1021,90,0:98	1|1:0,43:43:99:1444,129,0:98	1|1:0,33:33:99:1159,99,0:98
1	160233265	.	C	CA	109.82	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=9;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11455653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11455653" target="_blank">rs11455653</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.436+14656_436+14655insT;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=DCAF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF8" target="_blank">DCAF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000608310;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.436+14656_436+14655insT;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=DCAF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF8" target="_blank">DCAF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000556710;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000556710;SAVANT_GENE=RP11-574F21.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574F213" target="_blank">RP11-574F213</a>;SAVANT_INFO=-/67.7kb/18/2.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.436+14655dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-574F213+c.436+14655dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160233265">View</a>	GT:AD:DP:GQ:PL:TP	0|1:1,3:4:13:62,0,13:4	1|0:3,1:4:13:13,0,62:4	0|0:1,0:1:3:0,3,25:4
1	160247185	.	G	C	15434.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_12A_(Zellweger)|_614886_(3);dbSNP139.ID=rs10594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10594" target="_blank">rs10594</a>;ExAC.Info.AC=7149;ExAC.Info.AN=14568;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=2749;ExAC.Info.AC_Hom=1868;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.436+736C>G;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=DCAF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF8" target="_blank">DCAF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000608310;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.436+736C>G;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=DCAF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF8" target="_blank">DCAF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000556710;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2156;snpeff.Amino_Acid_Change=c.*2156C>G;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=PEX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF8" target="_blank">DCAF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368072;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000556710:ENST00000368072;SAVANT_GENE=RP11-574F21.3:PEX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574F213:PEX19" target="_blank">RP11-574F213:PEX19</a>;SAVANT_INFO=-/67.7kb/18/2.6kb:-/8.3kb/8/3.7kb;SAVANT_LOC=In6/7:3UTR;SAVANT_HGVS=c.436+736C>G:c.*2156C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-574F213:PEX19+c.436+736C>G:c.*2156C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160247185">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2575,228,0:127	1|0:48,33:81:99:936,0,1493:127	1|1:0,85:85:99:2923,255,0:127
1	160251792	.	A	G	24382.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_12A_(Zellweger)|_614886_(3);dbSNP139.ID=rs2795067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2795067" target="_blank">rs2795067</a>;ExAC.Info.AC=74481;ExAC.Info.AN=126656;ExAC.Info.AF=0.588;ExAC.Info.AC_Het=28673;ExAC.Info.AC_Hom=22000;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.153+37T>C;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=DCAF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF8" target="_blank">DCAF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000608310;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.153+37T>C;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=DCAF8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF8" target="_blank">DCAF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000556710;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.594+37T>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=PEX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF8" target="_blank">DCAF8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368072;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000556710:ENST00000368072;SAVANT_GENE=RP11-574F21.3:PEX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574F213:PEX19" target="_blank">RP11-574F213:PEX19</a>;SAVANT_INFO=-/67.7kb/18/2.6kb:-/8.3kb/8/3.7kb;SAVANT_LOC=In3/4:In5/6;SAVANT_HGVS=c.153+37T>C:c.594+37T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-574F213:PEX19+c.153+37T>C:c.594+37T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160251792">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,121:121:99:4460,364,0:127	1|0:57,60:117:99:1851,0,1680:127	1|1:0,120:120:99:4317,360,0:127
1	160260233	.	T	C	10630.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Acne_inversa|_familial|_1|_142690_(3)|Acne_inversa|_familial|_1|_142690_(3);dbSNP139.ID=rs2298104;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298104" target="_blank">rs2298104</a>;ExAC.Info.AC=60396;ExAC.Info.AN=126580;ExAC.Info.AF=0.477;ExAC.Info.AC_Het=29802;ExAC.Info.AC_Hom=14602;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3642+49A>G;snpeff.Amino_Acid_length=1233;snpeff.Gene_Name=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368069;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368069;SAVANT_GENE=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;SAVANT_INFO=-/54.0kb/33/4.7kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.3642+49A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COPA+c.3642+49A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160260233">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2629,193,0:114	1|0:28,20:48:99:677,0,902:114	1|1:0,38:38:99:1469,114,0:114
1	160263124	.	C	T	33463.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=535;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Acne_inversa|_familial|_1|_142690_(3)|Acne_inversa|_familial|_1|_142690_(3);dbSNP139.ID=rs1317944;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1317944" target="_blank">rs1317944</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2781+52G>A;snpeff.Amino_Acid_length=1233;snpeff.Gene_Name=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368069;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368069;SAVANT_GENE=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;SAVANT_INFO=-/54.0kb/33/4.7kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2781+52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COPA+c.2781+52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160263124">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,156:156:99:5101,468,0:127	1|0:102,91:193:99:2587,0,3208:127	1|1:1,185:186:99:6380,525,0:127
1	160275434	.	A	G	27189.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Acne_inversa|_familial|_1|_142690_(3)|Acne_inversa|_familial|_1|_142690_(3);dbSNP139.ID=rs2066320;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066320" target="_blank">rs2066320</a>;ExAC.Info.AC=121786;ExAC.Info.AN=126696;ExAC.Info.AF=0.961;ExAC.Info.AC_Het=4668;ExAC.Info.AC_Hom=58535;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1528+44T>C;snpeff.Amino_Acid_length=1233;snpeff.Gene_Name=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368069;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368069;SAVANT_GENE=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;SAVANT_INFO=-/54.0kb/33/4.7kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1528+44T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COPA+c.1528+44T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160275434">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:3190,256,0:127	1|1:0,119:119:99:4653,358,0:127	1|1:0,99:99:99:3643,298,0:127
1	160303416	.	G	A	48091.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=788;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Acne_inversa|_familial|_1|_142690_(3)|Acne_inversa|_familial|_1|_142690_(3);dbSNP139.ID=rs1802778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1802778" target="_blank">rs1802778</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=73077;ExAC.Info.AN=126704;ExAC.Info.AF=0.577;ExAC.Info.AC_Het=29351;ExAC.Info.AC_Hom=21782;snpeff.Effect=sequence_feature[repeat:WD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.363G>A;snpeff.Amino_Acid_length=1233;snpeff.Gene_Name=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368069;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.363G>A;snpeff.Amino_Acid_length=1233;snpeff.Gene_Name=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368069;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn121Asn/c.363C>T;snpeff.Amino_Acid_length=1233;snpeff.Gene_Name=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368069;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368069;SAVANT_GENE=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;SAVANT_INFO=-/54.0kb/33/4.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.363C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COPA+c.363C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160303416">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,255:255:99:8310,769,0:127	1|0:155,133:288:99:3812,0,4812:127	1|1:0,245:245:99:8259,736,0:127
1	160309664	.	T	G	16264.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=245;MQ=69.89;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Acne_inversa|_familial|_1|_142690_(3)|Acne_inversa|_familial|_1|_142690_(3);dbSNP139.ID=rs1886419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1886419" target="_blank">rs1886419</a>;ExAC.Info.AC=74472;ExAC.Info.AN=126696;ExAC.Info.AF=0.588;ExAC.Info.AC_Het=29188;ExAC.Info.AC_Hom=22604;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228+35A>C;snpeff.Amino_Acid_length=1233;snpeff.Gene_Name=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368069;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229T>G;snpeff.Amino_Acid_length=1233;snpeff.Gene_Name=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229T>G;snpeff.Amino_Acid_length=1233;snpeff.Gene_Name=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368069;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229T>G;snpeff.Amino_Acid_length=1233;snpeff.Gene_Name=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368069;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368069;SAVANT_GENE=COPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPA" target="_blank">COPA</a>;SAVANT_INFO=-/54.0kb/33/4.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.228+35A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COPA+c.228+35A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160309664">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2475,210,0:127	1|0:55,51:106:99:1601,0,1613:127	1|1:0,69:69:99:2558,207,0:127
1	160318940	.	A	G	18100.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Acne_inversa|_familial|_1|_142690_(3)|Acne_inversa|_familial|_1|_142690_(3);dbSNP139.ID=rs6669689;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6669689" target="_blank">rs6669689</a>;ExAC.Info.AC=66611;ExAC.Info.AN=126698;ExAC.Info.AF=0.526;ExAC.Info.AC_Het=31237;ExAC.Info.AC_Hom=17542;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.314+28A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294785;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294785;SAVANT_GENE=NCSTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCSTN" target="_blank">NCSTN</a>;SAVANT_INFO=+/15.7kb/17/2.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.314+28A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NCSTN+c.314+28A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160318940">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2197,183,0:127	1|1:0,82:82:99:3034,246,0:127	1|1:0,68:68:99:2587,204,0:127
1	160386082	.	A	G	14027.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs17371401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17371401" target="_blank">rs17371401</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.192+110A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.193A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.193A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.193A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368061;SAVANT_GENE=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;SAVANT_INFO=+/28.1kb/8/5.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.192+110A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VANGL2+c.192+110A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160386082">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,51:95:99:1522,0,1198:127	0|1:60,56:116:99:1630,0,1692:127	1|1:0,91:91:99:3203,273,0:127
1	160393905	.	A	G	10461.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs12086448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12086448" target="_blank">rs12086448</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=65873;ExAC.Info.AN=126704;ExAC.Info.AF=0.520;ExAC.Info.AC_Het=30314;ExAC.Info.AC_Hom=17760;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys379Lys/c.1137A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368061;SAVANT_GENE=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;SAVANT_INFO=+/28.1kb/8/5.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1137A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VANGL2+c.1137A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160393905">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,31:59:99:1091,0,811:127	0|1:39,38:77:99:1287,0,1250:127	1|1:0,50:50:99:1981,150,0:127
1	160394937	.	A	C	9437.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs17380127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17380127" target="_blank">rs17380127</a>;ExAC.Info.AC=31747;ExAC.Info.AN=126704;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=23361;ExAC.Info.AC_Hom=4174;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1335A>C;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1335A>C;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1335A>C;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1335A>C;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1335A>C;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly445Gly/c.1335A>C;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368061;SAVANT_GENE=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;SAVANT_INFO=+/28.1kb/8/5.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1335A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VANGL2+c.1335A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160394937">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,18:52:99:475,0,922:127	0|1:27,36:63:99:1116,0,783:127	1|1:0,63:63:99:2298,189,0:127
1	160395003	.	G	A	9911.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs17380141;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17380141" target="_blank">rs17380141</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=32501;ExAC.Info.AN=126704;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=23800;ExAC.Info.AC_Hom=4333;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401G>A;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401G>A;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401G>A;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401G>A;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1401G>A;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro467Pro/c.1401G>A;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368061;SAVANT_GENE=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;SAVANT_INFO=+/28.1kb/8/5.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1401G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VANGL2+c.1401G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160395003">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,30:56:99:881,0,761:127	0|1:35,42:77:99:1190,0,930:127	1|1:0,66:66:99:2297,198,0:127
1	160395276	.	C	CT	8266.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs5778163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5778163" target="_blank">rs5778163</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=109;snpeff.Amino_Acid_Change=c.*109_*110insT;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368061;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368061;SAVANT_GENE=VANGL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VANGL2" target="_blank">VANGL2</a>;SAVANT_INFO=+/28.1kb/8/5.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*118dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=VANGL2+c.*118dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160395276">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,40:94:99:792,0,1174:105	0|1:65,60:125:99:1239,0,1396:105	1|1:5,71:76:99:1817,106,0:105
1	160458782	.	A	G	32933.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3795327;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795327" target="_blank">rs3795327</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.879+96T>C;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=SLAMF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF6" target="_blank">SLAMF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368057;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.880A>G;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=SLAMF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF6" target="_blank">SLAMF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368057;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.880A>G;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=SLAMF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF6" target="_blank">SLAMF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368057;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.880A>G;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=SLAMF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF6" target="_blank">SLAMF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368057;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.880A>G;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=SLAMF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF6" target="_blank">SLAMF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368057;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.880A>G;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=SLAMF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF6" target="_blank">SLAMF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368057;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368057;SAVANT_GENE=SLAMF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF6" target="_blank">SLAMF6</a>;SAVANT_INFO=-/38.2kb/8/2.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.879+96T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLAMF6+c.879+96T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160458782">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,130:130:99:4309,390,0:127	1|1:0,150:150:99:4978,450,0:127	1|1:0,144:144:99:4826,433,0:127
1	160516262	.	A	G	39229.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=597;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs11585738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11585738" target="_blank">rs11585738</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CD84;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD84" target="_blank">CD84</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.115+9285A>G;snpeff.Gene_Name=RP11-528G1.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD84" target="_blank">CD84</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446952;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD84" target="_blank">CD84</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD84+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160516262">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,172:172:99:5927,515,0:127	1|1:0,242:242:99:8691,727,0:127	1|0:99,84:183:99:2419,0,2687:127
1	160516308	.	A	G	46448.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=588;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6427528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427528" target="_blank">rs6427528</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CD84;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD84" target="_blank">CD84</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.115+9331A>G;snpeff.Gene_Name=RP11-528G1.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD84" target="_blank">CD84</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446952;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD84" target="_blank">CD84</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD84+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160516308">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,165:165:99:5624,495,0:127	1|1:0,237:237:99:8119,712,0:127	1|1:0,186:186:99:6493,559,0:127
1	160585554	.	C	G	41847.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=494;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs149160;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149160" target="_blank">rs149160</a>;ExAC.Info.AC=19791;ExAC.Info.AN=19854;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=30;ExAC.Info.AC_Hom=8184;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.865-3184G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=SLAMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF1" target="_blank">SLAMF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302035;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=SLAMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF1" target="_blank">SLAMF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302035;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=SLAMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF1" target="_blank">SLAMF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302035;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=SLAMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF1" target="_blank">SLAMF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302035;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865C>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=SLAMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF1" target="_blank">SLAMF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302035;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302035;SAVANT_GENE=SLAMF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLAMF1" target="_blank">SLAMF1</a>;SAVANT_INFO=-/39.2kb/7/4.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.865-3184G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLAMF1+c.865-3184G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160585554">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:5465,472,0:127	1|1:0,179:179:99:6330,538,0:127	1|1:0,158:158:99:5370,475,0:127
1	160786670	.	A	G	3047.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs560681;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=560681" target="_blank">rs560681</a>;ExAC.Info.AC=40616;ExAC.Info.AN=126690;ExAC.Info.AF=0.321;ExAC.Info.AC_Het=27240;ExAC.Info.AC_Hom=6665;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1342+17A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368041;SAVANT_GENE=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;SAVANT_INFO=+/32.1kb/10/2.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1342+17A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LY9+c.1342+17A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160786670">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,21:45:99:634,0,642:84	0|0:28,0:28:84:0,84,965:84	1|0:17,20:37:99:651,0,517:84
1	160789196	.	A	C	15324.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs537540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=537540" target="_blank">rs537540</a>;ExAC.Info.AC=126400;ExAC.Info.AN=126702;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=292;ExAC.Info.AC_Hom=63037;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1498+32A>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1499A>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1499A>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1499A>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1499A>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1499A>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368041;SAVANT_GENE=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;SAVANT_INFO=+/32.1kb/10/2.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1498+32A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LY9+c.1498+32A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160789196">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2417,186,0:127	1|1:0,54:54:99:2032,162,0:127	1|1:0,60:60:99:2364,180,0:127
1	160793442	.	A	G	25795.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=447;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs474131;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=474131" target="_blank">rs474131</a>;ExAC.Info.AC=66919;ExAC.Info.AN=126704;ExAC.Info.AF=0.528;ExAC.Info.AC_Het=29325;ExAC.Info.AC_Hom=18792;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val562Val/c.1686A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368041;SAVANT_GENE=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;SAVANT_INFO=+/32.1kb/10/2.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1686A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LY9+c.1686A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160793442">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:4700,394,0:127	1|0:84,92:176:99:2888,0,2170:127	1|0:74,66:140:99:2082,0,2042:127
1	160793560	.	A	G	18549.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs509749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=509749" target="_blank">rs509749</a>;ExAC.Info.AC=67995;ExAC.Info.AN=126698;ExAC.Info.AF=0.537;ExAC.Info.AC_Het=28912;ExAC.Info.AC_Hom=19502;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1804A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1804A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1804A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1804A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1804A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met602Val/c.1804A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368041;SAVANT_GENE=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;SAVANT_INFO=+/32.1kb/10/2.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1804A>G_p.Met602Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LY9+c.1804A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160793560">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3396,294,0:127	1|0:49,59:108:99:1823,0,1413:127	1|0:53,47:100:99:1531,0,1677:127
1	160793962	.	G	C	9741.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs506081;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=506081" target="_blank">rs506081</a>;ExAC.Info.AC=67116;ExAC.Info.AN=126702;ExAC.Info.AF=0.530;ExAC.Info.AC_Het=29263;ExAC.Info.AC_Hom=18912;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1831-9G>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1831G>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1831G>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1831G>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1831G>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1831G>C;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368041;SAVANT_GENE=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;SAVANT_INFO=+/32.1kb/10/2.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1831-9G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LY9+c.1831-9G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160793962">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2082,177,0:127	1|0:30,42:72:99:1223,0,967:127	1|0:24,27:51:99:764,0,684:127
1	160797514	.	C	G	21459.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs576334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=576334" target="_blank">rs576334</a>;ExAC.Info.AC=68944;ExAC.Info.AN=126674;ExAC.Info.AF=0.544;ExAC.Info.AC_Het=29342;ExAC.Info.AC_Hom=19598;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1900-24C>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1900C>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1900C>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1900C>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1900C>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1900C>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263285;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368041;SAVANT_GENE=LY9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LY9" target="_blank">LY9</a>;SAVANT_INFO=+/32.1kb/10/2.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1900-24C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LY9+c.1900-24C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160797514">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:4175,361,0:127	1|0:93,62:155:99:1725,0,2983:127	1|0:68,52:120:99:1396,0,2029:127
1	160801046	.	C	G	19821.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1043;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs480104;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=480104" target="_blank">rs480104</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=91;snpeff.Amino_Acid_Change=c.*91G>C;snpeff.Amino_Acid_length=370;snpeff.Gene_Name=CD244;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD244" target="_blank">CD244</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368033;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368033;SAVANT_GENE=CD244;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD244" target="_blank">CD244</a>;SAVANT_INFO=-/31.6kb/9/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*91G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD244+c.*91G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160801046">View</a>	GT:AD:DP:GQ:PL:TP	1|0:171,164:335:99:4809,0,4949:127	0|0:370,1:371:99:0,1072,13123:127	1|0:184,153:337:99:4657,0,5414:127
1	160850936	.	T	C	22631.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=679;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2236515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236515" target="_blank">rs2236515</a>;ExAC.Info.AC=86036;ExAC.Info.AN=126634;ExAC.Info.AF=0.679;ExAC.Info.AC_Het=26715;ExAC.Info.AC_Hom=28857;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.564+8A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.565T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.565T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.565T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.565T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.565T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.565A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326245;SAVANT_GENE=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;SAVANT_INFO=-/8.6kb/8/1.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.564+8A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITLN1+c.564+8A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160850936">View</a>	GT:AD:DP:GQ:PL:TP	0/1:100,94:194:99:2667,0,2948:127	0/1:130,137:267:99:3789,0,3684:127	0/1:115,103:218:99:2822,0,3279:127
1	160851826	.	A	T	5656.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=170;MQ=69.42;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2274907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274907" target="_blank">rs2274907</a>;ExAC.Info.AC=82239;ExAC.Info.AN=126704;ExAC.Info.AF=0.649;ExAC.Info.AC_Het=27688;ExAC.Info.AC_Hom=27271;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gAc;snpeff.Amino_Acid_Change=p.Val109Asp/c.326T>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326245;SAVANT_GENE=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;SAVANT_INFO=-/8.6kb/8/1.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.326T>A_p.Val109Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITLN1+c.326T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160851826">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,31:54:99:780,0,614:127	0/1:33,35:68:99:921,0,959:127	0/1:19,29:48:99:812,0,441:127
1	160852022	.	C	T	7860.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2274909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274909" target="_blank">rs2274909</a>;ExAC.Info.AC=77755;ExAC.Info.AN=122380;ExAC.Info.AF=0.635;ExAC.Info.AC_Het=24945;ExAC.Info.AC_Hom=24398;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.158-28G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.158C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.158C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.158C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.158C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.158C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326245;SAVANT_GENE=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;SAVANT_INFO=-/8.6kb/8/1.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.158-28G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITLN1+c.158-28G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160852022">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,43:80:99:1059,0,923:127	0/1:52,46:98:99:1265,0,1458:127	0/1:41,36:77:99:994,0,1214:127
1	160852046	.	T	C	6165.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2274910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274910" target="_blank">rs2274910</a>;ExAC.Info.AC=76562;ExAC.Info.AN=120418;ExAC.Info.AF=0.636;ExAC.Info.AC_Het=24752;ExAC.Info.AC_Hom=24071;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.158-52A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.158T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.158T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.158T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.158T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.158T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326245;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326245;SAVANT_GENE=ITLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN1" target="_blank">ITLN1</a>;SAVANT_INFO=-/8.6kb/8/1.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.158-52A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITLN1+c.158-52A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160852046">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,32:56:99:897,0,643:127	0/1:43,33:76:99:886,0,1172:127	0/1:37,25:62:99:755,0,976:127
1	160920809	.	A	G	3905.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=161;MQ=69.83;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3829790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829790" target="_blank">rs3829790</a>;ExAC.Info.AC=68299;ExAC.Info.AN=126702;ExAC.Info.AF=0.539;ExAC.Info.AC_Het=30411;ExAC.Info.AC_Hom=18930;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.441+24T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.442A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.442A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.442A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.442A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.442A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368029;SAVANT_GENE=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;SAVANT_INFO=-/9.8kb/8/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.441+24T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITLN2+c.441+24T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160920809">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,29:63:99:705,0,884:114	1|0:34,26:60:99:769,0,956:114	0|0:38,0:38:99:0,114,1398:114
1	160920813	.	A	G	16009.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=171;MQ=69.84;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs790059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=790059" target="_blank">rs790059</a>;ExAC.Info.AC=126181;ExAC.Info.AN=126702;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=517;ExAC.Info.AC_Hom=62818;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.441+20T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.442A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.442A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.442A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.442A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.442A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368029;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368029;SAVANT_GENE=ITLN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITLN2" target="_blank">ITLN2</a>;SAVANT_INFO=-/9.8kb/8/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.441+20T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITLN2+c.441+20T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160920813">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2519,195,0:123	1|1:0,65:65:99:2540,195,0:123	1|1:0,41:41:99:1531,123,0:123
1	160968609	.	G	A	15697.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs41269993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41269993" target="_blank">rs41269993</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=22571;snpeff.Amino_Acid_Change=n.*993C>T;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=52;snpeff.Amino_Acid_Change=c.*52C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368026;SAVANT_GENE=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;SAVANT_INFO=-/26.0kb/10/4.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*52C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F11R+c.*52C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160968609">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:3011,253,0:127	1|0:54,56:110:99:1760,0,1409:127	1|0:43,38:81:99:1143,0,1374:127
1	160969585	.	C	T	23436.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs790056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=790056" target="_blank">rs790056</a>;ExAC.Info.AC=102651;ExAC.Info.AN=126698;ExAC.Info.AF=0.810;ExAC.Info.AC_Het=19201;ExAC.Info.AC_Hom=41585;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.695-48G>A;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*736-48G>A;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368026;SAVANT_GENE=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;SAVANT_INFO=-/26.0kb/10/4.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.695-48G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F11R+c.695-48G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160969585">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2854,261,0:127	1|1:0,105:105:99:3632,316,0:127	1|1:0,79:79:99:2737,238,0:127
1	160969930	.	A	C	4621.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs869985;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=869985" target="_blank">rs869985</a>;ExAC.Info.AC=31293;ExAC.Info.AN=126700;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=22803;ExAC.Info.AC_Hom=4243;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.591+6T>G;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*632+6T>G;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592T>G;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.819T>G;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368026;SAVANT_GENE=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;SAVANT_INFO=-/26.0kb/10/4.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.591+6T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F11R+c.591+6T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160969930">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:1017,78,0:78	1|0:12,17:29:99:551,0,338:78	1|0:10,7:17:99:175,0,315:78
1	160970089	.	C	T	3254.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72712862;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72712862" target="_blank">rs72712862</a>;ExAC.Info.AC=794;ExAC.Info.AN=126704;ExAC.Info.AF=6.267e-03;ExAC.Info.AC_Het=786;ExAC.Info.AC_Hom=4;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=21091;snpeff.Amino_Acid_Change=n.*479G>A;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly146Gly/c.438G>A;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368026;SAVANT_GENE=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;SAVANT_INFO=-/26.0kb/10/4.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.438G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F11R+c.438G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160970089">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,12:26:99:361,0,404:127	1|0:24,26:50:99:753,0,634:127	0|0:46,0:46:99:0,138,1518:127
1	160971146	.	A	G	9148.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs790055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=790055" target="_blank">rs790055</a>;ExAC.Info.AC=101885;ExAC.Info.AN=126704;ExAC.Info.AF=0.804;ExAC.Info.AC_Het=19749;ExAC.Info.AC_Hom=40989;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.65-3T>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*106-3T>C;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65A>G;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65A>G;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.292T>C;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368026;SAVANT_GENE=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;SAVANT_INFO=-/26.0kb/10/4.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.65-3T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F11R+c.65-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160971146">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:66:964,66,0:45	1|1:0,42:42:99:1673,126,0:45	1|1:0,15:15:45:628,45,0:45
1	160971155	.	G	C	5418.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2297219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297219" target="_blank">rs2297219</a>;ExAC.Info.AC=31245;ExAC.Info.AN=126700;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=22788;ExAC.Info.AC_Hom=4179;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.65-12C>G;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*106-12C>G;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65G>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65G>C;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368026;SAVANT_GENE=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;SAVANT_INFO=-/26.0kb/10/4.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.65-12C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F11R+c.65-12C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160971155">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:841,72,0:71	1|0:21,22:43:99:617,0,599:71	1|0:5,10:15:99:346,0,129:71
1	160990875	.	T	C	8738.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs28365980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28365980" target="_blank">rs28365980</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=305;snpeff.Amino_Acid_Change=n.*30A>G;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.-12A>G;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368026;SAVANT_GENE=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;SAVANT_INFO=-/26.0kb/10/4.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F11R+c.-12A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160990875">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,271,4020:127	0|1:55,64:119:99:2524,0,2217:127	0|1:33,47:80:99:1865,0,1369:127
1	160990876	.	C	A	8778.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs28365979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28365979" target="_blank">rs28365979</a>;ExAC.Info.AC=69862;ExAC.Info.AN=126664;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=30845;ExAC.Info.AC_Hom=19034;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=304;snpeff.Amino_Acid_Change=n.*29G>T;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=13;snpeff.Amino_Acid_Change=c.-13G>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368026;SAVANT_GENE=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;SAVANT_INFO=-/26.0kb/10/4.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-13G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F11R+c.-13G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160990876">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,2:87:99:0,212,2837:127	0|1:56,64:120:99:2519,0,1641:127	0|1:35,47:82:99:1890,0,916:127
1	160990878	.	C	T	8744.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs28365978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28365978" target="_blank">rs28365978</a>;ExAC.Info.AC=69856;ExAC.Info.AN=126684;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=30830;ExAC.Info.AC_Hom=19023;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=302;snpeff.Amino_Acid_Change=n.*27G>A;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.-15G>A;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368026;SAVANT_GENE=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;SAVANT_INFO=-/26.0kb/10/4.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-15G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F11R+c.-15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160990878">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,268,3967:127	0|1:55,63:118:99:2505,0,2180:127	0|1:36,47:83:99:1887,0,1347:127
1	160990906	.	G	A	13885.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2481085;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2481085" target="_blank">rs2481085</a>;ExAC.Info.AC=31265;ExAC.Info.AN=126672;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=23009;ExAC.Info.AC_Hom=3979;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*3-4C>T;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=43;snpeff.Amino_Acid_Change=c.-43C>T;snpeff.Amino_Acid_length=299;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368026;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.189C>T;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368026;SAVANT_GENE=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F11R" target="_blank">F11R</a>;SAVANT_INFO=-/26.0kb/10/4.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-43C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F11R+c.-43C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:160990906">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2532,225,0:127	1|0:41,41:82:99:1207,0,1331:127	1|0:33,23:56:99:771,0,1046:127
1	161008572	.	C	A	994.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3766383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766383" target="_blank">rs3766383</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11-88G>T;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=TSTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSTD1" target="_blank">TSTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368023;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.10+98G>T;snpeff.Gene_Name=F11R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSTD1" target="_blank">TSTD1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000289779;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423014;SAVANT_GENE=TSTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSTD1" target="_blank">TSTD1</a>;SAVANT_INFO=-/1.4kb/4/0.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.10+98G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSTD1+c.10+98G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161008572">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1495:113	0|0:53,0:53:99:0,159,1934:113	0|1:15,17:32:99:516,0,374:113
1	161009523	.	G	A	6530.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3737787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737787" target="_blank">rs3737787</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Reduced_adiposity_indices|_in_women|_association_with;hgmd_2014.2.OMIM_ID=191523;hgmd_2014.2.PubMed=17309647;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17309647" target="_blank">17309647</a>;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000013088;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=187;snpeff.Amino_Acid_Change=c.*187C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=USF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USF1" target="_blank">USF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368021;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368021;SAVANT_GENE=USF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USF1" target="_blank">USF1</a>;SAVANT_INFO=-/6.7kb/11/1.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*187C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USF1+c.*187C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161009523">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013088" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1469,123,0:123	1|0:27,19:46:99:561,0,765:123	1|0:26,21:47:99:637,0,765:123
1	161011317	.	A	G	34727.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2516840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2516840" target="_blank">rs2516840</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.473-116T>C;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=USF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USF1" target="_blank">USF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368021;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368021;SAVANT_GENE=USF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USF1" target="_blank">USF1</a>;SAVANT_INFO=-/6.7kb/11/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.473-116T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USF1+c.473-116T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161011317">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4328,388,0:127	1|1:0,179:179:99:6357,538,0:127	1|1:0,136:136:99:4926,409,0:127
1	161011355	.	G	C	27580.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=572;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2073656;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2073656" target="_blank">rs2073656</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.472+86C>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=USF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USF1" target="_blank">USF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368021;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368021;SAVANT_GENE=USF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USF1" target="_blank">USF1</a>;SAVANT_INFO=-/6.7kb/11/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.472+86C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USF1+c.472+86C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161011355">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,165:166:99:5750,468,0:127	1|0:124,116:240:99:3406,0,3680:127	1|0:86,80:166:99:2375,0,2851:127
1	161012760	.	T	C	3838.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2073653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2073653" target="_blank">rs2073653</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9-88A>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=USF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USF1" target="_blank">USF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368021;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368021;SAVANT_GENE=USF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USF1" target="_blank">USF1</a>;SAVANT_INFO=-/6.7kb/11/1.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.9-88A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USF1+c.9-88A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161012760">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,321,3580:127	0|0:122,0:122:99:0,366,4360:127	0|1:57,65:122:99:1938,0,1678:127
1	161013121	.	C	T	28023.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2516839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2516839" target="_blank">rs2516839</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=56;snpeff.Amino_Acid_Change=c.-56G>A;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=USF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USF1" target="_blank">USF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368021;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368021;SAVANT_GENE=USF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USF1" target="_blank">USF1</a>;SAVANT_INFO=-/6.7kb/11/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-56G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USF1+c.-56G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161013121">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3402,318,0:127	1|1:2,171:173:99:5734,470,0:127	1|0:74,76:150:99:1971,0,2075:127
1	161017556	.	C	T	3190.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2774279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2774279" target="_blank">rs2774279</a>;ExAC.Info.AC=34110;ExAC.Info.AN=126416;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=22972;ExAC.Info.AC_Hom=4789;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg1085Arg/c.3255G>A;snpeff.Amino_Acid_length=1101;snpeff.Gene_Name=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368013;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368013;SAVANT_GENE=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;SAVANT_INFO=-/23.0kb/12/4.4kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.3255G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP30+c.3255G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161017556">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2812:127	0|1:56,54:110:99:1614,0,1717:127	0|0:100,0:100:99:0,301,3687:127
1	161019040	.	G	C	26174.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3813609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813609" target="_blank">rs3813609</a>;ExAC.Info.AC=65847;ExAC.Info.AN=126692;ExAC.Info.AF=0.520;ExAC.Info.AC_Het=29601;ExAC.Info.AC_Hom=18068;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Gtg;snpeff.Amino_Acid_Change=p.Leu591Val/c.1771C>G;snpeff.Amino_Acid_length=1101;snpeff.Gene_Name=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368013;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368013;SAVANT_GENE=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;SAVANT_INFO=-/23.0kb/12/4.4kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1771C>G_p.Leu591Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP30+c.1771C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161019040">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,123:125:99:3947,326,0:127	1|1:0,136:136:99:4487,409,0:127	1|0:76,58:134:99:1479,0,2033:127
1	161022380	.	G	A	17664.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4396136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4396136" target="_blank">rs4396136</a>;ExAC.Info.AC=97590;ExAC.Info.AN=126672;ExAC.Info.AF=0.770;ExAC.Info.AC_Het=22095;ExAC.Info.AC_Hom=37625;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.836+36C>T;snpeff.Amino_Acid_length=1101;snpeff.Gene_Name=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368013;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368013;SAVANT_GENE=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;SAVANT_INFO=-/23.0kb/12/4.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.836+36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP30+c.836+36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161022380">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2859,228,0:127	1|1:0,60:60:99:2194,180,0:127	1|1:0,70:70:99:2708,211,0:127
1	161030059	.	CA	C	224.78	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=8;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs66818503;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66818503" target="_blank">rs66818503</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.98-554delT;snpeff.Amino_Acid_length=1101;snpeff.Gene_Name=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368013;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98delA;snpeff.Amino_Acid_length=1101;snpeff.Gene_Name=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368013;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98delA;snpeff.Amino_Acid_length=1101;snpeff.Gene_Name=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368013;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98delA;snpeff.Amino_Acid_length=1101;snpeff.Gene_Name=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368013;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98delA;snpeff.Amino_Acid_length=1101;snpeff.Gene_Name=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368013;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98delA;snpeff.Amino_Acid_length=1101;snpeff.Gene_Name=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368013;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98delA;snpeff.Amino_Acid_length=1101;snpeff.Gene_Name=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368013;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368013;SAVANT_GENE=ARHGAP30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP30" target="_blank">ARHGAP30</a>;SAVANT_INFO=-/23.0kb/12/4.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.98-554delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP30+c.98-554delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161030059">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,5:5:15:132,15,0:4	1|0:1,0:1:2:0,3,27:4	1|0:1,1:2:4:21,0,4:4
1	161049358	.	G	A	6112.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=74;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ectodermal_dysplasia-syndactyly_syndrome_1|_613573_(3);dbSNP139.ID=rs3820097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820097" target="_blank">rs3820097</a>;ExAC.Info.AC=105688;ExAC.Info.AN=122570;ExAC.Info.AF=0.862;ExAC.Info.AC_Het=12572;ExAC.Info.AC_Hom=42226;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.439+22C>T;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.440G>A;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.440G>A;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.440G>A;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.440G>A;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.440G>A;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368012;SAVANT_GENE=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;SAVANT_INFO=-/18.6kb/9/3.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.439+22C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PVRL4+c.439+22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161049358">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1219,108,0:50	1|1:0,17:17:51:642,51,0:50	1|1:0,21:21:63:819,63,0:50
1	161049509	.	G	T	974.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ectodermal_dysplasia-syndactyly_syndrome_1|_613573_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35434391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35434391" target="_blank">rs35434391</a>;ExAC.Info.AC=9588;ExAC.Info.AN=125610;ExAC.Info.AF=0.076;ExAC.Info.AC_Het=8341;ExAC.Info.AC_Hom=476;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.310G>T;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.310G>T;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.310G>T;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.310G>T;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.310G>T;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.310G>T;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.310G>T;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Aca;snpeff.Amino_Acid_Change=p.Pro104Thr/c.310C>A;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368012;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368012;SAVANT_GENE=PVRL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PVRL4" target="_blank">PVRL4</a>;SAVANT_INFO=-/18.6kb/9/3.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.310C>A_p.Pro104Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PVRL4+c.310C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161049509">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1246:101	0|1:21,18:39:99:506,0,693:101	0|0:57,0:57:99:0,171,2025:101
1	161068836	.	A	C	13293.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=431;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11576830;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11576830" target="_blank">rs11576830</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=33125;ExAC.Info.AN=125864;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=21943;ExAC.Info.AC_Hom=4141;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Cgc;snpeff.Amino_Acid_Change=p.Ser171Arg/c.511A>C;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=KLHDC9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC9" target="_blank">KLHDC9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368011;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368011;SAVANT_GENE=KLHDC9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC9" target="_blank">KLHDC9</a>;SAVANT_INFO=+/2.0kb/4/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.511A>C_p.Ser171Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC9+c.511A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161068836">View</a>	GT:AD:DP:GQ:PL:TP	0/1:76,61:137:99:1727,0,2184:127	0/1:96,77:173:99:2132,0,2935:127	0/1:63,58:121:99:1710,0,1922:127
1	161089450	.	C	CTAAACT	5795.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs111473243;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111473243" target="_blank">rs111473243</a>;ExAC.Info.AC=45656;ExAC.Info.AN=126560;ExAC.Info.AF=0.361;ExAC.Info.AC_Het=28561;ExAC.Info.AC_Hom=7517;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.457+49_457+50insTAAACT;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=NIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIT1" target="_blank">NIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368009;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CN_hydrolase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.458_459insTAAACT;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=NIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIT1" target="_blank">NIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368009;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CN_hydrolase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.458_459insTAAACT;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=NIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIT1" target="_blank">NIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368009;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CN_hydrolase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.458_459insTAAACT;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=NIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIT1" target="_blank">NIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368009;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CN_hydrolase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.458_459insTAAACT;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=NIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIT1" target="_blank">NIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368009;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CN_hydrolase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.458_459insTAAACT;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=NIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIT1" target="_blank">NIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368009;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368009;SAVANT_GENE=NIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NIT1" target="_blank">NIT1</a>;SAVANT_INFO=+/3.0kb/7/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.457+50_457+51insAACTTA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NIT1+c.457+50_457+51insAACTTA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161089450">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,27:42:99:1161,0,769:127	0/1:20,25:45:99:986,0,1143:127	0/1:27,15:42:99:548,0,1357:127
1	161126975	.	C	G	7396.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12031437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12031437" target="_blank">rs12031437</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.192-69C>G;snpeff.Amino_Acid_length=167;snpeff.Gene_Name=UFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UFC1" target="_blank">UFC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368003;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.48+2117G>C;snpeff.Gene_Name=RP11-297K8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UFC1" target="_blank">UFC1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420498;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192C>G;snpeff.Amino_Acid_length=167;snpeff.Gene_Name=UFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UFC1" target="_blank">UFC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368003;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192C>G;snpeff.Amino_Acid_length=167;snpeff.Gene_Name=UFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UFC1" target="_blank">UFC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368003;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368003;SAVANT_GENE=UFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UFC1" target="_blank">UFC1</a>;SAVANT_INFO=+/5.1kb/6/1.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.192-69C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UFC1+c.192-69C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161126975">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,34:75:99:1007,0,1166:127	0/1:51,48:99:99:1382,0,1623:127	0/1:23,27:50:99:829,0,722:127
1	161130701	.	C	T	13409.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=656;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34779722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34779722" target="_blank">rs34779722</a>;ExAC.Info.AC=2668;ExAC.Info.AN=126702;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2906;ExAC.Info.AC_Hom=46;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro91Ser/c.271C>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=USP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP21" target="_blank">USP21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368002;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368002;SAVANT_GENE=USP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP21" target="_blank">USP21</a>;SAVANT_INFO=+/6.3kb/14/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.271C>T_p.Pro91Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP21+c.271C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161130701">View</a>	GT:AD:DP:GQ:PL:TP	1|0:108,101:209:99:2668,0,2968:127	0|0:248,0:248:99:0,745,8985:127	1|0:94,105:199:99:2756,0,2740:127
1	161136843	.	C	G	8243.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=214;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Porphyria_variegata|_176200_(3);dbSNP139.ID=rs2301287;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2301287" target="_blank">rs2301287</a>;ExAC.Info.AC=47052;ExAC.Info.AN=126702;ExAC.Info.AF=0.371;ExAC.Info.AC_Het=29329;ExAC.Info.AC_Hom=8851;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.88-47C>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=PPOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000352210;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.88C>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=PPOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000352210;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.88C>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=PPOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000352210;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367999;SAVANT_GENE=PPOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;SAVANT_INFO=+/4.8kb/13/1.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.88-47C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPOX+c.88-47C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161136843">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,36:68:99:1136,0,930:127	0/1:36,48:84:99:1532,0,1192:127	0/1:29,33:62:99:1001,0,866:127
1	161140119	.	A	C	6097.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=129;MQ=71.39;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Porphyria_variegata|_176200_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.988-80A>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=PPOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000352210;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367999;SAVANT_GENE=PPOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;SAVANT_INFO=+/4.8kb/13/1.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.988-80A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPOX+c.988-80A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161140119">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,30:53:99:895,0,747:127	0/1:15,27:42:99:969,0,535:127	0/1:13,21:34:99:717,0,438:127
1	161143312	.	T	C	14477.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Porphyria_variegata|_176200_(3);dbSNP139.ID=rs11579514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11579514" target="_blank">rs11579514</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PPOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.803+83A>G;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=B4GALT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=B4GALT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367998;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=B4GALT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367998;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=B4GALT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367998;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=B4GALT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=B4GALT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367998;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=B4GALT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPOX" target="_blank">PPOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367998;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319769;SAVANT_GENE=B4GALT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALT3" target="_blank">B4GALT3</a>;SAVANT_INFO=-/6.2kb/8/1.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.803+83A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALT3+c.803+83A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161143312">View</a>	GT:AD:DP:GQ:PL:TP	0/1:65,66:131:99:1976,0,1830:127	0/1:103,89:192:99:2797,0,2895:127	0/1:60,57:117:99:1593,0,1712:127
1	161163037	.	T	C	2639.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Mitochondrial_complex_I_deficiency|_252010_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4233367;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4233367" target="_blank">rs4233367</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=83584;ExAC.Info.AN=126688;ExAC.Info.AF=0.660;ExAC.Info.AC_Het=27051;ExAC.Info.AC_Hom=27942;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1877T>C;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS4" target="_blank">ADAMTS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1877T>C;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS4" target="_blank">ADAMTS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1877T>C;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS4" target="_blank">ADAMTS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln626Arg/c.1877A>G;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS4" target="_blank">ADAMTS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367996;SAVANT_GENE=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS4" target="_blank">ADAMTS4</a>;SAVANT_INFO=-/9.3kb/9/4.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1877A>G_p.Gln626Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS4+c.1877A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161163037">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,22:37:99:635,0,406:74	0/1:23,21:44:99:562,0,604:74	0/1:25,4:29:74:74,0,771:74
1	161163633	.	C	T	5916.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Mitochondrial_complex_I_deficiency|_252010_(3);dbSNP139.ID=rs3813622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813622" target="_blank">rs3813622</a>;ExAC.Info.AC=81670;ExAC.Info.AN=126460;ExAC.Info.AF=0.646;ExAC.Info.AC_Het=26305;ExAC.Info.AC_Hom=25861;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1549-17G>A;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS4" target="_blank">ADAMTS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Disintegrin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1549C>T;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS4" target="_blank">ADAMTS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Disintegrin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1549C>T;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS4" target="_blank">ADAMTS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367996;SAVANT_GENE=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS4" target="_blank">ADAMTS4</a>;SAVANT_INFO=-/9.3kb/9/4.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1549-17G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS4+c.1549-17G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161163633">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,36:74:99:936,0,1130:127	0/1:51,43:94:99:1190,0,1456:127	0/1:40,24:64:99:613,0,1199:127
1	161168004	.	C	T	5627.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=239;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Mitochondrial_complex_I_deficiency|_252010_(3);dbSNP139.ID=rs33941127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33941127" target="_blank">rs33941127</a>;ExAC.Info.AC=35484;ExAC.Info.AN=126702;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=24390;ExAC.Info.AC_Hom=5515;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NDUFS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414C>T;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414C>T;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser138Ser/c.414G>A;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367996;SAVANT_GENE=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS4" target="_blank">ADAMTS4</a>;SAVANT_INFO=-/9.3kb/9/4.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.414G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS4+c.414G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161168004">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,29:61:99:908,0,879:127	0|0:93,0:93:99:0,279,3149:127	1|0:50,35:85:99:1132,0,1377:127
1	161168189	.	C	T	2896.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Mitochondrial_complex_I_deficiency|_252010_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34448954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34448954" target="_blank">rs34448954</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=9915;ExAC.Info.AN=125716;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=7999;ExAC.Info.AC_Hom=412;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NDUFS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229C>T;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229C>T;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala77Thr/c.229G>A;snpeff.Amino_Acid_length=837;snpeff.Gene_Name=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367996;SAVANT_GENE=ADAMTS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS4" target="_blank">ADAMTS4</a>;SAVANT_INFO=-/9.3kb/9/4.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.229G>A_p.Ala77Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS4+c.229G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161168189">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2246:127	0|1:57,53:110:99:1467,0,1661:127	0|0:103,0:103:99:0,310,3484:127
1	161176137	.	A	G	5410.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Mitochondrial_complex_I_deficiency|_252010_(3);dbSNP139.ID=rs4656993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4656993" target="_blank">rs4656993</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.203-60A>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=NDUFS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367993;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367993;SAVANT_GENE=NDUFS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;SAVANT_INFO=+/15.1kb/15/2.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.203-60A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NDUFS2+c.203-60A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161176137">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,23:45:99:682,0,535:127	0/1:37,20:57:99:666,0,1092:127	0/1:15,24:39:99:832,0,398:127
1	161182208	.	C	G	5322.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=628;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Mitochondrial_complex_I_deficiency|_252010_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs11576415;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11576415" target="_blank">rs11576415</a>;cosmic68.Histology_subtype=acute_lymphoblastic_leukaemia;ExAC.Info.AC=9981;ExAC.Info.AN=126702;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=9025;ExAC.Info.AC_Hom=471;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000117711;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Gct;snpeff.Amino_Acid_Change=p.Pro352Ala/c.1054C>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=NDUFS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367993;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367993;SAVANT_GENE=NDUFS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;SAVANT_INFO=+/15.1kb/15/2.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1054C>G_p.Pro352Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NDUFS2+c.1054C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161182208">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000117711" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:214,0:214:99:0,643,7542:127	0|1:88,92:180:99:2680,0,2536:127	0|0:234,0:234:99:0,703,8123:127
1	161184097	.	A	G	6113.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=350;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Mitochondrial_complex_I_deficiency|_252010_(3);dbSNP139.ID=rs1136224;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1136224" target="_blank">rs1136224</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=114;snpeff.Amino_Acid_Change=c.*114A>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=NDUFS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367993;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367993;SAVANT_GENE=NDUFS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDUFS2" target="_blank">NDUFS2</a>;SAVANT_INFO=+/15.1kb/15/2.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*114A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NDUFS2+c.*114A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161184097">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,55:114:99:1605,0,1672:127	0|0:141,0:141:99:0,423,4828:127	1|0:44,51:95:99:1430,0,1256:127
1	161184875	.	A	G	3458.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11587213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11587213" target="_blank">rs11587213</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11587213" target="_blank">rs11587213</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161184875">View</a>	GT:AD:DP:GQ:PL:TP	0|0:121,0:121:99:0,364,4027:127	0|1:65,60:125:99:1748,0,1892:127	0|0:87,1:88:99:0,255,2983:127
1	161184976	.	G	A	2922.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41270847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270847" target="_blank">rs41270847</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270847" target="_blank">rs41270847</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161184976">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,238,2993:127	0|1:55,45:100:99:1480,0,1784:127	0|0:83,0:83:99:0,250,3175:127
1	161185058	.	G	T	10540.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=485;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2070901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070901" target="_blank">rs2070901</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCER1G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1G" target="_blank">FCER1G</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1G" target="_blank">FCER1G</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCER1G+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161185058">View</a>	GT:AD:DP:GQ:PL:TP	1|0:75,70:145:99:1996,0,2372:127	0|0:196,2:198:99:0,545,7252:127	1|0:62,80:142:99:2413,0,1860:127
1	161188649	.	G	A	3927.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41270849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270849" target="_blank">rs41270849</a>;ExAC.Info.AC=5722;ExAC.Info.AN=126700;ExAC.Info.AF=0.045;ExAC.Info.AC_Het=5342;ExAC.Info.AC_Hom=186;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.198+136G>A;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=FCER1G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1G" target="_blank">FCER1G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367992;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289902;SAVANT_GENE=FCER1G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1G" target="_blank">FCER1G</a>;SAVANT_INFO=+/4.0kb/5/0.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.199-22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCER1G+c.199-22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161188649">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,16:35:99:517,0,581:110	1|0:24,34:58:99:981,0,735:110	0|0:37,0:37:99:0,111,1319:110
1	161188893	.	T	G	6036.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=601;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3557;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3557" target="_blank">rs3557</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.198+380T>G;snpeff.Amino_Acid_length=112;snpeff.Gene_Name=FCER1G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1G" target="_blank">FCER1G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367992;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000289902;SAVANT_GENE=FCER1G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCER1G" target="_blank">FCER1G</a>;SAVANT_INFO=+/4.0kb/5/0.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*160T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCER1G+c.*160T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161188893">View</a>	GT:AD:DP:GQ:PL:TP	0|0:187,0:187:99:0,561,6251:127	0|1:121,103:224:99:3037,0,3416:127	0|0:190,0:190:99:0,571,6562:127
1	161191450	.	CTTTTTTTT	C	1476.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=52;MQ=70.07;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.16-630_16-623delTTTTTTTT;snpeff.Amino_Acid_length=76;snpeff.Gene_Name=AL590714.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL5907141" target="_blank">AL5907141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000594609;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL5907141" target="_blank">AL5907141</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL5907141+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161191450">View</a>	GT:AD:DP:GQ:PL:TP	1|0:6,9:15:99:284,0,336:53	0|0:17,0:17:53:0,53,677:53	1|0:6,14:20:99:407,0,201:53
1	161192316	.	G	A	4820.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=683;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Apolipoprotein_A-II_deficiency_(3)|_{Hypercholesterolemia|_familial|_modification_of}|_143890_(3);dbSNP139.ID=rs6413453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6413453" target="_blank">rs6413453</a>;ExAC.Info.AC=14332;ExAC.Info.AN=126704;ExAC.Info.AF=0.113;ExAC.Info.AC_Het=12538;ExAC.Info.AC_Hom=897;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.285-4C>T;snpeff.Amino_Acid_length=133;snpeff.Gene_Name=APOA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA2" target="_blank">APOA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000464492;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367990;SAVANT_GENE=APOA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOA2" target="_blank">APOA2</a>;SAVANT_INFO=-/1.3kb/4/0.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.186-4C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APOA2+c.186-4C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161192316">View</a>	GT:AD:DP:GQ:PL:TP	0|0:243,0:243:99:0,730,8479:127	0|1:138,90:228:99:2429,0,4005:127	0|0:212,0:212:99:0,636,7317:127
1	161200586	.	T	G	5173.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2307418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2307418" target="_blank">rs2307418</a>;ExAC.Info.AC=16783;ExAC.Info.AN=126704;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=14174;ExAC.Info.AC_Hom=1297;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000081272;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.944+17A>C;snpeff.Amino_Acid_length=357;snpeff.Gene_Name=NR1I3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR1I3" target="_blank">NR1I3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367980;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367980;SAVANT_GENE=NR1I3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR1I3" target="_blank">NR1I3</a>;SAVANT_INFO=-/8.5kb/9/1.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.944+17A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NR1I3+c.944+17A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161200586">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081272" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:40,27:67:99:683,0,1280:127	0|0:103,0:103:99:0,309,3496:127	1|0:42,37:79:99:1121,0,1209:127
1	161202605	.	G	A	17123.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=504;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2307424;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2307424" target="_blank">rs2307424</a>;ExAC.Info.AC=44766;ExAC.Info.AN=126704;ExAC.Info.AF=0.353;ExAC.Info.AC_Het=27730;ExAC.Info.AC_Hom=8515;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro180Pro/c.540C>T;snpeff.Amino_Acid_length=357;snpeff.Gene_Name=NR1I3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR1I3" target="_blank">NR1I3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367980;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367980;SAVANT_GENE=NR1I3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR1I3" target="_blank">NR1I3</a>;SAVANT_INFO=-/8.5kb/9/1.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.540C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NR1I3+c.540C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161202605">View</a>	GT:AD:DP:GQ:PL:TP	0/1:76,66:142:99:1757,0,2080:127	0/1:88,108:196:99:3177,0,2310:127	0/1:81,85:166:99:2416,0,2182:127
1	161204906	.	G	A	26.27	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=14;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3123553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3123553" target="_blank">rs3123553</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.238+731C>T;snpeff.Amino_Acid_length=357;snpeff.Gene_Name=NR1I3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR1I3" target="_blank">NR1I3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367980;SAVANT_GENE=NR1I3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR1I3" target="_blank">NR1I3</a>;SAVANT_INFO=-/8.5kb/9/1.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.238+731C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NR1I3+c.238+731C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161204906">View</a>	GT:AD:DP:GQ:PL:TP	0|0:6,0:6:18:0,18,215:6	0|1:4,2:6:31:31,0,109:6	0|0:2,0:2:6:0,6,84:6
1	161208254	.	AAG	A	288.1	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161208254">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,3:35:2:2,0,1031:3	0|0:49,5:54:7:0,7,1535:3	1|0:39,7:46:99:114,0,1252:3
1	161228800	.	C	T	1822.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4078110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4078110" target="_blank">rs4078110</a>;ExAC.Info.AC=7389;ExAC.Info.AN=46436;ExAC.Info.AF=0.159;ExAC.Info.AC_Het=2289;ExAC.Info.AC_Hom=431;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9+27C>T;snpeff.Amino_Acid_length=68;snpeff.Gene_Name=PCP4L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCP4L1" target="_blank">PCP4L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000504449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000504449;SAVANT_GENE=PCP4L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCP4L1" target="_blank">PCP4L1</a>;SAVANT_INFO=+/26.7kb/3/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.9+27C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCP4L1+c.9+27C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161228800">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,6:15:99:161,0,292:127	0/1:12,5:17:99:147,0,382:127	0/1:9,14:23:99:421,0,245:127
1	161475750	.	G	A	7142.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10494360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10494360" target="_blank">rs10494360</a>;ExAC.Info.AC=13080;ExAC.Info.AN=126704;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=11257;ExAC.Info.AC_Hom=911;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.86-27G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.86G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.86G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271450;SAVANT_GENE=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;SAVANT_INFO=+/14.1kb/7/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.86-27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2A+c.86-27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161475750">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,35:75:99:1010,0,1133:127	1|0:64,56:120:99:1585,0,1802:127	0|0:65,0:65:99:0,195,2252:127
1	161476204	.	C	T	4585.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=68.03;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=A;dbSNP139.ID=rs9427397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9427397" target="_blank">rs9427397</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.OMIM_ID=146790;hgmd_2014.2.PubMed=24176758;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24176758" target="_blank">24176758</a>;ExAC.Info.AC=13092;ExAC.Info.AN=126704;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=11281;ExAC.Info.AC_Hom=904;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cag/Tag;snpeff.Amino_Acid_Change=p.Gln63*/c.187C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;LOF=(FCGR2A|ENSG00000143226|1|1.00);NMD=(FCGR2A|ENSG00000143226|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000271450;SAVANT_GENE=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;SAVANT_INFO=+/14.1kb/7/2.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.187C>T_p.Gln63X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2A+c.187C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161476204">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,35:54:99:975,0,686:127	1|0:52,29:81:99:790,0,2064:127	0|0:66,0:66:99:0,199,2959:127
1	161476205	.	A	G	6719.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=68.02;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9427398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9427398" target="_blank">rs9427398</a>;ExAC.Info.AC=13639;ExAC.Info.AN=126704;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=11748;ExAC.Info.AC_Hom=943;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.188A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.188A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.188A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.188A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.188A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.188A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.188A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln63Arg/c.188A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271450;SAVANT_GENE=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;SAVANT_INFO=+/14.1kb/7/2.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.188A>G_p.Gln63Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2A+c.188A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161476205">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,35:54:99:1397,0,686:127	1|0:51,30:81:99:1103,0,2061:127	0|0:66,0:66:99:0,199,2959:127
1	161479599	.	G	A	3264.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7529425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7529425" target="_blank">rs7529425</a>;ExAC.Info.AC=13403;ExAC.Info.AN=126694;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=11535;ExAC.Info.AC_Hom=931;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.365-11G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271450;SAVANT_GENE=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;SAVANT_INFO=+/14.1kb/7/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.365-11G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2A+c.365-11G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161479599">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,18:39:99:539,0,699:89	1|0:23,27:50:99:851,0,791:89	0|0:41,1:42:89:0,89,1541:89
1	161479745	.	A	G	15349.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=464;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1801274;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801274" target="_blank">rs1801274</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Lupus_nephritis|_protection_against|_association;hgmd_2014.2.OMIM_ID=146790;hgmd_2014.2.PubMed=8636449;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=8636449" target="_blank">8636449</a>;ExAC.Info.AC=60602;ExAC.Info.AN=126704;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=30964;ExAC.Info.AC_Hom=14816;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000015946|RCV000015947|RCV000054529;Clinvar.PhenotypeIDs=|MedGen:C1970029;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His167Arg/c.500A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271450;SAVANT_GENE=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;SAVANT_INFO=+/14.1kb/7/2.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.500A>G_p.His167Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2A+c.500A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161479745">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015946%20OR%20RCV000015947%20OR%20RCV000054529" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	1|0:82,60:142:99:1474,0,2251:127	0|0:172,0:172:99:0,517,5842:127	1|1:1,149:150:99:5042,412,0:127
1	161480649	.	A	G	27126.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11810143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11810143" target="_blank">rs11810143</a>;ExAC.Info.AC=12999;ExAC.Info.AN=126704;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=11176;ExAC.Info.AC_Hom=911;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.645A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.645A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.645A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.645A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro215Pro/c.645A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271450;SAVANT_GENE=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;SAVANT_INFO=+/14.1kb/7/2.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.645A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2A+c.645A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161480649">View</a>	GT:AD:DP:GQ:PL:TP	0|1:241,238:479:99:6453,0,6233:127	1|0:198,223:421:99:6624,0,5690:127	0|0:455,0:455:99:0,1367,15346:127
1	161483656	.	C	T	1632.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=406;MQ=66.31;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56157533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56157533" target="_blank">rs56157533</a>;ExAC.Info.AC=11293;ExAC.Info.AN=126694;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=11254;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.71-29C>T;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.743-29C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271450;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271450;SAVANT_GENE=FCGR2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2A" target="_blank">FCGR2A</a>;SAVANT_INFO=+/14.1kb/7/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.743-29C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2A+c.743-29C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161483656">View</a>	GT:AD:DP:GQ:PL:TP	0|1:117,17:134:99:152,0,3799:127	1|0:135,28:163:99:383,0,4409:127	0|0:109,0:109:99:0,327,3830:127
1	161495477	.	A	T	23109.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=356;MQ=65.70;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs72633678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72633678" target="_blank">rs72633678</a>;ExAC.Info.AC=81249;ExAC.Info.AN=126688;ExAC.Info.AF=0.641;ExAC.Info.AC_Het=30670;ExAC.Info.AC_Hom=24933;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271+7550A>T;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029A>T;snpeff.Amino_Acid_length=643;snpeff.Gene_Name=HSPA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309758;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1029A>T;snpeff.Amino_Acid_length=643;snpeff.Gene_Name=HSPA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309758;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acT;snpeff.Amino_Acid_Change=p.Thr343Thr/c.1029A>T;snpeff.Amino_Acid_length=643;snpeff.Gene_Name=HSPA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309758;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309758;SAVANT_GENE=HSPA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA6" target="_blank">HSPA6</a>;SAVANT_INFO=+/2.6kb/1/2.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1029A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPA6+c.1029A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161495477">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:3614,333,0:127	1|0:80,71:151:99:2067,0,2263:127	1|1:0,94:94:99:3397,282,0:127
1	161495885	.	T	C	20918.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=284;MQ=68.86;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs404508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=404508" target="_blank">rs404508</a>;ExAC.Info.AC=97560;ExAC.Info.AN=126696;ExAC.Info.AF=0.770;ExAC.Info.AC_Het=22300;ExAC.Info.AC_Hom=37591;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271+7958T>C;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr479Thr/c.1437T>C;snpeff.Amino_Acid_length=643;snpeff.Gene_Name=HSPA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309758;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309758;SAVANT_GENE=HSPA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA6" target="_blank">HSPA6</a>;SAVANT_INFO=+/2.6kb/1/2.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1437T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPA6+c.1437T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161495885">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:3181,273,0:127	1|0:43,61:104:99:1848,0,1210:127	1|1:0,89:89:99:3297,268,0:127
1	161514542	.	A	C	5231.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=227;MQ=65.35;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs396991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=396991" target="_blank">rs396991</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Wegeners_granulomatosis_relapse|_association_with;hgmd_2014.2.OMIM_ID=146740;hgmd_2014.2.PubMed=10513795;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10513795" target="_blank">10513795</a>;ExAC.Info.AC=41803;ExAC.Info.AN=126696;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=27698;ExAC.Info.AC_Hom=6795;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271+26615A>C;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttt/Gtt;snpeff.Amino_Acid_Change=p.Phe212Val/c.634T>G;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367969;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367969;SAVANT_GENE=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;SAVANT_INFO=-/8.3kb/5/2.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.634T>G_p.Phe212Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR3A+c.634T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161514542">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,31:71:99:937,0,1072:127	1|0:43,35:78:99:1015,0,1318:127	0|0:78,0:78:99:0,235,2800:127
1	161518172	.	C	T	3330.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=133;MQ=43.50;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs147342954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147342954" target="_blank">rs147342954</a>;ExAC.Info.AC=32766;ExAC.Info.AN=126634;ExAC.Info.AF=0.259;ExAC.Info.AC_Het=31476;ExAC.Info.AC_Hom=329;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.427+39G>A;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367969;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271+30245C>T;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367969;SAVANT_GENE=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;SAVANT_INFO=-/8.3kb/5/2.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.427+39G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR3A+c.427+39G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161518172">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,18:35:99:561,0,534:90	0|0:59,0:59:99:0,178,2152:90	1|0:6,33:39:91:1064,0,91:90
1	161518214	.	T	C	1322.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=284;MQ=50.27;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs148181339;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148181339" target="_blank">rs148181339</a>;ExAC.Info.AC=37700;ExAC.Info.AN=126692;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=37394;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271+30287T>C;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile142Val/c.424A>G;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367969;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367969;SAVANT_GENE=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;SAVANT_INFO=-/8.3kb/5/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.424A>G_p.Ile142Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR3A+c.424A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161518214">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,238,2685:127	0|1:88,32:120:99:680,0,2623:127	0|0:86,0:86:99:0,259,3090:127
1	161518333	.	A	T	9945.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=591;MQ=61.60;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10127939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10127939" target="_blank">rs10127939</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Recurrent_respiratory_tract_infection|_association;hgmd_2014.2.OMIM_ID=146740;hgmd_2014.2.PubMed=8874200;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=8874200" target="_blank">8874200</a>;ExAC.Info.AC=6913;ExAC.Info.AN=126704;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=12479;ExAC.Info.AC_Hom=6;Clinvar.ClinicalSignificance=Pathogenic;Clinvar.RCVaccession=RCV000015953;Clinvar.PhenotypeIDs=MedGen:CN185376|OMIM:615707;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271+30406A>T;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTc/cAc;snpeff.Amino_Acid_Change=p.Leu102His/c.305T>A;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367969;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367969;SAVANT_GENE=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;SAVANT_INFO=-/8.3kb/5/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.305T>A_p.Leu102His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR3A+c.305T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161518333">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015953" target="_blank">Pathogenic</a> 	GT:AD:DP:GQ:PL:TP	0|1:105,87:192:99:2353,0,2765:127	1|0:140,72:212:99:1769,0,4450:127	0|0:187,0:187:99:0,562,6392:127
1	161518336	.	C	T	1698.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=586;MQ=61.76;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77144485;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77144485" target="_blank">rs77144485</a>;ExAC.Info.AC=12514;ExAC.Info.AN=126704;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=12158;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271+30409C>T;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser101Asn/c.302G>A;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K216" target="_blank">RP11-25K216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367969;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367969;SAVANT_GENE=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;SAVANT_INFO=-/8.3kb/5/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.302G>A_p.Ser101Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR3A+c.302G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161518336">View</a>	GT:AD:DP:GQ:PL:TP	0|0:186,0:186:99:0,568,7338:127	0|1:169,43:212:99:868,0,5865:127	0|0:188,0:188:99:0,565,6627:127
1	161559327	.	A	G	7408.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=89;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Thrombocytopenic_purpura|_autoimmune|_188030_(1);dbSNP139.ID=rs3933769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3933769" target="_blank">rs3933769</a>;ExAC.Info.AC=89957;ExAC.Info.AN=122818;ExAC.Info.AF=0.732;ExAC.Info.AC_Het=17941;ExAC.Info.AC_Hom=35267;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+1095A>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.272-11703A>G;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161559327">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1135,99,0:56	1|1:0,19:19:57:634,57,0:56	1|1:0,37:37:99:1354,111,0:56
1	161563281	.	A	AG	1072.99	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=41;MQ=62.91;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenic_purpura|_autoimmune|_188030_(1);dbSNP139.ID=rs149146947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149146947" target="_blank">rs149146947</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+5050_133+5051insG;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.272-7748_272-7747insG;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161563281">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,5:13:99:139,0,247:33	1|0:12,5:17:99:127,0,377:33	0|0:11,0:11:33:0,33,392:33
1	161565314	.	C	T	473.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=192;MQ=59.74;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenic_purpura|_autoimmune|_188030_(1);dbSNP139.ID=rs79316700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79316700" target="_blank">rs79316700</a>;ExAC.Info.AC=11417;ExAC.Info.AN=126328;ExAC.Info.AF=0.090;ExAC.Info.AC_Het=9209;ExAC.Info.AC_Hom=878;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+7082C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.272-5716C>T;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161565314">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,12:60:99:321,0,1664:81	1|0:50,4:54:2:2,0,1778:81	0|0:78,0:78:99:0,235,3025:81
1	161565324	.	C	T	20579.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=248;MQ=60.36;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Thrombocytopenic_purpura|_autoimmune|_188030_(1);dbSNP139.ID=rs61801822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61801822" target="_blank">rs61801822</a>;ExAC.Info.AC=93504;ExAC.Info.AN=126314;ExAC.Info.AF=0.740;ExAC.Info.AC_Het=22371;ExAC.Info.AC_Hom=35220;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+7092C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.272-5706C>T;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161565324">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2558,202,0:127	1|1:0,69:69:99:2674,208,0:127	1|1:0,112:112:99:4302,337,0:127
1	161565381	.	A	G	5871.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=577;MQ=65.45;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenic_purpura|_autoimmune|_188030_(1);dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76277413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76277413" target="_blank">rs76277413</a>;ExAC.Info.AC=13315;ExAC.Info.AN=126414;ExAC.Info.AF=0.105;ExAC.Info.AC_Het=10540;ExAC.Info.AC_Hom=1273;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+7149A>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.272-5649A>G;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met13Val/c.37A>G;snpeff.Amino_Acid_length=58;snpeff.Gene_Name=FCGR2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543859;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000543859;SAVANT_GENE=FCGR2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;SAVANT_INFO=+/4.7kb/2/0.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.37A>G_p.Met13Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2C+c.37A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161565381">View</a>	GT:AD:DP:GQ:PL:TP	0|1:104,47:151:99:1163,0,2739:127	1|0:128,55:183:99:1408,0,3542:127	0|0:241,2:243:99:0,680,7442:127
1	161565479	.	G	A	4522.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=403;MQ=66.61;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Thrombocytopenic_purpura|_autoimmune|_188030_(1);dbSNP139.ID=rs111504845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111504845" target="_blank">rs111504845</a>;ExAC.Info.AC=49907;ExAC.Info.AN=126286;ExAC.Info.AF=0.395;ExAC.Info.AC_Het=27841;ExAC.Info.AC_Hom=10823;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+7247G>A;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.272-5551G>A;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu45Leu/c.135G>A;snpeff.Amino_Acid_length=58;snpeff.Gene_Name=FCGR2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543859;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000543859;SAVANT_GENE=FCGR2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;SAVANT_INFO=+/4.7kb/2/0.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.135G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2C+c.135G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161565479">View</a>	GT:AD:DP:GQ:PL:TP	0|0:119,0:119:99:0,358,4496:127	0|1:64,73:137:99:2280,0,1946:127	0|0:147,0:147:99:0,442,5473:127
1	161569419	.	C	G	5747.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=430;MQ=59.60;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Thrombocytopenic_purpura|_autoimmune|_188030_(1);dbSNP139.ID=rs430178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=430178" target="_blank">rs430178</a>;ExAC.Info.AC=66068;ExAC.Info.AN=113366;ExAC.Info.AF=0.583;ExAC.Info.AC_Het=6458;ExAC.Info.AC_Hom=8119;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*242-548C>G;snpeff.Amino_Acid_length=58;snpeff.Gene_Name=FCGR2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543859;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+11187C>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.272-1611C>G;snpeff.Gene_Name=RP11-25K21.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000537821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543859;SAVANT_GENE=FCGR2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2C" target="_blank">FCGR2C</a>;SAVANT_INFO=+/4.7kb/2/0.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*3898C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2C+c.*3898C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161569419">View</a>	GT:AD:DP:GQ:PL:TP	0|1:112,22:134:99:363,0,3644:127	1|1:0,63:63:99:2176,189,0:127	0|0:233,0:233:99:0,699,8065:127
1	161576227	.	C	G	5702.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=67;MQ=29.95;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs145679054;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145679054" target="_blank">rs145679054</a>;ExAC.Info.AC=74116;ExAC.Info.AN=113690;ExAC.Info.AF=0.652;ExAC.Info.AC_Het=12788;ExAC.Info.AC_Hom=11978;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.147C>G;snpeff.Gene_Name=HSPA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445535;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+17995C>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPA7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161576227">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:686,60,0:56	1|1:0,28:28:84:963,84,0:56	1|1:0,19:19:57:654,57,0:56
1	161577657	.	G	A	11845.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=187;MQ=65.09;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs61802306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61802306" target="_blank">rs61802306</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1577G>A;snpeff.Gene_Name=HSPA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445535;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+19425G>A;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPA7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161577657">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1912,165,0:127	1|0:43,32:75:99:946,0,1303:127	1|1:0,57:57:99:2220,172,0:127
1	161577669	.	G	A	14112.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=179;MQ=63.75;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs61802307;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61802307" target="_blank">rs61802307</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1589G>A;snpeff.Gene_Name=HSPA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445535;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+19437G>A;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPA7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161577669">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1758,156,0:127	1|1:0,74:74:99:2603,223,0:127	1|1:0,53:53:99:1946,159,0:127
1	161577828	.	C	G	1655.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=201;MQ=64.66;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1748C>G;snpeff.Gene_Name=HSPA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445535;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+19596C>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA7" target="_blank">HSPA7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPA7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161577828">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2583:127	0|0:65,0:65:99:0,195,2400:127	0|1:33,27:60:99:847,0,1040:127
1	161599571	.	T	C	142.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=113;MQ=39.83;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Neutropenia|_alloimmune_neonatal_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199890941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199890941" target="_blank">rs199890941</a>;ExAC.Info.AC=43525;ExAC.Info.AN=125586;ExAC.Info.AF=0.347;ExAC.Info.AC_Het=24090;ExAC.Info.AC_Hom=6090;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+41339T>C;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile142Val/c.424A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=FCGR3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531221;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294800;SAVANT_GENE=FCGR3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3B" target="_blank">FCGR3B</a>;SAVANT_INFO=-/8.2kb/5/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.316A>G_p.Ile106Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR3B+c.316A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161599571">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1410:89	0|1:23,5:28:90:90,0,719:89	0|0:42,0:42:99:0,126,1354:89
1	161599693	.	T	C	18232.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=242;MQ=43.34;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Neutropenia|_alloimmune_neonatal_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76714703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76714703" target="_blank">rs76714703</a>;ExAC.Info.AC=74189;ExAC.Info.AN=126192;ExAC.Info.AF=0.588;ExAC.Info.AC_Het=29367;ExAC.Info.AC_Hom=21919;Clinvar.ClinicalSignificance=Pathogenic;Clinvar.RCVaccession=RCV000030607;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FCGR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133+41461T>C;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn101Ser/c.302A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=FCGR3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3A" target="_blank">FCGR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531221;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294800;SAVANT_GENE=FCGR3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3B" target="_blank">FCGR3B</a>;SAVANT_INFO=-/8.2kb/5/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.194A>G_p.Asn65Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR3B+c.194A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161599693">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030607" target="_blank">Pathogenic</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:3151,262,0:127	1|0:15,51:66:99:1606,0,263:127	1|1:0,89:89:99:3024,267,0:127
1	161600995	.	C	T	2686.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Neutropenia|_alloimmune_neonatal_(3);dbSNP139.ID=rs34085961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34085961" target="_blank">rs34085961</a>;ExAC.Info.AC=49517;ExAC.Info.AN=126132;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=28985;ExAC.Info.AC_Hom=8354;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.134-40187C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2B" target="_blank">FCGR2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3;snpeff.Amino_Acid_Change=c.-3G>A;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=FCGR3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2B" target="_blank">FCGR2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531221;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294800;SAVANT_GENE=FCGR3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR3B" target="_blank">FCGR3B</a>;SAVANT_INFO=-/8.2kb/5/2.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-111G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR3B+c.-111G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161600995">View</a>	GT:AD:DP:GQ:PL:TP	0|0:116,0:116:99:0,348,3941:127	0|1:63,56:119:99:1362,0,1878:127	0|0:133,0:133:99:0,399,4438:127
1	161643044	.	A	G	386.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=281;MQ=63.85;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs74870676;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74870676" target="_blank">rs74870676</a>;ExAC.Info.AC=23113;ExAC.Info.AN=118142;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=5695;ExAC.Info.AC_Hom=1448;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.646+25A>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2B" target="_blank">FCGR2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.198-971T>C;snpeff.Gene_Name=RP11-25K21.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2B" target="_blank">FCGR2B</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453111;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358671;SAVANT_GENE=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2B" target="_blank">FCGR2B</a>;SAVANT_INFO=+/15.5kb/8/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.646+25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2B+c.646+25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161643044">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,361,4298:127	0|1:85,16:101:99:212,0,2797:127	0|0:60,0:60:99:0,180,2150:127
1	161643269	.	C	T	6340.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=168;MQ=49.78;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2045571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2045571" target="_blank">rs2045571</a>;ExAC.Info.AC=15521;ExAC.Info.AN=121362;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=10939;ExAC.Info.AC_Hom=622;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.646+250C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2B" target="_blank">FCGR2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.197+1149G>A;snpeff.Gene_Name=RP11-25K21.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2B" target="_blank">FCGR2B</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453111;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358671;SAVANT_GENE=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2B" target="_blank">FCGR2B</a>;SAVANT_INFO=+/15.5kb/8/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.646+250C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2B+c.646+250C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161643269">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,31:55:99:843,0,635:60	0|1:54,16:70:99:373,0,1600:60	1|1:2,41:43:60:1263,60,0:60
1	161643798	.	T	C	733.46	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=17;MQ=49.84;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1050501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1050501" target="_blank">rs1050501</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Altered_receptor_signalling;hgmd_2014.2.OMIM_ID=604590;hgmd_2014.2.PubMed=14613290;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=14613290" target="_blank">14613290</a>;ExAC.Info.AC=6841;ExAC.Info.AN=61730;ExAC.Info.AF=0.111;ExAC.Info.AC_Het=1378;ExAC.Info.AC_Hom=201;Clinvar.ClinicalSignificance=Pathogenic|risk_factor;Clinvar.RCVaccession=RCV000005800|RCV000005801;Clinvar.PhenotypeIDs=|MedGen:C2720293;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.197+620A>G;snpeff.Gene_Name=RP11-25K21.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K211" target="_blank">RP11-25K211</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453111;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile232Thr/c.695T>C;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-25K211" target="_blank">RP11-25K211</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358671;SAVANT_GENE=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2B" target="_blank">FCGR2B</a>;SAVANT_INFO=+/15.5kb/8/2.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.695T>C_p.Ile232Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2B+c.695T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161643798">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005800%20OR%20RCV000005801" target="_blank">Pathogenic|risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0/1:1,6:7:14:224,0,14:13	0/1:1,3:4:23:92,0,23:13	0/1:2,4:6:51:146,0,51:13
1	161647533	.	A	G	41967.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=544;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs844;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=844" target="_blank">rs844</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=190;snpeff.Amino_Acid_Change=c.*190A>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2B" target="_blank">FCGR2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358671;SAVANT_GENE=FCGR2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCGR2B" target="_blank">FCGR2B</a>;SAVANT_INFO=+/15.5kb/8/2.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*190A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCGR2B+c.*190A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161647533">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,183:183:99:6157,550,0:127	1|1:0,219:219:99:7588,657,0:127	1|1:0,142:142:99:4918,427,0:127
1	161676970	.	A	G	4637.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=65;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1340978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1340978" target="_blank">rs1340978</a>;ExAC.Info.AC=80347;ExAC.Info.AN=126698;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=28140;ExAC.Info.AC_Hom=26022;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=34;snpeff.Amino_Acid_Change=c.-34A>G;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=FCRLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLA" target="_blank">FCRLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367959;SAVANT_GENE=FCRLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLA" target="_blank">FCRLA</a>;SAVANT_INFO=+/7.4kb/6/2.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-34A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRLA+c.-34A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161676970">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:739,60,0:58	1|0:14,10:24:99:312,0,446:58	1|1:0,21:21:63:772,63,0:58
1	161680258	.	G	A	7085.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6427618;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427618" target="_blank">rs6427618</a>;ExAC.Info.AC=14745;ExAC.Info.AN=30988;ExAC.Info.AF=0.476;ExAC.Info.AC_Het=4451;ExAC.Info.AC_Hom=3645;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.131-7G>A;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=FCRLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLA" target="_blank">FCRLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.131G>A;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=FCRLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLA" target="_blank">FCRLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367959;SAVANT_GENE=FCRLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLA" target="_blank">FCRLA</a>;SAVANT_INFO=+/7.4kb/6/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.131-7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRLA+c.131-7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161680258">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,40:80:99:1137,0,1064:127	1|0:45,59:104:99:1638,0,1183:127	0|0:94,0:94:99:0,283,3284:127
1	161681661	.	C	G	4489.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1105238;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1105238" target="_blank">rs1105238</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.569-63C>G;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=FCRLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLA" target="_blank">FCRLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367959;SAVANT_GENE=FCRLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLA" target="_blank">FCRLA</a>;SAVANT_INFO=+/7.4kb/6/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.569-63C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRLA+c.569-63C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161681661">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,25:48:99:643,0,601:95	0|0:50,0:50:99:0,150,1794:95	1|1:0,32:32:96:1183,96,0:95
1	161681780	.	A	G	6059.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275603;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275603" target="_blank">rs2275603</a>;ExAC.Info.AC=39607;ExAC.Info.AN=126698;ExAC.Info.AF=0.313;ExAC.Info.AC_Het=23824;ExAC.Info.AC_Hom=7875;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser209Gly/c.625A>G;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=FCRLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLA" target="_blank">FCRLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367959;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367959;SAVANT_GENE=FCRLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLA" target="_blank">FCRLA</a>;SAVANT_INFO=+/7.4kb/6/2.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.625A>G_p.Ser209Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRLA+c.625A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161681780">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,23:63:99:564,0,1160:127	0|0:82,0:82:99:0,246,2886:127	1|1:0,49:49:99:1794,147,0:127
1	161683136	.	G	A	6110.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11746" target="_blank">rs11746</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=53065;ExAC.Info.AN=126702;ExAC.Info.AF=0.419;ExAC.Info.AC_Het=28656;ExAC.Info.AC_Hom=12169;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg372Gln/c.1115G>A;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=FCRLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLA" target="_blank">FCRLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367959;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367959;SAVANT_GENE=FCRLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLA" target="_blank">FCRLA</a>;SAVANT_INFO=+/7.4kb/6/2.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1115G>A_p.Arg372Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRLA+c.1115G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161683136">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,38:85:99:1106,0,1327:127	1|0:59,42:101:99:1175,0,1592:127	0|0:90,0:90:99:0,270,2952:127
1	161695639	.	G	T	16359.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7520519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7520519" target="_blank">rs7520519</a>;ExAC.Info.AC=112057;ExAC.Info.AN=126696;ExAC.Info.AF=0.884;ExAC.Info.AC_Het=12417;ExAC.Info.AC_Hom=49688;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.336G>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392158;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.336G>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392158;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcT;snpeff.Amino_Acid_Change=p.Ala112Ala/c.336G>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392158;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367948;SAVANT_GENE=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;SAVANT_INFO=+/6.6kb/8/2.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.336G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRLB+c.336G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161695639">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2678,237,0:127	1|0:47,43:90:99:1221,0,1326:127	1|1:0,70:70:99:2352,209,0:127
1	161696088	.	T	C	26788.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1417582;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1417582" target="_blank">rs1417582</a>;ExAC.Info.AC=30969;ExAC.Info.AN=60586;ExAC.Info.AF=0.511;ExAC.Info.AC_Het=3662;ExAC.Info.AC_Hom=2937;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.574+211T>C;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392158;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367948;SAVANT_GENE=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;SAVANT_INFO=+/6.6kb/8/2.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.574+211T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRLB+c.574+211T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161696088">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,128:128:99:4514,384,0:127	1|0:76,56:132:99:1685,0,2226:127	1|1:0,117:117:99:4128,351,0:127
1	161696782	.	G	C	1747.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=61;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11585450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11585450" target="_blank">rs11585450</a>;ExAC.Info.AC=49191;ExAC.Info.AN=120828;ExAC.Info.AF=0.407;ExAC.Info.AC_Het=20545;ExAC.Info.AC_Hom=8727;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro288Pro/c.864G>C;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392158;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.864G>C;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392158;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367948;SAVANT_GENE=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;SAVANT_INFO=+/6.6kb/8/2.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.864G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRLB+c.864G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161696782">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,8:16:99:194,0,219:51	1|0:17,11:28:99:307,0,554:51	0|0:17,0:17:51:0,51,572:51
1	161697072	.	G	C	5248.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72704099;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72704099" target="_blank">rs72704099</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=19072;ExAC.Info.AN=126624;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=12752;ExAC.Info.AC_Hom=2944;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Cct;snpeff.Amino_Acid_Change=p.Ala301Pro/c.901G>C;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392158;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367948;SAVANT_GENE=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;SAVANT_INFO=+/6.6kb/8/2.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.901G>C_p.Ala301Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRLB+c.901G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161697072">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,27:44:99:848,0,519:110	0|0:57,1:58:99:0,133,2257:110	1|1:0,37:37:99:1493,111,0:110
1	161697149	.	G	T	13397.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16858529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16858529" target="_blank">rs16858529</a>;ExAC.Info.AC=6718;ExAC.Info.AN=126598;ExAC.Info.AF=0.053;ExAC.Info.AC_Het=4978;ExAC.Info.AC_Hom=799;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccT;snpeff.Amino_Acid_Change=p.Pro326Pro/c.978G>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392158;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367948;SAVANT_GENE=FCRLB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCRLB" target="_blank">FCRLB</a>;SAVANT_INFO=+/6.6kb/8/2.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.978G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCRLB+c.978G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161697149">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,65:99:99:2077,0,937:127	0|0:122,1:123:99:0,328,4209:127	1|1:0,100:100:99:3654,300,0:127
1	161721403	.	T	TG	3600.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=103;MQ=70.16;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs200382520;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200382520" target="_blank">rs200382520</a>;ExAC.Info.AC=4535;ExAC.Info.AN=58860;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=4365;ExAC.Info.AC_Hom=62;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.345-54_345-53insG;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=DUSP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP12" target="_blank">DUSP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367943;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.345_346insG;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=DUSP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP12" target="_blank">DUSP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367943;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.345_346insG;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=DUSP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP12" target="_blank">DUSP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367943;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.345_346insG;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=DUSP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP12" target="_blank">DUSP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367943;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Phosphocysteine_intermediate];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.345_346insG;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=DUSP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP12" target="_blank">DUSP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367943;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site:Phosphocysteine_intermediate];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.345_346insG;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=DUSP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP12" target="_blank">DUSP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367943;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367943;SAVANT_GENE=DUSP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP12" target="_blank">DUSP12</a>;SAVANT_INFO=+/7.4kb/6/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.345-55_345-54insG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP12+c.345-55_345-54insG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161721403">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,10:26:99:259,0,542:65	0|0:42,0:42:99:0,126,1521:65	1|1:1,34:35:66:1216,66,0:65
1	161722272	.	C	A	3694.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10917852;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10917852" target="_blank">rs10917852</a>;ExAC.Info.AC=40922;ExAC.Info.AN=126678;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=25512;ExAC.Info.AC_Hom=7681;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.674+18C>A;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=DUSP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP12" target="_blank">DUSP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367943;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367943;SAVANT_GENE=DUSP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP12" target="_blank">DUSP12</a>;SAVANT_INFO=+/7.4kb/6/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.674+18C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP12+c.674+18C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161722272">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,33:51:99:871,0,482:127	1|0:30,30:60:99:887,0,890:127	0|0:59,0:59:99:0,177,2207:127
1	161736035	.	A	G	29623.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=465;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2298019;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298019" target="_blank">rs2298019</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298019" target="_blank">rs2298019</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161736035">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,142:142:99:4789,426,0:127	1|0:95,94:189:99:2533,0,2667:127	1|1:0,134:134:99:4449,402,0:127
1	161751741	.	A	G	10381.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1058405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1058405" target="_blank">rs1058405</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Fasting_plasma_glucose_level;hgmd_2014.2.OMIM_ID=605537;hgmd_2014.2.PubMed=17440018;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17440018" target="_blank">17440018</a>;ExAC.Info.AC=29885;ExAC.Info.AN=126700;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=22005;ExAC.Info.AC_Hom=3915;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Transcription_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Transcription_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Transcription_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Transcription_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Transcription_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met67Val/c.199A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367942;SAVANT_GENE=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;SAVANT_INFO=+/197.8kb/16/7.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.199A>G_p.Met67Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATF6+c.199A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161751741">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,39:96:99:913,0,1437:127	0|0:106,0:106:99:0,318,3437:127	1|1:0,106:106:99:3621,318,0:127
1	161822959	.	C	T	7242.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2340717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2340717" target="_blank">rs2340717</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1434-55C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434C>T;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367942;SAVANT_GENE=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;SAVANT_INFO=+/197.8kb/16/7.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1434-55C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATF6+c.1434-55C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161822959">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1334,114,0:113	1|0:26,32:58:99:1011,0,829:113	1|1:0,47:47:99:1726,141,0:113
1	161823011	.	T	A	22129.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2257107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2257107" target="_blank">rs2257107</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=70323;ExAC.Info.AN=126158;ExAC.Info.AF=0.557;ExAC.Info.AC_Het=24413;ExAC.Info.AC_Hom=20134;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1434-3T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1434T>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367942;SAVANT_GENE=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;SAVANT_INFO=+/197.8kb/16/7.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1434-3T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATF6+c.1434-3T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161823011">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4281,373,0:127	1|0:74,94:168:99:2811,0,2146:127	1|1:0,131:131:99:4749,394,0:127
1	161823197	.	G	GT	30263.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=451;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3215134;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215134" target="_blank">rs3215134</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1533+85_1533+86insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534_1535insT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367942;SAVANT_GENE=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;SAVANT_INFO=+/197.8kb/16/7.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1533+86dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATF6+c.1533+86dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161823197">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,135:135:99:4757,406,0:127	1|0:80,91:171:99:2614,0,2331:127	1|1:0,145:145:99:5118,436,0:127
1	161829973	.	CT	C	419.08	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=476;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1534-23delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_THBS4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1534delT;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367942;SAVANT_GENE=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;SAVANT_INFO=+/197.8kb/16/7.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1534-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATF6+c.1534-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161829973">View</a>	GT:AD:DP:GQ:PL:TP	1|0:149,28:177:99:188,0,3266:60	0|0:155,18:173:61:0,61,3507:60	1|0:111,15:126:20:20,0,2425:60
1	161882189	.	G	A	7102.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72708088;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72708088" target="_blank">rs72708088</a>;ExAC.Info.AC=2061;ExAC.Info.AN=126666;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=1971;ExAC.Info.AC_Hom=29;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1804+19G>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1805G>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1805G>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1805G>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1805G>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1805G>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1805G>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1805G>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367942;SAVANT_GENE=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;SAVANT_INFO=+/197.8kb/16/7.5kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1804+19G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATF6+c.1804+19G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161882189">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,41:97:99:1128,0,1690:127	1|0:58,60:118:99:1790,0,1913:127	0|0:102,0:102:99:0,307,3859:127
1	161928327	.	A	G	22472.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs9482;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9482" target="_blank">rs9482</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=83149;ExAC.Info.AN=126702;ExAC.Info.AF=0.656;ExAC.Info.AC_Het=25948;ExAC.Info.AC_Hom=28563;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1896A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1896A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1896A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1896A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1896A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1896A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1896A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser632Ser/c.1896A>G;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367942;SAVANT_GENE=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;SAVANT_INFO=+/197.8kb/16/7.5kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1896A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATF6+c.1896A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161928327">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:3870,334,0:127	1|0:64,62:126:99:1821,0,1840:127	1|1:0,95:95:99:3335,285,0:127
1	161928568	.	G	A	38531.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=692;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs13401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13401" target="_blank">rs13401</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=124;snpeff.Amino_Acid_Change=c.*124G>A;snpeff.Amino_Acid_length=670;snpeff.Gene_Name=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367942;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367942;SAVANT_GENE=ATF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATF6" target="_blank">ATF6</a>;SAVANT_INFO=+/197.8kb/16/7.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*124G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATF6+c.*124G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161928568">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,209:209:99:6514,628,0:127	1|0:133,110:243:99:2954,0,3823:127	1|1:0,240:240:99:7800,720,0:127
1	161967681	.	A	G	11493.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2499836;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2499836" target="_blank">rs2499836</a>;ExAC.Info.AC=83223;ExAC.Info.AN=126700;ExAC.Info.AF=0.657;ExAC.Info.AC_Het=28221;ExAC.Info.AC_Hom=27487;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp471Arg/c.1411T>C;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=OLFML2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML2B" target="_blank">OLFML2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367940;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294794;SAVANT_GENE=OLFML2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML2B" target="_blank">OLFML2B</a>;SAVANT_INFO=-/40.7kb/8/3.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1408T>C_p.Trp470Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLFML2B+c.1408T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161967681">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,69:116:99:1753,0,1130:127	0/1:58,74:132:99:2055,0,1611:127	0/1:48,42:90:99:1130,0,1242:127
1	161976172	.	T	C	2996.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34095099;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34095099" target="_blank">rs34095099</a>;ExAC.Info.AC=650;ExAC.Info.AN=126704;ExAC.Info.AF=5.130e-03;ExAC.Info.AC_Het=641;ExAC.Info.AC_Hom=4;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn213Ser/c.638A>G;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=OLFML2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML2B" target="_blank">OLFML2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367940;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294794;SAVANT_GENE=OLFML2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML2B" target="_blank">OLFML2B</a>;SAVANT_INFO=-/40.7kb/8/3.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.638A>G_p.Asn213Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLFML2B+c.638A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161976172">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2628:127	0|1:72,51:123:99:1517,0,2108:127	0|0:96,0:96:99:0,288,3259:127
1	161976234	.	A	G	29451.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12022536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12022536" target="_blank">rs12022536</a>;ExAC.Info.AC=92795;ExAC.Info.AN=126700;ExAC.Info.AF=0.732;ExAC.Info.AC_Het=22384;ExAC.Info.AC_Hom=35081;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn192Asn/c.576T>C;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=OLFML2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML2B" target="_blank">OLFML2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367940;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294794;SAVANT_GENE=OLFML2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML2B" target="_blank">OLFML2B</a>;SAVANT_INFO=-/40.7kb/8/3.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.576T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLFML2B+c.576T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161976234">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:3709,327,0:127	1|1:0,130:130:99:4615,391,0:127	1|1:0,113:113:99:3869,340,0:127
1	161976272	.	G	GA	15527.5	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs34863451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34863451" target="_blank">rs34863451</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.547-9_547-10insT;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=OLFML2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML2B" target="_blank">OLFML2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367940;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000294794;SAVANT_GENE=OLFML2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLFML2B" target="_blank">OLFML2B</a>;SAVANT_INFO=-/40.7kb/8/3.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.547-10dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLFML2B+c.547-10dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:161976272">View</a>	GT:AD:DP:GQ:PL:TP	1|1:5,94:99:99:2461,123,0:54	1|1:11,104:115:55:2583,55,0:54	1|0:12,76:88:72:1761,0,72:54
1	162030654	.	C	T	5560.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1003;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10918593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10918593" target="_blank">rs10918593</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10918593" target="_blank">rs10918593</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162030654">View</a>	GT:AD:DP:GQ:PL:TP	0|0:332,0:332:99:0,995,10481:127	0|0:421,0:421:99:0,1264,13927:127	0|1:145,105:250:99:2799,0,4005:127
1	162030688	.	C	G	5942.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=949;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10918594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10918594" target="_blank">rs10918594</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10918594" target="_blank">rs10918594</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162030688">View</a>	GT:AD:DP:GQ:PL:TP	0|0:307,0:307:99:0,922,10975:127	0|0:404,0:404:99:0,1213,14332:127	0|1:136,102:238:99:2990,0,4123:127
1	162085685	.	G	T	44676.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=745;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10494366;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10494366" target="_blank">rs10494366</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Cardiac_repolarisation|_association_with;hgmd_2014.2.OMIM_ID=605551;hgmd_2014.2.PubMed=16648850;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16648850" target="_blank">16648850</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.106-38510G>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106G>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106G>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106G>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106G>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106G>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106G>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361897;SAVANT_GENE=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;SAVANT_INFO=+/300.7kb/10/4.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.106-38510G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOS1AP+c.106-38510G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162085685">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,238:238:99:7419,714,0:127	1|1:0,261:261:99:8874,784,0:127	1|0:135,111:246:99:2918,0,3993:127
1	162244026	.	G	C	12908.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=413;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6427667;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427667" target="_blank">rs6427667</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.178-13108G>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.178G>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.178G>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.178G>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.178G>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.178G>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.178G>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361897;SAVANT_GENE=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;SAVANT_INFO=+/300.7kb/10/4.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.178-13108G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOS1AP+c.178-13108G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162244026">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,61:114:99:1742,0,1607:127	0/1:93,72:165:99:2098,0,2690:127	0/1:70,64:134:99:1822,0,2197:127
1	162313597	.	T	C	38568.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs347278;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=347278" target="_blank">rs347278</a>;ExAC.Info.AC=122417;ExAC.Info.AN=126704;ExAC.Info.AF=0.966;ExAC.Info.AC_Het=3756;ExAC.Info.AC_Hom=59325;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.454-28T>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454T>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454T>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454T>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454T>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454T>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454T>C;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361897;SAVANT_GENE=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;SAVANT_INFO=+/300.7kb/10/4.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.454-28T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOS1AP+c.454-28T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162313597">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,162:162:99:5798,487,0:127	1|1:0,156:156:99:5582,469,0:127	1|1:0,138:138:99:4976,415,0:127
1	162313735	.	C	T	16656.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3751284;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3751284" target="_blank">rs3751284</a>;ExAC.Info.AC=51744;ExAC.Info.AN=126702;ExAC.Info.AF=0.408;ExAC.Info.AC_Het=29543;ExAC.Info.AC_Hom=11070;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser188Ser/c.564C>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphoserine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361897;SAVANT_GENE=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;SAVANT_INFO=+/300.7kb/10/4.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.564C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOS1AP+c.564C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162313735">View</a>	GT:AD:DP:GQ:PL:TP	0|1:91,66:157:99:1814,0,2610:127	1|1:0,148:148:99:5251,444,0:127	0|0:140,0:140:99:0,420,4919:127
1	162335052	.	C	T	23420.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=486;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs905721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=905721" target="_blank">rs905721</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.940-142C>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361897;SAVANT_GENE=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;SAVANT_INFO=+/300.7kb/10/4.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.940-142C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOS1AP+c.940-142C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162335052">View</a>	GT:AD:DP:GQ:PL:TP	0|1:87,93:180:99:2563,0,2781:127	1|1:0,181:181:99:6542,544,0:127	0|1:67,58:125:99:1746,0,2028:127
1	162335256	.	C	T	10754.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=497;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs348624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=348624" target="_blank">rs348624</a>;ExAC.Info.AC=21691;ExAC.Info.AN=126704;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=16759;ExAC.Info.AC_Hom=2455;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002C>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg20Arg/c.60C>T;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=RP11-565P22.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431696;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg334Arg/c.1002C>T;snpeff.Amino_Acid_length=506;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361897;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431696:ENST00000361897;SAVANT_GENE=RP11-565P22.6:NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-565P226:NOS1AP" target="_blank">RP11-565P226:NOS1AP</a>;SAVANT_INFO=+/16.7kb/3/0.5kb:+/300.7kb/10/4.9kb;SAVANT_LOC=Ex1:Ex9;SAVANT_HGVS=c.60C>T_p.=:c.1002C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-565P226:NOS1AP+c.60C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162335256">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,77:148:99:2266,0,2124:127	0|0:189,0:189:99:0,567,6341:127	1|0:95,65:160:99:1901,0,2928:127
1	162344102	.	C	T	11381.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2282397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282397" target="_blank">rs2282397</a>;ExAC.Info.AC=46705;ExAC.Info.AN=126704;ExAC.Info.AF=0.369;ExAC.Info.AC_Het=28773;ExAC.Info.AC_Hom=8961;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf226;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.316+7108C>T;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=RP11-565P22.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431696;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg174Arg/c.522G>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=C1orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367935;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431696:ENST00000367935;SAVANT_GENE=RP11-565P22.6:C1orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-565P226:C1orf111" target="_blank">RP11-565P226:C1orf111</a>;SAVANT_INFO=+/16.7kb/3/0.5kb:-/3.1kb/3/1.2kb;SAVANT_LOC=In2/3:Ex3;SAVANT_HGVS=c.316+7108C>T:c.522G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-565P226:C1orf111+c.316+7108C>T:c.522G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162344102">View</a>	GT:AD:DP:GQ:PL:TP	0/1:50,66:116:99:1730,0,1516:127	0/1:88,60:148:99:1544,0,2598:127	0/1:45,62:107:99:1741,0,1370:127
1	162344390	.	A	G	18054.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs164159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=164159" target="_blank">rs164159</a>;ExAC.Info.AC=126536;ExAC.Info.AN=126674;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=133;ExAC.Info.AC_Hom=62606;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf226;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.317-7291A>G;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=RP11-565P22.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431696;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp78Asp/c.234T>C;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=C1orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367935;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431696:ENST00000367935;SAVANT_GENE=RP11-565P22.6:C1orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-565P226:C1orf111" target="_blank">RP11-565P226:C1orf111</a>;SAVANT_INFO=+/16.7kb/3/0.5kb:-/3.1kb/3/1.2kb;SAVANT_LOC=In2/3:Ex3;SAVANT_HGVS=c.317-7291A>G:c.234T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-565P226:C1orf111+c.317-7291A>G:c.234T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162344390">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:2043,165,0:127	1|1:0,93:93:99:3509,280,0:127	1|1:0,58:58:99:2223,174,0:127
1	162345091	.	G	A	6867.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs164181;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=164181" target="_blank">rs164181</a>;ExAC.Info.AC=124060;ExAC.Info.AN=126704;ExAC.Info.AF=0.979;ExAC.Info.AC_Het=2218;ExAC.Info.AC_Hom=60921;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf226;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.317-6590G>A;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=RP11-565P22.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431696;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala69Val/c.206C>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=C1orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367935;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431696:ENST00000367935;SAVANT_GENE=RP11-565P22.6:C1orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-565P226:C1orf111" target="_blank">RP11-565P226:C1orf111</a>;SAVANT_INFO=+/16.7kb/3/0.5kb:-/3.1kb/3/1.2kb;SAVANT_LOC=In2/3:Ex2;SAVANT_HGVS=c.317-6590G>A:c.206C>T_p.Ala69Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-565P226:C1orf111+c.317-6590G>A:c.206C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162345091">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1031,87,0:53	1|1:0,28:28:84:1028,84,0:53	1|1:0,18:18:54:673,54,0:53
1	162345294	.	G	T	3090.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3737312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737312" target="_blank">rs3737312</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf226;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.104-101C>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=C1orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367935;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.317-6387G>T;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=RP11-565P22.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431696;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000431696:ENST00000367935;SAVANT_GENE=RP11-565P22.6:C1orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-565P226:C1orf111" target="_blank">RP11-565P226:C1orf111</a>;SAVANT_INFO=+/16.7kb/3/0.5kb:-/3.1kb/3/1.2kb;SAVANT_LOC=In2/3:In1/2;SAVANT_HGVS=c.317-6387G>T:c.104-101C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-565P226:C1orf111+c.317-6387G>T:c.104-101C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162345294">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,10:26:99:259,0,557:109	0/1:23,21:44:99:645,0,760:109	0/1:4,14:18:99:423,0,110:109
1	162346433	.	CA	C	7474.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=274;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs150155141;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150155141" target="_blank">rs150155141</a>;ExAC.Info.AC=41555;ExAC.Info.AN=126458;ExAC.Info.AF=0.329;ExAC.Info.AC_Het=23902;ExAC.Info.AC_Hom=6706;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf226;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.103+44delT;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=C1orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367935;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.317-5247delA;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=RP11-565P22.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431696;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=Deletion;SAVANT_ENST=ENST00000431696:ENST00000367935;SAVANT_GENE=RP11-565P22.6:C1orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-565P226:C1orf111" target="_blank">RP11-565P226:C1orf111</a>;SAVANT_INFO=+/16.7kb/3/0.5kb:-/3.1kb/3/1.2kb;SAVANT_LOC=In2/3:In1/2;SAVANT_HGVS=c.317-5240delA:c.103+44delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-565P226:C1orf111+c.317-5240delA:c.103+44delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162346433">View</a>	GT:AD:DP:GQ:PL:TP	0/1:40,29:69:99:652,0,998:127	0/1:59,53:112:99:1237,0,1448:127	0/1:48,45:93:99:1055,0,1183:127
1	162352941	.	G	A	5592.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11806859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11806859" target="_blank">rs11806859</a>;ExAC.Info.AC=31062;ExAC.Info.AN=123778;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=21122;ExAC.Info.AC_Hom=3911;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NOS1AP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.447-31G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=C1orf226;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP" target="_blank">NOS1AP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426197;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426197;SAVANT_GENE=C1orf226;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf226" target="_blank">C1orf226</a>;SAVANT_INFO=+/4.9kb/3/1.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.447-31G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf226+c.447-31G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162352941">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2392:127	0|1:37,64:101:99:1835,0,1032:127	0|1:30,33:63:99:981,0,914:127
1	162367071	.	C	T	29694.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=604;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs17852003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17852003" target="_blank">rs17852003</a>;ExAC.Info.AC=38191;ExAC.Info.AN=126704;ExAC.Info.AF=0.301;ExAC.Info.AC_Het=26102;ExAC.Info.AC_Hom=6032;snpeff.Effect=stop_retained_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tGa/tAa;snpeff.Amino_Acid_Change=p.Ter133Ter/c.398G>A;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=SH2D1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D1B" target="_blank">SH2D1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367929;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367929;SAVANT_GENE=SH2D1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D1B" target="_blank">SH2D1B</a>;SAVANT_INFO=-/16.9kb/4/2.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.398G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH2D1B+c.398G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162367071">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,180:180:99:5644,541,0:127	1|0:114,113:227:99:3111,0,3423:127	1|0:120,77:197:99:2012,0,3598:127
1	162560360	.	TTC	TTCTCTC	1756.96	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=155;MQ=69.97;MQ0=0;culprit=DP;NA12878i_GT=0/0;NA12892_GT=0/1;NA12891_GT=0/0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1358+62_1358+63insTCTC;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=UAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UAP1" target="_blank">UAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367925;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367926;SAVANT_GENE=UAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UAP1" target="_blank">UAP1</a>;SAVANT_INFO=+/38.3kb/10/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1358+77_1358+80dupCTCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=UAP1+c.1358+77_1358+80dupCTCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162560360">View</a>	GT:AD:DP:GQ:PL	0/0:43,0:47:9:0,142,2056	0/0:63,0:67:81:0,202,3040	0/1:19,20:41:99:704,0,820
1	162722846	.	C	G	40081.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=515;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spondylometaepiphyseal_dysplasia|_short_limb-hand_type|_271665_(3);dbSNP139.ID=rs1632311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1632311" target="_blank">rs1632311</a>;ExAC.Info.AC=125748;ExAC.Info.AN=126696;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=861;ExAC.Info.AC_Hom=62294;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.83-39C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367922;SAVANT_GENE=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;SAVANT_INFO=+/148.0kb/19/3.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.83-39C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDR2+c.83-39C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162722846">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,151:151:99:5121,454,0:127	1|1:1,173:174:99:6237,496,0:127	1|1:0,190:190:99:6599,570,0:127
1	162740029	.	A	G	7710.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=691;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Spondylometaepiphyseal_dysplasia|_short_limb-hand_type|_271665_(3);dbSNP139.ID=rs72711592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72711592" target="_blank">rs72711592</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1294-63A>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1294A>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1294A>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1294A>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1294A>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1294A>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1294A>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1294A>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1294A>G;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367922;SAVANT_GENE=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;SAVANT_INFO=+/148.0kb/19/3.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1294-63A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDR2+c.1294-63A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162740029">View</a>	GT:AD:DP:GQ:PL:TP	0|0:211,0:211:99:0,634,7026:127	0|1:150,133:283:99:3874,0,4288:127	0|0:197,0:197:99:0,592,6963:127
1	162740327	.	T	C	36247.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spondylometaepiphyseal_dysplasia|_short_limb-hand_type|_271665_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1780003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1780003" target="_blank">rs1780003</a>;ExAC.Info.AC=124827;ExAC.Info.AN=126678;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1543;ExAC.Info.AC_Hom=61296;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1504+25T>C;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1505T>C;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1505T>C;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1505T>C;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1505T>C;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1505T>C;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1505T>C;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1505T>C;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1505T>C;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367922;SAVANT_GENE=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;SAVANT_INFO=+/148.0kb/19/3.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1504+25T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDR2+c.1504+25T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162740327">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4709,397,0:127	1|1:0,163:163:99:5795,489,0:127	1|1:0,149:149:99:5361,448,0:127
1	162743418	.	G	T	14235.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spondylometaepiphyseal_dysplasia|_short_limb-hand_type|_271665_(3);dbSNP139.ID=rs1355287;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1355287" target="_blank">rs1355287</a>;ExAC.Info.AC=126524;ExAC.Info.AN=126702;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=175;ExAC.Info.AC_Hom=63121;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1856+32G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1857G>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367922;SAVANT_GENE=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;SAVANT_INFO=+/148.0kb/19/3.2kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1856+32G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDR2+c.1856+32G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162743418">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1863,153,0:127	1|1:0,53:53:99:1919,159,0:127	1|1:0,69:69:99:2482,207,0:127
1	162750208	.	C	T	17862.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spondylometaepiphyseal_dysplasia|_short_limb-hand_type|_271665_(3);dbSNP139.ID=rs1972086;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1972086" target="_blank">rs1972086</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=172;snpeff.Amino_Acid_Change=c.*172C>T;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367922;SAVANT_GENE=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;SAVANT_INFO=+/148.0kb/19/3.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*172C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDR2+c.*172C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162750208">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2987,223,0:127	1|1:0,85:85:99:3622,264,0:127	1|1:1,62:63:99:2493,168,0:127
1	162750210	.	CTT	C	17069.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spondylometaepiphyseal_dysplasia|_short_limb-hand_type|_271665_(3);dbSNP139.ID=rs5778295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5778295" target="_blank">rs5778295</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=downstream_gene_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=175;snpeff.Amino_Acid_Change=c.*175_*176delTT;snpeff.Amino_Acid_length=855;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367921;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367922;SAVANT_GENE=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;SAVANT_INFO=+/148.0kb/19/3.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*187_*188delTT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDR2+c.*187_*188delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162750210">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2904,222,0:127	1|1:0,88:88:99:3406,264,0:127	1|1:0,59:59:99:2409,168,0:127
1	162754244	.	T	G	4730.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=53;MQ=65.16;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs61812969;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61812969" target="_blank">rs61812969</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2" target="_blank">DDR2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDR2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162754244">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,18:18:54:732,54,0:38	1|1:0,22:22:66:883,66,0:38	1|1:0,13:13:39:530,39,0:38
1	162760551	.	C	T	15810.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=129;MQ=64.81;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1704754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1704754" target="_blank">rs1704754</a>;ExAC.Info.AC=86361;ExAC.Info.AN=124932;ExAC.Info.AF=0.691;ExAC.Info.AC_Het=14223;ExAC.Info.AC_Hom=20743;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=40;snpeff.Amino_Acid_Change=c.-40C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254521;SAVANT_GENE=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;SAVANT_INFO=+/21.8kb/9/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-40C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B7+c.-40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162760551">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:2126,147,0:127	1|1:0,43:43:99:2060,144,0:127	1|1:0,39:39:99:1876,132,0:127
1	162760554	.	T	C	16146.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=145;MQ=64.44;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs71519246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71519246" target="_blank">rs71519246</a>;ExAC.Info.AC=121142;ExAC.Info.AN=123994;ExAC.Info.AF=0.977;ExAC.Info.AC_Het=1324;ExAC.Info.AC_Hom=40350;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=37;snpeff.Amino_Acid_Change=c.-37T>C;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254521;SAVANT_GENE=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;SAVANT_INFO=+/21.8kb/9/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-37T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B7+c.-37T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162760554">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:2163,150,0:127	1|1:0,50:50:99:2109,150,0:127	1|1:0,45:45:99:1921,135,0:127
1	162765475	.	G	C	18973.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=243;MQ=45.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2684884;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2684884" target="_blank">rs2684884</a>;ExAC.Info.AC=29936;ExAC.Info.AN=32176;ExAC.Info.AF=0.930;ExAC.Info.AC_Het=109;ExAC.Info.AC_Hom=6052;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.240-900G>C;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>C;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>C;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>C;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>C;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>C;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>C;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254521;SAVANT_GENE=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;SAVANT_INFO=+/21.8kb/9/1.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.240-900G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B7+c.240-900G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162765475">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2856,247,0:127	1|1:0,99:99:99:3430,298,0:127	1|1:0,62:62:99:2077,186,0:127
1	162766476	.	C	T	53577.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=696;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1780019;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1780019" target="_blank">rs1780019</a>;ExAC.Info.AC=88736;ExAC.Info.AN=126686;ExAC.Info.AF=0.700;ExAC.Info.AC_Het=23113;ExAC.Info.AC_Hom=32789;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.332+9C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254521;SAVANT_GENE=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;SAVANT_INFO=+/21.8kb/9/1.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.332+9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B7+c.332+9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162766476">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,233:233:99:7868,700,0:127	1|1:0,244:244:99:8421,733,0:127	1|1:0,219:219:99:7498,658,0:127
1	162775267	.	C	T	12305.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=284;MQ=57.05;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs12563263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12563263" target="_blank">rs12563263</a>;ExAC.Info.AC=34561;ExAC.Info.AN=126662;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=24209;ExAC.Info.AC_Hom=5131;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr296Tyr/c.888C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254521;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254521;SAVANT_GENE=HSD17B7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7" target="_blank">HSD17B7</a>;SAVANT_INFO=+/21.8kb/9/1.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.888C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B7+c.888C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:162775267">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,40:94:99:965,0,1470:127	1|1:0,109:109:99:3555,327,0:127	0|1:43,38:81:99:1124,0,1283:127
1	163033691	.	C	T	15191.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=686;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs951439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=951439" target="_blank">rs951439</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=951439" target="_blank">rs951439</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:163033691">View</a>	GT:AD:DP:GQ:PL:TP	0|1:115,105:220:99:2741,0,3049:127	1|0:127,134:261:99:3696,0,3521:127	0|0:204,1:205:99:0,576,7012:127
1	163038684	.	C	A	1278.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12402634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12402634" target="_blank">rs12402634</a>;ExAC.Info.AC=7252;ExAC.Info.AN=124924;ExAC.Info.AF=0.058;ExAC.Info.AC_Het=5455;ExAC.Info.AC_Hom=186;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=41;snpeff.Amino_Acid_Change=c.-41C>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=RGS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS4" target="_blank">RGS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421743;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421743;SAVANT_GENE=RGS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS4" target="_blank">RGS4</a>;SAVANT_INFO=+/8.0kb/6/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-41C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS4+c.-41C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:163038684">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2351:127	0|1:23,21:44:99:658,0,684:127	0|0:71,0:71:99:0,214,2740:127
1	163039777	.	T	C	6671.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2661319;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2661319" target="_blank">rs2661319</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.335+459T>C;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=RGS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS4" target="_blank">RGS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421743;SAVANT_GENE=RGS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS4" target="_blank">RGS4</a>;SAVANT_INFO=+/8.0kb/6/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.335+459T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS4+c.335+459T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:163039777">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,67:132:99:1856,0,1690:127	0|0:182,0:182:99:0,547,6147:127	1|0:89,42:131:99:1150,0,2564:127
1	163039812	.	C	T	4354.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=401;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10917672;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10917672" target="_blank">rs10917672</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.335+494C>T;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=RGS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS4" target="_blank">RGS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421743;SAVANT_GENE=RGS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS4" target="_blank">RGS4</a>;SAVANT_INFO=+/8.0kb/6/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.335+494C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS4+c.335+494C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:163039812">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,1:119:99:0,324,4688:127	0|1:80,78:158:99:2196,0,2550:127	0|0:124,0:124:99:0,376,4741:127
1	163039827	.	C	A	5359.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2661317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2661317" target="_blank">rs2661317</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.335+509C>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=RGS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS4" target="_blank">RGS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421743;SAVANT_GENE=RGS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS4" target="_blank">RGS4</a>;SAVANT_INFO=+/8.0kb/6/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.335+509C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS4+c.335+509C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:163039827">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,45:103:99:1224,0,1843:127	0|0:145,0:145:99:0,442,5920:127	1|0:69,40:109:99:1044,0,2263:127
1	163040495	.	G	T	12843.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=442;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2842030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2842030" target="_blank">rs2842030</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.335+1177G>T;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=RGS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS4" target="_blank">RGS4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421743;SAVANT_GENE=RGS4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS4" target="_blank">RGS4</a>;SAVANT_INFO=+/8.0kb/6/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.335+1177G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS4+c.335+1177G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:163040495">View</a>	GT:AD:DP:GQ:PL:TP	0/1:84,79:163:99:2006,0,2459:127	0/1:75,79:154:99:2160,0,2284:127	0/1:61,64:125:99:1811,0,1825:127
1	163289571	.	C	T	24687.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=432;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2136241;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2136241" target="_blank">rs2136241</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RGS5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.132-490G>A;snpeff.Gene_Name=RP11-267N12.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439699;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUF2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:163289571">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,127:127:99:3928,381,0:127	1|0:83,87:170:99:2366,0,2326:127	1|1:0,135:135:99:4489,406,0:127
1	163309219	.	A	T	6333.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=736;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1509022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1509022" target="_blank">rs1509022</a>;ExAC.Info.AC=55715;ExAC.Info.AN=126700;ExAC.Info.AF=0.440;ExAC.Info.AC_Het=30305;ExAC.Info.AC_Hom=12678;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_the_N-terminus_of_NDC80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggT;snpeff.Amino_Acid_Change=p.Gly186Gly/c.558A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367900;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271452;SAVANT_GENE=NUF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUF2" target="_blank">NUF2</a>;SAVANT_INFO=+/33.8kb/14/2.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.558A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUF2+c.558A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:163309219">View</a>	GT:AD:DP:GQ:PL:TP	0|0:202,0:202:99:0,607,6283:127	0|0:291,0:291:99:0,873,9274:127	0|1:118,125:243:99:3186,0,2957:127
1	164528870	.	T	C	5554.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Leukemia|_acute_pre-B-cell_(2)|Leukemia|_acute_pre-B-cell_(2);dbSNP139.ID=rs12033962;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12033962" target="_blank">rs12033962</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PBX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBX1" target="_blank">PBX1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBX1" target="_blank">PBX1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PBX1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:164528870">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:992,81,0:53	1|1:0,25:25:73:933,73,0:53	1|1:0,18:18:54:706,54,0:53
1	164529284	.	GTTTT	G	3143.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Leukemia|_acute_pre-B-cell_(2)|Leukemia|_acute_pre-B-cell_(2);dbSNP139.ID=rs141669515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141669515" target="_blank">rs141669515</a>;ExAC.Info.AC=2443;ExAC.Info.AN=41808;ExAC.Info.AF=0.058;ExAC.Info.AC_Het=1365;ExAC.Info.AC_Hom=131;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.191+35_191+38delTTTT;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=PBX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBX1" target="_blank">PBX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000420696;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000420696;SAVANT_GENE=PBX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBX1" target="_blank">PBX1</a>;SAVANT_INFO=+/292.2kb/9/6.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.191+37_191+40delTTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PBX1+c.191+37_191+40delTTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:164529284">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,279,4743:127	0|1:46,42:88:99:1595,0,2116:127	0|0:85,0:85:99:0,255,4172:127
1	164789444	.	A	G	50410.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=664;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Leukemia|_acute_pre-B-cell_(2)|Leukemia|_acute_pre-B-cell_(2);dbSNP139.ID=rs1538488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1538488" target="_blank">rs1538488</a>;ExAC.Info.AC=126641;ExAC.Info.AN=126674;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=30;ExAC.Info.AC_Hom=63192;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1110+23A>G;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=PBX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBX1" target="_blank">PBX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000420696;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000420696;SAVANT_GENE=PBX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBX1" target="_blank">PBX1</a>;SAVANT_INFO=+/292.2kb/9/6.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1110+23A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PBX1+c.1110+23A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:164789444">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,217:217:99:7360,651,0:127	1|1:0,244:244:99:8327,733,0:127	1|1:0,203:203:99:7056,610,0:127
1	165173216	.	A	G	14928.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1354509;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1354509" target="_blank">rs1354509</a>;ExAC.Info.AC=126662;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=42;ExAC.Info.AC_Hom=63306;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp350Asp/c.1050T>C;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=LMX1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMX1A" target="_blank">LMX1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367893;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342310;SAVANT_GENE=LMX1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMX1A" target="_blank">LMX1A</a>;SAVANT_INFO=-/154.8kb/9/3.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1050T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMX1A+c.1050T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165173216">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1613,132,0:111	1|1:0,70:70:99:2422,210,0:111	1|1:1,45:46:99:1561,112,0:111
1	165180089	.	T	A	2531.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1532815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1532815" target="_blank">rs1532815</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.226T>A;snpeff.Gene_Name=RP11-38C18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38C182" target="_blank">RP11-38C182</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000457106;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.670-76A>T;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=LMX1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38C182" target="_blank">RP11-38C182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367893;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.670T>A;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=LMX1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38C182" target="_blank">RP11-38C182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367893;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.670T>A;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=LMX1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38C182" target="_blank">RP11-38C182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367893;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.670T>A;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=LMX1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38C182" target="_blank">RP11-38C182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367893;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342310;SAVANT_GENE=LMX1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMX1A" target="_blank">LMX1A</a>;SAVANT_INFO=-/154.8kb/9/3.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.670-76A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMX1A+c.670-76A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165180089">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,16:24:99:451,0,241:127	0/1:13,13:26:99:393,0,399:127	0/1:9,11:20:99:343,0,280:127
1	165218679	.	C	T	10155.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs9970062;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9970062" target="_blank">rs9970062</a>;ExAC.Info.AC=31112;ExAC.Info.AN=126704;ExAC.Info.AF=0.246;ExAC.Info.AC_Het=22687;ExAC.Info.AC_Hom=4202;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.462C>T;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=LMX1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMX1A" target="_blank">LMX1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu154Leu/c.462G>A;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=LMX1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMX1A" target="_blank">LMX1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342310;SAVANT_GENE=LMX1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMX1A" target="_blank">LMX1A</a>;SAVANT_INFO=-/154.8kb/9/3.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.462G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMX1A+c.462G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165218679">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,38:87:99:1004,0,1520:127	1|1:0,73:73:99:2508,219,0:127	0|1:37,33:70:99:922,0,1269:127
1	165370475	.	G	C	3344.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10918169;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10918169" target="_blank">rs10918169</a>;ExAC.Info.AC=19525;ExAC.Info.AN=126680;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=15532;ExAC.Info.AC_Hom=1968;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=25;snpeff.Amino_Acid_Change=c.*25C>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359842;SAVANT_GENE=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;SAVANT_INFO=-/44.3kb/10/2.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*25C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RXRG+c.*25C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165370475">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,22:38:99:693,0,439:127	0/1:22,14:36:99:480,0,739:127	0/1:14,10:24:99:317,0,449:127
1	165376043	.	T	C	3706.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs283696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=283696" target="_blank">rs283696</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes|_type_2|_susceptibility_to|_association;hgmd_2014.2.OMIM_ID=180247;hgmd_2014.2.PubMed=12175776;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12175776" target="_blank">12175776</a>;ExAC.Info.AC=105119;ExAC.Info.AN=126702;ExAC.Info.AF=0.830;ExAC.Info.AC_Het=17316;ExAC.Info.AC_Hom=43878;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1244+6A>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245A>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359842;SAVANT_GENE=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;SAVANT_INFO=-/44.3kb/10/2.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1244+6A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RXRG+c.1244+6A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165376043">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,17:31:99:558,0,367:127	0/1:17,19:36:99:615,0,489:127	0/1:19,20:39:99:558,0,525:127
1	165377552	.	G	A	16694.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2134095;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2134095" target="_blank">rs2134095</a>;ExAC.Info.AC=77397;ExAC.Info.AN=126704;ExAC.Info.AF=0.611;ExAC.Info.AC_Het=28395;ExAC.Info.AC_Hom=24493;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val350Val/c.1050C>T;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359842;SAVANT_GENE=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;SAVANT_INFO=-/44.3kb/10/2.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1050C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RXRG+c.1050C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165377552">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,78:146:99:2004,0,1966:127	0|1:75,89:164:99:2168,0,2014:127	1|1:0,114:114:99:3586,342,0:127
1	165378992	.	C	T	3651.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10918172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10918172" target="_blank">rs10918172</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes|_type_2|_susceptibility_to|_association;hgmd_2014.2.OMIM_ID=180247;hgmd_2014.2.PubMed=12175776;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12175776" target="_blank">12175776</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.914-65G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.914C>T;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.914C>T;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.914C>T;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.914C>T;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.914C>T;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.914C>T;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.914C>T;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.914C>T;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359842;SAVANT_GENE=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;SAVANT_INFO=-/44.3kb/10/2.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.914-65G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RXRG+c.914-65G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165378992">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,18:33:99:528,0,390:127	0/1:15,21:36:99:605,0,476:127	0/1:33,22:55:99:581,0,958:127
1	165389129	.	G	A	640.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1128977;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1128977" target="_blank">rs1128977</a>;ExAC.Info.AC=43084;ExAC.Info.AN=126696;ExAC.Info.AF=0.340;ExAC.Info.AC_Het=26718;ExAC.Info.AC_Hom=8157;snpeff.Effect=sequence_feature[zinc_finger_region:NR_C4-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:NR_C4-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Nuclear_receptor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Nuclear_receptor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Nuclear_receptor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420G>A;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala140Ala/c.420C>T;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359842;SAVANT_GENE=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;SAVANT_INFO=-/44.3kb/10/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.420C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RXRG+c.420C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165389129">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1452:104	0|0:40,0:40:99:0,120,1644:104	0|1:15,11:26:99:339,0,523:104
1	165389285	.	C	G	16592.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=277;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs157870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=157870" target="_blank">rs157870</a>;ExAC.Info.AC=44077;ExAC.Info.AN=126490;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=26294;ExAC.Info.AC_Hom=8221;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.298-34G>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Modulating];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298C>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Modulating];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298C>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Modulating];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298C>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359842;SAVANT_GENE=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;SAVANT_INFO=-/44.3kb/10/2.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.298-34G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RXRG+c.298-34G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165389285">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3074,270,0:127	1|1:0,100:100:99:3338,300,0:127	1|0:51,36:87:99:925,0,1464:127
1	165398115	.	T	C	6452.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs113471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113471" target="_blank">rs113471</a>;ExAC.Info.AC=21749;ExAC.Info.AN=126700;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=17427;ExAC.Info.AC_Hom=2119;snpeff.Effect=sequence_feature[region_of_interest:Modulating];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Modulating];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Modulating];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.138T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr46Thr/c.138A>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359842;SAVANT_GENE=RXRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RXRG" target="_blank">RXRG</a>;SAVANT_INFO=-/44.3kb/10/2.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.138A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RXRG+c.138A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165398115">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,51:86:99:1304,0,1021:127	1|0:50,51:101:99:1350,0,1467:127	0|0:71,1:72:99:0,206,2550:127
1	165532746	.	T	A	648.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17407838;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17407838" target="_blank">rs17407838</a>;ExAC.Info.AC=9144;ExAC.Info.AN=126686;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=8227;ExAC.Info.AC_Hom=415;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.932+10509A>T;snpeff.Gene_Name=RP11-280O1.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.627T>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294818;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.627T>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LRRCT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.627T>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294818;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LRRCT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.627T>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.627T>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294818;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.627T>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaA;snpeff.Amino_Acid_Change=p.Asp209Glu/c.627T>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294818;SAVANT_GENE=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC52" target="_blank">LRRC52</a>;SAVANT_INFO=+/20.0kb/2/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.627T>A_p.Asp209Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC52+c.627T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165532746">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1551:127	0|0:69,0:69:99:0,207,2427:127	0|1:22,13:35:99:343,0,727:127
1	165533005	.	C	A	3078.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs453717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=453717" target="_blank">rs453717</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37023;ExAC.Info.AN=126700;ExAC.Info.AF=0.292;ExAC.Info.AC_Het=25989;ExAC.Info.AC_Hom=5514;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.932+10250G>T;snpeff.Gene_Name=RP11-280O1.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.886C>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cgg/Agg;snpeff.Amino_Acid_Change=p.Arg296Arg/c.886C>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294818;SAVANT_GENE=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC52" target="_blank">LRRC52</a>;SAVANT_INFO=+/20.0kb/2/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.886C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC52+c.886C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165533005">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,280,3231:127	0|1:58,53:111:99:1558,0,1722:127	0|0:96,0:96:99:0,289,3325:127
1	165533075	.	C	T	2102.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6676948;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6676948" target="_blank">rs6676948</a>;ExAC.Info.AC=9170;ExAC.Info.AN=126686;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=8240;ExAC.Info.AC_Hom=433;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.932+10180G>A;snpeff.Gene_Name=RP11-280O1.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=14;snpeff.Amino_Acid_Change=c.*14C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-280O12" target="_blank">RP11-280O12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294818;SAVANT_GENE=LRRC52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC52" target="_blank">LRRC52</a>;SAVANT_INFO=+/20.0kb/2/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*14C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC52+c.*14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165533075">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,227,2538:127	0|0:79,0:79:99:0,237,2943:127	0|1:40,39:79:99:1070,0,1185:127
1	165601365	.	T	C	3240.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4147596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4147596" target="_blank">rs4147596</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-9-103T>C;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367885;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367889;SAVANT_GENE=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;SAVANT_INFO=+/24.8kb/6/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-17720T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MGST3+c.-17720T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165601365">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,18:31:99:569,0,291:127	0|0:51,0:51:99:0,153,1581:127	1|0:25,17:42:99:550,0,688:127
1	165601466	.	G	A	6298.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9333378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9333378" target="_blank">rs9333378</a>;ExAC.Info.AC=79389;ExAC.Info.AN=119168;ExAC.Info.AF=0.666;ExAC.Info.AC_Het=23819;ExAC.Info.AC_Hom=27531;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-9-2G>A;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367885;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.1G>A;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367885;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;LOF=(MGST3|ENSG00000143198|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000367889;SAVANT_GENE=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;SAVANT_INFO=+/24.8kb/6/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-17619G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MGST3+c.-17619G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165601466">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,40:71:99:1054,0,908:127	0/1:31,37:68:99:1043,0,826:127	0/1:29,30:59:99:882,0,862:127
1	165601566	.	T	C	2408.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs9333379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9333379" target="_blank">rs9333379</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.35+55T>C;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367885;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367889;SAVANT_GENE=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;SAVANT_INFO=+/24.8kb/6/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-17519T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MGST3+c.-17519T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165601566">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,19:41:99:532,0,668:125	1|0:25,16:41:99:381,0,800:125	0|0:42,0:42:99:0,126,1493:125
1	165619079	.	C	T	3762.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6681;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6681" target="_blank">rs6681</a>;ExAC.Info.AC=3915;ExAC.Info.AN=126704;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3762;ExAC.Info.AC_Hom=76;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37C>T;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367885;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg13Cys/c.37C>T;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367885;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367889;SAVANT_GENE=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;SAVANT_INFO=+/24.8kb/6/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-6C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MGST3+c.-6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165619079">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,1:112:99:0,300,3951:127	0|1:77,66:143:99:1900,0,2344:127	0|0:118,0:118:99:0,354,4028:127
1	165620401	.	C	T	2268.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs9333475;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9333475" target="_blank">rs9333475</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.233+77C>T;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367885;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367889;SAVANT_GENE=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;SAVANT_INFO=+/24.8kb/6/1.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.191+77C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MGST3+c.191+77C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165620401">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,346,3880:127	0|1:51,37:88:99:1153,0,1540:127	0|0:113,0:113:99:0,339,3765:127
1	165621322	.	TATTATC	T	10679.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs77176546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77176546" target="_blank">rs77176546</a>;ExAC.Info.AC=27745;ExAC.Info.AN=126690;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=21237;ExAC.Info.AC_Hom=3112;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.291+51_291+56delATTATC;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367885;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367889;SAVANT_GENE=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;SAVANT_INFO=+/24.8kb/6/1.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.249+52_249+57del6;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MGST3+c.249+52_249+57del6+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165621322">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,51:103:99:1975,0,3031:127	1|0:85,74:159:99:2818,0,4256:127	0|0:117,0:117:99:0,351,6882:127
1	165624799	.	G	T	8031.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=393;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs8133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8133" target="_blank">rs8133</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=58;snpeff.Amino_Acid_Change=c.*58G>T;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367885;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367889;SAVANT_GENE=MGST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGST3" target="_blank">MGST3</a>;SAVANT_INFO=+/24.8kb/6/1.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*58G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MGST3+c.*58G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165624799">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,65:127:99:1853,0,1994:127	1|0:64,74:138:99:2337,0,2117:127	0|0:128,0:128:99:0,385,4861:127
1	165648709	.	C	T	7019.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1143661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1143661" target="_blank">rs1143661</a>;ExAC.Info.AC=8721;ExAC.Info.AN=126700;ExAC.Info.AF=0.069;ExAC.Info.AC_Het=8046;ExAC.Info.AC_Hom=336;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala300Ala/c.900G>A;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=ALDH9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH9A1" target="_blank">ALDH9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354775;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354775;SAVANT_GENE=ALDH9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH9A1" target="_blank">ALDH9A1</a>;SAVANT_INFO=-/36.6kb/11/2.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.900G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH9A1+c.900G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165648709">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,53:112:99:1436,0,1554:127	0|0:132,0:132:99:0,400,5337:127	1|0:55,55:110:99:1680,0,1597:127
1	165648710	.	G	A	4412.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs1143660;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1143660" target="_blank">rs1143660</a>;ExAC.Info.AC=3281;ExAC.Info.AN=126702;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=3143;ExAC.Info.AC_Hom=69;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala300Val/c.899C>T;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=ALDH9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH9A1" target="_blank">ALDH9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354775;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354775;SAVANT_GENE=ALDH9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH9A1" target="_blank">ALDH9A1</a>;SAVANT_INFO=-/36.6kb/11/2.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.899C>T_p.Ala300Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH9A1+c.899C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165648710">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,339,4328:127	0|1:59,72:131:99:2225,0,1666:127	0|0:113,0:113:99:0,339,4484:127
1	165652273	.	A	G	8780.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1143659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1143659" target="_blank">rs1143659</a>;ExAC.Info.AC=90889;ExAC.Info.AN=126704;ExAC.Info.AF=0.717;ExAC.Info.AC_Het=24444;ExAC.Info.AC_Hom=33209;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile134Ile/c.402T>C;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=ALDH9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH9A1" target="_blank">ALDH9A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354775;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354775;SAVANT_GENE=ALDH9A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH9A1" target="_blank">ALDH9A1</a>;SAVANT_INFO=-/36.6kb/11/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.402T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH9A1+c.402T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165652273">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,37:64:99:1078,0,748:127	0/1:45,42:87:99:1264,0,1332:127	0/1:31,42:73:99:1253,0,868:127
1	165712555	.	GA	G	434.42	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Craniofacial_dysmorphism|_skeletal_anomalies|_and_mental_retardation_syndrome|_614132_(3);dbSNP139.ID=rs71826578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71826578" target="_blank">rs71826578</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.477-8delT;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=TMCO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO1" target="_blank">TMCO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367881;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477delT;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=TMCO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO1" target="_blank">TMCO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367881;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367881;SAVANT_GENE=TMCO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO1" target="_blank">TMCO1</a>;SAVANT_INFO=-/42.4kb/7/2.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.324-8delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMCO1+c.324-8delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165712555">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,11:31:99:141,0,302:16	0/1:33,5:38:16:16,0,646:16	0/1:23,9:32:99:114,0,464:16
1	165727274	.	CTCT	C	25339.25	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=447;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Craniofacial_dysmorphism|_skeletal_anomalies|_and_mental_retardation_syndrome|_614132_(3);dbSNP139.ID=rs71678704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71678704" target="_blank">rs71678704</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.361+1485_361+1487delAGA;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=TMCO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO1" target="_blank">TMCO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367881;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367881;SAVANT_GENE=TMCO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO1" target="_blank">TMCO1</a>;SAVANT_INFO=-/42.4kb/7/2.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.208+1485_208+1487delAGA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMCO1+c.208+1485_208+1487delAGA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165727274">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,71:123:99:2765,0,2092:127	1|1:2,180:182:99:7838,451,0:127	0|0:142,0:142:99:0,427,6743:127
1	165737704	.	C	G	60910.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=836;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Craniofacial_dysmorphism|_skeletal_anomalies|_and_mental_retardation_syndrome|_614132_(3);dbSNP139.ID=rs2790053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2790053" target="_blank">rs2790053</a>;ExAC.Info.AC=58059;ExAC.Info.AN=68728;ExAC.Info.AF=0.845;ExAC.Info.AC_Het=1699;ExAC.Info.AC_Hom=8778;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.224-198G>C;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=TMCO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO1" target="_blank">TMCO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367881;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367881;SAVANT_GENE=TMCO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCO1" target="_blank">TMCO1</a>;SAVANT_INFO=-/42.4kb/7/2.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.71-198G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMCO1+c.71-198G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165737704">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,274:274:99:9023,823,0:127	1|1:0,301:301:99:9964,904,0:127	1|1:0,261:261:99:9033,784,0:127
1	165859630	.	C	G	25731.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs477033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=477033" target="_blank">rs477033</a>;ExAC.Info.AC=126684;ExAC.Info.AN=126690;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=63175;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.259+30C>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=UCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCK2" target="_blank">UCK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367879;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260C>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=UCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCK2" target="_blank">UCK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367879;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260C>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=UCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCK2" target="_blank">UCK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367879;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367879;SAVANT_GENE=UCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCK2" target="_blank">UCK2</a>;SAVANT_INFO=+/80.6kb/7/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.259+30C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UCK2+c.259+30C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165859630">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2459,204,0:127	1|1:0,122:122:99:4421,366,0:127	1|1:0,107:107:99:3906,322,0:127
1	165859640	.	G	GTGT	9912.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs138035087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138035087" target="_blank">rs138035087</a>;ExAC.Info.AC=15776;ExAC.Info.AN=126672;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=12938;ExAC.Info.AC_Hom=1230;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.259+41_259+42insTGT;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=UCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCK2" target="_blank">UCK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367879;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260_261insTGT;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=UCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCK2" target="_blank">UCK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367879;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260_261insTGT;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=UCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCK2" target="_blank">UCK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367879;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367879;SAVANT_GENE=UCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCK2" target="_blank">UCK2</a>;SAVANT_INFO=+/80.6kb/7/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.259+43_259+45dupTTG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=UCK2+c.259+43_259+45dupTTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:165859640">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,37:58:99:1484,0,755:127	1|0:47,53:100:99:2074,0,1803:127	0|0:92,0:92:99:0,278,4126:127
1	166029825	.	C	T	3414.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72703906;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72703906" target="_blank">rs72703906</a>;ExAC.Info.AC=1;ExAC.Info.AN=20536;ExAC.Info.AF=4.869e-05;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FAM78B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM78B" target="_blank">FAM78B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM78B" target="_blank">FAM78B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM78B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166029825">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,28:40:99:789,0,329:116	1|0:18,27:45:99:817,0,587:116	0|0:39,0:39:99:0,117,1465:116
1	166029970	.	T	C	7362.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4353067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4353067" target="_blank">rs4353067</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FAM78B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM78B" target="_blank">FAM78B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM78B" target="_blank">FAM78B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM78B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166029970">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,23:68:99:690,0,1128:110	1|1:0,68:68:99:2383,204,0:110	0|0:51,1:52:99:0,111,1644:110
1	166039898	.	C	G	6729.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41269662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41269662" target="_blank">rs41269662</a>;ExAC.Info.AC=24142;ExAC.Info.AN=126702;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=18622;ExAC.Info.AC_Hom=2746;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtC;snpeff.Amino_Acid_Change=p.Val122Val/c.366G>C;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=FAM78B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM78B" target="_blank">FAM78B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354422;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338353;SAVANT_GENE=FAM78B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM78B" target="_blank">FAM78B</a>;SAVANT_INFO=-/97.0kb/3/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.366G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM78B+c.366G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166039898">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,43:86:99:1370,0,1386:127	1|0:61,37:98:99:1093,0,2054:127	0|0:83,0:83:99:0,249,3096:127
1	166124134	.	A	G	33721.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs896402;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=896402" target="_blank">rs896402</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.307-6938T>C;snpeff.Gene_Name=RP11-9L18.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-9L183" target="_blank">RP11-9L183</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.263+11089T>C;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=FAM78B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-9L183" target="_blank">RP11-9L183</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354422;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338353;SAVANT_GENE=FAM78B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM78B" target="_blank">FAM78B</a>;SAVANT_INFO=-/97.0kb/3/1.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.263+11089T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM78B+c.263+11089T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166124134">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:4320,361,0:127	1|1:0,163:163:99:5660,490,0:127	1|1:0,115:115:99:3933,345,0:127
1	166591271	.	T	C	5712.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17472444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17472444" target="_blank">rs17472444</a>;ExAC.Info.AC=2789;ExAC.Info.AN=20464;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=2134;ExAC.Info.AC_Hom=220;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.904+2T>C;snpeff.Gene_Name=FMO9P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO9P" target="_blank">FMO9P</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000477875;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.905T>C;snpeff.Gene_Name=FMO9P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO9P" target="_blank">FMO9P</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000477875;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO9P" target="_blank">FMO9P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO9P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166591271">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,33:64:99:918,0,845:127	0|0:99,0:99:99:0,297,3391:127	1|0:42,41:83:99:1313,0,1246:127
1	166818566	.	A	G	4560.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=542;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2075946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075946" target="_blank">rs2075946</a>;ExAC.Info.AC=28242;ExAC.Info.AN=126696;ExAC.Info.AF=0.223;ExAC.Info.AC_Het=20289;ExAC.Info.AC_Hom=3905;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala250Ala/c.750A>G;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=POGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGK" target="_blank">POGK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367875;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367875;SAVANT_GENE=POGK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POGK" target="_blank">POGK</a>;SAVANT_INFO=+/14.4kb/5/6.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.750A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POGK+c.750A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166818566">View</a>	GT:AD:DP:GQ:PL:TP	0|0:168,0:168:99:0,504,5648:127	0|0:193,0:193:99:0,578,6289:127	0|1:98,83:181:99:2299,0,2830:127
1	166827602	.	A	T	448.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10800270;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10800270" target="_blank">rs10800270</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.693-84T>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=TADA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TADA1" target="_blank">TADA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367874;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367874;SAVANT_GENE=TADA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TADA1" target="_blank">TADA1</a>;SAVANT_INFO=-/19.8kb/8/2.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.693-84T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TADA1+c.693-84T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166827602">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,911:59	0|0:31,1:32:60:0,60,1016:59	0|1:14,9:23:99:243,0,378:59
1	166831703	.	C	CA	2989.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs35181816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35181816" target="_blank">rs35181816</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.331-54_331-55insT;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=TADA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TADA1" target="_blank">TADA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367874;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367874;SAVANT_GENE=TADA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TADA1" target="_blank">TADA1</a>;SAVANT_INFO=-/19.8kb/8/2.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.331-55dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TADA1+c.331-55dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166831703">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:672,60,0:60	1|0:7,7:14:99:193,0,184:60	1|0:9,12:21:99:340,0,240:60
1	166833199	.	C	A	13903.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2272793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272793" target="_blank">rs2272793</a>;ExAC.Info.AC=45191;ExAC.Info.AN=126664;ExAC.Info.AF=0.357;ExAC.Info.AC_Het=28056;ExAC.Info.AC_Hom=8281;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.233-41G>T;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=TADA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TADA1" target="_blank">TADA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367874;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367874;SAVANT_GENE=TADA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TADA1" target="_blank">TADA1</a>;SAVANT_INFO=-/19.8kb/8/2.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.233-41G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TADA1+c.233-41G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166833199">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:2742,255,0:127	1|0:73,61:134:99:1682,0,2178:127	1|0:48,42:90:99:1135,0,1471:127
1	166889882	.	T	C	474.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs75773431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75773431" target="_blank">rs75773431</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1884+62A>G;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=ILDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILDR2" target="_blank">ILDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271417;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1885T>C;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=ILDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILDR2" target="_blank">ILDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271417;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1885T>C;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=ILDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILDR2" target="_blank">ILDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271417;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1885T>C;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=ILDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILDR2" target="_blank">ILDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271417;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1885T>C;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=ILDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILDR2" target="_blank">ILDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271417;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1885T>C;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=ILDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILDR2" target="_blank">ILDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271417;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1885T>C;snpeff.Amino_Acid_length=639;snpeff.Gene_Name=ILDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILDR2" target="_blank">ILDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271417;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271417;SAVANT_GENE=ILDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILDR2" target="_blank">ILDR2</a>;SAVANT_INFO=-/56.6kb/10/2.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1884+62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ILDR2+c.1884+62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166889882">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1554:122	0|0:41,0:41:99:0,123,1564:122	0|1:26,9:35:99:256,0,874:122
1	166958601	.	T	C	2932.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=435;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2296837;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296837" target="_blank">rs2296837</a>;ExAC.Info.AC=30073;ExAC.Info.AN=126464;ExAC.Info.AF=0.238;ExAC.Info.AC_Het=20033;ExAC.Info.AC_Hom=3607;snpeff.Effect=sequence_feature[DNA-binding_region:HMG_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367872;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:HMG_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367872;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg4Arg/c.12T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367872;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367872;SAVANT_GENE=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;SAVANT_INFO=+/33.1kb/12/1.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.12T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAEL+c.12T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166958601">View</a>	GT:AD:DP:GQ:PL:TP	0|0:157,0:157:99:0,471,4788:127	0|0:151,0:151:99:0,452,4799:127	0|1:71,56:127:99:1485,0,1963:127
1	166958710	.	T	G	1970.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11578336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11578336" target="_blank">rs11578336</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=24430;ExAC.Info.AN=124696;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=12127;ExAC.Info.AC_Hom=1701;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121T>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367872;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121T>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367872;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:HMG_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121T>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367872;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:HMG_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121T>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367872;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Gca;snpeff.Amino_Acid_Change=p.Ser41Ala/c.121T>G;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367872;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367872;SAVANT_GENE=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;SAVANT_INFO=+/33.1kb/12/1.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.121T>G_p.Ser41Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAEL+c.121T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166958710">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,288,3031:127	0|0:108,0:108:99:0,325,3628:127	0|1:45,37:82:99:1004,0,1262:127
1	166963234	.	T	C	5350.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3736988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736988" target="_blank">rs3736988</a>;ExAC.Info.AC=43763;ExAC.Info.AN=126596;ExAC.Info.AF=0.346;ExAC.Info.AC_Het=26538;ExAC.Info.AC_Hom=7777;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.482-31T>C;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367872;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367872;SAVANT_GENE=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;SAVANT_INFO=+/33.1kb/12/1.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.482-31T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAEL+c.482-31T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166963234">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,43:79:99:1284,0,956:127	0/1:30,25:55:99:828,0,740:127	0/1:28,28:56:99:796,0,730:127
1	166963346	.	C	T	1546.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41269704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41269704" target="_blank">rs41269704</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.523+40C>T;snpeff.Amino_Acid_length=434;snpeff.Gene_Name=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367872;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367872;SAVANT_GENE=MAEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAEL" target="_blank">MAEL</a>;SAVANT_INFO=+/33.1kb/12/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.523+40C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAEL+c.523+40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:166963346">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2116:127	0|0:58,0:58:99:0,174,2204:127	0|1:26,27:53:99:792,0,756:127
1	167038219	.	C	A	1134.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72689400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72689400" target="_blank">rs72689400</a>;ExAC.Info.AC=1349;ExAC.Info.AN=126704;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1327;ExAC.Info.AC_Hom=12;snpeff.Effect=sequence_feature[domain:Ig-like_V-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Ttc;snpeff.Amino_Acid_Change=p.Val119Phe/c.355G>T;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367868;SAVANT_GENE=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;SAVANT_INFO=-/37.8kb/7/2.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.355G>T_p.Val119Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPA33+c.355G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167038219">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,554:41	0|0:24,0:24:72:0,72,934:41	0|1:7,17:24:99:586,0,221:41
1	167059462	.	G	C	8063.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2281963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281963" target="_blank">rs2281963</a>;ExAC.Info.AC=53504;ExAC.Info.AN=126702;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=28763;ExAC.Info.AC_Hom=12175;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.43+20C>G;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.44G>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.44G>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367868;SAVANT_GENE=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;SAVANT_INFO=-/37.8kb/7/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.43+20C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPA33+c.43+20C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167059462">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,45:91:99:1268,0,1428:127	1|0:67,55:122:99:1614,0,2122:127	0|0:88,0:88:99:0,265,3421:127
1	167059575	.	G	T	6899.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs28384507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28384507" target="_blank">rs28384507</a>;ExAC.Info.AC=46571;ExAC.Info.AN=126664;ExAC.Info.AF=0.368;ExAC.Info.AC_Het=26749;ExAC.Info.AC_Hom=8459;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=51;snpeff.Amino_Acid_Change=c.-51C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367868;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367868;SAVANT_GENE=GPA33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPA33" target="_blank">GPA33</a>;SAVANT_INFO=-/37.8kb/7/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-51C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPA33+c.-51C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167059575">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,39:101:99:838,0,1797:127	1|0:67,57:124:99:1510,0,2068:127	0|0:102,0:102:99:0,307,3717:127
1	167095163	.	G	C	6052.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs267745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=267745" target="_blank">rs267745</a>;ExAC.Info.AC=63572;ExAC.Info.AN=126704;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=28180;ExAC.Info.AC_Hom=17679;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu265Asp/c.795G>C;snpeff.Amino_Acid_length=1158;snpeff.Gene_Name=DUSP27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP27" target="_blank">DUSP27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361200;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361200;SAVANT_GENE=DUSP27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP27" target="_blank">DUSP27</a>;SAVANT_INFO=+/35.1kb/6/4.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.795G>C_p.Glu265Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP27+c.795G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167095163">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,28:57:99:786,0,844:127	0/1:39,28:67:99:721,0,1236:127	0/1:32,30:62:99:808,0,1037:127
1	167095765	.	G	A	5448.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6668826;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6668826" target="_blank">rs6668826</a>;ExAC.Info.AC=28682;ExAC.Info.AN=126624;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=18977;ExAC.Info.AC_Hom=4496;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg466His/c.1397G>A;snpeff.Amino_Acid_length=1158;snpeff.Gene_Name=DUSP27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP27" target="_blank">DUSP27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361200;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361200;SAVANT_GENE=DUSP27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP27" target="_blank">DUSP27</a>;SAVANT_INFO=+/35.1kb/6/4.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1397G>A_p.Arg466His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP27+c.1397G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167095765">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,23:60:99:562,0,1014:127	0/1:27,28:55:99:766,0,788:127	0/1:30,26:56:99:722,0,804:127
1	167095881	.	G	A	6578.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795605" target="_blank">rs3795605</a>;ExAC.Info.AC=28881;ExAC.Info.AN=126702;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=19452;ExAC.Info.AC_Hom=4691;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala505Thr/c.1513G>A;snpeff.Amino_Acid_length=1158;snpeff.Gene_Name=DUSP27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP27" target="_blank">DUSP27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361200;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361200;SAVANT_GENE=DUSP27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP27" target="_blank">DUSP27</a>;SAVANT_INFO=+/35.1kb/6/4.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1513G>A_p.Ala505Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP27+c.1513G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167095881">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,22:54:99:576,0,1072:127	0/1:32,39:71:99:1194,0,949:127	0/1:26,31:57:99:883,0,849:127
1	167097739	.	C	A	5418.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2281959;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281959" target="_blank">rs2281959</a>;ExAC.Info.AC=41577;ExAC.Info.AN=126690;ExAC.Info.AF=0.328;ExAC.Info.AC_Het=25857;ExAC.Info.AC_Hom=7634;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aAt;snpeff.Amino_Acid_Change=p.Thr1124Asn/c.3371C>A;snpeff.Amino_Acid_length=1158;snpeff.Gene_Name=DUSP27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP27" target="_blank">DUSP27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361200;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361200;SAVANT_GENE=DUSP27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP27" target="_blank">DUSP27</a>;SAVANT_INFO=+/35.1kb/6/4.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.3371C>A_p.Thr1124Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP27+c.3371C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167097739">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,21:43:99:541,0,755:127	0/1:31,33:64:99:995,0,986:127	0/1:20,26:46:99:767,0,631:127
1	167353258	.	AT	A	6174.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=158;MQ=70.03;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs35617253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35617253" target="_blank">rs35617253</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.813+71delT;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=POU2F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POU2F1" target="_blank">POU2F1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367866;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367866;SAVANT_GENE=POU2F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POU2F1" target="_blank">POU2F1</a>;SAVANT_INFO=+/206.5kb/16/13.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.813+80delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=POU2F1+c.813+80delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167353258">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1367,148,0:113	1|0:34,37:71:99:829,0,756:113	1|1:0,38:38:99:1070,114,0:113
1	167367193	.	C	T	16219.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7524019;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7524019" target="_blank">rs7524019</a>;ExAC.Info.AC=63456;ExAC.Info.AN=126630;ExAC.Info.AF=0.501;ExAC.Info.AC_Het=28060;ExAC.Info.AC_Hom=16848;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1130-38C>T;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=POU2F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POU2F1" target="_blank">POU2F1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367866;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367866;SAVANT_GENE=POU2F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POU2F1" target="_blank">POU2F1</a>;SAVANT_INFO=+/206.5kb/16/13.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1130-38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POU2F1+c.1130-38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167367193">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3023,279,0:127	1|0:44,38:82:99:1145,0,1368:127	1|1:0,77:77:99:2702,231,0:127
1	167382374	.	A	C	10342.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10753757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10753757" target="_blank">rs10753757</a>;ExAC.Info.AC=93565;ExAC.Info.AN=126704;ExAC.Info.AF=0.738;ExAC.Info.AC_Het=23807;ExAC.Info.AC_Hom=34868;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1990+23A>C;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=POU2F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POU2F1" target="_blank">POU2F1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367866;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367866;SAVANT_GENE=POU2F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POU2F1" target="_blank">POU2F1</a>;SAVANT_INFO=+/206.5kb/16/13.9kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1990+23A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POU2F1+c.1990+23A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167382374">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1494,132,0:127	1|0:30,27:57:99:841,0,808:127	1|1:0,56:56:99:2015,168,0:127
1	167404179	.	G	A	575.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=26;MQ=69.19;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Immunodeficiency_due_to_defect_in_CD3-zeta|_610163_(3);dbSNP139.ID=rs61806155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61806155" target="_blank">rs61806155</a>;ExAC.Info.AC=8410;ExAC.Info.AN=32938;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=3658;ExAC.Info.AC_Hom=1285;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.336+457C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ITAM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ITAM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ITAM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362089;SAVANT_GENE=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;SAVANT_INFO=-/87.9kb/8/1.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.336+457C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD247+c.336+457C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167404179">View</a>	GT:AD:DP:GQ:PL:TP	1|0:3,4:7:68:144,0,68:28	0|0:12,0:12:36:0,36,499:28	1|0:3,4:7:29:114,0,29:28
1	167407858	.	G	A	1966.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Immunodeficiency_due_to_defect_in_CD3-zeta|_610163_(3);dbSNP139.ID=rs33937946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33937946" target="_blank">rs33937946</a>;ExAC.Info.AC=5123;ExAC.Info.AN=126704;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=4709;ExAC.Info.AC_Hom=207;snpeff.Effect=sequence_feature[domain:ITAM_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.249G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ITAM_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.249G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.249G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.249G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.249G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.249G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.249G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.249G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.249G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr83Tyr/c.249C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphotyrosine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.249G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362089;SAVANT_GENE=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;SAVANT_INFO=-/87.9kb/8/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.249C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD247+c.249C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167407858">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,269,2912:127	0|0:105,0:105:99:0,315,3367:127	0|1:45,39:84:99:1002,0,1100:127
1	167408670	.	C	T	1595.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Immunodeficiency_due_to_defect_in_CD3-zeta|_610163_(3);dbSNP139.ID=rs840016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=840016" target="_blank">rs840016</a>;ExAC.Info.AC=39065;ExAC.Info.AN=126682;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=25157;ExAC.Info.AC_Hom=6858;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.163-33G>A;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163C>T;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362089;SAVANT_GENE=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;SAVANT_INFO=-/87.9kb/8/1.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.163-33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD247+c.163-33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167408670">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1750:127	0|1:40,30:70:99:817,0,1324:127	0|0:55,0:55:99:0,165,2065:127
1	167487586	.	C	G	5051.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Immunodeficiency_due_to_defect_in_CD3-zeta|_610163_(3);dbSNP139.ID=rs35864197;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35864197" target="_blank">rs35864197</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+59G>C;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.59C>G;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.59C>G;snpeff.Amino_Acid_length=164;snpeff.Gene_Name=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362089;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362089;SAVANT_GENE=CD247;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD247" target="_blank">CD247</a>;SAVANT_INFO=-/87.9kb/8/1.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.58+59G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD247+c.58+59G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167487586">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,43:77:99:1346,0,975:127	0|0:68,0:68:99:0,204,2613:127	1|0:22,25:47:99:785,0,657:127
1	167515272	.	T	C	13916.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7513428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7513428" target="_blank">rs7513428</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.659+66A>G;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=CREG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREG1" target="_blank">CREG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370509;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370509;SAVANT_GENE=CREG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREG1" target="_blank">CREG1</a>;SAVANT_INFO=-/12.8kb/4/2.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.659+66A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CREG1+c.659+66A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167515272">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1878,159,0:127	1|1:0,67:67:99:2351,201,0:127	1|1:0,59:59:99:2126,177,0:127
1	167517192	.	C	CGA	9957.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=2683;ExAC.Info.AN=126694;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2677;ExAC.Info.AC_Hom=41;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.474+47_474+46insTC;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=CREG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREG1" target="_blank">CREG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370509;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370509;SAVANT_GENE=CREG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREG1" target="_blank">CREG1</a>;SAVANT_INFO=-/12.8kb/4/2.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.474+45_474+46dupTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CREG1+c.474+45_474+46dupTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167517192">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,47:100:99:1889,0,2087:127	1|0:51,51:102:99:2134,0,1986:127	0|0:141,0:141:99:0,425,6332:127
1	167666316	.	T	C	7879.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72697738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72697738" target="_blank">rs72697738</a>;ExAC.Info.AC=7038;ExAC.Info.AN=126654;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=6467;ExAC.Info.AC_Hom=233;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.475-20T>C;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=RCSD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCSD1" target="_blank">RCSD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367854;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367854;SAVANT_GENE=RCSD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCSD1" target="_blank">RCSD1</a>;SAVANT_INFO=+/76.2kb/7/3.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.475-20T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCSD1+c.475-20T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167666316">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,53:106:99:1590,0,1363:127	1|0:64,61:125:99:1718,0,1803:127	0|0:96,0:96:99:0,289,3327:127
1	167734793	.	C	T	5010.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs763283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=763283" target="_blank">rs763283</a>;ExAC.Info.AC=27278;ExAC.Info.AN=126652;ExAC.Info.AF=0.215;ExAC.Info.AC_Het=19150;ExAC.Info.AC_Hom=3909;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-27C>T;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=MPZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPZL1" target="_blank">MPZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359523;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.92C>T;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=MPZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPZL1" target="_blank">MPZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359523;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.92C>T;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=MPZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPZL1" target="_blank">MPZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359523;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359523;SAVANT_GENE=MPZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPZL1" target="_blank">MPZL1</a>;SAVANT_INFO=+/70.0kb/6/5.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.92-27C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MPZL1+c.92-27C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167734793">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,39:75:99:984,0,1038:127	0|0:87,0:87:99:0,261,3075:127	1|0:36,39:75:99:1015,0,999:127
1	167778843	.	G	A	17077.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=741;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3213588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3213588" target="_blank">rs3213588</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167778843">View</a>	GT:AD:DP:GQ:PL:TP	0|1:107,119:226:99:3349,0,3484:127	1|0:126,149:275:99:4348,0,3981:127	0|0:240,0:240:99:0,721,8817:127
1	167787265	.	C	T	17927.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1004;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12060498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12060498" target="_blank">rs12060498</a>;ExAC.Info.AC=16955;ExAC.Info.AN=126698;ExAC.Info.AF=0.134;ExAC.Info.AC_Het=14004;ExAC.Info.AC_Hom=1319;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4482+45G>A;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=In31/32;SAVANT_HGVS=c.4482+45G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.4482+45G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167787265">View</a>	GT:AD:DP:GQ:PL:TP	0|1:170,156:326:99:4548,0,4913:127	1|0:173,159:332:99:4792,0,5188:127	0|0:346,0:346:99:0,1038,12478:127
1	167792356	.	G	A	20604.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1045;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72697797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72697797" target="_blank">rs72697797</a>;ExAC.Info.AC=3722;ExAC.Info.AN=126704;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=3548;ExAC.Info.AC_Hom=87;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro1353Leu/c.4058C>T;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.4058C>T_p.Pro1353Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.4058C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167792356">View</a>	GT:AD:DP:GQ:PL:TP	0|1:156,158:314:99:4230,0,4284:127	1|0:217,182:399:99:5174,0,5989:127	0|0:332,0:332:99:0,997,11177:127
1	167793670	.	C	T	19694.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1087;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1476074;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1476074" target="_blank">rs1476074</a>;ExAC.Info.AC=51239;ExAC.Info.AN=126700;ExAC.Info.AF=0.404;ExAC.Info.AC_Het=29805;ExAC.Info.AC_Hom=10671;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4052+44G>A;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.4052+44G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.4052+44G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167793670">View</a>	GT:AD:DP:GQ:PL:TP	0|1:155,170:325:99:4464,0,4345:127	1|0:211,178:389:99:4792,0,5735:127	0|0:373,0:373:99:0,1120,12434:127
1	167806647	.	T	A	10238.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=542;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1034463;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1034463" target="_blank">rs1034463</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3008-91A>T;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.3008-91A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.3008-91A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167806647">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,87:158:99:2340,0,1805:127	1|0:108,83:191:99:2253,0,3125:127	0|0:193,0:193:99:0,580,6817:127
1	167815030	.	A	G	6940.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12048517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12048517" target="_blank">rs12048517</a>;ExAC.Info.AC=8198;ExAC.Info.AN=126704;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=7210;ExAC.Info.AC_Hom=491;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile926Ile/c.2778T>C;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2778T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.2778T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167815030">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,37:76:99:1090,0,1066:127	0|0:102,0:102:99:0,307,3621:127	1|0:40,51:91:99:1493,0,1153:127
1	167815167	.	T	C	5774.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2269678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2269678" target="_blank">rs2269678</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2716+56A>G;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2716+56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.2716+56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167815167">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,27:72:99:758,0,1270:127	1|0:59,48:107:99:1414,0,1709:127	0|0:92,0:92:99:0,277,3195:127
1	167817639	.	A	G	58524.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=773;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs203795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=203795" target="_blank">rs203795</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=95720;ExAC.Info.AN=126704;ExAC.Info.AF=0.755;ExAC.Info.AC_Het=22556;ExAC.Info.AC_Hom=36576;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly799Gly/c.2397T>C;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2397T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.2397T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167817639">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,246:246:99:7916,737,0:127	1|1:0,261:261:99:8639,784,0:127	1|1:0,266:266:99:8905,799,0:127
1	167825485	.	T	C	30480.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=665;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2071921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2071921" target="_blank">rs2071921</a>;ExAC.Info.AC=57845;ExAC.Info.AN=126698;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=29686;ExAC.Info.AC_Hom=14070;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile697Val/c.2089A>G;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2089A>G_p.Ile697Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.2089A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167825485">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,200:200:99:7064,601,0:127	1|0:141,115:256:99:3193,0,4115:127	1|0:125,84:209:99:2365,0,3771:127
1	167825606	.	A	G	15312.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=743;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2071922;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2071922" target="_blank">rs2071922</a>;ExAC.Info.AC=22476;ExAC.Info.AN=126704;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=17152;ExAC.Info.AC_Hom=2659;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe656Phe/c.1968T>C;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1968T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.1968T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167825606">View</a>	GT:AD:DP:GQ:PL:TP	1|0:120,110:230:99:3124,0,3021:127	0|0:272,0:272:99:0,817,9046:127	1|0:128,113:241:99:3269,0,3493:127
1	167825718	.	C	T	6818.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7537851;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7537851" target="_blank">rs7537851</a>;ExAC.Info.AC=31572;ExAC.Info.AN=126676;ExAC.Info.AF=0.249;ExAC.Info.AC_Het=23241;ExAC.Info.AC_Hom=4027;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1897-41G>A;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1897-41G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.1897-41G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167825718">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,49:98:99:1429,0,1349:127	1|0:62,57:119:99:1746,0,1727:127	0|0:112,0:112:99:0,337,3913:127
1	167839578	.	G	A	16470.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=943;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs67878347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67878347" target="_blank">rs67878347</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=23413;ExAC.Info.AN=126704;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=18627;ExAC.Info.AC_Hom=2372;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val511Val/c.1533C>T;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1533C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.1533C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167839578">View</a>	GT:AD:DP:GQ:PL:TP	0|1:167,129:296:99:3402,0,5150:127	1|0:203,145:348:99:3869,0,6196:127	0|0:299,0:299:99:0,899,10815:127
1	167849318	.	A	G	7602.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs203847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=203847" target="_blank">rs203847</a>;ExAC.Info.AC=35987;ExAC.Info.AN=126432;ExAC.Info.AF=0.285;ExAC.Info.AC_Het=20877;ExAC.Info.AC_Hom=4258;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1216+35T>C;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1217A>G;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1217A>G;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1217A>G;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1217A>G;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1216+35T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.1216+35T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167849318">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,38:96:99:1112,0,1862:127	1|0:61,79:140:99:2343,0,1987:127	0|0:111,0:111:99:0,334,4365:127
1	167849414	.	A	G	16735.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=848;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs203849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=203849" target="_blank">rs203849</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=59999;ExAC.Info.AN=126694;ExAC.Info.AF=0.474;ExAC.Info.AC_Het=30746;ExAC.Info.AC_Hom=13819;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155A>G;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155A>G;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155A>G;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155A>G;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly385Gly/c.1155T>C;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1155T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.1155T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167849414">View</a>	GT:AD:DP:GQ:PL:TP	0|1:143,108:251:99:2705,0,3812:127	1|0:152,161:313:99:4355,0,4190:127	0|0:284,0:284:99:0,851,9438:127
1	167871297	.	GA	G	750.0	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=590;MQ=70.01;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs71735758;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71735758" target="_blank">rs71735758</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.254-6delT;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.254delA;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.254delA;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.254delA;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.254delA;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Guanylate_cyclase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.254delA;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.254delT;snpeff.Amino_Acid_length=1610;snpeff.Gene_Name=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367851;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367851;SAVANT_GENE=ADCY10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY10" target="_blank">ADCY10</a>;SAVANT_INFO=-/104.5kb/33/5.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.254-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCY10+c.254-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167871297">View</a>	GT:AD:DP:GQ:PL:TP	0|1:159,23:182:25:25,0,3422:25	1|0:191,40:231:99:260,0,4183:25	0|0:158,19:177:60:0,60,3470:25
1	167889145	.	CA	C	10.19	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=243;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs199537893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199537893" target="_blank">rs199537893</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.347+71delT;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=MPC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPC2" target="_blank">MPC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367846;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367846;SAVANT_GENE=BRP44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRP44" target="_blank">BRP44</a>;SAVANT_INFO=-/19.3kb/5/2.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.347+71delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRP44+c.347+71delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167889145">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,2:75:99:0,171,1786:28	0|1:79,13:92:28:28,0,1714:28	0|0:69,7:76:59:0,59,1556:28
1	167893759	.	G	A	4481.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9618;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9618" target="_blank">rs9618</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=44763;ExAC.Info.AN=126324;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=24385;ExAC.Info.AC_Hom=7800;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe42Phe/c.126C>T;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=MPC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPC2" target="_blank">MPC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367846;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367846;SAVANT_GENE=BRP44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRP44" target="_blank">BRP44</a>;SAVANT_INFO=-/19.3kb/5/2.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.126C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRP44+c.126C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167893759">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,12:34:99:314,0,722:127	0/1:21,26:47:99:750,0,673:127	0/1:26,29:55:99:817,0,627:127
1	167906239	.	A	C	6860.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=74;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs203788;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=203788" target="_blank">rs203788</a>;ExAC.Info.AC=125423;ExAC.Info.AN=125460;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=56817;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MPC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPC2" target="_blank">MPC2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgC;snpeff.Amino_Acid_Change=p.Arg30Arg/c.90A>C;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=DCAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPC2" target="_blank">MPC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367840;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367840;SAVANT_GENE=DCAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF6" target="_blank">DCAF6</a>;SAVANT_INFO=+/139.0kb/22/3.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.90A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCAF6+c.90A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167906239">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:874,78,0:65	1|1:0,26:26:78:891,78,0:65	1|1:0,22:22:66:867,66,0:65
1	167973976	.	C	T	17699.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=662;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1060041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1060041" target="_blank">rs1060041</a>;ExAC.Info.AC=29254;ExAC.Info.AN=126704;ExAC.Info.AF=0.231;ExAC.Info.AC_Het=21056;ExAC.Info.AC_Hom=4087;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp441Asp/c.1323C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=DCAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF6" target="_blank">DCAF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367840;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367840;SAVANT_GENE=DCAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF6" target="_blank">DCAF6</a>;SAVANT_INFO=+/139.0kb/22/3.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1323C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCAF6+c.1323C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:167973976">View</a>	GT:AD:DP:GQ:PL:TP	0/1:111,86:197:99:2009,0,3068:127	0/1:136,112:248:99:2930,0,3767:127	0/1:112,105:217:99:2802,0,3278:127
1	168013850	.	T	C	3257.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11558511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11558511" target="_blank">rs11558511</a>;ExAC.Info.AC=31263;ExAC.Info.AN=126700;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=22826;ExAC.Info.AC_Hom=4203;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val624Ala/c.1871T>C;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=DCAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF6" target="_blank">DCAF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367840;SAVANT_GENE=DCAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF6" target="_blank">DCAF6</a>;SAVANT_INFO=+/139.0kb/22/3.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1871T>C_p.Val624Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCAF6+c.1871T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168013850">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,22:45:99:565,0,571:127	0|0:60,0:60:99:0,180,2061:127	1|0:29,29:58:99:717,0,779:127
1	168059866	.	A	G	7259.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs275149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=275149" target="_blank">rs275149</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=42761;ExAC.Info.AN=125618;ExAC.Info.AF=0.340;ExAC.Info.AC_Het=25996;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1200A>G;snpeff.Amino_Acid_length=549;snpeff.Gene_Name=GPR161;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR161" target="_blank">GPR161</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537209;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1200A>G;snpeff.Amino_Acid_length=549;snpeff.Gene_Name=GPR161;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR161" target="_blank">GPR161</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537209;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1200A>G;snpeff.Amino_Acid_length=549;snpeff.Gene_Name=GPR161;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR161" target="_blank">GPR161</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537209;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1200A>G;snpeff.Amino_Acid_length=549;snpeff.Gene_Name=GPR161;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR161" target="_blank">GPR161</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537209;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly400Gly/c.1200T>C;snpeff.Amino_Acid_length=549;snpeff.Gene_Name=GPR161;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR161" target="_blank">GPR161</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537209;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367838;SAVANT_GENE=GPR161;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR161" target="_blank">GPR161</a>;SAVANT_INFO=-/51.6kb/8/2.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1140T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR161+c.1140T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168059866">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,34:85:99:854,0,1449:127	0/1:59,30:89:99:836,0,1594:127	0/1:36,34:70:99:957,0,970:127
1	168106716	.	T	C	2124.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6664903;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6664903" target="_blank">rs6664903</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GPR161;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR161" target="_blank">GPR161</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR161" target="_blank">GPR161</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR161+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168106716">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,1902:127	0|0:72,0:72:99:0,216,2522:127	0|1:23,38:61:99:1081,0,664:127
1	168165767	.	CT	C	1235.12	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=69.91;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs35234155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35234155" target="_blank">rs35234155</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.517-17delT;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=TIPRL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIPRL" target="_blank">TIPRL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367833;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367833;SAVANT_GENE=TIPRL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIPRL" target="_blank">TIPRL</a>;SAVANT_INFO=+/21.8kb/7/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.517-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIPRL+c.517-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168165767">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,5:44:3:3,0,814:4	0|0:47,6:53:17:0,17,1072:4	1|0:19,33:52:99:588,0,316:4
1	168208308	.	T	C	7382.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs12142742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12142742" target="_blank">rs12142742</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.414-61T>C;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=SFT2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFT2D2" target="_blank">SFT2D2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271375;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>C;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=SFT2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFT2D2" target="_blank">SFT2D2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271375;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>C;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=SFT2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFT2D2" target="_blank">SFT2D2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271375;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271375;SAVANT_GENE=SFT2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFT2D2" target="_blank">SFT2D2</a>;SAVANT_INFO=+/17.1kb/8/1.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.414-61T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFT2D2+c.414-61T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168208308">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,23:43:99:685,0,518:127	1|1:0,53:53:99:1815,159,0:127	0|1:34,23:57:99:659,0,1057:127
1	168262338	.	C	T	11609.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=575;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Adrenocorticotropic_hormone_deficiency|_201400_(3);dbSNP139.ID=rs56064910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56064910" target="_blank">rs56064910</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.469-44C>T;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=TBX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX19" target="_blank">TBX19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367821;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:T-box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.469C>T;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=TBX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX19" target="_blank">TBX19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367821;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:T-box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.469C>T;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=TBX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX19" target="_blank">TBX19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367821;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:T-box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.469C>T;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=TBX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX19" target="_blank">TBX19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367821;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:T-box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.469C>T;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=TBX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX19" target="_blank">TBX19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367821;SAVANT_GENE=TBX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX19" target="_blank">TBX19</a>;SAVANT_INFO=+/33.4kb/8/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.469-44C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TBX19+c.469-44C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168262338">View</a>	GT:AD:DP:GQ:PL:TP	1|0:88,76:164:99:2128,0,2824:127	0|0:221,0:221:99:0,665,8510:127	1|0:106,84:190:99:2533,0,3375:127
1	168274201	.	G	A	3898.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Adrenocorticotropic_hormone_deficiency|_201400_(3);dbSNP139.ID=rs4656579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4656579" target="_blank">rs4656579</a>;ExAC.Info.AC=76420;ExAC.Info.AN=126670;ExAC.Info.AF=0.603;ExAC.Info.AC_Het=27859;ExAC.Info.AC_Hom=23835;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.728-45G>A;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=TBX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX19" target="_blank">TBX19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367821;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367821;SAVANT_GENE=TBX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX19" target="_blank">TBX19</a>;SAVANT_INFO=+/33.4kb/8/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.728-45G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TBX19+c.728-45G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168274201">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,15:34:99:419,0,511:110	1|1:0,37:37:99:1246,111,0:110	0|1:20,7:27:99:151,0,552:110
1	168282261	.	T	A	9613.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=820;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Adrenocorticotropic_hormone_deficiency|_201400_(3);dbSNP139.ID=rs3885717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3885717" target="_blank">rs3885717</a>;ExAC.Info.AC=55843;ExAC.Info.AN=126628;ExAC.Info.AF=0.441;ExAC.Info.AC_Het=30171;ExAC.Info.AC_Hom=12414;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=21;snpeff.Amino_Acid_Change=c.*21T>A;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=TBX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX19" target="_blank">TBX19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367821;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367821;SAVANT_GENE=TBX19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX19" target="_blank">TBX19</a>;SAVANT_INFO=+/33.4kb/8/2.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*21T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TBX19+c.*21T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168282261">View</a>	GT:AD:DP:GQ:PL:TP	0|0:247,0:247:99:0,742,8087:127	0|1:139,170:309:99:4826,0,3834:127	0|0:264,0:264:99:0,793,9072:127
1	168511284	.	T	C	524.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=159;MQ=69.21;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4282797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4282797" target="_blank">rs4282797</a>;ExAC.Info.AC=30034;ExAC.Info.AN=126612;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=18801;ExAC.Info.AC_Hom=4218;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.123T>C;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.123T>C;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro41Pro/c.123A>G;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367819;SAVANT_GENE=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;SAVANT_INFO=-/3.2kb/3/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.123A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL2+c.123A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168511284">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1612:127	0|0:71,0:71:99:0,213,2491:127	0|1:31,11:42:99:281,0,1003:127
1	168511321	.	C	T	34.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=137;MQ=69.43;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4501820;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4501820" target="_blank">rs4501820</a>;cosmic68.Histology_subtype=astrocytoma_Grade_II;ExAC.Info.AC=3384;ExAC.Info.AN=118024;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=2150;ExAC.Info.AC_Hom=462;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg29Lys/c.86G>A;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367819;SAVANT_GENE=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;SAVANT_INFO=-/3.2kb/3/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.86G>A_p.Arg29Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL2+c.86G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168511321">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,135,2319:36	0|0:60,0:60:99:0,181,3076:36	0|1:30,3:33:36:36,0,1429:36
1	168511325	.	G	C	40.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=130;MQ=69.46;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4301615;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4301615" target="_blank">rs4301615</a>;ExAC.Info.AC=3399;ExAC.Info.AN=117966;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=2161;ExAC.Info.AC_Hom=465;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cat/Gat;snpeff.Amino_Acid_Change=p.His28Asp/c.82C>G;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367819;SAVANT_GENE=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;SAVANT_INFO=-/3.2kb/3/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.82C>G_p.His28Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL2+c.82C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168511325">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,135,2319:39	0|0:54,0:54:99:0,181,3083:39	0|1:29,3:32:39:39,0,1407:39
1	168513067	.	C	A	2364.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=147;MQ=68.05;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61801330;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61801330" target="_blank">rs61801330</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.61+75G>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62C>A;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62C>A;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367819;SAVANT_GENE=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;SAVANT_INFO=-/3.2kb/3/0.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.61+75G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL2+c.61+75G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168513067">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,17:42:99:453,0,750:127	0|0:62,0:62:99:0,186,2154:127	1|0:23,20:43:99:571,0,666:127
1	168513109	.	A	G	1896.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=191;MQ=66.89;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3820404;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820404" target="_blank">rs3820404</a>;ExAC.Info.AC=18739;ExAC.Info.AN=126558;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=14091;ExAC.Info.AC_Hom=1022;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.61+33T>C;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>G;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367819;SAVANT_GENE=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;SAVANT_INFO=-/3.2kb/3/0.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.61+33T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL2+c.61+33T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168513109">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,16:49:99:376,0,916:127	0|0:85,0:85:99:0,255,2725:127	1|0:37,20:57:99:458,0,1398:127
1	168513129	.	C	T	2560.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=223;MQ=65.47;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3820405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820405" target="_blank">rs3820405</a>;ExAC.Info.AC=36045;ExAC.Info.AN=126650;ExAC.Info.AF=0.285;ExAC.Info.AC_Het=21913;ExAC.Info.AC_Hom=6411;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.61+13G>A;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62C>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62C>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367819;SAVANT_GENE=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;SAVANT_INFO=-/3.2kb/3/0.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.61+13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL2+c.61+13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168513129">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,4:58:41:0,41,1984:41	0|0:101,0:101:99:0,303,3546:41	0|1:19,45:64:99:1299,0,657:41
1	168513214	.	C	T	96.22	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=168;MQ=65.38;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3820406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820406" target="_blank">rs3820406</a>;ExAC.Info.AC=3770;ExAC.Info.AN=126378;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=2657;ExAC.Info.AC_Hom=50;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.-12G>A;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367819;SAVANT_GENE=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;SAVANT_INFO=-/3.2kb/3/0.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL2+c.-12G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168513214">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,8:55:99:128,0,1696:74	0|0:75,0:75:99:0,232,3256:74	1|0:35,3:38:1:0,5,1229:74
1	168513228	.	G	A	924.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=131;MQ=66.76;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3820407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820407" target="_blank">rs3820407</a>;ExAC.Info.AC=10281;ExAC.Info.AN=125978;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=6824;ExAC.Info.AC_Hom=552;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=26;snpeff.Amino_Acid_Change=c.-26C>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367819;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367819;SAVANT_GENE=XCL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL2" target="_blank">XCL2</a>;SAVANT_INFO=-/3.2kb/3/0.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL2+c.-26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168513228">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,12:42:99:330,0,953:127	0|0:62,0:62:99:0,186,2365:127	1|0:22,5:27:99:130,0,871:127
1	168513243	.	G	A	1176.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=96;MQ=66.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1933114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1933114" target="_blank">rs1933114</a>;ExAC.Info.AC=37729;ExAC.Info.AN=126162;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=20532;ExAC.Info.AC_Hom=7960;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1933114" target="_blank">rs1933114</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168513243">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,1071:83	0|0:47,0:47:99:0,141,1746:83	0|1:3,18:21:72:607,0,72:83
1	168513274	.	A	G	83.05	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=69;MQ=67.89;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3820410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820410" target="_blank">rs3820410</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820410" target="_blank">rs3820410</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168513274">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,3:22:38:38,0,584:37	0|0:34,0:34:99:0,102,1166:37	1|0:11,2:13:30:30,0,380:37
1	168545864	.	A	G	1401.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=200;MQ=65.44;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs116453184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=116453184" target="_blank">rs116453184</a>;ExAC.Info.AC=13814;ExAC.Info.AN=126672;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=12919;ExAC.Info.AC_Hom=317;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.-12A>G;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367818;SAVANT_GENE=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;SAVANT_INFO=+/5.6kb/3/1.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL1+c.-12A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168545864">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,19:81:99:438,0,2023:127	0|0:52,0:52:99:0,156,1916:127	1|0:55,12:67:99:227,0,1798:127
1	168545949	.	G	A	14526.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=317;MQ=64.30;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs34933908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34933908" target="_blank">rs34933908</a>;ExAC.Info.AC=72066;ExAC.Info.AN=126698;ExAC.Info.AF=0.569;ExAC.Info.AC_Het=37885;ExAC.Info.AC_Hom=16979;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.61+13G>A;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62G>A;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62G>A;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367818;SAVANT_GENE=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;SAVANT_INFO=+/5.6kb/3/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.61+13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL1+c.61+13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168545949">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,86:128:99:2275,0,916:127	1|1:0,88:88:99:2868,264,0:127	0|1:74,27:101:99:549,0,2283:127
1	168546011	.	A	T	239.15	VQSRTrancheSNP99.90to100.00	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=146;MQ=68.38;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;dbSNP139.ID=rs371404303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371404303" target="_blank">rs371404303</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.61+75A>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62A>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367818;SAVANT_GENE=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;SAVANT_INFO=+/5.6kb/3/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.61+75A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL1+c.61+75A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168546011">View</a>	GT:AD:DP:GQ:PL:TP	0/1:45,10:55:99:272,0,1830:10	0/0:46,0:46:99:0,138,2021:10	0/0:44,1:45:90:0,90,1935:10
1	168549422	.	C	T	7769.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=208;MQ=69.34;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6427130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427130" target="_blank">rs6427130</a>;ExAC.Info.AC=59607;ExAC.Info.AN=126678;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=31790;ExAC.Info.AC_Hom=13732;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.176+7C>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177C>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367818;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367818;SAVANT_GENE=XCL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XCL1" target="_blank">XCL1</a>;SAVANT_INFO=+/5.6kb/3/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.176+7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XCL1+c.176+7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168549422">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,33:53:99:1001,0,574:127	1|1:0,78:78:99:2627,234,0:127	0|0:77,0:77:99:0,231,2778:127
1	168665747	.	C	CT	17496.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs78760104;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78760104" target="_blank">rs78760104</a>;ExAC.Info.AC=72778;ExAC.Info.AN=126594;ExAC.Info.AF=0.575;ExAC.Info.AC_Het=29408;ExAC.Info.AC_Hom=20560;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39;snpeff.Amino_Acid_Change=c.*39_*40insA;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367817;SAVANT_GENE=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;SAVANT_INFO=-/33.8kb/4/1.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*39_*40insA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPT+c.*39_*40insA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168665747">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,60:103:99:2153,0,1425:127	0|1:75,60:135:99:2056,0,2613:127	1|1:0,95:95:99:3777,285,0:127
1	168683476	.	C	T	5367.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs35449613;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35449613" target="_blank">rs35449613</a>;ExAC.Info.AC=6226;ExAC.Info.AN=126702;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5824;ExAC.Info.AC_Hom=203;snpeff.Effect=sequence_feature[region_of_interest:2_X_53-55_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:2_X_53-55_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:2_X_53-55_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:2_X_53-55_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_6_AA_repeats_of_D-R-_EQ_-W-_NQK_-_FY_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_6_AA_repeats_of_D-R-_EQ_-W-_NQK_-_FY_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_6_AA_repeats_of_D-R-_EQ_-W-_NQK_-_FY_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_6_AA_repeats_of_D-R-_EQ_-W-_NQK_-_FY_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg138Arg/c.414G>A;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367817;SAVANT_GENE=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;SAVANT_INFO=-/33.8kb/4/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.414G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPT+c.414G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168683476">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,32:82:99:857,0,1646:127	0|0:97,0:97:99:0,292,3473:127	1|0:30,31:61:99:921,0,947:127
1	168698173	.	C	T	7302.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1052591;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052591" target="_blank">rs1052591</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=54556;ExAC.Info.AN=126704;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=28796;ExAC.Info.AC_Hom=12879;snpeff.Effect=sequence_feature[repeat:1-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:2_X_53-55_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:2_X_53-55_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:2_X_53-55_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:2_X_53-55_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_6_AA_repeats_of_D-R-_EQ_-W-_NQK_-_FY_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_6_AA_repeats_of_D-R-_EQ_-W-_NQK_-_FY_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_6_AA_repeats_of_D-R-_EQ_-W-_NQK_-_FY_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_6_AA_repeats_of_D-R-_EQ_-W-_NQK_-_FY_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr80Thr/c.240G>A;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367817;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367817;SAVANT_GENE=DPT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPT" target="_blank">DPT</a>;SAVANT_INFO=-/33.8kb/4/1.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.240G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPT+c.240G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:168698173">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,47:81:99:1289,0,1009:127	0/1:32,43:75:99:1302,0,951:127	0/1:30,28:58:99:739,0,945:127
1	169076212	.	G	C	4066.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs1200128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1200128" target="_blank">rs1200128</a>;ExAC.Info.AC=26411;ExAC.Info.AN=124318;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=12298;ExAC.Info.AC_Hom=2470;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.97+48G>C;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367815;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98G>C;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367815;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98G>C;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367815;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0024.1:E2F1];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367816;SAVANT_GENE=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;SAVANT_INFO=+/27.0kb/7/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.97+48G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1B1+c.97+48G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169076212">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,15:29:99:449,0,475:127	0/1:22,26:48:99:788,0,661:127	0/1:28,14:42:99:336,0,949:127
1	169094100	.	T	A	8072.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs968304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=968304" target="_blank">rs968304</a>;ExAC.Info.AC=76896;ExAC.Info.AN=126700;ExAC.Info.AF=0.607;ExAC.Info.AC_Het=29562;ExAC.Info.AC_Hom=23637;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.227-22T>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367815;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227T>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367815;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227T>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367815;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227T>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367815;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227T>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367815;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227T>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367815;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367816;SAVANT_GENE=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;SAVANT_INFO=+/27.0kb/7/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.227-22T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1B1+c.227-22T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169094100">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,1:104:99:0,303,3577:127	0|1:73,91:164:99:2647,0,2095:127	0|1:71,50:121:99:1409,0,2116:127
1	169101269	.	T	TG	2407.72	VQSRTrancheINDEL99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=76;MQ=72.80;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs199593766;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199593766" target="_blank">rs199593766</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367816;SAVANT_GENE=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;SAVANT_INFO=+/27.0kb/7/2.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*476_*477insG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1B1+c.*476_*477insG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169101269">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:60:0,60,880:35	0|1:15,31:46:99:1227,0,501:35	0|0:11,0:11:36:0,36,539:35
1	169101273	.	T	G	2450.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=83;MQ=72.66;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs1779796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1779796" target="_blank">rs1779796</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367816;SAVANT_GENE=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;SAVANT_INFO=+/27.0kb/7/2.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*480T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1B1+c.*480T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169101273">View</a>	GT:AD:DP:GQ:PL:TP	0|0:22,0:22:66:0,66,935:41	0|1:14,34:48:99:1244,0,477:41	0|0:13,0:13:42:0,42,576:41
1	169101280	.	G	T	197.06	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=98;MQ=72.19;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs184990529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=184990529" target="_blank">rs184990529</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367816;SAVANT_GENE=ATP1B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1B1" target="_blank">ATP1B1</a>;SAVANT_INFO=+/27.0kb/7/2.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*487G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP1B1+c.*487G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169101280">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,10:31:68:68,0,533:67	0|0:48,4:52:82:0,82,1757:67	1|0:10,5:15:25:25,0,238:67
1	169138027	.	A	G	2184.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs10919082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10919082" target="_blank">rs10919082</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1098+658T>C;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367811;SAVANT_GENE=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;SAVANT_INFO=-/235.4kb/12/1.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1098+658T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NME7+c.1098+658T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169138027">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1839:127	0|0:58,0:58:99:0,174,1891:127	0|1:27,36:63:99:1111,0,674:127
1	169138307	.	C	A	1528.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs4656656;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4656656" target="_blank">rs4656656</a>;ExAC.Info.AC=37494;ExAC.Info.AN=115742;ExAC.Info.AF=0.324;ExAC.Info.AC_Het=16332;ExAC.Info.AC_Hom=3418;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1098+378G>T;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367811;SAVANT_GENE=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;SAVANT_INFO=-/235.4kb/12/1.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1098+378G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NME7+c.1098+378G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169138307">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2143:127	0|0:71,0:71:99:0,213,2433:127	0|1:33,31:64:99:783,0,1005:127
1	169138318	.	T	A	1526.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs4656657;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4656657" target="_blank">rs4656657</a>;ExAC.Info.AC=38549;ExAC.Info.AN=115802;ExAC.Info.AF=0.333;ExAC.Info.AC_Het=17513;ExAC.Info.AC_Hom=4281;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1098+367A>T;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367811;SAVANT_GENE=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;SAVANT_INFO=-/235.4kb/12/1.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1098+367A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NME7+c.1098+367A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169138318">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2146:127	0|0:74,0:74:99:0,222,2434:127	0|1:37,33:70:99:782,0,1078:127
1	169159866	.	G	T	1001.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs7526721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7526721" target="_blank">rs7526721</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.991-21074C>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367811;SAVANT_GENE=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;SAVANT_INFO=-/235.4kb/12/1.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.991-21074C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NME7+c.991-21074C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169159866">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1125:92	0|0:39,0:39:99:0,117,1451:92	0|1:14,16:30:99:520,0,458:92
1	169200111	.	C	T	1658.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs10800420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10800420" target="_blank">rs10800420</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.889-54G>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367811;SAVANT_GENE=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;SAVANT_INFO=-/235.4kb/12/1.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.889-54G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NME7+c.889-54G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169200111">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2902:127	0|0:90,0:90:99:0,271,3301:127	0|1:45,28:73:99:848,0,1443:127
1	169268020	.	A	G	144.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.441-19T>C;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367811;SAVANT_GENE=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;SAVANT_INFO=-/235.4kb/12/1.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.441-19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NME7+c.441-19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169268020">View</a>	GT:AD:DP:GQ:PL:TP	0/1:137,15:152:88:88,0,4201:8	0/0:149,0:149:99:0,448,5452:8	0/0:129,0:129:99:0,388,4609:8
1	169272299	.	A	T	4192.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=406;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs10919130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10919130" target="_blank">rs10919130</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.440+84T>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367811;SAVANT_GENE=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;SAVANT_INFO=-/235.4kb/12/1.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.440+84T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NME7+c.440+84T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169272299">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,352,4161:127	0|0:147,0:147:99:0,442,5048:127	0|1:67,74:141:99:2115,0,1723:127
1	169272451	.	A	T	31416.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=356;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs10800427;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10800427" target="_blank">rs10800427</a>;ExAC.Info.AC=121432;ExAC.Info.AN=126492;ExAC.Info.AF=0.960;ExAC.Info.AC_Het=4603;ExAC.Info.AC_Hom=56826;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.390-18T>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367811;SAVANT_GENE=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;SAVANT_INFO=-/235.4kb/12/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.390-18T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NME7+c.390-18T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169272451">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:4287,292,0:127	1|1:0,148:148:99:6654,446,0:127	1|1:0,112:112:99:5005,337,0:127
1	169272453	.	G	A	31416.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs10800428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10800428" target="_blank">rs10800428</a>;ExAC.Info.AC=121431;ExAC.Info.AN=126492;ExAC.Info.AF=0.960;ExAC.Info.AC_Het=4597;ExAC.Info.AC_Hom=56587;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.390-20C>T;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367811;SAVANT_GENE=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;SAVANT_INFO=-/235.4kb/12/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.390-20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NME7+c.390-20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169272453">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:4287,292,0:127	1|1:0,144:144:99:6654,446,0:127	1|1:0,105:105:99:5005,337,0:127
1	169279196	.	T	TA	6059.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=726;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs34054662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34054662" target="_blank">rs34054662</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.389+12_389+11insT;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367811;SAVANT_GENE=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;SAVANT_INFO=-/235.4kb/12/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.389+11dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NME7+c.389+11dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169279196">View</a>	GT:AD:DP:GQ:PL:TP	0|0:222,0:222:99:0,667,6568:127	0|0:254,1:255:99:0,736,7435:127	0|1:125,124:249:99:3053,0,2947:127
1	169293721	.	G	A	2904.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_pressure_regulation_QTL]|_145500_(2)|[Blood_pressure_regulation_QTL]|_145500_(2);dbSNP139.ID=rs1140523;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1140523" target="_blank">rs1140523</a>;ExAC.Info.AC=44095;ExAC.Info.AN=126704;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=26850;ExAC.Info.AC_Hom=8546;snpeff.Effect=sequence_feature[domain:DM10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.21G>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DM10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.21G>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe7Phe/c.21C>T;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367811;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367811;SAVANT_GENE=NME7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NME7" target="_blank">NME7</a>;SAVANT_INFO=-/235.4kb/12/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.21C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NME7+c.21C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169293721">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,304,3665:127	0|0:127,0:127:99:0,382,4619:127	0|1:49,52:101:99:1471,0,1571:127
1	169391154	.	A	G	8721.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3820059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820059" target="_blank">rs3820059</a>;ExAC.Info.AC=85299;ExAC.Info.AN=126688;ExAC.Info.AF=0.673;ExAC.Info.AC_Het=26306;ExAC.Info.AC_Hom=29378;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tCt;snpeff.Amino_Acid_Change=p.Phe172Ser/c.515T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=CCDC181;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC181" target="_blank">CCDC181</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367806;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545005;SAVANT_GENE=C1orf114;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf114" target="_blank">C1orf114</a>;SAVANT_INFO=-/65.6kb/7/2.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.515T>C_p.Phe172Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf114+c.515T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169391154">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,41:70:99:1302,0,807:127	0|0:68,0:68:99:0,205,2477:127	1|1:0,77:77:99:2774,231,0:127
1	169394226	.	A	G	6247.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs10919168;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10919168" target="_blank">rs10919168</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-23-38T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=CCDC181;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC181" target="_blank">CCDC181</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367806;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545005;SAVANT_GENE=C1orf114;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf114" target="_blank">C1orf114</a>;SAVANT_INFO=-/65.6kb/7/2.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-61T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf114+c.-61T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169394226">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,24:43:99:779,0,446:127	0|0:59,0:59:99:0,177,2051:127	1|1:0,63:63:99:2096,189,0:127
1	169435027	.	C	T	46470.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=651;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Thiamine-responsive_megaloblastic_anemia_syndrome|_249270_(3);dbSNP139.ID=rs2678166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2678166" target="_blank">rs2678166</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=60;snpeff.Amino_Acid_Change=c.*60G>A;snpeff.Amino_Acid_length=497;snpeff.Gene_Name=SLC19A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC19A2" target="_blank">SLC19A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236137;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236137;SAVANT_GENE=SLC19A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC19A2" target="_blank">SLC19A2</a>;SAVANT_INFO=-/22.1kb/6/3.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*60G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC19A2+c.*60G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169435027">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,216:216:99:7298,649,0:127	1|1:0,246:246:99:8569,740,0:127	1|1:0,189:189:99:6691,568,0:127
1	169455435	.	G	C	5598.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2056926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2056926" target="_blank">rs2056926</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.52G>C;snpeff.Gene_Name=AL021068.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL0210681" target="_blank">AL0210681</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000392097;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL0210681" target="_blank">AL0210681</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL0210681+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169455435">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,31:61:99:931,0,940:127	0|0:87,1:88:99:0,231,3084:127	1|0:20,27:47:99:816,0,578:127
1	169483561	.	T	C	22310.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1103;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs6027;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6027" target="_blank">rs6027</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_FV1/FV2_ratio;hgmd_2014.2.OMIM_ID=612309;hgmd_2014.2.PubMed=20694279;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20694279" target="_blank">20694279</a>;ExAC.Info.AC=7679;ExAC.Info.AN=126696;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=7039;ExAC.Info.AC_Hom=313;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gGt;snpeff.Amino_Acid_Change=p.Asp2227Gly/c.6680A>G;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.6665A>G_p.Asp2222Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.6665A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169483561">View</a>	GT:AD:DP:GQ:PL:TP	1|0:188,159:347:99:4723,0,4840:127	0|0:381,0:381:99:0,1145,12929:127	1|0:179,196:375:99:5876,0,5146:127
1	169484767	.	A	G	10644.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1117;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs9332701;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9332701" target="_blank">rs9332701</a>;ExAC.Info.AC=3872;ExAC.Info.AN=126704;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3683;ExAC.Info.AC_Hom=94;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met2153Thr/c.6458T>C;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.6443T>C_p.Met2148Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.6443T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169484767">View</a>	GT:AD:DP:GQ:PL:TP	0|0:331,0:331:99:0,994,11142:127	0|0:400,0:400:99:0,1201,13927:127	0|1:199,187:386:99:5341,0,5689:127
1	169487821	.	G	T	6605.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs6013;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6013" target="_blank">rs6013</a>;ExAC.Info.AC=7628;ExAC.Info.AN=126690;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=7029;ExAC.Info.AC_Hom=292;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6209-20C>A;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.6194-20C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.6194-20C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169487821">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,50:93:99:1434,0,1210:127	0|0:144,0:144:99:0,433,4941:127	1|0:40,46:86:99:1379,0,1089:127
1	169498834	.	T	C	45018.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=624;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs6009;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6009" target="_blank">rs6009</a>;ExAC.Info.AC=118157;ExAC.Info.AN=126654;ExAC.Info.AF=0.933;ExAC.Info.AC_Het=7780;ExAC.Info.AC_Hom=54970;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5434+12A>G;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.5419+12A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.5419+12A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169498834">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,198:199:99:6583,564,0:127	1|1:1,222:223:99:7467,642,0:127	1|1:0,202:202:99:7045,607,0:127
1	169498975	.	T	C	37683.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6030" target="_blank">rs6030</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Thrombosis|_increased_risk;hgmd_2014.2.OMIM_ID=612309;hgmd_2014.2.PubMed=16542711;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16542711" target="_blank">16542711</a>;ExAC.Info.AC=42287;ExAC.Info.AN=126696;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=27111;ExAC.Info.AC_Hom=7575;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met1769Val/c.5305A>G;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.5290A>G_p.Met1764Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.5290A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169498975">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,162:162:99:5877,487,0:127	1|1:1,195:196:99:7194,553,0:127	1|0:86,82:168:99:2634,0,2400:127
1	169499951	.	C	T	13674.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=350;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs9332620;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9332620" target="_blank">rs9332620</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5223+73G>A;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.5208+73G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.5208+73G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169499951">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,57:109:99:1740,0,1478:127	1|1:1,132:133:99:4839,361,0:127	0|0:108,0:108:99:0,324,4080:127
1	169510233	.	G	A	10534.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1163;MQ=69.62;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs9332607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9332607" target="_blank">rs9332607</a>;ExAC.Info.AC=37589;ExAC.Info.AN=126700;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=24241;ExAC.Info.AC_Hom=6674;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr1370Thr/c.4110C>T;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.4095C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.4095C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169510233">View</a>	GT:AD:DP:GQ:PL:TP	0|0:348,1:349:99:0,1013,12861:127	0|0:415,0:415:99:0,1247,15445:127	0|1:211,188:399:99:5210,0,6598:127
1	169510348	.	T	C	22203.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1152;MQ=68.17;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1800595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800595" target="_blank">rs1800595</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Thrombosis|_increased_risk;hgmd_2014.2.OMIM_ID=612309;hgmd_2014.2.PubMed=9375735;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=9375735" target="_blank">9375735</a>;ExAC.Info.AC=7727;ExAC.Info.AN=126640;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=7090;ExAC.Info.AC_Hom=316;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His1332Arg/c.3995A>G;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.3980A>G_p.His1327Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.3980A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169510348">View</a>	GT:AD:DP:GQ:PL:TP	1|0:198,176:374:99:4984,0,6601:127	0|0:402,1:403:99:0,1163,16272:127	1|0:203,172:375:99:4973,0,5657:127
1	169510380	.	G	A	39276.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1178;MQ=68.33;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs9287090;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9287090" target="_blank">rs9287090</a>;ExAC.Info.AC=34354;ExAC.Info.AN=126610;ExAC.Info.AF=0.271;ExAC.Info.AC_Het=24139;ExAC.Info.AC_Hom=5105;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu1321Leu/c.3963C>T;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.3948C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.3948C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169510380">View</a>	GT:AD:DP:GQ:PL:TP	0|1:203,181:384:99:5075,0,6775:127	1|1:25,374:399:99:13429,1004,0:127	0|0:393,2:395:99:0,1131,14714:127
1	169510524	.	A	G	62285.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=1003;MQ=65.88;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs1800594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800594" target="_blank">rs1800594</a>;ExAC.Info.AC=39411;ExAC.Info.AN=126646;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=29554;ExAC.Info.AC_Hom=4697;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser1273Ser/c.3819T>C;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.3804T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.3804T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169510524">View</a>	GT:AD:DP:GQ:PL:TP	1|1:11,307:318:99:11304,902,0:127	1|1:9,328:337:99:12562,971,0:127	1|0:192,156:348:99:4686,0,5797:127
1	169511555	.	T	C	23644.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=541;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6032" target="_blank">rs6032</a>;ExAC.Info.AC=34519;ExAC.Info.AN=126702;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=24249;ExAC.Info.AC_Hom=5123;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys930Glu/c.2788A>G;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2773A>G_p.Lys925Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.2773A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169511555">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,75:154:99:2260,0,2109:127	1|1:0,219:219:99:8173,658,0:127	0|0:168,0:168:99:0,504,5720:127
1	169511734	.	T	C	31151.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=597;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4525" target="_blank">rs4525</a>;ExAC.Info.AC=34531;ExAC.Info.AN=126702;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=24264;ExAC.Info.AC_Hom=5127;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His870Arg/c.2609A>G;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2594A>G_p.His865Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.2594A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169511734">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,84:156:99:3175,0,2959:127	1|1:0,247:247:99:10445,751,0:127	0|0:194,0:194:99:0,593,9055:127
1	169511755	.	T	C	28165.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4524" target="_blank">rs4524</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Thrombosis|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=612309;hgmd_2014.2.PubMed=20124536;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20124536" target="_blank">20124536</a>;ExAC.Info.AC=34900;ExAC.Info.AN=126694;ExAC.Info.AF=0.275;ExAC.Info.AC_Het=24406;ExAC.Info.AC_Hom=5240;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys863Arg/c.2588A>G;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2573A>G_p.Lys858Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.2573A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169511755">View</a>	GT:AD:DP:GQ:PL:TP	0|1:66,75:141:99:2904,0,2765:127	1|1:0,210:210:99:9155,638,0:127	0|0:175,0:175:99:0,548,8521:127
1	169511878	.	T	G	8409.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6018" target="_blank">rs6018</a>;ExAC.Info.AC=7814;ExAC.Info.AN=126704;ExAC.Info.AF=0.062;ExAC.Info.AC_Het=7163;ExAC.Info.AC_Hom=325;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aCc;snpeff.Amino_Acid_Change=p.Asn822Thr/c.2465A>C;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2450A>C_p.Asn817Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.2450A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169511878">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,49:92:99:1544,0,1143:127	0|0:135,0:135:99:0,405,4608:127	1|0:53,57:110:99:1699,0,1537:127
1	169512027	.	T	C	23811.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=692;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs6021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6021" target="_blank">rs6021</a>;ExAC.Info.AC=34529;ExAC.Info.AN=126700;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=24258;ExAC.Info.AC_Hom=5126;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser772Ser/c.2316A>G;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2301A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.2301A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169512027">View</a>	GT:AD:DP:GQ:PL:TP	0|1:99,96:195:99:2802,0,2709:127	1|1:0,233:233:99:8067,700,0:127	0|0:264,0:264:99:0,794,9102:127
1	169512039	.	T	C	18528.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=739;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs6024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6024" target="_blank">rs6024</a>;ExAC.Info.AC=7814;ExAC.Info.AN=126704;ExAC.Info.AF=0.062;ExAC.Info.AC_Het=7164;ExAC.Info.AC_Hom=325;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu768Glu/c.2304A>G;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2289A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.2289A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169512039">View</a>	GT:AD:DP:GQ:PL:TP	1|0:102,107:209:99:3197,0,2745:127	0|0:254,0:254:99:0,763,8586:127	1|0:134,142:276:99:4260,0,3717:127
1	169512093	.	A	G	27985.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=812;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs6017;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6017" target="_blank">rs6017</a>;ExAC.Info.AC=34532;ExAC.Info.AN=126704;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=24263;ExAC.Info.AC_Hom=5126;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn750Asn/c.2250T>C;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2235T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.2235T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169512093">View</a>	GT:AD:DP:GQ:PL:TP	0|1:113,122:235:99:3473,0,3070:127	1|1:0,261:261:99:9330,784,0:127	0|0:316,0:316:99:0,949,10675:127
1	169512120	.	G	A	26214.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=779;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs6016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6016" target="_blank">rs6016</a>;ExAC.Info.AC=34522;ExAC.Info.AN=126698;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=24260;ExAC.Info.AC_Hom=5124;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile741Ile/c.2223C>T;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2208C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.2208C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169512120">View</a>	GT:AD:DP:GQ:PL:TP	0|1:105,114:219:99:3191,0,3256:127	1|1:0,266:266:99:8888,799,0:127	0|0:294,0:294:99:0,883,10833:127
1	169513583	.	G	T	4390.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs6037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6037" target="_blank">rs6037</a>;ExAC.Info.AC=9106;ExAC.Info.AN=126702;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=8262;ExAC.Info.AC_Hom=416;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acA;snpeff.Amino_Acid_Change=p.Thr647Thr/c.1941C>A;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1926C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.1926C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169513583">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,35:69:99:891,0,971:127	0|0:87,0:87:99:0,261,3103:127	1|0:31,28:59:99:804,0,956:127
1	169515726	.	C	T	19191.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs6036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6036" target="_blank">rs6036</a>;ExAC.Info.AC=9167;ExAC.Info.AN=126704;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=8301;ExAC.Info.AC_Hom=432;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu572Glu/c.1716G>A;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1716G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.1716G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169515726">View</a>	GT:AD:DP:GQ:PL:TP	1|0:182,171:353:99:4704,0,5203:127	0|0:458,0:458:99:0,1376,15756:127	1|0:212,161:373:99:4144,0,6002:127
1	169519049	.	T	C	62086.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=827;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs6025;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6025" target="_blank">rs6025</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Thrombosis|_increased_risk;hgmd_2014.2.OMIM_ID=612309;hgmd_2014.2.PubMed=8164741;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=8164741" target="_blank">8164741</a>;ExAC.Info.AC=123977;ExAC.Info.AN=126692;ExAC.Info.AF=0.979;ExAC.Info.AC_Het=2619;ExAC.Info.AC_Hom=60613;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln534Arg/c.1601A>G;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1601A>G_p.Gln534Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.1601A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169519049">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,236:237:99:8123,706,0:127	1|1:0,308:308:99:10751,926,0:127	1|1:0,282:282:99:9926,847,0:127
1	169519894	.	G	A	20325.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs6015;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6015" target="_blank">rs6015</a>;ExAC.Info.AC=9138;ExAC.Info.AN=126702;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=8271;ExAC.Info.AC_Hom=428;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn460Asn/c.1380C>T;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1380C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.1380C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169519894">View</a>	GT:AD:DP:GQ:PL:TP	1|0:182,185:367:99:5077,0,5313:127	0|0:441,0:441:99:0,1325,15624:127	1|0:176,164:340:99:4786,0,5105:127
1	169521853	.	A	G	13504.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=781;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs6033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6033" target="_blank">rs6033</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Placental_abruption|_association_with;hgmd_2014.2.OMIM_ID=612309;hgmd_2014.2.PubMed=15450391;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15450391" target="_blank">15450391</a>;ExAC.Info.AC=9138;ExAC.Info.AN=126704;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=8269;ExAC.Info.AC_Hom=434;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met413Thr/c.1238T>C;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1238T>C_p.Met413Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.1238T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169521853">View</a>	GT:AD:DP:GQ:PL:TP	1|0:121,123:244:99:3355,0,3355:127	0|0:289,0:289:99:0,869,10100:127	1|0:138,110:248:99:3081,0,4191:127
1	169551682	.	T	C	7762.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=741;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Factor_V_deficiency|_227400_(3)|_{Thrombophilia|_susceptibility_to|_due_to_factor_V_Leiden}|_188055_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Budd-Chiari_syndrome}|_600880_(3)|_Thrombophilia_due_to_activated_protein_C_resistance|_188055_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_1}|_614389_(3);dbSNP139.ID=rs6028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6028" target="_blank">rs6028</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=36187;ExAC.Info.AN=126414;ExAC.Info.AF=0.286;ExAC.Info.AC_Het=24131;ExAC.Info.AC_Hom=5488;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln79Gln/c.237A>G;snpeff.Amino_Acid_length=2229;snpeff.Gene_Name=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367796;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367797;SAVANT_GENE=F5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5" target="_blank">F5</a>;SAVANT_INFO=-/72.4kb/25/7.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.237A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F5+c.237A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169551682">View</a>	GT:AD:DP:GQ:PL:TP	0|0:241,0:241:99:0,724,7749:127	0|1:130,131:261:99:3900,0,3535:127	0|0:239,0:239:99:0,718,8030:127
1	169560727	.	T	TA	787.25	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Platelet_alpha/delta_storage_pool_deficiency_(1)|_{Atopy|_susceptibility_to}|_147050_(3);dbSNP139.ID=rs35706397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35706397" target="_blank">rs35706397</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2408-33_2408-34insT;snpeff.Amino_Acid_length=830;snpeff.Gene_Name=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263686;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367790;SAVANT_GENE=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;SAVANT_INFO=-/41.3kb/17/3.2kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2408-34dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELP+c.2408-34dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169560727">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,824:70	0|1:21,24:45:99:411,0,382:70	0|0:32,1:33:71:0,71,741:70
1	169564167	.	G	C	4886.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=428;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Platelet_alpha/delta_storage_pool_deficiency_(1)|_{Atopy|_susceptibility_to}|_147050_(3);dbSNP139.ID=rs742127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=742127" target="_blank">rs742127</a>;ExAC.Info.AC=38251;ExAC.Info.AN=126388;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=23951;ExAC.Info.AC_Hom=5694;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2102-52C>G;snpeff.Amino_Acid_length=830;snpeff.Gene_Name=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263686;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367790;SAVANT_GENE=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;SAVANT_INFO=-/41.3kb/17/3.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2102-52C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELP+c.2102-52C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169564167">View</a>	GT:AD:DP:GQ:PL:TP	0|0:156,0:156:99:0,469,5906:127	0|1:64,73:137:99:2462,0,2041:127	0|0:135,0:135:99:0,406,5154:127
1	169566313	.	C	T	4824.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=501;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Platelet_alpha/delta_storage_pool_deficiency_(1)|_{Atopy|_susceptibility_to}|_147050_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6127" target="_blank">rs6127</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Higher_platelet_SELP_measures;hgmd_2014.2.OMIM_ID=173610;hgmd_2014.2.PubMed=19395438;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19395438" target="_blank">19395438</a>;ExAC.Info.AC=81027;ExAC.Info.AN=126686;ExAC.Info.AF=0.640;ExAC.Info.AC_Het=26521;ExAC.Info.AC_Hom=27180;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp603Asn/c.1807G>A;snpeff.Amino_Acid_length=830;snpeff.Gene_Name=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263686;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367790;SAVANT_GENE=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;SAVANT_INFO=-/41.3kb/17/3.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1807G>A_p.Asp603Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELP+c.1807G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169566313">View</a>	GT:AD:DP:GQ:PL:TP	0|0:157,0:157:99:0,472,5810:127	0|1:106,83:189:99:2431,0,3543:127	0|0:155,0:155:99:0,466,5776:127
1	169580717	.	T	C	16511.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=769;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Platelet_alpha/delta_storage_pool_deficiency_(1)|_{Atopy|_susceptibility_to}|_147050_(3);dbSNP139.ID=rs3917731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3917731" target="_blank">rs3917731</a>;ExAC.Info.AC=25418;ExAC.Info.AN=126676;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=19152;ExAC.Info.AC_Hom=3104;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1147+13A>G;snpeff.Amino_Acid_length=830;snpeff.Gene_Name=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263686;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367790;SAVANT_GENE=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;SAVANT_INFO=-/41.3kb/17/3.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1147+13A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELP+c.1147+13A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169580717">View</a>	GT:AD:DP:GQ:PL:TP	0|1:125,112:237:99:3007,0,3639:127	1|0:154,143:297:99:3969,0,4419:127	0|0:233,2:235:99:0,625,7888:127
1	169580972	.	C	CAT	3578.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=70.17;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Platelet_alpha/delta_storage_pool_deficiency_(1)|_{Atopy|_susceptibility_to}|_147050_(3);dbSNP139.ID=rs3917730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3917730" target="_blank">rs3917730</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.962-57_962-58insAT;snpeff.Amino_Acid_length=830;snpeff.Gene_Name=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263686;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367790;SAVANT_GENE=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;SAVANT_INFO=-/41.3kb/17/3.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.962-58_962-57insAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELP+c.962-58_962-57insAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169580972">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,15:33:99:576,0,726:123	1|0:27,21:48:99:786,0,1052:123	0|0:41,0:41:99:0,124,1837:123
1	169586281	.	C	T	9324.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=453;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Platelet_alpha/delta_storage_pool_deficiency_(1)|_{Atopy|_susceptibility_to}|_147050_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72712022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72712022" target="_blank">rs72712022</a>;ExAC.Info.AC=42;ExAC.Info.AN=126684;ExAC.Info.AF=3.315e-04;ExAC.Info.AC_Het=42;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala156Thr/c.466G>A;snpeff.Amino_Acid_length=830;snpeff.Gene_Name=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263686;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367790;SAVANT_GENE=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;SAVANT_INFO=-/41.3kb/17/3.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.466G>A_p.Ala156Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELP+c.466G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169586281">View</a>	GT:AD:DP:GQ:PL:TP	0|1:91,73:164:99:2038,0,2556:127	1|0:81,83:164:99:2463,0,2112:127	0|0:123,2:125:99:0,298,4168:127
1	169599254	.	T	C	14311.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=585;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Platelet_alpha/delta_storage_pool_deficiency_(1)|_{Atopy|_susceptibility_to}|_147050_(3);dbSNP139.ID=rs732314;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=732314" target="_blank">rs732314</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3+56A>G;snpeff.Amino_Acid_length=830;snpeff.Gene_Name=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263686;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367790;SAVANT_GENE=SELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELP" target="_blank">SELP</a>;SAVANT_INFO=-/41.3kb/17/3.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.3+56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELP+c.3+56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169599254">View</a>	GT:AD:DP:GQ:PL:TP	0|1:106,98:204:99:3010,0,3040:127	1|0:118,106:224:99:3016,0,3531:127	0|0:157,0:157:99:0,472,5412:127
1	169672595	.	GA	G	544.68	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs202128116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202128116" target="_blank">rs202128116</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C1orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf112" target="_blank">C1orf112</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.806-15delT;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=SELL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf112" target="_blank">C1orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236147;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.806delA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=SELL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf112" target="_blank">C1orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236147;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.806delA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=SELL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf112" target="_blank">C1orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236147;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.806delA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=SELL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf112" target="_blank">C1orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236147;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.806delA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=SELL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf112" target="_blank">C1orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236147;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.806delA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=SELL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf112" target="_blank">C1orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236147;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.806delA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=SELL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf112" target="_blank">C1orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236147;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.806delA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=SELL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf112" target="_blank">C1orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236147;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000236147;SAVANT_GENE=SELL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SELL" target="_blank">SELL</a>;SAVANT_INFO=-/21.0kb/9/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.806-15delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SELL+c.806-15delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169672595">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,6:45:8:8,0,762:8	0/1:52,12:64:91:91,0,1041:8	0/1:41,13:54:99:156,0,863:8
1	169890933	.	A	G	23675.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs518928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=518928" target="_blank">rs518928</a>;ExAC.Info.AC=117269;ExAC.Info.AN=126678;ExAC.Info.AF=0.926;ExAC.Info.AC_Het=8413;ExAC.Info.AC_Hom=53613;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2274-11T>C;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=KIFAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIFAP3" target="_blank">KIFAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361580;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361580;SAVANT_GENE=KIFAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIFAP3" target="_blank">KIFAP3</a>;SAVANT_INFO=-/153.4kb/20/3.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2274-11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIFAP3+c.2274-11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169890933">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:3125,259,0:127	1|1:0,101:101:99:3891,304,0:127	1|1:0,86:86:99:3073,258,0:127
1	169941761	.	A	T	5702.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs511443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=511443" target="_blank">rs511443</a>;ExAC.Info.AC=115780;ExAC.Info.AN=125376;ExAC.Info.AF=0.923;ExAC.Info.AC_Het=6883;ExAC.Info.AC_Hom=45758;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1898-22T>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=KIFAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIFAP3" target="_blank">KIFAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361580;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1898A>T;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=KIFAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIFAP3" target="_blank">KIFAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361580;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1898A>T;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=KIFAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIFAP3" target="_blank">KIFAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361580;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1898A>T;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=KIFAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIFAP3" target="_blank">KIFAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361580;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361580;SAVANT_GENE=KIFAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIFAP3" target="_blank">KIFAP3</a>;SAVANT_INFO=-/153.4kb/20/3.0kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1898-22T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIFAP3+c.1898-22T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169941761">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:824,75,0:74	1|1:0,25:25:75:781,75,0:74	1|1:0,36:36:99:1234,108,0:74
1	169951997	.	C	T	10985.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs33943686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33943686" target="_blank">rs33943686</a>;ExAC.Info.AC=37503;ExAC.Info.AN=126644;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=25162;ExAC.Info.AC_Hom=6061;snpeff.Effect=sequence_feature[repeat:ARM_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>T;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=KIFAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIFAP3" target="_blank">KIFAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361580;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1518C>T;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=KIFAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIFAP3" target="_blank">KIFAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361580;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly506Gly/c.1518G>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=KIFAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIFAP3" target="_blank">KIFAP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361580;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361580;SAVANT_GENE=KIFAP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIFAP3" target="_blank">KIFAP3</a>;SAVANT_INFO=-/153.4kb/20/3.0kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1518G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIFAP3+c.1518G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:169951997">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,39:80:99:1006,0,1259:127	0|1:60,41:101:99:1192,0,1769:127	1|1:0,91:91:99:3161,273,0:127
1	170135669	.	C	T	3695.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6427234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427234" target="_blank">rs6427234</a>;ExAC.Info.AC=8011;ExAC.Info.AN=33110;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=5051;ExAC.Info.AC_Hom=1115;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys119Cys/c.357C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=METTL11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL11B" target="_blank">METTL11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439373;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439373;SAVANT_GENE=METTL11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL11B" target="_blank">METTL11B</a>;SAVANT_INFO=+/21.8kb/4/1.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.357C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=METTL11B+c.357C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170135669">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,24:40:99:747,0,521:125	1|0:39,32:71:99:887,0,1145:125	0|0:42,0:42:99:0,126,1610:125
1	170135760	.	T	C	8169.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6427235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427235" target="_blank">rs6427235</a>;ExAC.Info.AC=7543;ExAC.Info.AN=29046;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=4901;ExAC.Info.AC_Hom=1059;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Ccc;snpeff.Amino_Acid_Change=p.Ser150Pro/c.448T>C;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=METTL11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL11B" target="_blank">METTL11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439373;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439373;SAVANT_GENE=METTL11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL11B" target="_blank">METTL11B</a>;SAVANT_INFO=+/21.8kb/4/1.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.448T>C_p.Ser150Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=METTL11B+c.448T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170135760">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,37:72:99:1418,0,1693:127	1|0:68,41:109:99:1527,0,3119:127	0|0:94,0:94:99:0,289,4922:127
1	170135765	.	T	C	8106.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6669514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6669514" target="_blank">rs6669514</a>;ExAC.Info.AC=6617;ExAC.Info.AN=29108;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=4477;ExAC.Info.AC_Hom=837;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe151Phe/c.453T>C;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=METTL11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL11B" target="_blank">METTL11B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439373;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439373;SAVANT_GENE=METTL11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL11B" target="_blank">METTL11B</a>;SAVANT_INFO=+/21.8kb/4/1.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.453T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=METTL11B+c.453T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170135765">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,36:72:99:1380,0,1729:127	1|0:68,42:110:99:1537,0,3076:127	0|0:93,0:93:99:0,280,4834:127
1	170501385	.	A	C	38879.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=479;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Geroderma_osteodysplasticum|_231070_(3);dbSNP139.ID=rs7531125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7531125" target="_blank">rs7531125</a>;ExAC.Info.AC=124180;ExAC.Info.AN=126704;ExAC.Info.AF=0.980;ExAC.Info.AC_Het=2082;ExAC.Info.AC_Hom=61047;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-576I22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-576I222" target="_blank">RP11-576I222</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly32Gly/c.96A>C;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-576I222" target="_blank">RP11-576I222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367763;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367763;SAVANT_GENE=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;SAVANT_INFO=+/21.3kb/5/2.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.96A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GORAB+c.96A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170501385">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:5189,444,0:127	1|1:0,177:177:99:6057,531,0:127	1|1:0,154:154:99:5471,463,0:127
1	170501456	.	C	T	3166.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Geroderma_osteodysplasticum|_231070_(3);dbSNP139.ID=rs11578119;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11578119" target="_blank">rs11578119</a>;ExAC.Info.AC=34133;ExAC.Info.AN=126686;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=22819;ExAC.Info.AC_Hom=5597;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-576I22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-576I222" target="_blank">RP11-576I222</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.136+31C>T;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-576I222" target="_blank">RP11-576I222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367763;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367763;SAVANT_GENE=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;SAVANT_INFO=+/21.3kb/5/2.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.136+31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GORAB+c.136+31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170501456">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,376,4405:127	0|0:157,0:157:99:0,471,5752:127	0|1:70,59:129:99:1602,0,2250:127
1	170508755	.	G	GT	4791.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Geroderma_osteodysplasticum|_231070_(3);dbSNP139.ID=rs141412003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141412003" target="_blank">rs141412003</a>;ExAC.Info.AC=30180;ExAC.Info.AN=126288;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=19927;ExAC.Info.AC_Hom=4874;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.494+48_494+49insT;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367763;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367763;SAVANT_GENE=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;SAVANT_INFO=+/21.3kb/5/2.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.494+53dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GORAB+c.494+53dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170508755">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,45:108:99:1081,0,1573:127	0|0:143,0:143:99:0,430,4316:127	1|0:33,47:80:99:1220,0,760:127
1	170521376	.	G	A	26740.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=527;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Geroderma_osteodysplasticum|_231070_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs913257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=913257" target="_blank">rs913257</a>;ExAC.Info.AC=68442;ExAC.Info.AN=126702;ExAC.Info.AF=0.540;ExAC.Info.AC_Het=29426;ExAC.Info.AC_Hom=19483;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_RCHY1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.958G>A;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367763;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_RCHY1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.958G>A;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367763;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.958G>A;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367763;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.958G>A;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367763;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.958G>A;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367763;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Aaa;snpeff.Amino_Acid_Change=p.Glu320Lys/c.958G>A;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367763;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367763;SAVANT_GENE=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;SAVANT_INFO=+/21.3kb/5/2.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.958G>A_p.Glu320Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GORAB+c.958G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170521376">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:5162,457,0:127	1|0:106,98:204:99:2889,0,2992:127	1|0:87,84:171:99:2434,0,2507:127
1	170521650	.	T	G	9276.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=864;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Geroderma_osteodysplasticum|_231070_(3);dbSNP139.ID=rs7552922;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7552922" target="_blank">rs7552922</a>;ExAC.Info.AC=19614;ExAC.Info.AN=126060;ExAC.Info.AF=0.156;ExAC.Info.AC_Het=15522;ExAC.Info.AC_Hom=1913;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=47;snpeff.Amino_Acid_Change=c.*47T>G;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367763;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367763;SAVANT_GENE=GORAB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB" target="_blank">GORAB</a>;SAVANT_INFO=+/21.3kb/5/2.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*47T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GORAB+c.*47T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170521650">View</a>	GT:AD:DP:GQ:PL:TP	0|0:256,0:256:99:0,769,8802:127	0|1:158,157:315:99:4657,0,4623:127	0|0:293,0:293:99:0,880,10329:127
1	170633229	.	C	CCTCTCTCTCTCTCTCTCT	670.16	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=49;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=130;snpeff.Amino_Acid_Change=c.-130_-131insCTCTCTCTCTCTCTCTCT;snpeff.Amino_Acid_length=245;snpeff.Gene_Name=PRRX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRX1" target="_blank">PRRX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239461;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000239461;SAVANT_GENE=PRRX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRX1" target="_blank">PRRX1</a>;SAVANT_INFO=+/75.5kb/4/4.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-129_-112dup18;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRX1+c.-129_-112dup18+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170633229">View</a>	GT:AD:DP:GQ:PL:TP	0|0:15,1:16:5:0,5,923:6	0|0:23,0:23:71:0,71,1599:6	0|1:6,4:10:99:149,0,443:6
1	170927564	.	A	ATTC	118.99	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=63;MQ=71.38;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73-37_73-36insTTC;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367759;SAVANT_GENE=C1orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf129" target="_blank">C1orf129</a>;SAVANT_INFO=+/129.3kb/22/3.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.73-32_73-30dupCTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf129+c.73-32_73-30dupCTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170927564">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,6:27:27:27,0,699:27	1|0:12,4:16:42:42,0,345:27	0|0:20,0:20:60:0,60,780:27
1	170927570	.	CT	C	189.78	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=81;MQ=71.17;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs374865486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374865486" target="_blank">rs374865486</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73-31delT;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367759;SAVANT_GENE=C1orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf129" target="_blank">C1orf129</a>;SAVANT_INFO=+/129.3kb/22/3.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.73-15delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf129+c.73-15delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170927570">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,1:31:69:0,69,1041:68	0|0:35,0:35:99:0,105,1373:68	0|1:7,8:15:99:118,0,115:68
1	170927571	.	T	TTC	87.57	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=75;MQ=71.24;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs200635156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200635156" target="_blank">rs200635156</a>;ExAC.Info.AC=3025;ExAC.Info.AN=48962;ExAC.Info.AF=0.062;ExAC.Info.AC_Het=1677;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73-30_73-29insTC;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367759;SAVANT_GENE=C1orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf129" target="_blank">C1orf129</a>;SAVANT_INFO=+/129.3kb/22/3.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.73-30_73-29insCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf129+c.73-30_73-29insCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170927571">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,7:32:74:74,0,664:66	1|0:17,4:21:31:31,0,318:66	0|0:22,0:22:67:0,67,818:66
1	170927572	.	T	TC	187.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=82;MQ=71.19;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35425940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35425940" target="_blank">rs35425940</a>;ExAC.Info.AC=21070;ExAC.Info.AN=96986;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=18130;ExAC.Info.AC_Hom=271;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73-29_73-28insC;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367759;SAVANT_GENE=C1orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf129" target="_blank">C1orf129</a>;SAVANT_INFO=+/129.3kb/22/3.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.73-30_73-29insC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf129+c.73-30_73-29insC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170927572">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,1:34:79:0,79,961:67	0|1:17,9:26:99:117,0,388:67	0|0:22,0:22:68:0,68,802:67
1	170927615	.	A	G	4667.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17563089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17563089" target="_blank">rs17563089</a>;ExAC.Info.AC=11099;ExAC.Info.AN=125142;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=9932;ExAC.Info.AC_Hom=571;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn29Ser/c.86A>G;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367759;SAVANT_GENE=C1orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf129" target="_blank">C1orf129</a>;SAVANT_INFO=+/129.3kb/22/3.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.86A>G_p.Asn29Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf129+c.86A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170927615">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,24:50:99:819,0,687:127	1|0:33,33:66:99:1001,0,1046:127	0|0:55,0:55:99:0,165,1969:127
1	170928671	.	T	C	3956.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2294740;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294740" target="_blank">rs2294740</a>;ExAC.Info.AC=26164;ExAC.Info.AN=125188;ExAC.Info.AF=0.209;ExAC.Info.AC_Het=18968;ExAC.Info.AC_Hom=3584;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTt/gCt;snpeff.Amino_Acid_Change=p.Val74Ala/c.221T>C;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367759;SAVANT_GENE=C1orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf129" target="_blank">C1orf129</a>;SAVANT_INFO=+/129.3kb/22/3.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.221T>C_p.Val74Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf129+c.221T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170928671">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,330,3485:127	0|1:59,66:125:99:1997,0,1628:127	0|0:123,0:123:99:0,369,4027:127
1	170931180	.	C	T	1408.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72710535;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72710535" target="_blank">rs72710535</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.375+63C>T;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376C>T;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376C>T;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367759;SAVANT_GENE=C1orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf129" target="_blank">C1orf129</a>;SAVANT_INFO=+/129.3kb/22/3.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.375+63C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf129+c.375+63C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170931180">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1458:62	0|1:17,23:40:99:723,0,491:62	0|0:21,0:21:63:0,63,792:62
1	170931197	.	A	G	2130.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17563350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17563350" target="_blank">rs17563350</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.375+80A>G;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376A>G;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376A>G;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367759;SAVANT_GENE=C1orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf129" target="_blank">C1orf129</a>;SAVANT_INFO=+/129.3kb/22/3.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.375+80A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf129+c.375+80A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170931197">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,15:34:99:483,0,537:63	1|0:14,15:29:99:434,0,437:63	0|0:21,0:21:63:0,63,718:63
1	170959029	.	C	T	12103.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=540;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs16863922;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16863922" target="_blank">rs16863922</a>;snpeff.Effect=sequence_feature[repeat:HEAT_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.913C>T;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.913C>T;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu305Leu/c.913C>T;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367759;SAVANT_GENE=C1orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf129" target="_blank">C1orf129</a>;SAVANT_INFO=+/129.3kb/22/3.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.913C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf129+c.913C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170959029">View</a>	GT:AD:DP:GQ:PL:TP	0|1:85,80:165:99:2279,0,2512:127	1|0:92,104:196:99:2931,0,2806:127	0|0:179,0:179:99:0,537,6351:127
1	170959088	.	C	T	11954.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=606;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs28634500;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28634500" target="_blank">rs28634500</a>;ExAC.Info.AC=24538;ExAC.Info.AN=125214;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=18625;ExAC.Info.AC_Hom=2937;snpeff.Effect=sequence_feature[repeat:HEAT_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972C>T;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972C>T;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys324Cys/c.972C>T;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367759;SAVANT_GENE=C1orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf129" target="_blank">C1orf129</a>;SAVANT_INFO=+/129.3kb/22/3.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.972C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf129+c.972C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170959088">View</a>	GT:AD:DP:GQ:PL:TP	0|1:96,89:185:99:2215,0,2853:127	1|0:109,106:215:99:2839,0,3199:127	0|0:206,0:206:99:0,619,7308:127
1	170965681	.	T	C	11735.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=509;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs9427213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9427213" target="_blank">rs9427213</a>;ExAC.Info.AC=14314;ExAC.Info.AN=125210;ExAC.Info.AF=0.114;ExAC.Info.AC_Het=12314;ExAC.Info.AC_Hom=992;snpeff.Effect=sequence_feature[repeat:HEAT_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1371T>C;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1371T>C;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn457Asn/c.1371T>C;snpeff.Amino_Acid_length=861;snpeff.Gene_Name=MROH9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MROH9" target="_blank">MROH9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367759;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367759;SAVANT_GENE=C1orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf129" target="_blank">C1orf129</a>;SAVANT_INFO=+/129.3kb/22/3.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1371T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf129+c.1371T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:170965681">View</a>	GT:AD:DP:GQ:PL:TP	0|1:80,86:166:99:2517,0,2223:127	1|0:96,84:180:99:2641,0,2792:127	0|0:163,0:163:99:0,490,5712:127
1	171061989	.	C	T	2298.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Trimethylaminuria|_602079_(3)|Trimethylaminuria|_602079_(3);dbSNP139.ID=rs4140653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4140653" target="_blank">rs4140653</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.132+58C>T;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367755;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367755;SAVANT_GENE=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;SAVANT_INFO=+/26.9kb/9/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.132+58C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO3+c.132+58C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171061989">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,328,4950:127	0|0:121,0:121:99:0,363,4039:127	0|1:53,39:92:99:1168,0,2837:127
1	171061990	.	A	G	15062.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Trimethylaminuria|_602079_(3)|Trimethylaminuria|_602079_(3);dbSNP139.ID=rs2064074;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2064074" target="_blank">rs2064074</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.132+59A>G;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367755;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367755;SAVANT_GENE=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;SAVANT_INFO=+/26.9kb/9/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.132+59A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO3+c.132+59A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171061990">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,59:110:99:1886,0,1355:127	1|1:0,114:114:99:3898,342,0:127	0|1:52,38:90:99:1461,0,1499:127
1	171076935	.	C	T	8404.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=902;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Trimethylaminuria|_602079_(3)|Trimethylaminuria|_602079_(3);dbSNP139.ID=rs1800822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800822" target="_blank">rs1800822</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Trimethylaminuria;hgmd_2014.2.OMIM_ID=136132;hgmd_2014.2.PubMed=16601883;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16601883" target="_blank">16601883</a>;ExAC.Info.AC=13497;ExAC.Info.AN=126694;ExAC.Info.AF=0.107;ExAC.Info.AC_Het=11151;ExAC.Info.AC_Hom=1163;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser147Ser/c.441C>T;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367755;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367755;SAVANT_GENE=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;SAVANT_INFO=+/26.9kb/9/2.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.441C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO3+c.441C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171076935">View</a>	GT:AD:DP:GQ:PL:TP	0|0:296,0:296:99:0,889,9799:127	0|0:329,0:329:99:0,988,11201:127	0|1:132,145:277:99:4221,0,3696:127
1	171076966	.	G	A	27451.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=814;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Trimethylaminuria|_602079_(3)|Trimethylaminuria|_602079_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2266782;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2266782" target="_blank">rs2266782</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Trimethylaminuria|_association_with;hgmd_2014.2.OMIM_ID=136132;hgmd_2014.2.PubMed=10479479;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10479479" target="_blank">10479479</a>;ExAC.Info.AC=48609;ExAC.Info.AN=126704;ExAC.Info.AF=0.384;ExAC.Info.AC_Het=29224;ExAC.Info.AC_Hom=9679;Clinvar.ClinicalSignificance=Pathogenic|risk_factor;Clinvar.RCVaccession=RCV000017711|RCV000020653;Clinvar.PhenotypeIDs=|GeneReviews:NBK1103|MedGen:C0342739|OMIM:602079|SNOMED_CT:237959005;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu158Lys/c.472G>A;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367755;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367755;SAVANT_GENE=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;SAVANT_INFO=+/26.9kb/9/2.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.472G>A_p.Glu158Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO3+c.472G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171076966">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017711%20OR%20RCV000020653" target="_blank">Pathogenic|risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0|1:141,114:255:99:2909,0,4282:127	1|1:0,304:304:99:9887,913,0:127	0|0:255,0:255:99:0,766,8906:127
1	171077198	.	G	A	19959.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=461;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Trimethylaminuria|_602079_(3)|Trimethylaminuria|_602079_(3);dbSNP139.ID=rs1920149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1920149" target="_blank">rs1920149</a>;ExAC.Info.AC=63863;ExAC.Info.AN=126684;ExAC.Info.AF=0.504;ExAC.Info.AC_Het=30851;ExAC.Info.AC_Hom=16460;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.485-22G>A;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367755;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367755;SAVANT_GENE=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;SAVANT_INFO=+/26.9kb/9/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.485-22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO3+c.485-22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171077198">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,71:148:99:1896,0,2280:127	1|1:0,169:169:99:5832,508,0:127	0|1:87,57:144:99:1606,0,2718:127
1	171077372	.	C	G	13297.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=598;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Trimethylaminuria|_602079_(3)|Trimethylaminuria|_602079_(3);dbSNP139.ID=rs2066534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066534" target="_blank">rs2066534</a>;ExAC.Info.AC=26991;ExAC.Info.AN=126672;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=20682;ExAC.Info.AC_Hom=3133;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.627+10C>G;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367755;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367755;SAVANT_GENE=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;SAVANT_INFO=+/26.9kb/9/2.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.627+10C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO3+c.627+10C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171077372">View</a>	GT:AD:DP:GQ:PL:TP	0|1:85,87:172:99:2521,0,2412:127	1|0:113,109:222:99:3334,0,3514:127	0|0:204,0:204:99:0,613,7029:127
1	171083174	.	C	T	10730.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=519;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Trimethylaminuria|_602079_(3)|Trimethylaminuria|_602079_(3);dbSNP139.ID=rs909530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=909530" target="_blank">rs909530</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=36490;ExAC.Info.AN=126672;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=25222;ExAC.Info.AC_Hom=5563;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn285Asn/c.855C>T;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367755;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367755;SAVANT_GENE=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;SAVANT_INFO=+/26.9kb/9/2.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.855C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO3+c.855C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171083174">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4822:127	0|1:113,104:217:99:3009,0,3284:127	0|1:84,81:165:99:2376,0,2557:127
1	171083242	.	A	G	8803.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=719;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Trimethylaminuria|_602079_(3)|Trimethylaminuria|_602079_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2266780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2266780" target="_blank">rs2266780</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Trimethylaminuria|_association_with;hgmd_2014.2.OMIM_ID=136132;hgmd_2014.2.PubMed=10479479;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10479479" target="_blank">10479479</a>;ExAC.Info.AC=19603;ExAC.Info.AN=126686;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=15897;ExAC.Info.AC_Hom=1845;Clinvar.ClinicalSignificance=Pathogenic|risk_factor;Clinvar.RCVaccession=RCV000017711|RCV000031948;Clinvar.PhenotypeIDs=|GeneReviews:NBK1103|MedGen:C0342739|OMIM:602079|SNOMED_CT:237959005;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu308Gly/c.923A>G;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367755;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367755;SAVANT_GENE=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;SAVANT_INFO=+/26.9kb/9/2.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.923A>G_p.Glu308Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO3+c.923A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171083242">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017711%20OR%20RCV000031948" target="_blank">Pathogenic|risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0|0:184,0:184:99:0,556,6332:127	0|1:143,143:286:99:4421,0,4122:127	0|0:249,0:249:99:0,748,8742:127
1	171083537	.	T	C	4414.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Trimethylaminuria|_602079_(3)|Trimethylaminuria|_602079_(3);dbSNP139.ID=rs909531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=909531" target="_blank">rs909531</a>;ExAC.Info.AC=22117;ExAC.Info.AN=126106;ExAC.Info.AF=0.175;ExAC.Info.AC_Het=14623;ExAC.Info.AC_Hom=1938;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1183+35T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367755;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367755;SAVANT_GENE=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;SAVANT_INFO=+/26.9kb/9/2.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1183+35T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO3+c.1183+35T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171083537">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,1:109:99:0,294,3899:127	0|1:81,81:162:99:2226,0,2503:127	0|0:97,0:97:99:0,292,3700:127
1	171085314	.	A	AT	9334.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=471;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Trimethylaminuria|_602079_(3)|Trimethylaminuria|_602079_(3);dbSNP139.ID=rs2066528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066528" target="_blank">rs2066528</a>;ExAC.Info.AC=36544;ExAC.Info.AN=126674;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=25245;ExAC.Info.AC_Hom=5587;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1184-33_1184-32insT;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367755;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367755;SAVANT_GENE=FMO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO3" target="_blank">FMO3</a>;SAVANT_INFO=+/26.9kb/9/2.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1184-32dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO3+c.1184-32dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171085314">View</a>	GT:AD:DP:GQ:PL:TP	0|0:165,1:166:99:0,464,5827:127	0|1:92,92:184:99:2694,0,2730:127	0|1:54,67:121:99:1998,0,1562:127
1	171115567	.	G	A	6240.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=634;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11812044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11812044" target="_blank">rs11812044</a>;ExAC.Info.AC=2516;ExAC.Info.AN=21824;ExAC.Info.AF=0.115;ExAC.Info.AC_Het=1892;ExAC.Info.AC_Hom=203;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys131Lys/c.393G>A;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=FMO6P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO6P" target="_blank">FMO6P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236166;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236166;SAVANT_GENE=FMO6P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO6P" target="_blank">FMO6P</a>;SAVANT_INFO=+/23.3kb/8/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.393G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO6P+c.393G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171115567">View</a>	GT:AD:DP:GQ:PL:TP	0|0:203,0:203:99:0,610,7018:127	0|1:122,113:235:99:3139,0,3569:127	0|0:196,0:196:99:0,589,6972:127
1	171115645	.	G	T	5520.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=504;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11812061;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11812061" target="_blank">rs11812061</a>;ExAC.Info.AC=2413;ExAC.Info.AN=20860;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=1859;ExAC.Info.AC_Hom=196;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acT;snpeff.Amino_Acid_Change=p.Thr157Thr/c.471G>T;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=FMO6P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO6P" target="_blank">FMO6P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236166;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236166;SAVANT_GENE=FMO6P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO6P" target="_blank">FMO6P</a>;SAVANT_INFO=+/23.3kb/8/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.471G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO6P+c.471G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171115645">View</a>	GT:AD:DP:GQ:PL:TP	0|0:163,0:163:99:0,489,5638:127	0|1:84,94:178:99:2779,0,2400:127	0|0:163,0:163:99:0,490,5822:127
1	171116760	.	C	T	3742.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7063044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7063044" target="_blank">rs7063044</a>;ExAC.Info.AC=2678;ExAC.Info.AN=22272;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=2029;ExAC.Info.AC_Hom=219;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.485-5C>T;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=FMO6P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO6P" target="_blank">FMO6P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236166;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485C>T;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=FMO6P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO6P" target="_blank">FMO6P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236166;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236166;SAVANT_GENE=FMO6P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO6P" target="_blank">FMO6P</a>;SAVANT_INFO=+/23.3kb/8/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.485-5C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO6P+c.485-5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171116760">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,321,3692:127	0|1:72,69:141:99:1890,0,2128:127	0|0:119,0:119:99:0,357,4174:127
1	171130236	.	G	A	5408.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61814301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61814301" target="_blank">rs61814301</a>;ExAC.Info.AC=1290;ExAC.Info.AN=24722;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=1081;ExAC.Info.AC_Hom=40;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=33;snpeff.Amino_Acid_Change=c.*33G>A;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=FMO6P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO6P" target="_blank">FMO6P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236166;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236166;SAVANT_GENE=FMO6P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO6P" target="_blank">FMO6P</a>;SAVANT_INFO=+/23.3kb/8/1.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1321G>A_p.Val441Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO6P+c.1321G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171130236">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,40:64:99:1148,0,741:127	1|0:43,40:83:99:1129,0,1308:127	0|0:81,0:81:99:0,244,3026:127
1	171130346	.	G	A	7239.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs16864125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16864125" target="_blank">rs16864125</a>;ExAC.Info.AC=3195;ExAC.Info.AN=55758;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=1822;ExAC.Info.AC_Hom=171;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=143;snpeff.Amino_Acid_Change=c.*143G>A;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=FMO6P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO6P" target="_blank">FMO6P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236166;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236166;SAVANT_GENE=FMO6P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO6P" target="_blank">FMO6P</a>;SAVANT_INFO=+/23.3kb/8/1.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1431G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO6P+c.1431G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171130346">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,32:86:99:880,0,1725:127	1|0:72,53:125:99:1444,0,2188:127	0|0:97,0:97:99:0,291,3554:127
1	171168584	.	C	T	36906.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=954;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2020862;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2020862" target="_blank">rs2020862</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=FMO2_variant;hgmd_2014.2.OMIM_ID=603955;hgmd_2014.2.PubMed=12527699;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12527699" target="_blank">12527699</a>;ExAC.Info.AC=49948;ExAC.Info.AN=126694;ExAC.Info.AF=0.394;ExAC.Info.AC_Het=28737;ExAC.Info.AC_Hom=10550;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.457G>A;snpeff.Gene_Name=RP1-127D3.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-127D34" target="_blank">RP1-127D34</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422841;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.584C>T;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=FMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-127D34" target="_blank">RP1-127D34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000209929;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCa/tTa;snpeff.Amino_Acid_Change=p.Ser195Leu/c.584C>T;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=FMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-127D34" target="_blank">RP1-127D34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000209929;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441535;SAVANT_GENE=FMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO2" target="_blank">FMO2</a>;SAVANT_INFO=+/27.4kb/10/5.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.584C>T_p.Ser195Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO2+c.584C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171168584">View</a>	GT:AD:DP:GQ:PL:TP	0/1:157,155:312:99:5987,0,8116:127	0/1:183,176:359:99:6821,0,10112:127	0/1:144,139:283:99:5394,0,7500:127
1	171168585	.	A	G	36906.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=947;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2020861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2020861" target="_blank">rs2020861</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=63324;ExAC.Info.AN=126692;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=29808;ExAC.Info.AC_Hom=16700;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.456T>C;snpeff.Gene_Name=RP1-127D3.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-127D34" target="_blank">RP1-127D34</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422841;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=FMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-127D34" target="_blank">RP1-127D34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000209929;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser195Ser/c.585A>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=FMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-127D34" target="_blank">RP1-127D34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000209929;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441535;SAVANT_GENE=FMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO2" target="_blank">FMO2</a>;SAVANT_INFO=+/27.4kb/10/5.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.585A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO2+c.585A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171168585">View</a>	GT:AD:DP:GQ:PL:TP	0/1:157,152:309:99:5987,0,8116:127	0/1:180,174:354:99:6821,0,10112:127	0/1:145,139:284:99:5394,0,7500:127
1	171174531	.	A	G	13438.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=605;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2020863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2020863" target="_blank">rs2020863</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=16681;ExAC.Info.AN=126664;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=13570;ExAC.Info.AC_Hom=1539;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.289-1404T>C;snpeff.Gene_Name=RP1-127D3.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-127D34" target="_blank">RP1-127D34</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422841;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu314Gly/c.941A>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=FMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-127D34" target="_blank">RP1-127D34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000209929;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441535;SAVANT_GENE=FMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO2" target="_blank">FMO2</a>;SAVANT_INFO=+/27.4kb/10/5.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.941A>G_p.Glu314Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO2+c.941A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171174531">View</a>	GT:AD:DP:GQ:PL:TP	0|1:96,91:187:99:2716,0,2667:127	1|0:114,119:233:99:3459,0,3255:127	0|0:185,0:185:99:0,556,6601:127
1	171178257	.	C	CT	5041.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2234889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234889" target="_blank">rs2234889</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.289-5130_289-5131insA;snpeff.Gene_Name=RP1-127D3.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-127D34" target="_blank">RP1-127D34</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422841;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=166;snpeff.Amino_Acid_Change=c.*166_*167insT;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=FMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-127D34" target="_blank">RP1-127D34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000209929;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000441535;SAVANT_GENE=FMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO2" target="_blank">FMO2</a>;SAVANT_INFO=+/27.4kb/10/5.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*172dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO2+c.*172dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171178257">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,48:97:99:1171,0,1161:127	1|0:49,56:105:99:1391,0,1137:127	0|0:78,0:78:99:0,235,2300:127
1	171217691	.	C	A	9666.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12720462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12720462" target="_blank">rs12720462</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_promoter_activity;hgmd_2014.2.OMIM_ID=136130;hgmd_2014.2.PubMed=12829732;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12829732" target="_blank">12829732</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO1" target="_blank">FMO1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.273-829G>T;snpeff.Gene_Name=RP1-45C12.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO1" target="_blank">FMO1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000455124;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO1" target="_blank">FMO1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171217691">View</a>	GT:AD:DP:GQ:PL:TP	0|1:103,71:174:99:1732,0,2906:127	1|0:100,90:190:99:2222,0,2904:127	0|0:161,0:161:99:0,484,5630:127
1	171227216	.	T	C	12885.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs10912675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10912675" target="_blank">rs10912675</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Nicotine_dependence|_association_with;hgmd_2014.2.OMIM_ID=136130;hgmd_2014.2.PubMed=21540762;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21540762" target="_blank">21540762</a>;ExAC.Info.AC=40506;ExAC.Info.AN=126704;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=25522;ExAC.Info.AC_Hom=7460;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=11;snpeff.Amino_Acid_Change=c.-11T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO1" target="_blank">FMO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354841;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354841;SAVANT_GENE=FMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO1" target="_blank">FMO1</a>;SAVANT_INFO=+/28.0kb/8/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-11T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO1+c.-11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171227216">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,67:126:99:2087,0,1593:127	0|0:155,0:155:99:0,465,5248:127	1|1:0,104:104:99:3683,313,0:127
1	171254794	.	C	T	25829.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=813;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs12954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12954" target="_blank">rs12954</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=111;snpeff.Amino_Acid_Change=c.*111C>T;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO1" target="_blank">FMO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354841;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354841;SAVANT_GENE=FMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO1" target="_blank">FMO1</a>;SAVANT_INFO=+/28.0kb/8/2.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*111C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO1+c.*111C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171254794">View</a>	GT:AD:DP:GQ:PL:TP	1|0:134,103:237:99:2698,0,4057:127	0|0:302,0:302:99:0,907,11330:127	1|1:0,274:274:99:9342,824,0:127
1	171254890	.	C	T	24556.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=830;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7877" target="_blank">rs7877</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Nicotine_dependence|_association_with;hgmd_2014.2.OMIM_ID=136130;hgmd_2014.2.PubMed=21540762;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21540762" target="_blank">21540762</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=207;snpeff.Amino_Acid_Change=c.*207C>T;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=FMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO1" target="_blank">FMO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354841;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354841;SAVANT_GENE=FMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO1" target="_blank">FMO1</a>;SAVANT_INFO=+/28.0kb/8/2.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*207C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO1+c.*207C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171254890">View</a>	GT:AD:DP:GQ:PL:TP	1|0:130,120:250:99:3247,0,3800:127	0|0:338,0:338:99:0,1016,12190:127	1|1:0,242:242:99:8376,727,0:127
1	171300959	.	T	C	20220.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=580;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2294482;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294482" target="_blank">rs2294482</a>;ExAC.Info.AC=33502;ExAC.Info.AN=126676;ExAC.Info.AF=0.264;ExAC.Info.AC_Het=23200;ExAC.Info.AC_Hom=5134;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.627+38T>C;snpeff.Amino_Acid_length=558;snpeff.Gene_Name=FMO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO4" target="_blank">FMO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367749;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367749;SAVANT_GENE=FMO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO4" target="_blank">FMO4</a>;SAVANT_INFO=+/27.9kb/10/2.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.627+38T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO4+c.627+38T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171300959">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,107:189:99:2990,0,2245:127	0|0:211,1:212:99:0,600,7386:127	1|1:0,179:179:99:6452,538,0:127
1	171303836	.	G	A	10817.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=495;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs45599742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45599742" target="_blank">rs45599742</a>;ExAC.Info.AC=306;ExAC.Info.AN=126684;ExAC.Info.AF=2.415e-03;ExAC.Info.AC_Het=306;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly372Ser/c.1114G>A;snpeff.Amino_Acid_length=558;snpeff.Gene_Name=FMO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO4" target="_blank">FMO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367749;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367749;SAVANT_GENE=FMO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO4" target="_blank">FMO4</a>;SAVANT_INFO=+/27.9kb/10/2.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1114G>A_p.Gly372Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO4+c.1114G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171303836">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,84:156:99:2462,0,1940:127	0|0:190,0:190:99:0,570,6372:127	1|0:68,81:149:99:2368,0,1721:127
1	171303925	.	C	T	16516.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=502;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3820170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820170" target="_blank">rs3820170</a>;ExAC.Info.AC=58535;ExAC.Info.AN=125668;ExAC.Info.AF=0.466;ExAC.Info.AC_Het=27696;ExAC.Info.AC_Hom=13223;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1180+23C>T;snpeff.Amino_Acid_length=558;snpeff.Gene_Name=FMO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO4" target="_blank">FMO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367749;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367749;SAVANT_GENE=FMO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO4" target="_blank">FMO4</a>;SAVANT_INFO=+/27.9kb/10/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1180+23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO4+c.1180+23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171303925">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,82:132:99:2304,0,1404:127	0|0:208,0:208:99:0,625,7179:127	1|1:0,162:162:99:5368,487,0:127
1	171311003	.	A	C	15608.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1042772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1042772" target="_blank">rs1042772</a>;ExAC.Info.AC=63818;ExAC.Info.AN=126230;ExAC.Info.AF=0.506;ExAC.Info.AC_Het=29029;ExAC.Info.AC_Hom=15455;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=25;snpeff.Amino_Acid_Change=c.*25A>C;snpeff.Amino_Acid_length=558;snpeff.Gene_Name=FMO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO4" target="_blank">FMO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367749;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367749;SAVANT_GENE=FMO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMO4" target="_blank">FMO4</a>;SAVANT_INFO=+/27.9kb/10/2.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*25A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMO4+c.*25A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171311003">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,69:142:99:2079,0,2024:127	0|0:223,0:223:99:0,670,7458:127	1|1:0,135:135:99:4821,406,0:127
1	171482616	.	A	C	3324.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2294291;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294291" target="_blank">rs2294291</a>;ExAC.Info.AC=1415;ExAC.Info.AN=17966;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=1028;ExAC.Info.AC_Hom=95;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.290+305A>C;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.284+305A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.284+305A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171482616">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,280,3305:127	0|1:76,62:138:99:1681,0,2372:127	0|0:97,0:97:99:0,292,3585:127
1	171483662	.	AT	A	3518.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs200071125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200071125" target="_blank">rs200071125</a>;ExAC.Info.AC=313;ExAC.Info.AN=105992;ExAC.Info.AF=2.953e-03;ExAC.Info.AC_Het=205;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.291-12delT;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.285-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.285-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171483662">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,18:46:99:365,0,675:127	0|0:79,2:81:99:0,186,2229:127	1|0:37,31:68:99:684,0,870:127
1	171486912	.	G	A	1000.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10913157;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10913157" target="_blank">rs10913157</a>;ExAC.Info.AC=17352;ExAC.Info.AN=126384;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=14789;ExAC.Info.AC_Hom=1261;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala237Thr/c.709G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.703G>A_p.Ala235Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.703G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171486912">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,1085:53	0|1:13,17:30:99:519,0,402:53	0|0:18,0:18:54:0,54,747:53
1	171509327	.	G	A	29341.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=465;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs760644;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=760644" target="_blank">rs760644</a>;cosmic68.Histology_subtype=ductal_carcinoma;ExAC.Info.AC=103273;ExAC.Info.AN=126366;ExAC.Info.AF=0.817;ExAC.Info.AC_Het=18400;ExAC.Info.AC_Hom=42367;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala908Thr/c.2722G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2716G>A_p.Ala906Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.2716G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171509327">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,130:131:99:4456,384,0:127	1|1:0,166:166:99:5794,498,0:127	1|0:94,74:168:99:2044,0,2746:127
1	171511039	.	C	G	37838.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=614;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1687064;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1687064" target="_blank">rs1687064</a>;ExAC.Info.AC=103509;ExAC.Info.AN=126364;ExAC.Info.AF=0.819;ExAC.Info.AC_Het=18160;ExAC.Info.AC_Hom=42400;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcG;snpeff.Amino_Acid_Change=p.Ser1478Ser/c.4434C>G;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.4428C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.4428C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171511039">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,211:211:99:7120,634,0:127	1|1:0,206:206:99:7129,619,0:127	1|0:112,85:197:99:2355,0,3105:127
1	171514731	.	C	G	22837.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs235468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=235468" target="_blank">rs235468</a>;ExAC.Info.AC=102934;ExAC.Info.AN=126264;ExAC.Info.AF=0.815;ExAC.Info.AC_Het=17763;ExAC.Info.AC_Hom=40406;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCt/tGt;snpeff.Amino_Acid_Change=p.Ser1626Cys/c.4877C>G;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.4871C>G_p.Ser1624Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.4871C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171514731">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3455,286,0:127	1|1:0,131:131:99:4825,393,0:127	1|0:29,28:57:99:797,0,959:127
1	171526570	.	G	A	43401.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=621;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1687057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1687057" target="_blank">rs1687057</a>;ExAC.Info.AC=24244;ExAC.Info.AN=29424;ExAC.Info.AF=0.824;ExAC.Info.AC_Het=3435;ExAC.Info.AC_Hom=9113;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5319G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro1773Pro/c.5319G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.5313G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.5313G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171526570">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,182:182:99:6298,547,0:127	1|1:0,255:255:99:9097,766,0:127	1|0:99,85:184:99:2508,0,2795:127
1	171526910	.	G	A	3295.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12025905;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12025905" target="_blank">rs12025905</a>;ExAC.Info.AC=3278;ExAC.Info.AN=35604;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=2438;ExAC.Info.AC_Hom=198;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5659G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala1887Thr/c.5659G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.5653G>A_p.Ala1885Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.5653G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171526910">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,23:38:99:569,0,388:127	0|0:72,0:72:99:0,216,2559:127	1|0:16,17:33:99:489,0,419:127
1	171535573	.	T	C	2540.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2038041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2038041" target="_blank">rs2038041</a>;ExAC.Info.AC=12487;ExAC.Info.AN=118128;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=4521;ExAC.Info.AC_Hom=422;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6306+13T>C;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.6300+13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.6300+13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171535573">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2394:127	0|1:43,39:82:99:1289,0,1182:127	0|0:92,0:92:99:0,276,3074:127
1	171548617	.	G	A	29466.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=703;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3817772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3817772" target="_blank">rs3817772</a>;ExAC.Info.AC=39935;ExAC.Info.AN=126358;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=25719;ExAC.Info.AC_Hom=6936;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7272+12G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7273G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7273G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7273G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7273G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7273G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7273G>A;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.7266+12G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.7266+12G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171548617">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,235:235:99:7599,706,0:127	1|0:158,105:263:99:2702,0,4860:127	1|0:98,107:205:99:2907,0,2948:127
1	171556165	.	G	C	22339.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs235501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=235501" target="_blank">rs235501</a>;ExAC.Info.AC=102139;ExAC.Info.AN=126258;ExAC.Info.AF=0.809;ExAC.Info.AC_Het=17683;ExAC.Info.AC_Hom=38555;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7773G>C;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7773G>C;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7773G>C;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7773G>C;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7773G>C;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7773G>C;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcC;snpeff.Amino_Acid_Change=p.Ser2591Ser/c.7773G>C;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.7767G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.7767G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171556165">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4281,399,0:127	1|1:0,103:103:99:3541,309,0:127	1|0:64,55:119:99:1472,0,1706:127
1	171558516	.	C	T	10373.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs235503;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=235503" target="_blank">rs235503</a>;ExAC.Info.AC=13220;ExAC.Info.AN=16190;ExAC.Info.AF=0.817;ExAC.Info.AC_Het=1741;ExAC.Info.AC_Hom=4928;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser2736Ser/c.8208C>T;snpeff.Amino_Acid_length=2898;snpeff.Gene_Name=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392078;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338920;SAVANT_GENE=PRRC2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRC2C" target="_blank">PRRC2C</a>;SAVANT_INFO=+/108.0kb/34/10.4kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.8193+872C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRC2C+c.8193+872C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171558516">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1714,150,0:127	1|1:0,55:55:99:1854,164,0:127	1|0:27,20:47:99:603,0,891:127
1	171605387	.	T	C	15783.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=725;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Glaucoma_1A|_primary_open_angle|_137750_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56314834;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56314834" target="_blank">rs56314834</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Glaucoma_1|_open_angle;hgmd_2014.2.OMIM_ID=601652;hgmd_2014.2.PubMed=11004290;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11004290" target="_blank">11004290</a>;ExAC.Info.AC=405;ExAC.Info.AN=126704;ExAC.Info.AF=3.196e-03;ExAC.Info.AC_Het=403;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1193T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=MYOC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOC" target="_blank">MYOC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000037502;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Olfactomedin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1193T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=MYOC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOC" target="_blank">MYOC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000037502;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Olfactomedin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1193T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=MYOC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOC" target="_blank">MYOC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000037502;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys398Arg/c.1193A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=MYOC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOC" target="_blank">MYOC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000037502;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000037502;SAVANT_GENE=MYOC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOC" target="_blank">MYOC</a>;SAVANT_INFO=-/17.3kb/3/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1193A>G_p.Lys398Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOC+c.1193A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171605387">View</a>	GT:AD:DP:GQ:PL:TP	1|0:124,116:240:99:3495,0,3121:127	0|0:280,1:281:99:0,800,9664:127	1|0:115,89:204:99:2644,0,3405:127
1	171607702	.	C	T	14804.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Glaucoma_1A|_primary_open_angle|_137750_(3);dbSNP139.ID=rs2032555;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2032555" target="_blank">rs2032555</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Glaucoma_1|_open_angle|_association_with;hgmd_2014.2.OMIM_ID=601652;hgmd_2014.2.PubMed=16863615;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16863615" target="_blank">16863615</a>;ExAC.Info.AC=92291;ExAC.Info.AN=126700;ExAC.Info.AF=0.728;ExAC.Info.AC_Het=24165;ExAC.Info.AC_Hom=34041;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.730+35G>A;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=MYOC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOC" target="_blank">MYOC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000037502;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Olfactomedin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.731C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=MYOC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOC" target="_blank">MYOC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000037502;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Olfactomedin-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.731C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=MYOC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOC" target="_blank">MYOC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000037502;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000037502;SAVANT_GENE=MYOC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOC" target="_blank">MYOC</a>;SAVANT_INFO=-/17.3kb/3/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.730+35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOC+c.730+35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171607702">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2097,198,0:127	1|1:0,88:88:99:3011,264,0:127	1|0:39,29:68:99:809,0,1180:127
1	171679958	.	G	A	1482.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10913530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10913530" target="_blank">rs10913530</a>;ExAC.Info.AC=39662;ExAC.Info.AN=126664;ExAC.Info.AF=0.313;ExAC.Info.AC_Het=26254;ExAC.Info.AC_Hom=6674;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.165-4C>T;snpeff.Amino_Acid_length=141;snpeff.Gene_Name=VAMP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAMP4" target="_blank">VAMP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236192;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165C>T;snpeff.Amino_Acid_length=141;snpeff.Gene_Name=VAMP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAMP4" target="_blank">VAMP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236192;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236192;SAVANT_GENE=VAMP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAMP4" target="_blank">VAMP4</a>;SAVANT_INFO=-/42.1kb/8/5.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.165-4C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAMP4+c.165-4C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171679958">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2449:127	0|1:38,28:66:99:760,0,1116:127	0|0:61,0:61:99:0,183,2246:127
1	171751051	.	A	G	9855.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2294719;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294719" target="_blank">rs2294719</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=57;snpeff.Amino_Acid_Change=c.-57A>G;snpeff.Amino_Acid_length=699;snpeff.Gene_Name=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361735;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361735;SAVANT_GENE=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;SAVANT_INFO=+/16.0kb/8/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-57A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=METTL13+c.-57A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171751051">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,32:61:99:881,0,819:127	1|1:0,92:92:99:3270,276,0:127	0|0:71,0:71:99:0,213,2548:127
1	171751236	.	T	C	6308.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2294720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294720" target="_blank">rs2294720</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=59771;ExAC.Info.AN=126704;ExAC.Info.AF=0.472;ExAC.Info.AC_Het=29804;ExAC.Info.AC_Hom=14980;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His43His/c.129T>C;snpeff.Amino_Acid_length=699;snpeff.Gene_Name=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361735;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361735;SAVANT_GENE=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;SAVANT_INFO=+/16.0kb/8/3.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.129T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=METTL13+c.129T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171751236">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,26:43:99:832,0,403:123	1|1:0,56:56:99:2062,168,0:123	0|0:41,0:41:99:0,123,1349:123
1	171753039	.	A	G	1962.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2232816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232816" target="_blank">rs2232816</a>;ExAC.Info.AC=36344;ExAC.Info.AN=126704;ExAC.Info.AF=0.287;ExAC.Info.AC_Het=24829;ExAC.Info.AC_Hom=5756;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met105Val/c.313A>G;snpeff.Amino_Acid_length=699;snpeff.Gene_Name=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361735;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361735;SAVANT_GENE=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;SAVANT_INFO=+/16.0kb/8/3.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.313A>G_p.Met105Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=METTL13+c.313A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171753039">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,1:99:99:0,261,3161:127	0|1:52,36:88:99:1000,0,1598:127	0|0:79,0:79:99:0,237,2746:127
1	171755170	.	G	A	2266.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2232818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232818" target="_blank">rs2232818</a>;ExAC.Info.AC=36663;ExAC.Info.AN=126700;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=24901;ExAC.Info.AC_Hom=5734;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser355Ser/c.1065G>A;snpeff.Amino_Acid_length=699;snpeff.Gene_Name=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361735;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361735;SAVANT_GENE=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;SAVANT_INFO=+/16.0kb/8/3.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1065G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=METTL13+c.1065G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171755170">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2478:127	0|1:43,39:82:99:1152,0,1219:127	0|0:80,0:80:99:0,240,2709:127
1	171755182	.	G	A	5107.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2232819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232819" target="_blank">rs2232819</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=19079;ExAC.Info.AN=126702;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=15834;ExAC.Info.AC_Hom=1556;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atA;snpeff.Amino_Acid_Change=p.Met359Ile/c.1077G>A;snpeff.Amino_Acid_length=699;snpeff.Gene_Name=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361735;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361735;SAVANT_GENE=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;SAVANT_INFO=+/16.0kb/8/3.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1077G>A_p.Met359Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=METTL13+c.1077G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171755182">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,43:71:99:1189,0,728:127	1|0:37,38:75:99:1090,0,1134:127	0|0:71,0:71:99:0,213,2540:127
1	171763549	.	C	T	9685.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2232825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232825" target="_blank">rs2232825</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=21080;ExAC.Info.AN=126702;ExAC.Info.AF=0.166;ExAC.Info.AC_Het=17250;ExAC.Info.AC_Hom=1904;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr569Tyr/c.1707C>T;snpeff.Amino_Acid_length=699;snpeff.Gene_Name=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361735;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361735;SAVANT_GENE=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;SAVANT_INFO=+/16.0kb/8/3.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1707C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=METTL13+c.1707C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171763549">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,66:124:99:1870,0,1752:127	1|0:64,81:145:99:2277,0,1976:127	0|0:128,0:128:99:0,384,4629:127
1	171765591	.	G	A	3220.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2232826;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232826" target="_blank">rs2232826</a>;ExAC.Info.AC=35920;ExAC.Info.AN=126674;ExAC.Info.AF=0.284;ExAC.Info.AC_Het=24647;ExAC.Info.AC_Hom=5593;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1826-31G>A;snpeff.Amino_Acid_length=699;snpeff.Gene_Name=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361735;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361735;SAVANT_GENE=METTL13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL13" target="_blank">METTL13</a>;SAVANT_INFO=+/16.0kb/8/3.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1826-31G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=METTL13+c.1826-31G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171765591">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,351,4100:127	0|1:74,57:131:99:1629,0,2367:127	0|0:95,0:95:99:0,285,3390:127
1	171956803	.	C	T	4734.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3736790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736790" target="_blank">rs3736790</a>;ExAC.Info.AC=25735;ExAC.Info.AN=124824;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=18115;ExAC.Info.AC_Hom=3756;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243C>T;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala81Ala/c.243C>T;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358155;SAVANT_GENE=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;SAVANT_INFO=+/571.2kb/21/7.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.243C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNM3+c.243C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:171956803">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,351,4049:127	0|1:107,84:191:99:2386,0,3185:127	0|0:148,0:148:99:0,445,5480:127
1	172038079	.	T	C	5975.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12760234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12760234" target="_blank">rs12760234</a>;ExAC.Info.AC=24483;ExAC.Info.AN=95008;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=6301;ExAC.Info.AC_Hom=2003;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1422+34T>C;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358155;SAVANT_GENE=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;SAVANT_INFO=+/571.2kb/21/7.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1422+34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNM3+c.1422+34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172038079">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,41:76:99:1304,0,1037:127	1|0:42,40:82:99:1325,0,1245:127	0|0:65,0:65:99:0,195,2403:127
1	172100831	.	G	A	3666.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2421987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2421987" target="_blank">rs2421987</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1689+403G>A;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690G>A;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690G>A;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690G>A;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690G>A;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690G>A;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358155;SAVANT_GENE=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;SAVANT_INFO=+/571.2kb/21/7.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1659+403G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNM3+c.1659+403G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172100831">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2209:127	0|1:39,33:72:99:947,0,1259:127	0|1:41,31:72:99:906,0,1203:127
1	172277845	.	AT	A	272.49	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs200321314;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200321314" target="_blank">rs200321314</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1800-22delT;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800delT;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800delT;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800delT;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800delT;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800delT;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000358155;SAVANT_GENE=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;SAVANT_INFO=+/571.2kb/21/7.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1770-9delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNM3+c.1770-9delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172277845">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,2:35:50:0,50,740:3	0|1:48,7:55:1:1,0,1052:3	0|1:36,6:42:31:31,0,790:3
1	172308238	.	C	T	7142.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6697844;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6697844" target="_blank">rs6697844</a>;ExAC.Info.AC=44720;ExAC.Info.AN=115124;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=16565;ExAC.Info.AC_Hom=7056;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1911+30259C>T;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358155;SAVANT_GENE=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;SAVANT_INFO=+/571.2kb/21/7.6kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1893+15758C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNM3+c.1893+15758C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172308238">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,40:74:99:1120,0,988:127	0/1:49,47:96:99:1190,0,1585:127	0/1:45,40:85:99:1144,0,1337:127
1	172356437	.	A	G	15208.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6688654;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6688654" target="_blank">rs6688654</a>;ExAC.Info.AC=124012;ExAC.Info.AN=125022;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=997;ExAC.Info.AC_Hom=61349;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PIGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGC" target="_blank">PIGC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GED];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2241A>G;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGC" target="_blank">PIGC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GED];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2241A>G;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGC" target="_blank">PIGC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr747Thr/c.2241A>G;snpeff.Amino_Acid_length=869;snpeff.Gene_Name=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGC" target="_blank">PIGC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355305;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358155;SAVANT_GENE=DNM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNM3" target="_blank">DNM3</a>;SAVANT_INFO=+/571.2kb/21/7.6kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2223A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNM3+c.2223A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172356437">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2386,187,0:125	1|1:0,65:65:99:2536,196,0:125	1|1:0,42:42:99:1675,126,0:125
1	172410967	.	G	A	6661.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1063412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1063412" target="_blank">rs1063412</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.22-3246G>A;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=C1orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf105" target="_blank">C1orf105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367727;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Tca;snpeff.Amino_Acid_Change=p.Pro266Ser/c.796C>T;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=PIGC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf105" target="_blank">C1orf105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344529;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367728:ENST00000367727;SAVANT_GENE=PIGC:C1orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGC:C1orf105" target="_blank">PIGC:C1orf105</a>;SAVANT_INFO=-/2.6kb/1/2.6kb:+/48.1kb/7/1.0kb;SAVANT_LOC=Ex1:In1/2;SAVANT_HGVS=c.796C>T_p.Pro266Ser:c.22-3246G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIGC:C1orf105+c.796C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172410967">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,40:73:99:1041,0,901:127	0/1:34,34:68:99:951,0,1017:127	0/1:35,37:72:99:1057,0,1135:127
1	172425529	.	C	G	13363.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2285170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2285170" target="_blank">rs2285170</a>;ExAC.Info.AC=62258;ExAC.Info.AN=126700;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=29528;ExAC.Info.AC_Hom=16282;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.199-26C>G;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=C1orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf105" target="_blank">C1orf105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367727;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367727;SAVANT_GENE=C1orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf105" target="_blank">C1orf105</a>;SAVANT_INFO=+/48.1kb/7/1.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.199-26C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf105+c.199-26C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172425529">View</a>	GT:AD:DP:GQ:PL:TP	0/1:72,54:126:99:1459,0,2069:127	0/1:73,84:157:99:2532,0,1991:127	0/1:63,51:114:99:1265,0,1803:127
1	172434812	.	C	T	12808.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2901656;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2901656" target="_blank">rs2901656</a>;ExAC.Info.AC=7762;ExAC.Info.AN=20912;ExAC.Info.AF=0.371;ExAC.Info.AC_Het=3003;ExAC.Info.AC_Hom=1260;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.406+309C>T;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=C1orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf105" target="_blank">C1orf105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367727;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367727;SAVANT_GENE=C1orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf105" target="_blank">C1orf105</a>;SAVANT_INFO=+/48.1kb/7/1.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.406+309C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf105+c.406+309C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172434812">View</a>	GT:AD:DP:GQ:PL:TP	0/1:66,49:115:99:1253,0,1623:127	0/1:52,71:123:99:1984,0,1360:127	0/1:55,62:117:99:1599,0,1491:127
1	172437592	.	G	A	8057.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1129942;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1129942" target="_blank">rs1129942</a>;ExAC.Info.AC=104345;ExAC.Info.AN=126678;ExAC.Info.AF=0.824;ExAC.Info.AC_Het=17374;ExAC.Info.AC_Hom=43398;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser137Asn/c.410G>A;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=C1orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf105" target="_blank">C1orf105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367727;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367727;SAVANT_GENE=C1orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf105" target="_blank">C1orf105</a>;SAVANT_INFO=+/48.1kb/7/1.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.410G>A_p.Ser137Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf105+c.410G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172437592">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,44:78:99:1184,0,1024:127	0/1:46,57:103:99:1493,0,1470:127	0/1:37,42:79:99:1087,0,1067:127
1	172501643	.	T	C	12491.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2239816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2239816" target="_blank">rs2239816</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=31158;ExAC.Info.AN=124980;ExAC.Info.AF=0.249;ExAC.Info.AC_Het=22564;ExAC.Info.AC_Hom=4132;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Cct;snpeff.Amino_Acid_Change=p.Ser11Pro/c.31T>C;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=SUCO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUCO" target="_blank">SUCO</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000608151;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUCO" target="_blank">SUCO</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SUCO+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172501643">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,34:84:99:940,0,1336:127	1|1:0,106:106:99:3957,319,0:127	0|0:98,0:98:99:0,295,3416:127
1	172502479	.	T	C	9568.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2285144;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2285144" target="_blank">rs2285144</a>;ExAC.Info.AC=28774;ExAC.Info.AN=60178;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=5808;ExAC.Info.AC_Hom=5005;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile164Ile/c.492T>C;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=SUCO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUCO" target="_blank">SUCO</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000608151;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263688;SAVANT_GENE=C1orf9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf9" target="_blank">C1orf9</a>;SAVANT_INFO=+/78.6kb/24/5.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-97T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf9+c.-97T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172502479">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:1068,81,0:92	1|1:0,44:44:99:1573,132,0:92	1|1:0,31:31:93:1194,93,0:92
1	172522602	.	G	A	13295.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1159378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1159378" target="_blank">rs1159378</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.765+1836G>A;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=SUCO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUCO" target="_blank">SUCO</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000608151;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263688;SAVANT_GENE=C1orf9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf9" target="_blank">C1orf9</a>;SAVANT_INFO=+/78.6kb/24/5.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.288+92G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf9+c.288+92G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172522602">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,71:129:99:1809,0,1705:127	1|1:0,151:151:99:5076,453,0:127	0|0:139,0:139:99:0,417,4767:127
1	172547465	.	A	G	21248.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=571;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2285664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2285664" target="_blank">rs2285664</a>;ExAC.Info.AC=30627;ExAC.Info.AN=126698;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=22528;ExAC.Info.AC_Hom=4027;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu608Glu/c.1824A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=SUCO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUCO" target="_blank">SUCO</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000608151;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263688;SAVANT_GENE=C1orf9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf9" target="_blank">C1orf9</a>;SAVANT_INFO=+/78.6kb/24/5.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1368A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf9+c.1368A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172547465">View</a>	GT:AD:DP:GQ:PL:TP	0|1:76,81:157:99:2355,0,2069:127	1|1:0,210:210:99:7042,631,0:127	0|0:204,0:204:99:0,612,6542:127
1	172577864	.	CT	C	143.09	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs372623434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=372623434" target="_blank">rs372623434</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3722-22delT;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=SUCO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUCO" target="_blank">SUCO</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000608151;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263688;SAVANT_GENE=C1orf9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf9" target="_blank">C1orf9</a>;SAVANT_INFO=+/78.6kb/24/5.6kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3266-9delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf9+c.3266-9delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172577864">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,10:38:99:131,0,600:12	1|0:24,5:29:27:27,0,530:12	0|0:17,3:20:12:0,12,365:12
1	172634734	.	T	C	71508.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=889;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Autoimmune_lymphoproliferative_syndrome|_type_IB|_601859_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3);dbSNP139.ID=rs2639653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2639653" target="_blank">rs2639653</a>;ExAC.Info.AC=125499;ExAC.Info.AN=126698;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=1183;ExAC.Info.AC_Hom=61837;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.452-28T>C;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=FASLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FASLG" target="_blank">FASLG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367721;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452T>C;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=FASLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FASLG" target="_blank">FASLG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367721;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452T>C;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=FASLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FASLG" target="_blank">FASLG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367721;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452T>C;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=FASLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FASLG" target="_blank">FASLG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367721;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452T>C;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=FASLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FASLG" target="_blank">FASLG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367721;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367721;SAVANT_GENE=FASLG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FASLG" target="_blank">FASLG</a>;SAVANT_INFO=+/7.9kb/4/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.452-28T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FASLG+c.452-28T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172634734">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,260:260:99:9969,782,0:127	1|1:0,312:312:99:11773,938,0:127	1|1:0,317:317:99:11981,952,0:127
1	172862234	.	A	G	42449.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=604;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs9286879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9286879" target="_blank">rs9286879</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.224-111188A>G;snpeff.Gene_Name=RP1-15D23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-15D232" target="_blank">RP1-15D232</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000432694;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-15D232" target="_blank">RP1-15D232</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP1-15D232+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172862234">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,196:196:99:6981,589,0:127	1|1:0,220:220:99:7958,661,0:127	1|0:91,97:188:99:2840,0,2494:127
1	172862380	.	C	G	22325.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs7527462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7527462" target="_blank">rs7527462</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.224-111042C>G;snpeff.Gene_Name=RP1-15D23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-15D232" target="_blank">RP1-15D232</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000432694;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-15D232" target="_blank">RP1-15D232</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP1-15D232+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172862380">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3776,301,0:127	1|1:0,135:135:99:5129,406,0:127	1|0:62,56:118:99:1788,0,1924:127
1	172863948	.	G	A	24831.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2157453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2157453" target="_blank">rs2157453</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.224-109474G>A;snpeff.Gene_Name=RP1-15D23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-15D232" target="_blank">RP1-15D232</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000432694;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-15D232" target="_blank">RP1-15D232</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP1-15D232+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172863948">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,123:123:99:4067,370,0:127	1|1:1,157:158:99:5131,434,0:127	1|0:81,79:160:99:2150,0,2244:127
1	172863992	.	G	A	19040.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2157454;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2157454" target="_blank">rs2157454</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.224-109430G>A;snpeff.Gene_Name=RP1-15D23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-15D232" target="_blank">RP1-15D232</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000432694;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-15D232" target="_blank">RP1-15D232</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP1-15D232+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:172863992">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:2985,259,0:127	1|1:0,117:117:99:4087,352,0:127	1|0:62,61:123:99:1640,0,1850:127
1	173174389	.	G	A	2994.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12730413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12730413" target="_blank">rs12730413</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.153+1774C>T;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=TNFSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFSF4" target="_blank">TNFSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281834;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154G>A;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=TNFSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFSF4" target="_blank">TNFSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281834;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154G>A;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=TNFSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFSF4" target="_blank">TNFSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281834;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154G>A;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=TNFSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFSF4" target="_blank">TNFSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281834;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281834;SAVANT_GENE=TNFSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFSF4" target="_blank">TNFSF4</a>;SAVANT_INFO=-/23.6kb/3/3.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.153+1774C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNFSF4+c.153+1774C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173174389">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2907:127	0|1:57,55:112:99:1516,0,1640:127	0|0:83,0:83:99:0,249,2997:127
1	173470105	.	A	G	1576.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12065426;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12065426" target="_blank">rs12065426</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=128;snpeff.Amino_Acid_Change=c.*128T>C;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=SLC9C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9C2" target="_blank">SLC9C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367714;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367714;SAVANT_GENE=SLC9A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A11" target="_blank">SLC9A11</a>;SAVANT_INFO=-/102.6kb/28/4.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*128T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC9A11+c.*128T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173470105">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,1957:127	0|0:57,0:57:99:0,171,1969:127	0|1:29,32:61:99:807,0,794:127
1	173472465	.	G	A	5102.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72709309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72709309" target="_blank">rs72709309</a>;ExAC.Info.AC=4345;ExAC.Info.AN=126702;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=4109;ExAC.Info.AC_Hom=112;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3311C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=SLC9C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9C2" target="_blank">SLC9C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367714;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala1104Val/c.3311C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=SLC9C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9C2" target="_blank">SLC9C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367714;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367714;SAVANT_GENE=SLC9A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A11" target="_blank">SLC9A11</a>;SAVANT_INFO=-/102.6kb/28/4.4kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3311C>T_p.Ala1104Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC9A11+c.3311C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173472465">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,44:86:99:1071,0,1101:127	0|0:113,0:113:99:0,339,3649:127	1|0:49,49:98:99:1386,0,1396:127
1	173472551	.	T	C	1748.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10912625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10912625" target="_blank">rs10912625</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3311-86A>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=SLC9C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9C2" target="_blank">SLC9C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367714;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367714;SAVANT_GENE=SLC9A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A11" target="_blank">SLC9A11</a>;SAVANT_INFO=-/102.6kb/28/4.4kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3311-86A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC9A11+c.3311-86A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173472551">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1522:125	0|1:22,31:53:99:893,0,672:125	0|0:56,0:56:99:0,168,2218:125
1	173474429	.	T	C	5324.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=568;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12026637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12026637" target="_blank">rs12026637</a>;ExAC.Info.AC=34188;ExAC.Info.AN=126696;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=22113;ExAC.Info.AC_Hom=5990;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln1089Gln/c.3267A>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=SLC9C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9C2" target="_blank">SLC9C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367714;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367714;SAVANT_GENE=SLC9A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A11" target="_blank">SLC9A11</a>;SAVANT_INFO=-/102.6kb/28/4.4kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.3267A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC9A11+c.3267A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173474429">View</a>	GT:AD:DP:GQ:PL:TP	0|0:182,0:182:99:0,547,5940:127	0|1:107,94:201:99:2681,0,3051:127	0|0:185,0:185:99:0,555,6249:127
1	173516871	.	G	C	5370.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=520;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16846206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16846206" target="_blank">rs16846206</a>;ExAC.Info.AC=35079;ExAC.Info.AN=126698;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=22801;ExAC.Info.AC_Hom=6115;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCt/gGt;snpeff.Amino_Acid_Change=p.Ala505Gly/c.1514C>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=SLC9C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9C2" target="_blank">SLC9C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367714;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367714;SAVANT_GENE=SLC9A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A11" target="_blank">SLC9A11</a>;SAVANT_INFO=-/102.6kb/28/4.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1514C>G_p.Ala505Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC9A11+c.1514C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173516871">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,0:149:99:0,448,5080:127	0|1:102,94:196:99:2704,0,2893:127	0|0:175,0:175:99:0,525,5985:127
1	173516903	.	A	G	4704.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10494490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10494490" target="_blank">rs10494490</a>;ExAC.Info.AC=40667;ExAC.Info.AN=126694;ExAC.Info.AF=0.321;ExAC.Info.AC_Het=24252;ExAC.Info.AC_Hom=8168;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn494Asn/c.1482T>C;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=SLC9C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9C2" target="_blank">SLC9C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367714;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367714;SAVANT_GENE=SLC9A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A11" target="_blank">SLC9A11</a>;SAVANT_INFO=-/102.6kb/28/4.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1482T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC9A11+c.1482T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173516903">View</a>	GT:AD:DP:GQ:PL:TP	0|0:139,0:139:99:0,417,4467:127	0|1:80,84:164:99:2371,0,2059:127	0|0:138,0:138:99:0,418,4741:127
1	173552783	.	G	A	1664.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12032386;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12032386" target="_blank">rs12032386</a>;ExAC.Info.AC=44938;ExAC.Info.AN=126578;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=25427;ExAC.Info.AC_Hom=9542;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.524-22C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=SLC9C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9C2" target="_blank">SLC9C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367714;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.69-19128G>A;snpeff.Gene_Name=RP3-436N22.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9C2" target="_blank">SLC9C2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431459;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367714;SAVANT_GENE=SLC9A11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC9A11" target="_blank">SLC9A11</a>;SAVANT_INFO=-/102.6kb/28/4.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.524-22C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC9A11+c.524-22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173552783">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1936:127	0|1:39,30:69:99:851,0,1239:127	0|0:62,0:62:99:0,186,2363:127
1	173638537	.	CA	C	1021.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=135;MQ=70.04;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs58611776;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58611776" target="_blank">rs58611776</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-16+418delT;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=ANKRD45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD45" target="_blank">ANKRD45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333279;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000333279:ENST00000453299;SAVANT_GENE=ANKRD45:BX248409.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD45:BX2484091" target="_blank">ANKRD45:BX2484091</a>;SAVANT_INFO=-/60.3kb/6/1.4kb:-/18.1kb/5/0.3kb;SAVANT_LOC=5UTR:In2/3;SAVANT_HGVS=c.-9981delT:c.116+53delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD45:BX2484091+c.-9981delT:c.116+53delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173638537">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,12:40:99:176,0,544:127	0/1:37,16:53:99:188,0,710:127	0/1:31,11:42:99:159,0,636:127
1	173797451	.	T	C	6531.29	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=482;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement_and_lactate_elevation|_611105_(3);dbSNP139.ID=rs55878143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55878143" target="_blank">rs55878143</a>;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124657;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228-20T>C;snpeff.Amino_Acid_length=645;snpeff.Gene_Name=DARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARS2" target="_blank">DARS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361951;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361951;SAVANT_GENE=DARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DARS2" target="_blank">DARS2</a>;SAVANT_INFO=+/34.0kb/17/3.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.228-20T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DARS2+c.228-20T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173797451">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124657" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:85,54:139:99:1056,0,2229:127	0/1:127,65:192:99:1109,0,3193:127	0/1:101,50:151:99:850,0,2786:127
1	173878832	.	T	C	10252.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombophilia_due_to_antithrombin_III_deficiency|_613118_(3);dbSNP139.ID=rs5878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5878" target="_blank">rs5878</a>;ExAC.Info.AC=50957;ExAC.Info.AN=126702;ExAC.Info.AF=0.402;ExAC.Info.AC_Het=27615;ExAC.Info.AC_Hom=11669;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367698;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367698;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367698;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367698;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln337Gln/c.1011A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367698;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367698;SAVANT_GENE=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;SAVANT_INFO=-/13.6kb/7/1.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1011A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERPINC1+c.1011A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173878832">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,64:131:99:1787,0,1755:127	1|0:100,84:184:99:2319,0,2848:127	0|0:123,0:123:99:0,370,4399:127
1	173878862	.	T	C	8862.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=399;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombophilia_due_to_antithrombin_III_deficiency|_613118_(3);dbSNP139.ID=rs5877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5877" target="_blank">rs5877</a>;ExAC.Info.AC=51547;ExAC.Info.AN=126704;ExAC.Info.AF=0.407;ExAC.Info.AC_Het=27785;ExAC.Info.AC_Hom=11879;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367698;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367698;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367698;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367698;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val327Val/c.981A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367698;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367698;SAVANT_GENE=SERPINC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINC1" target="_blank">SERPINC1</a>;SAVANT_INFO=-/13.6kb/7/1.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.981A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERPINC1+c.981A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173878862">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,59:123:99:1588,0,1669:127	1|0:85,73:158:99:2067,0,2313:127	0|0:118,0:118:99:0,355,4134:127
1	173952711	.	A	G	8514.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=918;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72711434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72711434" target="_blank">rs72711434</a>;ExAC.Info.AC=398;ExAC.Info.AN=126704;ExAC.Info.AF=3.141e-03;ExAC.Info.AC_Het=398;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTa/gCa;snpeff.Amino_Acid_Change=p.Val146Ala/c.437T>C;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=RC3H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RC3H1" target="_blank">RC3H1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258349;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367696;SAVANT_GENE=RC3H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RC3H1" target="_blank">RC3H1</a>;SAVANT_INFO=-/91.1kb/20/11.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.437T>C_p.Val146Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RC3H1+c.437T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:173952711">View</a>	GT:AD:DP:GQ:PL:TP	0|0:263,0:263:99:0,790,8456:127	0|1:168,150:318:99:4276,0,4798:127	0|0:337,0:337:99:0,1012,11314:127
1	174188285	.	G	A	6524.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2103640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2103640" target="_blank">rs2103640</a>;ExAC.Info.AC=33867;ExAC.Info.AN=126698;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=24082;ExAC.Info.AC_Hom=4834;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=11;snpeff.Amino_Acid_Change=c.-11G>A;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=RABGAP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251507;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000251507;SAVANT_GENE=RABGAP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;SAVANT_INFO=+/798.7kb/21/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-11G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RABGAP1L+c.-11G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:174188285">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,46:100:99:1142,0,1760:127	1|0:68,56:124:99:1501,0,2145:127	0|0:118,0:118:99:0,354,4349:127
1	174417231	.	G	A	10909.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7516240;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7516240" target="_blank">rs7516240</a>;ExAC.Info.AC=122485;ExAC.Info.AN=126592;ExAC.Info.AF=0.968;ExAC.Info.AC_Het=3806;ExAC.Info.AC_Hom=57382;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1710+53948G>A;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=RABGAP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251507;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=19;snpeff.Amino_Acid_Change=c.-19G>A;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=GPR52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367685;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1711G>A;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=RABGAP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251507;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1711G>A;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=RABGAP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251507;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1711G>A;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=RABGAP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251507;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1711G>A;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=RABGAP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251507;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1711G>A;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=RABGAP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251507;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1711G>A;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=RABGAP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251507;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000251507:ENST00000367685;SAVANT_GENE=RABGAP1L:GPR52;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L:GPR52" target="_blank">RABGAP1L:GPR52</a>;SAVANT_INFO=+/798.7kb/21/2.9kb:+/1.5kb/1/1.5kb;SAVANT_LOC=In13/14:5UTR;SAVANT_HGVS=c.1710+53948G>A:c.-19G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RABGAP1L:GPR52+c.1710+53948G>A:c.-19G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:174417231">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1527,147,0:127	1|1:0,46:46:99:1479,138,0:127	1|1:0,45:45:99:1510,135,0:127
1	174945171	.	CTGTATGACTGTGA	C	12936.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=687;MQ=69.80;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs142125254;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142125254" target="_blank">rs142125254</a>;ExAC.Info.AC=3967;ExAC.Info.AN=24858;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=3096;ExAC.Info.AC_Hom=395;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RABGAP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L" target="_blank">RABGAP1L</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RABGAP1L+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:174945171">View</a>	GT:AD:DP:GQ:PL:TP	0|1:119,106:225:99:2981,0,5947:127	1|0:126,98:224:99:2982,0,6499:127	0|0:238,0:238:99:0,716,13121:127
1	174979032	.	A	G	6108.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=816;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41266070;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41266070" target="_blank">rs41266070</a>;ExAC.Info.AC=735;ExAC.Info.AN=126634;ExAC.Info.AF=5.804e-03;ExAC.Info.AC_Het=723;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.531-27A>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CACYBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACYBP" target="_blank">CACYBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CACYBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACYBP" target="_blank">CACYBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367679;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CACYBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACYBP" target="_blank">CACYBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_S100A6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CACYBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACYBP" target="_blank">CACYBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367679;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_S100A6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CACYBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACYBP" target="_blank">CACYBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_SKP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CACYBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACYBP" target="_blank">CACYBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367679;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_SKP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CACYBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACYBP" target="_blank">CACYBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367679;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_SKP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CACYBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACYBP" target="_blank">CACYBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367679;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_SKP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CACYBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACYBP" target="_blank">CACYBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_SKP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.531A>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=CACYBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACYBP" target="_blank">CACYBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367679;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367679;SAVANT_GENE=CACYBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACYBP" target="_blank">CACYBP</a>;SAVANT_INFO=+/12.0kb/6/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.531-27A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACYBP+c.531-27A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:174979032">View</a>	GT:AD:DP:GQ:PL:TP	0|0:293,1:294:99:0,846,9522:127	0|1:148,111:259:99:3073,0,4101:127	0|0:263,0:263:99:0,790,9212:127
1	175046789	.	A	G	27688.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2072032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072032" target="_blank">rs2072032</a>;ExAC.Info.AC=65036;ExAC.Info.AN=126702;ExAC.Info.AF=0.513;ExAC.Info.AC_Het=30703;ExAC.Info.AC_Hom=17019;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg79Gly/c.235A>G;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.235A>G_p.Arg79Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.235A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175046789">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3598,310,0:127	1|1:0,100:100:99:3571,301,0:127	1|1:0,109:109:99:3679,328,0:127
1	175053098	.	T	C	6200.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11577778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11577778" target="_blank">rs11577778</a>;ExAC.Info.AC=19957;ExAC.Info.AN=126674;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=16509;ExAC.Info.AC_Hom=1648;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1234+27T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1234+27T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.1234+27T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175053098">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,27:76:99:777,0,1655:127	1|0:64,46:110:99:1197,0,2100:127	0|0:84,0:84:99:0,253,3360:127
1	175053101	.	A	T	25698.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2072030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072030" target="_blank">rs2072030</a>;ExAC.Info.AC=63925;ExAC.Info.AN=126662;ExAC.Info.AF=0.505;ExAC.Info.AC_Het=31000;ExAC.Info.AC_Hom=16177;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1234+30A>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1235A>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1234+30A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.1234+30A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175053101">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2858,214,0:127	1|1:0,105:105:99:4231,316,0:127	1|1:0,79:79:99:3080,240,0:127
1	175054548	.	C	T	9941.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1573758;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1573758" target="_blank">rs1573758</a>;ExAC.Info.AC=63439;ExAC.Info.AN=126680;ExAC.Info.AF=0.501;ExAC.Info.AC_Het=30622;ExAC.Info.AC_Hom=15338;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1242C>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1242C>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1242C>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His414His/c.1242C>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1242C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.1242C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175054548">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1132,99,0:98	1|1:0,40:40:99:1539,120,0:98	1|1:0,33:33:99:1185,99,0:98
1	175087677	.	G	A	35965.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=386;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6656284;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6656284" target="_blank">rs6656284</a>;ExAC.Info.AC=53394;ExAC.Info.AN=126666;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=27346;ExAC.Info.AC_Hom=12548;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2387-20G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2387G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2387G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2387-20G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.2387-20G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175087677">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:4407,355,0:127	1|1:0,168:168:99:6223,505,0:127	1|1:0,103:103:99:3520,309,0:127
1	175087683	.	A	AT	6134.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=375;MQ=69.95;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs149150350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149150350" target="_blank">rs149150350</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2387-13_2387-12insT;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2387_2388insT;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2387_2388insT;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2387-4dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.2387-4dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175087683">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,53:116:99:1011,0,1353:127	1|0:98,64:162:99:1323,0,2213:127	0|0:97,0:97:99:0,291,2648:127
1	175087729	.	T	C	36412.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=456;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6696455;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6696455" target="_blank">rs6696455</a>;ExAC.Info.AC=53455;ExAC.Info.AN=126704;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=27582;ExAC.Info.AC_Hom=12924;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2419T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2419T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp807Arg/c.2419T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2419T>C_p.Trp807Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.2419T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175087729">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:4936,456,0:127	1|1:0,178:178:99:5916,537,0:127	1|1:0,126:126:99:4244,378,0:127
1	175092840	.	T	C	19210.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2072041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072041" target="_blank">rs2072041</a>;ExAC.Info.AC=76288;ExAC.Info.AN=126680;ExAC.Info.AF=0.602;ExAC.Info.AC_Het=29812;ExAC.Info.AC_Hom=22907;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2914+41T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2915T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2915T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2914+41T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.2914+41T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175092840">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2692,240,0:127	1|1:0,95:95:99:3235,285,0:127	1|1:0,65:65:99:2293,195,0:127
1	175097331	.	G	A	5305.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10912891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10912891" target="_blank">rs10912891</a>;ExAC.Info.AC=66886;ExAC.Info.AN=126150;ExAC.Info.AF=0.530;ExAC.Info.AC_Het=26759;ExAC.Info.AC_Hom=18386;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3178+31G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3179G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3179G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3179G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.3178+31G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.3178+31G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175097331">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,17:38:99:459,0,501:104	0|1:26,22:48:99:647,0,746:104	1|1:0,35:35:99:1171,105,0:104
1	175097349	.	C	T	8552.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7547567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7547567" target="_blank">rs7547567</a>;ExAC.Info.AC=79863;ExAC.Info.AN=125528;ExAC.Info.AF=0.636;ExAC.Info.AC_Het=25715;ExAC.Info.AC_Hom=24503;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3178+49C>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3179C>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3179C>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3179C>T;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.3178+49C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.3178+49C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175097349">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1113,111,0:89	1|1:0,45:45:99:1505,135,0:89	1|1:0,30:30:90:954,90,0:89
1	175105942	.	G	A	16510.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4650703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4650703" target="_blank">rs4650703</a>;ExAC.Info.AC=123578;ExAC.Info.AN=126662;ExAC.Info.AF=0.976;ExAC.Info.AC_Het=2949;ExAC.Info.AC_Hom=60021;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3428-15G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3428G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3428G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3428G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3428G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3428G>A;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.3428-15G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.3428-15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175105942">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1876,159,0:127	1|1:0,81:81:99:2880,243,0:127	1|1:0,73:73:99:2457,219,0:127
1	175113578	.	T	C	13493.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10912897;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10912897" target="_blank">rs10912897</a>;ExAC.Info.AC=123486;ExAC.Info.AN=126704;ExAC.Info.AF=0.975;ExAC.Info.AC_Het=3102;ExAC.Info.AC_Hom=60183;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3651T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3651T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3651T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3651T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3651T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn1217Asn/c.3651T>C;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.3651T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.3651T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175113578">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1763,150,0:125	1|1:0,63:63:99:2209,189,0:125	1|1:0,42:42:99:1475,126,0:125
1	175116046	.	C	CT	2359.31	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11450833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11450833" target="_blank">rs11450833</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3760-20_3760-19insT;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3760_3761insT;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3760_3761insT;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3760_3761insT;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3760_3761insT;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibrinogen_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3760_3761insT;snpeff.Amino_Acid_length=1299;snpeff.Gene_Name=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239462;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000239462;SAVANT_GENE=TNN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNN" target="_blank">TNN</a>;SAVANT_INFO=+/80.2kb/19/5.0kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.3760-6dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNN+c.3760-6dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175116046">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,14:25:99:207,0,145:25	0/1:8,26:34:60:427,0,60:25	0/1:5,23:28:25:363,0,25:25
1	175129945	.	TC	T	4700.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=72;MQ=70.46;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs60195884;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60195884" target="_blank">rs60195884</a>;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=aag/;snpeff.Amino_Acid_Change=p.Lys68fs/c.204delG;snpeff.Amino_Acid_length=99;snpeff.Gene_Name=KIAA0040;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0040" target="_blank">KIAA0040</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423313;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;LOF=(KIAA0040|ENSG00000235750|1|1.00);TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0040" target="_blank">KIAA0040</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0040+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175129945">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,15:27:99:564,0,480:101	0|1:4,7:11:99:254,0,147:101	1|1:0,34:34:99:1395,102,0:101
1	175129946	.	C	T	1014.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=72;MQ=70.46;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2072035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072035" target="_blank">rs2072035</a>;ExAC.Info.AC=11414;ExAC.Info.AN=19516;ExAC.Info.AF=0.585;ExAC.Info.AC_Het=5581;ExAC.Info.AC_Hom=2169;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys68Lys/c.204G>A;snpeff.Amino_Acid_length=99;snpeff.Gene_Name=KIAA0040;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0040" target="_blank">KIAA0040</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423313;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0040" target="_blank">KIAA0040</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0040+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175129946">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,12:27:99:340,0,594:101	1|0:7,4:11:99:118,0,254:101	0|0:34,0:34:99:0,102,1474:101
1	175129947	.	TTCTTCTTG	T	4681.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=75;MQ=70.42;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;ExAC.Info.AC=8460;ExAC.Info.AN=26738;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=5071;ExAC.Info.AC_Hom=1362;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=aacaagaagaag/;snpeff.Amino_Acid_Change=p.Asn65fs/c.195_202delCAAGAAGA;snpeff.Amino_Acid_length=99;snpeff.Gene_Name=KIAA0040;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0040" target="_blank">KIAA0040</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423313;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;LOF=(KIAA0040|ENSG00000235750|1|1.00);TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0040" target="_blank">KIAA0040</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0040+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175129947">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,15:28:99:564,0,480:101	0|1:6,7:13:99:248,0,209:101	1|1:0,34:34:99:1396,102,0:101
1	175293424	.	T	C	16274.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2213635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2213635" target="_blank">rs2213635</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3957+68A>G;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.335+3167T>C;snpeff.Gene_Name=RP3-518E13.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000569593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3957+68A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.3957+68A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175293424">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,48:108:99:1376,0,1689:127	0|1:86,55:141:99:1516,0,2502:127	1|1:0,137:137:99:4881,412,0:127
1	175299301	.	T	C	13550.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2027867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2027867" target="_blank">rs2027867</a>;ExAC.Info.AC=94306;ExAC.Info.AN=126702;ExAC.Info.AF=0.744;ExAC.Info.AC_Het=23707;ExAC.Info.AC_Hom=35226;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.336-212T>C;snpeff.Gene_Name=RP3-518E13.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-518E132" target="_blank">RP3-518E132</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000569593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln1234Gln/c.3702A>G;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP3-518E132" target="_blank">RP3-518E132</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.3702A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.3702A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175299301">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,43:86:99:1363,0,1343:127	0|1:52,48:100:99:1553,0,1679:127	1|1:0,79:79:99:2976,237,0:127
1	175323446	.	A	G	17305.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2301432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2301432" target="_blank">rs2301432</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3382+81T>C;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.3382+81T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.3382+81T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175323446">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,48:102:99:1389,0,1331:127	0|1:67,69:136:99:2024,0,1970:127	1|1:0,126:126:99:4367,379,0:127
1	175324651	.	A	G	16644.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2228359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228359" target="_blank">rs2228359</a>;ExAC.Info.AC=87391;ExAC.Info.AN=126700;ExAC.Info.AF=0.690;ExAC.Info.AC_Het=26403;ExAC.Info.AC_Hom=30453;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp1079Asp/c.3237T>C;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.3237T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.3237T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175324651">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,56:126:99:1615,0,1923:127	0|1:77,67:144:99:1939,0,2210:127	1|1:1,107:108:99:3687,318,0:127
1	175348723	.	C	T	36170.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs859427;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859427" target="_blank">rs859427</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Schizophrenia|_association_with;hgmd_2014.2.OMIM_ID=601995;hgmd_2014.2.PubMed=19435634;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19435634" target="_blank">19435634</a>;ExAC.Info.AC=85108;ExAC.Info.AN=126704;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=27369;ExAC.Info.AC_Hom=28815;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg643Lys/c.1928G>A;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1928G>A_p.Arg643Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.1928G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175348723">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4367,366,0:127	1|1:1,175:176:99:6373,525,0:127	1|1:0,136:136:99:4780,409,0:127
1	175355128	.	C	G	60036.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=717;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs859436;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859436" target="_blank">rs859436</a>;ExAC.Info.AC=77972;ExAC.Info.AN=125610;ExAC.Info.AF=0.621;ExAC.Info.AC_Het=26692;ExAC.Info.AC_Hom=23194;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1777+40G>C;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1777+40G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.1777+40G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175355128">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,226:226:99:8453,679,0:127	1|1:0,267:267:99:9831,803,0:127	1|1:0,224:224:99:8284,673,0:127
1	175355152	.	C	T	12727.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=650;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72723450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72723450" target="_blank">rs72723450</a>;ExAC.Info.AC=26201;ExAC.Info.AN=126496;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=19619;ExAC.Info.AC_Hom=2730;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1777+16G>A;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1777+16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.1777+16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175355152">View</a>	GT:AD:DP:GQ:PL:TP	0|1:110,96:206:99:2554,0,3270:127	1|0:140,93:233:99:2606,0,4148:127	0|0:211,0:211:99:0,634,7532:127
1	175355391	.	A	G	18249.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs859437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859437" target="_blank">rs859437</a>;ExAC.Info.AC=102766;ExAC.Info.AN=126644;ExAC.Info.AF=0.811;ExAC.Info.AC_Het=18751;ExAC.Info.AC_Hom=41435;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr518Thr/c.1554T>C;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1554T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.1554T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175355391">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2261,201,0:127	1|1:0,94:94:99:3289,282,0:127	1|1:0,66:66:99:2316,198,0:127
1	175365663	.	G	A	12384.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs859446;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859446" target="_blank">rs859446</a>;ExAC.Info.AC=58929;ExAC.Info.AN=126672;ExAC.Info.AF=0.465;ExAC.Info.AC_Het=30346;ExAC.Info.AC_Hom=14207;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1240+17C>T;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1240+17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.1240+17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175365663">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,32:65:99:960,0,903:127	0|1:44,59:103:99:1732,0,1235:127	1|1:0,80:80:99:2761,240,0:127
1	175375334	.	C	T	15917.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs859400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859400" target="_blank">rs859400</a>;ExAC.Info.AC=49611;ExAC.Info.AN=126662;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=28596;ExAC.Info.AC_Hom=10170;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.499+18G>A;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.499+18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.499+18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175375334">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,37:98:99:1093,0,1824:127	0|1:58,63:121:99:1814,0,1671:127	1|1:0,105:105:99:3944,316,0:127
1	175375469	.	C	A	20118.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=490;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2239819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2239819" target="_blank">rs2239819</a>;ExAC.Info.AC=37232;ExAC.Info.AN=126704;ExAC.Info.AF=0.294;ExAC.Info.AC_Het=24611;ExAC.Info.AC_Hom=6304;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Tcc;snpeff.Amino_Acid_Change=p.Ala128Ser/c.382G>T;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.382G>T_p.Ala128Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.382G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175375469">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,76:156:99:1889,0,2586:127	0|1:104,102:206:99:2788,0,3191:127	1|1:0,128:128:99:4214,384,0:127
1	175375683	.	T	C	30824.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs859399;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859399" target="_blank">rs859399</a>;ExAC.Info.AC=85487;ExAC.Info.AN=126704;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=26809;ExAC.Info.AC_Hom=29339;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr56Thr/c.168A>G;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.168A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.168A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175375683">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:4665,408,0:127	1|1:0,135:135:99:4712,406,0:127	1|1:3,103:106:99:3567,204,0:127
1	175375802	.	T	C	49513.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=636;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs859398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=859398" target="_blank">rs859398</a>;ExAC.Info.AC=85322;ExAC.Info.AN=126704;ExAC.Info.AF=0.673;ExAC.Info.AC_Het=26896;ExAC.Info.AC_Hom=29206;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile17Val/c.49A>G;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.49A>G_p.Ile17Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.49A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175375802">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,222:222:99:7906,667,0:127	1|1:0,234:234:99:8080,702,0:127	1|1:0,180:180:99:6402,540,0:127
1	175376019	.	AG	A	19718.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs60974501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60974501" target="_blank">rs60974501</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-63-107delC;snpeff.Amino_Acid_length=1358;snpeff.Gene_Name=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367674;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367674;SAVANT_GENE=TNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNR" target="_blank">TNR</a>;SAVANT_INFO=-/421.0kb/23/5.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-170delC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNR+c.-170delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175376019">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3124,313,0:127	1|1:0,106:106:99:3237,319,0:127	1|1:0,92:92:99:2813,277,0:127
1	175911119	.	G	C	444.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=60;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61820919;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61820919" target="_blank">rs61820919</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61820919" target="_blank">rs61820919</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175911119">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,0:18:54:0,54,554:53	0|1:12,8:20:99:241,0,375:53	0|0:22,0:22:66:0,66,773:53
1	175937540	.	C	T	21718.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4534339;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4534339" target="_blank">rs4534339</a>;ExAC.Info.AC=113232;ExAC.Info.AN=116356;ExAC.Info.AF=0.973;ExAC.Info.AC_Het=2740;ExAC.Info.AC_Hom=54895;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.137G>A;snpeff.Gene_Name=SCARNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCARNA3" target="_blank">SCARNA3</a>;snpeff.Transcript_BioType=snoRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000517097;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2133+18539G>A;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCARNA3" target="_blank">SCARNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2134C>T;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCARNA3" target="_blank">SCARNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2134C>T;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCARNA3" target="_blank">SCARNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2134C>T;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCARNA3" target="_blank">SCARNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367669;SAVANT_GENE=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;SAVANT_INFO=-/262.7kb/20/3.0kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2133+18539G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RFWD2+c.2133+18539G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:175937540">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3062,279,0:127	1|1:0,98:98:99:3417,295,0:127	1|1:0,96:96:99:3417,288,0:127
1	176050430	.	GA	G	912.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs56720201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56720201" target="_blank">rs56720201</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1142-8delT;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1142delT;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367669;SAVANT_GENE=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;SAVANT_INFO=-/262.7kb/20/3.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1142-8delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RFWD2+c.1142-8delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176050430">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,7:35:55:55,0,505:55	0/1:40,13:53:99:138,0,688:55	0/1:35,19:54:99:219,0,564:55
1	176103053	.	TAC	T	12518.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs34010407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34010407" target="_blank">rs34010407</a>;ExAC.Info.AC=4538;ExAC.Info.AN=13664;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=2537;ExAC.Info.AC_Hom=812;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.968+1091_968+1092delGT;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367669;SAVANT_GENE=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;SAVANT_INFO=-/262.7kb/20/3.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.968+1091_968+1092delGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RFWD2+c.968+1091_968+1092delGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176103053">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1642,111,0:101	1|1:0,55:55:99:2428,166,0:101	1|1:0,34:34:99:1482,102,0:101
1	176105710	.	CA	C	121.96	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs373330844;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=373330844" target="_blank">rs373330844</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.832-28delT;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.832delA;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.832delA;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.832delA;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.832delA;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367669;SAVANT_GENE=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;SAVANT_INFO=-/262.7kb/20/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.832-28delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RFWD2+c.832-28delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176105710">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,0:18:53:0,53,451:6	0|1:28,6:34:46:46,0,642:6	0|0:23,4:27:6:0,6,528:6
1	176118219	.	G	A	6458.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3748618;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748618" target="_blank">rs3748618</a>;ExAC.Info.AC=42784;ExAC.Info.AN=126288;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=26664;ExAC.Info.AC_Hom=7681;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.763-9C>T;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.763G>A;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.763G>A;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.763G>A;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.763G>A;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367669;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367669;SAVANT_GENE=RFWD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RFWD2" target="_blank">RFWD2</a>;SAVANT_INFO=-/262.7kb/20/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.763-9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RFWD2+c.763-9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176118219">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:848,81,0:77	1|1:0,46:46:99:1473,138,0:77	1|1:0,26:26:78:964,78,0:77
1	176659463	.	C	T	26044.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10913241;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10913241" target="_blank">rs10913241</a>;ExAC.Info.AC=21026;ExAC.Info.AN=125482;ExAC.Info.AF=0.168;ExAC.Info.AC_Het=16802;ExAC.Info.AC_Hom=2097;snpeff.Effect=sequence_feature[disulfide_bond:Or_C-788_with_C-771];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2328C>T;snpeff.Amino_Acid_length=1791;snpeff.Gene_Name=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367662;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2328C>T;snpeff.Amino_Acid_length=1791;snpeff.Gene_Name=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367662;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2328C>T;snpeff.Amino_Acid_length=1791;snpeff.Gene_Name=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367662;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2328C>T;snpeff.Amino_Acid_length=1791;snpeff.Gene_Name=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367662;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2328C>T;snpeff.Amino_Acid_length=1791;snpeff.Gene_Name=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367662;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro776Pro/c.2328C>T;snpeff.Amino_Acid_length=1791;snpeff.Gene_Name=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367662;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367662;SAVANT_GENE=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;SAVANT_INFO=+/382.4kb/23/9.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2328C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPPA2+c.2328C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176659463">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,121:121:99:4075,363,0:127	1|1:0,139:139:99:4736,417,0:127	1|0:44,70:114:99:2069,0,1237:127
1	176664842	.	C	A	7377.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs12138725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12138725" target="_blank">rs12138725</a>;ExAC.Info.AC=30183;ExAC.Info.AN=125614;ExAC.Info.AF=0.240;ExAC.Info.AC_Het=22026;ExAC.Info.AC_Hom=4030;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2625-32C>A;snpeff.Amino_Acid_length=1791;snpeff.Gene_Name=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367662;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367662;SAVANT_GENE=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;SAVANT_INFO=+/382.4kb/23/9.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.2625-32C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPPA2+c.2625-32C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176664842">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1236,111,0:110	1|1:0,45:45:99:1459,135,0:110	1|0:18,13:31:99:322,0,584:110
1	176769358	.	T	C	12591.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10913256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10913256" target="_blank">rs10913256</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5202+90T>C;snpeff.Amino_Acid_length=1791;snpeff.Gene_Name=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367662;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5203T>C;snpeff.Amino_Acid_length=1791;snpeff.Gene_Name=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367662;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5203T>C;snpeff.Amino_Acid_length=1791;snpeff.Gene_Name=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367662;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367662;SAVANT_GENE=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;SAVANT_INFO=+/382.4kb/23/9.7kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.5202+90T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPPA2+c.5202+90T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176769358">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2207,188,0:127	1|1:0,67:67:99:2497,201,0:127	1|0:20,32:52:99:1037,0,493:127
1	176809368	.	C	T	15741.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs12118034;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12118034" target="_blank">rs12118034</a>;ExAC.Info.AC=19361;ExAC.Info.AN=125394;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=15447;ExAC.Info.AC_Hom=1949;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp1754Asp/c.5262C>T;snpeff.Amino_Acid_length=1791;snpeff.Gene_Name=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367662;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367662;SAVANT_GENE=PAPPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPPA2" target="_blank">PAPPA2</a>;SAVANT_INFO=+/382.4kb/23/9.7kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.5262C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPPA2+c.5262C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176809368">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:2958,312,0:127	1|1:2,101:103:99:2913,243,0:127	1|0:55,31:86:99:678,0,1502:127
1	176857347	.	A	G	4897.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2072935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072935" target="_blank">rs2072935</a>;ExAC.Info.AC=104594;ExAC.Info.AN=126702;ExAC.Info.AF=0.826;ExAC.Info.AC_Het=17660;ExAC.Info.AC_Hom=43246;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2965-7T>C;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2965T>C;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361833;SAVANT_GENE=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;SAVANT_INFO=-/303.6kb/23/7.1kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2941-7T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASTN1+c.2941-7T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176857347">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,17:17:51:634,51,0:50	1|1:0,23:23:69:857,69,0:50	1|0:13,9:22:99:291,0,382:50
1	176863836	.	G	C	17875.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2281180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281180" target="_blank">rs2281180</a>;ExAC.Info.AC=104825;ExAC.Info.AN=126704;ExAC.Info.AF=0.827;ExAC.Info.AC_Het=17600;ExAC.Info.AC_Hom=43603;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caC/caG;snpeff.Amino_Acid_Change=p.His942Gln/c.2826C>G;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361833;SAVANT_GENE=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;SAVANT_INFO=-/303.6kb/23/7.1kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2802C>G_p.His934Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASTN1+c.2802C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176863836">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2514,210,0:127	1|1:0,89:89:99:3254,267,0:127	1|0:38,37:75:99:1152,0,1206:127
1	176863867	.	T	C	19855.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2228956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228956" target="_blank">rs2228956</a>;ExAC.Info.AC=104658;ExAC.Info.AN=126704;ExAC.Info.AF=0.826;ExAC.Info.AC_Het=17709;ExAC.Info.AC_Hom=43472;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His932Arg/c.2795A>G;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361833;SAVANT_GENE=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;SAVANT_INFO=-/303.6kb/23/7.1kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2771A>G_p.His924Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASTN1+c.2771A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176863867">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:3061,253,0:127	1|1:0,97:97:99:3475,291,0:127	1|0:43,44:87:99:1231,0,1238:127
1	176915022	.	A	G	1752.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2076070;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076070" target="_blank">rs2076070</a>;ExAC.Info.AC=25448;ExAC.Info.AN=126410;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=18505;ExAC.Info.AC_Hom=2969;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2273+40T>C;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361833;SAVANT_GENE=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;SAVANT_INFO=-/303.6kb/23/7.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2249+40T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASTN1+c.2249+40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176915022">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2671:127	0|0:111,0:111:99:0,334,3937:127	0|1:35,34:69:99:895,0,952:127
1	176918504	.	A	G	1010.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2076073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076073" target="_blank">rs2076073</a>;ExAC.Info.AC=20725;ExAC.Info.AN=126678;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=16768;ExAC.Info.AC_Hom=1811;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1912-17T>C;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1912A>G;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1912A>G;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361833;SAVANT_GENE=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;SAVANT_INFO=-/303.6kb/23/7.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1888-17T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASTN1+c.1888-17T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176918504">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1092:98	0|0:38,0:38:99:0,114,1342:98	0|1:10,15:25:99:524,0,276:98
1	176992553	.	A	G	20061.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs172917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=172917" target="_blank">rs172917</a>;ExAC.Info.AC=66588;ExAC.Info.AN=126122;ExAC.Info.AF=0.528;ExAC.Info.AC_Het=22864;ExAC.Info.AC_Hom=14555;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425A>G;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425A>G;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425A>G;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425A>G;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys475Cys/c.1425T>C;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361833;SAVANT_GENE=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;SAVANT_INFO=-/303.6kb/23/7.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1425T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASTN1+c.1425T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176992553">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1827,159,0:127	1|1:0,98:98:99:3365,294,0:127	1|1:0,81:81:99:2769,243,0:127
1	176998930	.	C	T	2205.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs56297461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56297461" target="_blank">rs56297461</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1013-53G>A;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361833;SAVANT_GENE=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;SAVANT_INFO=-/303.6kb/23/7.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1013-53G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASTN1+c.1013-53G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176998930">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,294,3347:127	0|0:146,0:146:99:0,438,5024:127	0|1:49,44:93:99:1122,0,1515:127
1	176999917	.	G	A	954.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12568439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12568439" target="_blank">rs12568439</a>;ExAC.Info.AC=21541;ExAC.Info.AN=126696;ExAC.Info.AF=0.170;ExAC.Info.AC_Het=17482;ExAC.Info.AC_Hom=2018;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1012+25C>T;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361833;SAVANT_GENE=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;SAVANT_INFO=-/303.6kb/23/7.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1012+25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASTN1+c.1012+25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:176999917">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1660:127	0|0:58,0:58:99:0,174,2041:127	0|1:35,20:55:99:496,0,997:127
1	177001896	.	C	G	3772.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=496;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2076069;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076069" target="_blank">rs2076069</a>;ExAC.Info.AC=21544;ExAC.Info.AN=126696;ExAC.Info.AF=0.170;ExAC.Info.AC_Het=17413;ExAC.Info.AC_Hom=2014;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro187Pro/c.561G>C;snpeff.Amino_Acid_length=1302;snpeff.Gene_Name=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367654;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361833;SAVANT_GENE=ASTN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASTN1" target="_blank">ASTN1</a>;SAVANT_INFO=-/303.6kb/23/7.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.561G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASTN1+c.561G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177001896">View</a>	GT:AD:DP:GQ:PL:TP	0|0:160,0:160:99:0,480,5354:127	0|0:187,0:187:99:0,562,6507:127	0|1:84,65:149:99:1905,0,2422:127
1	177199323	.	C	T	5251.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3176442;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3176442" target="_blank">rs3176442</a>;ExAC.Info.AC=49211;ExAC.Info.AN=125312;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=25866;ExAC.Info.AC_Hom=9351;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.269+42C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=BRINP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRINP2" target="_blank">BRINP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361539;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MACPF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.270C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=BRINP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRINP2" target="_blank">BRINP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361539;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MACPF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.270C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=BRINP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRINP2" target="_blank">BRINP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361539;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MACPF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.270C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=BRINP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRINP2" target="_blank">BRINP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361539;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MACPF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.270C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=BRINP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRINP2" target="_blank">BRINP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361539;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MACPF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.270C>T;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=BRINP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRINP2" target="_blank">BRINP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361539;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361539;SAVANT_GENE=FAM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM5B" target="_blank">FAM5B</a>;SAVANT_INFO=+/110.9kb/8/3.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.269+42C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM5B+c.269+42C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177199323">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,18:37:99:474,0,580:90	0|1:22,25:47:99:775,0,625:90	1|1:0,30:30:90:1091,90,0:90
1	177247854	.	C	G	8119.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3176443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3176443" target="_blank">rs3176443</a>;ExAC.Info.AC=27404;ExAC.Info.AN=126704;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=20863;ExAC.Info.AC_Hom=3259;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cta/Gta;snpeff.Amino_Acid_Change=p.Leu390Val/c.1168C>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=BRINP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRINP2" target="_blank">BRINP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361539;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361539;SAVANT_GENE=FAM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM5B" target="_blank">FAM5B</a>;SAVANT_INFO=+/110.9kb/8/3.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1168C>G_p.Leu390Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM5B+c.1168C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177247854">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,20:52:99:558,0,1107:127	0/1:52,45:97:99:1429,0,1582:127	0/1:51,37:88:99:1089,0,1544:127
1	177901619	.	G	A	1595.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7531399;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7531399" target="_blank">rs7531399</a>;ExAC.Info.AC=11510;ExAC.Info.AN=94702;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=3377;ExAC.Info.AC_Hom=492;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4974+6C>T;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3012+6C>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.4975C>T;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3013C>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.3012+6C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.3012+6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177901619">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,13:27:99:371,0,397:81	0|0:27,0:27:81:0,81,967:81	1|0:8,9:17:99:244,0,198:81
1	177901655	.	G	A	4379.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3748792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748792" target="_blank">rs3748792</a>;ExAC.Info.AC=18197;ExAC.Info.AN=113808;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=5933;ExAC.Info.AC_Hom=876;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4944C>T;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly994Gly/c.2982C>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2982C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.2982C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177901655">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,18:44:99:714,0,1035:127	0|0:60,0:60:99:0,181,2699:127	1|0:16,18:34:99:739,0,655:127
1	177901658	.	C	T	4369.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7554597;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7554597" target="_blank">rs7554597</a>;ExAC.Info.AC=18166;ExAC.Info.AN=114784;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=6238;ExAC.Info.AC_Hom=925;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4941G>A;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala993Ala/c.2979G>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2979G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.2979G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177901658">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,19:45:99:714,0,1035:127	0|0:62,0:62:99:0,187,2771:127	1|0:17,18:35:99:739,0,655:127
1	177901713	.	T	C	7730.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs522367;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=522367" target="_blank">rs522367</a>;ExAC.Info.AC=40769;ExAC.Info.AN=115518;ExAC.Info.AF=0.353;ExAC.Info.AC_Het=9593;ExAC.Info.AC_Hom=3453;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4895-9A>G;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2933-9A>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2933-9A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.2933-9A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177901713">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,28:75:99:801,0,1292:127	0|0:87,0:87:99:0,261,2864:127	1|1:0,65:65:99:2282,195,0:127
1	177901741	.	A	G	7612.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs684227;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=684227" target="_blank">rs684227</a>;ExAC.Info.AC=54108;ExAC.Info.AN=116222;ExAC.Info.AF=0.466;ExAC.Info.AC_Het=7931;ExAC.Info.AC_Hom=4527;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4895-37T>C;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2933-37T>C;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2933-37T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.2933-37T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177901741">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,32:82:99:799,0,1387:127	0|0:78,0:78:99:0,234,2763:127	1|1:0,66:66:99:2243,198,0:127
1	177902387	.	C	A	6154.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61745560;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61745560" target="_blank">rs61745560</a>;ExAC.Info.AC=26886;ExAC.Info.AN=124350;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=16243;ExAC.Info.AC_Hom=2350;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4744G>T;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Tct;snpeff.Amino_Acid_Change=p.Ala929Ser/c.2785G>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.2785G>T_p.Ala929Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.2785G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177902387">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,48:89:99:1234,0,1073:127	0|0:99,0:99:99:0,297,3450:127	1|0:45,42:87:99:1129,0,1273:127
1	177902482	.	G	A	5762.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3813648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813648" target="_blank">rs3813648</a>;ExAC.Info.AC=24183;ExAC.Info.AN=122886;ExAC.Info.AF=0.197;ExAC.Info.AC_Het=10461;ExAC.Info.AC_Hom=1564;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4684-35C>T;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2725-35C>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2725-35C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.2725-35C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177902482">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,33:66:99:812,0,943:127	0|0:102,0:102:99:0,307,3766:127	1|0:52,49:101:99:1354,0,1505:127
1	177902725	.	C	T	4366.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3813649;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813649" target="_blank">rs3813649</a>;ExAC.Info.AC=29221;ExAC.Info.AN=124904;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=22136;ExAC.Info.AC_Hom=3491;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4577G>A;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser873Asn/c.2618G>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2618G>A_p.Ser873Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.2618G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177902725">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,21:67:99:469,0,1443:127	0|0:99,0:99:99:0,298,3547:127	1|0:34,34:68:99:912,0,971:127
1	177902753	.	G	C	8322.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=265;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs591120;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=591120" target="_blank">rs591120</a>;ExAC.Info.AC=52771;ExAC.Info.AN=124868;ExAC.Info.AF=0.423;ExAC.Info.AC_Het=30136;ExAC.Info.AC_Hom=11266;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4549C>G;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Gca;snpeff.Amino_Acid_Change=p.Pro864Ala/c.2590C>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2590C>G_p.Pro864Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.2590C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177902753">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,25:73:99:632,0,1464:127	0|0:119,0:119:99:0,358,4138:127	1|1:0,73:73:99:2579,219,0:127
1	177905469	.	C	A	3533.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7522194;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7522194" target="_blank">rs7522194</a>;ExAC.Info.AC=27831;ExAC.Info.AN=125096;ExAC.Info.AF=0.222;ExAC.Info.AC_Het=20592;ExAC.Info.AC_Hom=2980;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4494G>T;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caT;snpeff.Amino_Acid_Change=p.Gln845His/c.2535G>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2535G>T_p.Gln845His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.2535G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177905469">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,14:45:99:343,0,999:127	0|0:83,0:83:99:0,250,3139:127	1|0:37,26:63:99:674,0,1203:127
1	177915474	.	A	C	5861.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs842192;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=842192" target="_blank">rs842192</a>;ExAC.Info.AC=32526;ExAC.Info.AN=42350;ExAC.Info.AF=0.768;ExAC.Info.AC_Het=3302;ExAC.Info.AC_Hom=7759;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3734+81T>G;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1775+81T>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1775+81T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.1775+81T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177915474">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,35:59:99:995,0,645:123	0|0:58,0:58:99:0,174,2051:123	1|1:0,41:41:99:1432,123,0:123
1	177923440	.	T	G	6054.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12129817;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12129817" target="_blank">rs12129817</a>;ExAC.Info.AC=22245;ExAC.Info.AN=121540;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=9491;ExAC.Info.AC_Hom=1370;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3396A>C;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro479Pro/c.1437A>C;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1437A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.1437A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177923440">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,33:56:99:958,0,566:86	1|1:0,51:51:99:1873,153,0:86	0|0:29,0:29:87:0,87,905:86
1	177929554	.	C	T	2780.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10913472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10913472" target="_blank">rs10913472</a>;ExAC.Info.AC=56733;ExAC.Info.AN=123592;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=19743;ExAC.Info.AC_Hom=9248;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1514G>A;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.937-16G>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.937-16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.937-16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177929554">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,313,3906:127	0|0:143,0:143:99:0,430,5376:127	0|1:56,51:107:99:1409,0,1762:127
1	177929987	.	T	C	9024.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12040910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12040910" target="_blank">rs12040910</a>;ExAC.Info.AC=96316;ExAC.Info.AN=125170;ExAC.Info.AF=0.769;ExAC.Info.AC_Het=21779;ExAC.Info.AC_Hom=36967;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1081A>G;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His292Arg/c.875A>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.875A>G_p.His292Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.875A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177929987">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,36:66:99:1001,0,834:127	1|1:0,68:68:99:2272,204,0:127	0|1:25,22:47:99:672,0,705:127
1	177930096	.	T	C	7794.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs867275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=867275" target="_blank">rs867275</a>;ExAC.Info.AC=38017;ExAC.Info.AN=125142;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=25851;ExAC.Info.AC_Hom=6021;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.994-22A>G;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.788-22A>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.788-22A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.788-22A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177930096">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,42:87:99:1021,0,1178:127	1|1:0,58:58:99:2026,174,0:127	0|0:59,0:59:99:0,177,1955:127
1	177930894	.	C	T	4295.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs945641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=945641" target="_blank">rs945641</a>;ExAC.Info.AC=94342;ExAC.Info.AN=124840;ExAC.Info.AF=0.756;ExAC.Info.AC_Het=22316;ExAC.Info.AC_Hom=34790;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.849-25G>A;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.643-25G>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.643C>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.643C>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.643C>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.643C>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.643C>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.643-25G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.643-25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177930894">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,11:28:99:246,0,530:87	1|1:0,29:29:87:1040,87,0:87	0|1:20,21:41:99:530,0,539:87
1	177933443	.	G	A	1580.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3813651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813651" target="_blank">rs3813651</a>;ExAC.Info.AC=50699;ExAC.Info.AN=124786;ExAC.Info.AF=0.406;ExAC.Info.AC_Het=26900;ExAC.Info.AC_Hom=9510;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.740-29C>T;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.534-29C>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.534-29C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.534-29C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177933443">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1419:123	0|0:59,0:59:99:0,177,2126:123	0|1:24,28:52:99:809,0,691:123
1	177935050	.	T	A	918.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1889981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889981" target="_blank">rs1889981</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=25486;ExAC.Info.AN=124368;ExAC.Info.AF=0.205;ExAC.Info.AC_Het=15585;ExAC.Info.AC_Hom=2199;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.596A>T;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.390T>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.390T>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.390T>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.390T>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.390T>A;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccT;snpeff.Amino_Acid_Change=p.Pro130Pro/c.390A>T;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.390A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.390A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177935050">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2134:127	0|0:84,1:85:99:0,245,2829:127	0|1:25,18:43:99:478,0,821:127
1	177935203	.	A	G	1330.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs954502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=954502" target="_blank">rs954502</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.506-63T>C;snpeff.Gene_Name=RP4-798P15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000466953;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.300-63T>C;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Tyr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.300A>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Tyr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.300A>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.300A>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.300A>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.300A>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.300A>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_endoplasmic_reticulum_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.300A>G;snpeff.Amino_Acid_length=1060;snpeff.Gene_Name=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-798P153" target="_blank">RP4-798P153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308284;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308284;SAVANT_GENE=SEC16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC16B" target="_blank">SEC16B</a>;SAVANT_INFO=-/40.8kb/26/4.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.300-63T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC16B+c.300-63T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:177935203">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1800:127	0|0:76,0:76:99:0,228,2586:127	0|1:21,24:45:99:684,0,576:127
1	178483231	.	G	A	34044.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=538;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10913563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10913563" target="_blank">rs10913563</a>;ExAC.Info.AC=50895;ExAC.Info.AN=126700;ExAC.Info.AF=0.402;ExAC.Info.AC_Het=29967;ExAC.Info.AC_Hom=10416;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.90+19G>A;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=TEX35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319416;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319416;SAVANT_GENE=C1orf49;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf49" target="_blank">C1orf49</a>;SAVANT_INFO=+/9.6kb/9/1.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.90+19G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf49+c.90+19G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178483231">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,161:162:99:4958,477,0:127	1|1:0,195:195:99:6466,586,0:127	1|0:84,97:181:99:2522,0,2338:127
1	178489978	.	T	G	8034.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3813636;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813636" target="_blank">rs3813636</a>;ExAC.Info.AC=50932;ExAC.Info.AN=126702;ExAC.Info.AF=0.402;ExAC.Info.AC_Het=30694;ExAC.Info.AC_Hom=10433;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cGg;snpeff.Amino_Acid_Change=p.Leu171Arg/c.512T>G;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=TEX35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319416;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319416;SAVANT_GENE=C1orf49;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf49" target="_blank">C1orf49</a>;SAVANT_INFO=+/9.6kb/9/1.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.512T>G_p.Leu171Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf49+c.512T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178489978">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1304,114,0:92	1|1:0,31:31:93:1065,93,0:92	1|0:16,22:38:99:643,0,505:92
1	178492447	.	T	A	2824.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs7527160;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7527160" target="_blank">rs7527160</a>;ExAC.Info.AC=11970;ExAC.Info.AN=23958;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=4828;ExAC.Info.AC_Hom=2712;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TEX35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TEX35+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178492447">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,11:11:33:353,33,0:32	1|1:0,19:19:57:630,57,0:32	1|0:11,4:15:99:118,0,366:32
1	178514165	.	C	T	1414.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs12141152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12141152" target="_blank">rs12141152</a>;ExAC.Info.AC=7147;ExAC.Info.AN=22028;ExAC.Info.AF=0.324;ExAC.Info.AC_Het=4134;ExAC.Info.AC_Hom=1203;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TEX35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.108+2C>T;snpeff.Amino_Acid_length=106;snpeff.Gene_Name=C1orf220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319387;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-267-183C>T;snpeff.Amino_Acid_length=134;snpeff.Gene_Name=C1ORF220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367636;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.109C>T;snpeff.Amino_Acid_length=106;snpeff.Gene_Name=C1orf220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319387;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(C1orf220|ENSG00000213057|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000367636:ENST00000319387;SAVANT_GENE=AL513013.1:C1orf220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL5130131:C1orf220" target="_blank">AL5130131:C1orf220</a>;SAVANT_INFO=+/5.6kb/3/2.1kb:+/4.0kb/3/2.6kb;SAVANT_LOC=5UTR:In1/2;SAVANT_HGVS=c.-450C>T:c.108+2C>T;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=5PU:ESS;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL5130131:C1orf220+c.-450C>T:c.108+2C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178514165">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2082:127	0|0:65,0:65:99:0,195,2284:127	0|1:23,23:46:99:726,0,639:127
1	178514560	.	A	AT	2799.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34632529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34632529" target="_blank">rs34632529</a>;ExAC.Info.AC=23643;ExAC.Info.AN=68290;ExAC.Info.AF=0.346;ExAC.Info.AC_Het=6357;ExAC.Info.AC_Hom=2973;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TEX35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Amino_Acid_Change=c.*1_*2insT;snpeff.Amino_Acid_length=106;snpeff.Gene_Name=C1orf220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319387;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=54;snpeff.Amino_Acid_Change=c.-54_-55insT;snpeff.Amino_Acid_length=134;snpeff.Gene_Name=C1ORF220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367636;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367636:ENST00000319387;SAVANT_GENE=AL513013.1:C1orf220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL5130131:C1orf220" target="_blank">AL5130131:C1orf220</a>;SAVANT_INFO=+/5.6kb/3/2.1kb:+/4.0kb/3/2.6kb;SAVANT_LOC=5UTR:3UTR;SAVANT_HGVS=c.-51dupT:c.*4dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:3PU;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL5130131:C1orf220+c.-51dupT:c.*4dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178514560">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4366:127	0|0:150,0:150:99:0,451,4763:127	0|1:54,53:107:99:1423,0,1401:127
1	178514622	.	C	T	14072.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12568310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12568310" target="_blank">rs12568310</a>;ExAC.Info.AC=35164;ExAC.Info.AN=121602;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=12107;ExAC.Info.AC_Hom=3209;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TEX35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=62;snpeff.Amino_Acid_Change=c.*62C>T;snpeff.Amino_Acid_length=106;snpeff.Gene_Name=C1orf220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319387;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro3Leu/c.8C>T;snpeff.Amino_Acid_length=134;snpeff.Gene_Name=C1ORF220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEX35" target="_blank">TEX35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367636;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367636:ENST00000319387;SAVANT_GENE=AL513013.1:C1orf220;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL5130131:C1orf220" target="_blank">AL5130131:C1orf220</a>;SAVANT_INFO=+/5.6kb/3/2.1kb:+/4.0kb/3/2.6kb;SAVANT_LOC=Ex2:3UTR;SAVANT_HGVS=c.8C>T_p.Pro3Leu:c.*62C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL5130131:C1orf220+c.8C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178514622">View</a>	GT:AD:DP:GQ:PL:TP	0/1:76,68:144:99:1916,0,2315:127	0/1:75,95:170:99:2659,0,1995:127	0/1:56,49:105:99:1365,0,1589:127
1	178646884	.	C	T	1450.05	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs56088671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56088671" target="_blank">rs56088671</a>;ExAC.Info.AC=78;ExAC.Info.AN=3440;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1C>T;snpeff.Gene_Name=MIR4424;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4424" target="_blank">MIR4424</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000585257;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4424" target="_blank">MIR4424</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIR4424+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178646884">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,8:8:24:227,24,0:24	1|0:18,8:26:99:148,0,456:24	1|0:6,5:11:99:134,0,182:24
1	178745798	.	CT	C	3449.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs11323887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11323887" target="_blank">rs11323887</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-83-18delT;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367635;SAVANT_GENE=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;SAVANT_INFO=+/194.9kb/20/5.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-88delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RALGPS2+c.-88delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178745798">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:79:607,79,0:64	1|0:22,15:37:99:261,0,461:64	1|1:0,22:22:65:541,65,0:64
1	178745947	.	T	G	18406.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs6665037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665037" target="_blank">rs6665037</a>;ExAC.Info.AC=9882;ExAC.Info.AN=126698;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8974;ExAC.Info.AC_Hom=440;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acG;snpeff.Amino_Acid_Change=p.Thr16Thr/c.48T>G;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367635;SAVANT_GENE=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;SAVANT_INFO=+/194.9kb/20/5.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.48T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RALGPS2+c.48T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178745947">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4018,366,0:127	1|0:59,67:126:99:1892,0,1797:127	1|0:45,46:91:99:1266,0,1333:127
1	178848223	.	A	G	5711.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3766637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766637" target="_blank">rs3766637</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.836+96A>G;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.837A>G;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.837A>G;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.837A>G;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.837A>G;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.837A>G;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.837A>G;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.837A>G;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.837A>G;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.837A>G;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367635;SAVANT_GENE=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;SAVANT_INFO=+/194.9kb/20/5.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.836+96A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RALGPS2+c.836+96A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178848223">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1269,108,0:108	1|0:18,20:38:99:459,0,543:108	1|0:17,16:33:99:461,0,475:108
1	178858711	.	C	A	5912.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10798635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10798635" target="_blank">rs10798635</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1193-66C>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367635;SAVANT_GENE=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;SAVANT_INFO=+/194.9kb/20/5.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1193-66C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RALGPS2+c.1193-66C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178858711">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1363,114,0:114	1|0:28,24:52:99:741,0,920:114	1|0:16,14:30:99:426,0,575:114
1	178858759	.	G	A	10373.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3753534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753534" target="_blank">rs3753534</a>;ExAC.Info.AC=50404;ExAC.Info.AN=126696;ExAC.Info.AF=0.398;ExAC.Info.AC_Het=28754;ExAC.Info.AC_Hom=10792;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1193-18G>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367635;SAVANT_GENE=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;SAVANT_INFO=+/194.9kb/20/5.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1193-18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RALGPS2+c.1193-18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178858759">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2272,216,0:127	1|0:44,43:87:99:1107,0,1326:127	1|0:33,29:62:99:791,0,906:127
1	178871217	.	G	A	12720.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2275100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275100" target="_blank">rs2275100</a>;ExAC.Info.AC=16209;ExAC.Info.AN=126660;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=12728;ExAC.Info.AC_Hom=1699;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1525-24G>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_stimulation_of_nucleotide_exchange_by_RALA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525G>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_stimulation_of_nucleotide_exchange_by_RALA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525G>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_stimulation_of_nucleotide_exchange_by_RALA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525G>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_stimulation_of_nucleotide_exchange_by_RALA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525G>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_stimulation_of_nucleotide_exchange_by_RALA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525G>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525G>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525G>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525G>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525G>A;snpeff.Amino_Acid_length=583;snpeff.Gene_Name=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367635;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367635;SAVANT_GENE=RALGPS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RALGPS2" target="_blank">RALGPS2</a>;SAVANT_INFO=+/194.9kb/20/5.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1525-24G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RALGPS2+c.1525-24G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:178871217">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2335,195,0:127	1|0:45,43:88:99:1312,0,1359:127	1|0:44,40:84:99:1287,0,1319:127
1	179013204	.	G	A	3768.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11802142;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11802142" target="_blank">rs11802142</a>;ExAC.Info.AC=3492;ExAC.Info.AN=126704;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=3342;ExAC.Info.AC_Hom=75;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.222G>A;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgA;snpeff.Amino_Acid_Change=p.Arg74Arg/c.222G>A;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263733;SAVANT_GENE=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;SAVANT_INFO=+/50.7kb/8/6.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.222G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM20B+c.222G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179013204">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,295,3593:127	0|1:43,58:101:99:1903,0,1398:127	0|0:115,0:115:99:0,346,4433:127
1	179041011	.	A	G	27293.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3820163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820163" target="_blank">rs3820163</a>;ExAC.Info.AC=81778;ExAC.Info.AN=126668;ExAC.Info.AF=0.646;ExAC.Info.AC_Het=27450;ExAC.Info.AC_Hom=26921;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.999-37A>G;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.999A>G;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.999A>G;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.999A>G;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.999A>G;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.999A>G;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.999A>G;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.999A>G;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263733;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263733;SAVANT_GENE=FAM20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20B" target="_blank">FAM20B</a>;SAVANT_INFO=+/50.7kb/8/6.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.999-37A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM20B+c.999-37A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179041011">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,105:105:99:3569,315,0:127	1|1:0,125:125:99:4244,375,0:127	1|1:0,105:105:99:3699,315,0:127
1	179051300	.	T	C	5633.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=58;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2296377;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296377" target="_blank">rs2296377</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=68967;ExAC.Info.AN=104120;ExAC.Info.AF=0.662;ExAC.Info.AC_Het=6009;ExAC.Info.AC_Hom=7621;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37T>C;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=TOR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR3A" target="_blank">TOR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe13Leu/c.37T>C;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=TOR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR3A" target="_blank">TOR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367627;SAVANT_GENE=TOR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR3A" target="_blank">TOR3A</a>;SAVANT_INFO=+/14.6kb/6/2.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.37T>C_p.Phe13Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOR3A+c.37T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179051300">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:760,60,0:44	1|1:0,23:23:69:873,69,0:44	1|1:0,15:15:45:559,45,0:44
1	179052006	.	G	T	4507.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2274227;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274227" target="_blank">rs2274227</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.260-69G>T;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=TOR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR3A" target="_blank">TOR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367627;SAVANT_GENE=TOR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR3A" target="_blank">TOR3A</a>;SAVANT_INFO=+/14.6kb/6/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.260-69G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOR3A+c.260-69G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179052006">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,24:50:99:643,0,929:127	1|0:45,36:81:99:981,0,1523:127	0|0:51,0:51:99:0,153,2006:127
1	179054692	.	T	G	28339.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs912758;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=912758" target="_blank">rs912758</a>;ExAC.Info.AC=80476;ExAC.Info.AN=126370;ExAC.Info.AF=0.637;ExAC.Info.AC_Het=26349;ExAC.Info.AC_Hom=25213;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.374-71T>G;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=TOR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR3A" target="_blank">TOR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367627;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367627;SAVANT_GENE=TOR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR3A" target="_blank">TOR3A</a>;SAVANT_INFO=+/14.6kb/6/2.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.374-71T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOR3A+c.374-71T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179054692">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4430,372,0:127	1|1:0,131:131:99:4763,394,0:127	1|1:0,88:88:99:3292,265,0:127
1	179055020	.	C	T	5003.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2296376;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296376" target="_blank">rs2296376</a>;ExAC.Info.AC=16172;ExAC.Info.AN=126698;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=13788;ExAC.Info.AC_Hom=1160;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu211Leu/c.631C>T;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=TOR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR3A" target="_blank">TOR3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367627;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367627;SAVANT_GENE=TOR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR3A" target="_blank">TOR3A</a>;SAVANT_INFO=+/14.6kb/6/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.631C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOR3A+c.631C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179055020">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,19:40:99:594,0,660:127	0|0:69,0:69:99:0,207,2563:127	1|1:0,47:47:99:1596,141,0:127
1	179067071	.	C	A	9291.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10913690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10913690" target="_blank">rs10913690</a>;ExAC.Info.AC=10913;ExAC.Info.AN=17580;ExAC.Info.AF=0.621;ExAC.Info.AC_Het=2956;ExAC.Info.AC_Hom=3265;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TOR3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR3A" target="_blank">TOR3A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR3A" target="_blank">TOR3A</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOR3A+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179067071">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:919,87,0:107	1|1:0,51:51:99:1812,153,0:107	1|1:0,36:36:99:1212,108,0:107
1	179271948	.	A	AT	1305.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.118+12_118+13insT;snpeff.Amino_Acid_length=550;snpeff.Gene_Name=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367619;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367619;SAVANT_GENE=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;SAVANT_INFO=+/64.9kb/16/6.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.118+23dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SOAT1+c.118+23dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179271948">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,235,1967:127	0|1:50,36:86:99:676,0,1046:127	0|0:72,2:74:99:0,170,1873:127
1	179307047	.	T	A	862.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10913726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10913726" target="_blank">rs10913726</a>;ExAC.Info.AC=23261;ExAC.Info.AN=126128;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=15538;ExAC.Info.AC_Hom=2031;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.389+16T>A;snpeff.Amino_Acid_length=550;snpeff.Gene_Name=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367619;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367619;SAVANT_GENE=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;SAVANT_INFO=+/64.9kb/16/6.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.389+16T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SOAT1+c.389+16T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179307047">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,1030:80	0|0:35,0:35:99:0,105,1199:80	0|1:14,15:29:99:450,0,352:80
1	179310262	.	C	T	11044.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=541;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11576517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11576517" target="_blank">rs11576517</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=30595;ExAC.Info.AN=126704;ExAC.Info.AF=0.241;ExAC.Info.AC_Het=22294;ExAC.Info.AC_Hom=4149;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro199Pro/c.597C>T;snpeff.Amino_Acid_length=550;snpeff.Gene_Name=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367619;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367619;SAVANT_GENE=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;SAVANT_INFO=+/64.9kb/16/6.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.597C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SOAT1+c.597C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179310262">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,85:161:99:2460,0,2330:127	0|0:197,0:197:99:0,592,6961:127	1|0:107,76:183:99:2177,0,3284:127
1	179312102	.	T	C	11308.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=582;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4651024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4651024" target="_blank">rs4651024</a>;ExAC.Info.AC=58548;ExAC.Info.AN=126698;ExAC.Info.AF=0.462;ExAC.Info.AC_Het=31116;ExAC.Info.AC_Hom=13701;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.941+24T>C;snpeff.Amino_Acid_length=550;snpeff.Gene_Name=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367619;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367619;SAVANT_GENE=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;SAVANT_INFO=+/64.9kb/16/6.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.941+24T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SOAT1+c.941+24T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179312102">View</a>	GT:AD:DP:GQ:PL:TP	1|0:88,104:192:99:2763,0,2349:127	0|0:204,1:205:99:0,572,6834:127	1|0:95,90:185:99:2246,0,2670:127
1	179312752	.	C	T	846.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10753191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10753191" target="_blank">rs10753191</a>;ExAC.Info.AC=25057;ExAC.Info.AN=126672;ExAC.Info.AF=0.198;ExAC.Info.AC_Het=18873;ExAC.Info.AC_Hom=2803;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969C>T;snpeff.Amino_Acid_length=550;snpeff.Gene_Name=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367619;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.969C>T;snpeff.Amino_Acid_length=550;snpeff.Gene_Name=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367619;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val323Val/c.969C>T;snpeff.Amino_Acid_length=550;snpeff.Gene_Name=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367619;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367619;SAVANT_GENE=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;SAVANT_INFO=+/64.9kb/16/6.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.969C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SOAT1+c.969C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179312752">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1183:101	0|1:21,14:35:99:442,0,591:101	0|0:35,0:35:99:0,105,1198:101
1	179319580	.	T	C	22722.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=677;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3753527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753527" target="_blank">rs3753527</a>;ExAC.Info.AC=83937;ExAC.Info.AN=126698;ExAC.Info.AF=0.662;ExAC.Info.AC_Het=27553;ExAC.Info.AC_Hom=28168;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1450+14T>C;snpeff.Amino_Acid_length=550;snpeff.Gene_Name=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367619;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1451T>C;snpeff.Amino_Acid_length=550;snpeff.Gene_Name=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367619;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1451T>C;snpeff.Amino_Acid_length=550;snpeff.Gene_Name=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367619;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367619;SAVANT_GENE=SOAT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOAT1" target="_blank">SOAT1</a>;SAVANT_INFO=+/64.9kb/16/6.8kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1450+14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SOAT1+c.1450+14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179319580">View</a>	GT:AD:DP:GQ:PL:TP	0/1:94,102:196:99:3361,0,2496:127	0/1:122,112:234:99:3458,0,3402:127	0/1:128,119:247:99:3731,0,3642:127
1	179347832	.	T	C	9532.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=550;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs10798674;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10798674" target="_blank">rs10798674</a>;ExAC.Info.AC=61300;ExAC.Info.AN=126700;ExAC.Info.AF=0.484;ExAC.Info.AC_Het=29983;ExAC.Info.AC_Hom=15632;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val145Val/c.435T>C;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618;SAVANT_GENE=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;SAVANT_INFO=+/189.0kb/26/3.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.435T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1+c.435T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179347832">View</a>	GT:AD:DP:GQ:PL:TP	1|0:95,72:167:99:2080,0,2528:127	0|0:209,0:209:99:0,628,6807:127	1|0:100,74:174:99:1983,0,2722:127
1	179364391	.	A	G	4379.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs61173288;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61173288" target="_blank">rs61173288</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1109+54A>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1110A>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1110A>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1110A>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618;SAVANT_GENE=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;SAVANT_INFO=+/189.0kb/26/3.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1109+54A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1+c.1109+54A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179364391">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,29:68:99:941,0,1134:127	0|0:88,0:88:99:0,265,3234:127	1|0:45,27:72:99:785,0,1398:127
1	179401526	.	C	G	5902.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=701;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs7550638;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7550638" target="_blank">rs7550638</a>;ExAC.Info.AC=23844;ExAC.Info.AN=123838;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=10154;ExAC.Info.AC_Hom=1625;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1563+49C>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618;SAVANT_GENE=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;SAVANT_INFO=+/189.0kb/26/3.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1563+49C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1+c.1563+49C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179401526">View</a>	GT:AD:DP:GQ:PL:TP	0|0:220,0:220:99:0,660,7560:127	0|0:260,1:261:99:0,743,8874:127	0|1:111,109:220:99:2970,0,3245:127
1	179401559	.	C	T	9488.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=512;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs7550656;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7550656" target="_blank">rs7550656</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1563+82C>T;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618;SAVANT_GENE=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;SAVANT_INFO=+/189.0kb/26/3.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1563+82C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1+c.1563+82C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179401559">View</a>	GT:AD:DP:GQ:PL:TP	0|0:151,0:151:99:0,454,6073:127	0|1:102,93:195:99:2556,0,3818:127	0|1:90,76:166:99:2208,0,2776:127
1	179401564	.	CT	C	19784.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs10706073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10706073" target="_blank">rs10706073</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1563+88delT;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367618;SAVANT_GENE=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;SAVANT_INFO=+/189.0kb/26/3.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1563+99delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1+c.1563+99delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179401564">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,62:122:99:1253,0,1148:127	0|1:74,102:176:99:3344,0,1428:127	1|1:2,138:140:99:4661,378,0:127
1	179414105	.	A	C	6208.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=321;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11577579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11577579" target="_blank">rs11577579</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=35889;ExAC.Info.AN=126682;ExAC.Info.AF=0.283;ExAC.Info.AC_Het=24647;ExAC.Info.AC_Hom=5583;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564A>C;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Ctc;snpeff.Amino_Acid_Change=p.Ile522Leu/c.1564A>C;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618;SAVANT_GENE=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;SAVANT_INFO=+/189.0kb/26/3.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1564A>C_p.Ile522Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1+c.1564A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179414105">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,270,2946:127	0|1:66,54:120:99:1789,0,1958:127	0|1:67,44:111:99:1335,0,1949:127
1	179452381	.	C	T	2582.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=350;MQ=69.96;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs10494519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10494519" target="_blank">rs10494519</a>;ExAC.Info.AC=8351;ExAC.Info.AN=126684;ExAC.Info.AF=0.066;ExAC.Info.AC_Het=7492;ExAC.Info.AC_Hom=424;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2091+25C>T;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.68+5357G>A;snpeff.Amino_Acid_length=42;snpeff.Gene_Name=AL160286.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000600581;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000367618;SAVANT_GENE=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;SAVANT_INFO=+/189.0kb/26/3.6kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2091+25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1+c.2091+25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179452381">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,354,3957:127	0|1:76,52:128:99:1310,0,2136:127	0|0:104,0:104:99:0,313,3593:127
1	179460806	.	C	T	6052.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=724;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17369441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17369441" target="_blank">rs17369441</a>;ExAC.Info.AC=6470;ExAC.Info.AN=126682;ExAC.Info.AF=0.051;ExAC.Info.AC_Het=5983;ExAC.Info.AC_Hom=241;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala742Val/c.2225C>T;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618;SAVANT_GENE=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;SAVANT_INFO=+/189.0kb/26/3.6kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2225C>T_p.Ala742Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1+c.2225C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179460806">View</a>	GT:AD:DP:GQ:PL:TP	0|0:246,0:246:99:0,739,8297:127	0|1:141,115:256:99:3045,0,3962:127	0|0:222,0:222:99:0,667,7359:127
1	179461945	.	G	A	1572.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs72704430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72704430" target="_blank">rs72704430</a>;ExAC.Info.AC=6314;ExAC.Info.AN=126638;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=5498;ExAC.Info.AC_Hom=207;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2292-45G>A;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618;SAVANT_GENE=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;SAVANT_INFO=+/189.0kb/26/3.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2292-45G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1+c.2292-45G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179461945">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1881:127	0|1:26,29:55:99:805,0,861:127	0|0:50,0:50:99:0,150,1903:127
1	179504043	.	C	G	9222.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6658180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6658180" target="_blank">rs6658180</a>;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2977C>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2977C>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2977C>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2977C>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2977C>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Caa/Gaa;snpeff.Amino_Acid_Change=p.Gln993Glu/c.2977C>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618;SAVANT_GENE=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;SAVANT_INFO=+/189.0kb/26/3.6kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.2977C>G_p.Gln993Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1+c.2977C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179504043">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,56:113:99:2150,0,3338:127	0|0:146,0:146:99:0,445,9189:127	1|0:61,46:107:99:1671,0,3665:127
1	179504130	.	G	A	6061.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs6425574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6425574" target="_blank">rs6425574</a>;ExAC.Info.AC=45628;ExAC.Info.AN=125926;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=27991;ExAC.Info.AC_Hom=8680;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3031+33G>A;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618;SAVANT_GENE=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;SAVANT_INFO=+/189.0kb/26/3.6kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3031+33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1+c.3031+33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179504130">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,42:101:99:1014,0,1707:127	0|0:134,0:134:99:0,403,4805:127	1|0:63,54:117:99:1429,0,1815:127
1	179520151	.	C	T	21854.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs1410590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1410590" target="_blank">rs1410590</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3032-3496C>T;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=157;snpeff.Amino_Acid_Change=c.*157G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618:ENST00000367615;SAVANT_GENE=AXDND1:NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1:NPHS2" target="_blank">AXDND1:NPHS2</a>;SAVANT_INFO=+/189.0kb/26/3.6kb:-/25.4kb/8/1.9kb;SAVANT_LOC=In25/26:3UTR;SAVANT_HGVS=c.3032-3496C>T:c.*157G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1:NPHS2+c.3032-3496C>T:c.*157G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179520151">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3386,283,0:127	1|1:0,101:101:99:3529,303,0:127	1|1:0,96:96:99:3450,288,0:127
1	179520254	.	C	G	51124.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=654;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs1410591;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1410591" target="_blank">rs1410591</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3032-3393C>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=54;snpeff.Amino_Acid_Change=c.*54G>C;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618:ENST00000367615;SAVANT_GENE=AXDND1:NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1:NPHS2" target="_blank">AXDND1:NPHS2</a>;SAVANT_INFO=+/189.0kb/26/3.6kb:-/25.4kb/8/1.9kb;SAVANT_LOC=In25/26:3UTR;SAVANT_HGVS=c.3032-3393C>G:c.*54G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1:NPHS2+c.3032-3393C>G:c.*54G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179520254">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,201:201:99:6983,604,0:127	1|1:0,225:225:99:7883,675,0:127	1|1:0,228:228:99:8071,684,0:127
1	179520506	.	G	A	32573.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs1410592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1410592" target="_blank">rs1410592</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=78319;ExAC.Info.AN=126702;ExAC.Info.AF=0.618;ExAC.Info.AC_Het=29646;ExAC.Info.AC_Hom=24314;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3032-3141G>A;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=AXDND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367618;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala318Ala/c.954C>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1" target="_blank">AXDND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367618:ENST00000367615;SAVANT_GENE=AXDND1:NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AXDND1:NPHS2" target="_blank">AXDND1:NPHS2</a>;SAVANT_INFO=+/189.0kb/26/3.6kb:-/25.4kb/8/1.9kb;SAVANT_LOC=In25/26:Ex8;SAVANT_HGVS=c.3032-3141G>A:c.954C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AXDND1:NPHS2+c.3032-3141G>A:c.954C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179520506">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:5476,456,0:127	1|1:0,140:140:99:5191,421,0:127	1|1:0,119:119:99:4430,358,0:127
1	179526214	.	C	T	6988.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1008;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61747728;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61747728" target="_blank">rs61747728</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Focal_segmental_glomerulosclerosis|_association_with;hgmd_2014.2.OMIM_ID=604766;hgmd_2014.2.PubMed=12464671;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12464671" target="_blank">12464671</a>;ExAC.Info.AC=3746;ExAC.Info.AN=126696;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3584;ExAC.Info.AC_Hom=74;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000005701;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.686C>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.686C>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.686C>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.686C>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.686C>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.686C>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.686C>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg229Gln/c.686G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367615;SAVANT_GENE=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;SAVANT_INFO=-/25.4kb/8/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.686G>A_p.Arg229Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHS2+c.686G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179526214">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005701" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0|0:294,0:294:99:0,883,10428:127	0|0:366,0:366:99:0,1099,12942:127	0|1:208,140:348:99:3513,0,5982:127
1	179528917	.	G	A	7949.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs12401708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12401708" target="_blank">rs12401708</a>;ExAC.Info.AC=23207;ExAC.Info.AN=120626;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=8193;ExAC.Info.AC_Hom=1465;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.452-21C>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367615;SAVANT_GENE=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;SAVANT_INFO=-/25.4kb/8/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.452-21C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHS2+c.452-21C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179528917">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,55:104:99:1387,0,1364:127	0/1:54,50:104:99:1391,0,1599:127	0/1:60,36:96:99:941,0,1828:127
1	179528942	.	G	A	7645.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs12401711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12401711" target="_blank">rs12401711</a>;ExAC.Info.AC=20723;ExAC.Info.AN=114350;ExAC.Info.AF=0.181;ExAC.Info.AC_Het=5387;ExAC.Info.AC_Hom=956;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.452-46C>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367615;SAVANT_GENE=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;SAVANT_INFO=-/25.4kb/8/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.452-46C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHS2+c.452-46C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179528942">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,46:97:99:1274,0,1423:127	0/1:47,47:94:99:1415,0,1469:127	0/1:44,30:74:99:822,0,1300:127
1	179544898	.	T	C	12366.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=137;MQ=69.91;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs1079292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1079292" target="_blank">rs1079292</a>;ExAC.Info.AC=67386;ExAC.Info.AN=70306;ExAC.Info.AF=0.958;ExAC.Info.AC_Het=399;ExAC.Info.AC_Hom=5252;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.102T>C;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.102T>C;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly34Gly/c.102A>G;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367615;SAVANT_GENE=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;SAVANT_INFO=-/25.4kb/8/1.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.102A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHS2+c.102A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179544898">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1329,123,0:127	1|1:0,52:52:99:1838,156,0:127	1|1:0,44:44:99:1519,132,0:127
1	179545050	.	C	A	5070.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_2|_600995_(3)|Nephrotic_syndrome|_type_2|_600995_(3);dbSNP139.ID=rs12406197;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12406197" target="_blank">rs12406197</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_expression;hgmd_2014.2.OMIM_ID=604766;hgmd_2014.2.PubMed=16900088;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16900088" target="_blank">16900088</a>;ExAC.Info.AC=17822;ExAC.Info.AN=100320;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=2617;ExAC.Info.AC_Hom=516;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=51;snpeff.Amino_Acid_Change=c.-51G>T;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367615;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367615;SAVANT_GENE=NPHS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHS2" target="_blank">NPHS2</a>;SAVANT_INFO=-/25.4kb/8/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-51G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPHS2+c.-51G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179545050">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,20:30:99:606,0,233:127	0/1:26,26:52:99:873,0,701:127	0/1:18,20:38:99:661,0,469:127
1	179562707	.	G	A	7688.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=659;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12070589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12070589" target="_blank">rs12070589</a>;ExAC.Info.AC=7969;ExAC.Info.AN=126704;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=7271;ExAC.Info.AC_Hom=349;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro115Pro/c.345G>A;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.345G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.345G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179562707">View</a>	GT:AD:DP:GQ:PL:TP	0|0:190,0:190:99:0,571,6593:127	0|1:134,135:269:99:3863,0,3886:127	0|0:200,0:200:99:0,601,6792:127
1	179563033	.	A	G	2506.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6698734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6698734" target="_blank">rs6698734</a>;ExAC.Info.AC=8193;ExAC.Info.AN=126626;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=7328;ExAC.Info.AC_Hom=347;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.640+31A>G;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.640+31A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.640+31A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179563033">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,157,2951:127	0|1:41,34:75:99:1272,0,2051:127	0|0:81,0:81:99:0,244,4650:127
1	179563041	.	T	C	2236.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6701343;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6701343" target="_blank">rs6701343</a>;ExAC.Info.AC=6674;ExAC.Info.AN=126594;ExAC.Info.AF=0.053;ExAC.Info.AC_Het=5983;ExAC.Info.AC_Hom=241;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.640+39T>C;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.640+39T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.640+39T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179563041">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,150,2891:127	0|1:39,30:69:99:1137,0,2019:127	0|0:79,0:79:99:0,244,4635:127
1	179563058	.	A	G	1496.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6698746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6698746" target="_blank">rs6698746</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.640+56A>G;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.640+56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.640+56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179563058">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1452:127	0|1:25,23:48:99:767,0,752:127	0|0:53,0:53:99:0,159,1964:127
1	179599423	.	T	C	1496.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=56;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12048277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12048277" target="_blank">rs12048277</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.973-479T>C;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HTH_OST-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973T>C;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HTH_OST-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973T>C;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HTH_OST-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973T>C;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.973-479T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.973-479T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179599423">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,5:17:99:154,0,360:127	0/1:13,9:22:99:257,0,346:127	0/1:10,7:17:99:174,0,340:127
1	179599516	.	C	T	1548.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12030594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12030594" target="_blank">rs12030594</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.973-386C>T;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HTH_OST-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973C>T;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HTH_OST-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973C>T;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HTH_OST-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973C>T;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.973-386C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.973-386C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179599516">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,9:31:99:173,0,646:127	0/1:23,10:33:99:238,0,579:127	0/1:9,9:18:99:216,0,231:127
1	179600001	.	A	G	19341.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=692;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6704505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6704505" target="_blank">rs6704505</a>;ExAC.Info.AC=10918;ExAC.Info.AN=126704;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=9831;ExAC.Info.AC_Hom=543;snpeff.Effect=sequence_feature[domain:HTH_OST-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HTH_OST-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HTH_OST-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Gaa;snpeff.Amino_Acid_Change=p.Lys358Glu/c.1072A>G;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1072A>G_p.Lys358Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.1072A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179600001">View</a>	GT:AD:DP:GQ:PL:TP	0/1:125,87:212:99:2479,0,3284:127	0/1:146,102:248:99:2789,0,3943:127	0/1:119,113:232:99:3118,0,3320:127
1	179600042	.	G	A	11106.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=648;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72706738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72706738" target="_blank">rs72706738</a>;ExAC.Info.AC=3344;ExAC.Info.AN=126700;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=3177;ExAC.Info.AC_Hom=83;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys371Lys/c.1113G>A;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1113G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.1113G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179600042">View</a>	GT:AD:DP:GQ:PL:TP	1|0:112,76:188:99:1852,0,3248:127	0|0:246,0:246:99:0,739,8659:127	1|0:119,95:214:99:2474,0,3645:127
1	179604864	.	C	T	15664.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4628468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4628468" target="_blank">rs4628468</a>;ExAC.Info.AC=96936;ExAC.Info.AN=126704;ExAC.Info.AF=0.765;ExAC.Info.AC_Het=22183;ExAC.Info.AC_Hom=37263;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp454Asp/c.1362C>T;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1362C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.1362C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179604864">View</a>	GT:AD:DP:GQ:PL:TP	0/1:85,87:172:99:2461,0,2367:127	0/1:95,84:179:99:2391,0,2834:127	0/1:90,84:174:99:2236,0,2548:127
1	179621224	.	G	A	7084.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10913851;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10913851" target="_blank">rs10913851</a>;ExAC.Info.AC=4002;ExAC.Info.AN=126704;ExAC.Info.AF=0.032;ExAC.Info.AC_Het=3781;ExAC.Info.AC_Hom=110;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly684Gly/c.2052G>A;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2052G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.2052G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179621224">View</a>	GT:AD:DP:GQ:PL:TP	1|0:45,68:113:99:1778,0,1380:127	0|0:146,0:146:99:0,438,5137:127	1|0:59,57:116:99:1447,0,1654:127
1	179631242	.	G	A	4366.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35448215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35448215" target="_blank">rs35448215</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=24612;ExAC.Info.AN=126674;ExAC.Info.AF=0.194;ExAC.Info.AC_Het=18797;ExAC.Info.AC_Hom=2837;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu776Lys/c.2326G>A;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2326G>A_p.Glu776Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.2326G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179631242">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,18:38:99:466,0,563:127	0/1:19,27:46:99:799,0,560:127	0/1:33,26:59:99:702,0,869:127
1	179632536	.	A	G	9781.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=534;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72706766;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72706766" target="_blank">rs72706766</a>;ExAC.Info.AC=4000;ExAC.Info.AN=126704;ExAC.Info.AF=0.032;ExAC.Info.AC_Het=3781;ExAC.Info.AC_Hom=108;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser853Ser/c.2559A>G;snpeff.Amino_Acid_length=1035;snpeff.Gene_Name=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000444136;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000444136;SAVANT_GENE=TDRD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TDRD5" target="_blank">TDRD5</a>;SAVANT_INFO=+/99.4kb/18/3.7kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2559A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TDRD5+c.2559A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179632536">View</a>	GT:AD:DP:GQ:PL:TP	1|0:75,64:139:99:1881,0,2180:127	0|0:209,1:210:99:0,607,7141:127	1|0:117,68:185:99:1835,0,3588:127
1	179852074	.	T	C	14020.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1281378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1281378" target="_blank">rs1281378</a>;ExAC.Info.AC=80816;ExAC.Info.AN=126476;ExAC.Info.AF=0.639;ExAC.Info.AC_Het=27406;ExAC.Info.AC_Hom=25777;snpeff.Effect=TF_binding_site_variant[MA0139.1:CTCF];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met146Thr/c.437T>C;snpeff.Amino_Acid_length=599;snpeff.Gene_Name=TOR1AIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR1AIP1" target="_blank">TOR1AIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271583;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000435319;SAVANT_GENE=TOR1AIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR1AIP1" target="_blank">TOR1AIP1</a>;SAVANT_INFO=+/36.1kb/10/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.437T>C_p.Met146Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOR1AIP1+c.437T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179852074">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,31:87:99:805,0,1727:127	1|1:0,114:114:99:3891,343,0:127	0|1:69,39:108:99:997,0,2155:127
1	179858444	.	G	A	10949.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs2245425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2245425" target="_blank">rs2245425</a>;ExAC.Info.AC=81731;ExAC.Info.AN=126688;ExAC.Info.AF=0.645;ExAC.Info.AC_Het=28196;ExAC.Info.AC_Hom=26738;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.554-1G>A;snpeff.Amino_Acid_length=599;snpeff.Gene_Name=TOR1AIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR1AIP1" target="_blank">TOR1AIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271583;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.554G>A;snpeff.Amino_Acid_length=599;snpeff.Gene_Name=TOR1AIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR1AIP1" target="_blank">TOR1AIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271583;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;LOF=(TOR1AIP1|ENSG00000143337|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000435319;SAVANT_GENE=TOR1AIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR1AIP1" target="_blank">TOR1AIP1</a>;SAVANT_INFO=+/36.1kb/10/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.554-4G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOR1AIP1+c.554-4G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179858444">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,40:84:99:1016,0,1179:127	1|1:0,107:107:99:3483,321,0:127	0|1:40,28:68:99:746,0,1297:127
1	179876988	.	C	G	8967.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=215;MQ=69.90;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs609521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=609521" target="_blank">rs609521</a>;ExAC.Info.AC=79976;ExAC.Info.AN=126688;ExAC.Info.AF=0.631;ExAC.Info.AC_Het=28062;ExAC.Info.AC_Hom=25770;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cGt;snpeff.Amino_Acid_Change=p.Pro277Arg/c.830C>G;snpeff.Amino_Acid_length=599;snpeff.Gene_Name=TOR1AIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR1AIP1" target="_blank">TOR1AIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271583;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000435319;SAVANT_GENE=TOR1AIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR1AIP1" target="_blank">TOR1AIP1</a>;SAVANT_INFO=+/36.1kb/10/2.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.827C>G_p.Pro276Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOR1AIP1+c.827C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179876988">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,38:73:99:960,0,1004:127	1|1:0,81:81:99:2744,243,0:127	0|1:37,24:61:99:598,0,1177:127
1	179887125	.	G	A	60847.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=797;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs627897;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=627897" target="_blank">rs627897</a>;ExAC.Info.AC=120207;ExAC.Info.AN=126702;ExAC.Info.AF=0.949;ExAC.Info.AC_Het=6028;ExAC.Info.AC_Hom=57075;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala517Ala/c.1551G>A;snpeff.Amino_Acid_length=599;snpeff.Gene_Name=TOR1AIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR1AIP1" target="_blank">TOR1AIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271583;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000435319;SAVANT_GENE=TOR1AIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOR1AIP1" target="_blank">TOR1AIP1</a>;SAVANT_INFO=+/36.1kb/10/2.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1503G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOR1AIP1+c.1503G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179887125">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,255:255:99:8510,764,0:127	1|1:0,290:290:99:10334,872,0:127	1|1:0,252:252:99:8660,757,0:127
1	179989742	.	G	C	20729.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2477120;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2477120" target="_blank">rs2477120</a>;ExAC.Info.AC=80934;ExAC.Info.AN=126370;ExAC.Info.AF=0.640;ExAC.Info.AC_Het=27382;ExAC.Info.AC_Hom=26741;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Caa;snpeff.Amino_Acid_Change=p.Glu945Gln/c.2833G>C;snpeff.Amino_Acid_length=3117;snpeff.Gene_Name=CEP350;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP350" target="_blank">CEP350</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367607;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367607;SAVANT_GENE=CEP350;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP350" target="_blank">CEP350</a>;SAVANT_INFO=+/160.1kb/38/13.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2833G>C_p.Glu945Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP350+c.2833G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:179989742">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,66:133:99:2108,0,2026:127	1|1:0,149:149:99:5659,448,0:127	0|1:70,69:139:99:2028,0,2153:127
1	180013235	.	T	G	2661.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12124336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12124336" target="_blank">rs12124336</a>;ExAC.Info.AC=4243;ExAC.Info.AN=122298;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=2226;ExAC.Info.AC_Hom=111;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4549T>G;snpeff.Amino_Acid_length=3117;snpeff.Gene_Name=CEP350;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP350" target="_blank">CEP350</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367607;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4549T>G;snpeff.Amino_Acid_length=3117;snpeff.Gene_Name=CEP350;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP350" target="_blank">CEP350</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367607;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Gca;snpeff.Amino_Acid_Change=p.Ser1517Ala/c.4549T>G;snpeff.Amino_Acid_length=3117;snpeff.Gene_Name=CEP350;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP350" target="_blank">CEP350</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367607;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367607;SAVANT_GENE=CEP350;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP350" target="_blank">CEP350</a>;SAVANT_INFO=+/160.1kb/38/13.5kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.4549T>G_p.Ser1517Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP350+c.4549T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180013235">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,21:43:99:549,0,518:127	0|0:53,0:53:99:0,159,1827:127	1|0:34,28:62:99:694,0,884:127
1	180124288	.	G	C	1442.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=74;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs77647137;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77647137" target="_blank">rs77647137</a>;ExAC.Info.AC=2348;ExAC.Info.AN=61012;ExAC.Info.AF=0.038;ExAC.Info.AC_Het=1025;ExAC.Info.AC_Hom=76;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.246G>C;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.246G>C;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.246G>C;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.246G>C;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.246G>C;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcC;snpeff.Amino_Acid_Change=p.Ala82Ala/c.246G>C;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367602;SAVANT_GENE=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;SAVANT_INFO=+/49.2kb/12/9.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.246G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=QSOX1+c.246G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180124288">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,14:22:99:372,0,209:87	0|0:29,0:29:87:0,87,983:87	1|0:15,8:23:99:227,0,412:87
1	180135757	.	TG	T	3063.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10715769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10715769" target="_blank">rs10715769</a>;ExAC.Info.AC=16077;ExAC.Info.AN=126680;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=13069;ExAC.Info.AC_Hom=1447;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.366+32delG;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.367delG;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.367delG;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.367delG;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.367delG;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.367delG;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.367delG;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367602;SAVANT_GENE=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;SAVANT_INFO=+/49.2kb/12/9.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.366+34delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=QSOX1+c.366+34delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180135757">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,17:35:99:500,0,536:127	0|0:43,0:43:99:0,129,1531:127	1|0:11,26:37:99:806,0,281:127
1	180145088	.	A	G	15714.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2298206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298206" target="_blank">rs2298206</a>;ExAC.Info.AC=115314;ExAC.Info.AN=124936;ExAC.Info.AF=0.923;ExAC.Info.AC_Het=6108;ExAC.Info.AC_Hom=40095;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435A>G;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435A>G;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435A>G;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435A>G;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Thioredoxin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435A>G;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr145Thr/c.435A>G;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367602;SAVANT_GENE=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;SAVANT_INFO=+/49.2kb/12/9.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.435A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=QSOX1+c.435A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180145088">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2074,174,0:127	1|1:0,80:80:99:2742,240,0:127	1|1:0,53:53:99:1695,159,0:127
1	180163578	.	G	T	3701.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs67343209;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67343209" target="_blank">rs67343209</a>;ExAC.Info.AC=7409;ExAC.Info.AN=124106;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=6564;ExAC.Info.AC_Hom=279;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1468+51G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ERV/ALR_sulfhydryl_oxidase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1469G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ERV/ALR_sulfhydryl_oxidase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1469G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ERV/ALR_sulfhydryl_oxidase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1469G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367602;SAVANT_GENE=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;SAVANT_INFO=+/49.2kb/12/9.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1468+51G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=QSOX1+c.1468+51G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180163578">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,30:53:99:754,0,638:127	0|0:54,0:54:99:0,162,1966:127	1|0:29,19:48:99:565,0,906:127
1	180165699	.	A	C	7902.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3738115;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738115" target="_blank">rs3738115</a>;ExAC.Info.AC=4263;ExAC.Info.AN=126704;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=3653;ExAC.Info.AC_Hom=305;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Cac;snpeff.Amino_Acid_Change=p.Asn591His/c.1771A>C;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367602;SAVANT_GENE=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;SAVANT_INFO=+/49.2kb/12/9.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1771A>C_p.Asn591His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=QSOX1+c.1771A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180165699">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,50:120:99:1448,0,1903:127	1|0:60,48:108:99:1499,0,1634:127	0|0:98,0:98:99:0,295,3548:127
1	180167414	.	C	G	6874.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=258;MQ=69.96;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3738112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738112" target="_blank">rs3738112</a>;ExAC.Info.AC=2063;ExAC.Info.AN=21488;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=1447;ExAC.Info.AC_Hom=143;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1242;snpeff.Amino_Acid_Change=c.*1242C>G;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367602;SAVANT_GENE=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;SAVANT_INFO=+/49.2kb/12/9.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1242C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=QSOX1+c.*1242C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180167414">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,53:91:99:1573,0,1165:127	1|0:49,51:100:99:1464,0,1466:127	0|0:67,0:67:99:0,201,2275:127
1	180167440	.	A	G	4082.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3843273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3843273" target="_blank">rs3843273</a>;ExAC.Info.AC=2272;ExAC.Info.AN=20900;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=1631;ExAC.Info.AC_Hom=187;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1268;snpeff.Amino_Acid_Change=c.*1268A>G;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367602;SAVANT_GENE=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;SAVANT_INFO=+/49.2kb/12/9.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1268A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=QSOX1+c.*1268A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180167440">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,31:83:99:904,0,1414:127	0|0:94,0:94:99:0,282,3214:127	1|0:46,27:73:99:729,0,1303:127
1	180167644	.	T	C	2832.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7544147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7544147" target="_blank">rs7544147</a>;ExAC.Info.AC=1707;ExAC.Info.AN=21256;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=804;ExAC.Info.AC_Hom=74;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1472;snpeff.Amino_Acid_Change=c.*1472T>C;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367602;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367602;SAVANT_GENE=QSOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX1" target="_blank">QSOX1</a>;SAVANT_INFO=+/49.2kb/12/9.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1472T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=QSOX1+c.*1472T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180167644">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,19:40:99:543,0,588:116	1|0:28,20:48:99:556,0,805:116	0|0:39,0:39:99:0,117,1284:116
1	180180669	.	A	G	6073.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=67;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs164980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=164980" target="_blank">rs164980</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=164980" target="_blank">rs164980</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180180669">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,21:21:63:658,63,0:62	1|1:0,21:21:63:745,63,0:62	1|1:0,25:25:75:899,75,0:62
1	180235728	.	C	T	14973.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=637;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Pituitary_hormone_deficiency|_combined|_4|_262700_(3)|Pituitary_hormone_deficiency|_combined|_4|_262700_(3);dbSNP139.ID=rs16855642;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16855642" target="_blank">rs16855642</a>;ExAC.Info.AC=2615;ExAC.Info.AN=126702;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2465;ExAC.Info.AC_Hom=68;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450C>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=LHX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX4" target="_blank">LHX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263726;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn150Asn/c.450C>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=LHX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX4" target="_blank">LHX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263726;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450C>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=LHX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX4" target="_blank">LHX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263726;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263726;SAVANT_GENE=LHX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX4" target="_blank">LHX4</a>;SAVANT_INFO=+/50.0kb/6/7.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.450C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LHX4+c.450C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180235728">View</a>	GT:AD:DP:GQ:PL:TP	0|1:92,87:179:99:2434,0,2514:127	1|0:137,133:270:99:3599,0,3693:127	0|0:188,0:188:99:0,565,6532:127
1	180243524	.	A	G	15023.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Pituitary_hormone_deficiency|_combined|_4|_262700_(3)|Pituitary_hormone_deficiency|_combined|_4|_262700_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7536561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7536561" target="_blank">rs7536561</a>;ExAC.Info.AC=61630;ExAC.Info.AN=126704;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=29234;ExAC.Info.AC_Hom=16197;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.31+262T>C;snpeff.Gene_Name=RP5-1180C10.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1180C102" target="_blank">RP5-1180C102</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415414;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn328Ser/c.983A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=LHX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1180C102" target="_blank">RP5-1180C102</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263726;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263726;SAVANT_GENE=LHX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX4" target="_blank">LHX4</a>;SAVANT_INFO=+/50.0kb/6/7.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.983A>G_p.Asn328Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LHX4+c.983A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180243524">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,69:116:99:2340,0,1253:127	1|1:0,121:121:99:4716,364,0:127	0|0:104,0:104:99:0,313,3590:127
1	180257603	.	A	C	4510.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=480;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72712998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72712998" target="_blank">rs72712998</a>;snpeff.Effect=sequence_feature[repeat:ANK_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.744A>C;snpeff.Amino_Acid_length=282;snpeff.Gene_Name=ACBD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD6" target="_blank">ACBD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367595;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.744A>C;snpeff.Amino_Acid_length=282;snpeff.Gene_Name=ACBD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD6" target="_blank">ACBD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367595;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggG;snpeff.Amino_Acid_Change=p.Gly248Gly/c.744T>G;snpeff.Amino_Acid_length=282;snpeff.Gene_Name=ACBD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD6" target="_blank">ACBD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367595;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367595;SAVANT_GENE=ACBD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD6" target="_blank">ACBD6</a>;SAVANT_INFO=-/214.7kb/8/1.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.744T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACBD6+c.744T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180257603">View</a>	GT:AD:DP:GQ:PL:TP	0|0:144,0:144:99:0,433,4633:127	0|1:84,77:161:99:2274,0,2420:127	0|0:175,0:175:99:0,525,5800:127
1	180257692	.	A	C	8844.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2254465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2254465" target="_blank">rs2254465</a>;ExAC.Info.AC=118403;ExAC.Info.AN=125756;ExAC.Info.AF=0.942;ExAC.Info.AC_Het=4619;ExAC.Info.AC_Hom=40499;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.695-40T>G;snpeff.Amino_Acid_length=282;snpeff.Gene_Name=ACBD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD6" target="_blank">ACBD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367595;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695A>C;snpeff.Amino_Acid_length=282;snpeff.Gene_Name=ACBD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD6" target="_blank">ACBD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367595;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695A>C;snpeff.Amino_Acid_length=282;snpeff.Gene_Name=ACBD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD6" target="_blank">ACBD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367595;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367595;SAVANT_GENE=ACBD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD6" target="_blank">ACBD6</a>;SAVANT_INFO=-/214.7kb/8/1.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.695-40T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACBD6+c.695-40T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180257692">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,26:66:99:710,0,1246:127	1|1:1,64:65:99:2244,155,0:127	0|1:50,36:86:99:991,0,1611:127
1	180885430	.	T	C	28441.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10732273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10732273" target="_blank">rs10732273</a>;ExAC.Info.AC=124917;ExAC.Info.AN=125124;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=199;ExAC.Info.AC_Hom=61999;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu64Pro/c.191T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367588;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367588;SAVANT_GENE=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;SAVANT_INFO=+/38.4kb/9/9.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.191T>C_p.Leu64Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1614+c.191T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180885430">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3645,330,0:127	1|1:0,119:119:99:4406,358,0:127	1|1:0,99:99:99:3538,298,0:127
1	180897521	.	C	T	28824.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=346;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7544551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7544551" target="_blank">rs7544551</a>;ExAC.Info.AC=121449;ExAC.Info.AN=124234;ExAC.Info.AF=0.978;ExAC.Info.AC_Het=2068;ExAC.Info.AC_Hom=54847;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1062-45C>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367588;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367588;SAVANT_GENE=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;SAVANT_INFO=+/38.4kb/9/9.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1062-45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1614+c.1062-45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180897521">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:3798,351,0:127	1|1:1,128:129:99:4402,378,0:127	1|1:0,100:100:99:3316,300,0:127
1	180897569	.	C	T	3852.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3747958;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747958" target="_blank">rs3747958</a>;ExAC.Info.AC=51682;ExAC.Info.AN=125214;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=29253;ExAC.Info.AC_Hom=10948;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr355Thr/c.1065C>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367588;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367588;SAVANT_GENE=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;SAVANT_INFO=+/38.4kb/9/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1065C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1614+c.1065C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180897569">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,1:102:99:0,267,3416:127	0|1:63,70:133:99:1945,0,1638:127	0|0:94,0:94:99:0,282,3167:127
1	180905352	.	C	T	8530.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3795505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795505" target="_blank">rs3795505</a>;ExAC.Info.AC=49109;ExAC.Info.AN=125518;ExAC.Info.AF=0.391;ExAC.Info.AC_Het=28712;ExAC.Info.AC_Hom=10158;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser769Ser/c.2307C>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367588;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367588;SAVANT_GENE=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;SAVANT_INFO=+/38.4kb/9/9.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2307C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1614+c.2307C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180905352">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,65:146:99:1596,0,2498:127	0|0:172,0:172:99:0,517,6344:127	1|0:53,59:112:99:1585,0,1582:127
1	180905448	.	G	T	11185.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=494;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795504;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795504" target="_blank">rs3795504</a>;ExAC.Info.AC=54263;ExAC.Info.AN=125438;ExAC.Info.AF=0.433;ExAC.Info.AC_Het=29943;ExAC.Info.AC_Hom=12126;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttG/ttT;snpeff.Amino_Acid_Change=p.Leu801Phe/c.2403G>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367588;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367588;SAVANT_GENE=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;SAVANT_INFO=+/38.4kb/9/9.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2403G>T_p.Leu801Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1614+c.2403G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180905448">View</a>	GT:AD:DP:GQ:PL:TP	1|0:88,76:164:99:2031,0,2760:127	0|0:186,0:186:99:0,559,6680:127	1|0:75,69:144:99:1908,0,2262:127
1	180905694	.	C	T	2912.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3795503;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795503" target="_blank">rs3795503</a>;ExAC.Info.AC=38582;ExAC.Info.AN=125386;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=25754;ExAC.Info.AC_Hom=6254;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn883Asn/c.2649C>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367588;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367588;SAVANT_GENE=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;SAVANT_INFO=+/38.4kb/9/9.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2649C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1614+c.2649C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180905694">View</a>	GT:AD:DP:GQ:PL:TP	0|0:116,0:116:99:0,348,4070:127	0|0:158,0:158:99:0,474,5793:127	0|1:60,56:116:99:1475,0,1769:127
1	180913597	.	A	G	30357.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2331995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2331995" target="_blank">rs2331995</a>;ExAC.Info.AC=125030;ExAC.Info.AN=125182;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=150;ExAC.Info.AC_Hom=62282;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2005T>C;snpeff.Gene_Name=RP11-46A10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-46A105" target="_blank">RP11-46A105</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000358073;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3232A>G;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-46A105" target="_blank">RP11-46A105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367588;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3232A>G;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-46A105" target="_blank">RP11-46A105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367588;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3232A>G;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-46A105" target="_blank">RP11-46A105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367588;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn1078Asp/c.3232A>G;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-46A105" target="_blank">RP11-46A105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367588;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367588;SAVANT_GENE=KIAA1614;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1614" target="_blank">KIAA1614</a>;SAVANT_INFO=+/38.4kb/9/9.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.3232A>G_p.Asn1078Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1614+c.3232A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180913597">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3888,338,0:127	1|1:0,124:124:99:4364,372,0:127	1|1:0,122:122:99:4188,367,0:127
1	180953853	.	A	G	20022.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3747957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747957" target="_blank">rs3747957</a>;ExAC.Info.AC=72924;ExAC.Info.AN=126702;ExAC.Info.AF=0.576;ExAC.Info.AC_Het=30009;ExAC.Info.AC_Hom=21402;snpeff.Effect=sequence_feature[domain:t-SNARE_coiled-coil_homology];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:t-SNARE_coiled-coil_homology];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:t-SNARE_coiled-coil_homology];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn217Asn/c.651T>C;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258301;SAVANT_GENE=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;SAVANT_INFO=-/50.2kb/8/4.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.651T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STX6+c.651T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180953853">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:3951,360,0:127	1|0:67,71:138:99:1995,0,1792:127	1|0:57,52:109:99:1370,0,1628:127
1	180991665	.	C	G	2434.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12565758;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12565758" target="_blank">rs12565758</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.35+110G>C;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.36C>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.36C>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.36C>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.36C>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.36C>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.36C>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.36C>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.36C>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258301;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258301;SAVANT_GENE=STX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX6" target="_blank">STX6</a>;SAVANT_INFO=-/50.2kb/8/4.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.35+110G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STX6+c.35+110G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:180991665">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,21:35:99:582,0,396:116	0|0:39,0:39:99:0,117,1348:116	1|0:20,10:30:99:258,0,619:116
1	181018180	.	C	G	9837.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=379;MQ=62.72;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2236411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236411" target="_blank">rs2236411</a>;ExAC.Info.AC=10570;ExAC.Info.AN=126682;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=9437;ExAC.Info.AC_Hom=551;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.68-8C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Alpha-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Alpha-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367580;SAVANT_GENE=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;SAVANT_INFO=+/27.9kb/6/7.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.68-8C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MR1+c.68-8C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181018180">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,51:114:99:1379,0,1783:127	1|0:68,82:150:99:2360,0,1868:127	0|0:115,0:115:99:0,345,3968:127
1	181018236	.	A	G	5569.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=270;MQ=65.06;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|P|P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2236410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236410" target="_blank">rs2236410</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=21830;ExAC.Info.AN=126702;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=17436;ExAC.Info.AC_Hom=2185;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000117631;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Ligand-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Alpha-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Alpha-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His39Arg/c.116A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367580;SAVANT_GENE=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;SAVANT_INFO=+/27.9kb/6/7.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.116A>G_p.His39Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MR1+c.116A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181018236">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000117631" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:47,35:82:99:986,0,1424:127	0|0:107,0:107:99:0,321,3739:127	1|0:38,43:81:99:1337,0,1099:127
1	181021483	.	C	T	16795.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=821;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35223984;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35223984" target="_blank">rs35223984</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=2740;ExAC.Info.AN=126704;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2656;ExAC.Info.AC_Hom=42;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C1-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C1-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Alpha-3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Alpha-3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn239Asn/c.717C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367580;SAVANT_GENE=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;SAVANT_INFO=+/27.9kb/6/7.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.717C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MR1+c.717C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181021483">View</a>	GT:AD:DP:GQ:PL:TP	0|1:122,110:232:99:2970,0,3651:127	1|0:160,149:309:99:4136,0,4840:127	0|0:280,0:280:99:0,841,10169:127
1	181024404	.	G	A	37034.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=872;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3747956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747956" target="_blank">rs3747956</a>;ExAC.Info.AC=50091;ExAC.Info.AN=126704;ExAC.Info.AF=0.395;ExAC.Info.AC_Het=27089;ExAC.Info.AC_Hom=11497;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3;snpeff.Amino_Acid_Change=c.*3G>A;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367580;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367580;SAVANT_GENE=MR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MR1" target="_blank">MR1</a>;SAVANT_INFO=+/27.9kb/6/7.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*3G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MR1+c.*3G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181024404">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,282:284:99:8790,768,0:127	1|0:180,137:317:99:3658,0,5367:127	1|0:135,136:271:99:3742,0,4091:127
1	181058313	.	G	A	1426.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=56;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3747955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747955" target="_blank">rs3747955</a>;ExAC.Info.AC=44325;ExAC.Info.AN=114530;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=16011;ExAC.Info.AC_Hom=6581;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg92His/c.275G>A;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=IER5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IER5" target="_blank">IER5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367577;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367577;SAVANT_GENE=IER5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IER5" target="_blank">IER5</a>;SAVANT_INFO=+/2.3kb/1/2.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.275G>A_p.Arg92His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IER5+c.275G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181058313">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,7:17:99:175,0,252:45	1|0:9,15:24:99:459,0,263:45	0|0:15,0:15:45:0,45,510:45
1	181058618	.	C	G	896.05	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=38;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1416829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1416829" target="_blank">rs1416829</a>;cosmic68.Histology_subtype=ependymoma;ExAC.Info.AC=4578;ExAC.Info.AN=13690;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=843;ExAC.Info.AC_Hom=440;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Ggc;snpeff.Amino_Acid_Change=p.Arg194Gly/c.580C>G;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=IER5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IER5" target="_blank">IER5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367577;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367577;SAVANT_GENE=IER5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IER5" target="_blank">IER5</a>;SAVANT_INFO=+/2.3kb/1/2.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.580C>G_p.Arg194Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IER5+c.580C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181058618">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,16:21:99:429,0,138:27	1|0:6,2:8:59:59,0,163:27	0|0:9,0:9:27:0,27,352:27
1	181058643	.	A	G	3912.94	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=40;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1361365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1361365" target="_blank">rs1361365</a>;ExAC.Info.AC=11017;ExAC.Info.AN=11182;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=19;ExAC.Info.AC_Hom=1824;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln202Arg/c.605A>G;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=IER5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IER5" target="_blank">IER5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367577;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367577;SAVANT_GENE=IER5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IER5" target="_blank">IER5</a>;SAVANT_INFO=+/2.3kb/1/2.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.605A>G_p.Gln202Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IER5+c.605A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181058643">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:793,60,0:23	1|1:0,8:8:24:322,24,0:23	1|1:0,12:12:36:437,36,0:23
1	181680082	.	G	A	12570.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=690;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs17743547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17743547" target="_blank">rs17743547</a>;ExAC.Info.AC=15848;ExAC.Info.AN=125132;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=13494;ExAC.Info.AC_Hom=1154;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1056-8G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1056-8G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.1056-8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181680082">View</a>	GT:AD:DP:GQ:PL:TP	0|0:201,0:201:99:0,604,7208:127	0|1:134,133:267:99:3449,0,3911:127	0|1:112,110:222:99:2856,0,3190:127
1	181686216	.	T	C	24024.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7540850;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7540850" target="_blank">rs7540850</a>;ExAC.Info.AC=84202;ExAC.Info.AN=124924;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=25423;ExAC.Info.AC_Hom=29335;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1316-13T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1316T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1316-13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.1316-13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181686216">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2975,244,0:127	1|1:0,112:112:99:4191,337,0:127	1|1:0,87:87:99:3228,262,0:127
1	181690750	.	CT	C	656.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs371501501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371501501" target="_blank">rs371501501</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1957-143delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1957delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1957delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1957delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1957delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1957delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1957delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1957delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1957delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1957delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1957delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1957-131delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.1957-131delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181690750">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,19:70:99:208,0,1115:37	0/1:81,17:98:99:122,0,1799:37	0/1:55,10:65:37:37,0,1235:37
1	181706552	.	G	A	1738.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2280866;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2280866" target="_blank">rs2280866</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3423-109G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3423G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3423-109G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.3423-109G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181706552">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,9:22:99:264,0,433:63	1|0:10,13:23:99:387,0,331:63	0|0:21,0:21:63:0,63,801:63
1	181714466	.	AT	A	581.95	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs375841404;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=375841404" target="_blank">rs375841404</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3720-5145delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3720delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3720delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3720delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3720delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3720delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3720delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3720delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3720delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3720delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3720delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3720delT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3720-5132delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.3720-5132delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181714466">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,8:78:55:0,55,1580:47	0|1:72,13:85:49:49,0,1550:47	0|1:54,10:64:70:70,0,1085:47
1	181719679	.	C	T	13755.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=284;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs704332;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=704332" target="_blank">rs704332</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3731+56C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3732C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3732C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3732C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3732C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3732C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3732C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3732C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3732C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3732C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3732C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3732C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3731+56C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.3731+56C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181719679">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,82:83:99:2665,238,0:127	1|0:63,47:110:99:1360,0,1796:127	1|0:51,40:91:99:1131,0,1506:127
1	181725110	.	T	C	13486.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=686;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4652678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4652678" target="_blank">rs4652678</a>;ExAC.Info.AC=35347;ExAC.Info.AN=125098;ExAC.Info.AF=0.283;ExAC.Info.AC_Het=24231;ExAC.Info.AC_Hom=5519;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His1336His/c.4008T>C;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.4008T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.4008T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181725110">View</a>	GT:AD:DP:GQ:PL:TP	0|0:209,0:209:99:0,628,6767:127	0|1:112,132:244:99:3641,0,3112:127	0|1:126,107:233:99:3122,0,3649:127
1	181727030	.	A	T	4996.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12564606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12564606" target="_blank">rs12564606</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4330-53A>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4330A>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4330A>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.4330-53A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.4330-53A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181727030">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,346,4048:127	0|1:71,47:118:99:1354,0,2196:127	0|1:64,37:101:99:1164,0,1965:127
1	181732695	.	A	G	7922.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs72735265;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72735265" target="_blank">rs72735265</a>;ExAC.Info.AC=31588;ExAC.Info.AN=124850;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=22031;ExAC.Info.AC_Hom=4032;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4815+28A>G;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4816A>G;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4816A>G;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4816A>G;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4816A>G;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4816A>G;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4816A>G;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4816A>G;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4816A>G;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4816A>G;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4816A>G;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=In34/35;SAVANT_HGVS=c.4815+28A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.4815+28A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181732695">View</a>	GT:AD:DP:GQ:PL:TP	0|0:116,0:116:99:0,349,4037:127	0|1:94,83:177:99:2338,0,2658:127	0|1:70,61:131:99:1643,0,2063:127
1	181741301	.	C	T	9577.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs199930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199930" target="_blank">rs199930</a>;ExAC.Info.AC=31091;ExAC.Info.AN=126082;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=22622;ExAC.Info.AC_Hom=4172;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5073C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5073C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5073C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5073C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5073C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5073C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5073C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5073C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5073C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5073C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn1691Asn/c.5073C>T;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.5073C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.5073C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181741301">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,376,4455:127	0|1:97,79:176:99:2396,0,2813:127	0|1:58,77:135:99:2413,0,1684:127
1	181752923	.	AAGCTT	A	44844.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=665;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs36163765;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36163765" target="_blank">rs36163765</a>;ExAC.Info.AC=96562;ExAC.Info.AN=124976;ExAC.Info.AF=0.773;ExAC.Info.AC_Het=21529;ExAC.Info.AC_Hom=37248;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5470+4_5470+8delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5471_5475delAGCTT;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=In40/41;SAVANT_HGVS=c.5470+11_5470+15del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.5470+11_5470+15del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181752923">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,185:185:99:8243,558,0:127	1|0:125,137:262:99:5310,0,4787:127	1|0:106,112:218:99:4357,0,4091:127
1	181759657	.	G	A	16600.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs704326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=704326" target="_blank">rs704326</a>;ExAC.Info.AC=48272;ExAC.Info.AN=124932;ExAC.Info.AF=0.386;ExAC.Info.AC_Het=27927;ExAC.Info.AC_Hom=10157;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala1955Thr/c.5863G>A;snpeff.Amino_Acid_length=2313;snpeff.Gene_Name=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367573;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367573;SAVANT_GENE=CACNA1E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1E" target="_blank">CACNA1E</a>;SAVANT_INFO=+/315.2kb/48/7.1kb;SAVANT_LOC=Ex44;SAVANT_HGVS=c.5863G>A_p.Ala1955Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1E+c.5863G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:181759657">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,81:82:99:2679,236,0:127	1|0:57,58:115:99:1713,0,1551:127	1|0:42,53:95:99:1519,0,1162:127
1	182026813	.	G	C	10035.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=450;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12568050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12568050" target="_blank">rs12568050</a>;ExAC.Info.AC=21416;ExAC.Info.AN=126704;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=17299;ExAC.Info.AC_Hom=2058;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaC/aaG;snpeff.Amino_Acid_Change=p.Asn111Lys/c.333C>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=ZNF648;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF648" target="_blank">ZNF648</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339948;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339948;SAVANT_GENE=ZNF648;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF648" target="_blank">ZNF648</a>;SAVANT_INFO=-/7.1kb/2/3.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.333C>G_p.Asn111Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF648+c.333C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182026813">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,71:137:99:2037,0,1883:127	0|0:161,0:161:99:0,484,5666:127	1|0:75,77:152:99:2328,0,2133:127
1	182027022	.	C	T	5707.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12564283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12564283" target="_blank">rs12564283</a>;ExAC.Info.AC=21361;ExAC.Info.AN=126704;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=17236;ExAC.Info.AC_Hom=2057;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu42Lys/c.124G>A;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=ZNF648;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF648" target="_blank">ZNF648</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339948;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339948;SAVANT_GENE=ZNF648;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF648" target="_blank">ZNF648</a>;SAVANT_INFO=-/7.1kb/2/3.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.124G>A_p.Glu42Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF648+c.124G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182027022">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,45:88:99:1214,0,1268:127	0|0:101,0:101:99:0,303,3549:127	1|0:44,37:81:99:1016,0,1237:127
1	182354850	.	A	G	13220.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=750;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Glutamine_deficiency|_congenital|_610015_(3);dbSNP139.ID=rs2296520;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296520" target="_blank">rs2296520</a>;ExAC.Info.AC=72678;ExAC.Info.AN=126704;ExAC.Info.AF=0.574;ExAC.Info.AC_Het=29324;ExAC.Info.AC_Hom=21657;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.603+45T>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=GLUL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLUL" target="_blank">GLUL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417584;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311223;SAVANT_GENE=GLUL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLUL" target="_blank">GLUL</a>;SAVANT_INFO=-/10.5kb/8/4.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.603+45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLUL+c.603+45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182354850">View</a>	GT:AD:DP:GQ:PL:TP	0|0:278,0:278:99:0,834,8381:127	0|1:156,121:277:99:3532,0,4095:127	0|1:89,106:195:99:3098,0,2343:127
1	182355046	.	A	G	4866.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Glutamine_deficiency|_congenital|_610015_(3);dbSNP139.ID=rs2296519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296519" target="_blank">rs2296519</a>;ExAC.Info.AC=72478;ExAC.Info.AN=126518;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=29101;ExAC.Info.AC_Hom=21442;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.476-24T>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=GLUL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLUL" target="_blank">GLUL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417584;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311223;SAVANT_GENE=GLUL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLUL" target="_blank">GLUL</a>;SAVANT_INFO=-/10.5kb/8/4.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.476-24T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLUL+c.476-24T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182355046">View</a>	GT:AD:DP:GQ:PL:TP	0|0:121,0:121:99:0,363,3934:127	0|1:48,59:107:99:1550,0,1264:127	0|1:40,34:74:99:903,0,1082:127
1	182356399	.	A	G	9784.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=495;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Glutamine_deficiency|_congenital|_610015_(3);dbSNP139.ID=rs1058111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1058111" target="_blank">rs1058111</a>;ExAC.Info.AC=72699;ExAC.Info.AN=126704;ExAC.Info.AF=0.574;ExAC.Info.AC_Het=29343;ExAC.Info.AC_Hom=21672;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser65Ser/c.195T>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=GLUL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLUL" target="_blank">GLUL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417584;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311223;SAVANT_GENE=GLUL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLUL" target="_blank">GLUL</a>;SAVANT_INFO=-/10.5kb/8/4.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.195T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLUL+c.195T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182356399">View</a>	GT:AD:DP:GQ:PL:TP	0|0:160,0:160:99:0,481,5288:127	0|1:80,106:186:99:3123,0,2187:127	0|1:86,63:149:99:1789,0,2374:127
1	182369078	.	G	A	3900.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6698722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6698722" target="_blank">rs6698722</a>;ExAC.Info.AC=103224;ExAC.Info.AN=126704;ExAC.Info.AF=0.815;ExAC.Info.AC_Het=18723;ExAC.Info.AC_Hom=42228;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro181Pro/c.543C>T;snpeff.Amino_Acid_length=273;snpeff.Gene_Name=TEDDM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEDDM1" target="_blank">TEDDM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367565;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367565;SAVANT_GENE=TEDDM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEDDM1" target="_blank">TEDDM1</a>;SAVANT_INFO=-/2.5kb/1/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.543C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TEDDM1+c.543C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182369078">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,213,2320:127	0|1:46,37:83:99:1046,0,1411:127	0|1:40,33:73:99:924,0,1183:127
1	182369233	.	A	G	7408.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6674281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6674281" target="_blank">rs6674281</a>;ExAC.Info.AC=72736;ExAC.Info.AN=126704;ExAC.Info.AF=0.574;ExAC.Info.AC_Het=29330;ExAC.Info.AC_Hom=21696;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.388A>G;snpeff.Amino_Acid_length=273;snpeff.Gene_Name=TEDDM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEDDM1" target="_blank">TEDDM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367565;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Cat;snpeff.Amino_Acid_Change=p.Tyr130His/c.388T>C;snpeff.Amino_Acid_length=273;snpeff.Gene_Name=TEDDM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEDDM1" target="_blank">TEDDM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367565;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367565;SAVANT_GENE=TEDDM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEDDM1" target="_blank">TEDDM1</a>;SAVANT_INFO=-/2.5kb/1/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.388T>C_p.Tyr130His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TEDDM1+c.388T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182369233">View</a>	GT:AD:DP:GQ:PL:TP	0|0:131,0:131:99:0,394,4164:127	0|1:93,70:163:99:2005,0,2651:127	0|1:45,56:101:99:1719,0,1283:127
1	182423146	.	G	A	4406.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=401;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41299607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41299607" target="_blank">rs41299607</a>;ExAC.Info.AC=731;ExAC.Info.AN=28188;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=698;ExAC.Info.AC_Hom=11;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp23Asn/c.67G>A;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=RGSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294854;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGSL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182423146">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,384,4195:127	0|1:83,78:161:99:2222,0,2177:127	0|0:112,0:112:99:0,336,3745:127
1	182429728	.	T	C	8107.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs266508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=266508" target="_blank">rs266508</a>;ExAC.Info.AC=10382;ExAC.Info.AN=14848;ExAC.Info.AF=0.699;ExAC.Info.AC_Het=1912;ExAC.Info.AC_Hom=3436;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.301+460T>C;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=RGSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294854;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGSL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182429728">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1266,105,0:89	1|1:0,30:30:90:1085,90,0:89	1|1:0,40:40:99:1398,120,0:89
1	182496829	.	A	G	14253.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7535533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7535533" target="_blank">rs7535533</a>;ExAC.Info.AC=9855;ExAC.Info.AN=29172;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=5957;ExAC.Info.AC_Hom=1717;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2047A>G;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=RGSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294854;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2047A>G;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=RGSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294854;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2047A>G;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=RGSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294854;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Gta;snpeff.Amino_Acid_Change=p.Ile683Val/c.2047A>G;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=RGSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294854;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGSL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182496829">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,45:106:99:1285,0,1703:127	1|1:0,132:132:99:4837,397,0:127	0|0:110,0:110:99:0,330,3685:127
1	182501933	.	C	A	51534.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=686;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs266534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=266534" target="_blank">rs266534</a>;ExAC.Info.AC=17341;ExAC.Info.AN=29556;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=5950;ExAC.Info.AC_Hom=5043;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2494+7C>A;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=RGSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294854;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2495C>A;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=RGSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294854;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGSL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182501933">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,202:202:99:6326,606,0:127	1|1:0,282:282:99:9190,847,0:127	1|1:0,202:202:99:6600,607,0:127
1	182520362	.	TCA	T	1279.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10606048;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10606048" target="_blank">rs10606048</a>;ExAC.Info.AC=2209;ExAC.Info.AN=29048;ExAC.Info.AF=0.076;ExAC.Info.AC_Het=1906;ExAC.Info.AC_Hom=107;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3043+19_3043+20delCA;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=RGSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294854;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGSL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182520362">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1893:125	0|0:53,0:53:99:0,160,2404:125	0|1:16,17:33:99:663,0,594:125
1	182522552	.	C	T	4147.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=447;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs266544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=266544" target="_blank">rs266544</a>;ExAC.Info.AC=7519;ExAC.Info.AN=29812;ExAC.Info.AF=0.252;ExAC.Info.AC_Het=5128;ExAC.Info.AC_Hom=993;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3044-38C>T;snpeff.Amino_Acid_length=1076;snpeff.Gene_Name=RGSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294854;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1" target="_blank">RGSL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGSL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182522552">View</a>	GT:AD:DP:GQ:PL:TP	0|0:129,0:129:99:0,388,4640:127	0|0:164,0:164:99:0,492,5618:127	0|1:80,74:154:99:2093,0,2300:127
1	182544581	.	C	T	11260.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=549;MQ=69.98;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Prostate_cancer_1|_601518_(3);dbSNP139.ID=rs36053738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36053738" target="_blank">rs36053738</a>;ExAC.Info.AC=3950;ExAC.Info.AN=126704;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3700;ExAC.Info.AC_Hom=125;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys724Lys/c.2172G>A;snpeff.Amino_Acid_length=741;snpeff.Gene_Name=RNASEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNASEL" target="_blank">RNASEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367559;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367559;SAVANT_GENE=RNASEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNASEL" target="_blank">RNASEL</a>;SAVANT_INFO=-/15.6kb/7/4.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.2172G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNASEL+c.2172G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182544581">View</a>	GT:AD:DP:GQ:PL:TP	1|0:93,88:181:99:2422,0,2743:127	0|0:191,0:191:99:0,574,7154:127	1|0:98,79:177:99:2221,0,3173:127
1	182549019	.	A	G	12623.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Prostate_cancer_1|_601518_(3);dbSNP139.ID=rs533259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=533259" target="_blank">rs533259</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1905+1341T>C;snpeff.Amino_Acid_length=741;snpeff.Gene_Name=RNASEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNASEL" target="_blank">RNASEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367559;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367559;SAVANT_GENE=RNASEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNASEL" target="_blank">RNASEL</a>;SAVANT_INFO=-/15.6kb/7/4.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1905+1341T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNASEL+c.1905+1341T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182549019">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2088,182,0:127	1|0:43,35:78:99:989,0,1387:127	1|1:0,54:54:99:1853,162,0:127
1	182551337	.	A	C	22735.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=731;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Prostate_cancer_1|_601518_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs627928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=627928" target="_blank">rs627928</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Prostate_cancer|_association_with;hgmd_2014.2.OMIM_ID=180435;hgmd_2014.2.PubMed=12915880;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12915880" target="_blank">12915880</a>;ExAC.Info.AC=68409;ExAC.Info.AN=126702;ExAC.Info.AF=0.540;ExAC.Info.AC_Het=30380;ExAC.Info.AC_Hom=19001;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaG;snpeff.Amino_Acid_Change=p.Asp541Glu/c.1623T>G;snpeff.Amino_Acid_length=741;snpeff.Gene_Name=RNASEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNASEL" target="_blank">RNASEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367559;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367559;SAVANT_GENE=RNASEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNASEL" target="_blank">RNASEL</a>;SAVANT_INFO=-/15.6kb/7/4.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1623T>G_p.Asp541Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNASEL+c.1623T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182551337">View</a>	GT:AD:DP:GQ:PL:TP	0/1:117,99:216:99:2923,0,3305:127	0/1:152,128:280:99:3806,0,4453:127	0/1:126,109:235:99:3378,0,3587:127
1	182554557	.	C	T	13144.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=601;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Prostate_cancer_1|_601518_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs486907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=486907" target="_blank">rs486907</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Prostate_cancer|_association_with;hgmd_2014.2.OMIM_ID=180435;hgmd_2014.2.PubMed=11941539;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11941539" target="_blank">11941539</a>;ExAC.Info.AC=39343;ExAC.Info.AN=126702;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=26026;ExAC.Info.AC_Hom=6650;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000013880;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg462Gln/c.1385G>A;snpeff.Amino_Acid_length=741;snpeff.Gene_Name=RNASEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNASEL" target="_blank">RNASEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367559;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367559;SAVANT_GENE=RNASEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNASEL" target="_blank">RNASEL</a>;SAVANT_INFO=-/15.6kb/7/4.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1385G>A_p.Arg462Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNASEL+c.1385G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182554557">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013880" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0|1:85,72:157:99:2036,0,2372:127	1|0:112,110:222:99:3237,0,3305:127	0|0:222,0:222:99:0,666,7419:127
1	182556036	.	A	G	20220.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1024;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Prostate_cancer_1|_601518_(3);dbSNP139.ID=rs3738579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738579" target="_blank">rs3738579</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=95;snpeff.Amino_Acid_Change=c.-95T>C;snpeff.Amino_Acid_length=741;snpeff.Gene_Name=RNASEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNASEL" target="_blank">RNASEL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367559;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367559;SAVANT_GENE=RNASEL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNASEL" target="_blank">RNASEL</a>;SAVANT_INFO=-/15.6kb/7/4.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-95T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNASEL+c.-95T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182556036">View</a>	GT:AD:DP:GQ:PL:TP	0|1:161,158:319:99:4574,0,4310:127	1|0:206,172:378:99:5111,0,6062:127	0|0:327,0:327:99:0,982,11088:127
1	182569626	.	T	C	24659.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1144566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1144566" target="_blank">rs1144566</a>;ExAC.Info.AC=124486;ExAC.Info.AN=126704;ExAC.Info.AF=0.982;ExAC.Info.AC_Het=2150;ExAC.Info.AC_Hom=61165;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.410T>C;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.410T>C;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.410T>C;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.410T>C;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His137Arg/c.410A>G;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367558;SAVANT_GENE=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;SAVANT_INFO=-/5.8kb/5/2.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.410A>G_p.His137Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS16+c.410A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182569626">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3194,293,0:127	1|1:0,106:106:99:3512,318,0:127	1|1:0,96:96:99:3267,288,0:127
1	182571277	.	C	T	4115.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs569790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=569790" target="_blank">rs569790</a>;ExAC.Info.AC=47030;ExAC.Info.AN=126686;ExAC.Info.AF=0.371;ExAC.Info.AC_Het=28644;ExAC.Info.AC_Hom=9173;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.221-10G>A;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221C>T;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221C>T;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221C>T;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221C>T;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221C>T;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367558;SAVANT_GENE=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;SAVANT_INFO=-/5.8kb/5/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.221-10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS16+c.221-10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182571277">View</a>	GT:AD:DP:GQ:PL:TP	1|0:45,35:80:99:936,0,1159:127	0|0:75,0:75:99:0,225,2533:127	1|0:41,24:65:99:601,0,1107:127
1	182573227	.	T	C	15557.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs509476;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=509476" target="_blank">rs509476</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.44+124A>G;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367558;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367558;SAVANT_GENE=RGS16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS16" target="_blank">RGS16</a>;SAVANT_INFO=-/5.8kb/5/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.44+124A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS16+c.44+124A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182573227">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2145,180,0:127	1|1:0,72:72:99:2539,216,0:127	1|1:0,44:44:99:1595,132,0:127
1	182778367	.	G	A	32830.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs971040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=971040" target="_blank">rs971040</a>;ExAC.Info.AC=18000;ExAC.Info.AN=18022;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=11;ExAC.Info.AC_Hom=7172;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.231-2924G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=NPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPL" target="_blank">NPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367553;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367553;SAVANT_GENE=NPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPL" target="_blank">NPL</a>;SAVANT_INFO=+/37.9kb/12/2.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.231-2924G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPL+c.231-2924G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182778367">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:4177,352,0:127	1|1:0,146:146:99:5339,438,0:127	1|1:0,121:121:99:4277,364,0:127
1	182784022	.	T	C	14262.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2275171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275171" target="_blank">rs2275171</a>;ExAC.Info.AC=74502;ExAC.Info.AN=126684;ExAC.Info.AF=0.588;ExAC.Info.AC_Het=29675;ExAC.Info.AC_Hom=22158;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.364+29T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=NPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPL" target="_blank">NPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367553;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367553;SAVANT_GENE=NPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPL" target="_blank">NPL</a>;SAVANT_INFO=+/37.9kb/12/2.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.364+29T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPL+c.364+29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182784022">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,75:77:99:2412,197,0:127	1|0:63,63:126:99:1869,0,1865:127	1|0:29,51:80:99:1591,0,813:127
1	182850727	.	T	C	15454.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6677840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6677840" target="_blank">rs6677840</a>;ExAC.Info.AC=124659;ExAC.Info.AN=125116;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=440;ExAC.Info.AC_Hom=62065;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr953Thr/c.2859T>C;snpeff.Amino_Acid_length=1270;snpeff.Gene_Name=DHX9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHX9" target="_blank">DHX9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367549;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367549;SAVANT_GENE=DHX9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHX9" target="_blank">DHX9</a>;SAVANT_INFO=+/48.4kb/28/4.2kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2859T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHX9+c.2859T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182850727">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1981,168,0:127	1|1:0,56:56:99:2069,168,0:127	1|1:0,85:85:99:2969,255,0:127
1	182993025	.	C	T	22016.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10911194;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10911194" target="_blank">rs10911194</a>;ExAC.Info.AC=69319;ExAC.Info.AN=126128;ExAC.Info.AF=0.550;ExAC.Info.AC_Het=29369;ExAC.Info.AC_Hom=19084;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174C>T;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174C>T;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174C>T;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174C>T;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala58Ala/c.174C>T;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.174C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.174C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:182993025">View</a>	GT:AD:DP:GQ:PL:TP	0|1:85,72:157:99:1954,0,2392:127	1|1:0,163:163:99:5500,489,0:127	0|1:61,68:129:99:2031,0,1740:127
1	183072590	.	T	C	14785.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2296288;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296288" target="_blank">rs2296288</a>;ExAC.Info.AC=72622;ExAC.Info.AN=126704;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=30111;ExAC.Info.AC_Hom=21251;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys182Cys/c.546T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.546T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.546T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183072590">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,50:102:99:1488,0,1356:127	1|1:2,114:116:99:3863,299,0:127	0|1:52,47:99:99:1264,0,1556:127
1	183084607	.	A	G	14379.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3736888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736888" target="_blank">rs3736888</a>;ExAC.Info.AC=72146;ExAC.Info.AN=126678;ExAC.Info.AF=0.570;ExAC.Info.AC_Het=30162;ExAC.Info.AC_Hom=20716;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1211-48A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1211-48A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.1211-48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183084607">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,43:79:99:1686,0,2104:127	1|1:0,76:76:99:3438,232,0:127	0|1:35,36:71:99:1431,0,2082:127
1	183084608	.	C	A	14379.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2027082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2027082" target="_blank">rs2027082</a>;ExAC.Info.AC=72148;ExAC.Info.AN=126680;ExAC.Info.AF=0.570;ExAC.Info.AC_Het=30169;ExAC.Info.AC_Hom=20722;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1211-47C>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211C>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211C>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211C>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211C>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1211C>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1211-47C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.1211-47C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183084608">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,43:81:99:1686,0,2104:127	1|1:0,77:77:99:3438,232,0:127	0|1:34,36:70:99:1431,0,2082:127
1	183085755	.	A	G	25341.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs20563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=20563" target="_blank">rs20563</a>;ExAC.Info.AC=72458;ExAC.Info.AN=126698;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=30109;ExAC.Info.AC_Hom=21166;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile458Val/c.1372A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1372A>G_p.Ile458Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.1372A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183085755">View</a>	GT:AD:DP:GQ:PL:TP	0|1:95,81:176:99:2293,0,2404:127	1|1:0,181:181:99:6567,544,0:127	0|1:86,82:168:99:2472,0,2399:127
1	183086757	.	A	C	8766.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2296292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296292" target="_blank">rs2296292</a>;ExAC.Info.AC=72462;ExAC.Info.AN=126704;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=30108;ExAC.Info.AC_Hom=21170;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1776A>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1776A>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1776A>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1776A>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_IV_type_A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1776A>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcC;snpeff.Amino_Acid_Change=p.Ala592Ala/c.1776A>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1776A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.1776A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183086757">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,34:53:99:998,0,596:127	1|1:0,64:64:99:2266,192,0:127	0|1:33,22:55:99:627,0,1055:127
1	183093875	.	T	C	9644.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs20557;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=20557" target="_blank">rs20557</a>;ExAC.Info.AC=72444;ExAC.Info.AN=126704;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=30113;ExAC.Info.AC_Hom=21137;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn837Asn/c.2511T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2511T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.2511T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183093875">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,34:81:99:1047,0,1375:127	1|1:0,69:69:99:2553,207,0:127	0|1:43,29:72:99:885,0,1339:127
1	183094547	.	T	C	12566.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs20558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=20558" target="_blank">rs20558</a>;ExAC.Info.AC=72456;ExAC.Info.AN=126704;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=30112;ExAC.Info.AC_Hom=21169;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu888Pro/c.2663T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2663T>C_p.Leu888Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.2663T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183094547">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,24:62:99:692,0,1140:127	1|1:0,101:101:99:3637,303,0:127	0|1:47,39:86:99:1110,0,1467:127
1	183095185	.	TAA	T	8066.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs55856623;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55856623" target="_blank">rs55856623</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2802-69_2802-68delAA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2802_2803delAA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2802_2803delAA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2802-57_2802-56delAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.2802-57_2802-56delAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183095185">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,27:55:99:747,0,747:127	1|1:0,56:56:99:1963,167,0:127	0|1:30,31:61:99:836,0,831:127
1	183095234	.	A	G	15584.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1886501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1886501" target="_blank">rs1886501</a>;ExAC.Info.AC=72408;ExAC.Info.AN=126684;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=30051;ExAC.Info.AC_Hom=21044;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2802-21A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2802A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2802A>G;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2802-21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.2802-21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183095234">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,59:113:99:1531,0,1415:127	1|1:0,113:113:99:4167,340,0:127	0|1:55,49:104:99:1507,0,1609:127
1	183097956	.	G	GTTA	5930.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs34133998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34133998" target="_blank">rs34133998</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3280+72_3280+73insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" 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target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3281_3282insTTA;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.3280+72_3280+74dupTTA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.3280+72_3280+74dupTTA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183097956">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,17:35:99:631,0,847:104	1|1:0,35:35:99:1542,105,0:104	0|1:15,16:31:99:620,0,725:104
1	183099560	.	G	A	11495.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=591;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs20559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=20559" target="_blank">rs20559</a>;ExAC.Info.AC=5330;ExAC.Info.AN=126704;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=5011;ExAC.Info.AC_Hom=159;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" 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target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg1121Gln/c.3362G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.3362G>A_p.Arg1121Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.3362G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183099560">View</a>	GT:AD:DP:GQ:PL:TP	0|1:121,93:214:99:2382,0,3388:127	1|0:99,80:179:99:2197,0,2819:127	0|0:198,0:198:99:0,595,6804:127
1	183101686	.	G	A	21379.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs12095664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12095664" target="_blank">rs12095664</a>;ExAC.Info.AC=72442;ExAC.Info.AN=126696;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=30074;ExAC.Info.AC_Hom=21130;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3704+14G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3705G>A;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.3704+14G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.3704+14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183101686">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,67:125:99:1774,0,1900:127	1|1:0,168:168:99:5952,505,0:127	0|1:66,71:137:99:2080,0,2000:127
1	183104340	.	AT	A	7185.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=204;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs35182436;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35182436" target="_blank">rs35182436</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4114+50delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4115delT;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.4114+60delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.4114+60delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183104340">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,32:68:99:682,0,808:127	1|1:0,73:73:99:1973,218,0:127	0|1:35,28:63:99:559,0,780:127
1	183105534	.	T	C	18643.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs20560;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=20560" target="_blank">rs20560</a>;ExAC.Info.AC=73474;ExAC.Info.AN=126704;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=30274;ExAC.Info.AC_Hom=21553;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg1376Arg/c.4128T>C;snpeff.Amino_Acid_length=1609;snpeff.Gene_Name=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258341;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258341;SAVANT_GENE=LAMC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC1" target="_blank">LAMC1</a>;SAVANT_INFO=+/122.1kb/28/7.9kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.4128T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC1+c.4128T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183105534">View</a>	GT:AD:DP:GQ:PL:TP	0|1:66,41:107:99:1157,0,1848:127	1|1:0,146:146:99:5180,438,0:127	0|1:49,61:110:99:1723,0,1288:127
1	183155482	.	C	A	6375.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs684527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=684527" target="_blank">rs684527</a>;ExAC.Info.AC=36425;ExAC.Info.AN=124100;ExAC.Info.AF=0.294;ExAC.Info.AC_Het=20663;ExAC.Info.AC_Hom=4701;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=6;snpeff.Amino_Acid_Change=c.-6C>A;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264144;SAVANT_GENE=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;SAVANT_INFO=+/58.6kb/23/5.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-6C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC2+c.-6C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183155482">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,16:33:99:518,0,531:120	1|1:0,40:40:99:1542,120,0:120	0|1:11,23:34:99:789,0,353:120
1	183176970	.	G	GT	2255.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.500;AN=4;DP=73;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs11480551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11480551" target="_blank">rs11480551</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.80-45_80-44insT;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000264144;SAVANT_GENE=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;SAVANT_INFO=+/58.6kb/23/5.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.80-31dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC2+c.80-31dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183176970">View</a>	GT:AD:DP:GQ:PL	./0:16,7:34:82:456,82,316	./1:2,7:25:99:667,285,260	0/1:10,2:14:12:84,0,151
1	183176970	.	G	GTT	2255.98	PASS	InheritancePattern=Normal;AC=2;AF=0.500;AN=4;DP=73;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=./1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs10668798;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10668798" target="_blank">rs10668798</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.80-45_80-44insTT;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000264144;SAVANT_GENE=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;SAVANT_INFO=+/58.6kb/23/5.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.80-32_80-31dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC2+c.80-32_80-31dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183176970">View</a>	GT:AD:DP:GQ:PL	0/1:16,11:34:82:456,0,408	./1:2,16:25:99:667,129,116	./0:10,2:14:12:84,12,265
1	183177218	.	A	G	31056.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=645;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs647347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=647347" target="_blank">rs647347</a>;ExAC.Info.AC=59974;ExAC.Info.AN=126704;ExAC.Info.AF=0.473;ExAC.Info.AC_Het=31203;ExAC.Info.AC_Hom=14359;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.268+14A>G;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.269A>G;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.269A>G;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.269A>G;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.269A>G;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264144;SAVANT_GENE=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;SAVANT_INFO=+/58.6kb/23/5.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.268+14A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC2+c.268+14A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183177218">View</a>	GT:AD:DP:GQ:PL:TP	0|1:98,107:205:99:3134,0,2615:127	1|1:0,234:234:99:8540,703,0:127	0|1:95,111:206:99:3327,0,2560:127
1	183184613	.	C	T	3682.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=725;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs72731403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72731403" target="_blank">rs72731403</a>;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294C>T;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294C>T;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294C>T;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294C>T;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn98Asn/c.294C>T;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264144;SAVANT_GENE=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;SAVANT_INFO=+/58.6kb/23/5.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.294C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC2+c.294C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183184613">View</a>	GT:AD:DP:GQ:PL:TP	0|0:242,1:243:99:0,696,8262:127	0|0:251,0:251:99:0,754,9174:127	0|1:150,81:231:99:1860,0,4511:127
1	183184663	.	G	A	4870.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17481405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17481405" target="_blank">rs17481405</a>;ExAC.Info.AC=1274;ExAC.Info.AN=126704;ExAC.Info.AF=0.010;ExAC.Info.AC_Het=1248;ExAC.Info.AC_Hom=13;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344G>A;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344G>A;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg115Gln/c.344G>A;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264144;SAVANT_GENE=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;SAVANT_INFO=+/58.6kb/23/5.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.344G>A_p.Arg115Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC2+c.344G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183184663">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,427,5157:127	0|1:96,85:181:99:2454,0,2876:127	0|0:168,0:168:99:0,505,6094:127
1	183205523	.	CAAA	C	3187.15	PASS	InheritancePattern=notInChild;AC=1;AF=0.333;AN=3;DP=64;MQ=69.96;MQ0=0;culprit=DP;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=./1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2457-71_2457-69delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2459delAAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000264144;SAVANT_GENE=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;SAVANT_INFO=+/58.6kb/23/5.1kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2457-56_2457-54delAAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC2+c.2457-56_2457-54delAAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183205523">View</a>	GT:AD:DP:GQ:PL	./0:5,4:19:87:336,181,368	./1:1,15:29:99:884,310,417	./0:5,4:16:41:237,103,243
1	183205523	.	CAAA	CA	3187.15	PASS	InheritancePattern=Normal;AC=3;AF=0.600;AN=5;DP=64;MQ=69.96;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2457-70_2457-69delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_II_and_I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457_2458delAA;snpeff.Amino_Acid_length=1193;snpeff.Gene_Name=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264144;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000264144;SAVANT_GENE=LAMC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMC2" target="_blank">LAMC2</a>;SAVANT_INFO=+/58.6kb/23/5.1kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2457-55_2457-54delAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMC2+c.2457-55_2457-54delAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183205523">View</a>	GT:AD:DP:GQ:PL	0/1:5,10:19:87:336,0,96	./1:1,13:29:99:884,283,219	0/1:5,7:16:41:237,0,58
1	183486859	.	G	A	38294.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=492;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs789169;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=789169" target="_blank">rs789169</a>;ExAC.Info.AC=114502;ExAC.Info.AN=126702;ExAC.Info.AF=0.904;ExAC.Info.AC_Het=10653;ExAC.Info.AC_Hom=51900;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216G>A;snpeff.Amino_Acid_length=1178;snpeff.Gene_Name=SMG7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG7" target="_blank">SMG7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000507469;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu72Leu/c.216G>A;snpeff.Amino_Acid_length=1178;snpeff.Gene_Name=SMG7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG7" target="_blank">SMG7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000507469;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000507469;SAVANT_GENE=SMG7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG7" target="_blank">SMG7</a>;SAVANT_INFO=+/81.7kb/23/4.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.216G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMG7+c.216G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183486859">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,154:154:99:4962,463,0:127	1|1:0,199:199:99:6560,598,0:127	1|1:0,139:139:99:4662,418,0:127
1	183534935	.	C	T	3944.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Chronic_granulomatous_disease_due_to_deficiency_of_NCF-2|_233710_(3);dbSNP139.ID=rs2296164;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296164" target="_blank">rs2296164</a>;ExAC.Info.AC=61104;ExAC.Info.AN=126704;ExAC.Info.AF=0.482;ExAC.Info.AC_Het=30704;ExAC.Info.AC_Hom=15147;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMG7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG7" target="_blank">SMG7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.925-21G>A;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=NCF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG7" target="_blank">SMG7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367535;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367535;SAVANT_GENE=NCF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCF2" target="_blank">NCF2</a>;SAVANT_INFO=-/34.9kb/15/2.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.925-21G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NCF2+c.925-21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183534935">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,423,4635:127	0|1:81,77:158:99:1991,0,2293:127	0|0:130,0:130:99:0,390,4317:127
1	183538436	.	G	A	1344.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Chronic_granulomatous_disease_due_to_deficiency_of_NCF-2|_233710_(3);dbSNP139.ID=rs34956009;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34956009" target="_blank">rs34956009</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMG7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG7" target="_blank">SMG7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.670-116C>T;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=NCF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG7" target="_blank">SMG7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367535;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367535;SAVANT_GENE=NCF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCF2" target="_blank">NCF2</a>;SAVANT_INFO=-/34.9kb/15/2.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.670-116C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NCF2+c.670-116C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183538436">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1797:127	0|1:43,26:69:99:691,0,1402:127	0|0:54,0:54:99:0,162,2003:127
1	183542387	.	T	C	8740.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=932;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Chronic_granulomatous_disease_due_to_deficiency_of_NCF-2|_233710_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2274064;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274064" target="_blank">rs2274064</a>;ExAC.Info.AC=62011;ExAC.Info.AN=126702;ExAC.Info.AF=0.489;ExAC.Info.AC_Het=30611;ExAC.Info.AC_Hom=15699;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SMG7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG7" target="_blank">SMG7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys181Arg/c.542A>G;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=NCF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMG7" target="_blank">SMG7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367535;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367535;SAVANT_GENE=NCF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCF2" target="_blank">NCF2</a>;SAVANT_INFO=-/34.9kb/15/2.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.542A>G_p.Lys181Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NCF2+c.542A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183542387">View</a>	GT:AD:DP:GQ:PL:TP	0|0:308,0:308:99:0,925,10307:127	0|1:179,155:334:99:4389,0,4963:127	0|0:290,0:290:99:0,871,9702:127
1	183592570	.	C	T	19718.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs17488675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17488675" target="_blank">rs17488675</a>;ExAC.Info.AC=5823;ExAC.Info.AN=22780;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=3565;ExAC.Info.AC_Hom=810;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ARPC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARPC5" target="_blank">ARPC5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARPC5" target="_blank">ARPC5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARPC5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183592570">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2392,216,0:127	1|1:0,90:90:99:3292,271,0:127	1|1:0,80:80:99:2868,240,0:127
1	183616926	.	T	C	32535.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=403;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1174657;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1174657" target="_blank">rs1174657</a>;ExAC.Info.AC=46628;ExAC.Info.AN=126704;ExAC.Info.AF=0.368;ExAC.Info.AC_Het=28988;ExAC.Info.AC_Hom=8815;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-33+11290T>C;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304685;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys331Glu/c.991A>G;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=APOBEC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308641;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308641:ENST00000304685;SAVANT_GENE=APOBEC4:RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOBEC4:RGL1" target="_blank">APOBEC4:RGL1</a>;SAVANT_INFO=-/6.9kb/2/2.6kb:+/292.5kb/19/5.1kb;SAVANT_LOC=Ex2:5UTR;SAVANT_HGVS=c.991A>G_p.Lys331Glu:c.-94367T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APOBEC4:RGL1+c.991A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183616926">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:3977,358,0:127	1|1:0,153:153:99:5057,460,0:127	1|1:0,131:131:99:4488,394,0:127
1	183617105	.	A	G	28882.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1174658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1174658" target="_blank">rs1174658</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=46618;ExAC.Info.AN=126704;ExAC.Info.AF=0.368;ExAC.Info.AC_Het=28988;ExAC.Info.AC_Hom=8812;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-33+11469A>G;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304685;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tCt;snpeff.Amino_Acid_Change=p.Phe271Ser/c.812T>C;snpeff.Amino_Acid_length=367;snpeff.Gene_Name=APOBEC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308641;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308641:ENST00000304685;SAVANT_GENE=APOBEC4:RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APOBEC4:RGL1" target="_blank">APOBEC4:RGL1</a>;SAVANT_INFO=-/6.9kb/2/2.6kb:+/292.5kb/19/5.1kb;SAVANT_LOC=Ex2:5UTR;SAVANT_HGVS=c.812T>C_p.Phe271Ser:c.-94188A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APOBEC4:RGL1+c.812T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183617105">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:3582,274,0:127	1|1:0,127:127:99:4764,382,0:127	1|1:1,99:100:99:3874,291,0:127
1	183775638	.	A	T	9873.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11579867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11579867" target="_blank">rs11579867</a>;ExAC.Info.AC=32197;ExAC.Info.AN=126700;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=22648;ExAC.Info.AC_Hom=4734;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.243+19A>T;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304685;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304685;SAVANT_GENE=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;SAVANT_INFO=+/292.5kb/19/5.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.243+19A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGL1+c.243+19A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183775638">View</a>	GT:AD:DP:GQ:PL:TP	0/1:72,59:131:99:1354,0,1850:127	0/1:75,56:131:99:1551,0,1914:127	0/1:72,51:123:99:1412,0,2012:127
1	183837032	.	A	G	18923.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4651156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4651156" target="_blank">rs4651156</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.530+1825A>G;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304685;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304685;SAVANT_GENE=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;SAVANT_INFO=+/292.5kb/19/5.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.530+1825A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGL1+c.530+1825A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183837032">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3779,313,0:127	1|1:0,110:110:99:3905,331,0:127	1|0:45,44:89:99:1418,0,1333:127
1	183852914	.	G	C	6040.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=187;MQ=69.95;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10797919;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797919" target="_blank">rs10797919</a>;ExAC.Info.AC=53904;ExAC.Info.AN=126688;ExAC.Info.AF=0.425;ExAC.Info.AC_Het=30449;ExAC.Info.AC_Hom=11701;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.716-6G>C;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304685;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.716G>C;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304685;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304685;SAVANT_GENE=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;SAVANT_INFO=+/292.5kb/19/5.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.716-6G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGL1+c.716-6G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183852914">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,30:57:99:926,0,877:127	0/1:36,35:71:99:1069,0,1148:127	0/1:27,32:59:99:947,0,876:127
1	183871637	.	G	A	4487.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4604659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4604659" target="_blank">rs4604659</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1423-65G>A;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304685;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304685;SAVANT_GENE=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;SAVANT_INFO=+/292.5kb/19/5.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1423-65G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGL1+c.1423-65G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183871637">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,17:45:99:474,0,852:127	0/1:30,32:62:99:916,0,881:127	0/1:24,17:41:99:532,0,763:127
1	183889607	.	T	C	12815.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=393;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7554987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7554987" target="_blank">rs7554987</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2110-1749T>C;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304685;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304685;SAVANT_GENE=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;SAVANT_INFO=+/292.5kb/19/5.1kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2110-1749T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGL1+c.2110-1749T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183889607">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,63:121:99:1857,0,1498:127	0/1:62,74:136:99:2259,0,1883:127	0/1:69,67:136:99:1900,0,1982:127
1	183895178	.	G	A	7987.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4328036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4328036" target="_blank">rs4328036</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2225-61G>A;snpeff.Amino_Acid_length=803;snpeff.Gene_Name=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304685;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304685;SAVANT_GENE=RGL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGL1" target="_blank">RGL1</a>;SAVANT_INFO=+/292.5kb/19/5.1kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2225-61G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGL1+c.2225-61G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:183895178">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,28:65:99:730,0,1053:127	0/1:42,41:83:99:1243,0,1277:127	0/1:35,43:78:99:1356,0,1013:127
1	184020945	.	G	A	9328.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2274432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274432" target="_blank">rs2274432</a>;ExAC.Info.AC=21230;ExAC.Info.AN=94686;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=4306;ExAC.Info.AC_Hom=1149;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gAc;snpeff.Amino_Acid_Change=p.Gly19Asp/c.56G>A;snpeff.Amino_Acid_length=171;snpeff.Gene_Name=TSEN15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSEN15" target="_blank">TSEN15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361641;SAVANT_GENE=TSEN15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSEN15" target="_blank">TSEN15</a>;SAVANT_INFO=+/22.5kb/5/2.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.56G>A_p.Gly19Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSEN15+c.56G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184020945">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1025,93,0:92	1|0:23,19:42:99:554,0,734:92	1|1:0,48:48:99:1631,144,0:92
1	184023529	.	A	C	39220.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=671;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1046934;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1046934" target="_blank">rs1046934</a>;ExAC.Info.AC=42619;ExAC.Info.AN=126704;ExAC.Info.AF=0.336;ExAC.Info.AC_Het=27435;ExAC.Info.AC_Hom=7589;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.177A>C;snpeff.Amino_Acid_length=171;snpeff.Gene_Name=TSEN15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSEN15" target="_blank">TSEN15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361641;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caA/caC;snpeff.Amino_Acid_Change=p.Gln59His/c.177A>C;snpeff.Amino_Acid_length=171;snpeff.Gene_Name=TSEN15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSEN15" target="_blank">TSEN15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361641;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361641;SAVANT_GENE=TSEN15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSEN15" target="_blank">TSEN15</a>;SAVANT_INFO=+/22.5kb/5/2.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.177A>C_p.Gln59His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSEN15+c.177A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184023529">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,222:222:99:7411,667,0:127	1|0:114,130:244:99:3833,0,3372:127	1|1:0,205:205:99:6808,615,0:127
1	184567463	.	G	T	2942.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10465489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10465489" target="_blank">rs10465489</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.267-72G>T;snpeff.Amino_Acid_length=121;snpeff.Gene_Name=C1orf21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf21" target="_blank">C1orf21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000235307;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000235307;SAVANT_GENE=C1orf21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf21" target="_blank">C1orf21</a>;SAVANT_INFO=+/242.0kb/6/10.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.267-72G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf21+c.267-72G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184567463">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,280,3487:127	0|0:119,0:119:99:0,358,4653:127	0|1:54,52:106:99:1490,0,1602:127
1	184662181	.	C	T	6510.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1061508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061508" target="_blank">rs1061508</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1016;snpeff.Amino_Acid_Change=c.*1016G>A;snpeff.Amino_Acid_length=932;snpeff.Gene_Name=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318130;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318130;SAVANT_GENE=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;SAVANT_INFO=-/64.4kb/20/6.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1016G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDEM3+c.*1016G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184662181">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,31:74:99:852,0,1325:127	0|0:109,0:109:99:0,328,3969:127	1|0:30,47:77:99:1437,0,862:127
1	184663537	.	A	C	6447.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9425343;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9425343" target="_blank">rs9425343</a>;ExAC.Info.AC=49000;ExAC.Info.AN=126562;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=27894;ExAC.Info.AC_Hom=10248;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aGt;snpeff.Amino_Acid_Change=p.Ile820Ser/c.2459T>G;snpeff.Amino_Acid_length=932;snpeff.Gene_Name=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318130;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318130;SAVANT_GENE=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;SAVANT_INFO=-/64.4kb/20/6.6kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2459T>G_p.Ile820Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDEM3+c.2459T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184663537">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,42:97:99:1149,0,1520:127	0|0:106,0:106:99:0,319,3580:127	1|0:41,46:87:99:1363,0,1177:127
1	184663581	.	T	C	3681.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs9425634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9425634" target="_blank">rs9425634</a>;ExAC.Info.AC=55869;ExAC.Info.AN=126400;ExAC.Info.AF=0.442;ExAC.Info.AC_Het=29260;ExAC.Info.AC_Hom=12523;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln805Gln/c.2415A>G;snpeff.Amino_Acid_length=932;snpeff.Gene_Name=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318130;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318130;SAVANT_GENE=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;SAVANT_INFO=-/64.4kb/20/6.6kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2415A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDEM3+c.2415A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184663581">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,23:53:99:768,0,918:127	0|0:68,0:68:99:0,204,2481:127	1|0:23,25:48:99:793,0,770:127
1	184675814	.	G	A	11292.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=503;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1062994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1062994" target="_blank">rs1062994</a>;ExAC.Info.AC=49091;ExAC.Info.AN=126686;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=28084;ExAC.Info.AC_Hom=10472;snpeff.Effect=sequence_feature[domain:PA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2166G>A;snpeff.Amino_Acid_length=932;snpeff.Gene_Name=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318130;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2166G>A;snpeff.Amino_Acid_length=932;snpeff.Gene_Name=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318130;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2166G>A;snpeff.Amino_Acid_length=932;snpeff.Gene_Name=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318130;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn722Asn/c.2166C>T;snpeff.Amino_Acid_length=932;snpeff.Gene_Name=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318130;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318130;SAVANT_GENE=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;SAVANT_INFO=-/64.4kb/20/6.6kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2166C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDEM3+c.2166C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184675814">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,73:147:99:1822,0,2285:127	0|0:196,1:197:99:0,565,6894:127	1|0:70,89:159:99:2570,0,1911:127
1	184677464	.	G	A	7108.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3736757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736757" target="_blank">rs3736757</a>;ExAC.Info.AC=67785;ExAC.Info.AN=126696;ExAC.Info.AF=0.535;ExAC.Info.AC_Het=29670;ExAC.Info.AC_Hom=19021;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile620Ile/c.1860C>T;snpeff.Amino_Acid_length=932;snpeff.Gene_Name=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318130;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318130;SAVANT_GENE=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;SAVANT_INFO=-/64.4kb/20/6.6kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1860C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDEM3+c.1860C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184677464">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,41:88:99:1108,0,1429:127	0|0:136,0:136:99:0,409,4647:127	1|0:58,59:117:99:1556,0,1564:127
1	184692999	.	TA	T	627.39	PASS	InheritancePattern=notInChild;AC=2;AF=0.667;AN=3;DP=38;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.748-10delT;snpeff.Amino_Acid_length=932;snpeff.Gene_Name=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318130;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000318130;SAVANT_GENE=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;SAVANT_INFO=-/64.4kb/20/6.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.748-10delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDEM3+c.748-10delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184692999">View</a>	GT:AD:DP:GQ:PL	./0:3,2:11:43:89,113,287	./1:4,10:19:34:138,34,141	./1:0,6:8:28:105,28,42
1	184692999	.	TA	TAA	627.39	PASS	InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=38;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.748-10_748-11insT;snpeff.Amino_Acid_length=932;snpeff.Gene_Name=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318130;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000318130;SAVANT_GENE=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;SAVANT_INFO=-/64.4kb/20/6.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.748-10dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDEM3+c.748-10dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184692999">View</a>	GT:AD:DP:GQ:PL	0/1:3,6:11:43:89,0,43	./1:4,5:19:34:138,91,194	./1:0,2:8:28:105,97,143
1	184706212	.	GT	G	5177.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=233;MQ=70.02;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10711907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10711907" target="_blank">rs10711907</a>;ExAC.Info.AC=67530;ExAC.Info.AN=126666;ExAC.Info.AF=0.533;ExAC.Info.AC_Het=29780;ExAC.Info.AC_Hom=18761;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.306-15delA;snpeff.Amino_Acid_length=932;snpeff.Gene_Name=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318130;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000318130;SAVANT_GENE=EDEM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDEM3" target="_blank">EDEM3</a>;SAVANT_INFO=-/64.4kb/20/6.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.306-15delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDEM3+c.306-15delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184706212">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,34:62:99:1087,0,860:127	0|0:95,0:95:99:0,286,3545:127	1|0:40,36:76:99:1118,0,1267:127
1	184764067	.	C	G	29226.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=644;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs581100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=581100" target="_blank">rs581100</a>;ExAC.Info.AC=48353;ExAC.Info.AN=126574;ExAC.Info.AF=0.382;ExAC.Info.AC_Het=28967;ExAC.Info.AC_Hom=9487;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=44;snpeff.Amino_Acid_Change=c.*44G>C;snpeff.Amino_Acid_length=928;snpeff.Gene_Name=FAM129A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM129A" target="_blank">FAM129A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367511;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367511;SAVANT_GENE=FAM129A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM129A" target="_blank">FAM129A</a>;SAVANT_INFO=-/183.5kb/14/6.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*44G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM129A+c.*44G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184764067">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,161:161:99:5200,483,0:127	1|0:146,113:259:99:3022,0,4247:127	1|0:121,103:224:99:2854,0,3472:127
1	184777177	.	C	A	9831.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=462;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs543912;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=543912" target="_blank">rs543912</a>;ExAC.Info.AC=27596;ExAC.Info.AN=126694;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=20730;ExAC.Info.AC_Hom=3432;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1335+31G>T;snpeff.Amino_Acid_length=928;snpeff.Gene_Name=FAM129A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM129A" target="_blank">FAM129A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367511;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367511;SAVANT_GENE=FAM129A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM129A" target="_blank">FAM129A</a>;SAVANT_INFO=-/183.5kb/14/6.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1335+31G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM129A+c.1335+31G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:184777177">View</a>	GT:AD:DP:GQ:PL:TP	0|1:91,66:157:99:1591,0,2823:127	1|0:101,73:174:99:2045,0,2806:127	0|0:131,0:131:99:0,392,4679:127
1	185069314	.	C	CT	3099.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs60678736;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60678736" target="_blank">rs60678736</a>;ExAC.Info.AC=11795;ExAC.Info.AN=126392;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=9923;ExAC.Info.AC_Hom=840;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.910-17_910-16insT;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=RNF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF2" target="_blank">RNF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367510;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.910_911insT;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=RNF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF2" target="_blank">RNF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367510;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.910_911insT;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=RNF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF2" target="_blank">RNF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367510;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367510;SAVANT_GENE=RNF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF2" target="_blank">RNF2</a>;SAVANT_INFO=+/57.2kb/7/3.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.910-15dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF2+c.910-15dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185069314">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,21:36:99:581,0,398:101	1|0:16,28:44:99:818,0,403:101	0|0:34,0:34:99:0,102,1146:101
1	185109327	.	T	A	2724.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72741812;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72741812" target="_blank">rs72741812</a>;ExAC.Info.AC=37;ExAC.Info.AN=126688;ExAC.Info.AF=2.921e-04;ExAC.Info.AC_Het=36;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:Trm1_methyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887T>A;snpeff.Amino_Acid_length=733;snpeff.Gene_Name=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367506;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Trm1_methyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887T>A;snpeff.Amino_Acid_length=733;snpeff.Gene_Name=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367506;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Trm1_methyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887T>A;snpeff.Amino_Acid_length=733;snpeff.Gene_Name=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367506;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Trm1_methyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887T>A;snpeff.Amino_Acid_length=733;snpeff.Gene_Name=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367506;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Trm1_methyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887T>A;snpeff.Amino_Acid_length=733;snpeff.Gene_Name=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367506;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Trm1_methyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887T>A;snpeff.Amino_Acid_length=733;snpeff.Gene_Name=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367506;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Trm1_methyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887T>A;snpeff.Amino_Acid_length=733;snpeff.Gene_Name=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367506;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Trm1_methyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887T>A;snpeff.Amino_Acid_length=733;snpeff.Gene_Name=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367506;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Trm1_methyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887T>A;snpeff.Amino_Acid_length=733;snpeff.Gene_Name=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367506;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Trm1_methyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887T>A;snpeff.Amino_Acid_length=733;snpeff.Gene_Name=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367506;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cTt;snpeff.Amino_Acid_Change=p.His296Leu/c.887A>T;snpeff.Amino_Acid_length=733;snpeff.Gene_Name=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367506;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367506;SAVANT_GENE=TRMT1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMT1L" target="_blank">TRMT1L</a>;SAVANT_INFO=-/38.9kb/15/4.4kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.887A>T_p.His296Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRMT1L+c.887A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185109327">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2310:127	0|1:33,42:75:99:1381,0,1075:127	0|0:71,0:71:99:0,213,2475:127
1	185137454	.	T	TAAATGATAGAC	5399.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs58809696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58809696" target="_blank">rs58809696</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.166-17_166-16insAAATGATAGAC;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367500;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367500;SAVANT_GENE=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;SAVANT_INFO=+/134.6kb/19/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.166-18_166-17insAAATGATAGAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SWT1+c.166-18_166-17insAAATGATAGAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185137454">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,29:56:99:1388,0,4653:127	1|0:42,26:68:99:1133,0,7075:127	0|0:56,0:56:99:0,169,10480:127
1	185137461	.	A	T	4377.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56166198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56166198" target="_blank">rs56166198</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.166-11A>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367500;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367500;SAVANT_GENE=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;SAVANT_INFO=+/134.6kb/19/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.166-11A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SWT1+c.166-11A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185137461">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,30:53:99:1218,0,4669:127	1|0:37,24:61:99:893,0,6939:127	0|0:51,0:51:99:0,160,10386:127
1	185137464	.	T	TAA	4331.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=23478;ExAC.Info.AN=112236;ExAC.Info.AF=0.209;ExAC.Info.AC_Het=9559;ExAC.Info.AC_Hom=3794;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.166-7_166-6insAA;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367500;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.166_167insAA;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367500;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367500;SAVANT_GENE=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;SAVANT_INFO=+/134.6kb/19/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.166-7_166-6insAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SWT1+c.166-7_166-6insAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185137464">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,30:54:99:1221,0,4440:127	1|0:37,24:61:99:893,0,6939:127	0|0:49,0:49:99:0,148,10041:127
1	185143721	.	A	G	9746.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=485;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10489579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10489579" target="_blank">rs10489579</a>;ExAC.Info.AC=47256;ExAC.Info.AN=126684;ExAC.Info.AF=0.373;ExAC.Info.AC_Het=28283;ExAC.Info.AC_Hom=9422;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile148Val/c.442A>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367500;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367500;SAVANT_GENE=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;SAVANT_INFO=+/134.6kb/19/3.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.442A>G_p.Ile148Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SWT1+c.442A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185143721">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,67:141:99:1924,0,2054:127	1|0:97,73:170:99:2017,0,2732:127	0|0:174,0:174:99:0,523,5856:127
1	185153545	.	G	GT	3016.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs76544683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76544683" target="_blank">rs76544683</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1240+70_1240+71insT;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367500;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367500;SAVANT_GENE=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;SAVANT_INFO=+/134.6kb/19/3.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1240+69_1240+70insT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SWT1+c.1240+69_1240+70insT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185153545">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,14:49:99:418,0,1259:127	1|0:27,21:48:99:704,0,947:127	0|0:52,0:52:99:0,157,2083:127
1	185171869	.	A	G	7121.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6698109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6698109" target="_blank">rs6698109</a>;ExAC.Info.AC=40307;ExAC.Info.AN=126702;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=26766;ExAC.Info.AC_Hom=6753;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His536Arg/c.1607A>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367500;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367500;SAVANT_GENE=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;SAVANT_INFO=+/134.6kb/19/3.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1607A>G_p.His536Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SWT1+c.1607A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185171869">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,45:98:99:1229,0,1386:127	1|0:64,61:125:99:1818,0,1897:127	0|0:95,0:95:99:0,285,3147:127
1	185240474	.	A	G	9012.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12041704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12041704" target="_blank">rs12041704</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=51548;ExAC.Info.AN=126554;ExAC.Info.AF=0.407;ExAC.Info.AC_Het=29738;ExAC.Info.AC_Hom=10813;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn821Asp/c.2461A>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367500;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367500;SAVANT_GENE=SWT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWT1" target="_blank">SWT1</a>;SAVANT_INFO=+/134.6kb/19/3.8kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2461A>G_p.Asn821Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SWT1+c.2461A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185240474">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,37:105:99:995,0,1819:127	1|0:59,86:145:99:2770,0,1584:127	0|0:109,0:109:99:0,327,3642:127
1	185833565	.	A	C	19713.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7556537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7556537" target="_blank">rs7556537</a>;ExAC.Info.AC=62837;ExAC.Info.AN=126670;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=29238;ExAC.Info.AC_Hom=16629;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.340-37A>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340A>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340A>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340A>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340A>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340A>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.340-37A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.340-37A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185833565">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:4109,332,0:127	1|0:72,66:138:99:2065,0,2151:127	1|1:0,86:86:99:3305,258,0:127
1	185834851	.	CT	CTT	2781.29	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=320;MQ=69.89;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.499-20_499-19insT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499_500insT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499_500insT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499_500insT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499_500insT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499_500insT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.499-9dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.499-9dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185834851">View</a>	GT:AD:DP:GQ:PL	0/1:51,37:98:99:522,0,1105	0/1:77,54:140:99:838,0,1608	./0:64,5:82:64:64,174,1699
1	185834851	.	CT	C	2781.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=320;MQ=69.89;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.499-21delT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499delT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499delT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499delT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499delT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499delT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.499-9delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.499-9delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185834851">View</a>	GT:AD:DP:GQ:PL	./0:51,10:98:99:522,606,2486	./0:77,9:140:99:838,1067,3601	0/1:64,13:82:64:64,0,1600
1	185891409	.	G	A	11429.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=622;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs55890842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55890842" target="_blank">rs55890842</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.901-102G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.901-102G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.901-102G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185891409">View</a>	GT:AD:DP:GQ:PL:TP	0|1:111,103:214:99:2670,0,3122:127	1|0:141,91:232:99:2422,0,4005:127	0|0:174,2:176:99:0,480,6039:127
1	185902978	.	T	C	1960.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12068599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12068599" target="_blank">rs12068599</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1828+22T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1828+22T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.1828+22T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185902978">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,294,3639:127	0|0:77,0:77:99:0,232,2921:127	0|1:41,37:78:99:999,0,1273:127
1	185958737	.	A	G	3726.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7539719;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7539719" target="_blank">rs7539719</a>;ExAC.Info.AC=7981;ExAC.Info.AN=126700;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=5188;ExAC.Info.AC_Hom=1395;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3166A>G;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3166A>G;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr1056Ala/c.3166A>G;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.3166A>G_p.Thr1056Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.3166A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185958737">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,366,4173:127	0|0:165,0:165:99:0,496,5640:127	0|1:68,58:126:99:1882,0,2071:127
1	185976244	.	G	A	6076.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=650;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1884662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1884662" target="_blank">rs1884662</a>;ExAC.Info.AC=6034;ExAC.Info.AN=126656;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=4609;ExAC.Info.AC_Hom=687;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4476-16G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4476G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4476G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4476G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4476G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.4476-16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.4476-16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185976244">View</a>	GT:AD:DP:GQ:PL:TP	0|0:195,1:196:99:0,574,7183:127	0|0:229,0:229:99:0,689,8856:127	0|1:120,105:225:99:3057,0,3569:127
1	185984517	.	T	C	5104.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=502;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6665753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665753" target="_blank">rs6665753</a>;ExAC.Info.AC=54096;ExAC.Info.AN=126686;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=29228;ExAC.Info.AC_Hom=12378;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4857T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His1619His/c.4857T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4857T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.4857T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185984517">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,1:142:99:0,421,4723:127	0|1:108,92:200:99:2571,0,3149:127	0|0:160,0:160:99:0,481,5571:127
1	185986239	.	C	T	6458.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=745;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41317473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41317473" target="_blank">rs41317473</a>;ExAC.Info.AC=1456;ExAC.Info.AN=126674;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1426;ExAC.Info.AC_Hom=14;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5300+36C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5301C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5301C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5301C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5301C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.5300+36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.5300+36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:185986239">View</a>	GT:AD:DP:GQ:PL:TP	0|0:220,0:220:99:0,661,8116:127	0|0:294,0:294:99:0,883,10472:127	0|1:115,116:231:99:3248,0,3537:127
1	186024643	.	G	A	8946.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1031;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12067376;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12067376" target="_blank">rs12067376</a>;ExAC.Info.AC=1502;ExAC.Info.AN=126690;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1461;ExAC.Info.AC_Hom=21;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6981G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_21];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6981G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atA;snpeff.Amino_Acid_Change=p.Met2327Ile/c.6981G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex45;SAVANT_HGVS=c.6981G>A_p.Met2327Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.6981G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186024643">View</a>	GT:AD:DP:GQ:PL:TP	0|0:325,0:325:99:0,977,12415:127	0|0:375,0:375:99:0,1128,14756:127	0|1:176,155:331:99:4470,0,5856:127
1	186026474	.	T	C	52113.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=1180;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12129650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12129650" target="_blank">rs12129650</a>;ExAC.Info.AC=68068;ExAC.Info.AN=126676;ExAC.Info.AF=0.537;ExAC.Info.AC_Het=30793;ExAC.Info.AC_Hom=18579;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7253T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7253T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_22];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7253T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_22];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7253T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile2418Thr/c.7253T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex46;SAVANT_HGVS=c.7253T>C_p.Ile2418Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.7253T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186026474">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,396:396:99:13784,1190,0:127	1|0:238,206:444:99:6032,0,6351:127	1|0:174,166:340:99:4964,0,4743:127
1	186031041	.	C	T	52588.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=969;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7522627;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7522627" target="_blank">rs7522627</a>;ExAC.Info.AC=75493;ExAC.Info.AN=126694;ExAC.Info.AF=0.596;ExAC.Info.AC_Het=29146;ExAC.Info.AC_Hom=23101;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7371C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7371C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_22];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7371C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_22];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7371C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys2457Cys/c.7371C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex47;SAVANT_HGVS=c.7371C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.7371C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186031041">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,278:278:99:8956,834,0:127	1|0:193,203:396:99:5344,0,5350:127	1|1:0,295:295:99:9657,884,0:127
1	186050417	.	A	G	44320.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=970;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10798035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10798035" target="_blank">rs10798035</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=68940;ExAC.Info.AN=126702;ExAC.Info.AF=0.544;ExAC.Info.AC_Het=30661;ExAC.Info.AC_Hom=19123;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000082286;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_27];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8678A>G;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_27];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8678A>G;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu2893Gly/c.8678A>G;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex56;SAVANT_HGVS=c.8678A>G_p.Glu2893Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.8678A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186050417">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000082286" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,301:301:99:10923,904,0:127	1|0:205,166:371:99:5001,0,6184:127	1|0:155,143:298:99:4325,0,4608:127
1	186055371	.	A	G	52694.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=867;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6425017;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6425017" target="_blank">rs6425017</a>;ExAC.Info.AC=73012;ExAC.Info.AN=126660;ExAC.Info.AF=0.576;ExAC.Info.AC_Het=29255;ExAC.Info.AC_Hom=21794;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8885-7A>G;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8885A>G;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In57/58;SAVANT_HGVS=c.8885-7A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.8885-7A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186055371">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,275:275:99:9802,826,0:127	1|0:173,146:319:99:4361,0,4722:127	1|1:1,272:273:99:9888,783,0:127
1	186057181	.	T	C	47930.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=746;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10911816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10911816" target="_blank">rs10911816</a>;ExAC.Info.AC=74191;ExAC.Info.AN=126550;ExAC.Info.AF=0.586;ExAC.Info.AC_Het=28625;ExAC.Info.AC_Hom=22477;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9445+36T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In61/62;SAVANT_HGVS=c.9445+36T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.9445+36T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186057181">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,245:245:99:9327,736,0:127	1|0:127,161:288:99:5091,0,3665:127	1|1:0,213:213:99:8346,641,0:127
1	186064616	.	T	C	5832.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=614;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72720910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72720910" target="_blank">rs72720910</a>;ExAC.Info.AC=1372;ExAC.Info.AN=126692;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1343;ExAC.Info.AC_Hom=13;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_33];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10536T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=68;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala3512Ala/c.10536T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=68;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex68;SAVANT_HGVS=c.10536T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.10536T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186064616">View</a>	GT:AD:DP:GQ:PL:TP	0|0:180,0:180:99:0,540,6208:127	0|0:243,1:244:99:0,723,8686:127	0|1:87,103:190:99:2935,0,2475:127
1	186081918	.	C	T	34183.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=605;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7555520;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7555520" target="_blank">rs7555520</a>;ExAC.Info.AC=73948;ExAC.Info.AN=126694;ExAC.Info.AF=0.584;ExAC.Info.AC_Het=28853;ExAC.Info.AC_Hom=22371;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10990-26C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=71;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10990C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=72;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10990C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=71;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_35];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10990C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=72;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_35];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10990C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=71;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In71/72;SAVANT_HGVS=c.10990-26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.10990-26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186081918">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,189:189:99:6103,568,0:127	1|0:126,98:224:99:2822,0,4074:127	1|1:0,192:192:99:6695,577,0:127
1	186086578	.	G	A	16380.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10157742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10157742" target="_blank">rs10157742</a>;ExAC.Info.AC=72658;ExAC.Info.AN=126698;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=29030;ExAC.Info.AC_Hom=21637;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11684-13G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=76;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In76/77;SAVANT_HGVS=c.11684-13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.11684-13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186086578">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:2788,266,0:127	1|0:52,50:102:99:1342,0,1454:127	1|1:0,83:83:99:2845,249,0:127
1	186089072	.	G	A	26140.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=524;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2891230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2891230" target="_blank">rs2891230</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12094+58G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=79;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12095G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=79;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12095G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_39];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12095G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=79;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_39];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12095G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In79/80;SAVANT_HGVS=c.12094+58G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.12094+58G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186089072">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,150:150:99:5283,451,0:127	1|0:104,120:224:99:3558,0,3192:127	1|0:72,78:150:99:2392,0,2258:127
1	186089112	.	T	C	18436.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=460;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2383434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2383434" target="_blank">rs2383434</a>;ExAC.Info.AC=51467;ExAC.Info.AN=126694;ExAC.Info.AF=0.406;ExAC.Info.AC_Het=29228;ExAC.Info.AC_Hom=10952;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12095-31T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=79;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12095T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=79;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12095T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_39];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12095T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=79;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_39];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12095T>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In79/80;SAVANT_HGVS=c.12095-31T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.12095-31T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186089112">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,128:128:99:3804,384,0:127	1|0:97,93:190:99:2175,0,2619:127	1|0:74,68:142:99:1642,0,1992:127
1	186092076	.	A	C	40785.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=656;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2057388;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2057388" target="_blank">rs2057388</a>;ExAC.Info.AC=59368;ExAC.Info.AN=126698;ExAC.Info.AF=0.469;ExAC.Info.AC_Het=28798;ExAC.Info.AC_Hom=15251;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12230-7A>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12230A>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In80/81;SAVANT_HGVS=c.12230-7A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.12230-7A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186092076">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,181:181:99:6499,543,0:127	1|0:140,127:267:99:3584,0,3871:127	1|1:0,208:208:99:7775,625,0:127
1	186092103	.	C	T	8494.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=854;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41317489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41317489" target="_blank">rs41317489</a>;ExAC.Info.AC=1227;ExAC.Info.AN=126704;ExAC.Info.AF=9.684e-03;ExAC.Info.AC_Het=1205;ExAC.Info.AC_Hom=10;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_40];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12250C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=81;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cat/Tat;snpeff.Amino_Acid_Change=p.His4084Tyr/c.12250C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=81;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex81;SAVANT_HGVS=c.12250C>T_p.His4084Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.12250C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186092103">View</a>	GT:AD:DP:GQ:PL:TP	0|0:241,0:241:99:0,724,8346:127	0|0:343,0:343:99:0,1033,12002:127	0|1:122,148:270:99:4266,0,3723:127
1	186099180	.	C	T	4700.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=563;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41317491;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41317491" target="_blank">rs41317491</a>;ExAC.Info.AC=1388;ExAC.Info.AN=126698;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1359;ExAC.Info.AC_Hom=15;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_42];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12987C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=83;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_42];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12987C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=84;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr4329Thr/c.12987C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=84;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex84;SAVANT_HGVS=c.12987C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.12987C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186099180">View</a>	GT:AD:DP:GQ:PL:TP	0|0:173,0:173:99:0,519,5869:127	0|0:220,0:220:99:0,661,7277:127	0|1:87,83:170:99:2369,0,2506:127
1	186101539	.	A	G	12410.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10911825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10911825" target="_blank">rs10911825</a>;ExAC.Info.AC=46699;ExAC.Info.AN=126436;ExAC.Info.AF=0.369;ExAC.Info.AC_Het=26194;ExAC.Info.AC_Hom=9351;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13310A>G;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=86;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln4437Arg/c.13310A>G;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=86;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex86;SAVANT_HGVS=c.13310A>G_p.Gln4437Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.13310A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186101539">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,54:112:99:1631,0,1645:127	0|0:155,0:155:99:0,466,5273:127	1|1:0,111:111:99:3940,334,0:127
1	186113727	.	G	A	7378.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=780;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6693069;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6693069" target="_blank">rs6693069</a>;ExAC.Info.AC=3921;ExAC.Info.AN=126704;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3481;ExAC.Info.AC_Hom=220;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000086986;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.14158G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=91;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_type-1_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.14158G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=91;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala4720Thr/c.14158G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=91;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex91;SAVANT_HGVS=c.14158G>A_p.Ala4720Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14158G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186113727">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000086986" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	0|0:229,0:229:99:0,688,8441:127	0|0:304,0:304:99:0,913,10824:127	0|1:116,131:247:99:3708,0,3573:127
1	186113852	.	G	C	9958.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17531405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17531405" target="_blank">rs17531405</a>;ExAC.Info.AC=17092;ExAC.Info.AN=126698;ExAC.Info.AF=0.135;ExAC.Info.AC_Het=14207;ExAC.Info.AC_Hom=1436;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14266+17G>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=91;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In91/92;SAVANT_HGVS=c.14266+17G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14266+17G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186113852">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,64:120:99:1993,0,1712:127	0|0:136,0:136:99:0,408,4796:127	1|0:76,73:149:99:2144,0,2295:127
1	186114828	.	AT	A	2531.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=313;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14438-56delT;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=92;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In92/93;SAVANT_HGVS=c.14438-55delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14438-55delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186114828">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,361,5935:127	0|0:105,0:105:99:0,325,5403:127	0|1:59,34:93:99:1289,0,2704:127
1	186114832	.	T	A	2618.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=321;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14438-53T>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=92;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In92/93;SAVANT_HGVS=c.14438-53T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14438-53T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186114832">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,370,6169:127	0|0:109,0:109:99:0,340,5752:127	0|1:59,36:95:99:1328,0,2780:127
1	186114835	.	AG	A	2759.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=323;MQ=69.92;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=1207;ExAC.Info.AN=126702;ExAC.Info.AF=9.526e-03;ExAC.Info.AC_Het=1191;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14438-49delG;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=92;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In92/93;SAVANT_HGVS=c.14438-49delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14438-49delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186114835">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,373,6445:127	0|0:112,0:112:99:0,346,6000:127	0|1:58,36:94:99:1403,0,3047:127
1	186114839	.	T	TGGC	2945.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=327;MQ=69.92;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=1207;ExAC.Info.AN=126702;ExAC.Info.AF=9.526e-03;ExAC.Info.AC_Het=1192;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14438-45_14438-44insGGC;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=92;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In92/93;SAVANT_HGVS=c.14438-46_14438-45insGGC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14438-46_14438-45insGGC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186114839">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,379,6743:127	0|0:112,0:112:99:0,355,6261:127	0|1:60,37:97:99:1496,0,2964:127
1	186114842	.	G	C	2948.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=334;MQ=69.93;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=1207;ExAC.Info.AN=126702;ExAC.Info.AF=9.526e-03;ExAC.Info.AC_Het=1192;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14438-43G>C;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=92;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In92/93;SAVANT_HGVS=c.14438-43G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14438-43G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186114842">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,379,6868:127	0|0:115,0:115:99:0,358,6471:127	0|1:61,36:97:99:1493,0,3069:127
1	186114844	.	AGCC	A	2837.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=348;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=1207;ExAC.Info.AN=126702;ExAC.Info.AF=9.526e-03;ExAC.Info.AC_Het=1193;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14438-40_14438-38delGCC;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=92;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In92/93;SAVANT_HGVS=c.14438-40_14438-38delGCC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14438-40_14438-38delGCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186114844">View</a>	GT:AD:DP:GQ:PL:TP	0|0:129,0:129:99:0,400,7346:127	0|0:119,0:119:99:0,364,6599:127	0|1:63,37:100:99:1442,0,3198:127
1	186114850	.	T	TC	2843.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=343;MQ=69.91;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=1207;ExAC.Info.AN=126702;ExAC.Info.AF=9.526e-03;ExAC.Info.AC_Het=1193;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14438-34_14438-33insC;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=92;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In92/93;SAVANT_HGVS=c.14438-35_14438-34insC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14438-35_14438-34insC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186114850">View</a>	GT:AD:DP:GQ:PL:TP	0|0:127,0:127:99:0,391,7211:127	0|0:116,0:116:99:0,370,6689:127	0|1:63,37:100:99:1445,0,3156:127
1	186114853	.	C	CA	2825.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=341;MQ=69.91;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=1207;ExAC.Info.AN=126702;ExAC.Info.AF=9.526e-03;ExAC.Info.AC_Het=1193;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14438-31_14438-30insA;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=92;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In92/93;SAVANT_HGVS=c.14438-32_14438-31insA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14438-32_14438-31insA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186114853">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,391,7170:127	0|0:117,0:117:99:0,376,6769:127	0|1:60,38:98:99:1436,0,3146:127
1	186114855	.	T	A	2854.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=342;MQ=69.91;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs114672163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114672163" target="_blank">rs114672163</a>;ExAC.Info.AC=1207;ExAC.Info.AN=126702;ExAC.Info.AF=9.526e-03;ExAC.Info.AC_Het=1193;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14438-30T>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=92;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In92/93;SAVANT_HGVS=c.14438-30T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14438-30T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186114855">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,385,7080:127	0|0:119,0:119:99:0,361,6544:127	0|1:59,39:98:99:1446,0,3020:127
1	186115161	.	G	GA	1241.3	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11462984;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11462984" target="_blank">rs11462984</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14608+107_14608+108insA;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=93;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In93/94;SAVANT_HGVS=c.14608+120dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.14608+120dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186115161">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,21:43:99:347,0,407:54	0|0:70,7:77:54:0,54,1436:54	1|0:42,18:60:99:211,0,791:54
1	186134246	.	A	T	5272.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=814;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41317507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41317507" target="_blank">rs41317507</a>;ExAC.Info.AC=4867;ExAC.Info.AN=126700;ExAC.Info.AF=0.038;ExAC.Info.AC_Het=4156;ExAC.Info.AC_Hom=354;snpeff.Effect=sequence_feature[domain:Nidogen_G2_beta-barrel];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15260A>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=98;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Nidogen_G2_beta-barrel];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15260A>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=97;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Nidogen_G2_beta-barrel];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15260A>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=94;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Nidogen_G2_beta-barrel];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15260A>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=96;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Nidogen_G2_beta-barrel];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15260A>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=95;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gTt;snpeff.Amino_Acid_Change=p.Asp5087Val/c.15260A>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=98;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=Ex98;SAVANT_HGVS=c.15260A>T_p.Asp5087Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.15260A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186134246">View</a>	GT:AD:DP:GQ:PL:TP	0|0:287,1:288:99:0,829,8814:127	0|0:284,0:284:99:0,853,9406:127	0|1:142,100:242:99:2655,0,3853:127
1	186141301	.	G	A	39378.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=647;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4651302;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4651302" target="_blank">rs4651302</a>;ExAC.Info.AC=68366;ExAC.Info.AN=126704;ExAC.Info.AF=0.540;ExAC.Info.AC_Het=28986;ExAC.Info.AC_Hom=19661;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.15814+38G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=102;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15815G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=102;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15815G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=103;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In102/103;SAVANT_HGVS=c.15814+38G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.15814+38G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186141301">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,180:180:99:5741,540,0:127	1|0:129,126:255:99:3529,0,3861:127	1|1:1,211:212:99:8368,594,0:127
1	186141303	.	C	T	6262.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=629;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72707476;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72707476" target="_blank">rs72707476</a>;ExAC.Info.AC=2964;ExAC.Info.AN=126704;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2669;ExAC.Info.AC_Hom=147;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.15814+40C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=102;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15815C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=102;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15815C>T;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=103;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In102/103;SAVANT_HGVS=c.15814+40C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.15814+40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186141303">View</a>	GT:AD:DP:GQ:PL:TP	0|0:181,0:181:99:0,544,5906:127	0|0:243,0:243:99:0,746,9978:127	0|1:101,104:205:99:3150,0,2991:127
1	186143815	.	G	A	9772.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72707483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72707483" target="_blank">rs72707483</a>;ExAC.Info.AC=1426;ExAC.Info.AN=126686;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1402;ExAC.Info.AC_Hom=9;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.15943+41G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=103;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15944G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=104;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.15944G>A;snpeff.Amino_Acid_length=5635;snpeff.Gene_Name=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271588;snpeff.Exon_Rank=103;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271588;SAVANT_GENE=HMCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMCN1" target="_blank">HMCN1</a>;SAVANT_INFO=+/456.4kb/107/18.2kb;SAVANT_LOC=In103/104;SAVANT_HGVS=c.15943+41G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HMCN1+c.15943+41G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186143815">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,51:123:99:1393,0,2101:127	1|0:85,83:168:99:2424,0,2911:127	0|0:142,0:142:99:0,427,5549:127
1	186265948	.	T	A	6616.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1293987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1293987" target="_blank">rs1293987</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-30-30T>A;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445192;SAVANT_GENE=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;SAVANT_INFO=+/18.3kb/13/5.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-60T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG4+c.-60T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186265948">View</a>	GT:AD:DP:GQ:PL:TP	1|0:64,46:110:99:1287,0,2016:127	0|0:128,0:128:99:0,385,4619:127	1|0:55,47:102:99:1450,0,1786:127
1	186269247	.	G	T	2951.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=707;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72711783;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72711783" target="_blank">rs72711783</a>;snpeff.Effect=sequence_feature[disulfide_bond:Alternate];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.101G>T;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.101G>T;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SMB_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.101G>T;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SMB_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.101G>T;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SMB_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.101G>T;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tTt;snpeff.Amino_Acid_Change=p.Cys34Phe/c.101G>T;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445192;SAVANT_GENE=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;SAVANT_INFO=+/18.3kb/13/5.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.101G>T_p.Cys34Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG4+c.101G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186269247">View</a>	GT:AD:DP:GQ:PL:TP	0|0:227,0:227:99:0,682,8090:127	0|0:252,0:252:99:0,757,9032:127	0|1:163,65:228:99:1495,0,5109:127
1	186270894	.	A	G	4808.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1547084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1547084" target="_blank">rs1547084</a>;ExAC.Info.AC=38547;ExAC.Info.AN=126704;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=25763;ExAC.Info.AC_Hom=6368;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.319+51A>G;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SMB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320A>G;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SMB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320A>G;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SMB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320A>G;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445192;SAVANT_GENE=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;SAVANT_INFO=+/18.3kb/13/5.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.319+51A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG4+c.319+51A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186270894">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2364:127	0|1:51,37:88:99:1162,0,1446:127	0|1:48,45:93:99:1262,0,1290:127
1	186273994	.	C	T	4678.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2273779;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273779" target="_blank">rs2273779</a>;ExAC.Info.AC=38398;ExAC.Info.AN=126656;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=25614;ExAC.Info.AC_Hom=6305;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.538C>T;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg180Trp/c.538C>T;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445192;SAVANT_GENE=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;SAVANT_INFO=+/18.3kb/13/5.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.538C>T_p.Arg180Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG4+c.538C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186273994">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,2958:127	0|1:57,56:113:99:1609,0,1509:127	0|1:60,29:89:99:750,0,1722:127
1	186276588	.	T	C	156.41	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=278;MQ=68.55;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;cosmic68.Histology_subtype=endometrioid_carcinoma;ExAC.Info.AC=3;ExAC.Info.AN=126616;ExAC.Info.AF=2.369e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[repeat:30];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1737T>C;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:59_X_8_AA_repeats_of_K-X-P-X-P-T-T-X];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1737T>C;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr579Thr/c.1737T>C;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445192;SAVANT_GENE=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;SAVANT_INFO=+/18.3kb/13/5.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1737T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG4+c.1737T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186276588">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,14:114:99:0,117,2386:14	0|1:79,18:97:84:84,0,1972:14	0|1:57,10:67:14:14,0,1503:14
1	186276661	.	A	G	3076.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=260;MQ=68.94;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61831150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61831150" target="_blank">rs61831150</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=38230;ExAC.Info.AN=126522;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=25412;ExAC.Info.AC_Hom=6330;snpeff.Effect=sequence_feature[repeat:33];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:59_X_8_AA_repeats_of_K-X-P-X-P-T-T-X];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr604Ala/c.1810A>G;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445192;SAVANT_GENE=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;SAVANT_INFO=+/18.3kb/13/5.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1810A>G_p.Thr604Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG4+c.1810A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186276661">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,275,2933:127	0|1:56,35:91:99:805,0,1596:127	0|1:45,32:77:99:753,0,1169:127
1	186277088	.	G	C	38567.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=459;MQ=66.94;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs68069719;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=68069719" target="_blank">rs68069719</a>;ExAC.Info.AC=126556;ExAC.Info.AN=126578;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=19;ExAC.Info.AC_Hom=63207;snpeff.Effect=sequence_feature[repeat:46];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2237G>C;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:59_X_8_AA_repeats_of_K-X-P-X-P-T-T-X];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2237G>C;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tCt;snpeff.Amino_Acid_Change=p.Cys746Ser/c.2237G>C;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445192;SAVANT_GENE=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;SAVANT_INFO=+/18.3kb/13/5.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.2237G>C_p.Cys746Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG4+c.2237G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186277088">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,155:155:99:5466,465,0:127	1|1:0,160:160:99:5735,481,0:127	1|1:1,143:144:99:5273,388,0:127
1	186277989	.	A	G	15179.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=867;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3737940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737940" target="_blank">rs3737940</a>;ExAC.Info.AC=38038;ExAC.Info.AN=126686;ExAC.Info.AF=0.300;ExAC.Info.AC_Het=25393;ExAC.Info.AC_Hom=6278;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro1046Pro/c.3138A>G;snpeff.Amino_Acid_length=1404;snpeff.Gene_Name=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445192;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445192;SAVANT_GENE=PRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG4" target="_blank">PRG4</a>;SAVANT_INFO=+/18.3kb/13/5.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.3138A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG4+c.3138A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186277989">View</a>	GT:AD:DP:GQ:PL:TP	0|0:301,0:301:99:0,904,10142:127	0|1:169,126:295:99:3755,0,5057:127	0|1:143,128:271:99:3957,0,4334:127
1	186321242	.	C	T	1914.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61744267;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61744267" target="_blank">rs61744267</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=16565;ExAC.Info.AN=124980;ExAC.Info.AF=0.133;ExAC.Info.AC_Het=13872;ExAC.Info.AC_Hom=1317;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335C>T;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335C>T;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335C>T;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335C>T;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335C>T;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335C>T;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335C>T;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335C>T;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335C>T;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335C>T;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335C>T;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2335G>A;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val779Ile/c.2335G>A;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367478;SAVANT_GENE=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;SAVANT_INFO=-/61.5kb/51/7.5kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2335G>A_p.Val779Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPR+c.2335G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186321242">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2406:104	0|1:36,33:69:99:976,0,1129:104	0|0:35,0:35:99:0,105,1240:104
1	186329869	.	C	G	3896.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2026187;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2026187" target="_blank">rs2026187</a>;ExAC.Info.AC=72856;ExAC.Info.AN=125086;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=30045;ExAC.Info.AC_Hom=21161;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1099+28G>C;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1100C>G;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1100C>G;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1100C>G;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1100C>G;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1100C>G;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1100C>G;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1100C>G;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1100C>G;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1100C>G;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1100C>G;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1100C>G;snpeff.Amino_Acid_length=2363;snpeff.Gene_Name=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367478;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367478;SAVANT_GENE=TPR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPR" target="_blank">TPR</a>;SAVANT_INFO=-/61.5kb/51/7.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1099+28G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPR+c.1099+28G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186329869">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,183,2123:127	0|1:43,50:93:99:1382,0,1268:127	0|1:40,20:60:99:586,0,1289:127
1	186363119	.	C	G	4760.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12084264;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12084264" target="_blank">rs12084264</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=14830;ExAC.Info.AN=74958;ExAC.Info.AF=0.198;ExAC.Info.AC_Het=5236;ExAC.Info.AC_Hom=1083;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCt/tGt;snpeff.Amino_Acid_Change=p.Ser251Cys/c.752C>G;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=C1orf27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf27" target="_blank">C1orf27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287859;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287859;SAVANT_GENE=C1orf27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf27" target="_blank">C1orf27</a>;SAVANT_INFO=+/45.5kb/14/3.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.752C>G_p.Ser251Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf27+c.752C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186363119">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1719:127	0|1:30,39:69:99:1214,0,852:127	0|1:31,37:68:99:1186,0,1017:127
1	186418600	.	C	T	1908.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12407957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12407957" target="_blank">rs12407957</a>;ExAC.Info.AC=18486;ExAC.Info.AN=126702;ExAC.Info.AF=0.146;ExAC.Info.AC_Het=14731;ExAC.Info.AC_Hom=1856;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDC" target="_blank">PDC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391997;SAVANT_GENE=PDC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDC" target="_blank">PDC</a>;SAVANT_INFO=-/17.6kb/4/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-9G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDC+c.-9G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186418600">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,291,3490:127	0|0:144,0:144:99:0,432,4783:127	0|1:54,38:92:99:973,0,1622:127
1	186645927	.	C	T	6514.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=952;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2066826;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066826" target="_blank">rs2066826</a>;ExAC.Info.AC=18003;ExAC.Info.AN=126674;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=14757;ExAC.Info.AC_Hom=1573;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.723+38G>A;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=PTGS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGS2" target="_blank">PTGS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367468;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367468;SAVANT_GENE=PTGS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGS2" target="_blank">PTGS2</a>;SAVANT_INFO=-/8.6kb/10/4.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.723+38G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGS2+c.723+38G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186645927">View</a>	GT:AD:DP:GQ:PL:TP	0|0:327,0:327:99:0,982,10903:127	0|0:372,1:373:99:0,1080,12331:127	0|1:128,124:252:99:3276,0,3534:127
1	186648197	.	C	G	4604.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs5277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5277" target="_blank">rs5277</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15273;ExAC.Info.AN=126698;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=12946;ExAC.Info.AC_Hom=1139;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306C>G;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=PTGS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGS2" target="_blank">PTGS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367468;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306C>G;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=PTGS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGS2" target="_blank">PTGS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367468;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306C>G;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=PTGS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGS2" target="_blank">PTGS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367468;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtC;snpeff.Amino_Acid_Change=p.Val102Val/c.306G>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=PTGS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGS2" target="_blank">PTGS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367468;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367468;SAVANT_GENE=PTGS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGS2" target="_blank">PTGS2</a>;SAVANT_INFO=-/8.6kb/10/4.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.306G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTGS2+c.306G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186648197">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,352,4177:127	0|1:59,69:128:99:2321,0,1747:127	0|0:121,0:121:99:0,363,4429:127
1	186650321	.	C	G	3656.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs20417;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=20417" target="_blank">rs20417</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Reduced_promoter_activity|_association_with;hgmd_2014.2.OMIM_ID=600262;hgmd_2014.2.PubMed=12377741;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12377741" target="_blank">12377741</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.568C>G;snpeff.Gene_Name=RP5-973M2.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-973M22" target="_blank">RP5-973M22</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608917;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-973M22" target="_blank">RP5-973M22</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-973M22+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186650321">View</a>	GT:AD:DP:GQ:PL:TP	0|0:131,0:131:99:0,394,4285:127	0|0:156,0:156:99:0,469,5244:127	0|1:70,65:135:99:1847,0,1910:127
1	186839861	.	G	A	3656.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=459;MQ=69.95;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Phospholipase_A2|_group_IV_A|_deficiency_of_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7547993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7547993" target="_blank">rs7547993</a>;ExAC.Info.AC=18261;ExAC.Info.AN=121578;ExAC.Info.AF=0.150;ExAC.Info.AC_Het=8306;ExAC.Info.AC_Hom=1008;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.115+213G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367466;SAVANT_GENE=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;SAVANT_INFO=+/160.0kb/18/2.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.115+213G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G4A+c.115+213G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186839861">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,423,5277:127	0|0:165,0:165:99:0,495,5724:127	0|1:79,74:153:99:1847,0,3041:127
1	186839879	.	AAG	A	11824.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=404;MQ=69.95;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Phospholipase_A2|_group_IV_A|_deficiency_of_(3);dbSNP139.ID=rs12720508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12720508" target="_blank">rs12720508</a>;ExAC.Info.AC=23675;ExAC.Info.AN=119486;ExAC.Info.AF=0.198;ExAC.Info.AC_Het=9418;ExAC.Info.AC_Hom=1602;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.115+232_115+233delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phospholipid_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116_117delAG;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367466;SAVANT_GENE=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;SAVANT_INFO=+/160.0kb/18/2.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.115+234_115+235delAG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G4A+c.115+234_115+235delAG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186839879">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,49:112:99:1841,0,2466:127	0|0:143,0:143:99:0,430,6437:127	1|0:74,75:149:99:2851,0,2808:127
1	186908385	.	C	T	5286.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=517;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Phospholipase_A2|_group_IV_A|_deficiency_of_(3);dbSNP139.ID=rs2307200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2307200" target="_blank">rs2307200</a>;ExAC.Info.AC=29571;ExAC.Info.AN=126490;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=20216;ExAC.Info.AC_Hom=4335;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.918+23C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367466;SAVANT_GENE=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;SAVANT_INFO=+/160.0kb/18/2.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.918+23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G4A+c.918+23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186908385">View</a>	GT:AD:DP:GQ:PL:TP	0|0:155,0:155:99:0,466,5945:127	0|0:192,0:192:99:0,577,7389:127	0|1:83,87:170:99:2662,0,2656:127
1	186919863	.	G	A	9966.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1232;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Phospholipase_A2|_group_IV_A|_deficiency_of_(3);dbSNP139.ID=rs6661772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6661772" target="_blank">rs6661772</a>;ExAC.Info.AC=5584;ExAC.Info.AN=126674;ExAC.Info.AF=0.044;ExAC.Info.AC_Het=5212;ExAC.Info.AC_Hom=169;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1336+3G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367466;SAVANT_GENE=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;SAVANT_INFO=+/160.0kb/18/2.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1336+3G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G4A+c.1336+3G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186919863">View</a>	GT:AD:DP:GQ:PL:TP	0|0:404,0:404:99:0,1214,14236:127	0|0:426,0:426:99:0,1280,15242:127	0|1:216,186:402:99:5002,0,6328:127
1	186925168	.	A	G	12407.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Phospholipase_A2|_group_IV_A|_deficiency_of_(3);dbSNP139.ID=rs5007825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5007825" target="_blank">rs5007825</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1337-66A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367466;SAVANT_GENE=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;SAVANT_INFO=+/160.0kb/18/2.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1337-66A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G4A+c.1337-66A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186925168">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1801,156,0:127	1|1:0,77:77:99:2688,231,0:127	1|1:0,43:43:99:1511,129,0:127
1	186925194	.	T	C	24312.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Phospholipase_A2|_group_IV_A|_deficiency_of_(3);dbSNP139.ID=rs5007824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5007824" target="_blank">rs5007824</a>;ExAC.Info.AC=120997;ExAC.Info.AN=126672;ExAC.Info.AF=0.955;ExAC.Info.AC_Het=5279;ExAC.Info.AC_Hom=57096;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1337-40T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1337T>C;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367466;SAVANT_GENE=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;SAVANT_INFO=+/160.0kb/18/2.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1337-40T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G4A+c.1337-40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186925194">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:3246,259,0:127	1|1:0,130:130:99:4854,391,0:127	1|1:0,94:94:99:3720,283,0:127
1	186946869	.	A	G	21491.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1276;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Phospholipase_A2|_group_IV_A|_deficiency_of_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28395831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28395831" target="_blank">rs28395831</a>;ExAC.Info.AC=1061;ExAC.Info.AN=126704;ExAC.Info.AF=8.374e-03;ExAC.Info.AC_Het=1039;ExAC.Info.AC_Hom=11;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile637Val/c.1909A>G;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367466;SAVANT_GENE=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;SAVANT_INFO=+/160.0kb/18/2.9kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1909A>G_p.Ile637Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G4A+c.1909A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186946869">View</a>	GT:AD:DP:GQ:PL:TP	1|0:207,179:386:99:4904,0,5442:127	0|0:493,0:493:99:0,1480,16358:127	1|0:203,194:397:99:5361,0,5472:127
1	186946912	.	G	A	67260.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=918;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Phospholipase_A2|_group_IV_A|_deficiency_of_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2307198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2307198" target="_blank">rs2307198</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Increased_enzyme_activity;hgmd_2014.2.OMIM_ID=600522;hgmd_2014.2.PubMed=21247147;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21247147" target="_blank">21247147</a>;ExAC.Info.AC=124213;ExAC.Info.AN=126704;ExAC.Info.AF=0.980;ExAC.Info.AC_Het=2415;ExAC.Info.AC_Hom=60894;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLA2c];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg651Lys/c.1952G>A;snpeff.Amino_Acid_length=749;snpeff.Gene_Name=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367466;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367466;SAVANT_GENE=PLA2G4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLA2G4A" target="_blank">PLA2G4A</a>;SAVANT_INFO=+/160.0kb/18/2.9kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1952G>A_p.Arg651Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLA2G4A+c.1952G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:186946912">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,279:279:99:9835,839,0:127	1|1:0,345:345:99:12218,1037,0:127	1|1:1,293:294:99:10284,859,0:127
1	187610698	.	C	A	3116.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10157987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10157987" target="_blank">rs10157987</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.151-52C>A;snpeff.Gene_Name=ERVMER61-1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERVMER61-1" target="_blank">ERVMER61-1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429725;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERVMER61-1" target="_blank">ERVMER61-1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERVMER61-1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:187610698">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2839:127	0|1:43,55:98:99:1577,0,1212:127	0|0:68,0:68:99:0,204,2425:127
1	187610852	.	A	C	26417.76	PASS	InheritancePattern=unknown;AC=1;AF=0.500;AN=2;DP=397;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=./0;NA12891_GT=./1;dbSNP139.ID=rs10159182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10159182" target="_blank">rs10159182</a>;ExAC.Info.AC=11778;ExAC.Info.AN=23646;ExAC.Info.AF=0.498;ExAC.Info.AC_Het=6504;ExAC.Info.AC_Hom=2911;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.253A>C;snpeff.Gene_Name=ERVMER61-1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERVMER61-1" target="_blank">ERVMER61-1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429725;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERVMER61-1" target="_blank">ERVMER61-1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERVMER61-1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:187610852">View</a>	GT:AD:DP:GQ:PL	./.:0,0:126:99:4220,4199,4188	./1:0,67:152:99:4915,2704,2500	./0:56,0:119:99:1902,2070,3815
1	187610852	.	A	T	26417.76	PASS	InheritancePattern=AR;AC=4;AF=0.800;AN=5;DP=397;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1/1;NA12892_GT=0/1;NA12891_GT=./1;dbSNP139.ID=rs10159182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10159182" target="_blank">rs10159182</a>;ExAC.Info.AC=6565;ExAC.Info.AN=23646;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=6504;ExAC.Info.AC_Hom=2911;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.253A>T;snpeff.Gene_Name=ERVMER61-1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERVMER61-1" target="_blank">ERVMER61-1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429725;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERVMER61-1" target="_blank">ERVMER61-1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERVMER61-1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:187610852">View</a>	GT:AD:DP:GQ:PL	1/1:0,126:126:99:4220,378,0	./1:0,85:152:99:4915,2203,1946	0/1:56,63:119:99:1902,0,1553
1	192989594	.	G	A	2956.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72738589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72738589" target="_blank">rs72738589</a>;ExAC.Info.AC=515;ExAC.Info.AN=21682;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=456;ExAC.Info.AC_Hom=8;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1062+633C>T;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=UCHL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCHL5" target="_blank">UCHL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367450;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000367455;SAVANT_GENE=UCHL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCHL5" target="_blank">UCHL5</a>;SAVANT_INFO=-/43.7kb/11/1.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.945+633C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UCHL5+c.945+633C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:192989594">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,30:61:99:891,0,869:127	1|0:29,19:48:99:524,0,903:127	0|0:68,0:68:99:0,204,2261:127
1	192992200	.	T	C	1730.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72738591;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72738591" target="_blank">rs72738591</a>;ExAC.Info.AC=10;ExAC.Info.AN=126676;ExAC.Info.AF=7.894e-05;ExAC.Info.AC_Het=10;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.850-31A>G;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=UCHL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCHL5" target="_blank">UCHL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367450;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000367455;SAVANT_GENE=UCHL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCHL5" target="_blank">UCHL5</a>;SAVANT_INFO=-/43.7kb/11/1.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.733-31A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UCHL5+c.733-31A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:192992200">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1835:127	0|0:73,0:73:99:0,219,2347:127	0|1:22,28:50:99:884,0,607:127
1	193021022	.	T	A	2819.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12123970;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12123970" target="_blank">rs12123970</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.113-75A>T;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=UCHL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCHL5" target="_blank">UCHL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367450;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000367455;SAVANT_GENE=UCHL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCHL5" target="_blank">UCHL5</a>;SAVANT_INFO=-/43.7kb/11/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.77-75A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UCHL5+c.77-75A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193021022">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,25:44:99:690,0,483:99	1|0:25,24:49:99:685,0,771:99	0|0:33,0:33:99:0,99,1217:99
1	193039658	.	CT	C	1118.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=114;MQ=70.02;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.580+895delT;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:RNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.581delT;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:RNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.581delT;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:RNA-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.581delT;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TROVE];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.581delT;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TROVE];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.581delT;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TROVE];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.581delT;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TROVE];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.581delT;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TROVE];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.581delT;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367446;SAVANT_GENE=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;SAVANT_INFO=+/26.0kb/9/3.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.580+909delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TROVE2+c.580+909delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193039658">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,7:36:42:42,0,600:42	0/1:36,18:54:99:239,0,703:42	0/1:16,8:24:99:119,0,310:42
1	193051685	.	G	A	20002.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2275444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275444" target="_blank">rs2275444</a>;ExAC.Info.AC=84459;ExAC.Info.AN=125090;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=26179;ExAC.Info.AC_Hom=29026;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1318-7G>A;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:VWFA-like_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1318G>A;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:VWFA-like_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1318G>A;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:VWFA-like_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1318G>A;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:VWFA-like_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1318G>A;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:VWFA-like_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1318G>A;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1318G>A;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367446;SAVANT_GENE=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;SAVANT_INFO=+/26.0kb/9/3.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1318-7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TROVE2+c.1318-7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193051685">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2109,180,0:127	1|1:0,99:99:99:3564,298,0:127	1|1:0,95:95:99:3614,286,0:127
1	193054088	.	C	T	1906.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72740218;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72740218" target="_blank">rs72740218</a>;ExAC.Info.AC=1204;ExAC.Info.AN=50988;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=734;ExAC.Info.AC_Hom=26;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367446;SAVANT_GENE=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;SAVANT_INFO=+/26.0kb/9/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*227C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TROVE2+c.*227C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193054088">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,217,2805:127	0|0:65,0:65:99:0,196,2576:127	0|1:32,31:63:99:972,0,894:127
1	193054154	.	G	A	2376.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10921309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10921309" target="_blank">rs10921309</a>;ExAC.Info.AC=8741;ExAC.Info.AN=27050;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=4168;ExAC.Info.AC_Hom=1593;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367446;SAVANT_GENE=TROVE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TROVE2" target="_blank">TROVE2</a>;SAVANT_INFO=+/26.0kb/9/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*293G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TROVE2+c.*293G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193054154">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,253,2968:127	0|1:45,40:85:99:1207,0,1283:127	0|0:86,0:86:99:0,259,3024:127
1	193074651	.	T	A	9726.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10921310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10921310" target="_blank">rs10921310</a>;ExAC.Info.AC=84436;ExAC.Info.AN=123348;ExAC.Info.AF=0.685;ExAC.Info.AC_Het=13055;ExAC.Info.AC_Hom=18105;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Tgg;snpeff.Amino_Acid_Change=p.Arg40Trp/c.118A>T;snpeff.Amino_Acid_length=165;snpeff.Gene_Name=GLRX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX2" target="_blank">GLRX2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367440;SAVANT_GENE=GLRX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX2" target="_blank">GLRX2</a>;SAVANT_INFO=-/9.6kb/4/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.118A>T_p.Arg40Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLRX2+c.118A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193074651">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1096,96,0:101	1|1:0,42:42:99:1446,126,0:101	1|1:0,34:34:99:1154,102,0:101
1	193090865	.	C	A	11865.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10737621;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10737621" target="_blank">rs10737621</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10737621" target="_blank">rs10737621</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193090865">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,49:88:99:1228,0,1090:127	0|1:61,42:103:99:1101,0,1838:127	1|1:0,71:71:99:2468,213,0:127
1	193091319	.	A	AG	2061.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3)|Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3)|Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3);snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=11;snpeff.Amino_Acid_Change=c.-11_-12insG;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367435;SAVANT_GENE=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;SAVANT_INFO=+/131.9kb/17/5.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4dupG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC73+c.-4dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193091319">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,229,2272:127	0|1:42,45:87:99:1054,0,991:127	0|0:92,1:93:99:0,251,2726:127
1	193111228	.	TGA	T	944.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=467;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3)|Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3)|Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3);dbSNP139.ID=rs147167392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147167392" target="_blank">rs147167392</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.729+33_729+34delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CTNNB1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CTNNB1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730_731delGA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367435;SAVANT_GENE=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;SAVANT_INFO=+/131.9kb/17/5.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.729+50_729+51delAG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC73+c.729+50_729+51delAG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193111228">View</a>	GT:AD:DP:GQ:PL:TP	0/1:132,15:147:32:32,0,4205:32	0/1:156,18:174:99:119,0,5070:32	0/1:130,16:146:99:158,0,4190:32
1	193150219	.	A	G	17669.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=923;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3)|Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3)|Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3);dbSNP139.ID=rs28930674;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28930674" target="_blank">rs28930674</a>;ExAC.Info.AC=4630;ExAC.Info.AN=126702;ExAC.Info.AF=0.037;ExAC.Info.AC_Het=4452;ExAC.Info.AC_Hom=88;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.973-22706A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474A>G;snpeff.Amino_Acid_length=422;snpeff.Gene_Name=B3GALT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367434;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala158Ala/c.474T>C;snpeff.Amino_Acid_length=422;snpeff.Gene_Name=B3GALT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367434;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367434:ENST00000367435;SAVANT_GENE=B3GALT2:CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALT2:CDC73" target="_blank">B3GALT2:CDC73</a>;SAVANT_INFO=-/7.6kb/2/3.3kb:+/131.9kb/17/5.0kb;SAVANT_LOC=Ex2:In10/11;SAVANT_HGVS=c.474T>C_p.=:c.973-22706A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B3GALT2:CDC73+c.474T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193150219">View</a>	GT:AD:DP:GQ:PL:TP	0|1:148,136:284:99:3740,0,4291:127	1|0:159,158:317:99:4380,0,4452:127	0|0:322,0:322:99:0,967,11414:127
1	193173028	.	A	G	6758.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3)|Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3)|Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3);dbSNP139.ID=rs72740231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72740231" target="_blank">rs72740231</a>;ExAC.Info.AC=7;ExAC.Info.AN=126700;ExAC.Info.AF=5.525e-05;ExAC.Info.AC_Het=7;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1030+46A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1031A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1031A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1031A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1031A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1031A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1031A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1031A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1031A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1031A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1031A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1031A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367435;SAVANT_GENE=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;SAVANT_INFO=+/131.9kb/17/5.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1030+46A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC73+c.1030+46A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193173028">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,52:105:99:1638,0,1440:127	1|0:80,57:137:99:1741,0,2247:127	0|0:94,0:94:99:0,283,3254:127
1	193218843	.	C	G	8524.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=828;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3)|Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3)|Hyperparathyroidism-jaw_tumor_syndrome|_145001_(3)|_Hyperparathyroidism|_familial_primary|_145000_(3)|_Parathyroid_adenoma_with_cystic_changes|_145001_(3)|_Parathyroid_carcinoma|_608266_(3);dbSNP139.ID=rs11583414;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11583414" target="_blank">rs11583414</a>;ExAC.Info.AC=7469;ExAC.Info.AN=126672;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=6786;ExAC.Info.AC_Hom=320;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000020880;Clinvar.PhenotypeIDs=GeneReviews:NBK3789|MedGen:C0687150|OMIM:608266|Orphanet:ORPHA143|SNOMED_CT:255037004;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1418-17C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_POLR2A_and_PAF1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418C>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367435;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367435;SAVANT_GENE=CDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC73" target="_blank">CDC73</a>;SAVANT_INFO=+/131.9kb/17/5.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1418-17C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC73+c.1418-17C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:193218843">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020880" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:230,0:230:99:0,691,8529:127	0|1:189,140:329:99:4281,0,5861:127	0|0:269,0:269:99:0,808,9848:127
1	196227526	.	A	G	22721.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs977157;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=977157" target="_blank">rs977157</a>;ExAC.Info.AC=126225;ExAC.Info.AN=126704;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=465;ExAC.Info.AC_Hom=62854;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3009A>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp1003Asp/c.3009T>C;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294725;SAVANT_GENE=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;SAVANT_INFO=-/380.2kb/28/3.6kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.3009T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNT2+c.3009T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196227526">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:3202,259,0:127	1|1:0,101:101:99:3603,304,0:127	1|1:0,80:80:99:2977,241,0:127
1	196438244	.	C	G	6499.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs61820754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61820754" target="_blank">rs61820754</a>;ExAC.Info.AC=1830;ExAC.Info.AN=121028;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=894;ExAC.Info.AC_Hom=15;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.385-46G>C;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.385C>G;snpeff.Amino_Acid_length=1135;snpeff.Gene_Name=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294725;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294725;SAVANT_GENE=KCNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNT2" target="_blank">KCNT2</a>;SAVANT_INFO=-/380.2kb/28/3.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.385-46G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNT2+c.385-46G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196438244">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,27:56:99:754,0,725:127	0|0:73,0:73:99:0,219,2457:127	1|1:0,61:61:99:2147,183,0:127
1	196642233	.	G	A	28232.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=818;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs800292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=800292" target="_blank">rs800292</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Membranoproliferative_glomerulonephritis|_association;hgmd_2014.2.OMIM_ID=134370;hgmd_2014.2.PubMed=16299065;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16299065" target="_blank">16299065</a>;ExAC.Info.AC=40592;ExAC.Info.AN=126700;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=25122;ExAC.Info.AC_Hom=7695;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val62Ile/c.184G>A;snpeff.Amino_Acid_length=1231;snpeff.Gene_Name=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367429;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367429;SAVANT_GENE=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;SAVANT_INFO=+/95.6kb/22/4.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.184G>A_p.Val62Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFH+c.184G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196642233">View</a>	GT:AD:DP:GQ:PL:TP	0|1:136,113:249:99:2878,0,4257:127	1|1:3,306:309:99:10023,838,0:127	0|0:260,0:260:99:0,781,9037:127
1	196642969	.	C	CTT	21816.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=583;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs35507625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35507625" target="_blank">rs35507625</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.245-17_245-16insTT;snpeff.Amino_Acid_length=1231;snpeff.Gene_Name=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367429;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367429;SAVANT_GENE=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;SAVANT_INFO=+/95.6kb/22/4.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.245-10_245-9dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFH+c.245-10_245-9dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196642969">View</a>	GT:AD:DP:GQ:PL:TP	0|1:87,88:175:99:2789,0,2720:127	1|1:1,209:210:99:7877,593,0:127	0|0:198,0:198:99:0,595,7440:127
1	196654324	.	A	C	81084.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1069;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1061147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061147" target="_blank">rs1061147</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Macular_degeneration|_age-related|_association_with;hgmd_2014.2.OMIM_ID=134370;hgmd_2014.2.PubMed=15870199;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15870199" target="_blank">15870199</a>;ExAC.Info.AC=84332;ExAC.Info.AN=126688;ExAC.Info.AF=0.666;ExAC.Info.AC_Het=26534;ExAC.Info.AC_Hom=28835;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcC;snpeff.Amino_Acid_Change=p.Ala307Ala/c.921A>C;snpeff.Amino_Acid_length=1231;snpeff.Gene_Name=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367429;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367429;SAVANT_GENE=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;SAVANT_INFO=+/95.6kb/22/4.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.921A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFH+c.921A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196654324">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,352:352:99:12689,1058,0:127	1|1:1,370:371:99:13246,1074,0:127	1|1:0,346:346:99:12390,1039,0:127
1	196658497	.	G	T	8793.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs482934;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=482934" target="_blank">rs482934</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.965-53G>T;snpeff.Amino_Acid_length=1231;snpeff.Gene_Name=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367429;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367429;SAVANT_GENE=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;SAVANT_INFO=+/95.6kb/22/4.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.965-53G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFH+c.965-53G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196658497">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1564,135,0:122	1|1:0,46:46:99:1688,138,0:122	1|1:0,41:41:99:1469,123,0:122
1	196659237	.	C	T	28820.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=396;MQ=69.91;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1061170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061170" target="_blank">rs1061170</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Macular_degeneration|_age-related|_association_with;hgmd_2014.2.OMIM_ID=134370;hgmd_2014.2.PubMed=15761120;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15761120" target="_blank">15761120</a>;ExAC.Info.AC=84774;ExAC.Info.AN=126574;ExAC.Info.AF=0.670;ExAC.Info.AC_Het=26344;ExAC.Info.AC_Hom=28904;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cat/Tat;snpeff.Amino_Acid_Change=p.His402Tyr/c.1204C>T;snpeff.Amino_Acid_length=1231;snpeff.Gene_Name=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367429;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367429;SAVANT_GENE=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;SAVANT_INFO=+/95.6kb/22/4.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1204C>T_p.His402Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFH+c.1204C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196659237">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,128:128:99:4081,385,0:127	1|1:0,133:133:99:4377,400,0:127	1|1:0,135:135:99:4384,406,0:127
1	196682947	.	G	A	34823.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=972;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2274700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274700" target="_blank">rs2274700</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Membranoproliferative_glomerulonephritis|_association;hgmd_2014.2.OMIM_ID=134370;hgmd_2014.2.PubMed=16299065;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16299065" target="_blank">16299065</a>;ExAC.Info.AC=55868;ExAC.Info.AN=126610;ExAC.Info.AF=0.441;ExAC.Info.AC_Het=30708;ExAC.Info.AC_Hom=12482;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala473Ala/c.1419G>A;snpeff.Amino_Acid_length=1231;snpeff.Gene_Name=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367429;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367429;SAVANT_GENE=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;SAVANT_INFO=+/95.6kb/22/4.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1419G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFH+c.1419G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196682947">View</a>	GT:AD:DP:GQ:PL:TP	0|1:156,132:288:99:3554,0,4408:127	1|1:2,381:383:99:13000,1101,0:127	0|0:301,0:301:99:0,905,10310:127
1	196712577	.	T	C	5961.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=674;MQ=68.20;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs513699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=513699" target="_blank">rs513699</a>;ExAC.Info.AC=32525;ExAC.Info.AN=126702;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=32135;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3134-5T>C;snpeff.Amino_Acid_length=1231;snpeff.Gene_Name=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367429;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3134T>C;snpeff.Amino_Acid_length=1231;snpeff.Gene_Name=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367429;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367429;SAVANT_GENE=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;SAVANT_INFO=+/95.6kb/22/4.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.3134-5T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFH+c.3134-5T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196712577">View</a>	GT:AD:DP:GQ:PL:TP	0|1:173,27:200:99:714,0,7214:127	1|0:183,63:246:99:2220,0,7435:127	0|0:228,0:228:99:0,707,10371:127
1	196712586	.	C	T	7256.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=750;MQ=68.35;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61822181;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61822181" target="_blank">rs61822181</a>;ExAC.Info.AC=32601;ExAC.Info.AN=126702;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=32214;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr1046Thr/c.3138C>T;snpeff.Amino_Acid_length=1231;snpeff.Gene_Name=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367429;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367429;SAVANT_GENE=CFH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFH" target="_blank">CFH</a>;SAVANT_INFO=+/95.6kb/22/4.1kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.3138C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFH+c.3138C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196712586">View</a>	GT:AD:DP:GQ:PL:TP	0|1:190,38:228:99:913,0,7740:127	1|0:192,81:273:99:2673,0,7799:127	0|0:249,0:249:99:0,758,11041:127
1	196757392	.	C	T	3780.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=202;MQ=60.91;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs400344;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=400344" target="_blank">rs400344</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=62267;ExAC.Info.AN=116214;ExAC.Info.AF=0.536;ExAC.Info.AC_Het=14326;ExAC.Info.AC_Hom=13904;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR3" target="_blank">CFHR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367425;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR3" target="_blank">CFHR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367425;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR3" target="_blank">CFHR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367425;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR3" target="_blank">CFHR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367425;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser159Ser/c.477C>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR3" target="_blank">CFHR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367425;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367425;SAVANT_GENE=CFHR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR3" target="_blank">CFHR3</a>;SAVANT_INFO=+/19.3kb/6/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.477C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR3+c.477C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196757392">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,33:75:99:836,0,1287:120	1|1:0,40:40:99:1394,120,0:120	0|0:87,0:87:99:0,262,2929:120
1	196796184	.	G	A	11377.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs399507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=399507" target="_blank">rs399507</a>;ExAC.Info.AC=53310;ExAC.Info.AN=119512;ExAC.Info.AF=0.446;ExAC.Info.AC_Het=19101;ExAC.Info.AC_Hom=16024;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.430+49G>A;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+7152G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320493;SAVANT_GENE=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;SAVANT_INFO=+/12.4kb/6/1.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.430+49G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR1+c.430+49G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196796184">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,51:97:99:1328,0,1307:127	1|1:0,126:126:99:4329,379,0:127	0|0:111,0:111:99:0,334,3912:127
1	196797238	.	C	T	6581.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=471;MQ=68.06;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs425757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=425757" target="_blank">rs425757</a>;ExAC.Info.AC=38657;ExAC.Info.AN=117712;ExAC.Info.AF=0.328;ExAC.Info.AC_Het=11994;ExAC.Info.AC_Hom=6146;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+8206C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.469C>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.469C>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.469C>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cat/Tat;snpeff.Amino_Acid_Change=p.His157Tyr/c.469C>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320493;SAVANT_GENE=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;SAVANT_INFO=+/12.4kb/6/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.469C>T_p.His157Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR1+c.469C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196797238">View</a>	GT:AD:DP:GQ:PL:TP	0|1:123,24:147:99:651,0,5175:127	1|1:0,57:57:99:2497,172,0:127	0|0:267,0:267:99:0,834,12277:127
1	196797244	.	C	G	6166.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=482;MQ=68.09;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs113811987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113811987" target="_blank">rs113811987</a>;ExAC.Info.AC=38215;ExAC.Info.AN=117472;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=11178;ExAC.Info.AC_Hom=4043;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+8212C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.475C>G;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.475C>G;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.475C>G;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Gtg;snpeff.Amino_Acid_Change=p.Leu159Val/c.475C>G;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320493;SAVANT_GENE=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;SAVANT_INFO=+/12.4kb/6/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.475C>G_p.Leu159Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR1+c.475C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196797244">View</a>	GT:AD:DP:GQ:PL:TP	0|1:126,24:150:99:656,0,5213:127	1|1:0,51:51:99:2368,160,0:127	0|0:281,0:281:99:0,849,12545:127
1	196797292	.	G	C	1763.99	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=492;MQ=68.15;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs388862;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=388862" target="_blank">rs388862</a>;ExAC.Info.AC=24356;ExAC.Info.AN=112894;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=1870;ExAC.Info.AC_Hom=2553;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+8260G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.523G>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.523G>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.523G>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Caa;snpeff.Amino_Acid_Change=p.Glu175Gln/c.523G>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320493;SAVANT_GENE=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;SAVANT_INFO=+/12.4kb/6/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.523G>C_p.Glu175Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR1+c.523G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196797292">View</a>	GT:AD:DP:GQ:PL:TP	0|1:154,11:165:0:0,43,4810:22	1|1:0,22:22:66:908,66,0:22	0|0:305,0:305:99:0,917,11126:22
1	196797357	.	A	G	1196.87	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=453;MQ=65.41;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3201739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3201739" target="_blank">rs3201739</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=28455;ExAC.Info.AN=116228;ExAC.Info.AF=0.245;ExAC.Info.AC_Het=4132;ExAC.Info.AC_Hom=4392;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+8325A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588A>G;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588A>G;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588A>G;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr196Thr/c.588A>G;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320493;SAVANT_GENE=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;SAVANT_INFO=+/12.4kb/6/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.588A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR1+c.588A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196797357">View</a>	GT:AD:DP:GQ:PL:TP	0|0:140,12:152:17:0,17,4143:6	0|1:2,18:20:0:623,11,0:6	0|0:281,0:281:99:0,844,9781:6
1	196797493	.	T	C	9144.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=347;MQ=63.46;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs28369298;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28369298" target="_blank">rs28369298</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.607+117T>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+8461T>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608T>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608T>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320493;SAVANT_GENE=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;SAVANT_INFO=+/12.4kb/6/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.607+117T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR1+c.607+117T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196797493">View</a>	GT:AD:DP:GQ:PL:TP	0|1:73,46:119:99:1212,0,2069:127	1|1:0,108:108:99:3515,324,0:127	0|0:120,0:120:99:0,360,3969:127
1	196801042	.	G	T	28674.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=928;MQ=64.16;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4230" target="_blank">rs4230</a>;ExAC.Info.AC=54500;ExAC.Info.AN=120136;ExAC.Info.AF=0.454;ExAC.Info.AC_Het=19068;ExAC.Info.AC_Hom=17496;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+12010G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906G>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906G>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgT;snpeff.Amino_Acid_Change=p.Arg302Arg/c.906G>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320493;SAVANT_GENE=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;SAVANT_INFO=+/12.4kb/6/1.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.906G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR1+c.906G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196801042">View</a>	GT:AD:DP:GQ:PL:TP	0|1:165,113:278:99:2897,0,4830:127	1|1:1,308:309:99:10614,889,0:127	0|0:341,0:341:99:0,1025,12025:127
1	196801078	.	A	T	22744.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=808;MQ=62.53;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs414628;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=414628" target="_blank">rs414628</a>;ExAC.Info.AC=51492;ExAC.Info.AN=119904;ExAC.Info.AF=0.429;ExAC.Info.AC_Het=19096;ExAC.Info.AC_Hom=15809;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+12046A>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.942A>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.942A>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgT;snpeff.Amino_Acid_Change=p.Arg314Arg/c.942A>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320493;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320493;SAVANT_GENE=CFHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR1" target="_blank">CFHR1</a>;SAVANT_INFO=+/12.4kb/6/1.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.942A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR1+c.942A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196801078">View</a>	GT:AD:DP:GQ:PL:TP	0|1:159,95:254:99:2325,0,4263:127	1|1:1,247:248:99:8425,709,0:127	0|0:306,0:306:99:0,920,10323:127
1	196874356	.	G	T	47736.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=638;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10801578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10801578" target="_blank">rs10801578</a>;ExAC.Info.AC=126391;ExAC.Info.AN=126638;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=224;ExAC.Info.AC_Hom=62943;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.59-44229G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaT;snpeff.Amino_Acid_Change=p.Glu124Asp/c.372G>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=CFHR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367416;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367416;SAVANT_GENE=CFHR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR4" target="_blank">CFHR4</a>;SAVANT_INFO=+/30.7kb/10/2.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.372G>T_p.Glu124Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR4+c.372G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196874356">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,194:194:99:6640,583,0:127	1|1:0,222:222:99:7706,667,0:127	1|1:0,222:222:99:7828,667,0:127
1	196920148	.	C	T	5743.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=371;MQ=69.97;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4085749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4085749" target="_blank">rs4085749</a>;ExAC.Info.AC=37705;ExAC.Info.AN=126674;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=22865;ExAC.Info.AC_Hom=7378;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys140Cys/c.420C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367415;SAVANT_GENE=CFHR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR2" target="_blank">CFHR2</a>;SAVANT_INFO=+/15.4kb/5/1.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.420C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR2+c.420C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196920148">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,57:107:99:1309,0,1377:127	1|0:88,57:145:99:1428,0,2633:127	0|0:119,0:119:99:0,357,4123:127
1	196967458	.	G	T	9817.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=567;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Nephropathy_due_to_CFHR5_deficiency|_614809_(3);dbSNP139.ID=rs1332664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1332664" target="_blank">rs1332664</a>;ExAC.Info.AC=30740;ExAC.Info.AN=126608;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=19139;ExAC.Info.AC_Hom=5509;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1219+24G>T;snpeff.Amino_Acid_length=593;snpeff.Gene_Name=CFHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR5" target="_blank">CFHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367414;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256785;SAVANT_GENE=CFHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFHR5" target="_blank">CFHR5</a>;SAVANT_INFO=+/32.1kb/10/2.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1147+24G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CFHR5+c.1147+24G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:196967458">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,85:164:99:2483,0,2369:127	1|0:113,94:207:99:2605,0,3516:127	0|0:196,0:196:99:0,589,7232:127
1	197008365	.	C	T	11097.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Factor_XIIIB_deficiency|_613235_(3);dbSNP139.ID=rs698859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=698859" target="_blank">rs698859</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=143;snpeff.Amino_Acid_Change=c.*143G>A;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367412;SAVANT_GENE=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;SAVANT_INFO=-/28.1kb/12/2.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*143G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F13B+c.*143G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197008365">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,58:127:99:1439,0,1973:127	0|0:152,0:152:99:0,457,5271:127	1|1:1,123:124:99:4106,362,0:127
1	197008597	.	A	C	11050.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_XIIIB_deficiency|_613235_(3);dbSNP139.ID=rs5990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5990" target="_blank">rs5990</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1953-56T>G;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367412;SAVANT_GENE=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;SAVANT_INFO=-/28.1kb/12/2.2kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1953-56T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F13B+c.1953-56T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197008597">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,32:83:99:985,0,1463:127	1|1:0,108:108:99:4332,325,0:127	0|0:97,0:97:99:0,292,3379:127
1	197009798	.	A	G	28413.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=756;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_XIIIB_deficiency|_613235_(3);dbSNP139.ID=rs5998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5998" target="_blank">rs5998</a>;ExAC.Info.AC=66437;ExAC.Info.AN=126650;ExAC.Info.AF=0.525;ExAC.Info.AC_Het=28735;ExAC.Info.AC_Hom=18678;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1806A>G;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1806A>G;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn602Asn/c.1806T>C;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367412;SAVANT_GENE=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;SAVANT_INFO=-/28.1kb/12/2.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1806T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F13B+c.1806T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197009798">View</a>	GT:AD:DP:GQ:PL:TP	0|1:122,114:236:99:3477,0,3155:127	1|1:0,298:298:99:10562,895,0:127	0|0:222,0:222:99:0,667,7472:127
1	197030201	.	T	C	33687.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_XIIIB_deficiency|_613235_(3);dbSNP139.ID=rs5997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5997" target="_blank">rs5997</a>;ExAC.Info.AC=111197;ExAC.Info.AN=126476;ExAC.Info.AF=0.879;ExAC.Info.AC_Het=10916;ExAC.Info.AC_Hom=49484;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.456T>C;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.456T>C;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.456T>C;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr152Thr/c.456A>G;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367412;SAVANT_GENE=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;SAVANT_INFO=-/28.1kb/12/2.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.456A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F13B+c.456A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197030201">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:5879,508,0:127	1|1:0,193:193:99:6811,579,0:127	1|1:0,138:138:99:5055,415,0:127
1	197031021	.	C	T	58627.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=770;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Factor_XIIIB_deficiency|_613235_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6003" target="_blank">rs6003</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Myocardial_infarction|_risk|_association_with;hgmd_2014.2.OMIM_ID=134580;hgmd_2014.2.PubMed=12941053;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12941053" target="_blank">12941053</a>;ExAC.Info.AC=110521;ExAC.Info.AN=126630;ExAC.Info.AF=0.873;ExAC.Info.AC_Het=11139;ExAC.Info.AC_Hom=49490;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000017984;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344C>T;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344C>T;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.344C>T;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg115His/c.344G>A;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367412;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367412;SAVANT_GENE=F13B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F13B" target="_blank">F13B</a>;SAVANT_INFO=-/28.1kb/12/2.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.344G>A_p.Arg115His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F13B+c.344G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197031021">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017984" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,237:237:99:8017,712,0:127	1|1:0,277:277:99:9841,832,0:127	1|1:0,256:256:99:8882,769,0:127
1	197053561	.	TA	T	4306.29	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs369160994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=369160994" target="_blank">rs369160994</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10332-6delT;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.10332-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.10332-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197053561">View</a>	GT:AD:DP:GQ:PL	./0:39,12:82:99:426,408,1744	0/1:86,28:121:99:307,0,2002	./0:32,3:107:99:1281,1567,3292
1	197053561	.	TA	TAA	4306.29	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10332-6_10332-7insT;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.10332-6dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.10332-6dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197053561">View</a>	GT:AD:DP:GQ:PL	0/1:39,31:82:99:426,0,830	./0:86,7:121:99:307,487,2515	0/1:32,72:107:99:1281,0,500
1	197055925	.	T	C	34762.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs10754213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10754213" target="_blank">rs10754213</a>;ExAC.Info.AC=111336;ExAC.Info.AN=126674;ExAC.Info.AF=0.879;ExAC.Info.AC_Het=11016;ExAC.Info.AC_Hom=50098;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000145076;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10331+8A>G;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10332A>G;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.10331+8A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.10331+8A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197055925">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000145076" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:4031,357,0:127	1|1:0,190:190:99:6366,571,0:127	1|1:0,160:160:99:5315,480,0:127
1	197063352	.	C	T	17797.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=583;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs41304071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41304071" target="_blank">rs41304071</a>;ExAC.Info.AC=37316;ExAC.Info.AN=123518;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=14321;ExAC.Info.AC_Hom=4112;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000145223;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8988-42G>A;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.8988-42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.8988-42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197063352">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000145223" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:100,93:193:99:2568,0,3108:127	0|0:204,0:204:99:0,613,7640:127	1|1:0,186:186:99:6390,558,0:127
1	197070442	.	G	T	18470.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=629;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3762271;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3762271" target="_blank">rs3762271</a>;ExAC.Info.AC=42942;ExAC.Info.AN=126556;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=26342;ExAC.Info.AC_Hom=8064;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000020801|RCV000145204;Clinvar.PhenotypeIDs=GeneReviews:NBK9587|MedGen:C1837501|OMIM:608716|Orphanet:ORPHA2512|MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:IQ_28];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7939G>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Att;snpeff.Amino_Acid_Change=p.Leu2647Ile/c.7939C>A;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.7939C>A_p.Leu2647Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.7939C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197070442">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020801%20OR%20RCV000145204" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:112,68:180:99:1837,0,3583:127	0|0:256,0:256:99:0,769,9188:127	1|1:0,193:193:99:6877,580,0:127
1	197070697	.	T	C	11610.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41310927;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41310927" target="_blank">rs41310927</a>;ExAC.Info.AC=43036;ExAC.Info.AN=126634;ExAC.Info.AF=0.340;ExAC.Info.AC_Het=26452;ExAC.Info.AC_Hom=8180;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000020795|RCV000145195;Clinvar.PhenotypeIDs=GeneReviews:NBK9587|MedGen:C1837501|OMIM:608716|Orphanet:ORPHA2512|MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser2562Gly/c.7684A>G;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.7684A>G_p.Ser2562Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.7684A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197070697">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020795%20OR%20RCV000145195" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:45,27:72:99:1083,0,1768:127	0|0:91,1:92:99:0,240,4026:127	1|1:0,89:89:99:3902,271,0:127
1	197070707	.	G	A	12179.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs41308365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41308365" target="_blank">rs41308365</a>;ExAC.Info.AC=42975;ExAC.Info.AN=126634;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=26475;ExAC.Info.AC_Hom=8146;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000020794|RCV000123703|RCV000145194;Clinvar.PhenotypeIDs=GeneReviews:NBK9587|MedGen:C1837501|OMIM:608716|Orphanet:ORPHA2512|MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:IQ_27];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7674G>A;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile2558Ile/c.7674C>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.7674C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.7674C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197070707">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020794%20OR%20RCV000123703%20OR%20RCV000145194" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:45,31:76:99:1108,0,1741:127	0|0:94,1:95:99:0,246,4114:127	1|1:0,92:92:99:4149,286,0:127
1	197070776	.	C	T	7873.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs10922162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10922162" target="_blank">rs10922162</a>;ExAC.Info.AC=30471;ExAC.Info.AN=126650;ExAC.Info.AF=0.241;ExAC.Info.AC_Het=19045;ExAC.Info.AC_Hom=5657;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000020793|RCV000123702|RCV000145189;Clinvar.PhenotypeIDs=GeneReviews:NBK9587|MedGen:C1837501|OMIM:608716|Orphanet:ORPHA2512|MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:IQ_27];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7605C>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val2535Val/c.7605G>A;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.7605G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.7605G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197070776">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020793%20OR%20RCV000123702%20OR%20RCV000145189" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:49,51:100:99:1538,0,1466:127	1|0:66,60:126:99:1713,0,1971:127	0|0:125,0:125:99:0,375,4430:127
1	197070815	.	T	C	32202.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs1412640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1412640" target="_blank">rs1412640</a>;ExAC.Info.AC=112470;ExAC.Info.AN=126644;ExAC.Info.AF=0.888;ExAC.Info.AC_Het=10920;ExAC.Info.AC_Hom=50588;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000020792|RCV000145187;Clinvar.PhenotypeIDs=GeneReviews:NBK9587|MedGen:C1837501|OMIM:608716|Orphanet:ORPHA2512|MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttA/ttG;snpeff.Amino_Acid_Change=p.Leu2522Leu/c.7566A>G;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.7566A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.7566A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197070815">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020792%20OR%20RCV000145187" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:4380,379,0:127	1|1:0,131:131:99:4799,394,0:127	1|1:0,141:141:99:5161,424,0:127
1	197070901	.	A	G	35497.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs964201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=964201" target="_blank">rs964201</a>;ExAC.Info.AC=126123;ExAC.Info.AN=126676;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=548;ExAC.Info.AC_Hom=62662;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000020789|RCV000123700|RCV000145183;Clinvar.PhenotypeIDs=GeneReviews:NBK9587|MedGen:C1837501|OMIM:608716|Orphanet:ORPHA2512|MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Cac;snpeff.Amino_Acid_Change=p.Tyr2494His/c.7480T>C;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.7480T>C_p.Tyr2494His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.7480T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197070901">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020789%20OR%20RCV000123700%20OR%20RCV000145183" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,139:139:99:4943,418,0:127	1|1:0,141:141:99:5254,423,0:127	1|1:0,156:156:99:5664,468,0:127
1	197072420	.	T	C	14329.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs41310925;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41310925" target="_blank">rs41310925</a>;ExAC.Info.AC=43109;ExAC.Info.AN=126688;ExAC.Info.AF=0.340;ExAC.Info.AC_Het=26472;ExAC.Info.AC_Hom=8295;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000020783|RCV000145156;Clinvar.PhenotypeIDs=GeneReviews:NBK9587|MedGen:C1837501|OMIM:608716|Orphanet:ORPHA2512|MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:IQ_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5961T>C;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln1987Gln/c.5961A>G;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.5961A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.5961A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197072420">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020783%20OR%20RCV000145156" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:53,48:101:99:1618,0,1509:127	0|0:104,0:104:99:0,312,3734:127	1|1:0,125:125:99:4961,376,0:127
1	197073932	.	T	C	8026.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs2878749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2878749" target="_blank">rs2878749</a>;ExAC.Info.AC=42922;ExAC.Info.AN=126396;ExAC.Info.AF=0.340;ExAC.Info.AC_Het=25974;ExAC.Info.AC_Hom=8124;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000020776|RCV000145131;Clinvar.PhenotypeIDs=GeneReviews:NBK9587|MedGen:C1837501|OMIM:608716|Orphanet:ORPHA2512|MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys1483Lys/c.4449A>G;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.4449A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.4449A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197073932">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020776%20OR%20RCV000145131" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:42,30:72:99:960,0,1209:127	0|0:109,0:109:99:0,328,3979:127	1|1:0,70:70:99:2644,210,0:127
1	197091537	.	A	T	33433.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=431;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs4915337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4915337" target="_blank">rs4915337</a>;ExAC.Info.AC=111342;ExAC.Info.AN=126692;ExAC.Info.AF=0.879;ExAC.Info.AC_Het=11058;ExAC.Info.AC_Hom=50041;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000020768|RCV000145113;Clinvar.PhenotypeIDs=GeneReviews:NBK9587|MedGen:C1837501|OMIM:608716|Orphanet:ORPHA2512|MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:CH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3579A>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3579A>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3579A>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcA;snpeff.Amino_Acid_Change=p.Ser1193Ser/c.3579T>A;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.3579T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.3579T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197091537">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020768%20OR%20RCV000145113" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,114:114:99:3918,342,0:127	1|1:0,178:178:99:6426,535,0:127	1|1:0,139:139:99:4674,417,0:127
1	197094030	.	C	T	6314.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=657;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs6676084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6676084" target="_blank">rs6676084</a>;ExAC.Info.AC=35478;ExAC.Info.AN=126694;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=24933;ExAC.Info.AC_Hom=5260;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000020763|RCV000145109;Clinvar.PhenotypeIDs=GeneReviews:NBK9587|MedGen:C1837501|OMIM:608716|Orphanet:ORPHA2512|MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3138C>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3138C>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3138C>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3138C>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg1046Arg/c.3138G>A;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.3138G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.3138G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197094030">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020763%20OR%20RCV000145109" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:210,0:210:99:0,630,7251:127	0|1:134,126:260:99:3176,0,3662:127	0|0:187,0:187:99:0,562,6386:127
1	197102745	.	A	G	7839.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs4915344;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4915344" target="_blank">rs4915344</a>;ExAC.Info.AC=30632;ExAC.Info.AN=126688;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=19153;ExAC.Info.AC_Hom=5663;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000123694|RCV000081935;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2174-20T>C;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.2174-20T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.2174-20T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197102745">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000123694%20OR%20RCV000081935" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:62,56:118:99:1623,0,1854:127	1|0:100,63:163:99:1840,0,3100:127	0|0:141,0:141:99:0,423,5134:127
1	197112533	.	G	A	70449.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=950;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs6677082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6677082" target="_blank">rs6677082</a>;ExAC.Info.AC=110303;ExAC.Info.AN=126698;ExAC.Info.AF=0.871;ExAC.Info.AC_Het=11124;ExAC.Info.AC_Hom=49548;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000081938;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser283Ser/c.849C>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphoserine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.849G>A;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.849C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.849C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197112533">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081938" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,314:314:99:11112,943,0:127	1|1:1,331:332:99:11843,987,0:127	1|1:0,304:304:99:10950,917,0:127
1	197113073	.	G	A	52940.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=794;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Microcephaly_5|_primary|_autosomal_recessive|_608716_(3);dbSNP139.ID=rs1571964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1571964" target="_blank">rs1571964</a>;ExAC.Info.AC=109989;ExAC.Info.AN=126544;ExAC.Info.AF=0.869;ExAC.Info.AC_Het=10945;ExAC.Info.AC_Hom=48182;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000081936;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.441+14C>T;snpeff.Amino_Acid_length=3477;snpeff.Gene_Name=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367409;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367409;SAVANT_GENE=ASPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASPM" target="_blank">ASPM</a>;SAVANT_INFO=-/62.6kb/28/10.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.441+14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASPM+c.441+14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197113073">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081936" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,250:250:99:8377,751,0:127	1|1:0,295:295:99:10188,886,0:127	1|1:0,249:249:99:8550,748,0:127
1	197128726	.	G	A	11736.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12128631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12128631" target="_blank">rs12128631</a>;ExAC.Info.AC=30450;ExAC.Info.AN=126704;ExAC.Info.AF=0.240;ExAC.Info.AC_Het=19054;ExAC.Info.AC_Hom=5689;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu831Leu/c.2493C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ZBTB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB41" target="_blank">ZBTB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367405;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367405;SAVANT_GENE=ZBTB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB41" target="_blank">ZBTB41</a>;SAVANT_INFO=-/41.2kb/10/2.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.2493C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB41+c.2493C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197128726">View</a>	GT:AD:DP:GQ:PL:TP	0|1:83,76:159:99:2068,0,2474:127	1|0:78,95:173:99:2703,0,2203:127	0|0:168,0:168:99:0,505,6138:127
1	197141243	.	A	C	38938.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=630;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6428389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6428389" target="_blank">rs6428389</a>;ExAC.Info.AC=77901;ExAC.Info.AN=98164;ExAC.Info.AF=0.794;ExAC.Info.AC_Het=2574;ExAC.Info.AC_Hom=7710;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2074+47T>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ZBTB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB41" target="_blank">ZBTB41</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367405;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367405;SAVANT_GENE=ZBTB41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBTB41" target="_blank">ZBTB41</a>;SAVANT_INFO=-/41.2kb/10/2.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.2074+47T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBTB41+c.2074+47T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197141243">View</a>	GT:AD:DP:GQ:PL:TP	1|1:11,198:209:99:6273,173,0:127	1|1:9,232:241:99:7631,376,0:127	1|1:5,175:180:99:6068,374,0:127
1	197297540	.	A	T	5077.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Retinitis_pigmentosa-12|_autosomal_recessive|_600105_(3)|_Leber_congenital_amaurosis_8|_613835_(3)|_Pigmented_paravenous_chorioretinal_atrophy|_172870_(3);dbSNP139.ID=rs12042179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12042179" target="_blank">rs12042179</a>;ExAC.Info.AC=55292;ExAC.Info.AN=126576;ExAC.Info.AF=0.437;ExAC.Info.AC_Het=27834;ExAC.Info.AC_Hom=13320;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124604|RCV000082823;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.71-12A>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.71A>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.71A>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367400;SAVANT_GENE=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;SAVANT_INFO=+/210.2kb/12/4.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.71-12A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRB1+c.71-12A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197297540">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124604%20OR%20RCV000082823" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:90,53:143:99:1045,0,2499:127	1|0:73,67:140:99:1398,0,2146:127	0|0:161,0:161:99:0,484,5502:127
1	197325908	.	T	G	19515.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Retinitis_pigmentosa-12|_autosomal_recessive|_600105_(3)|_Leber_congenital_amaurosis_8|_613835_(3)|_Pigmented_paravenous_chorioretinal_atrophy|_172870_(3);dbSNP139.ID=rs2786098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2786098" target="_blank">rs2786098</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.989-53T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367400;SAVANT_GENE=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;SAVANT_INFO=+/210.2kb/12/4.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.989-53T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRB1+c.989-53T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197325908">View</a>	GT:AD:DP:GQ:PL:TP	0|1:80,82:162:99:2317,0,2339:127	1|1:0,202:202:99:6932,607,0:127	0|0:188,1:189:99:0,537,6852:127
1	197390368	.	A	G	34522.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=410;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Retinitis_pigmentosa-12|_autosomal_recessive|_600105_(3)|_Leber_congenital_amaurosis_8|_613835_(3)|_Pigmented_paravenous_chorioretinal_atrophy|_172870_(3);dbSNP139.ID=rs3902057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3902057" target="_blank">rs3902057</a>;ExAC.Info.AC=123981;ExAC.Info.AN=126704;ExAC.Info.AF=0.979;ExAC.Info.AC_Het=2061;ExAC.Info.AC_Hom=60956;snpeff.Effect=sequence_feature[domain:EGF-like_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu470Leu/c.1410A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367400;SAVANT_GENE=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;SAVANT_INFO=+/210.2kb/12/4.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1410A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRB1+c.1410A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197390368">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,114:114:99:4229,343,0:127	1|1:0,162:162:99:5976,487,0:127	1|1:0,134:134:99:4973,403,0:127
1	197398086	.	A	G	11880.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Retinitis_pigmentosa-12|_autosomal_recessive|_600105_(3)|_Leber_congenital_amaurosis_8|_613835_(3)|_Pigmented_paravenous_chorioretinal_atrophy|_172870_(3);dbSNP139.ID=rs7534863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7534863" target="_blank">rs7534863</a>;ExAC.Info.AC=5578;ExAC.Info.AN=14868;ExAC.Info.AF=0.375;ExAC.Info.AC_Het=2753;ExAC.Info.AC_Hom=1061;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2677-493A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2677A>G;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367400;SAVANT_GENE=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;SAVANT_INFO=+/210.2kb/12/4.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2677-493A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRB1+c.2677-493A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197398086">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,41:89:99:1211,0,1218:127	0|1:65,55:120:99:1529,0,1827:127	1|1:0,84:84:99:2978,252,0:127
1	197404770	.	G	T	4943.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Retinitis_pigmentosa-12|_autosomal_recessive|_600105_(3)|_Leber_congenital_amaurosis_8|_613835_(3)|_Pigmented_paravenous_chorioretinal_atrophy|_172870_(3);dbSNP139.ID=rs72740568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72740568" target="_blank">rs72740568</a>;ExAC.Info.AC=274;ExAC.Info.AN=126262;ExAC.Info.AF=2.170e-03;ExAC.Info.AC_Het=236;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3749+28G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3750G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367400;SAVANT_GENE=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;SAVANT_INFO=+/210.2kb/12/4.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.3749+28G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRB1+c.3749+28G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197404770">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,32:78:99:863,0,1316:127	0|0:69,0:69:99:0,207,2426:127	1|0:43,34:77:99:935,0,1167:127
1	197446702	.	G	T	14788.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Retinitis_pigmentosa-12|_autosomal_recessive|_600105_(3)|_Leber_congenital_amaurosis_8|_613835_(3)|_Pigmented_paravenous_chorioretinal_atrophy|_172870_(3);dbSNP139.ID=rs1135810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1135810" target="_blank">rs1135810</a>;ExAC.Info.AC=43654;ExAC.Info.AN=125318;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=18908;ExAC.Info.AC_Hom=5746;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4006-92G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4006G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4006G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4006G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4006G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4006G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4006G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4006G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4006G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4006G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4006G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4006G>T;snpeff.Amino_Acid_length=1406;snpeff.Gene_Name=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367400;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367400;SAVANT_GENE=CRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRB1" target="_blank">CRB1</a>;SAVANT_INFO=+/210.2kb/12/4.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.4006-92G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRB1+c.4006-92G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197446702">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,41:91:99:1112,0,1542:127	0|1:65,66:131:99:1928,0,1791:127	1|1:0,109:109:99:3622,327,0:127
1	197480927	.	C	T	3148.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12142127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12142127" target="_blank">rs12142127</a>;ExAC.Info.AC=34534;ExAC.Info.AN=126676;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=24480;ExAC.Info.AC_Hom=4980;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND1B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197480927">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,282,3201:127	0|1:76,57:133:99:1593,0,2304:127	0|0:112,0:112:99:0,336,3844:127
1	197704717	.	C	T	5836.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=601;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17641524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17641524" target="_blank">rs17641524</a>;ExAC.Info.AC=21729;ExAC.Info.AN=126108;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=17417;ExAC.Info.AC_Hom=2121;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.83-20513G>A;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367396;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367396;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367396;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367396;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367396;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367396;SAVANT_GENE=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;SAVANT_INFO=-/223.1kb/16/2.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.83-20513G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND1B+c.83-20513G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197704717">View</a>	GT:AD:DP:GQ:PL:TP	0|0:177,0:177:99:0,531,5923:127	0|1:126,112:238:99:2937,0,3520:127	0|0:186,0:186:99:0,558,6081:127
1	197741951	.	C	A	9991.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2477067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2477067" target="_blank">rs2477067</a>;ExAC.Info.AC=26431;ExAC.Info.AN=27112;ExAC.Info.AF=0.975;ExAC.Info.AC_Het=320;ExAC.Info.AC_Hom=10712;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.82+47G>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367396;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>A;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367396;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>A;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367396;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>A;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367396;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UDENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>A;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367396;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367396;SAVANT_GENE=DENND1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND1B" target="_blank">DENND1B</a>;SAVANT_INFO=-/223.1kb/16/2.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.82+47G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND1B+c.82+47G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197741951">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,46:47:99:1288,113,0:127	1|1:0,50:50:99:1424,150,0:127	1|1:0,48:48:99:1374,144,0:127
1	197872019	.	G	T	890.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4539165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4539165" target="_blank">rs4539165</a>;ExAC.Info.AC=16414;ExAC.Info.AN=102776;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=3353;ExAC.Info.AC_Hom=609;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcT;snpeff.Amino_Acid_Change=p.Ala80Ala/c.240G>T;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=C1orf53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf53" target="_blank">C1orf53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367393;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367393;SAVANT_GENE=C1orf53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf53" target="_blank">C1orf53</a>;SAVANT_INFO=+/4.7kb/3/0.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.240G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf53+c.240G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197872019">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,891:56	0|1:14,14:28:99:464,0,420:56	0|0:19,0:19:57:0,57,717:56
1	197874949	.	T	C	3644.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2270763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270763" target="_blank">rs2270763</a>;ExAC.Info.AC=43797;ExAC.Info.AN=124988;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=28067;ExAC.Info.AC_Hom=7846;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp96Asp/c.288T>C;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=C1orf53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf53" target="_blank">C1orf53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367393;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367393;SAVANT_GENE=C1orf53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf53" target="_blank">C1orf53</a>;SAVANT_INFO=+/4.7kb/3/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.288T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf53+c.288T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197874949">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,2866:127	0|1:67,65:132:99:1841,0,1931:127	0|0:96,0:96:99:0,288,3123:127
1	197886545	.	C	A	3384.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72744982;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72744982" target="_blank">rs72744982</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=409;snpeff.Amino_Acid_Change=c.-409C>A;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=LHX9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX9" target="_blank">LHX9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367387;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367387;SAVANT_GENE=LHX9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX9" target="_blank">LHX9</a>;SAVANT_INFO=+/12.7kb/5/2.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-409C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LHX9+c.-409C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197886545">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,255,2966:127	0|1:86,60:146:99:1711,0,2580:127	0|0:128,0:128:99:0,385,4484:127
1	197890802	.	T	C	3854.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=392;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs13376365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13376365" target="_blank">rs13376365</a>;ExAC.Info.AC=28640;ExAC.Info.AN=124404;ExAC.Info.AF=0.230;ExAC.Info.AC_Het=18295;ExAC.Info.AC_Hom=2927;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.733+13T>C;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=LHX9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX9" target="_blank">LHX9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367387;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367387;SAVANT_GENE=LHX9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHX9" target="_blank">LHX9</a>;SAVANT_INFO=+/12.7kb/5/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.733+13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LHX9+c.733+13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:197890802">View</a>	GT:AD:DP:GQ:PL:TP	0|0:127,0:127:99:0,382,4122:127	0|1:95,68:163:99:1946,0,2672:127	0|0:102,0:102:99:0,307,3464:127
1	198225478	.	G	A	6595.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs72731918;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72731918" target="_blank">rs72731918</a>;ExAC.Info.AC=5671;ExAC.Info.AN=119136;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=5284;ExAC.Info.AC_Hom=175;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.198+3168G>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538004;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199G>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538004;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199G>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538004;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199G>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538004;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199G>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538004;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199G>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538004;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199G>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538004;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199G>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538004;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.199G>A;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538004;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367385;SAVANT_GENE=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;SAVANT_INFO=+/165.5kb/10/4.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.198+3168G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEK7+c.198+3168G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198225478">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,32:71:99:790,0,1019:127	0/1:27,46:73:99:1328,0,717:127	0/1:28,26:54:99:705,0,736:127
1	198288709	.	A	G	11799.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6679100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6679100" target="_blank">rs6679100</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367385;SAVANT_GENE=NEK7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK7" target="_blank">NEK7</a>;SAVANT_INFO=+/165.5kb/10/4.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*57A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEK7+c.*57A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198288709">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1732,138,0:127	1|0:31,35:66:99:1194,0,965:127	1|1:0,58:58:99:2283,174,0:127
1	198668761	.	G	C	2826.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=437;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41269905;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41269905" target="_blank">rs41269905</a>;ExAC.Info.AC=1796;ExAC.Info.AN=126704;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1740;ExAC.Info.AC_Hom=28;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127661;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Cac;snpeff.Amino_Acid_Change=p.Asp123His/c.367G>C;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.361G>C_p.Asp121His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.361G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198668761">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127661" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:150,0:150:99:0,451,5590:127	0|0:164,0:164:99:0,493,6203:127	0|1:75,48:123:99:1432,0,2277:127
1	198676063	.	A	C	5690.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=545;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230606" target="_blank">rs2230606</a>;ExAC.Info.AC=2047;ExAC.Info.AN=126688;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=1983;ExAC.Info.AC_Hom=32;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127662;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Cta;snpeff.Amino_Acid_Change=p.Ile296Leu/c.886A>C;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.880A>C_p.Ile294Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.880A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198676063">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127662" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:188,0:188:99:0,565,6117:127	0|0:185,0:185:99:0,556,6313:127	0|1:80,92:172:99:2864,0,2242:127
1	198677184	.	A	T	2256.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41314041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41314041" target="_blank">rs41314041</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.905-78A>T;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.899-78A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.899-78A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198677184">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1689:127	0|0:73,0:73:99:0,219,2439:127	0|1:42,43:85:99:1147,0,1162:127
1	198677386	.	G	A	8846.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1066;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41314043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41314043" target="_blank">rs41314043</a>;ExAC.Info.AC=1799;ExAC.Info.AN=126658;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1746;ExAC.Info.AC_Hom=24;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127663;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln343Gln/c.1029G>A;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1023G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.1023G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198677386">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127663" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:336,0:336:99:0,1009,11811:127	0|0:355,0:355:99:0,1067,12575:127	0|1:210,165:375:99:4442,0,6354:127
1	198678795	.	C	T	2811.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72738045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72738045" target="_blank">rs72738045</a>;ExAC.Info.AC=1933;ExAC.Info.AN=126130;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1789;ExAC.Info.AC_Hom=24;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1034-21C>T;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1028-21C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.1028-21C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198678795">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,226,2958:127	0|0:115,0:115:99:0,346,4458:127	0|1:49,48:97:99:1425,0,1622:127
1	198678992	.	T	C	5164.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=586;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72738046;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72738046" target="_blank">rs72738046</a>;ExAC.Info.AC=2035;ExAC.Info.AN=126534;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=1963;ExAC.Info.AC_Hom=32;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1171+39T>C;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1165+39T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.1165+39T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198678992">View</a>	GT:AD:DP:GQ:PL:TP	0|0:174,0:174:99:0,522,5693:127	0|0:238,0:238:99:0,715,8257:127	0|1:90,84:174:99:2601,0,2710:127
1	198691595	.	T	A	5144.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1017;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12136658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12136658" target="_blank">rs12136658</a>;ExAC.Info.AC=1749;ExAC.Info.AN=126622;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1693;ExAC.Info.AC_Hom=27;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127664;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caT/caA;snpeff.Amino_Acid_Change=p.His570Gln/c.1710T>A;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1704T>A_p.His568Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.1704T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198691595">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127664" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:349,1:350:99:0,1014,11006:127	0|0:415,0:415:99:0,1247,13675:127	0|1:148,104:252:99:2591,0,3976:127
1	198697591	.	T	A	4012.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=564;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72738067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72738067" target="_blank">rs72738067</a>;ExAC.Info.AC=1750;ExAC.Info.AN=126566;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1685;ExAC.Info.AC_Hom=26;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127665;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1829+14T>A;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1823+14T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.1823+14T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198697591">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127665" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:181,0:181:99:0,544,6154:127	0|0:220,0:220:99:0,661,7642:127	0|1:90,73:163:99:2025,0,2724:127
1	198703306	.	C	T	3368.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=470;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6683595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6683595" target="_blank">rs6683595</a>;ExAC.Info.AC=24035;ExAC.Info.AN=126560;ExAC.Info.AF=0.190;ExAC.Info.AC_Het=18475;ExAC.Info.AC_Hom=2658;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2143-19C>T;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2137-19C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.2137-19C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198703306">View</a>	GT:AD:DP:GQ:PL:TP	0|0:167,0:167:99:0,502,5902:127	0|0:183,0:183:99:0,550,6780:127	0|1:60,60:120:99:1703,0,1764:127
1	198711181	.	AAC	A	305.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs200643519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200643519" target="_blank">rs200643519</a>;ExAC.Info.AC=1027;ExAC.Info.AN=124612;ExAC.Info.AF=8.242e-03;ExAC.Info.AC_Het=868;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2561+27_2561+28delAC;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.2555+28_2555+29delCA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.2555+28_2555+29delCA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198711181">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,999:75	0|0:60,0:60:99:0,180,2495:75	0|1:19,10:29:99:176,0,634:75
1	198717218	.	GT	G	775.31	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=98;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./0;dbSNP139.ID=rs57296163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57296163" target="_blank">rs57296163</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2848-19delT;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2842-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.2842-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198717218">View</a>	GT:AD:DP:GQ:PL	./0:16,1:31:99:139,225,855	./0:20,8:37:21:72,21,659	0/1:6,17:30:24:212,0,238
1	198717218	.	GT	GTT	775.31	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=98;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=0/1;dbSNP139.ID=rs57296163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57296163" target="_blank">rs57296163</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2848-18_2848-17insT;snpeff.Amino_Acid_length=1306;snpeff.Gene_Name=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442510;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000442510;SAVANT_GENE=PTPRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRC" target="_blank">PTPRC</a>;SAVANT_INFO=+/118.2kb/33/5.2kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2842-4dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRC+c.2842-4dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:198717218">View</a>	GT:AD:DP:GQ:PL	0/1:16,14:31:99:139,0,295	0/1:20,9:37:21:72,0,444	./0:6,7:30:24:212,183,408
1	199998304	.	G	A	2764.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs60535681;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60535681" target="_blank">rs60535681</a>;ExAC.Info.AC=534;ExAC.Info.AN=12810;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=446;ExAC.Info.AC_Hom=22;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64+1265G>A;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367362;SAVANT_GENE=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;SAVANT_INFO=+/149.8kb/8/5.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.64+1265G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NR5A2+c.64+1265G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:199998304">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,324,4172:127	0|0:121,0:121:99:0,364,4928:127	0|1:42,45:87:99:1401,0,1481:127
1	200017586	.	C	G	3188.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2821368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2821368" target="_blank">rs2821368</a>;ExAC.Info.AC=23906;ExAC.Info.AN=126704;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=17907;ExAC.Info.AC_Hom=2995;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro250Pro/c.750C>G;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367362;SAVANT_GENE=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;SAVANT_INFO=+/149.8kb/8/5.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.750C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NR5A2+c.750C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200017586">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2945:127	0|0:137,0:137:99:0,412,5034:127	0|1:44,52:96:99:1613,0,1267:127
1	200080463	.	C	T	340.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3828110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3828110" target="_blank">rs3828110</a>;ExAC.Info.AC=35628;ExAC.Info.AN=125648;ExAC.Info.AF=0.284;ExAC.Info.AC_Het=21593;ExAC.Info.AC_Hom=4309;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1230+14C>T;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231C>T;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231C>T;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367362;SAVANT_GENE=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;SAVANT_INFO=+/149.8kb/8/5.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1230+14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NR5A2+c.1230+14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200080463">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,2033:63	0|1:42,9:51:99:127,0,1155:63	0|1:37,9:46:63:63,0,1108:63
1	200080464	.	CA	CAAA	1366.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=114;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1230+17_1230+18insAA;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231_1232insAA;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231_1232insAA;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367362;SAVANT_GENE=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;SAVANT_INFO=+/149.8kb/8/5.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1230+29_1230+30dupAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NR5A2+c.1230+29_1230+30dupAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200080464">View</a>	GT:AD:DP:GQ:PL	./0:18,0:35:99:165,326,2168	./0:25,4:46:99:204,106,1568	0/1:15,8:33:99:242,0,1223
1	200080464	.	CA	C	1366.29	PASS	InheritancePattern=deNovo;AC=1;AF=0.250;AN=4;DP=114;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1230+16delA;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231delA;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231delA;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367362;SAVANT_GENE=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;SAVANT_INFO=+/149.8kb/8/5.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1230+30delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NR5A2+c.1230+30delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200080464">View</a>	GT:AD:DP:GQ:PL	0/1:18,16:35:99:165,0,465	./0:25,8:46:99:204,211,1011	./0:15,8:33:99:242,222,838
1	200080464	.	CA	AA	1366.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=114;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1230+15C>A;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231C>A;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231C>A;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367362;SAVANT_GENE=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;SAVANT_INFO=+/149.8kb/8/5.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1230+15C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NR5A2+c.1230+15C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200080464">View</a>	GT:AD:DP:GQ:PL	./0:18,1:35:99:165,312,2073	0/1:25,9:46:99:204,0,1268	./0:15,2:33:99:242,100,1199
1	200143281	.	C	T	13536.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1060060;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1060060" target="_blank">rs1060060</a>;ExAC.Info.AC=40572;ExAC.Info.AN=126692;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=26873;ExAC.Info.AC_Hom=6795;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn523Asn/c.1569C>T;snpeff.Amino_Acid_length=541;snpeff.Gene_Name=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367362;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367362;SAVANT_GENE=NR5A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR5A2" target="_blank">NR5A2</a>;SAVANT_INFO=+/149.8kb/8/5.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1569C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NR5A2+c.1569C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200143281">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,57:110:99:1538,0,1432:127	1|1:0,131:131:99:4508,394,0:127	0|0:110,0:110:99:0,331,3785:127
1	200182654	.	T	C	6882.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=71;MQ=69.16;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6427805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427805" target="_blank">rs6427805</a>;ExAC.Info.AC=86050;ExAC.Info.AN=99374;ExAC.Info.AF=0.866;ExAC.Info.AC_Het=2310;ExAC.Info.AC_Hom=11392;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427805" target="_blank">rs6427805</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200182654">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1662,114,0:41	1|1:0,21:21:63:922,63,0:41	1|1:0,14:14:42:600,42,0:41
1	200182664	.	C	T	4651.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=77;MQ=68.80;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs6427806;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427806" target="_blank">rs6427806</a>;ExAC.Info.AC=51741;ExAC.Info.AN=106768;ExAC.Info.AF=0.485;ExAC.Info.AC_Het=7208;ExAC.Info.AC_Hom=6172;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.9C>T;snpeff.Gene_Name=FAM58BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424019;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM58BP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200182664">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1309,117,0:116	1|0:5,19:24:99:595,0,146:116	1|0:6,8:14:99:242,0,195:116
1	200182703	.	GGAGGACGCCGGAGAGGAGGCCGGA	G	2745.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=84;MQ=69.04;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs141962771;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141962771" target="_blank">rs141962771</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.49_72delGAGGACGCCGGAGAGGAGGCCGGA;snpeff.Gene_Name=FAM58BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424019;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM58BP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200182703">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,18:39:99:686,0,802:63	1|0:12,12:24:99:441,0,461:63	0|0:21,0:21:63:0,63,944:63
1	200182721	.	G	C	2402.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=74;MQ=68.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61826220;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61826220" target="_blank">rs61826220</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.66G>C;snpeff.Gene_Name=FAM58BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424019;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM58BP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200182721">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,17:35:99:636,0,705:66	0|0:21,0:21:66:0,66,929:66	1|0:10,8:18:99:303,0,438:66
1	200182725	.	G	A	2402.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=76;MQ=69.01;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs76632737;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76632737" target="_blank">rs76632737</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.70G>A;snpeff.Gene_Name=FAM58BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424019;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM58BP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200182725">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,17:35:99:636,0,705:75	0|0:23,0:23:75:0,75,1064:75	1|0:10,8:18:99:303,0,438:75
1	200182732	.	A	G	2393.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=79;MQ=69.11;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs116503230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=116503230" target="_blank">rs116503230</a>;ExAC.Info.AC=10348;ExAC.Info.AN=124156;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=5466;ExAC.Info.AC_Hom=187;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.77A>G;snpeff.Gene_Name=FAM58BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424019;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM58BP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200182732">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,17:38:99:627,0,831:73	0|0:23,0:23:73:0,73,1020:73	1|0:10,8:18:99:306,0,396:73
1	200182733	.	C	T	2959.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=86;MQ=69.10;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs80112494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80112494" target="_blank">rs80112494</a>;ExAC.Info.AC=10659;ExAC.Info.AN=124768;ExAC.Info.AF=0.085;ExAC.Info.AC_Het=5015;ExAC.Info.AC_Hom=229;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.78C>T;snpeff.Gene_Name=FAM58BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424019;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM58BP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200182733">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,21:42:99:793,0,821:72	0|0:23,0:23:72:0,72,1019:72	1|0:10,11:21:99:431,0,388:72
1	200183398	.	C	A	10414.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=171;MQ=69.91;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10919847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10919847" target="_blank">rs10919847</a>;ExAC.Info.AC=64579;ExAC.Info.AN=126704;ExAC.Info.AF=0.510;ExAC.Info.AC_Het=27095;ExAC.Info.AC_Hom=18739;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.743C>A;snpeff.Gene_Name=FAM58BP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424019;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM58BP" target="_blank">FAM58BP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM58BP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200183398">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1774,150,0:127	1|0:38,38:76:99:1057,0,1232:127	1|0:18,27:45:99:814,0,583:127
1	200311868	.	C	G	2890.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2790109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2790109" target="_blank">rs2790109</a>;ExAC.Info.AC=14137;ExAC.Info.AN=20426;ExAC.Info.AF=0.692;ExAC.Info.AC_Het=3264;ExAC.Info.AC_Hom=4134;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1221G>C;snpeff.Gene_Name=LINC00862;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00862" target="_blank">LINC00862</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000367355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367355;SAVANT_GENE=C1orf98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf98" target="_blank">C1orf98</a>;SAVANT_INFO=-/31.3kb/5/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*506G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf98+c.*506G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200311868">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,1964:127	0|1:44,32:76:99:871,0,1259:127	0|1:35,19:54:99:594,0,1083:127
1	200311910	.	T	A	796.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2225986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2225986" target="_blank">rs2225986</a>;ExAC.Info.AC=5673;ExAC.Info.AN=20730;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=2758;ExAC.Info.AC_Hom=741;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1179A>T;snpeff.Gene_Name=LINC00862;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00862" target="_blank">LINC00862</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000367355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367355;SAVANT_GENE=C1orf98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf98" target="_blank">C1orf98</a>;SAVANT_INFO=-/31.3kb/5/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*464A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf98+c.*464A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200311910">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1505:127	0|0:66,0:66:99:0,198,2096:127	0|1:35,17:52:99:417,0,1035:127
1	200376695	.	C	T	38202.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=798;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs35342093;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35342093" target="_blank">rs35342093</a>;ExAC.Info.AC=3361;ExAC.Info.AN=126704;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=3233;ExAC.Info.AC_Hom=63;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr713Thr/c.2139G>A;snpeff.Amino_Acid_length=895;snpeff.Gene_Name=ZNF281;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF281" target="_blank">ZNF281</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367353;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294740;SAVANT_GENE=ZNF281;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF281" target="_blank">ZNF281</a>;SAVANT_INFO=-/3.4kb/2/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.2139G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF281+c.2139G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200376695">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,249:249:99:8527,748,0:127	1|0:155,140:295:99:4159,0,4383:127	1|0:130,124:254:99:3571,0,3825:127
1	200522566	.	G	C	9278.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12120084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12120084" target="_blank">rs12120084</a>;ExAC.Info.AC=40413;ExAC.Info.AN=126684;ExAC.Info.AF=0.319;ExAC.Info.AC_Het=25966;ExAC.Info.AC_Hom=7203;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4897G>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Gca;snpeff.Amino_Acid_Change=p.Pro1633Ala/c.4897C>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367350;SAVANT_GENE=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;SAVANT_INFO=-/69.2kb/30/7.3kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.4897C>G_p.Pro1633Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF14+c.4897C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200522566">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,42:89:99:1261,0,1377:127	0|1:47,46:93:99:1298,0,1421:127	1|1:0,53:53:99:1950,159,0:127
1	200534248	.	C	T	26168.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=580;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7543730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7543730" target="_blank">rs7543730</a>;ExAC.Info.AC=72360;ExAC.Info.AN=126702;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=30366;ExAC.Info.AC_Hom=20978;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4020C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu1340Glu/c.4020G>A;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367350;SAVANT_GENE=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;SAVANT_INFO=-/69.2kb/30/7.3kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.4020G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF14+c.4020G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200534248">View</a>	GT:AD:DP:GQ:PL:TP	1|0:85,93:178:99:2381,0,2521:127	0|1:108,91:199:99:2634,0,3179:127	1|1:0,203:203:99:6681,610,0:127
1	200558363	.	T	C	10885.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs6665951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665951" target="_blank">rs6665951</a>;ExAC.Info.AC=95190;ExAC.Info.AN=126690;ExAC.Info.AF=0.751;ExAC.Info.AC_Het=22825;ExAC.Info.AC_Hom=36123;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_CIT-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3096T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu1032Glu/c.3096A>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367350;SAVANT_GENE=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;SAVANT_INFO=-/69.2kb/30/7.3kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.3096A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF14+c.3096A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200558363">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,38:78:99:1057,0,1053:127	0|1:65,41:106:99:1187,0,1880:127	1|1:0,74:74:99:2638,222,0:127
1	200574959	.	T	C	2527.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2808238;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2808238" target="_blank">rs2808238</a>;ExAC.Info.AC=40601;ExAC.Info.AN=126528;ExAC.Info.AF=0.321;ExAC.Info.AC_Het=26819;ExAC.Info.AC_Hom=6772;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1638+33A>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1639T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367350;SAVANT_GENE=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;SAVANT_INFO=-/69.2kb/30/7.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1638+33A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF14+c.1638+33A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200574959">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,24:42:99:661,0,560:114	1|0:20,19:39:99:605,0,599:114	0|0:38,0:38:99:0,114,1369:114
1	200575794	.	A	G	6987.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2794410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794410" target="_blank">rs2794410</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1607+80T>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608A>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608A>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608A>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608A>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608A>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608A>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608A>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608A>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608A>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367350;SAVANT_GENE=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;SAVANT_INFO=-/69.2kb/30/7.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1607+80T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF14+c.1607+80T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200575794">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,42:65:99:1410,0,615:127	1|0:59,44:103:99:1454,0,1801:127	0|0:113,0:113:99:0,340,3970:127
1	200578093	.	G	A	14128.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2794409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794409" target="_blank">rs2794409</a>;ExAC.Info.AC=117262;ExAC.Info.AN=126090;ExAC.Info.AF=0.930;ExAC.Info.AC_Het=6992;ExAC.Info.AC_Hom=49158;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1456-37C>T;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456G>A;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456G>A;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456G>A;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456G>A;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456G>A;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456G>A;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456G>A;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456G>A;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456G>A;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367350;SAVANT_GENE=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;SAVANT_INFO=-/69.2kb/30/7.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1456-37C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF14+c.1456-37C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200578093">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2138,201,0:127	1|1:0,76:76:99:2609,228,0:127	1|1:0,58:58:99:1944,174,0:127
1	200583380	.	T	G	2957.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2808241;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2808241" target="_blank">rs2808241</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1455+66A>C;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456T>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456T>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456T>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456T>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456T>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456T>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456T>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456T>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456T>G;snpeff.Amino_Acid_length=1648;snpeff.Gene_Name=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367350;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367350;SAVANT_GENE=KIF14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF14" target="_blank">KIF14</a>;SAVANT_INFO=-/69.2kb/30/7.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1455+66A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF14+c.1455+66A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200583380">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,20:41:99:533,0,706:127	1|0:29,20:49:99:607,0,888:127	0|0:56,0:56:99:0,168,1881:127
1	200610205	.	G	A	1162.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72745089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72745089" target="_blank">rs72745089</a>;ExAC.Info.AC=16;ExAC.Info.AN=29256;ExAC.Info.AF=5.469e-04;ExAC.Info.AC_Het=14;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DDX59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX59" target="_blank">DDX59</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX59" target="_blank">DDX59</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX59+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200610205">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2104:127	0|1:36,21:57:99:600,0,1017:127	0|0:55,0:55:99:0,165,1950:127
1	200618238	.	T	C	14588.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6665604;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665604" target="_blank">rs6665604</a>;ExAC.Info.AC=122343;ExAC.Info.AN=126700;ExAC.Info.AF=0.966;ExAC.Info.AC_Het=4128;ExAC.Info.AC_Hom=59083;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1431T>C;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=DDX59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX59" target="_blank">DDX59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331314;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1431T>C;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=DDX59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX59" target="_blank">DDX59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331314;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1431T>C;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=DDX59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX59" target="_blank">DDX59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331314;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1431T>C;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=DDX59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX59" target="_blank">DDX59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331314;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser477Ser/c.1431A>G;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=DDX59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX59" target="_blank">DDX59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331314;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331314;SAVANT_GENE=DDX59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX59" target="_blank">DDX59</a>;SAVANT_INFO=-/25.9kb/8/2.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1431A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX59+c.1431A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200618238">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1960,168,0:127	1|1:0,68:68:99:2257,204,0:127	1|1:0,64:64:99:2166,192,0:127
1	200776641	.	C	T	11712.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1016;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7552353;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7552353" target="_blank">rs7552353</a>;ExAC.Info.AC=21993;ExAC.Info.AN=126694;ExAC.Info.AF=0.174;ExAC.Info.AC_Het=16648;ExAC.Info.AC_Hom=2665;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp179Asp/c.537C>T;snpeff.Amino_Acid_length=1489;snpeff.Gene_Name=CAMSAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMSAP2" target="_blank">CAMSAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236925;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358823;SAVANT_GENE=CAMSAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMSAP2" target="_blank">CAMSAP2</a>;SAVANT_INFO=+/121.1kb/17/7.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.537C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMSAP2+c.537C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200776641">View</a>	GT:AD:DP:GQ:PL:TP	0|0:271,0:271:99:0,814,8996:127	0|1:192,206:398:99:5875,0,5295:127	0|0:347,0:347:99:0,1043,11975:127
1	200842341	.	T	C	4730.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs138176594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138176594" target="_blank">rs138176594</a>;ExAC.Info.AC=817;ExAC.Info.AN=125328;ExAC.Info.AF=6.519e-03;ExAC.Info.AC_Het=735;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176T>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=GPR25;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR25" target="_blank">GPR25</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304244;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tCt;snpeff.Amino_Acid_Change=p.Phe59Ser/c.176T>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=GPR25;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR25" target="_blank">GPR25</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304244;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304244;SAVANT_GENE=GPR25;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR25" target="_blank">GPR25</a>;SAVANT_INFO=+/1.2kb/1/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.176T>C_p.Phe59Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR25+c.176T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200842341">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,32:53:99:1004,0,580:127	0|0:80,0:80:99:0,240,2726:127	1|0:20,24:44:99:721,0,598:127
1	200867492	.	C	G	1870.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2271018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271018" target="_blank">rs2271018</a>;ExAC.Info.AC=29422;ExAC.Info.AN=126704;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=22141;ExAC.Info.AC_Hom=3649;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro73Pro/c.219C>G;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=C1orf106;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf106" target="_blank">C1orf106</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367342;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367342;SAVANT_GENE=C1orf106;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf106" target="_blank">C1orf106</a>;SAVANT_INFO=+/24.4kb/10/4.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.219C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf106+c.219C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200867492">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,16:29:99:461,0,347:108	0|0:36,0:36:99:0,108,1320:108	1|0:9,10:19:99:299,0,245:108
1	200877850	.	T	G	6104.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs41299637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41299637" target="_blank">rs41299637</a>;ExAC.Info.AC=25381;ExAC.Info.AN=126566;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=18555;ExAC.Info.AC_Hom=3015;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.830-8T>G;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=C1orf106;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf106" target="_blank">C1orf106</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367342;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.830T>G;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=C1orf106;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf106" target="_blank">C1orf106</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367342;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367342;SAVANT_GENE=C1orf106;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf106" target="_blank">C1orf106</a>;SAVANT_INFO=+/24.4kb/10/4.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.830-8T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf106+c.830-8T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200877850">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,29:57:99:753,0,855:127	0/1:49,40:89:99:1033,0,1389:127	0/1:24,34:58:99:859,0,708:127
1	200880978	.	C	T	494.69	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=15;MQ=61.89;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs296520;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=296520" target="_blank">rs296520</a>;ExAC.Info.AC=90219;ExAC.Info.AN=120136;ExAC.Info.AF=0.751;ExAC.Info.AC_Het=16488;ExAC.Info.AC_Hom=27061;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg538Cys/c.1612C>T;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=C1orf106;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf106" target="_blank">C1orf106</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367342;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367342;SAVANT_GENE=C1orf106;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf106" target="_blank">C1orf106</a>;SAVANT_INFO=+/24.4kb/10/4.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1612C>T_p.Arg538Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf106+c.1612C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200880978">View</a>	GT:AD:DP:GQ:PL:TP	0|0:1,0:1:3:0,3,29:4	0|1:3,2:5:66:66,0,97:4	0|1:3,6:9:85:163,0,85:4
1	200881172	.	C	A	2537.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=113;MQ=59.70;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs296521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=296521" target="_blank">rs296521</a>;ExAC.Info.AC=10397;ExAC.Info.AN=39904;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=3402;ExAC.Info.AC_Hom=1424;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgA;snpeff.Amino_Acid_Change=p.Arg602Arg/c.1806C>A;snpeff.Amino_Acid_length=663;snpeff.Gene_Name=C1orf106;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf106" target="_blank">C1orf106</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367342;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367342;SAVANT_GENE=C1orf106;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf106" target="_blank">C1orf106</a>;SAVANT_INFO=+/24.4kb/10/4.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1806C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf106+c.1806C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200881172">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,20:40:99:523,0,549:110	0|0:37,0:37:99:0,111,1384:110	1|0:20,16:36:99:473,0,674:110
1	200956288	.	A	G	2806.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2275485;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275485" target="_blank">rs2275485</a>;ExAC.Info.AC=25688;ExAC.Info.AN=126698;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=19467;ExAC.Info.AC_Hom=3051;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala1150Ala/c.3450T>C;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332129;SAVANT_GENE=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;SAVANT_INFO=-/54.3kb/34/9.9kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.3450T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF21B+c.3450T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200956288">View</a>	GT:AD:DP:GQ:PL:TP	0|0:129,0:129:99:0,388,4332:127	0|1:66,55:121:99:1422,0,1980:127	0|0:111,0:111:99:0,334,3998:127
1	200959052	.	T	G	1510.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs57758014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57758014" target="_blank">rs57758014</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3132+18A>C;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332129;SAVANT_GENE=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;SAVANT_INFO=-/54.3kb/34/9.9kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.3132+18A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF21B+c.3132+18A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200959052">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2673:127	0|1:39,30:69:99:774,0,1147:127	0|0:76,0:76:99:0,228,2450:127
1	200959302	.	G	A	2786.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2297911;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297911" target="_blank">rs2297911</a>;ExAC.Info.AC=25786;ExAC.Info.AN=126698;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=19558;ExAC.Info.AC_Hom=3089;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2994G>A;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2994G>A;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2994G>A;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp998Asp/c.2994C>T;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332129;SAVANT_GENE=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;SAVANT_INFO=-/54.3kb/34/9.9kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2994C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF21B+c.2994C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200959302">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2547:127	0|1:50,53:103:99:1412,0,1438:127	0|0:88,0:88:99:0,264,3111:127
1	200960886	.	C	T	838.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12123633;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12123633" target="_blank">rs12123633</a>;ExAC.Info.AC=25531;ExAC.Info.AN=126634;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=18681;ExAC.Info.AC_Hom=2807;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2386-33G>A;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386C>T;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386C>T;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386C>T;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386C>T;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386C>T;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332129;SAVANT_GENE=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;SAVANT_INFO=-/54.3kb/34/9.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2386-33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF21B+c.2386-33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200960886">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,994:79	0|1:23,16:39:99:438,0,739:79	0|0:28,0:28:84:0,84,1107:79
1	200960898	.	A	T	864.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12145860;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12145860" target="_blank">rs12145860</a>;ExAC.Info.AC=24988;ExAC.Info.AN=126512;ExAC.Info.AF=0.198;ExAC.Info.AC_Het=17342;ExAC.Info.AC_Hom=2477;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2386-45T>A;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386A>T;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386A>T;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386A>T;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386A>T;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386A>T;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332129;SAVANT_GENE=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;SAVANT_INFO=-/54.3kb/34/9.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2386-45T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF21B+c.2386-45T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200960898">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,908:80	0|1:21,16:37:99:451,0,572:80	0|0:32,0:32:96:0,96,1149:80
1	200960915	.	T	C	660.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12142447;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12142447" target="_blank">rs12142447</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2386-62A>G;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386T>C;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386T>C;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386T>C;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386T>C;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2386T>C;snpeff.Amino_Acid_length=1637;snpeff.Gene_Name=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422435;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332129;SAVANT_GENE=KIF21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21B" target="_blank">KIF21B</a>;SAVANT_INFO=-/54.3kb/34/9.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2386-62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF21B+c.2386-62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:200960915">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,574:56	0|1:17,12:29:99:349,0,470:56	0|0:24,0:24:72:0,72,805:56
1	201009011	.	C	T	3700.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72749169;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72749169" target="_blank">rs72749169</a>;ExAC.Info.AC=242;ExAC.Info.AN=126702;ExAC.Info.AF=1.910e-03;ExAC.Info.AC_Het=240;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.211-1972C>T;snpeff.Gene_Name=RP11-168O16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415359;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5570C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5570C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5570C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5570C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5570C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5570C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5570C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5570C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5570C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5570C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5570C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser1857Asn/c.5570G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O162" target="_blank">RP11-168O162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=Ex44;SAVANT_HGVS=c.5570G>A_p.Ser1857Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.5570G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201009011">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,274,3538:127	0|1:45,58:103:99:1869,0,1480:127	0|0:68,0:68:99:0,205,2685:127
1	201009556	.	A	G	9926.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs1546416;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1546416" target="_blank">rs1546416</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5227-54T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.211-1427A>G;snpeff.Gene_Name=RP11-168O16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415359;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5227A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5227A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5227A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5227A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5227A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5227A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5227A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5227A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5227A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5227A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5227A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=In42/43;SAVANT_HGVS=c.5227-54T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.5227-54T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201009556">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,65:99:99:1848,0,860:127	0/1:32,47:79:99:1565,0,831:127	0/1:45,38:83:99:1159,0,1294:127
1	201009897	.	T	C	19473.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs6427875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6427875" target="_blank">rs6427875</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5135-56A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.211-1086T>C;snpeff.Gene_Name=RP11-168O16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415359;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5135T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5135T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5135T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5135T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5135T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5135T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5135T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5135T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5135T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5135T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5135T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.5135-56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.5135-56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201009897">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2686,249,0:127	1|1:0,74:74:99:2604,222,0:127	1|1:0,85:85:99:2910,255,0:127
1	201012597	.	G	A	4758.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=509;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs41267497;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41267497" target="_blank">rs41267497</a>;ExAC.Info.AC=13524;ExAC.Info.AN=126702;ExAC.Info.AF=0.107;ExAC.Info.AC_Het=11515;ExAC.Info.AC_Hom=999;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4860G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4860G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4860G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4860G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4860G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4860G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4860G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4860G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4860G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4860G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4860G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro1620Pro/c.4860C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=Ex40;SAVANT_HGVS=c.4860C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.4860C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201012597">View</a>	GT:AD:DP:GQ:PL:TP	0|0:177,0:177:99:0,532,6078:127	0|0:166,0:166:99:0,499,6057:127	0|1:87,79:166:99:2398,0,2499:127
1	201020105	.	A	G	12870.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs6702590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702590" target="_blank">rs6702590</a>;ExAC.Info.AC=97604;ExAC.Info.AN=126704;ExAC.Info.AF=0.770;ExAC.Info.AC_Het=20433;ExAC.Info.AC_Hom=38583;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4113+7T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phenylalkylamine_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Phenylalkylamine_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Dihydropyridine_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Dihydropyridine_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4114T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.4113+7T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.4113+7T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201020105">View</a>	GT:AD:DP:GQ:PL:TP	0/1:66,42:108:99:1049,0,1919:127	0/1:72,81:153:99:2395,0,2311:127	0/1:39,67:106:99:1943,0,1195:127
1	201038687	.	A	G	29022.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=598;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs7415038;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7415038" target="_blank">rs7415038</a>;ExAC.Info.AC=35310;ExAC.Info.AN=116372;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=11093;ExAC.Info.AC_Hom=3945;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2403A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2403A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2403A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2403A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2403A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2403A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2403A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2403A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2403A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2403A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe801Phe/c.2403T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2403T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.2403T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201038687">View</a>	GT:AD:DP:GQ:PL:TP	0|1:94,100:194:99:2723,0,2355:127	1|1:1,223:224:99:7907,637,0:127	0|1:98,82:180:99:2376,0,2811:127
1	201043845	.	ACT	A	15662.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs66932448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66932448" target="_blank">rs66932448</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1949-99_1949-98delAG;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949_1950delCT;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949_1950delCT;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949_1950delCT;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949_1950delCT;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949_1950delCT;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949_1950delCT;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949_1950delCT;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1949-99_1949-98delAG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.1949-99_1949-98delAG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201043845">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,37:77:99:1397,0,1521:127	1|1:1,91:92:99:3987,233,0:127	0|1:53,45:98:99:1702,0,2010:127
1	201044748	.	A	G	26815.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=522;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs1998721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1998721" target="_blank">rs1998721</a>;ExAC.Info.AC=99051;ExAC.Info.AN=126700;ExAC.Info.AF=0.782;ExAC.Info.AC_Het=20482;ExAC.Info.AC_Hom=39280;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1828-5T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1828-5T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.1828-5T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201044748">View</a>	GT:AD:DP:GQ:PL:TP	0|1:84,73:157:99:2278,0,2255:127	1|1:0,206:206:99:7605,619,0:127	0|1:90,69:159:99:2050,0,2605:127
1	201047062	.	G	A	8858.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=321;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs4915476;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4915476" target="_blank">rs4915476</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hypokalaemic_periodic_paralysis|_association_with;hgmd_2014.2.OMIM_ID=114208;hgmd_2014.2.PubMed=11940049;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11940049" target="_blank">11940049</a>;ExAC.Info.AC=26214;ExAC.Info.AN=126698;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=20041;ExAC.Info.AC_Hom=3076;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu522Leu/c.1564C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1564C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.1564C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201047062">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,49:91:99:1253,0,1309:127	0|0:129,0:129:99:0,387,4842:127	1|0:44,57:101:99:1704,0,1306:127
1	201047075	.	A	G	32759.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs4915477;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4915477" target="_blank">rs4915477</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hypokalaemic_periodic_paralysis|_association_with;hgmd_2014.2.OMIM_ID=114208;hgmd_2014.2.PubMed=11940049;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11940049" target="_blank">11940049</a>;ExAC.Info.AC=73806;ExAC.Info.AN=126704;ExAC.Info.AF=0.583;ExAC.Info.AC_Het=26718;ExAC.Info.AC_Hom=23504;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly517Gly/c.1551T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1551T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.1551T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201047075">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:3550,261,0:127	1|1:0,135:135:99:4752,405,0:127	1|1:0,103:103:99:4137,316,0:127
1	201047111	.	A	G	19671.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs9427714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9427714" target="_blank">rs9427714</a>;ExAC.Info.AC=30963;ExAC.Info.AN=126704;ExAC.Info.AF=0.244;ExAC.Info.AC_Het=21200;ExAC.Info.AC_Hom=4873;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys505Cys/c.1515T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1515T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.1515T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201047111">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,50:102:99:1583,0,1349:127	1|1:0,145:145:99:5367,436,0:127	0|1:57,55:112:99:1702,0,1641:127
1	201052199	.	T	C	5901.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs3767511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3767511" target="_blank">rs3767511</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1393+91A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1394T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1393+91A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.1393+91A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201052199">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,43:94:99:1204,0,1545:127	0|0:118,0:118:99:0,355,4197:127	1|0:37,44:81:99:1342,0,1109:127
1	201052310	.	A	T	25112.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12742169;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12742169" target="_blank">rs12742169</a>;ExAC.Info.AC=30749;ExAC.Info.AN=126702;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=21307;ExAC.Info.AC_Hom=4659;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1373A>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1373A>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1373A>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1373A>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1373A>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1373A>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1373A>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTc/cAc;snpeff.Amino_Acid_Change=p.Leu458His/c.1373T>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1373T>A_p.Leu458His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.1373T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201052310">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,72:135:99:2868,0,2415:127	1|1:0,142:142:99:6371,430,0:127	0|1:62,51:113:99:1929,0,2472:127
1	201052312	.	A	C	25185.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs12742170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12742170" target="_blank">rs12742170</a>;ExAC.Info.AC=30748;ExAC.Info.AN=126702;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=21305;ExAC.Info.AC_Hom=4657;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1371A>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1371A>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1371A>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1371A>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1371A>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1371A>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1371A>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccG;snpeff.Amino_Acid_Change=p.Pro457Pro/c.1371T>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1371T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.1371T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201052312">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,72:135:99:2868,0,2415:127	1|1:0,141:141:99:6395,433,0:127	0|1:63,50:113:99:1929,0,2472:127
1	201052474	.	T	C	9751.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs12724643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12724643" target="_blank">rs12724643</a>;ExAC.Info.AC=30876;ExAC.Info.AN=126702;ExAC.Info.AF=0.244;ExAC.Info.AC_Het=21204;ExAC.Info.AC_Hom=4833;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1233-24A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1233T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1233T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1233T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1233T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1233-24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.1233-24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201052474">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,38:68:99:1145,0,820:127	1|1:0,65:65:99:2509,195,0:127	0|1:23,27:50:99:856,0,679:127
1	201058692	.	T	C	19077.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs2296384;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296384" target="_blank">rs2296384</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.695-101A>G;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.695-101A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.695-101A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201058692">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,64:123:99:1948,0,1660:127	1|1:0,133:133:99:4926,399,0:127	0|1:61,56:117:99:1707,0,1795:127
1	201060865	.	G	A	15623.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=457;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Hypokalemic_periodic_paralysis|_type_1|_170400_(3)|_{Malignant_hyperthermia_susceptibility_5}|_601887_(3)|_{Thyrotoxic_periodic_paralysis|_susceptibility_to|_1}|_188580_(3);dbSNP139.ID=rs2296383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296383" target="_blank">rs2296383</a>;ExAC.Info.AC=49035;ExAC.Info.AN=126704;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=28767;ExAC.Info.AC_Hom=10103;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.597G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.597G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.597G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.597G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.597G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.597G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.597G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.597G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:I];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.597G>A;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile199Ile/c.597C>T;snpeff.Amino_Acid_length=1873;snpeff.Gene_Name=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362061;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362061;SAVANT_GENE=CACNA1S;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1S" target="_blank">CACNA1S</a>;SAVANT_INFO=-/73.1kb/44/6.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.597C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNA1S+c.597C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201060865">View</a>	GT:AD:DP:GQ:PL:TP	0|1:102,55:157:99:1331,0,2918:127	1|1:0,151:151:99:5105,453,0:127	0|0:149,0:149:99:0,447,5138:127
1	201112981	.	A	G	4499.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs8158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8158" target="_blank">rs8158</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=94725;ExAC.Info.AN=126698;ExAC.Info.AF=0.748;ExAC.Info.AC_Het=23673;ExAC.Info.AC_Hom=35481;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr125Tyr/c.375T>C;snpeff.Amino_Acid_length=186;snpeff.Gene_Name=TMEM9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM9" target="_blank">TMEM9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367332;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367330;SAVANT_GENE=TMEM9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM9" target="_blank">TMEM9</a>;SAVANT_INFO=-/19.7kb/5/2.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.366T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM9+c.366T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201112981">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,17:45:99:523,0,750:127	0/1:30,24:54:99:675,0,798:127	0/1:24,18:42:99:579,0,731:127
1	201113118	.	A	G	9025.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3738266;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738266" target="_blank">rs3738266</a>;ExAC.Info.AC=119148;ExAC.Info.AN=126652;ExAC.Info.AF=0.941;ExAC.Info.AC_Het=6721;ExAC.Info.AC_Hom=54688;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.277-39T>C;snpeff.Amino_Acid_length=186;snpeff.Gene_Name=TMEM9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM9" target="_blank">TMEM9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367332;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367330;SAVANT_GENE=TMEM9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM9" target="_blank">TMEM9</a>;SAVANT_INFO=-/19.7kb/5/2.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.268-39T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM9+c.268-39T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201113118">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1051,87,0:80	1|1:0,41:41:99:1549,123,0:80	1|1:0,27:27:81:1000,81,0:80
1	201122947	.	T	G	25418.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1925361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1925361" target="_blank">rs1925361</a>;ExAC.Info.AC=119152;ExAC.Info.AN=126642;ExAC.Info.AF=0.941;ExAC.Info.AC_Het=6583;ExAC.Info.AC_Hom=54685;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.75+30A>C;snpeff.Amino_Acid_length=186;snpeff.Gene_Name=TMEM9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM9" target="_blank">TMEM9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367332;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367330;SAVANT_GENE=TMEM9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM9" target="_blank">TMEM9</a>;SAVANT_INFO=-/19.7kb/5/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.66+39A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM9+c.66+39A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201122947">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3411,285,0:127	1|1:0,99:99:99:3560,298,0:127	1|1:0,98:98:99:3356,294,0:127
1	201162411	.	G	A	1586.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12089471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12089471" target="_blank">rs12089471</a>;ExAC.Info.AC=6602;ExAC.Info.AN=29066;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=4218;ExAC.Info.AC_Hom=900;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=11;snpeff.Amino_Acid_Change=c.-11G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-11G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.-11G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201162411">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1220:92	0|1:21,29:50:99:812,0,596:92	0|0:31,0:31:93:0,93,1187:92
1	201166281	.	C	T	13056.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7533096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7533096" target="_blank">rs7533096</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.268-65C>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268C>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268C>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268C>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.268-65C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.268-65C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201166281">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2529,213,0:127	1|0:50,40:90:99:1110,0,1476:127	1|1:0,56:56:99:2058,168,0:127
1	201166383	.	G	A	18949.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4915221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4915221" target="_blank">rs4915221</a>;ExAC.Info.AC=17602;ExAC.Info.AN=27842;ExAC.Info.AF=0.632;ExAC.Info.AC_Het=5205;ExAC.Info.AC_Hom=5466;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg102His/c.305G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.305G>A_p.Arg102His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.305G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201166383">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2682,234,0:127	1|0:66,64:130:99:1676,0,1833:127	1|1:0,86:86:99:2933,258,0:127
1	201166435	.	T	C	20362.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11589317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11589317" target="_blank">rs11589317</a>;ExAC.Info.AC=24540;ExAC.Info.AN=27530;ExAC.Info.AF=0.891;ExAC.Info.AC_Het=2210;ExAC.Info.AC_Hom=9774;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr119Thr/c.357T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.357T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.357T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201166435">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2363,212,0:127	1|1:0,92:92:99:3251,276,0:127	1|1:0,73:73:99:2463,219,0:127
1	201170824	.	C	G	17153.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10158976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10158976" target="_blank">rs10158976</a>;ExAC.Info.AC=25815;ExAC.Info.AN=27658;ExAC.Info.AF=0.933;ExAC.Info.AC_Het=1458;ExAC.Info.AC_Hom=11297;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.634-23C>G;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.634C>G;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.634C>G;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.634-23C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.634-23C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201170824">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2067,174,0:127	1|1:0,80:80:99:2734,240,0:127	1|1:0,54:54:99:2112,162,0:127
1	201175227	.	C	A	7622.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs832156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=832156" target="_blank">rs832156</a>;ExAC.Info.AC=19179;ExAC.Info.AN=26924;ExAC.Info.AF=0.712;ExAC.Info.AC_Het=4326;ExAC.Info.AC_Hom=6317;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaA;snpeff.Amino_Acid_Change=p.Asp402Glu/c.1206C>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1206C>A_p.Asp402Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.1206C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201175227">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,37:72:99:919,0,1106:127	0|0:84,0:84:99:0,252,2890:127	1|1:0,70:70:99:2217,210,0:127
1	201175274	.	A	G	9668.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9651057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9651057" target="_blank">rs9651057</a>;ExAC.Info.AC=10648;ExAC.Info.AN=28268;ExAC.Info.AF=0.377;ExAC.Info.AC_Het=5331;ExAC.Info.AC_Hom=2039;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln418Arg/c.1253A>G;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1253A>G_p.Gln418Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.1253A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201175274">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,47:79:99:1255,0,947:127	1|1:0,84:84:99:2912,252,0:127	0|0:69,0:69:99:0,207,2450:127
1	201175715	.	G	T	9029.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1341631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1341631" target="_blank">rs1341631</a>;ExAC.Info.AC=21917;ExAC.Info.AN=33140;ExAC.Info.AF=0.661;ExAC.Info.AC_Het=4067;ExAC.Info.AC_Hom=6075;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cTg;snpeff.Amino_Acid_Change=p.Arg565Leu/c.1694G>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1694G>T_p.Arg565Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.1694G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201175715">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,37:71:99:1113,0,964:127	0|0:81,0:81:99:0,243,2899:127	1|1:0,64:64:99:2348,192,0:127
1	201176018	.	A	G	4545.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10753895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10753895" target="_blank">rs10753895</a>;ExAC.Info.AC=19019;ExAC.Info.AN=26500;ExAC.Info.AF=0.718;ExAC.Info.AC_Het=3698;ExAC.Info.AC_Hom=5520;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp666Gly/c.1997A>G;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1997A>G_p.Asp666Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.1997A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201176018">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,14:23:99:470,0,199:92	0|0:31,0:31:93:0,93,1143:92	1|1:0,39:39:99:1506,117,0:92
1	201176108	.	G	A	5208.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12094334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12094334" target="_blank">rs12094334</a>;ExAC.Info.AC=7221;ExAC.Info.AN=25414;ExAC.Info.AF=0.284;ExAC.Info.AC_Het=4263;ExAC.Info.AC_Hom=1103;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGt/gAt;snpeff.Amino_Acid_Change=p.Gly696Asp/c.2087G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2087G>A_p.Gly696Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.2087G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201176108">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,13:30:99:383,0,561:127	0|0:47,0:47:99:0,141,1655:127	1|1:0,51:51:99:1642,153,0:127
1	201176968	.	A	G	6801.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12063867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12063867" target="_blank">rs12063867</a>;ExAC.Info.AC=7051;ExAC.Info.AN=24056;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=4284;ExAC.Info.AC_Hom=1112;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met983Val/c.2947A>G;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2947A>G_p.Met983Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.2947A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201176968">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,34:60:99:1039,0,697:127	0|0:89,0:89:99:0,267,3050:127	1|1:0,55:55:99:2000,165,0:127
1	201177246	.	T	C	13881.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs72751165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72751165" target="_blank">rs72751165</a>;ExAC.Info.AC=7206;ExAC.Info.AN=24390;ExAC.Info.AF=0.295;ExAC.Info.AC_Het=4325;ExAC.Info.AC_Hom=1138;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly1075Gly/c.3225T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.3225T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.3225T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201177246">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,54:106:99:1616,0,1397:127	0|0:128,1:129:99:0,345,4431:127	1|1:1,115:116:99:4282,310,0:127
1	201177278	.	C	T	14938.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7551098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7551098" target="_blank">rs7551098</a>;ExAC.Info.AC=7334;ExAC.Info.AN=24624;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=4346;ExAC.Info.AC_Hom=1151;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala1086Val/c.3257C>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.3257C>T_p.Ala1086Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.3257C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201177278">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,66:131:99:1721,0,1820:127	0|0:150,2:152:99:0,388,5226:127	1|1:0,138:138:99:4647,414,0:127
1	201177538	.	G	T	10987.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7551538;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7551538" target="_blank">rs7551538</a>;ExAC.Info.AC=4739;ExAC.Info.AN=21170;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=1655;ExAC.Info.AC_Hom=374;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Tct;snpeff.Amino_Acid_Change=p.Ala1173Ser/c.3517G>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.3517G>T_p.Ala1173Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.3517G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201177538">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,45:83:99:1324,0,1164:127	0|0:108,0:108:99:0,324,4127:127	1|1:0,100:100:99:3478,301,0:127
1	201178470	.	G	A	13239.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs12757706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12757706" target="_blank">rs12757706</a>;ExAC.Info.AC=6054;ExAC.Info.AN=22428;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=2537;ExAC.Info.AC_Hom=645;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg1483Arg/c.4449G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.4449G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.4449G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201178470">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,47:104:99:1207,0,1703:127	0|0:125,0:125:99:0,376,4351:127	1|1:0,124:124:99:4281,372,0:127
1	201181217	.	A	G	15939.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=406;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12070918;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12070918" target="_blank">rs12070918</a>;ExAC.Info.AC=8437;ExAC.Info.AN=29154;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=4278;ExAC.Info.AC_Hom=1159;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp2399Gly/c.7196A>G;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.7196A>G_p.Asp2399Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.7196A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201181217">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,59:118:99:1681,0,1597:127	0|0:151,0:151:99:0,453,5039:127	1|1:0,137:137:99:4947,410,0:127
1	201181223	.	A	G	40640.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12070919;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12070919" target="_blank">rs12070919</a>;ExAC.Info.AC=25249;ExAC.Info.AN=25380;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=58;ExAC.Info.AC_Hom=9736;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn2401Ser/c.7202A>G;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.7202A>G_p.Asn2401Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.7202A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201181223">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:4860,361,0:127	1|1:0,150:150:99:5262,450,0:127	1|1:0,130:130:99:5921,403,0:127
1	201181920	.	G	T	8787.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12060924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12060924" target="_blank">rs12060924</a>;ExAC.Info.AC=8278;ExAC.Info.AN=27894;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=4952;ExAC.Info.AC_Hom=1258;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggT;snpeff.Amino_Acid_Change=p.Gly2633Gly/c.7899G>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.7899G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.7899G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201181920">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,42:80:99:1073,0,1081:127	0|0:102,0:102:99:0,307,3801:127	1|1:1,74:75:99:2512,215,0:127
1	201183363	.	C	T	7038.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2282415;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282415" target="_blank">rs2282415</a>;ExAC.Info.AC=41731;ExAC.Info.AN=126672;ExAC.Info.AF=0.329;ExAC.Info.AC_Het=27852;ExAC.Info.AC_Hom=6772;snpeff.Effect=sequence_feature[domain:Ig-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8787C>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8787C>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala2929Ala/c.8787C>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.8787C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.8787C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201183363">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,39:78:99:1132,0,1014:127	0|0:75,0:75:99:0,225,2540:127	1|1:0,49:49:99:1722,147,0:127
1	201183402	.	T	C	8657.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1568810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1568810" target="_blank">rs1568810</a>;ExAC.Info.AC=41711;ExAC.Info.AN=126692;ExAC.Info.AF=0.329;ExAC.Info.AC_Het=27765;ExAC.Info.AC_Hom=6860;snpeff.Effect=sequence_feature[domain:Ig-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8826T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8826T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro2942Pro/c.8826T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.8826T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.8826T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201183402">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,44:93:99:1136,0,1315:127	0|0:94,0:94:99:0,282,3435:127	1|1:0,65:65:99:2289,195,0:127
1	201184097	.	G	A	5363.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4915496;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4915496" target="_blank">rs4915496</a>;ExAC.Info.AC=32522;ExAC.Info.AN=126636;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=22770;ExAC.Info.AC_Hom=3968;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8854-44G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8854G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8854G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.8854-44G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.8854-44G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201184097">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,21:39:99:529,0,516:107	1|1:0,53:53:99:1687,159,0:107	0|0:36,0:36:99:0,108,1278:107
1	201187764	.	T	C	19209.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10920144;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10920144" target="_blank">rs10920144</a>;ExAC.Info.AC=113076;ExAC.Info.AN=126696;ExAC.Info.AF=0.892;ExAC.Info.AC_Het=11663;ExAC.Info.AC_Hom=50184;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9876T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9876T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9876T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala3292Ala/c.9876T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.9876T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.9876T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201187764">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2493,228,0:127	1|1:0,71:71:99:2440,213,0:127	1|1:0,85:85:99:2956,255,0:127
1	201187828	.	T	C	18303.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3738268;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738268" target="_blank">rs3738268</a>;ExAC.Info.AC=112341;ExAC.Info.AN=126372;ExAC.Info.AF=0.889;ExAC.Info.AC_Het=10954;ExAC.Info.AC_Hom=46825;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9898+42T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9899T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9899T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9899T>C;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.9898+42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.9898+42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201187828">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2615,237,0:127	1|1:0,76:76:99:2591,228,0:127	1|1:0,75:75:99:2581,225,0:127
1	201190732	.	G	A	9141.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3738269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738269" target="_blank">rs3738269</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=33073;ExAC.Info.AN=126692;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=24066;ExAC.Info.AC_Hom=4426;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10059G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val3353Val/c.10059G>A;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.10059G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.10059G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201190732">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,40:63:99:1112,0,701:127	1|1:0,89:89:99:2943,267,0:127	0|0:53,0:53:99:0,159,1945:127
1	201195119	.	C	T	1784.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3738270;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738270" target="_blank">rs3738270</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=78908;ExAC.Info.AN=126340;ExAC.Info.AF=0.625;ExAC.Info.AC_Het=25996;ExAC.Info.AC_Hom=24610;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10654C>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Tac;snpeff.Amino_Acid_Change=p.His3552Tyr/c.10654C>T;snpeff.Amino_Acid_length=3708;snpeff.Gene_Name=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335211;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335211;SAVANT_GENE=IGFN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGFN1" target="_blank">IGFN1</a>;SAVANT_INFO=+/38.1kb/24/11.8kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.10654C>T_p.His3552Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGFN1+c.10654C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201195119">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,3216:127	0|0:117,0:117:99:0,351,4035:127	0|1:42,33:75:99:911,0,1218:127
1	201252701	.	A	T	9417.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Ectodermal_dysplasia/skin_fragility_syndrome|_604536_(3);dbSNP139.ID=rs861275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=861275" target="_blank">rs861275</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=130;snpeff.Amino_Acid_Change=c.-130A>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263946;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263946;SAVANT_GENE=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;SAVANT_INFO=+/49.5kb/15/5.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-130A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP1+c.-130A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201252701">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,44:74:99:1120,0,789:127	0|1:65,42:107:99:1015,0,1951:127	1|1:0,66:66:99:2174,198,0:127
1	201252866	.	C	T	9395.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Ectodermal_dysplasia/skin_fragility_syndrome|_604536_(3);dbSNP139.ID=rs2268147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2268147" target="_blank">rs2268147</a>;ExAC.Info.AC=15139;ExAC.Info.AN=126702;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=12561;ExAC.Info.AC_Hom=1266;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr12Tyr/c.36C>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263946;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263946;SAVANT_GENE=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;SAVANT_INFO=+/49.5kb/15/5.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.36C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP1+c.36C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201252866">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,54:112:99:1506,0,1695:127	1|0:71,61:132:99:1789,0,2136:127	0|0:100,0:100:99:0,301,3735:127
1	201282573	.	A	G	10326.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=451;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Ectodermal_dysplasia/skin_fragility_syndrome|_604536_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35507614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35507614" target="_blank">rs35507614</a>;ExAC.Info.AC=7933;ExAC.Info.AN=126598;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=6383;ExAC.Info.AC_Hom=394;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Gta;snpeff.Amino_Acid_Change=p.Ile196Val/c.586A>G;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263946;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263946;SAVANT_GENE=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;SAVANT_INFO=+/49.5kb/15/5.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.586A>G_p.Ile196Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP1+c.586A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201282573">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,68:138:99:1925,0,1738:127	1|0:87,71:158:99:1844,0,2503:127	0|0:155,0:155:99:0,466,5073:127
1	201285759	.	A	G	20973.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ectodermal_dysplasia/skin_fragility_syndrome|_604536_(3);dbSNP139.ID=rs1779297;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1779297" target="_blank">rs1779297</a>;ExAC.Info.AC=125320;ExAC.Info.AN=126694;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1246;ExAC.Info.AC_Hom=61501;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys260Lys/c.780A>G;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263946;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263946;SAVANT_GENE=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;SAVANT_INFO=+/49.5kb/15/5.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.780A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP1+c.780A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201285759">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:2942,270,0:127	1|1:0,104:104:99:3481,312,0:127	1|1:0,56:56:99:1920,168,0:127
1	201288898	.	A	C	15605.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ectodermal_dysplasia/skin_fragility_syndrome|_604536_(3);dbSNP139.ID=rs1722759;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1722759" target="_blank">rs1722759</a>;ExAC.Info.AC=126224;ExAC.Info.AN=126696;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=452;ExAC.Info.AC_Hom=62522;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1233-46A>C;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263946;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263946;SAVANT_GENE=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;SAVANT_INFO=+/49.5kb/15/5.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1233-46A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP1+c.1233-46A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201288898">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2138,183,0:127	1|1:0,62:62:99:2268,186,0:127	1|1:0,47:47:99:1792,141,0:127
1	201291066	.	C	T	29961.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ectodermal_dysplasia/skin_fragility_syndrome|_604536_(3);dbSNP139.ID=rs2071960;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2071960" target="_blank">rs2071960</a>;ExAC.Info.AC=85677;ExAC.Info.AN=126682;ExAC.Info.AF=0.676;ExAC.Info.AC_Het=26441;ExAC.Info.AC_Hom=29294;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1411-40C>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263946;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263946;SAVANT_GENE=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;SAVANT_INFO=+/49.5kb/15/5.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1411-40C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP1+c.1411-40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201291066">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:3103,256,0:127	1|1:0,145:145:99:5249,435,0:127	1|1:0,96:96:99:3304,288,0:127
1	201294278	.	G	A	9266.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Ectodermal_dysplasia/skin_fragility_syndrome|_604536_(3);dbSNP139.ID=rs41269943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41269943" target="_blank">rs41269943</a>;ExAC.Info.AC=8587;ExAC.Info.AN=126650;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=7506;ExAC.Info.AC_Hom=505;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2084+23G>A;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263946;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263946;SAVANT_GENE=PKP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP1" target="_blank">PKP1</a>;SAVANT_INFO=+/49.5kb/15/5.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2084+23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP1+c.2084+23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201294278">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,54:114:99:1531,0,1836:127	1|0:95,67:162:99:1956,0,2851:127	0|0:89,0:89:99:0,267,3270:127
1	201331068	.	A	G	8092.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_2|_115195_(3)|_Cardiomyopathy|_dilated|_1D|_601494_(3)|_Cardiomyopathy|_familial_restrictive|_3|_612422_(3)|_Left_ventricular_noncompaction_6|_601494_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs45520032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45520032" target="_blank">rs45520032</a>;hgmd_2014.2.CLASS=DM;hgmd_2014.2.PHEN=Cardiomyopathy|_hypertrophic;hgmd_2014.2.OMIM_ID=191045;hgmd_2014.2.PubMed=24093860;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24093860" target="_blank">24093860</a>;ExAC.Info.AC=16;ExAC.Info.AN=126704;ExAC.Info.AF=1.263e-04;ExAC.Info.AC_Het=16;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile230Thr/c.689T>C;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458432;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000509001;SAVANT_GENE=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;SAVANT_INFO=-/18.7kb/16/1.3kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.662T>C_p.Ile221Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT2+c.662T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201331068">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,55:135:99:1617,0,2284:127	0|0:184,0:184:99:0,552,6015:127	1|0:49,41:90:99:1264,0,1401:127
1	201331554	.	T	G	17161.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_2|_115195_(3)|_Cardiomyopathy|_dilated|_1D|_601494_(3)|_Cardiomyopathy|_familial_restrictive|_3|_612422_(3)|_Left_ventricular_noncompaction_6|_601494_(3);dbSNP139.ID=rs1104859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1104859" target="_blank">rs1104859</a>;ExAC.Info.AC=92684;ExAC.Info.AN=126682;ExAC.Info.AF=0.732;ExAC.Info.AC_Het=23757;ExAC.Info.AC_Hom=33396;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.607-404A>C;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458432;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000509001;SAVANT_GENE=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;SAVANT_INFO=-/18.7kb/16/1.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.571-32A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT2+c.571-32A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201331554">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2266,195,0:127	1|1:0,73:73:99:2636,219,0:127	1|1:0,56:56:99:2071,168,0:127
1	201334382	.	G	A	48026.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=611;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_2|_115195_(3)|_Cardiomyopathy|_dilated|_1D|_601494_(3)|_Cardiomyopathy|_familial_restrictive|_3|_612422_(3)|_Left_ventricular_noncompaction_6|_601494_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign_based_on_frequency|_1000Genomes_Minor_allele_G_freq_0|328_(235/715);ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs3729547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3729547" target="_blank">rs3729547</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=91155;ExAC.Info.AN=126704;ExAC.Info.AF=0.719;ExAC.Info.AC_Het=24761;ExAC.Info.AC_Hom=33193;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000125571|RCV000036579;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile118Ile/c.354C>T;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458432;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000509001;SAVANT_GENE=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;SAVANT_INFO=-/18.7kb/16/1.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.318C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT2+c.318C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201334382">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000125571%20OR%20RCV000036579" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,190:190:99:6196,570,0:127	1|1:0,238:238:99:7980,715,0:127	1|1:0,183:183:99:6321,549,0:127
1	201334795	.	C	T	10234.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_2|_115195_(3)|_Cardiomyopathy|_dilated|_1D|_601494_(3)|_Cardiomyopathy|_familial_restrictive|_3|_612422_(3)|_Left_ventricular_noncompaction_6|_601494_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs3729845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3729845" target="_blank">rs3729845</a>;ExAC.Info.AC=7865;ExAC.Info.AN=126694;ExAC.Info.AF=0.062;ExAC.Info.AC_Het=7152;ExAC.Info.AC_Hom=311;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036561;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser81Ser/c.243G>A;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458432;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000509001;SAVANT_GENE=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;SAVANT_INFO=-/18.7kb/16/1.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.207G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT2+c.207G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201334795">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036561" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:84,70:154:99:1782,0,2189:127	1|0:83,86:169:99:2311,0,2334:127	0|0:129,0:129:99:0,387,4101:127
1	201335899	.	C	T	15006.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_2|_115195_(3)|_Cardiomyopathy|_dilated|_1D|_601494_(3)|_Cardiomyopathy|_familial_restrictive|_3|_612422_(3)|_Left_ventricular_noncompaction_6|_601494_(3);dbSNP139.ID=rs1573230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1573230" target="_blank">rs1573230</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.239+67G>A;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458432;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000509001;SAVANT_GENE=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;SAVANT_INFO=-/18.7kb/16/1.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.203+67G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT2+c.203+67G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201335899">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2231,183,0:127	1|1:0,62:62:99:2370,186,0:127	1|1:0,45:45:99:1693,135,0:127
1	201336984	.	C	T	6996.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_2|_115195_(3)|_Cardiomyopathy|_dilated|_1D|_601494_(3)|_Cardiomyopathy|_familial_restrictive|_3|_612422_(3)|_Left_ventricular_noncompaction_6|_601494_(3);dbSNP139.ID=rs3729843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3729843" target="_blank">rs3729843</a>;ExAC.Info.AC=52275;ExAC.Info.AN=126704;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=28694;ExAC.Info.AC_Hom=11787;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.170-50G>A;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458432;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000509001;SAVANT_GENE=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;SAVANT_INFO=-/18.7kb/16/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.134-50G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT2+c.134-50G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201336984">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,27:56:99:701,0,800:127	0|1:24,28:52:99:695,0,674:127	1|1:0,47:47:99:1556,141,0:127
1	201338896	.	T	C	15746.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_2|_115195_(3)|_Cardiomyopathy|_dilated|_1D|_601494_(3)|_Cardiomyopathy|_familial_restrictive|_3|_612422_(3)|_Left_ventricular_noncompaction_6|_601494_(3);dbSNP139.ID=rs10920184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10920184" target="_blank">rs10920184</a>;ExAC.Info.AC=75705;ExAC.Info.AN=126694;ExAC.Info.AF=0.598;ExAC.Info.AC_Het=29079;ExAC.Info.AC_Hom=23281;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.103+48A>G;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458432;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000509001;SAVANT_GENE=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;SAVANT_INFO=-/18.7kb/16/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.68-1541A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT2+c.68-1541A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201338896">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2116,180,0:127	1|1:0,67:67:99:2345,201,0:127	1|1:0,48:48:99:1713,144,0:127
1	201339043	.	C	T	8420.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_2|_115195_(3)|_Cardiomyopathy|_dilated|_1D|_601494_(3)|_Cardiomyopathy|_familial_restrictive|_3|_612422_(3)|_Left_ventricular_noncompaction_6|_601494_(3);dbSNP139.ID=rs12049476;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12049476" target="_blank">rs12049476</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.74-70G>A;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458432;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000509001;SAVANT_GENE=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;SAVANT_INFO=-/18.7kb/16/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.68-1688G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT2+c.68-1688G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201339043">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:911,72,0:77	1|1:0,35:35:99:1274,105,0:77	1|1:0,26:26:78:912,78,0:77
1	201341175	.	CAGAAG	C	49147.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=447;MQ=70.04;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_2|_115195_(3)|_Cardiomyopathy|_dilated|_1D|_601494_(3)|_Cardiomyopathy|_familial_restrictive|_3|_612422_(3)|_Left_ventricular_noncompaction_6|_601494_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC|PROBABLE_NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs45533739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45533739" target="_blank">rs45533739</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Cardiomyopathy|_hypertrophic|_association_with;hgmd_2014.2.OMIM_ID=191045;hgmd_2014.2.PubMed=14986170;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=14986170" target="_blank">14986170</a>;ExAC.Info.AC=75109;ExAC.Info.AN=126704;ExAC.Info.AF=0.593;ExAC.Info.AC_Het=29108;ExAC.Info.AC_Hom=22938;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.55-7_55-3delCTTCT;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.55_59delCTTCT;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458432;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000509001;SAVANT_GENE=TNNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT2" target="_blank">TNNT2</a>;SAVANT_INFO=-/18.7kb/16/1.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.53-11_53-7del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT2+c.53-11_53-7del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201341175">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,130:130:99:5818,392,0:127	1|1:0,183:183:99:8194,552,0:127	1|1:0,134:134:99:5947,404,0:127
1	201355522	.	T	C	4446.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4128458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4128458" target="_blank">rs4128458</a>;ExAC.Info.AC=58211;ExAC.Info.AN=121298;ExAC.Info.AF=0.480;ExAC.Info.AC_Het=25980;ExAC.Info.AC_Hom=13805;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys337Glu/c.1009A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=LAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAD1" target="_blank">LAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367313;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391967;SAVANT_GENE=LAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAD1" target="_blank">LAD1</a>;SAVANT_INFO=-/18.8kb/10/2.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.967A>G_p.Lys323Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAD1+c.967A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201355522">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,15:26:99:501,0,254:86	1|1:0,39:39:99:1472,117,0:86	0|0:29,0:29:87:0,87,966:86
1	201355669	.	T	C	3721.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs68021059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=68021059" target="_blank">rs68021059</a>;ExAC.Info.AC=8959;ExAC.Info.AN=126674;ExAC.Info.AF=0.071;ExAC.Info.AC_Het=8100;ExAC.Info.AC_Hom=403;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr288Ala/c.862A>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=LAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAD1" target="_blank">LAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367313;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391967;SAVANT_GENE=LAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAD1" target="_blank">LAD1</a>;SAVANT_INFO=-/18.8kb/10/2.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.820A>G_p.Thr274Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAD1+c.820A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201355669">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,25:52:99:830,0,767:127	1|0:40,21:61:99:663,0,1266:127	0|0:76,0:76:99:0,228,2565:127
1	201355943	.	C	T	8511.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2799677;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2799677" target="_blank">rs2799677</a>;ExAC.Info.AC=61038;ExAC.Info.AN=126702;ExAC.Info.AF=0.482;ExAC.Info.AC_Het=30564;ExAC.Info.AC_Hom=15187;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys196Lys/c.588G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=LAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAD1" target="_blank">LAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367313;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391967;SAVANT_GENE=LAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAD1" target="_blank">LAD1</a>;SAVANT_INFO=-/18.8kb/10/2.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.546G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAD1+c.546G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201355943">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,30:57:99:868,0,893:127	1|1:0,76:76:99:2849,229,0:127	0|0:50,0:50:99:0,150,2024:127
1	201360281	.	A	G	3944.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2719184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2719184" target="_blank">rs2719184</a>;ExAC.Info.AC=2432;ExAC.Info.AN=17016;ExAC.Info.AF=0.143;ExAC.Info.AC_Het=1793;ExAC.Info.AC_Hom=217;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.81-1850T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=LAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAD1" target="_blank">LAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367313;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391967;SAVANT_GENE=LAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAD1" target="_blank">LAD1</a>;SAVANT_INFO=-/18.8kb/10/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.39-1850T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAD1+c.39-1850T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201360281">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,328,3638:127	0|1:69,68:137:99:1991,0,1862:127	0|0:114,0:114:99:0,342,3766:127
1	201368463	.	G	GT	2150.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=107;MQ=70.04;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs28364652;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28364652" target="_blank">rs28364652</a>;ExAC.Info.AC=8326;ExAC.Info.AN=60480;ExAC.Info.AF=0.138;ExAC.Info.AC_Het=1668;ExAC.Info.AC_Hom=232;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.80+75_80+74insA;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=LAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAD1" target="_blank">LAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367313;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000391967;SAVANT_GENE=LAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAD1" target="_blank">LAD1</a>;SAVANT_INFO=-/18.8kb/10/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-30_-29insA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAD1+c.-30_-29insA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201368463">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,1141:87	0|1:19,21:40:99:703,0,628:87	0|1:25,13:38:99:397,0,827:87
1	201434740	.	G	A	2566.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1053592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1053592" target="_blank">rs1053592</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PHLDA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHLDA3" target="_blank">PHLDA3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367311;SAVANT_GENE=PHLDA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHLDA3" target="_blank">PHLDA3</a>;SAVANT_INFO=-/3.7kb/2/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2791C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHLDA3+c.*2791C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201434740">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1934:127	0|1:44,44:88:99:1302,0,1334:127	0|0:60,0:60:99:0,180,2164:127
1	201437832	.	C	T	1312.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35383942;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35383942" target="_blank">rs35383942</a>;ExAC.Info.AC=5105;ExAC.Info.AN=124590;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4345;ExAC.Info.AC_Hom=155;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83C>T;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=PHLDA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHLDA3" target="_blank">PHLDA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367309;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg28Gln/c.83G>A;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=PHLDA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHLDA3" target="_blank">PHLDA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367309;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367311;SAVANT_GENE=PHLDA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHLDA3" target="_blank">PHLDA3</a>;SAVANT_INFO=-/3.7kb/2/1.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.83G>A_p.Arg28Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHLDA3+c.83G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201437832">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1169:104	0|0:41,0:41:99:0,122,1377:104	0|1:14,20:34:99:675,0,406:104
1	201618264	.	C	T	3380.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=393;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1267119;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1267119" target="_blank">rs1267119</a>;ExAC.Info.AC=8018;ExAC.Info.AN=126138;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=7074;ExAC.Info.AC_Hom=295;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly156Gly/c.468C>T;snpeff.Amino_Acid_length=1877;snpeff.Gene_Name=NAV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367296;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367296;SAVANT_GENE=NAV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;SAVANT_INFO=+/178.7kb/30/13.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.468C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV1+c.468C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201618264">View</a>	GT:AD:DP:GQ:PL:TP	0|0:116,0:116:99:0,348,3905:127	0|0:151,0:151:99:0,453,5313:127	0|1:67,59:126:99:1709,0,2047:127
1	201749520	.	G	C	10852.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=457;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs529581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=529581" target="_blank">rs529581</a>;ExAC.Info.AC=45464;ExAC.Info.AN=126700;ExAC.Info.AF=0.359;ExAC.Info.AC_Het=28048;ExAC.Info.AC_Hom=8684;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1227-29G>C;snpeff.Amino_Acid_length=1877;snpeff.Gene_Name=NAV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367296;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.684+36835C>G;snpeff.Gene_Name=IPO9-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413035;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367296;SAVANT_GENE=NAV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;SAVANT_INFO=+/178.7kb/30/13.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1227-29G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV1+c.1227-29G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201749520">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,67:132:99:1885,0,1841:127	1|0:80,80:160:99:2384,0,2166:127	0|0:165,0:165:99:0,496,5606:127
1	201754410	.	CT	C	231.96	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=32;MQ=70.51;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs36061932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36061932" target="_blank">rs36061932</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2805-27delT;snpeff.Amino_Acid_length=1877;snpeff.Gene_Name=NAV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367296;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.684+31944delA;snpeff.Gene_Name=IPO9-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413035;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367296;SAVANT_GENE=NAV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;SAVANT_INFO=+/178.7kb/30/13.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2805-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV1+c.2805-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201754410">View</a>	GT:AD:DP:GQ:PL:TP	0|0:10,1:11:23:0,23,256:3	0|1:4,8:12:56:131,0,56:3	0|1:7,2:9:1:1,0,176:3
1	201754411	.	T	TC	43.72	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=42;MQ=70.58;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs59543474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59543474" target="_blank">rs59543474</a>;ExAC.Info.AC=2694;ExAC.Info.AN=34186;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=1928;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2805-26_2805-25insC;snpeff.Amino_Acid_length=1877;snpeff.Gene_Name=NAV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367296;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.684+31944_684+31943insG;snpeff.Gene_Name=IPO9-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413035;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367296;SAVANT_GENE=NAV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;SAVANT_INFO=+/178.7kb/30/13.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2805-27_2805-26insC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV1+c.2805-27_2805-26insC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201754411">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,0:11:34:0,34,324:33	0|0:22,0:22:67:0,67,776:33	0|1:6,3:9:45:45,0,154:33
1	201754412	.	T	C	22.36	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=55;MQ=70.57;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12146005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12146005" target="_blank">rs12146005</a>;ExAC.Info.AC=931;ExAC.Info.AN=32646;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=568;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2805-26T>C;snpeff.Amino_Acid_length=1877;snpeff.Gene_Name=NAV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367296;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.684+31943A>G;snpeff.Gene_Name=IPO9-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413035;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367296;SAVANT_GENE=NAV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV1" target="_blank">NAV1</a>;SAVANT_INFO=+/178.7kb/30/13.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2805-26T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV1+c.2805-26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201754412">View</a>	GT:AD:DP:GQ:PL:TP	0|0:16,2:18:6:0,6,411:6	0|0:24,0:24:73:0,73,826:6	0|1:10,3:13:34:34,0,250:6
1	201826340	.	C	T	4730.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2172935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2172935" target="_blank">rs2172935</a>;ExAC.Info.AC=35430;ExAC.Info.AN=126702;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=24867;ExAC.Info.AC_Hom=5270;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1221+18C>T;snpeff.Amino_Acid_length=1041;snpeff.Gene_Name=IPO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO9" target="_blank">IPO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361565;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361565;SAVANT_GENE=IPO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO9" target="_blank">IPO9</a>;SAVANT_INFO=+/55.2kb/24/11.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1221+18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPO9+c.1221+18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201826340">View</a>	GT:AD:DP:GQ:PL:TP	0|0:124,0:124:99:0,373,4596:127	0|1:101,86:187:99:2384,0,3227:127	0|0:138,0:138:99:0,415,5077:127
1	201837934	.	CGT	C	3758.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=75;MQ=70.26;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs34353605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34353605" target="_blank">rs34353605</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2004+11_2004+12delGT;snpeff.Amino_Acid_length=1041;snpeff.Gene_Name=IPO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO9" target="_blank">IPO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361565;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361565;SAVANT_GENE=IPO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO9" target="_blank">IPO9</a>;SAVANT_INFO=+/55.2kb/24/11.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2004+32_2004+33delTG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPO9+c.2004+32_2004+33delTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201837934">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,10:24:99:256,0,404:82	0|1:7,16:23:99:469,0,161:82	1|1:0,28:28:82:884,82,0:82
1	201840464	.	T	C	11822.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2644124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2644124" target="_blank">rs2644124</a>;ExAC.Info.AC=126435;ExAC.Info.AN=126690;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=253;ExAC.Info.AC_Hom=62959;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2576+9T>C;snpeff.Amino_Acid_length=1041;snpeff.Gene_Name=IPO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO9" target="_blank">IPO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361565;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361565;SAVANT_GENE=IPO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO9" target="_blank">IPO9</a>;SAVANT_INFO=+/55.2kb/24/11.4kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2576+9T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPO9+c.2576+9T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201840464">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1612,141,0:110	1|1:0,37:37:99:1400,111,0:110	1|1:0,58:58:99:2119,174,0:110
1	201844128	.	G	A	14291.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2678203;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2678203" target="_blank">rs2678203</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2938+64G>A;snpeff.Amino_Acid_length=1041;snpeff.Gene_Name=IPO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO9" target="_blank">IPO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361565;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361565;SAVANT_GENE=IPO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO9" target="_blank">IPO9</a>;SAVANT_INFO=+/55.2kb/24/11.4kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2938+64G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPO9+c.2938+64G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201844128">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1549,150,0:127	1|1:0,78:78:99:2654,234,0:127	1|1:0,52:52:99:1766,156,0:127
1	201860626	.	A	G	10506.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2250377;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2250377" target="_blank">rs2250377</a>;ExAC.Info.AC=91633;ExAC.Info.AN=126704;ExAC.Info.AF=0.723;ExAC.Info.AC_Het=24719;ExAC.Info.AC_Hom=33446;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=SHISA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHISA4" target="_blank">SHISA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362011;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=SHISA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHISA4" target="_blank">SHISA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362011;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=SHISA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHISA4" target="_blank">SHISA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362011;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=SHISA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHISA4" target="_blank">SHISA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362011;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=SHISA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHISA4" target="_blank">SHISA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362011;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atA/atG;snpeff.Amino_Acid_Change=p.Ile159Met/c.477A>G;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=SHISA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHISA4" target="_blank">SHISA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362011;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362011;SAVANT_GENE=SHISA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHISA4" target="_blank">SHISA4</a>;SAVANT_INFO=+/3.6kb/5/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.477A>G_p.Ile159Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SHISA4+c.477A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201860626">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1746,156,0:127	1|0:32,25:57:99:793,0,934:127	1|1:0,48:48:99:1727,144,0:127
1	201865763	.	A	G	27029.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs8028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8028" target="_blank">rs8028</a>;ExAC.Info.AC=13812;ExAC.Info.AN=20302;ExAC.Info.AF=0.680;ExAC.Info.AC_Het=3033;ExAC.Info.AC_Hom=4217;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-307B6.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-307B63" target="_blank">RP11-307B63</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1737;snpeff.Amino_Acid_Change=c.*1737T>C;snpeff.Amino_Acid_length=600;snpeff.Gene_Name=LMOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-307B63" target="_blank">RP11-307B63</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367288;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367288;SAVANT_GENE=LMOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMOD1" target="_blank">LMOD1</a>;SAVANT_INFO=-/50.1kb/3/4.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1737T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMOD1+c.*1737T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201865763">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3618,303,0:127	1|0:71,85:156:99:2566,0,1941:127	1|1:0,123:123:99:4420,369,0:127
1	201869257	.	G	A	5292.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=392;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2820312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2820312" target="_blank">rs2820312</a>;ExAC.Info.AC=34843;ExAC.Info.AN=125458;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=24462;ExAC.Info.AC_Hom=5129;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr295Met/c.884C>T;snpeff.Amino_Acid_length=600;snpeff.Gene_Name=LMOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMOD1" target="_blank">LMOD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367288;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367288;SAVANT_GENE=LMOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMOD1" target="_blank">LMOD1</a>;SAVANT_INFO=-/50.1kb/3/4.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.884C>T_p.Thr295Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMOD1+c.884C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201869257">View</a>	GT:AD:DP:GQ:PL:TP	0|0:138,0:138:99:0,415,4946:127	0|1:67,86:153:99:2665,0,2101:127	0|0:101,0:101:99:0,304,3644:127
1	201924749	.	G	C	2993.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3820438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820438" target="_blank">rs3820438</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.26+69G>C;snpeff.Amino_Acid_length=171;snpeff.Gene_Name=TIMM17A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM17A" target="_blank">TIMM17A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367287;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367287;SAVANT_GENE=TIMM17A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM17A" target="_blank">TIMM17A</a>;SAVANT_INFO=+/15.2kb/6/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.26+69G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM17A+c.26+69G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201924749">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,28:38:99:841,0,275:127	0|0:43,0:43:99:0,129,1581:127	1|0:18,18:36:99:543,0,564:127
1	201926403	.	T	G	10944.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=575;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61821487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61821487" target="_blank">rs61821487</a>;ExAC.Info.AC=9993;ExAC.Info.AN=126688;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=9114;ExAC.Info.AC_Hom=438;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.27-6T>G;snpeff.Amino_Acid_length=171;snpeff.Gene_Name=TIMM17A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM17A" target="_blank">TIMM17A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367287;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.27T>G;snpeff.Amino_Acid_length=171;snpeff.Gene_Name=TIMM17A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM17A" target="_blank">TIMM17A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367287;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367287;SAVANT_GENE=TIMM17A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM17A" target="_blank">TIMM17A</a>;SAVANT_INFO=+/15.2kb/6/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.27-6T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM17A+c.27-6T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201926403">View</a>	GT:AD:DP:GQ:PL:TP	0|1:92,68:160:99:2045,0,2632:127	1|0:115,82:197:99:2472,0,3343:127	0|0:218,0:218:99:0,655,7408:127
1	201934578	.	G	A	6128.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4648" target="_blank">rs4648</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=9979;ExAC.Info.AN=126702;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=9105;ExAC.Info.AC_Hom=436;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337G>A;snpeff.Amino_Acid_length=171;snpeff.Gene_Name=TIMM17A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM17A" target="_blank">TIMM17A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367287;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val113Ile/c.337G>A;snpeff.Amino_Acid_length=171;snpeff.Gene_Name=TIMM17A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM17A" target="_blank">TIMM17A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367287;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367287;SAVANT_GENE=TIMM17A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM17A" target="_blank">TIMM17A</a>;SAVANT_INFO=+/15.2kb/6/1.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.337G>A_p.Val113Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM17A+c.337G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201934578">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,40:92:99:1047,0,1591:127	1|0:65,59:124:99:1426,0,1860:127	0|0:110,0:110:99:0,334,3856:127
1	201952574	.	T	C	6301.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4950806;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4950806" target="_blank">rs4950806</a>;ExAC.Info.AC=12482;ExAC.Info.AN=22498;ExAC.Info.AF=0.555;ExAC.Info.AC_Het=4357;ExAC.Info.AC_Hom=3177;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.447+333T>C;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=RNPEP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPEP" target="_blank">RNPEP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295640;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295640;SAVANT_GENE=RNPEP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPEP" target="_blank">RNPEP</a>;SAVANT_INFO=+/23.5kb/11/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.447+333T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPEP+c.447+333T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201952574">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,18:42:99:617,0,689:125	0|1:37,20:57:99:619,0,991:125	1|1:0,42:42:99:1595,126,0:125
1	201952755	.	T	A	8549.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4950807;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4950807" target="_blank">rs4950807</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.447+514T>A;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=RNPEP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPEP" target="_blank">RNPEP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295640;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295640;SAVANT_GENE=RNPEP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPEP" target="_blank">RNPEP</a>;SAVANT_INFO=+/23.5kb/11/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.447+514T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPEP+c.447+514T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201952755">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,35:67:99:930,0,838:127	0|1:28,35:63:99:1064,0,839:127	1|1:0,58:58:99:2024,174,0:127
1	201969082	.	G	A	13436.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1130790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1130790" target="_blank">rs1130790</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=49082;ExAC.Info.AN=126696;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=28743;ExAC.Info.AC_Hom=10054;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln381Gln/c.1143G>A;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=RNPEP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPEP" target="_blank">RNPEP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295640;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295640;SAVANT_GENE=RNPEP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPEP" target="_blank">RNPEP</a>;SAVANT_INFO=+/23.5kb/11/2.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1143G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPEP+c.1143G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201969082">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1795,165,0:127	1|1:0,54:54:99:1969,162,0:127	1|1:0,56:56:99:1863,168,0:127
1	201970562	.	T	C	29927.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4332408;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4332408" target="_blank">rs4332408</a>;ExAC.Info.AC=125925;ExAC.Info.AN=126704;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=725;ExAC.Info.AC_Hom=62600;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.555-1107A>G;snpeff.Gene_Name=RP11-465N4.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-465N44" target="_blank">RP11-465N44</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000419190;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val421Val/c.1263T>C;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=RNPEP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-465N44" target="_blank">RP11-465N44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295640;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295640;SAVANT_GENE=RNPEP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPEP" target="_blank">RNPEP</a>;SAVANT_INFO=+/23.5kb/11/2.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1263T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPEP+c.1263T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201970562">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4137,366,0:127	1|1:0,114:114:99:4178,343,0:127	1|1:0,121:121:99:4284,364,0:127
1	201970748	.	G	A	16901.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4131469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4131469" target="_blank">rs4131469</a>;ExAC.Info.AC=49242;ExAC.Info.AN=126702;ExAC.Info.AF=0.389;ExAC.Info.AC_Het=28795;ExAC.Info.AC_Hom=10204;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1318-39G>A;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=RNPEP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPEP" target="_blank">RNPEP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295640;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.555-1293C>T;snpeff.Gene_Name=RP11-465N4.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPEP" target="_blank">RNPEP</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000419190;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295640;SAVANT_GENE=RNPEP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNPEP" target="_blank">RNPEP</a>;SAVANT_INFO=+/23.5kb/11/2.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1318-39G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNPEP+c.1318-39G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201970748">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:2032,165,0:127	1|1:0,83:83:99:3129,249,0:127	1|1:0,55:55:99:2104,165,0:127
1	201981218	.	C	G	7655.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11543979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11543979" target="_blank">rs11543979</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=32138;ExAC.Info.AN=126704;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=23253;ExAC.Info.AC_Hom=4433;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.215+506C>G;snpeff.Gene_Name=RP11-510N19.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-510N195" target="_blank">RP11-510N195</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000504773;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggG;snpeff.Amino_Acid_Change=p.Gly99Gly/c.297C>G;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=ELF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-510N195" target="_blank">RP11-510N195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367284;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359651;SAVANT_GENE=ELF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF3" target="_blank">ELF3</a>;SAVANT_INFO=+/8.1kb/8/5.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.297C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELF3+c.297C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201981218">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,51:76:99:1386,0,705:127	1|1:0,57:57:99:2055,171,0:127	0|0:55,0:55:99:0,165,1820:127
1	201981862	.	T	C	4626.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2819362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2819362" target="_blank">rs2819362</a>;ExAC.Info.AC=75429;ExAC.Info.AN=126200;ExAC.Info.AF=0.598;ExAC.Info.AC_Het=27371;ExAC.Info.AC_Hom=22049;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.215+1150T>C;snpeff.Gene_Name=RP11-510N19.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-510N195" target="_blank">RP11-510N195</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000504773;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro191Pro/c.573T>C;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=ELF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-510N195" target="_blank">RP11-510N195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367284;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359651;SAVANT_GENE=ELF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF3" target="_blank">ELF3</a>;SAVANT_INFO=+/8.1kb/8/5.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.573T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELF3+c.573T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:201981862">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,15:27:99:401,0,365:77	1|1:0,46:46:99:1609,138,0:77	0|0:26,0:26:78:0,78,935:77
1	202092360	.	G	A	14002.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795595" target="_blank">rs3795595</a>;ExAC.Info.AC=112307;ExAC.Info.AN=126690;ExAC.Info.AF=0.886;ExAC.Info.AC_Het=12401;ExAC.Info.AC_Hom=49742;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.269G>A;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367282;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gAc;snpeff.Amino_Acid_Change=p.Gly90Asp/c.269G>A;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367282;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367282;SAVANT_GENE=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;SAVANT_INFO=+/6.7kb/2/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.269G>A_p.Gly90Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR37L1+c.269G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202092360">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1919,171,0:127	1|1:0,70:70:99:2362,210,0:127	1|1:0,45:45:99:1516,135,0:127
1	202092415	.	A	G	22962.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3795596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795596" target="_blank">rs3795596</a>;ExAC.Info.AC=112461;ExAC.Info.AN=126704;ExAC.Info.AF=0.888;ExAC.Info.AC_Het=12342;ExAC.Info.AC_Hom=50021;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324A>G;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367282;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly108Gly/c.324A>G;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367282;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367282;SAVANT_GENE=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;SAVANT_INFO=+/6.7kb/2/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.324A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR37L1+c.324A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202092415">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:3258,276,0:127	1|1:0,85:85:99:3071,255,0:127	1|1:0,75:75:99:2672,225,0:127
1	202092580	.	T	C	25894.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7516762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7516762" target="_blank">rs7516762</a>;ExAC.Info.AC=111811;ExAC.Info.AN=126704;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=12702;ExAC.Info.AC_Hom=49499;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.489T>C;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367282;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser163Ser/c.489T>C;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367282;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367282;SAVANT_GENE=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;SAVANT_INFO=+/6.7kb/2/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.489T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR37L1+c.489T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202092580">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3599,313,0:127	1|1:0,126:126:99:4282,378,0:127	1|1:0,82:82:99:2917,247,0:127
1	202096815	.	G	A	14842.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3820380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820380" target="_blank">rs3820380</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.631-54G>A;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367282;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.631G>A;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367282;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.631G>A;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367282;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.631G>A;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367282;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.631G>A;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367282;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367282;SAVANT_GENE=GPR37L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR37L1" target="_blank">GPR37L1</a>;SAVANT_INFO=+/6.7kb/2/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.631-54G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR37L1+c.631-54G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202096815">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:1912,186,0:127	1|1:0,72:72:99:2354,216,0:127	1|1:0,56:56:99:1944,168,0:127
1	202129826	.	T	C	6588.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4309039;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4309039" target="_blank">rs4309039</a>;ExAC.Info.AC=18420;ExAC.Info.AN=56414;ExAC.Info.AF=0.327;ExAC.Info.AC_Het=3894;ExAC.Info.AC_Hom=2487;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln37Arg/c.110A>G;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=PTPN7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN7" target="_blank">PTPN7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309017;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309017;SAVANT_GENE=PTPN7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN7" target="_blank">PTPN7</a>;SAVANT_INFO=-/14.6kb/10/3.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.110A>G_p.Gln37Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN7+c.110A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202129826">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,20:41:99:663,0,710:96	0|1:29,37:66:99:1022,0,949:96	1|1:0,32:32:96:1159,96,0:96
1	202129895	.	G	A	940.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3935295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3935295" target="_blank">rs3935295</a>;ExAC.Info.AC=10842;ExAC.Info.AN=94540;ExAC.Info.AF=0.115;ExAC.Info.AC_Het=3124;ExAC.Info.AC_Hom=714;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr14Met/c.41C>T;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=PTPN7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN7" target="_blank">PTPN7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309017;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309017;SAVANT_GENE=PTPN7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN7" target="_blank">PTPN7</a>;SAVANT_INFO=-/14.6kb/10/3.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.41C>T_p.Thr14Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN7+c.41C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202129895">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2093:127	0|0:69,0:69:99:0,207,2477:127	0|1:26,16:42:99:489,0,768:127
1	202129930	.	G	A	718.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72746636;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72746636" target="_blank">rs72746636</a>;ExAC.Info.AC=923;ExAC.Info.AN=101176;ExAC.Info.AF=9.123e-03;ExAC.Info.AC_Het=519;ExAC.Info.AC_Hom=13;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val2Val/c.6C>T;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=PTPN7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN7" target="_blank">PTPN7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309017;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309017;SAVANT_GENE=PTPN7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN7" target="_blank">PTPN7</a>;SAVANT_INFO=-/14.6kb/10/3.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.6C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN7+c.6C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202129930">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1935:127	0|0:69,0:69:99:0,207,2419:127	0|1:30,16:46:99:378,0,903:127
1	202155543	.	A	C	10272.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2993432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2993432" target="_blank">rs2993432</a>;ExAC.Info.AC=14774;ExAC.Info.AN=17648;ExAC.Info.AF=0.837;ExAC.Info.AC_Het=1303;ExAC.Info.AC_Hom=5396;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4005A>C;snpeff.Gene_Name=PTPRVP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRVP" target="_blank">PTPRVP</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000490225;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRVP" target="_blank">PTPRVP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRVP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202155543">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,27:57:99:848,0,839:127	0|1:41,43:84:99:1311,0,1204:127	1|1:0,60:60:99:2339,180,0:127
1	202156135	.	C	CCCTCGCTCCTCGCTCCTCGCTCCTCGCT	1964.99	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=26;MQ=70.41;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4144-64_4144-63insCCTCGCTCCTCGCTCCTCGCTCCTCGCT;snpeff.Gene_Name=PTPRVP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRVP" target="_blank">PTPRVP</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000490225;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRVP" target="_blank">PTPRVP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRVP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202156135">View</a>	GT:AD:DP:GQ:PL:TP	1|0:3,6:9:99:325,0,703:35	0|1:8,1:9:99:116,0,1285:35	1|1:0,8:8:35:503,35,0:35
1	202156628	.	A	C	5074.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3010089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3010089" target="_blank">rs3010089</a>;ExAC.Info.AC=14207;ExAC.Info.AN=17136;ExAC.Info.AF=0.829;ExAC.Info.AC_Het=1321;ExAC.Info.AC_Hom=5419;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4337A>C;snpeff.Gene_Name=PTPRVP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRVP" target="_blank">PTPRVP</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000490225;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRVP" target="_blank">PTPRVP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRVP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202156628">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,17:38:99:482,0,617:87	0|1:27,18:45:99:504,0,766:87	1|1:0,29:29:87:1076,87,0:87
1	202163063	.	T	C	882.2	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=22;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2361431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2361431" target="_blank">rs2361431</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=55;snpeff.Amino_Acid_Change=c.-55T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-55T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.-55T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202163063">View</a>	GT:AD:DP:GQ:PL:TP	1|0:7,3:10:93:93,0,199:18	0|1:3,3:6:99:105,0,101:18	1|1:0,6:6:18:148,18,0:18
1	202166497	.	A	G	8130.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=867;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61823731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61823731" target="_blank">rs61823731</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.212+3168A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.212+3168A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.212+3168A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202166497">View</a>	GT:AD:DP:GQ:PL:TP	0|0:283,0:283:99:0,850,9383:127	0|1:182,154:336:99:4084,0,5100:127	0|0:248,0:248:99:0,745,8474:127
1	202172943	.	A	G	2050.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72746693;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72746693" target="_blank">rs72746693</a>;ExAC.Info.AC=9291;ExAC.Info.AN=126702;ExAC.Info.AF=0.073;ExAC.Info.AC_Het=8156;ExAC.Info.AC_Hom=549;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.212+9614A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.212+9614A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.212+9614A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202172943">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1574:127	0|1:32,36:68:99:1044,0,962:127	0|0:56,0:56:99:0,168,2021:127
1	202183308	.	C	T	5035.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10920362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10920362" target="_blank">rs10920362</a>;ExAC.Info.AC=49151;ExAC.Info.AN=124560;ExAC.Info.AF=0.395;ExAC.Info.AC_Het=21456;ExAC.Info.AC_Hom=7534;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.213-11243C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.213-11243C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.213-11243C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202183308">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,10:18:99:260,0,285:122	1|1:0,48:48:99:1634,144,0:122	0|0:41,0:41:99:0,123,1590:122
1	202197161	.	C	T	5214.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3795598;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795598" target="_blank">rs3795598</a>;ExAC.Info.AC=42025;ExAC.Info.AN=126700;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=26855;ExAC.Info.AC_Hom=7548;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.356+26C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.356+26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.356+26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202197161">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,17:36:99:455,0,689:116	1|1:0,49:49:99:1731,147,0:116	0|0:39,0:39:99:0,117,1426:116
1	202266547	.	C	T	12006.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs788827;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=788827" target="_blank">rs788827</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.717-89C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.717-89C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.717-89C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202266547">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1161,99,0:127	1|1:0,64:64:99:2400,192,0:127	1|1:0,43:43:99:1564,129,0:127
1	202266607	.	C	T	20710.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs788826;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=788826" target="_blank">rs788826</a>;ExAC.Info.AC=69108;ExAC.Info.AN=126680;ExAC.Info.AF=0.546;ExAC.Info.AC_Het=29676;ExAC.Info.AC_Hom=19509;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.717-29C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.717-29C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.717-29C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202266607">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2268,207,0:127	1|1:0,116:116:99:3869,348,0:127	1|1:0,64:64:99:2183,192,0:127
1	202274936	.	T	C	9842.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs705762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=705762" target="_blank">rs705762</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1136+59T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1136+59T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.1136+59T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202274936">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1422,129,0:98	1|1:0,44:44:99:1492,132,0:98	1|1:0,33:33:99:1075,99,0:98
1	202276494	.	C	T	16725.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs896551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=896551" target="_blank">rs896551</a>;ExAC.Info.AC=68516;ExAC.Info.AN=126704;ExAC.Info.AF=0.541;ExAC.Info.AC_Het=29889;ExAC.Info.AC_Hom=19303;snpeff.Effect=sequence_feature[repeat:LRR_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro415Pro/c.1245C>T;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1245C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.1245C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202276494">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1917,168,0:127	1|1:0,71:71:99:2495,213,0:127	1|1:0,64:64:99:2255,192,0:127
1	202287206	.	T	C	20026.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs788795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=788795" target="_blank">rs788795</a>;ExAC.Info.AC=80410;ExAC.Info.AN=126702;ExAC.Info.AF=0.635;ExAC.Info.AC_Het=28089;ExAC.Info.AC_Hom=26144;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1775T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gCc;snpeff.Amino_Acid_Change=p.Val592Ala/c.1775T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.1775T>C_p.Val592Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.1775T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202287206">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1851,165,0:127	1|1:0,97:97:99:3215,289,0:127	1|1:0,74:74:99:2603,221,0:127
1	202287537	.	G	A	12139.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs788794;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=788794" target="_blank">rs788794</a>;ExAC.Info.AC=65368;ExAC.Info.AN=125656;ExAC.Info.AF=0.520;ExAC.Info.AC_Het=27504;ExAC.Info.AC_Hom=16968;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2106G>A;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2106G>A;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala702Ala/c.2106G>A;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2106G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.2106G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202287537">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1699,141,0:127	1|1:0,51:51:99:1865,153,0:127	1|1:0,45:45:99:1451,134,0:127
1	202287813	.	T	C	21456.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs788793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=788793" target="_blank">rs788793</a>;ExAC.Info.AC=80433;ExAC.Info.AN=126704;ExAC.Info.AF=0.635;ExAC.Info.AC_Het=28101;ExAC.Info.AC_Hom=26139;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2382T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe794Phe/c.2382T>C;snpeff.Amino_Acid_length=967;snpeff.Gene_Name=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367278;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367278;SAVANT_GENE=LGR6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR6" target="_blank">LGR6</a>;SAVANT_INFO=+/125.9kb/18/3.6kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2382T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR6+c.2382T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202287813">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,77:78:99:2670,194,0:127	1|1:0,109:109:99:3839,328,0:127	1|1:0,75:75:99:2692,225,0:127
1	202318316	.	A	C	8765.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs930734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=930734" target="_blank">rs930734</a>;ExAC.Info.AC=61608;ExAC.Info.AN=126172;ExAC.Info.AF=0.488;ExAC.Info.AC_Het=25996;ExAC.Info.AC_Hom=14509;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.291+46A>C;snpeff.Amino_Acid_length=982;snpeff.Gene_Name=PPP1R12B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R12B" target="_blank">PPP1R12B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336894;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000406302;SAVANT_GENE=PPP1R12B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R12B" target="_blank">PPP1R12B</a>;SAVANT_INFO=+/239.9kb/24/11.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.291+46A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPP1R12B+c.291+46A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202318316">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1244,111,0:83	1|1:0,36:36:99:1241,108,0:83	1|1:0,28:28:84:996,84,0:83
1	202474799	.	T	A	38674.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=578;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs705743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=705743" target="_blank">rs705743</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2490+8849T>A;snpeff.Amino_Acid_length=982;snpeff.Gene_Name=PPP1R12B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R12B" target="_blank">PPP1R12B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336894;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000406302;SAVANT_GENE=PPP1R12B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R12B" target="_blank">PPP1R12B</a>;SAVANT_INFO=+/239.9kb/24/11.1kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2490+8849T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPP1R12B+c.2490+8849T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202474799">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,170:170:99:5363,511,0:127	1|1:0,229:229:99:7347,687,0:127	1|1:0,179:179:99:5747,538,0:127
1	202565948	.	G	A	2705.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs504261;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=504261" target="_blank">rs504261</a>;ExAC.Info.AC=44078;ExAC.Info.AN=126704;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=28332;ExAC.Info.AC_Hom=7861;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile399Ile/c.1197C>T;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=SYT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT2" target="_blank">SYT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367267;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367267;SAVANT_GENE=SYT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT2" target="_blank">SYT2</a>;SAVANT_INFO=-/52.9kb/9/7.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1197C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT2+c.1197C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202565948">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,253,3040:127	0|0:127,0:127:99:0,382,4563:127	0|1:53,46:99:99:1372,0,1612:127
1	202566200	.	T	C	13996.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs9633344;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9633344" target="_blank">rs9633344</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1054-109A>G;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=SYT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT2" target="_blank">SYT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367267;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367267;SAVANT_GENE=SYT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT2" target="_blank">SYT2</a>;SAVANT_INFO=-/52.9kb/9/7.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1054-109A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT2+c.1054-109A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202566200">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2374,201,0:127	1|1:0,80:80:99:2780,241,0:127	1|0:43,26:69:99:780,0,1282:127
1	202572105	.	GCC	G	22964.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs55968420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55968420" target="_blank">rs55968420</a>;ExAC.Info.AC=79292;ExAC.Info.AN=126688;ExAC.Info.AF=0.626;ExAC.Info.AC_Het=29078;ExAC.Info.AC_Hom=24948;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.465+20_465+21delGG;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=SYT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT2" target="_blank">SYT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367267;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367267;SAVANT_GENE=SYT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT2" target="_blank">SYT2</a>;SAVANT_INFO=-/52.9kb/9/7.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.465+20_465+21delGG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT2+c.465+20_465+21delGG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202572105">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:3958,330,0:127	1|1:0,117:117:99:4169,349,0:127	1|0:40,42:82:99:1258,0,1394:127
1	202574784	.	G	A	18602.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1968583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1968583" target="_blank">rs1968583</a>;ExAC.Info.AC=59670;ExAC.Info.AN=126704;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=29981;ExAC.Info.AC_Hom=14835;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser39Ser/c.117C>T;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=SYT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT2" target="_blank">SYT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367267;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367267;SAVANT_GENE=SYT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT2" target="_blank">SYT2</a>;SAVANT_INFO=-/52.9kb/9/7.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.117C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT2+c.117C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202574784">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2688,246,0:127	1|1:0,110:110:99:3739,331,0:127	1|0:49,41:90:99:1060,0,1245:127
1	202703053	.	G	A	6981.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4310498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4310498" target="_blank">rs4310498</a>;ExAC.Info.AC=100717;ExAC.Info.AN=125432;ExAC.Info.AF=0.803;ExAC.Info.AC_Het=16254;ExAC.Info.AC_Hom=38601;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3532-39C>T;snpeff.Amino_Acid_length=1580;snpeff.Gene_Name=KDM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM5B" target="_blank">KDM5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367264;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367265;SAVANT_GENE=KDM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM5B" target="_blank">KDM5B</a>;SAVANT_INFO=-/82.1kb/27/7.4kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3424-39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KDM5B+c.3424-39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202703053">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,22:53:99:624,0,939:127	0|1:35,30:65:99:876,0,1090:127	1|1:0,47:47:99:1672,141,0:127
1	202705455	.	G	C	6323.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1141109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1141109" target="_blank">rs1141109</a>;ExAC.Info.AC=93738;ExAC.Info.AN=126700;ExAC.Info.AF=0.740;ExAC.Info.AC_Het=22424;ExAC.Info.AC_Hom=35626;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro1086Pro/c.3258C>G;snpeff.Amino_Acid_length=1580;snpeff.Gene_Name=KDM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM5B" target="_blank">KDM5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367264;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367265;SAVANT_GENE=KDM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM5B" target="_blank">KDM5B</a>;SAVANT_INFO=-/82.1kb/27/7.4kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.3150C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KDM5B+c.3150C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202705455">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,31:50:99:908,0,462:108	0|1:45,25:70:99:623,0,1259:108	1|1:0,36:36:99:1187,108,0:108
1	202715284	.	G	A	24678.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=578;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1141108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1141108" target="_blank">rs1141108</a>;ExAC.Info.AC=93765;ExAC.Info.AN=126680;ExAC.Info.AF=0.740;ExAC.Info.AC_Het=22369;ExAC.Info.AC_Hom=35620;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr764Tyr/c.2292C>T;snpeff.Amino_Acid_length=1580;snpeff.Gene_Name=KDM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM5B" target="_blank">KDM5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367264;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367265;SAVANT_GENE=KDM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM5B" target="_blank">KDM5B</a>;SAVANT_INFO=-/82.1kb/27/7.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2184C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KDM5B+c.2184C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202715284">View</a>	GT:AD:DP:GQ:PL:TP	1|0:90,99:189:99:2549,0,2604:127	0|1:94,106:200:99:2805,0,2820:127	1|1:0,189:189:99:6068,567,0:127
1	202718202	.	G	A	24653.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=560;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1892164;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1892164" target="_blank">rs1892164</a>;ExAC.Info.AC=84879;ExAC.Info.AN=126702;ExAC.Info.AF=0.670;ExAC.Info.AC_Het=25563;ExAC.Info.AC_Hom=29636;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His665His/c.1995C>T;snpeff.Amino_Acid_length=1580;snpeff.Gene_Name=KDM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM5B" target="_blank">KDM5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367264;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367265;SAVANT_GENE=KDM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM5B" target="_blank">KDM5B</a>;SAVANT_INFO=-/82.1kb/27/7.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1887C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KDM5B+c.1887C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202718202">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,95:177:99:2573,0,2149:127	0|1:105,105:210:99:2877,0,2981:127	1|1:0,173:173:99:5953,520,0:127
1	202733238	.	C	T	13153.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3196669;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3196669" target="_blank">rs3196669</a>;ExAC.Info.AC=93443;ExAC.Info.AN=126700;ExAC.Info.AF=0.738;ExAC.Info.AC_Het=22565;ExAC.Info.AC_Hom=35414;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr285Thr/c.855G>A;snpeff.Amino_Acid_length=1580;snpeff.Gene_Name=KDM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM5B" target="_blank">KDM5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367264;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367265;SAVANT_GENE=KDM5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM5B" target="_blank">KDM5B</a>;SAVANT_INFO=-/82.1kb/27/7.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.747G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KDM5B+c.747G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202733238">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,46:94:99:1311,0,1281:127	0|1:70,66:136:99:1725,0,1760:127	1|1:0,94:94:99:3053,282,0:127
1	202794787	.	T	C	7068.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12139944;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12139944" target="_blank">rs12139944</a>;ExAC.Info.AC=4318;ExAC.Info.AN=22634;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=2887;ExAC.Info.AC_Hom=484;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu51Leu/c.153T>C;snpeff.Amino_Acid_length=205;snpeff.Gene_Name=RP11-480I12.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-480I124" target="_blank">RP11-480I124</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330493;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330493;SAVANT_GENE=RP11-480I12.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-480I124" target="_blank">RP11-480I124</a>;SAVANT_INFO=+/7.0kb/3/2.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.153T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-480I124+c.153T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202794787">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,328,3781:127	0|1:74,72:146:99:2060,0,2055:127	0|1:42,48:90:99:1494,0,1218:127
1	202887295	.	G	A	6178.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=620;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2275734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275734" target="_blank">rs2275734</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=68867;ExAC.Info.AN=126682;ExAC.Info.AF=0.544;ExAC.Info.AC_Het=30092;ExAC.Info.AC_Hom=19352;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681+4C>T;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=KLHL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL12" target="_blank">KLHL12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435533;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.682G>A;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=KLHL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL12" target="_blank">KLHL12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435533;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BACK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.682G>A;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=KLHL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL12" target="_blank">KLHL12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435533;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.682C>T;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=KLHL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL12" target="_blank">KLHL12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435533;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367261;SAVANT_GENE=KLHL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL12" target="_blank">KLHL12</a>;SAVANT_INFO=-/36.2kb/12/3.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.567+4C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHL12+c.567+4C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202887295">View</a>	GT:AD:DP:GQ:PL:TP	0|0:181,0:181:99:0,542,6026:127	0|0:221,0:221:99:0,664,7387:127	0|1:108,110:218:99:3108,0,2953:127
1	202888947	.	T	C	2782.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3182429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3182429" target="_blank">rs3182429</a>;ExAC.Info.AC=33774;ExAC.Info.AN=126702;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=23386;ExAC.Info.AC_Hom=5187;snpeff.Effect=sequence_feature[domain:BTB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399T>C;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=KLHL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL12" target="_blank">KLHL12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435533;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BTB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399T>C;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=KLHL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL12" target="_blank">KLHL12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435533;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr133Thr/c.399A>G;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=KLHL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL12" target="_blank">KLHL12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435533;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367261;SAVANT_GENE=KLHL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL12" target="_blank">KLHL12</a>;SAVANT_INFO=-/36.2kb/12/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.285A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHL12+c.285A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202888947">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,273,3125:127	0|1:40,54:94:99:1410,0,1252:127	0|0:87,0:87:99:0,261,3019:127
1	202920300	.	A	C	3196.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2275737;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275737" target="_blank">rs2275737</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-94-8T>G;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=ADIPOR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADIPOR1" target="_blank">ADIPOR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340990;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1T>G;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=ADIPOR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADIPOR1" target="_blank">ADIPOR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340990;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340990;SAVANT_GENE=ADIPOR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADIPOR1" target="_blank">ADIPOR1</a>;SAVANT_INFO=-/17.6kb/8/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-102T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADIPOR1+c.-102T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202920300">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,0:111:99:0,334,6335:127	0|1:56,43:99:99:1617,0,3046:127	0|0:112,0:112:99:0,340,6886:127
1	202920304	.	T	C	3152.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2275738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275738" target="_blank">rs2275738</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-94-12A>G;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=ADIPOR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADIPOR1" target="_blank">ADIPOR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340990;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340990;SAVANT_GENE=ADIPOR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADIPOR1" target="_blank">ADIPOR1</a>;SAVANT_INFO=-/17.6kb/8/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-106A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADIPOR1+c.-106A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202920304">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,334,6335:127	0|1:56,42:98:99:1595,0,3049:127	0|0:111,0:111:99:0,340,6886:127
1	202931839	.	G	A	1538.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2232854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232854" target="_blank">rs2232854</a>;ExAC.Info.AC=41118;ExAC.Info.AN=126702;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=27169;ExAC.Info.AC_Hom=6885;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.746-12C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367249;SAVANT_GENE=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;SAVANT_INFO=-/5.4kb/9/1.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.746-12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYB5R1+c.746-12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202931839">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1397:125	0|1:22,25:47:99:788,0,668:125	0|0:51,0:51:99:0,153,1865:125
1	202932154	.	G	A	2394.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2232851;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232851" target="_blank">rs2232851</a>;ExAC.Info.AC=7640;ExAC.Info.AN=126698;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=6482;ExAC.Info.AC_Hom=579;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.745+40C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367249;SAVANT_GENE=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;SAVANT_INFO=-/5.4kb/9/1.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.745+40C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYB5R1+c.745+40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202932154">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,2:69:99:0,158,2203:127	0|1:32,44:76:99:1216,0,952:127	0|0:64,0:64:99:0,192,2214:127
1	202935819	.	C	A	3522.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2232843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232843" target="_blank">rs2232843</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.165+58G>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAD-binding_FR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.166C>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAD-binding_FR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.166C>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAD-binding_FR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.166C>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAD-binding_FR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.166C>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367249;SAVANT_GENE=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;SAVANT_INFO=-/5.4kb/9/1.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.165+58G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYB5R1+c.165+58G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202935819">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2851:127	0|1:63,64:127:99:1780,0,1766:127	0|0:89,0:89:99:0,267,2983:127
1	202935911	.	T	C	4752.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2232842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232842" target="_blank">rs2232842</a>;ExAC.Info.AC=13810;ExAC.Info.AN=126704;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=10610;ExAC.Info.AC_Hom=1592;snpeff.Effect=sequence_feature[domain:FAD-binding_FR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.131T>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAD-binding_FR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.131T>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAD-binding_FR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.131T>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FAD-binding_FR-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.131T>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn44Ser/c.131A>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367249;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367249;SAVANT_GENE=CYB5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R1" target="_blank">CYB5R1</a>;SAVANT_INFO=-/5.4kb/9/1.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.131A>G_p.Asn44Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYB5R1+c.131A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202935911">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,337,3793:127	0|1:68,83:151:99:2395,0,1925:127	0|0:107,0:107:99:0,322,3731:127
1	202956340	.	T	G	11230.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs705754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=705754" target="_blank">rs705754</a>;ExAC.Info.AC=3938;ExAC.Info.AN=16434;ExAC.Info.AF=0.240;ExAC.Info.AC_Het=2455;ExAC.Info.AC_Hom=508;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.584A>C;snpeff.Gene_Name=RP11-38O14.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38O145" target="_blank">RP11-38O145</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438139;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38O145" target="_blank">RP11-38O145</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-38O145+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202956340">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2395,198,0:127	1|0:32,46:78:99:1416,0,930:127	1|0:15,26:41:99:828,0,461:127
1	202987770	.	T	C	3837.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs782788;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=782788" target="_blank">rs782788</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.789+81T>C;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367242;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367242;SAVANT_GENE=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;SAVANT_INFO=+/17.5kb/8/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.789+81T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM183A+c.789+81T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202987770">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,21:55:99:643,0,959:127	1|0:31,30:61:99:892,0,852:127	0|0:69,0:69:99:0,207,2316:127
1	202987796	.	G	A	3116.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs782787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=782787" target="_blank">rs782787</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.789+107G>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367242;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367242;SAVANT_GENE=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;SAVANT_INFO=+/17.5kb/8/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.789+107G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM183A+c.789+107G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202987796">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,21:49:99:577,0,825:127	1|0:25,24:49:99:754,0,793:127	0|0:50,0:50:99:0,150,1819:127
1	202990110	.	CTTT	C	1961.95	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=0/1;dbSNP139.ID=rs140916058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140916058" target="_blank">rs140916058</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.945+35_945+37delTTT;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367242;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.946_948delTTT;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367242;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.946_948delTTT;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367242;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367242;SAVANT_GENE=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;SAVANT_INFO=+/17.5kb/8/3.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.945+49_945+51delTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM183A+c.945+49_945+51delTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202990110">View</a>	GT:AD:DP:GQ:PL	0/1:8,11:20:99:277,0,256	0/1:17,12:30:99:378,0,595	./0:14,0:19:99:120,137,696
1	202990110	.	CTTT	CT	1961.95	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.945+36_945+37delTT;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367242;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.946_947delTT;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367242;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.946_947delTT;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367242;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367242;SAVANT_GENE=TMEM183A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM183A" target="_blank">TMEM183A</a>;SAVANT_INFO=+/17.5kb/8/3.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.945+50_945+51delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM183A+c.945+50_945+51delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:202990110">View</a>	GT:AD:DP:GQ:PL	./0:8,1:20:99:277,148,270	./0:17,1:30:99:378,225,603	0/1:14,5:19:99:120,0,320
1	203003870	.	G	A	7804.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs782800;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=782800" target="_blank">rs782800</a>;ExAC.Info.AC=9671;ExAC.Info.AN=19732;ExAC.Info.AF=0.490;ExAC.Info.AC_Het=3304;ExAC.Info.AC_Hom=2223;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-399-3868G>A;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203003870">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,29:59:99:739,0,834:125	1|1:0,73:73:99:2558,219,0:125	0|0:42,0:42:99:0,126,1563:125
1	203006243	.	A	G	34290.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs782805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=782805" target="_blank">rs782805</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-399-1495A>G;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203006243">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,114:114:99:3875,343,0:127	1|1:0,175:175:99:5788,525,0:127	1|1:0,130:130:99:4191,390,0:127
1	203008174	.	G	C	27328.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61821060;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61821060" target="_blank">rs61821060</a>;ExAC.Info.AC=114191;ExAC.Info.AN=114204;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=42029;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cCc;snpeff.Amino_Acid_Change=p.Arg13Pro/c.38G>C;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203008174">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3530,317,0:127	1|1:0,119:119:99:3899,356,0:127	1|1:0,89:89:99:3253,267,0:127
1	203008286	.	C	G	6499.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10920553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10920553" target="_blank">rs10920553</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=65534;ExAC.Info.AN=118664;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=25289;ExAC.Info.AC_Hom=16100;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acG;snpeff.Amino_Acid_Change=p.Thr50Thr/c.150C>G;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203008286">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,36:61:99:1019,0,732:127	0/1:29,24:53:99:701,0,854:127	0/1:27,32:59:99:969,0,786:127
1	203012705	.	C	G	5791.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7547566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7547566" target="_blank">rs7547566</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.336+79C>G;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203012705">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,18:33:99:647,0,392:127	0/1:33,31:64:99:1014,0,1130:127	0/1:14,23:37:99:765,0,491:127
1	203023122	.	A	C	6969.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2291691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291691" target="_blank">rs2291691</a>;ExAC.Info.AC=17280;ExAC.Info.AN=105730;ExAC.Info.AF=0.163;ExAC.Info.AC_Het=4612;ExAC.Info.AC_Hom=844;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1766+33A>C;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272198;SAVANT_GENE=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=+/27.6kb/17/5.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.311+33A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+c.311+33A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203023122">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,52:88:99:1627,0,894:127	0/1:46,30:76:99:899,0,1300:127	0/1:34,18:52:99:522,0,996:127
1	203025209	.	G	C	9495.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11590950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11590950" target="_blank">rs11590950</a>;ExAC.Info.AC=26002;ExAC.Info.AN=125364;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=19988;ExAC.Info.AC_Hom=2902;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2008-39G>C;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272198;SAVANT_GENE=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=+/27.6kb/17/5.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.553-39G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+c.553-39G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203025209">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,41:97:99:1173,0,1651:127	0/1:53,55:108:99:1497,0,1413:127	0/1:28,37:65:99:1037,0,811:127
1	203030685	.	T	C	732.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=22;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2270543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270543" target="_blank">rs2270543</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2785-95T>C;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272198;SAVANT_GENE=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=+/27.6kb/17/5.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1330-95T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+c.1330-95T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203030685">View</a>	GT:AD:DP:GQ:PL:TP	0/1:4,5:9:99:160,0,137:57	0/1:3,4:7:96:145,0,96:57	0/1:2,4:6:58:113,0,58:57
1	203032922	.	C	T	5057.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1416262;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1416262" target="_blank">rs1416262</a>;ExAC.Info.AC=44081;ExAC.Info.AN=126426;ExAC.Info.AF=0.349;ExAC.Info.AC_Het=27702;ExAC.Info.AC_Hom=8032;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2812-34C>T;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272198;SAVANT_GENE=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=+/27.6kb/17/5.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1357-34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+c.1357-34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203032922">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,11:44:99:228,0,961:127	0/1:40,33:73:99:984,0,1096:127	0/1:25,30:55:99:850,0,679:127
1	203036757	.	T	C	5995.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2275354;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275354" target="_blank">rs2275354</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2988-66T>C;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272198;SAVANT_GENE=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=+/27.6kb/17/5.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1533-66T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+c.1533-66T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203036757">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,24:50:99:735,0,713:127	0/1:22,25:47:99:821,0,653:127	0/1:27,27:54:99:749,0,750:127
1	203040740	.	T	C	3040.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11583155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11583155" target="_blank">rs11583155</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3262-80T>C;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272198;SAVANT_GENE=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=+/27.6kb/17/5.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1807-80T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+c.1807-80T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203040740">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,12:27:99:378,0,428:127	0/1:30,21:51:99:649,0,921:127	0/1:12,6:18:99:155,0,415:127
1	203040816	.	G	C	6260.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2270540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270540" target="_blank">rs2270540</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=74836;ExAC.Info.AN=124986;ExAC.Info.AF=0.599;ExAC.Info.AC_Het=28516;ExAC.Info.AC_Hom=21904;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3262-4G>C;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3262G>C;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272198;SAVANT_GENE=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=+/27.6kb/17/5.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1807-4G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+c.1807-4G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203040816">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,43:79:99:1176,0,1136:127	0/1:63,37:100:99:1055,0,1979:127	0/1:30,16:46:99:484,0,1056:127
1	203044784	.	T	C	812.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs200298818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200298818" target="_blank">rs200298818</a>;ExAC.Info.AC=114;ExAC.Info.AN=123774;ExAC.Info.AF=9.210e-04;ExAC.Info.AC_Het=101;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met1137Thr/c.3410T>C;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367240;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272198;SAVANT_GENE=PPFIA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIA4" target="_blank">PPFIA4</a>;SAVANT_INFO=+/27.6kb/17/5.0kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1955T>C_p.Met652Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIA4+c.1955T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203044784">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1815:113	0|1:17,14:31:99:425,0,555:113	0|0:38,0:38:99:0,114,1377:113
1	203053768	.	T	C	11669.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs903356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=903356" target="_blank">rs903356</a>;ExAC.Info.AC=121831;ExAC.Info.AN=126558;ExAC.Info.AF=0.963;ExAC.Info.AC_Het=3965;ExAC.Info.AC_Hom=53689;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.553+7A>G;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=MYOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOG" target="_blank">MYOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241651;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.554A>G;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=MYOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOG" target="_blank">MYOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241651;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241651;SAVANT_GENE=MYOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOG" target="_blank">MYOG</a>;SAVANT_INFO=-/2.9kb/3/1.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.553+7A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOG+c.553+7A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203053768">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1433,117,0:120	1|1:0,60:60:99:2001,180,0:120	1|1:0,40:40:99:1347,120,0:120
1	203053870	.	C	T	1299.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=50;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72739504;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72739504" target="_blank">rs72739504</a>;ExAC.Info.AC=164;ExAC.Info.AN=126446;ExAC.Info.AF=1.297e-03;ExAC.Info.AC_Het=124;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.472-14G>A;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=MYOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOG" target="_blank">MYOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241651;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241651;SAVANT_GENE=MYOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOG" target="_blank">MYOG</a>;SAVANT_INFO=-/2.9kb/3/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.472-14G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOG+c.472-14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203053870">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,10:15:99:319,0,139:54	0|0:18,0:18:54:0,54,605:54	1|0:8,9:17:99:288,0,255:54
1	203055101	.	A	G	15588.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4950877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4950877" target="_blank">rs4950877</a>;ExAC.Info.AC=66285;ExAC.Info.AN=125456;ExAC.Info.AF=0.528;ExAC.Info.AC_Het=28268;ExAC.Info.AC_Hom=16440;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.-12T>C;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=MYOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOG" target="_blank">MYOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241651;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241651;SAVANT_GENE=MYOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOG" target="_blank">MYOG</a>;SAVANT_INFO=-/2.9kb/3/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOG+c.-12T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203055101">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2036,171,0:127	1|1:0,58:58:99:2143,174,0:127	1|1:0,57:57:99:1969,171,0:127
1	203135452	.	C	T	3602.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs16851030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16851030" target="_blank">rs16851030</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=424;snpeff.Amino_Acid_Change=c.*424C>T;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=ADORA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA1" target="_blank">ADORA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367236;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367236;SAVANT_GENE=ADORA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA1" target="_blank">ADORA1</a>;SAVANT_INFO=+/40.3kb/3/3.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*424C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADORA1+c.*424C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203135452">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,427,4897:127	0|1:92,68:160:99:1820,0,2821:127	0|0:143,0:143:99:0,429,4714:127
1	203137784	.	A	ACT	24985.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs35823777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35823777" target="_blank">rs35823777</a>;ExAC.Info.AC=80760;ExAC.Info.AN=106506;ExAC.Info.AF=0.758;ExAC.Info.AC_Het=4762;ExAC.Info.AC_Hom=11505;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2;snpeff.Amino_Acid_Change=c.*2_*3insAG;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=MYBPH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPH" target="_blank">MYBPH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255416;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000255416;SAVANT_GENE=MYBPH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPH" target="_blank">MYBPH</a>;SAVANT_INFO=-/8.0kb/11/1.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1_*2dupAG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPH+c.*1_*2dupAG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203137784">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2896,198,0:127	1|1:0,83:83:99:3725,258,0:127	1|1:0,72:72:99:3385,229,0:127
1	203148633	.	A	G	12670.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4950927;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4950927" target="_blank">rs4950927</a>;ExAC.Info.AC=126404;ExAC.Info.AN=126590;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=151;ExAC.Info.AC_Hom=61156;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1092A>G;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255409;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1092A>G;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255409;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1092A>G;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255409;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys364Cys/c.1092T>C;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255409;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000255409;SAVANT_GENE=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;SAVANT_INFO=-/7.8kb/10/1.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1092T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L1+c.1092T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203148633">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1275,108,0:127	1|1:0,60:60:99:1940,180,0:127	1|1:0,47:47:99:1626,141,0:127
1	203152801	.	T	C	28525.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs880633;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=880633" target="_blank">rs880633</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Cystic_fibrosis_lung_disease|_modifier_of;hgmd_2014.2.OMIM_ID=601525;hgmd_2014.2.PubMed=21949714;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21949714" target="_blank">21949714</a>;ExAC.Info.AC=57832;ExAC.Info.AN=126704;ExAC.Info.AF=0.456;ExAC.Info.AC_Het=29656;ExAC.Info.AC_Hom=14079;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.433T>C;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255409;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg145Gly/c.433A>G;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255409;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000255409;SAVANT_GENE=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;SAVANT_INFO=-/7.8kb/10/1.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.433A>G_p.Arg145Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L1+c.433A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203152801">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,156:156:99:5445,468,0:127	1|0:76,82:158:99:2283,0,2093:127	1|1:0,104:104:99:3813,313,0:127
1	203154532	.	A	G	18873.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1538372;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1538372" target="_blank">rs1538372</a>;ExAC.Info.AC=82925;ExAC.Info.AN=126702;ExAC.Info.AF=0.654;ExAC.Info.AC_Het=28518;ExAC.Info.AC_Hom=27120;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.56-19T>C;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255409;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56A>G;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255409;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56A>G;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56A>G;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000255409;SAVANT_GENE=CHI3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHI3L1" target="_blank">CHI3L1</a>;SAVANT_INFO=-/7.8kb/10/1.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.56-19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHI3L1+c.56-19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203154532">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2750,213,0:127	1|0:48,46:94:99:1518,0,1475:127	1|1:0,101:101:99:3687,304,0:127
1	203155882	.	G	C	20266.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4950928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4950928" target="_blank">rs4950928</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Schizophrenia|_association_with;hgmd_2014.2.OMIM_ID=601525;hgmd_2014.2.PubMed=17160890;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17160890" target="_blank">17160890</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17160890" target="_blank">17160890</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203155882">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2867,240,0:127	1|1:0,85:85:99:3048,255,0:127	1|1:0,82:82:99:2939,246,0:127
1	203174921	.	A	G	1312.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2486951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2486951" target="_blank">rs2486951</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2486951" target="_blank">rs2486951</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203174921">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1060:92	0|1:12,20:32:99:675,0,306:92	0|0:34,0:34:99:0,102,1176:92
1	203186093	.	G	C	2136.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Chitotriosidase_deficiency]|_614122_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1065761;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1065761" target="_blank">rs1065761</a>;ExAC.Info.AC=15562;ExAC.Info.AN=126698;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=14261;ExAC.Info.AC_Hom=1023;snpeff.Effect=sequence_feature[domain:Chitin-binding_type-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1325G>C;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gGg;snpeff.Amino_Acid_Change=p.Ala442Gly/c.1325C>G;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367229;SAVANT_GENE=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;SAVANT_INFO=-/13.6kb/11/2.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1325C>G_p.Ala442Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIT1+c.1325C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203186093">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,204,2362:127	0|0:105,0:105:99:0,315,3560:127	0|1:44,37:81:99:1087,0,1337:127
1	203186950	.	C	CAGACCATGGCCCCGCCCAGTCCCT	1579.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=[Chitotriosidase_deficiency]|_614122_(3);dbSNP139.ID=rs150192398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150192398" target="_blank">rs150192398</a>;ExAC.Info.AC=29016;ExAC.Info.AN=126704;ExAC.Info.AF=0.229;ExAC.Info.AC_Het=19906;ExAC.Info.AC_Hom=3944;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072_1073insAGACCATGGCCCCGCCCAGTCCCT;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[binding_site:Chitooligosaccharide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072_1073insAGACCATGGCCCCGCCCAGTCCCT;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072_1073insAGACCATGGCCCCGCCCAGTCCCT;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072_1073insAGACCATGGCCCCGCCCAGTCCCT;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained+inframe_insertion;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=tgg/tAGGGACTGGGCGGGGCCATGGTCTgg;snpeff.Amino_Acid_Change=p.Trp358_Ala359insTerGlyLeuGlyGlyAlaMetValTrp/c.1072_1073insAGGGACTGGGCGGGGCCATGGTCT;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;LOF=(CHIT1|ENSG00000133063|1|1.00);NMD=(CHIT1|ENSG00000133063|1|1.00);TYPE=Insertion;SAVANT_ENST=ENST00000367229;SAVANT_GENE=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;SAVANT_INFO=-/13.6kb/11/2.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1049_1072dup24_p.Trp358X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIT1+c.1049_1072dup24+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203186950">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,161,2317:100	0|1:18,16:34:99:813,0,712:100	0|0:31,0:31:99:0,101,1403:100
1	203187341	.	T	TGGTCAA	1723.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=[Chitotriosidase_deficiency]|_614122_(3);dbSNP139.ID=rs142759151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142759151" target="_blank">rs142759151</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1030-348_1030-349insTTGACC;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030_1031insGGTCAA;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030_1031insGGTCAA;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030_1031insGGTCAA;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030_1031insGGTCAA;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367229;SAVANT_GENE=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;SAVANT_INFO=-/13.6kb/11/2.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1030-354_1030-349dup6;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIT1+c.1030-354_1030-349dup6+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203187341">View</a>	GT:AD:DP:GQ:PL:TP	0|0:22,0:22:67:0,67,1597:66	0|1:18,23:41:99:885,0,1267:66	0|0:33,0:33:99:0,100,2366:66
1	203192448	.	GC	G	2723.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=[Chitotriosidase_deficiency]|_614122_(3);dbSNP139.ID=rs3216011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3216011" target="_blank">rs3216011</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.481-62delG;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481delC;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481delC;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367229;SAVANT_GENE=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;SAVANT_INFO=-/13.6kb/11/2.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.481-62delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIT1+c.481-62delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203192448">View</a>	GT:AD:DP:GQ:PL:TP	0|0:114,0:114:99:0,343,3831:127	0|1:73,51:124:99:1385,0,2098:127	0|0:120,0:120:99:0,361,4038:127
1	203194186	.	C	T	1020.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Chitotriosidase_deficiency]|_614122_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2297950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297950" target="_blank">rs2297950</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Colorectal_cancer|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=600031;hgmd_2014.2.PubMed=17000706;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17000706" target="_blank">17000706</a>;ExAC.Info.AC=38379;ExAC.Info.AN=126704;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=26831;ExAC.Info.AC_Hom=5701;Clinvar.ClinicalSignificance=Pathogenic;Clinvar.RCVaccession=RCV000010134;Clinvar.PhenotypeIDs=MedGen:C3279902|OMIM:614122;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly102Ser/c.304G>A;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367229;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367229;SAVANT_GENE=CHIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHIT1" target="_blank">CHIT1</a>;SAVANT_INFO=-/13.6kb/11/2.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.304G>A_p.Gly102Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHIT1+c.304G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203194186">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010134" target="_blank">Pathogenic</a> 	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1852:127	0|0:57,0:57:99:0,171,2014:127	0|1:24,16:40:99:529,0,743:127
1	203276437	.	C	T	2243.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=248;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61749326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61749326" target="_blank">rs61749326</a>;ExAC.Info.AC=783;ExAC.Info.AN=126704;ExAC.Info.AF=6.180e-03;ExAC.Info.AC_Het=769;ExAC.Info.AC_Hom=7;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp116Asp/c.348C>T;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=BTG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTG2" target="_blank">BTG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000290551;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000290551;SAVANT_GENE=BTG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTG2" target="_blank">BTG2</a>;SAVANT_INFO=+/4.1kb/2/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.348C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTG2+c.348C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203276437">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2742:127	0|1:43,39:82:99:1160,0,1303:127	0|0:85,0:85:99:0,255,2952:127
1	203317162	.	C	T	36489.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=437;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7543148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7543148" target="_blank">rs7543148</a>;ExAC.Info.AC=95981;ExAC.Info.AN=126662;ExAC.Info.AF=0.758;ExAC.Info.AC_Het=20297;ExAC.Info.AC_Hom=37220;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.237C>T;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=FMOD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMOD" target="_blank">FMOD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354955;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LRRNT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.237C>T;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=FMOD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMOD" target="_blank">FMOD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354955;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu79Glu/c.237G>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=FMOD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMOD" target="_blank">FMOD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354955;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354955;SAVANT_GENE=FMOD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMOD" target="_blank">FMOD</a>;SAVANT_INFO=-/10.9kb/3/3.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.237G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMOD+c.237G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203317162">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4556,397,0:127	1|1:0,170:170:99:6126,511,0:127	1|1:0,135:135:99:4875,406,0:127
1	203452409	.	G	A	8217.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41313926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41313926" target="_blank">rs41313926</a>;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly33Arg/c.97G>A;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=PRELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRELP" target="_blank">PRELP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343110;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343110;SAVANT_GENE=PRELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRELP" target="_blank">PRELP</a>;SAVANT_INFO=+/15.5kb/3/5.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.97G>A_p.Gly33Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRELP+c.97G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203452409">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,50:88:99:1503,0,1090:127	1|0:68,50:118:99:1507,0,1995:127	0|0:92,0:92:99:0,276,3029:127
1	203452720	.	C	T	12765.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=560;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2233725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2233725" target="_blank">rs2233725</a>;ExAC.Info.AC=2155;ExAC.Info.AN=126704;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=2081;ExAC.Info.AC_Hom=37;snpeff.Effect=sequence_feature[repeat:LRR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408C>T;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=PRELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRELP" target="_blank">PRELP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343110;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn136Asn/c.408C>T;snpeff.Amino_Acid_length=382;snpeff.Gene_Name=PRELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRELP" target="_blank">PRELP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343110;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343110;SAVANT_GENE=PRELP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRELP" target="_blank">PRELP</a>;SAVANT_INFO=+/15.5kb/3/5.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.408C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRELP+c.408C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203452720">View</a>	GT:AD:DP:GQ:PL:TP	0|1:101,91:192:99:2324,0,2950:127	1|0:103,100:203:99:2851,0,3074:127	0|0:165,0:165:99:0,496,5957:127
1	203465396	.	T	C	29573.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2242199;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2242199" target="_blank">rs2242199</a>;ExAC.Info.AC=50152;ExAC.Info.AN=126646;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=28993;ExAC.Info.AC_Hom=9763;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.231+32T>C;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=OPTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTC" target="_blank">OPTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367222;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367222;SAVANT_GENE=OPTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTC" target="_blank">OPTC</a>;SAVANT_INFO=+/14.7kb/8/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.231+32T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTC+c.231+32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203465396">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:3940,337,0:127	1|1:0,130:130:99:4349,391,0:127	1|1:0,131:131:99:4400,394,0:127
1	203471963	.	T	C	9145.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72743636;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72743636" target="_blank">rs72743636</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.733-79T>C;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=OPTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTC" target="_blank">OPTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367222;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367222;SAVANT_GENE=OPTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTC" target="_blank">OPTC</a>;SAVANT_INFO=+/14.7kb/8/1.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.733-79T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTC+c.733-79T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203471963">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,60:114:99:1975,0,1456:127	1|0:75,62:137:99:1958,0,2143:127	0|0:116,1:117:99:0,341,4041:127
1	203472119	.	G	A	14818.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=801;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72743637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72743637" target="_blank">rs72743637</a>;ExAC.Info.AC=2082;ExAC.Info.AN=126672;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=2013;ExAC.Info.AC_Hom=32;snpeff.Effect=sequence_feature[repeat:LRR_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.810G>A;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=OPTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTC" target="_blank">OPTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367222;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.810G>A;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=OPTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTC" target="_blank">OPTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367222;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu270Leu/c.810G>A;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=OPTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTC" target="_blank">OPTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367222;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367222;SAVANT_GENE=OPTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTC" target="_blank">OPTC</a>;SAVANT_INFO=+/14.7kb/8/1.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.810G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTC+c.810G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203472119">View</a>	GT:AD:DP:GQ:PL:TP	0|1:145,97:242:99:2477,0,4197:127	1|0:143,141:284:99:3747,0,4242:127	0|0:274,1:275:99:0,816,9735:127
1	203472942	.	C	T	9950.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56073037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56073037" target="_blank">rs56073037</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*25+69C>T;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=OPTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTC" target="_blank">OPTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367222;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367222;SAVANT_GENE=OPTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTC" target="_blank">OPTC</a>;SAVANT_INFO=+/14.7kb/8/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*94C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTC+c.*94C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203472942">View</a>	GT:AD:DP:GQ:PL:TP	0|1:81,69:150:99:1831,0,2162:127	1|0:81,75:156:99:2145,0,2189:127	0|0:127,0:127:99:0,381,4109:127
1	203652444	.	A	G	18722.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=399;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1419114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1419114" target="_blank">rs1419114</a>;ExAC.Info.AC=110922;ExAC.Info.AN=126704;ExAC.Info.AF=0.875;ExAC.Info.AC_Het=13086;ExAC.Info.AC_Hom=48912;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.111A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.111A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser37Ser/c.111A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357681;SAVANT_GENE=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;SAVANT_INFO=+/117.5kb/21/9.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.111A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP2B4+c.111A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203652444">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,60:125:99:1659,0,1855:127	1|1:0,146:146:99:5280,439,0:127	0|1:72,56:128:99:1622,0,2240:127
1	203667409	.	T	C	24352.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=479;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2228445;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228445" target="_blank">rs2228445</a>;ExAC.Info.AC=111476;ExAC.Info.AN=126704;ExAC.Info.AF=0.880;ExAC.Info.AC_Het=12884;ExAC.Info.AC_Hom=49295;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.318T>C;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu106Leu/c.318T>C;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357681;SAVANT_GENE=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;SAVANT_INFO=+/117.5kb/21/9.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.318T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP2B4+c.318T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203667409">View</a>	GT:AD:DP:GQ:PL:TP	0|1:90,78:168:99:2584,0,2430:127	1|1:0,161:161:99:6044,484,0:127	0|1:71,79:150:99:2472,0,1967:127
1	203669371	.	G	A	4198.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=473;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2228446;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228446" target="_blank">rs2228446</a>;ExAC.Info.AC=1375;ExAC.Info.AN=126704;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1351;ExAC.Info.AC_Hom=11;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.687G>A;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly229Gly/c.687G>A;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357681;SAVANT_GENE=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;SAVANT_INFO=+/117.5kb/21/9.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.687G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP2B4+c.687G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203669371">View</a>	GT:AD:DP:GQ:PL:TP	0|0:176,0:176:99:0,528,5781:127	0|1:86,80:166:99:2118,0,2524:127	0|0:131,0:131:99:0,393,4374:127
1	203679934	.	A	G	1528.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2032018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2032018" target="_blank">rs2032018</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1800-71A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1800A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357681;SAVANT_GENE=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;SAVANT_INFO=+/117.5kb/21/9.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1800-71A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP2B4+c.1800-71A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203679934">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1490:127	0|1:32,26:58:99:783,0,938:127	0|0:59,0:59:99:0,177,1989:127
1	203709034	.	A	G	6654.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=755;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs955865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=955865" target="_blank">rs955865</a>;ExAC.Info.AC=70997;ExAC.Info.AN=125626;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=25971;ExAC.Info.AC_Hom=18001;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=52;snpeff.Amino_Acid_Change=c.*52A>G;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357681;SAVANT_GENE=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;SAVANT_INFO=+/117.5kb/21/9.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*52A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP2B4+c.*52A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203709034">View</a>	GT:AD:DP:GQ:PL:TP	0|0:239,0:239:99:0,718,8095:127	0|1:167,111:278:99:3346,0,4946:127	0|0:238,0:238:99:0,715,8379:127
1	203709068	.	T	C	6704.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=775;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs955866;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=955866" target="_blank">rs955866</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=86;snpeff.Amino_Acid_Change=c.*86T>C;snpeff.Amino_Acid_length=1205;snpeff.Gene_Name=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357681;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357681;SAVANT_GENE=ATP2B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2B4" target="_blank">ATP2B4</a>;SAVANT_INFO=+/117.5kb/21/9.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*86T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP2B4+c.*86T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203709068">View</a>	GT:AD:DP:GQ:PL:TP	0|0:239,0:239:99:0,718,7986:127	0|1:168,123:291:99:3371,0,5112:127	0|0:245,0:245:99:0,736,8654:127
1	203740462	.	G	A	4957.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3820195;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820195" target="_blank">rs3820195</a>;ExAC.Info.AC=23222;ExAC.Info.AN=126698;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=14789;ExAC.Info.AC_Hom=4210;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.200-33G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442561;SAVANT_GENE=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;SAVANT_INFO=+/10.9kb/5/3.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.200-33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAX1+c.200-33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203740462">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,18:31:99:741,0,641:99	1|0:33,25:58:99:937,0,1602:99	0|0:33,0:33:99:0,99,1876:99
1	203740615	.	T	C	5442.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3737976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737976" target="_blank">rs3737976</a>;ExAC.Info.AC=63184;ExAC.Info.AN=126704;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=28503;ExAC.Info.AC_Hom=17325;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.310+10T>C;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311T>C;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311T>C;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311T>C;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311T>C;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442561;SAVANT_GENE=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;SAVANT_INFO=+/10.9kb/5/3.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.310+10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAX1+c.310+10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203740615">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,38:67:99:1226,0,661:127	0|0:82,0:82:99:0,246,2785:127	1|0:29,39:68:99:1048,0,821:127
1	203743122	.	G	A	6996.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=350;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3820194;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820194" target="_blank">rs3820194</a>;ExAC.Info.AC=38954;ExAC.Info.AN=126704;ExAC.Info.AF=0.307;ExAC.Info.AC_Het=26417;ExAC.Info.AC_Hom=6256;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.510G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.510G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.510G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.510G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser170Ser/c.510G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442561;SAVANT_GENE=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;SAVANT_INFO=+/10.9kb/5/3.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.510G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAX1+c.510G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203743122">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,298,3398:127	0|1:79,66:145:99:1926,0,2352:127	0|1:50,56:106:99:1592,0,1423:127
1	203743653	.	C	T	4568.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3766748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766748" target="_blank">rs3766748</a>;ExAC.Info.AC=38670;ExAC.Info.AN=126704;ExAC.Info.AF=0.305;ExAC.Info.AC_Het=26283;ExAC.Info.AC_Hom=6188;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp347Asp/c.1041C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442561;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000442561;SAVANT_GENE=LAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAX1" target="_blank">LAX1</a>;SAVANT_INFO=+/10.9kb/5/3.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1041C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAX1+c.1041C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203743653">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2551:127	0|1:56,45:101:99:1180,0,1576:127	0|1:50,42:92:99:1124,0,1463:127
1	203767803	.	G	A	5064.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=586;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77585755;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77585755" target="_blank">rs77585755</a>;ExAC.Info.AC=10;ExAC.Info.AN=18150;ExAC.Info.AF=5.510e-04;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZC3H11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val385Ile/c.1153G>A;snpeff.Amino_Acid_length=979;snpeff.Gene_Name=ZBED6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000550078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000550078;SAVANT_GENE=ZBED6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBED6" target="_blank">ZBED6</a>;SAVANT_INFO=+/4.3kb/1/4.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1153G>A_p.Val385Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBED6+c.1153G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203767803">View</a>	GT:AD:DP:GQ:PL:TP	0|0:190,0:190:99:0,571,6736:127	0|0:199,0:199:99:0,597,7181:127	0|1:109,88:197:99:2551,0,3354:127
1	203768328	.	T	C	17937.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=791;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7552670;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7552670" target="_blank">rs7552670</a>;ExAC.Info.AC=2325;ExAC.Info.AN=17194;ExAC.Info.AF=0.135;ExAC.Info.AC_Het=1802;ExAC.Info.AC_Hom=197;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZC3H11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe560Leu/c.1678T>C;snpeff.Amino_Acid_length=979;snpeff.Gene_Name=ZBED6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000550078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000550078;SAVANT_GENE=ZBED6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBED6" target="_blank">ZBED6</a>;SAVANT_INFO=+/4.3kb/1/4.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1678T>C_p.Phe560Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBED6+c.1678T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203768328">View</a>	GT:AD:DP:GQ:PL:TP	0|1:117,110:227:99:3398,0,3340:127	1|0:144,147:291:99:4406,0,4182:127	0|0:273,0:273:99:0,818,9386:127
1	203769532	.	G	A	3299.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7540041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7540041" target="_blank">rs7540041</a>;ExAC.Info.AC=2288;ExAC.Info.AN=16796;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=1769;ExAC.Info.AC_Hom=196;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=16667;snpeff.Amino_Acid_Change=c.-2758G>A;snpeff.Amino_Acid_length=810;snpeff.Gene_Name=ZC3H11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545588;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser961Asn/c.2882G>A;snpeff.Amino_Acid_length=979;snpeff.Gene_Name=ZBED6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000550078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000550078:ENST00000545588;SAVANT_GENE=ZBED6:ZC3H11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBED6:ZC3H11A" target="_blank">ZBED6:ZC3H11A</a>;SAVANT_INFO=+/4.3kb/1/4.3kb:+/54.8kb/17/8.0kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.2882G>A_p.Ser961Asn:c.-16667G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBED6:ZC3H11A+c.2882G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203769532">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,22:50:99:594,0,820:127	1|0:20,30:50:99:829,0,634:127	0|0:46,0:46:99:0,138,1729:127
1	203803016	.	A	G	13039.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6694647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6694647" target="_blank">rs6694647</a>;ExAC.Info.AC=125879;ExAC.Info.AN=126682;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=742;ExAC.Info.AC_Hom=62360;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.874+35A>G;snpeff.Amino_Acid_length=810;snpeff.Gene_Name=ZC3H11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545588;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545588;SAVANT_GENE=ZC3H11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;SAVANT_INFO=+/54.8kb/17/8.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.874+35A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZC3H11A+c.874+35A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203803016">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1301,111,0:127	1|1:0,68:68:99:2470,204,0:127	1|1:0,47:47:99:1730,141,0:127
1	203819177	.	T	C	5844.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11808915;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11808915" target="_blank">rs11808915</a>;ExAC.Info.AC=24591;ExAC.Info.AN=126376;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=19205;ExAC.Info.AC_Hom=2450;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1939+23T>C;snpeff.Amino_Acid_length=810;snpeff.Gene_Name=ZC3H11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545588;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545588;SAVANT_GENE=ZC3H11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;SAVANT_INFO=+/54.8kb/17/8.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1939+23T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZC3H11A+c.1939+23T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203819177">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2535:127	0|1:52,51:103:99:1557,0,1399:127	0|1:46,49:95:99:1385,0,1202:127
1	203821314	.	G	A	5772.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=337;MQ=66.76;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs41264265;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264265" target="_blank">rs41264265</a>;ExAC.Info.AC=24522;ExAC.Info.AN=126422;ExAC.Info.AF=0.194;ExAC.Info.AC_Het=19265;ExAC.Info.AC_Hom=2460;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro740Pro/c.2220G>A;snpeff.Amino_Acid_length=810;snpeff.Gene_Name=ZC3H11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545588;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545588;SAVANT_GENE=ZC3H11A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11A" target="_blank">ZC3H11A</a>;SAVANT_INFO=+/54.8kb/17/8.0kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2220G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZC3H11A+c.2220G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:203821314">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,276,3060:127	0|1:70,50:120:99:1446,0,1946:127	0|1:73,52:125:99:1460,0,1981:127
1	204006597	.	G	A	2392.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=65;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4951039;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4951039" target="_blank">rs4951039</a>;ExAC.Info.AC=107943;ExAC.Info.AN=124504;ExAC.Info.AF=0.867;ExAC.Info.AC_Het=13566;ExAC.Info.AC_Hom=46382;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.424C>T;snpeff.Gene_Name=LINC00303;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00303" target="_blank">LINC00303</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000367207;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00303" target="_blank">LINC00303</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=LINC00303+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204006597">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,7:18:99:219,0,330:59	0|0:27,0:27:81:0,81,949:59	1|1:0,20:20:60:808,60,0:59
1	204085609	.	A	G	23651.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=470;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7551756;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7551756" target="_blank">rs7551756</a>;ExAC.Info.AC=47235;ExAC.Info.AN=124972;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=27608;ExAC.Info.AC_Hom=9761;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.419-26A>G;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=SOX13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX13" target="_blank">SOX13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367204;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367204;SAVANT_GENE=SOX13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX13" target="_blank">SOX13</a>;SAVANT_INFO=+/54.1kb/14/3.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.419-26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SOX13+c.419-26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204085609">View</a>	GT:AD:DP:GQ:PL:TP	0|1:76,71:147:99:2164,0,2054:127	1|1:2,184:186:99:6750,504,0:127	0|1:71,66:137:99:1899,0,1957:127
1	204095220	.	C	T	6864.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1064981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1064981" target="_blank">rs1064981</a>;ExAC.Info.AC=1898;ExAC.Info.AN=125900;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1852;ExAC.Info.AC_Hom=26;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly609Gly/c.1827C>T;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=SOX13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX13" target="_blank">SOX13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367204;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367204;SAVANT_GENE=SOX13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX13" target="_blank">SOX13</a>;SAVANT_INFO=+/54.1kb/14/3.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1827C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SOX13+c.1827C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204095220">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,49:90:99:1325,0,998:127	0|0:122,0:122:99:0,366,4174:127	1|0:44,35:79:99:1030,0,1315:127
1	204110334	.	A	G	28636.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10793755;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10793755" target="_blank">rs10793755</a>;ExAC.Info.AC=121806;ExAC.Info.AN=126142;ExAC.Info.AF=0.966;ExAC.Info.AC_Het=3397;ExAC.Info.AC_Hom=52628;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.784+109T>C;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=ETNK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETNK2" target="_blank">ETNK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367201;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367202;SAVANT_GENE=ETNK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETNK2" target="_blank">ETNK2</a>;SAVANT_INFO=-/20.9kb/8/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.784+109T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ETNK2+c.784+109T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204110334">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3411,303,0:127	1|1:0,141:141:99:4584,423,0:127	1|1:0,109:109:99:3606,327,0:127
1	204115934	.	C	T	2306.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2293337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2293337" target="_blank">rs2293337</a>;ExAC.Info.AC=34522;ExAC.Info.AN=126450;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=23958;ExAC.Info.AC_Hom=4763;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.519-42G>A;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=ETNK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETNK2" target="_blank">ETNK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367201;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367202;SAVANT_GENE=ETNK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETNK2" target="_blank">ETNK2</a>;SAVANT_INFO=-/20.9kb/8/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.519-42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ETNK2+c.519-42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204115934">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1941:127	0|1:37,39:76:99:1172,0,1098:127	0|0:61,0:61:99:0,183,2155:127
1	204120952	.	G	T	19500.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3737655;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737655" target="_blank">rs3737655</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=3529;ExAC.Info.AN=62766;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=323;ExAC.Info.AC_Hom=28;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cAg;snpeff.Amino_Acid_Change=p.Pro10Gln/c.29C>A;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=ETNK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETNK2" target="_blank">ETNK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367201;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367202;SAVANT_GENE=ETNK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ETNK2" target="_blank">ETNK2</a>;SAVANT_INFO=-/20.9kb/8/2.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.29C>A_p.Pro10Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ETNK2+c.29C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204120952">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2837,238,0:127	1|0:55,42:97:99:1227,0,1637:127	1|1:0,88:88:99:3039,264,0:127
1	204124370	.	AC	A	6322.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=[Hyperproreninemia]_(3)|_Renal_tubular_dysgenesis|_267430_(3)|_Hyperuricemic_nephropathy|_familial_juvenile_2|_613092_(3);dbSNP139.ID=rs11571092;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11571092" target="_blank">rs11571092</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1060-66delG;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1060delC;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1060delC;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000272190;SAVANT_GENE=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;SAVANT_INFO=-/11.5kb/10/1.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1060-66delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=REN+c.1060-66delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204124370">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,21:21:63:682,63,0:62	1|0:17,14:31:99:364,0,444:62	1|1:0,41:41:99:1340,123,0:62
1	204124865	.	C	T	10816.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=[Hyperproreninemia]_(3)|_Renal_tubular_dysgenesis|_267430_(3)|_Hyperuricemic_nephropathy|_familial_juvenile_2|_613092_(3);dbSNP139.ID=rs2368564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2368564" target="_blank">rs2368564</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1059+83G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1060C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1060C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272190;SAVANT_GENE=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;SAVANT_INFO=-/11.5kb/10/1.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1059+83G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=REN+c.1059+83G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204124865">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2078,168,0:127	1|0:23,27:50:99:838,0,771:127	1|1:0,54:54:99:1846,162,0:127
1	204125089	.	G	A	19194.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=[Hyperproreninemia]_(3)|_Renal_tubular_dysgenesis|_267430_(3)|_Hyperuricemic_nephropathy|_familial_juvenile_2|_613092_(3);dbSNP139.ID=rs3795575;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795575" target="_blank">rs3795575</a>;ExAC.Info.AC=16872;ExAC.Info.AN=126660;ExAC.Info.AF=0.133;ExAC.Info.AC_Het=14246;ExAC.Info.AC_Hom=1153;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.961-43C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272190;SAVANT_GENE=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;SAVANT_INFO=-/11.5kb/10/1.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.961-43C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=REN+c.961-43C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204125089">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3496,313,0:127	1|0:60,48:108:99:1418,0,1841:127	1|1:0,95:95:99:3419,286,0:127
1	204128832	.	C	T	3701.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=[Hyperproreninemia]_(3)|_Renal_tubular_dysgenesis|_267430_(3)|_Hyperuricemic_nephropathy|_familial_juvenile_2|_613092_(3);dbSNP139.ID=rs11571084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11571084" target="_blank">rs11571084</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.493-109G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272190;SAVANT_GENE=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;SAVANT_INFO=-/11.5kb/10/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.493-109G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=REN+c.493-109G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204128832">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,24:61:99:601,0,1125:127	1|0:27,34:61:99:982,0,878:127	0|0:57,0:57:99:0,171,2094:127
1	204128854	.	T	G	9199.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=[Hyperproreninemia]_(3)|_Renal_tubular_dysgenesis|_267430_(3)|_Hyperuricemic_nephropathy|_familial_juvenile_2|_613092_(3);dbSNP139.ID=rs1464816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1464816" target="_blank">rs1464816</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.493-131A>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493T>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493T>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272190;SAVANT_GENE=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;SAVANT_INFO=-/11.5kb/10/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.493-131A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=REN+c.493-131A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204128854">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1478,123,0:122	1|0:22,25:47:99:761,0,610:122	1|1:0,45:45:99:1584,135,0:122
1	204131031	.	C	T	19316.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=[Hyperproreninemia]_(3)|_Renal_tubular_dysgenesis|_267430_(3)|_Hyperuricemic_nephropathy|_familial_juvenile_2|_613092_(3);dbSNP139.ID=rs11571082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11571082" target="_blank">rs11571082</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.249+110G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.250C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.250C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272190;SAVANT_GENE=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;SAVANT_INFO=-/11.5kb/10/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.249+110G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=REN+c.249+110G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204131031">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2279,213,0:127	1|0:73,64:137:99:1754,0,2263:127	1|1:0,98:98:99:3303,294,0:127
1	204131186	.	T	G	30216.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=[Hyperproreninemia]_(3)|_Renal_tubular_dysgenesis|_267430_(3)|_Hyperuricemic_nephropathy|_familial_juvenile_2|_613092_(3);dbSNP139.ID=rs5705;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5705" target="_blank">rs5705</a>;ExAC.Info.AC=17767;ExAC.Info.AN=126702;ExAC.Info.AF=0.140;ExAC.Info.AC_Het=14760;ExAC.Info.AC_Hom=1473;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acC;snpeff.Amino_Acid_Change=p.Thr68Thr/c.204A>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272190;SAVANT_GENE=REN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REN" target="_blank">REN</a>;SAVANT_INFO=-/11.5kb/10/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.204A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=REN+c.204A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204131186">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:4001,354,0:127	1|0:101,83:184:99:2402,0,3039:127	1|1:0,138:138:99:5152,415,0:127
1	204159537	.	T	TTG	2388.29	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=39;MQ=70.11;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_13_with_or_without_anosmia|_614842_(3);dbSNP139.ID=rs200451423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200451423" target="_blank">rs200451423</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=74;snpeff.Amino_Acid_Change=c.*74_*75insCA;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=KISS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KISS1" target="_blank">KISS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367194;SAVANT_GENE=KISS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KISS1" target="_blank">KISS1</a>;SAVANT_INFO=-/6.1kb/3/0.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*74_*75insCA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KISS1+c.*74_*75insCA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204159537">View</a>	GT:AD:DP:GQ:PL:TP	1|0:3,8:11:12:327,0,12:12	0|1:13,4:17:99:122,0,868:12	1|1:0,11:11:33:488,33,0:12
1	204159541	.	CG	C	1953.32	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=31;MQ=70.14;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_13_with_or_without_anosmia|_614842_(3);dbSNP139.ID=rs201464641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201464641" target="_blank">rs201464641</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=70;snpeff.Amino_Acid_Change=c.*70delC;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=KISS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KISS1" target="_blank">KISS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367194;SAVANT_GENE=KISS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KISS1" target="_blank">KISS1</a>;SAVANT_INFO=-/6.1kb/3/0.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*70delC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KISS1+c.*70delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204159541">View</a>	GT:AD:DP:GQ:PL:TP	1|0:3,8:11:12:327,0,12:12	0|1:10,3:13:90:90,0,832:12	1|1:0,7:7:24:360,24,0:12
1	204159787	.	G	C	3712.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_13_with_or_without_anosmia|_614842_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4889" target="_blank">rs4889</a>;ExAC.Info.AC=28001;ExAC.Info.AN=115932;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=12522;ExAC.Info.AC_Hom=2436;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cGc;snpeff.Amino_Acid_Change=p.Pro81Arg/c.242C>G;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=KISS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KISS1" target="_blank">KISS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367194;SAVANT_GENE=KISS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KISS1" target="_blank">KISS1</a>;SAVANT_INFO=-/6.1kb/3/0.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.242C>G_p.Pro81Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KISS1+c.242C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204159787">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,26:47:99:758,0,657:127	0|0:57,0:57:99:0,172,2272:127	1|0:13,24:37:99:693,0,389:127
1	204161947	.	C	T	11596.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=473;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_13_with_or_without_anosmia|_614842_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12998" target="_blank">rs12998</a>;ExAC.Info.AC=3640;ExAC.Info.AN=124924;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=2965;ExAC.Info.AC_Hom=56;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu20Lys/c.58G>A;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=KISS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KISS1" target="_blank">KISS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367194;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367194;SAVANT_GENE=KISS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KISS1" target="_blank">KISS1</a>;SAVANT_INFO=-/6.1kb/3/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.58G>A_p.Glu20Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KISS1+c.58G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204161947">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,74:153:99:1944,0,2239:127	1|0:78,102:180:99:2897,0,2260:127	0|0:140,0:140:99:0,420,4956:127
1	204167672	.	T	C	15183.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3795573;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795573" target="_blank">rs3795573</a>;ExAC.Info.AC=17969;ExAC.Info.AN=126694;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=14968;ExAC.Info.AC_Hom=1486;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.361-48A>G;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=GOLT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLT1A" target="_blank">GOLT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308302;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.361T>C;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=GOLT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLT1A" target="_blank">GOLT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308302;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.361T>C;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=GOLT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLT1A" target="_blank">GOLT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308302;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308302;SAVANT_GENE=GOLT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLT1A" target="_blank">GOLT1A</a>;SAVANT_INFO=-/15.9kb/5/0.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.361-48A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GOLT1A+c.361-48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204167672">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2438,216,0:127	1|0:39,42:81:99:1276,0,1227:127	1|1:0,71:71:99:2479,213,0:127
1	204172060	.	G	C	3430.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6689599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6689599" target="_blank">rs6689599</a>;ExAC.Info.AC=8161;ExAC.Info.AN=126704;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=7288;ExAC.Info.AC_Hom=434;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.81G>C;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=GOLT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLT1A" target="_blank">GOLT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308302;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctG;snpeff.Amino_Acid_Change=p.Leu27Leu/c.81C>G;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=GOLT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLT1A" target="_blank">GOLT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308302;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308302;SAVANT_GENE=GOLT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLT1A" target="_blank">GOLT1A</a>;SAVANT_INFO=-/15.9kb/5/0.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.81C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GOLT1A+c.81C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204172060">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,24:38:99:757,0,431:127	0|0:60,0:60:99:0,180,2091:127	1|0:21,20:41:99:568,0,566:127
1	204172096	.	G	A	3482.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6689607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6689607" target="_blank">rs6689607</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=8099;ExAC.Info.AN=126704;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=7250;ExAC.Info.AC_Hom=419;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.45G>A;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=GOLT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLT1A" target="_blank">GOLT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308302;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr15Thr/c.45C>T;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=GOLT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLT1A" target="_blank">GOLT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308302;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308302;SAVANT_GENE=GOLT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLT1A" target="_blank">GOLT1A</a>;SAVANT_INFO=-/15.9kb/5/0.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.45C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GOLT1A+c.45C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204172096">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,27:42:99:737,0,397:127	0|0:66,0:66:99:0,198,2168:127	1|0:21,21:42:99:584,0,567:127
1	204199614	.	C	T	17056.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10900562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10900562" target="_blank">rs10900562</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=54859;ExAC.Info.AN=123804;ExAC.Info.AF=0.443;ExAC.Info.AC_Het=17271;ExAC.Info.AC_Hom=8166;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg857Lys/c.2570G>A;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2510G>A_p.Arg837Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.2510G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204199614">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2095,171,0:127	1|1:0,64:64:99:2446,192,0:127	1|1:0,57:57:99:2115,171,0:127
1	204210997	.	G	A	1394.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72749769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72749769" target="_blank">rs72749769</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2233-55C>T;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2173-55C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.2173-55C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204210997">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2534:127	0|0:103,0:103:99:0,309,3528:127	0|1:48,29:77:99:716,0,1542:127
1	204216410	.	C	T	13749.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4951329;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4951329" target="_blank">rs4951329</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1980+83G>A;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1920+83G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.1920+83G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204216410">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2502,228,0:127	1|1:0,56:56:99:2017,168,0:127	1|1:0,43:43:99:1492,129,0:127
1	204216468	.	C	T	17119.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4512713;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4512713" target="_blank">rs4512713</a>;ExAC.Info.AC=84644;ExAC.Info.AN=126694;ExAC.Info.AF=0.668;ExAC.Info.AC_Het=27313;ExAC.Info.AC_Hom=28226;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1980+25G>A;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1920+25G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.1920+25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204216468">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2613,222,0:127	1|1:0,73:73:99:2567,219,0:127	1|1:0,61:61:99:2199,183,0:127
1	204216601	.	G	A	13583.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4288652;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4288652" target="_blank">rs4288652</a>;ExAC.Info.AC=84569;ExAC.Info.AN=126700;ExAC.Info.AF=0.667;ExAC.Info.AC_Het=27390;ExAC.Info.AC_Hom=28294;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1885-13C>T;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1825-13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.1825-13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204216601">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1628,144,0:127	1|1:0,62:62:99:2132,186,0:127	1|1:0,63:63:99:2161,189,0:127
1	204219821	.	C	T	2210.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs45492294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45492294" target="_blank">rs45492294</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1585-79G>A;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1525-79G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.1525-79G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204219821">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1831:127	0|0:70,0:70:99:0,210,2429:127	0|1:37,34:71:99:1124,0,1104:127
1	204219850	.	G	A	11295.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4951331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4951331" target="_blank">rs4951331</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1585-108C>T;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1525-108C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.1525-108C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204219850">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1257,108,0:127	1|1:0,43:43:99:1606,129,0:127	1|1:0,44:44:99:1485,132,0:127
1	204230581	.	G	A	7572.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795569" target="_blank">rs3795569</a>;ExAC.Info.AC=75923;ExAC.Info.AN=126642;ExAC.Info.AF=0.600;ExAC.Info.AC_Het=28776;ExAC.Info.AC_Hom=23014;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cTa;snpeff.Amino_Acid_Change=p.Pro146Leu/c.437C>T;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.382-5C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.382-5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204230581">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1366,117,0:98	1|1:0,33:33:99:1248,99,0:98	1|0:11,24:35:99:753,0,335:98
1	204234196	.	G	GGT	8869.48	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.281-26_281-27insAC;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.281-28_281-27dupAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.281-28_281-27dupAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204234196">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,34:37:0:1100,0,0:1	0/1:5,52:57:2:1704,0,2:1	0/1:23,19:42:99:559,0,728:1
1	204234222	.	T	C	12822.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4076020;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4076020" target="_blank">rs4076020</a>;ExAC.Info.AC=88064;ExAC.Info.AN=126682;ExAC.Info.AF=0.695;ExAC.Info.AC_Het=26510;ExAC.Info.AC_Hom=30672;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.281-52A>G;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.281-52A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.281-52A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204234222">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1541,105,0:104	1|1:0,43:43:99:1958,132,0:104	1|1:0,35:35:99:1528,105,0:104
1	204234225	.	G	A	12383.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4073136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4073136" target="_blank">rs4073136</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.281-55C>T;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.281-55C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.281-55C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204234225">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:96:1419,96,0:104	1|1:0,41:41:99:1882,126,0:104	1|1:0,31:31:99:1528,105,0:104
1	204237416	.	C	T	18844.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10900571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10900571" target="_blank">rs10900571</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=86256;ExAC.Info.AN=126704;ExAC.Info.AF=0.681;ExAC.Info.AC_Het=26419;ExAC.Info.AC_Hom=29802;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val43Ile/c.127G>A;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414478;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272203;SAVANT_GENE=PLEKHA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA6" target="_blank">PLEKHA6</a>;SAVANT_INFO=-/138.7kb/23/5.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.127G>A_p.Val43Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA6+c.127G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204237416">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1962,171,0:127	1|1:0,83:83:99:2923,249,0:127	1|1:0,72:72:99:2490,216,0:127
1	204379617	.	T	C	27534.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3014626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3014626" target="_blank">rs3014626</a>;ExAC.Info.AC=125630;ExAC.Info.AN=126704;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=976;ExAC.Info.AC_Hom=62320;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.147-24848T>C;snpeff.Gene_Name=RP11-739N20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-739N202" target="_blank">RP11-739N202</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000443515;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn308Ser/c.923A>G;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=PPP1R15B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-739N202" target="_blank">RP11-739N202</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367188;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367188;SAVANT_GENE=PPP1R15B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R15B" target="_blank">PPP1R15B</a>;SAVANT_INFO=-/8.4kb/2/5.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.923A>G_p.Asn308Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPP1R15B+c.923A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204379617">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2674,216,0:127	1|1:0,118:118:99:4410,355,0:127	1|1:0,117:117:99:4545,352,0:127
1	204413297	.	C	T	24107.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2292459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292459" target="_blank">rs2292459</a>;ExAC.Info.AC=92228;ExAC.Info.AN=126704;ExAC.Info.AF=0.728;ExAC.Info.AC_Het=23326;ExAC.Info.AC_Hom=34325;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2773-7G>A;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIK_helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773C>T;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIK_helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773C>T;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIK_helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773C>T;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIK_helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773C>T;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIK_helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773C>T;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773G>A;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367187;SAVANT_GENE=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;SAVANT_INFO=-/67.8kb/34/7.7kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2773-7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3C2B+c.2773-7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204413297">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2893,196,0:127	1|1:0,79:79:99:3626,244,0:127	1|1:0,64:64:99:2867,193,0:127
1	204413299	.	G	A	24107.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2292460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292460" target="_blank">rs2292460</a>;ExAC.Info.AC=89650;ExAC.Info.AN=126704;ExAC.Info.AF=0.708;ExAC.Info.AC_Het=23439;ExAC.Info.AC_Hom=32978;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2773-9C>T;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIK_helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773G>A;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIK_helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773G>A;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIK_helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773G>A;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIK_helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773G>A;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIK_helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2773G>A;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367187;SAVANT_GENE=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;SAVANT_INFO=-/67.8kb/34/7.7kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2773-9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3C2B+c.2773-9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204413299">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2893,196,0:127	1|1:0,81:81:99:3626,244,0:127	1|1:0,62:62:99:2867,193,0:127
1	204429838	.	C	G	11095.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2271414;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271414" target="_blank">rs2271414</a>;ExAC.Info.AC=115485;ExAC.Info.AN=126652;ExAC.Info.AF=0.912;ExAC.Info.AC_Het=6850;ExAC.Info.AC_Hom=52157;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1311-49G>C;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K-RBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311C>G;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K-RBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311C>G;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K-RBD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311C>G;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367187;SAVANT_GENE=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;SAVANT_INFO=-/67.8kb/34/7.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1311-49G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3C2B+c.1311-49G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204429838">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1207,102,0:127	1|1:0,50:50:99:1769,150,0:127	1|1:0,46:46:99:1659,138,0:127
1	204438334	.	C	T	25750.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1124777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1124777" target="_blank">rs1124777</a>;ExAC.Info.AC=113068;ExAC.Info.AN=126690;ExAC.Info.AF=0.892;ExAC.Info.AC_Het=8057;ExAC.Info.AC_Hom=52304;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_GRB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.597C>T;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro199Pro/c.597G>A;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367187;SAVANT_GENE=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;SAVANT_INFO=-/67.8kb/34/7.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.597G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3C2B+c.597G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204438334">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:3105,256,0:127	1|1:0,111:111:99:4229,334,0:127	1|1:0,87:87:99:3219,261,0:127
1	204438643	.	G	T	21306.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1553921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1553921" target="_blank">rs1553921</a>;ExAC.Info.AC=112956;ExAC.Info.AN=126656;ExAC.Info.AF=0.892;ExAC.Info.AC_Het=8008;ExAC.Info.AC_Hom=51542;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_GRB2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288G>T;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctA;snpeff.Amino_Acid_Change=p.Leu96Leu/c.288C>A;snpeff.Amino_Acid_length=1634;snpeff.Gene_Name=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367187;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367187;SAVANT_GENE=PIK3C2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2B" target="_blank">PIK3C2B</a>;SAVANT_INFO=-/67.8kb/34/7.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.288C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3C2B+c.288C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204438643">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2426,225,0:127	1|1:0,95:95:99:3343,286,0:127	1|1:0,67:67:99:2390,201,0:127
1	204501383	.	C	T	10436.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=586;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4252697;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4252697" target="_blank">rs4252697</a>;ExAC.Info.AC=24170;ExAC.Info.AN=126698;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=18757;ExAC.Info.AC_Hom=2685;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.343+9C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367182;SAVANT_GENE=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;SAVANT_INFO=+/41.7kb/11/10.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.343+9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MDM4+c.343+9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204501383">View</a>	GT:AD:DP:GQ:PL:TP	0|1:101,63:164:99:1570,0,2910:127	1|0:120,89:209:99:2258,0,3509:127	0|0:213,0:213:99:0,640,7157:127
1	204506107	.	C	T	13089.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4245738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4245738" target="_blank">rs4245738</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.344-451C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367182;SAVANT_GENE=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;SAVANT_INFO=+/41.7kb/11/10.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.344-451C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MDM4+c.344-451C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204506107">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:1927,183,0:127	1|0:41,44:85:99:1165,0,1243:127	1|1:0,72:72:99:2383,216,0:127
1	204506174	.	CT	C	2686.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4252704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4252704" target="_blank">rs4252704</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.344-383delT;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367182;SAVANT_GENE=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;SAVANT_INFO=+/41.7kb/11/10.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.344-380delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MDM4+c.344-380delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204506174">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,25:55:99:679,0,842:127	1|0:29,19:48:99:473,0,831:127	0|0:43,0:43:99:0,129,1444:127
1	204507128	.	T	C	1435.71	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72753803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72753803" target="_blank">rs72753803</a>;ExAC.Info.AC=1125;ExAC.Info.AN=124276;ExAC.Info.AF=9.052e-03;ExAC.Info.AC_Het=1095;ExAC.Info.AC_Hom=6;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.412-209T>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367182;SAVANT_GENE=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;SAVANT_INFO=+/41.7kb/11/10.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.412-209T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MDM4+c.412-209T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204507128">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2102:127	0|0:64,0:64:99:0,193,2191:127	0|1:22,32:54:99:741,0,549:127
1	204516025	.	A	G	57699.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=922;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2290854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2290854" target="_blank">rs2290854</a>;ExAC.Info.AC=81868;ExAC.Info.AN=126682;ExAC.Info.AF=0.646;ExAC.Info.AC_Het=26906;ExAC.Info.AC_Hom=27317;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.903+20A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RanBP2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.904A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RanBP2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.904A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.904A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.904A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_II];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.904A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.904A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.904A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.904A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367182;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367182;SAVANT_GENE=MDM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDM4" target="_blank">MDM4</a>;SAVANT_INFO=+/41.7kb/11/10.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.903+20A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MDM4+c.903+20A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204516025">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,277:277:99:9745,832,0:127	1|0:177,186:363:99:5761,0,4882:127	1|1:0,282:282:99:10222,847,0:127
1	204587047	.	G	A	2778.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11588857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11588857" target="_blank">rs11588857</a>;ExAC.Info.AC=25224;ExAC.Info.AN=126702;ExAC.Info.AF=0.199;ExAC.Info.AC_Het=19455;ExAC.Info.AC_Hom=2859;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Tca;snpeff.Amino_Acid_Change=p.Pro692Ser/c.2074C>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367177;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367175;SAVANT_GENE=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;SAVANT_INFO=-/5.0kb/1/5.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.2074C>T_p.Pro692Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRN2+c.2074C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204587047">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,10:30:99:251,0,668:127	1|0:21,16:37:99:489,0,624:127	0|0:44,0:44:99:0,132,1624:127
1	204587240	.	G	A	5476.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3747632;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747632" target="_blank">rs3747632</a>;ExAC.Info.AC=51973;ExAC.Info.AN=126696;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=28678;ExAC.Info.AC_Hom=11311;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp627Asp/c.1881C>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367177;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367175;SAVANT_GENE=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;SAVANT_INFO=-/5.0kb/1/5.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1881C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRN2+c.1881C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204587240">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,30:51:99:808,0,619:127	0|0:67,0:67:99:0,201,2393:127	1|1:0,44:44:99:1550,132,0:127
1	204587569	.	G	C	7785.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3747631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747631" target="_blank">rs3747631</a>;ExAC.Info.AC=25267;ExAC.Info.AN=126704;ExAC.Info.AF=0.199;ExAC.Info.AC_Het=19522;ExAC.Info.AC_Hom=2846;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Gtc;snpeff.Amino_Acid_Change=p.Leu518Val/c.1552C>G;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367177;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367175;SAVANT_GENE=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;SAVANT_INFO=-/5.0kb/1/5.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1552C>G_p.Leu518Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRN2+c.1552C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204587569">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,48:100:99:1473,0,1610:127	1|0:64,53:117:99:1676,0,1817:127	0|0:93,0:93:99:0,279,3368:127
1	204587918	.	C	T	2788.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs35322898;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35322898" target="_blank">rs35322898</a>;ExAC.Info.AC=864;ExAC.Info.AN=126692;ExAC.Info.AF=6.820e-03;ExAC.Info.AC_Het=857;ExAC.Info.AC_Hom=2;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro401Pro/c.1203G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367177;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367175;SAVANT_GENE=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;SAVANT_INFO=-/5.0kb/1/5.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1203G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRN2+c.1203G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204587918">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,3840:127	0|0:138,0:138:99:0,414,4836:127	0|1:50,48:98:99:1413,0,1497:127
1	204588140	.	G	A	9229.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3747630;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747630" target="_blank">rs3747630</a>;ExAC.Info.AC=29135;ExAC.Info.AN=126688;ExAC.Info.AF=0.230;ExAC.Info.AC_Het=21587;ExAC.Info.AC_Hom=3652;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His327His/c.981C>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367177;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367175;SAVANT_GENE=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;SAVANT_INFO=-/5.0kb/1/5.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.981C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRN2+c.981C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204588140">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,57:119:99:1488,0,1947:127	1|0:56,70:126:99:2110,0,1850:127	0|0:119,0:119:99:0,358,4503:127
1	204589057	.	C	T	1394.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72753850;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72753850" target="_blank">rs72753850</a>;ExAC.Info.AC=630;ExAC.Info.AN=126642;ExAC.Info.AF=4.975e-03;ExAC.Info.AC_Het=608;ExAC.Info.AC_Hom=6;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val22Met/c.64G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367177;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367175;SAVANT_GENE=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;SAVANT_INFO=-/5.0kb/1/5.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.64G>A_p.Val22Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRN2+c.64G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204589057">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1714:127	0|1:15,25:40:99:716,0,378:127	0|0:49,0:49:99:0,147,1762:127
1	204589101	.	G	A	2453.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3789044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3789044" target="_blank">rs3789044</a>;ExAC.Info.AC=25050;ExAC.Info.AN=126320;ExAC.Info.AF=0.198;ExAC.Info.AC_Het=18158;ExAC.Info.AC_Hom=2581;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cTa;snpeff.Amino_Acid_Change=p.Pro7Leu/c.20C>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367177;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367175;SAVANT_GENE=LRRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRN2" target="_blank">LRRN2</a>;SAVANT_INFO=-/5.0kb/1/5.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.20C>T_p.Pro7Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRN2+c.20C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204589101">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,21:44:99:537,0,661:114	1|0:22,15:37:99:435,0,654:114	0|0:38,0:38:99:0,114,1360:114
1	204915393	.	A	G	11459.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2595960;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2595960" target="_blank">rs2595960</a>;ExAC.Info.AC=86973;ExAC.Info.AN=117124;ExAC.Info.AF=0.743;ExAC.Info.AC_Het=15526;ExAC.Info.AC_Hom=26742;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-47A>G;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.91+1859A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.91+1859A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204915393">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1520,144,0:78	1|1:0,54:54:99:1945,162,0:78	1|1:0,26:26:78:920,78,0:78
1	204915757	.	G	A	3522.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=485;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2595959;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2595959" target="_blank">rs2595959</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.22G>A;snpeff.Gene_Name=RP11-494K3.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494K32" target="_blank">RP11-494K32</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000452580;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.109+300G>A;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494K32" target="_blank">RP11-494K32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.91+2223G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.91+2223G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204915757">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,0:149:99:0,448,5085:127	0|0:191,0:191:99:0,573,6186:127	0|1:76,69:145:99:1780,0,2043:127
1	204917708	.	AAAAAC	A	2933.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs147883938;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147883938" target="_blank">rs147883938</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.109+2252_109+2256delAAAAC;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.92-1957_92-1953del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.92-1957_92-1953del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204917708">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,321,4731:127	0|0:97,0:97:99:0,291,4276:127	0|1:51,40:91:99:1490,0,1971:127
1	204921258	.	A	G	7547.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12141283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12141283" target="_blank">rs12141283</a>;ExAC.Info.AC=47554;ExAC.Info.AN=126690;ExAC.Info.AF=0.375;ExAC.Info.AC_Het=27372;ExAC.Info.AC_Hom=9700;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.215+14A>G;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.215+14A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.215+14A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204921258">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,48:98:99:1359,0,1290:127	0|0:112,2:114:99:0,293,3611:127	1|0:51,42:93:99:1197,0,1377:127
1	204924020	.	C	T	6376.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795564" target="_blank">rs3795564</a>;ExAC.Info.AC=1267;ExAC.Info.AN=126704;ExAC.Info.AF=1.000e-02;ExAC.Info.AC_Het=1231;ExAC.Info.AC_Hom=18;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr159Met/c.476C>T;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.476C>T_p.Thr159Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.476C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204924020">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,43:111:99:1015,0,1697:127	1|0:68,50:118:99:1352,0,1937:127	0|0:83,0:83:99:0,249,2661:127
1	204939899	.	T	C	3054.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11240319;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11240319" target="_blank">rs11240319</a>;ExAC.Info.AC=2771;ExAC.Info.AN=126700;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2432;ExAC.Info.AC_Hom=169;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1135+24T>C;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1135+24T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1135+24T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204939899">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,19:34:99:591,0,347:78	1|0:35,24:59:99:699,0,999:78	0|0:26,0:26:78:0,78,859:78
1	204939917	.	G	C	2830.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6666095;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6666095" target="_blank">rs6666095</a>;ExAC.Info.AC=2770;ExAC.Info.AN=126700;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2432;ExAC.Info.AC_Hom=167;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1135+42G>C;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1135+42G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1135+42G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204939917">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,16:33:99:481,0,474:78	1|0:34,25:59:99:698,0,967:78	0|0:26,0:26:78:0,78,861:78
1	204939935	.	T	G	78.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72751487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72751487" target="_blank">rs72751487</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1135+60T>G;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1135+60T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1135+60T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204939935">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,955:57	0|0:50,0:50:99:0,150,1634:57	0|1:20,3:23:58:58,0,559:57
1	204943285	.	A	T	11861.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2595945;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2595945" target="_blank">rs2595945</a>;ExAC.Info.AC=122858;ExAC.Info.AN=126636;ExAC.Info.AF=0.970;ExAC.Info.AC_Het=2756;ExAC.Info.AC_Hom=55765;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1280-22A>T;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1280-22A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1280-22A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204943285">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,32:82:99:826,0,1321:127	0|1:45,47:92:99:1220,0,1284:127	1|1:0,90:90:99:3043,270,0:127
1	204943992	.	A	G	4245.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=96;MQ=69.91;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2794861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794861" target="_blank">rs2794861</a>;ExAC.Info.AC=123487;ExAC.Info.AN=126690;ExAC.Info.AF=0.975;ExAC.Info.AC_Het=2704;ExAC.Info.AC_Hom=60314;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1558+41A>G;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1558+41A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1558+41A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204943992">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,13:32:99:410,0,561:87	0|1:16,19:35:99:673,0,453:87	1|1:0,29:29:87:1008,87,0:87
1	204944441	.	G	A	4271.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56223230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56223230" target="_blank">rs56223230</a>;ExAC.Info.AC=823;ExAC.Info.AN=126704;ExAC.Info.AF=6.495e-03;ExAC.Info.AC_Het=808;ExAC.Info.AC_Hom=7;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGa/aAa;snpeff.Amino_Acid_Change=p.Arg534Lys/c.1601G>A;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1601G>A_p.Arg534Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1601G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204944441">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,14:33:99:515,0,766:90	1|0:26,24:50:99:1020,0,1066:90	0|0:29,0:29:90:0,90,1384:90
1	204944454	.	G	A	4677.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55969362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55969362" target="_blank">rs55969362</a>;ExAC.Info.AC=818;ExAC.Info.AN=126704;ExAC.Info.AF=6.456e-03;ExAC.Info.AC_Het=804;ExAC.Info.AC_Hom=7;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr538Thr/c.1614G>A;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1614G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1614G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204944454">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,13:33:99:451,0,791:96	1|0:30,29:59:99:1088,0,1150:96	0|0:32,0:32:96:0,96,1448:96
1	204944536	.	A	G	6412.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55778126;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55778126" target="_blank">rs55778126</a>;ExAC.Info.AC=813;ExAC.Info.AN=126704;ExAC.Info.AF=6.417e-03;ExAC.Info.AC_Het=799;ExAC.Info.AC_Hom=7;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile566Val/c.1696A>G;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1696A>G_p.Ile566Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1696A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204944536">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,20:47:99:520,0,770:127	1|0:32,41:73:99:1281,0,885:127	0|0:54,0:54:99:0,161,1783:127
1	204945316	.	T	C	10721.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6656887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6656887" target="_blank">rs6656887</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1707-483T>C;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1707-483T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1707-483T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204945316">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:2010,147,0:127	1|0:27,19:46:99:717,0,784:127	1|1:0,44:44:99:1501,132,0:127
1	204945319	.	G	C	3643.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72753410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72753410" target="_blank">rs72753410</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1707-480G>C;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1707-480G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1707-480G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204945319">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,23:41:99:693,0,586:127	1|0:27,19:46:99:590,0,1077:127	0|0:45,0:45:99:0,135,1545:127
1	204945338	.	CTA	C	1207.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34566896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34566896" target="_blank">rs34566896</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1707-460_1707-459delTA;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1707-458_1707-457delTA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1707-458_1707-457delTA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204945338">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1513:100	0|1:14,16:30:99:627,0,519:100	0|0:34,0:34:99:0,102,1523:100
1	204945665	.	G	A	4738.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=219;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6668275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6668275" target="_blank">rs6668275</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1707-134G>A;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1707-134G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1707-134G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204945665">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,24:63:99:617,0,1127:127	0|0:93,0:93:99:0,280,4203:127	1|0:27,36:63:99:1038,0,740:127
1	204945678	.	A	AT	17526.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=229;MQ=70.02;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs58682625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58682625" target="_blank">rs58682625</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1707-120_1707-119insT;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1707-121_1707-120insT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1707-121_1707-120insT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204945678">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2807,208,0:127	1|0:61,31:92:99:925,0,2065:127	1|1:0,68:68:99:2837,205,0:127
1	204945814	.	C	T	2855.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55726173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55726173" target="_blank">rs55726173</a>;ExAC.Info.AC=817;ExAC.Info.AN=126704;ExAC.Info.AF=6.448e-03;ExAC.Info.AC_Het=803;ExAC.Info.AC_Hom=7;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp574Asp/c.1722C>T;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1722C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1722C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204945814">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,15:35:99:450,0,632:125	1|0:29,26:55:99:671,0,884:125	0|0:42,0:42:99:0,126,1415:125
1	204945934	.	A	G	4062.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs6657372;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6657372" target="_blank">rs6657372</a>;ExAC.Info.AC=11771;ExAC.Info.AN=126700;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=10327;ExAC.Info.AC_Hom=702;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1831+11A>G;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1831+11A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1831+11A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204945934">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,13:36:99:386,0,676:101	0|0:46,0:46:99:0,138,1708:101	1|1:0,34:34:99:1168,102,0:101
1	204946764	.	T	C	29457.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=428;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6663324;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6663324" target="_blank">rs6663324</a>;ExAC.Info.AC=12466;ExAC.Info.AN=124638;ExAC.Info.AF=0.100;ExAC.Info.AC_Het=10745;ExAC.Info.AC_Hom=775;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1832-45T>C;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1832-45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.1832-45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204946764">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:4084,357,0:127	1|0:104,95:199:99:2577,0,2843:127	1|1:0,110:110:99:3666,330,0:127
1	204951138	.	C	T	1536.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61741829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61741829" target="_blank">rs61741829</a>;ExAC.Info.AC=3247;ExAC.Info.AN=126506;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=2845;ExAC.Info.AC_Hom=68;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser820Ser/c.2460C>T;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2460C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.2460C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204951138">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2787:127	0|0:88,0:88:99:0,264,2954:127	0|1:27,29:56:99:787,0,787:127
1	204960362	.	C	T	9934.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72753445;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72753445" target="_blank">rs72753445</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3092+2424C>T;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2768-58C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.2768-58C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204960362">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,48:113:99:1238,0,1978:127	1|0:82,91:173:99:2409,0,2511:127	0|0:132,0:132:99:0,396,4485:127
1	204960445	.	A	G	2844.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72753447;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72753447" target="_blank">rs72753447</a>;ExAC.Info.AC=3425;ExAC.Info.AN=124872;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=3144;ExAC.Info.AC_Hom=73;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3093-2444A>G;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.2782+11A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.2782+11A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204960445">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,270,3032:127	0|0:135,0:135:99:0,406,4816:127	0|1:52,50:102:99:1441,0,1560:127
1	204966428	.	C	G	15776.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2802808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2802808" target="_blank">rs2802808</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=35927;ExAC.Info.AN=124924;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=21202;ExAC.Info.AC_Hom=4555;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atC/atG;snpeff.Amino_Acid_Change=p.Ile1078Met/c.3234C>G;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.2913C>G_p.Ile971Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.2913C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204966428">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2900,237,0:127	1|0:60,46:106:99:1283,0,1715:127	1|1:0,68:68:99:2417,204,0:127
1	204966690	.	G	A	12376.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2794858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794858" target="_blank">rs2794858</a>;ExAC.Info.AC=25347;ExAC.Info.AN=26724;ExAC.Info.AF=0.948;ExAC.Info.AC_Het=687;ExAC.Info.AC_Hom=7995;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3340+156G>A;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3019+156G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.3019+156G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204966690">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1354,111,0:123	1|1:0,41:41:99:1432,123,0:123	1|1:0,62:62:99:2269,186,0:123
1	204970243	.	A	G	1612.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4950976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4950976" target="_blank">rs4950976</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3341-55A>G;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3020-55A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.3020-55A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204970243">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,10:25:99:212,0,396:60	1|0:14,12:26:99:271,0,371:60	0|0:20,0:20:60:0,60,677:60
1	204970302	.	T	C	2195.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs4951151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4951151" target="_blank">rs4951151</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=29626;ExAC.Info.AN=124910;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=20517;ExAC.Info.AC_Hom=3165;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro1115Pro/c.3345T>C;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.3024T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.3024T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204970302">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,11:33:99:298,0,673:108	1|0:14,18:32:99:499,0,473:108	0|0:36,0:36:99:0,108,1394:108
1	204978442	.	T	TCTG	16842.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=567;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs5780258;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5780258" target="_blank">rs5780258</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3611-242_3611-241insCTG;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3290-240_3290-238dupGCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.3290-240_3290-238dupGCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204978442">View</a>	GT:AD:DP:GQ:PL:TP	0/1:103,80:183:99:1876,0,4108:127	0/1:112,109:221:99:2982,0,4395:127	0/1:78,85:163:99:2325,0,2960:127
1	204978533	.	A	G	27360.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=590;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1530745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1530745" target="_blank">rs1530745</a>;ExAC.Info.AC=85092;ExAC.Info.AN=124850;ExAC.Info.AF=0.682;ExAC.Info.AC_Het=23953;ExAC.Info.AC_Hom=28033;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3611-152A>G;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3290-152A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.3290-152A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204978533">View</a>	GT:AD:DP:GQ:PL:TP	0|1:94,99:193:99:2796,0,2909:127	1|1:0,202:202:99:7050,571,0:127	0|1:96,99:195:99:2797,0,2872:127
1	204978643	.	C	A	5594.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=640;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1530744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1530744" target="_blank">rs1530744</a>;ExAC.Info.AC=45518;ExAC.Info.AN=126696;ExAC.Info.AF=0.359;ExAC.Info.AC_Het=26515;ExAC.Info.AC_Hom=9438;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3611-42C>A;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3290-42C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.3290-42C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204978643">View</a>	GT:AD:DP:GQ:PL:TP	0|0:207,0:207:99:0,622,7355:127	0|1:116,99:215:99:2816,0,3594:127	0|0:218,0:218:99:0,655,7800:127
1	204978704	.	G	A	6256.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=706;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55678495;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55678495" target="_blank">rs55678495</a>;ExAC.Info.AC=13437;ExAC.Info.AN=126704;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=11727;ExAC.Info.AC_Hom=852;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala1210Ala/c.3630G>A;snpeff.Amino_Acid_length=1347;snpeff.Gene_Name=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367172;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339876;SAVANT_GENE=NFASC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFASC" target="_blank">NFASC</a>;SAVANT_INFO=+/194.2kb/30/10.3kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.3309G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFASC+c.3309G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:204978704">View</a>	GT:AD:DP:GQ:PL:TP	0|0:228,0:228:99:0,685,7591:127	0|1:122,111:233:99:3147,0,3405:127	0|0:245,0:245:99:0,736,8239:127
1	205027737	.	G	A	1419.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=67;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Epilepsy|_familial_adult_myoclonic|_5|_615400_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275697;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275697" target="_blank">rs2275697</a>;ExAC.Info.AC=29874;ExAC.Info.AN=126700;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=20811;ExAC.Info.AC_Hom=4429;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.433G>A;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.433G>A;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala145Thr/c.433G>A;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331830;SAVANT_GENE=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;SAVANT_INFO=+/35.3kb/23/8.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.433G>A_p.Ala145Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNTN2+c.433G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205027737">View</a>	GT:AD:DP:GQ:PL:TP	0|1:6,10:16:99:265,0,198:57	1|0:20,12:32:99:335,0,665:57	0|0:19,0:19:57:0,57,769:57
1	205031116	.	C	T	5741.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Epilepsy|_familial_adult_myoclonic|_5|_615400_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2229866;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229866" target="_blank">rs2229866</a>;ExAC.Info.AC=57797;ExAC.Info.AN=126580;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=26293;ExAC.Info.AC_Hom=15039;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1097C>T;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1097C>T;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1097C>T;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1097C>T;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1097C>T;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro366Leu/c.1097C>T;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331830;SAVANT_GENE=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;SAVANT_INFO=+/35.3kb/23/8.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1097C>T_p.Pro366Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNTN2+c.1097C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205031116">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,37:73:99:1074,0,985:127	1|0:44,36:80:99:1149,0,1438:127	0|0:71,0:71:99:0,213,2817:127
1	205033374	.	T	C	5203.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Epilepsy|_familial_adult_myoclonic|_5|_615400_(3);dbSNP139.ID=rs2305277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2305277" target="_blank">rs2305277</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1241-76T>C;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331830;SAVANT_GENE=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;SAVANT_INFO=+/35.3kb/23/8.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1241-76T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNTN2+c.1241-76T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205033374">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,22:34:99:744,0,384:127	1|0:32,41:73:99:1344,0,952:127	0|0:56,0:56:99:0,168,2134:127
1	205034434	.	G	T	4584.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Epilepsy|_familial_adult_myoclonic|_5|_615400_(3);dbSNP139.ID=rs3901740;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3901740" target="_blank">rs3901740</a>;ExAC.Info.AC=23194;ExAC.Info.AN=126694;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=16979;ExAC.Info.AC_Hom=3049;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1695+44G>T;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1696G>T;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1696G>T;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331830;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331830;SAVANT_GENE=CNTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNTN2" target="_blank">CNTN2</a>;SAVANT_INFO=+/35.3kb/23/8.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1695+44G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNTN2+c.1695+44G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205034434">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,34:68:99:922,0,1038:127	1|0:43,40:83:99:1085,0,1313:127	0|0:61,0:61:99:0,183,2368:127
1	205052939	.	G	A	15930.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4950979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4950979" target="_blank">rs4950979</a>;ExAC.Info.AC=108362;ExAC.Info.AN=126704;ExAC.Info.AF=0.855;ExAC.Info.AC_Het=14438;ExAC.Info.AC_Hom=46938;snpeff.Effect=sequence_feature[domain:Ig-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.510G>A;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=TMEM81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM81" target="_blank">TMEM81</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367167;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.510G>A;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=TMEM81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM81" target="_blank">TMEM81</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367167;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu170Leu/c.510C>T;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=TMEM81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM81" target="_blank">TMEM81</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367167;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367167;SAVANT_GENE=TMEM81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM81" target="_blank">TMEM81</a>;SAVANT_INFO=-/1.4kb/1/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.510C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM81+c.510C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205052939">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2670,228,0:127	1|1:0,90:90:99:3118,270,0:127	1|0:36,30:66:99:838,0,952:127
1	205053219	.	C	T	11865.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4951168;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4951168" target="_blank">rs4951168</a>;ExAC.Info.AC=109590;ExAC.Info.AN=126702;ExAC.Info.AF=0.865;ExAC.Info.AC_Het=13786;ExAC.Info.AC_Hom=47886;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230C>T;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=TMEM81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM81" target="_blank">TMEM81</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367167;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg77Gln/c.230G>A;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=TMEM81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM81" target="_blank">TMEM81</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367167;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367167;SAVANT_GENE=TMEM81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM81" target="_blank">TMEM81</a>;SAVANT_INFO=-/1.4kb/1/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.230G>A_p.Arg77Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM81+c.230G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205053219">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1385,111,0:110	1|1:0,55:55:99:2044,165,0:110	1|0:19,30:49:99:870,0,548:110
1	205084120	.	G	A	7671.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs7515178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7515178" target="_blank">rs7515178</a>;ExAC.Info.AC=40422;ExAC.Info.AN=120408;ExAC.Info.AF=0.336;ExAC.Info.AC_Het=12012;ExAC.Info.AC_Hom=4331;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.46-31C>T;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=RBBP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP5" target="_blank">RBBP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264515;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264515;SAVANT_GENE=RBBP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP5" target="_blank">RBBP5</a>;SAVANT_INFO=-/35.9kb/14/4.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.46-31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBBP5+c.46-31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205084120">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1327,120,0:120	1|1:0,56:56:99:1873,168,0:120	1|0:17,14:31:99:433,0,505:120
1	205090885	.	C	G	17761.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs61822619;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61822619" target="_blank">rs61822619</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19+98G>C;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=RBBP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP5" target="_blank">RBBP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264515;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264515;SAVANT_GENE=RBBP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBBP5" target="_blank">RBBP5</a>;SAVANT_INFO=-/35.9kb/14/4.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.19+98G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBBP5+c.19+98G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205090885">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:3077,249,0:127	1|1:1,77:78:99:2771,189,0:127	1|0:43,22:65:99:532,0,1288:127
1	205130413	.	A	G	10919.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3851294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3851294" target="_blank">rs3851294</a>;ExAC.Info.AC=118032;ExAC.Info.AN=126700;ExAC.Info.AF=0.932;ExAC.Info.AC_Het=7913;ExAC.Info.AC_Hom=55038;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys641Arg/c.1921T>C;snpeff.Amino_Acid_length=929;snpeff.Gene_Name=DSTYK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DSTYK" target="_blank">DSTYK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367162;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367162;SAVANT_GENE=DSTYK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DSTYK" target="_blank">DSTYK</a>;SAVANT_INFO=-/69.1kb/13/7.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1921T>C_p.Cys641Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DSTYK+c.1921T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205130413">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1131,105,0:104	1|1:0,71:71:99:2502,213,0:104	1|0:17,22:39:99:733,0,548:104
1	205210827	.	C	T	1620.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;dbSNP139.ID=rs77588763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77588763" target="_blank">rs77588763</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=5;ExAC.Info.AN=126648;ExAC.Info.AF=3.948e-05;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr134Tyr/c.402C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=TMCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCC2" target="_blank">TMCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358024;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358024;SAVANT_GENE=TMCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCC2" target="_blank">TMCC2</a>;SAVANT_INFO=+/45.2kb/5/3.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.402C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMCC2+c.402C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205210827">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,20:69:99:460,0,1461:111	0/0:74,0:74:99:0,222,2604:111	0/0:64,0:64:99:0,192,2284:111
1	205225457	.	G	A	6896.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs1172147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1172147" target="_blank">rs1172147</a>;ExAC.Info.AC=5428;ExAC.Info.AN=23360;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=3266;ExAC.Info.AC_Hom=756;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.748-12621G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=TMCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCC2" target="_blank">TMCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358024;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358024;SAVANT_GENE=TMCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCC2" target="_blank">TMCC2</a>;SAVANT_INFO=+/45.2kb/5/3.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.748-12621G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMCC2+c.748-12621G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205225457">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:999,81,0:80	1|1:0,32:32:96:1160,96,0:80	1|0:10,14:24:99:420,0,346:80
1	205238275	.	A	G	36002.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=556;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1768586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1768586" target="_blank">rs1768586</a>;ExAC.Info.AC=34605;ExAC.Info.AN=126696;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=22881;ExAC.Info.AC_Hom=5802;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala315Ala/c.945A>G;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=TMCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCC2" target="_blank">TMCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358024;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358024;SAVANT_GENE=TMCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCC2" target="_blank">TMCC2</a>;SAVANT_INFO=+/45.2kb/5/3.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.945A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMCC2+c.945A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205238275">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,163:163:99:5611,490,0:127	1|1:0,199:199:99:6670,598,0:127	1|0:105,89:194:99:2433,0,3008:127
1	205238530	.	C	T	13767.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1779411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1779411" target="_blank">rs1779411</a>;ExAC.Info.AC=33257;ExAC.Info.AN=126118;ExAC.Info.AF=0.264;ExAC.Info.AC_Het=21267;ExAC.Info.AC_Hom=5509;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly400Gly/c.1200C>T;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=TMCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCC2" target="_blank">TMCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358024;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358024;SAVANT_GENE=TMCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMCC2" target="_blank">TMCC2</a>;SAVANT_INFO=+/45.2kb/5/3.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1200C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMCC2+c.1200C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205238530">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1791,156,0:127	1|1:0,62:62:99:2199,185,0:127	1|0:27,35:62:99:1127,0,793:127
1	205272926	.	C	T	5599.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1106201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1106201" target="_blank">rs1106201</a>;ExAC.Info.AC=41807;ExAC.Info.AN=126520;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=25854;ExAC.Info.AC_Hom=7119;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttG/ttA;snpeff.Amino_Acid_Change=p.Leu513Leu/c.1539G>A;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367157;SAVANT_GENE=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;SAVANT_INFO=-/19.7kb/7/3.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1539G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUAK2+c.1539G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205272926">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,35:73:99:1015,0,1193:127	0|0:105,0:105:99:0,316,3928:127	1|0:44,34:78:99:987,0,1451:127
1	205272983	.	C	G	8862.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1106202;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1106202" target="_blank">rs1106202</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=42047;ExAC.Info.AN=126696;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=27026;ExAC.Info.AC_Hom=7438;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu494Leu/c.1482G>C;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367157;SAVANT_GENE=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;SAVANT_INFO=-/19.7kb/7/3.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1482G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUAK2+c.1482G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205272983">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,51:108:99:1384,0,1695:127	0|0:121,0:121:99:0,364,4349:127	1|0:48,55:103:99:1690,0,1437:127
1	205273142	.	G	C	2808.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41264881;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41264881" target="_blank">rs41264881</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=15210;ExAC.Info.AN=126696;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=13050;ExAC.Info.AC_Hom=1047;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro441Pro/c.1323C>G;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367157;SAVANT_GENE=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;SAVANT_INFO=-/19.7kb/7/3.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1323C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUAK2+c.1323C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205273142">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,301,3583:127	0|0:88,0:88:99:0,265,3389:127	0|1:34,50:84:99:1423,0,1052:127
1	205275421	.	A	G	9277.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4951197;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4951197" target="_blank">rs4951197</a>;ExAC.Info.AC=125942;ExAC.Info.AN=126704;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=719;ExAC.Info.AC_Hom=62546;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly195Gly/c.585T>C;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367157;SAVANT_GENE=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;SAVANT_INFO=-/19.7kb/7/3.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.585T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUAK2+c.585T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205275421">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:937,75,0:116	1|1:0,45:45:99:1561,135,0:116	1|1:0,39:39:99:1207,117,0:116
1	205290794	.	G	A	5780.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3738746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738746" target="_blank">rs3738746</a>;ExAC.Info.AC=34332;ExAC.Info.AN=124454;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=17426;ExAC.Info.AC_Hom=3940;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=38;snpeff.Amino_Acid_Change=c.-38C>T;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367157;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367157;SAVANT_GENE=NUAK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUAK2" target="_blank">NUAK2</a>;SAVANT_INFO=-/19.7kb/7/3.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-38C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUAK2+c.-38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205290794">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,34:51:99:1059,0,495:127	1|0:43,42:85:99:1162,0,1343:127	0|0:64,0:64:99:0,192,2385:127
1	205306590	.	G	A	802.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3210952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3210952" target="_blank">rs3210952</a>;ExAC.Info.AC=23501;ExAC.Info.AN=126704;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=18537;ExAC.Info.AC_Hom=2482;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala330Ala/c.990C>T;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=KLHDC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC8A" target="_blank">KLHDC8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539253;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367156;SAVANT_GENE=KLHDC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC8A" target="_blank">KLHDC8A</a>;SAVANT_INFO=-/20.9kb/9/3.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.990C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC8A+c.990C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205306590">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,597:58	0|1:15,15:30:99:420,0,437:58	0|0:21,0:21:63:0,63,725:58
1	205307789	.	G	A	1824.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11240441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11240441" target="_blank">rs11240441</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.758-65C>T;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=KLHDC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC8A" target="_blank">KLHDC8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539253;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Kelch_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.758G>A;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=KLHDC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC8A" target="_blank">KLHDC8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539253;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Kelch_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.758G>A;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=KLHDC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC8A" target="_blank">KLHDC8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539253;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367156;SAVANT_GENE=KLHDC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC8A" target="_blank">KLHDC8A</a>;SAVANT_INFO=-/20.9kb/9/3.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.758-65C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC8A+c.758-65C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205307789">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,8:28:99:202,0,657:93	1|0:16,18:34:99:494,0,534:93	0|0:31,0:31:93:0,93,1166:93
1	205325609	.	C	A	5749.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2298250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298250" target="_blank">rs2298250</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=KLHDC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC8A" target="_blank">KLHDC8A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367156;SAVANT_GENE=KLHDC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC8A" target="_blank">KLHDC8A</a>;SAVANT_INFO=-/20.9kb/9/3.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12877G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KLHDC8A+c.-12877G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205325609">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,34:67:99:894,0,938:127	0/1:55,34:89:99:884,0,1750:127	0/1:30,19:49:99:543,0,850:127
1	205385498	.	C	T	14363.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=450;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6688045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6688045" target="_blank">rs6688045</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.206-74G>A;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=LEMD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEMD1" target="_blank">LEMD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367153;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367153;SAVANT_GENE=LEMD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEMD1" target="_blank">LEMD1</a>;SAVANT_INFO=-/40.7kb/6/0.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.206-74G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEMD1+c.206-74G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205385498">View</a>	GT:AD:DP:GQ:PL:TP	0|1:92,58:150:99:1375,0,2661:127	1|1:0,146:146:99:4727,439,0:127	0|0:154,0:154:99:0,463,5187:127
1	205389653	.	C	T	8104.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=463;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72748911;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72748911" target="_blank">rs72748911</a>;ExAC.Info.AC=2;ExAC.Info.AN=126704;ExAC.Info.AF=1.578e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:LEM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12C>T;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=LEMD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEMD1" target="_blank">LEMD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367153;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LEM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12C>T;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=LEMD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEMD1" target="_blank">LEMD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367153;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val4Val/c.12G>A;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=LEMD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEMD1" target="_blank">LEMD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367153;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367153;SAVANT_GENE=LEMD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEMD1" target="_blank">LEMD1</a>;SAVANT_INFO=-/40.7kb/6/0.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.12G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEMD1+c.12G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205389653">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,43:125:99:1063,0,2464:127	0|0:188,0:188:99:0,564,6564:127	1|0:73,77:150:99:2041,0,2080:127
1	205492756	.	A	G	11400.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7529442;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7529442" target="_blank">rs7529442</a>;ExAC.Info.AC=109757;ExAC.Info.AN=117306;ExAC.Info.AF=0.936;ExAC.Info.AC_Het=1943;ExAC.Info.AC_Hom=19740;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val92Val/c.276A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000506784;SAVANT_GENE=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;SAVANT_INFO=+/27.2kb/16/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.276A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK18+c.276A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205492756">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,27:53:99:883,0,684:127	1|1:0,85:85:99:3209,256,0:127	0|1:33,31:64:99:893,0,974:127
1	205495392	.	A	G	9840.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2297837;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297837" target="_blank">rs2297837</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.661+85A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000506784;SAVANT_GENE=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;SAVANT_INFO=+/27.2kb/16/2.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.661+85A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK18+c.661+85A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205495392">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,25:74:99:754,0,1485:127	1|1:0,67:67:99:2554,202,0:127	0|1:32,27:59:99:763,0,975:127
1	205495976	.	A	G	28254.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1544154;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1544154" target="_blank">rs1544154</a>;ExAC.Info.AC=126698;ExAC.Info.AN=126702;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=63286;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.819+11A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000506784;SAVANT_GENE=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;SAVANT_INFO=+/27.2kb/16/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.819+11A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK18+c.819+11A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205495976">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3336,288,0:127	1|1:0,133:133:99:4522,400,0:127	1|1:0,86:86:99:3028,258,0:127
1	205498843	.	G	T	9161.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs45479796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45479796" target="_blank">rs45479796</a>;ExAC.Info.AC=4093;ExAC.Info.AN=98192;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=1274;ExAC.Info.AC_Hom=99;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1311+152G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000506784;SAVANT_GENE=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;SAVANT_INFO=+/27.2kb/16/2.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1311+152G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK18+c.1311+152G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205498843">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,45:117:99:1248,0,2109:127	1|0:99,73:172:99:2144,0,3078:127	0|0:132,0:132:99:0,397,4988:127
1	205500543	.	T	C	4088.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=513;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11240507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11240507" target="_blank">rs11240507</a>;ExAC.Info.AC=25198;ExAC.Info.AN=126698;ExAC.Info.AF=0.199;ExAC.Info.AC_Het=19211;ExAC.Info.AC_Hom=2953;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=37;snpeff.Amino_Acid_Change=c.*37T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000506784;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000506784;SAVANT_GENE=CDK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK18" target="_blank">CDK18</a>;SAVANT_INFO=+/27.2kb/16/2.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*37T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK18+c.*37T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205500543">View</a>	GT:AD:DP:GQ:PL:TP	0|0:180,0:180:99:0,540,5617:127	0|0:178,0:178:99:0,533,5675:127	0|1:83,72:155:99:2063,0,2192:127
1	205554085	.	G	C	3348.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=388;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7526132;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7526132" target="_blank">rs7526132</a>;ExAC.Info.AC=56381;ExAC.Info.AN=126704;ExAC.Info.AF=0.445;ExAC.Info.AC_Het=29066;ExAC.Info.AC_Hom=13642;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941G>C;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941G>C;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gCc;snpeff.Amino_Acid_Change=p.Gly314Ala/c.941G>C;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367147;SAVANT_GENE=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;SAVANT_INFO=+/33.9kb/10/4.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.941G>C_p.Gly314Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MFSD4+c.941G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205554085">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,349,6465:127	0|0:157,0:157:99:0,490,8772:127	0|1:71,47:118:99:1693,0,3618:127
1	205554095	.	A	C	3178.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7515820;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7515820" target="_blank">rs7515820</a>;ExAC.Info.AC=53333;ExAC.Info.AN=126704;ExAC.Info.AF=0.421;ExAC.Info.AC_Het=28849;ExAC.Info.AC_Hom=12223;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.951A>C;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.951A>C;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtC;snpeff.Amino_Acid_Change=p.Val317Val/c.951A>C;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367147;SAVANT_GENE=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;SAVANT_INFO=+/33.9kb/10/4.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.951A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MFSD4+c.951A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205554095">View</a>	GT:AD:DP:GQ:PL:TP	0|0:114,0:114:99:0,346,6439:127	0|0:152,0:152:99:0,469,8445:127	0|1:66,43:109:99:1608,0,3447:127
1	205561372	.	C	T	1975.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7529077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7529077" target="_blank">rs7529077</a>;ExAC.Info.AC=23043;ExAC.Info.AN=126704;ExAC.Info.AF=0.182;ExAC.Info.AC_Het=18057;ExAC.Info.AC_Hom=2468;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1254C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe418Phe/c.1254C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367147;SAVANT_GENE=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;SAVANT_INFO=+/33.9kb/10/4.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1254C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MFSD4+c.1254C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205561372">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2182:127	0|0:70,0:70:99:0,210,2597:127	0|1:23,33:56:99:1007,0,671:127
1	205568213	.	C	T	5420.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2282449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282449" target="_blank">rs2282449</a>;ExAC.Info.AC=36195;ExAC.Info.AN=126690;ExAC.Info.AF=0.286;ExAC.Info.AC_Het=23006;ExAC.Info.AC_Hom=6533;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1369-46C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367147;SAVANT_GENE=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;SAVANT_INFO=+/33.9kb/10/4.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1369-46C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MFSD4+c.1369-46C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205568213">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,33:62:99:887,0,790:127	1|0:32,41:73:99:1225,0,964:127	0|0:60,0:60:99:0,180,2244:127
1	205568390	.	T	A	4675.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2282450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282450" target="_blank">rs2282450</a>;ExAC.Info.AC=42069;ExAC.Info.AN=126700;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=25662;ExAC.Info.AC_Hom=8178;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1489+11T>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367147;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367147;SAVANT_GENE=MFSD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MFSD4" target="_blank">MFSD4</a>;SAVANT_INFO=+/33.9kb/10/4.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1489+11T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MFSD4+c.1489+11T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205568390">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,12:46:99:312,0,1007:127	1|0:33,38:71:99:1071,0,1004:127	0|0:79,0:79:99:0,237,2657:127
1	205589574	.	C	T	11841.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=536;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1064406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1064406" target="_blank">rs1064406</a>;ExAC.Info.AC=16600;ExAC.Info.AN=126704;ExAC.Info.AF=0.131;ExAC.Info.AC_Het=13541;ExAC.Info.AC_Hom=1527;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro200Pro/c.600G>A;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=ELK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELK4" target="_blank">ELK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357992;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357992;SAVANT_GENE=ELK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELK4" target="_blank">ELK4</a>;SAVANT_INFO=-/24.0kb/5/10.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.600G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELK4+c.600G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205589574">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,75:146:99:2166,0,1925:127	1|0:122,98:220:99:2663,0,3348:127	0|0:170,0:170:99:0,510,5821:127
1	205615791	.	A	G	5784.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6673283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6673283" target="_blank">rs6673283</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6673283" target="_blank">rs6673283</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205615791">View</a>	GT:AD:DP:GQ:PL:TP	0|0:121,0:121:99:0,363,3921:127	0|1:59,57:116:99:1608,0,1737:127	0|1:59,49:108:99:1304,0,1659:127
1	205615947	.	C	A	5433.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4951250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4951250" target="_blank">rs4951250</a>;ExAC.Info.AC=7108;ExAC.Info.AN=12546;ExAC.Info.AF=0.567;ExAC.Info.AC_Het=4524;ExAC.Info.AC_Hom=590;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4951250" target="_blank">rs4951250</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205615947">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:716,81,0:56	1|1:2,46:48:89:1167,89,0:56	1|1:1,27:28:57:687,57,0:56
1	205633573	.	T	C	5299.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56927917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56927917" target="_blank">rs56927917</a>;ExAC.Info.AC=2788;ExAC.Info.AN=126696;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2630;ExAC.Info.AC_Hom=62;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.172+40A>G;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=SLC45A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A3" target="_blank">SLC45A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367145;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.173T>C;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=SLC45A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A3" target="_blank">SLC45A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367145;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.173T>C;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=SLC45A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A3" target="_blank">SLC45A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367145;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367145;SAVANT_GENE=SLC45A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A3" target="_blank">SLC45A3</a>;SAVANT_INFO=-/22.6kb/5/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.172+40A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC45A3+c.172+40A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205633573">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,26:70:99:714,0,1385:127	1|0:41,34:75:99:1064,0,1248:127	0|0:66,0:66:99:0,199,2437:127
1	205686523	.	G	GT	4727.5	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=120;MQ=70.03;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs34305872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34305872" target="_blank">rs34305872</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=884;snpeff.Amino_Acid_Change=c.*884_*885insA;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=NUCKS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCKS1" target="_blank">NUCKS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367142;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367142;SAVANT_GENE=NUCKS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCKS1" target="_blank">NUCKS1</a>;SAVANT_INFO=-/37.5kb/7/6.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*884dupA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUCKS1+c.*884dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205686523">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,30:32:43:662,43,0:42	1|0:8,39:47:72:720,0,72:42	1|1:3,38:41:62:789,62,0:42
1	205687348	.	CTTTTTTCTTT	C	5834.84	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs71709139;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71709139" target="_blank">rs71709139</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=50;snpeff.Amino_Acid_Change=c.*50_*59delAAAGAAAAAA;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=NUCKS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCKS1" target="_blank">NUCKS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367142;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367142;SAVANT_GENE=NUCKS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCKS1" target="_blank">NUCKS1</a>;SAVANT_INFO=-/37.5kb/7/6.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*50_*59del10;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUCKS1+c.*50_*59del10+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205687348">View</a>	GT:AD:DP:GQ:PL:TP	1|1:3,24:27:2:587,0,2:6	1|1:3,41:44:48:1055,48,0:6	1|1:4,36:40:9:887,9,0:6
1	205739266	.	C	T	26371.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs708723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=708723" target="_blank">rs708723</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RAB7L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB7L1" target="_blank">RAB7L1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367139;SAVANT_GENE=RAB7L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB7L1" target="_blank">RAB7L1</a>;SAVANT_INFO=-/7.5kb/6/3.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*204G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAB7L1+c.*204G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205739266">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3231,295,0:127	1|1:0,132:132:99:4433,397,0:127	1|1:0,129:129:99:4400,388,0:127
1	205739396	.	T	G	47242.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=561;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs823139;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=823139" target="_blank">rs823139</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RAB7L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB7L1" target="_blank">RAB7L1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367139;SAVANT_GENE=RAB7L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB7L1" target="_blank">RAB7L1</a>;SAVANT_INFO=-/7.5kb/6/3.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*74A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAB7L1+c.*74A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205739396">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:5743,471,0:127	1|1:0,211:211:99:7891,634,0:127	1|1:0,193:193:99:7168,580,0:127
1	205744138	.	G	T	33790.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs708725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=708725" target="_blank">rs708725</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=54;snpeff.Amino_Acid_Change=c.-54C>A;snpeff.Amino_Acid_length=203;snpeff.Gene_Name=RAB7L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB7L1" target="_blank">RAB7L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414729;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367139;SAVANT_GENE=RAB7L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB7L1" target="_blank">RAB7L1</a>;SAVANT_INFO=-/7.5kb/6/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-54C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAB7L1+c.-54C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205744138">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,149:149:99:4558,441,0:127	1|1:6,181:187:99:5537,494,0:127	1|1:2,140:142:99:4537,404,0:127
1	205764640	.	G	A	46378.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=620;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs823156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=823156" target="_blank">rs823156</a>;ExAC.Info.AC=97288;ExAC.Info.AN=126694;ExAC.Info.AF=0.768;ExAC.Info.AC_Het=20671;ExAC.Info.AC_Hom=37705;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1073-34C>T;snpeff.Amino_Acid_length=513;snpeff.Gene_Name=SLC41A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC41A1" target="_blank">SLC41A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367137;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1073G>A;snpeff.Amino_Acid_length=513;snpeff.Gene_Name=SLC41A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC41A1" target="_blank">SLC41A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367137;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1073G>A;snpeff.Amino_Acid_length=513;snpeff.Gene_Name=SLC41A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC41A1" target="_blank">SLC41A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367137;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367137;SAVANT_GENE=SLC41A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC41A1" target="_blank">SLC41A1</a>;SAVANT_INFO=-/24.1kb/11/5.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1073-34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC41A1+c.1073-34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205764640">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,193:193:99:6138,580,0:127	1|1:0,237:237:99:7888,712,0:127	1|1:0,190:190:99:6338,571,0:127
1	205766159	.	CA	C	23015.89	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5780304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5780304" target="_blank">rs5780304</a>;ExAC.Info.AC=104617;ExAC.Info.AN=126444;ExAC.Info.AF=0.827;ExAC.Info.AC_Het=14406;ExAC.Info.AC_Hom=39143;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.993-29delT;snpeff.Amino_Acid_length=513;snpeff.Gene_Name=SLC41A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC41A1" target="_blank">SLC41A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367137;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.993delA;snpeff.Amino_Acid_length=513;snpeff.Gene_Name=SLC41A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC41A1" target="_blank">SLC41A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367137;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.993delA;snpeff.Amino_Acid_length=513;snpeff.Gene_Name=SLC41A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC41A1" target="_blank">SLC41A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367137;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367137;SAVANT_GENE=SLC41A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC41A1" target="_blank">SLC41A1</a>;SAVANT_INFO=-/24.1kb/11/5.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.993-29delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC41A1+c.993-29delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205766159">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:3032,256,0:127	1|1:0,99:99:99:3489,297,0:127	1|1:0,77:77:99:2746,233,0:127
1	205767885	.	G	A	38872.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=481;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs708727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=708727" target="_blank">rs708727</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37611;ExAC.Info.AN=126704;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=23123;ExAC.Info.AC_Hom=7242;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn252Asn/c.756C>T;snpeff.Amino_Acid_length=513;snpeff.Gene_Name=SLC41A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC41A1" target="_blank">SLC41A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367137;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367137;SAVANT_GENE=SLC41A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC41A1" target="_blank">SLC41A1</a>;SAVANT_INFO=-/24.1kb/11/5.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.756C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC41A1+c.756C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205767885">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,150:150:99:5075,451,0:127	1|1:0,178:178:99:6267,535,0:127	1|1:0,153:153:99:5435,460,0:127
1	205801872	.	A	G	29907.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1361754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1361754" target="_blank">rs1361754</a>;ExAC.Info.AC=51854;ExAC.Info.AN=126670;ExAC.Info.AF=0.409;ExAC.Info.AC_Het=26470;ExAC.Info.AC_Hom=12567;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile380Thr/c.1139T>C;snpeff.Amino_Acid_length=502;snpeff.Gene_Name=PM20D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PM20D1" target="_blank">PM20D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367136;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367136;SAVANT_GENE=PM20D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PM20D1" target="_blank">PM20D1</a>;SAVANT_INFO=-/22.1kb/13/2.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1139T>C_p.Ile380Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PM20D1+c.1139T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205801872">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,105:105:99:3697,315,0:127	1|1:0,125:125:99:4514,376,0:127	1|1:0,108:108:99:4042,325,0:127
1	205814497	.	T	C	35697.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=443;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1891460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1891460" target="_blank">rs1891460</a>;ExAC.Info.AC=111965;ExAC.Info.AN=126704;ExAC.Info.AF=0.884;ExAC.Info.AC_Het=11989;ExAC.Info.AC_Hom=49986;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile149Val/c.445A>G;snpeff.Amino_Acid_length=502;snpeff.Gene_Name=PM20D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PM20D1" target="_blank">PM20D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367136;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367136;SAVANT_GENE=PM20D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PM20D1" target="_blank">PM20D1</a>;SAVANT_INFO=-/22.1kb/13/2.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.445A>G_p.Ile149Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PM20D1+c.445A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205814497">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,135:135:99:4548,409,0:127	1|1:0,164:164:99:5709,492,0:127	1|1:0,144:144:99:4834,436,0:127
1	205884062	.	T	C	2922.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs9438438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9438438" target="_blank">rs9438438</a>;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro874Pro/c.2622A>G;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367134;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367134;SAVANT_GENE=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;SAVANT_INFO=-/30.4kb/22/4.6kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.2622A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC26A9+c.2622A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205884062">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,300,3328:127	0|1:65,51:116:99:1480,0,1956:127	0|0:102,0:102:99:0,307,3528:127
1	205884274	.	T	C	2452.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6669481;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6669481" target="_blank">rs6669481</a>;ExAC.Info.AC=13251;ExAC.Info.AN=126694;ExAC.Info.AF=0.105;ExAC.Info.AC_Het=10487;ExAC.Info.AC_Hom=1366;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg804Gly/c.2410A>G;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367134;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367134;SAVANT_GENE=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;SAVANT_INFO=-/30.4kb/22/4.6kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.2410A>G_p.Arg804Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC26A9+c.2410A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205884274">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2304:127	0|1:34,44:78:99:1245,0,1001:127	0|0:64,0:64:99:0,192,2387:127
1	205886376	.	T	A	2876.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35694044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35694044" target="_blank">rs35694044</a>;ExAC.Info.AC=8884;ExAC.Info.AN=126700;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=8051;ExAC.Info.AC_Hom=412;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2328+35A>T;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367134;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367134;SAVANT_GENE=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;SAVANT_INFO=-/30.4kb/22/4.6kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2328+35A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC26A9+c.2328+35A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205886376">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2063:127	0|1:52,49:101:99:1457,0,1567:127	0|0:72,0:72:99:0,216,2804:127
1	205887981	.	T	C	6810.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=765;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16856462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16856462" target="_blank">rs16856462</a>;ExAC.Info.AC=9324;ExAC.Info.AN=126704;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=8366;ExAC.Info.AC_Hom=478;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His748Arg/c.2243A>G;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367134;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367134;SAVANT_GENE=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;SAVANT_INFO=-/30.4kb/22/4.6kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2243A>G_p.His748Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC26A9+c.2243A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205887981">View</a>	GT:AD:DP:GQ:PL:TP	0|0:242,0:242:99:0,727,8332:127	0|1:125,119:244:99:3424,0,3827:127	0|0:279,0:279:99:0,838,9902:127
1	205889329	.	C	T	1322.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs16856470;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16856470" target="_blank">rs16856470</a>;ExAC.Info.AC=7991;ExAC.Info.AN=126704;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=7349;ExAC.Info.AC_Hom=321;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val695Val/c.2085G>A;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367134;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367134;SAVANT_GENE=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;SAVANT_INFO=-/30.4kb/22/4.6kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2085G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC26A9+c.2085G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205889329">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1523:86	0|1:23,26:49:99:680,0,669:86	0|0:29,0:29:87:0,87,1110:86
1	205890679	.	T	C	9542.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs12759719;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12759719" target="_blank">rs12759719</a>;ExAC.Info.AC=115391;ExAC.Info.AN=126594;ExAC.Info.AF=0.912;ExAC.Info.AC_Het=9302;ExAC.Info.AC_Hom=48998;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2055+15A>G;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367134;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367134;SAVANT_GENE=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;SAVANT_INFO=-/30.4kb/22/4.6kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2055+15A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC26A9+c.2055+15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205890679">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,29:57:99:800,0,674:127	0|1:35,36:71:99:1058,0,924:127	1|1:0,68:68:99:2289,204,0:127
1	205896475	.	C	T	4777.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7366204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7366204" target="_blank">rs7366204</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1216-59G>A;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367134;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367134;SAVANT_GENE=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;SAVANT_INFO=-/30.4kb/22/4.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1216-59G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC26A9+c.1216-59G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205896475">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,9:27:99:263,0,569:66	0|1:23,27:50:99:783,0,789:66	1|1:0,22:22:66:829,66,0:66
1	205896647	.	A	G	2062.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34803033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34803033" target="_blank">rs34803033</a>;ExAC.Info.AC=8935;ExAC.Info.AN=126704;ExAC.Info.AF=0.071;ExAC.Info.AC_Het=8033;ExAC.Info.AC_Hom=442;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala396Ala/c.1188T>C;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367134;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367134;SAVANT_GENE=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;SAVANT_INFO=-/30.4kb/22/4.6kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1188T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC26A9+c.1188T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205896647">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2067:127	0|1:49,40:89:99:1050,0,1360:127	0|0:62,0:62:99:0,186,2101:127
1	205896948	.	A	G	3636.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3811424;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811424" target="_blank">rs3811424</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1101+82T>C;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367134;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367134;SAVANT_GENE=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;SAVANT_INFO=-/30.4kb/22/4.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1101+82T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC26A9+c.1101+82T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205896948">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,13:33:99:402,0,632:93	0|0:59,0:59:99:0,177,2111:93	1|1:0,31:31:93:1183,93,0:93
1	205901000	.	G	A	1946.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs33943971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33943971" target="_blank">rs33943971</a>;ExAC.Info.AC=8864;ExAC.Info.AN=126698;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=7984;ExAC.Info.AC_Hom=426;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr180Thr/c.540C>T;snpeff.Amino_Acid_length=887;snpeff.Gene_Name=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367134;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367134;SAVANT_GENE=SLC26A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A9" target="_blank">SLC26A9</a>;SAVANT_INFO=-/30.4kb/22/4.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.540C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC26A9+c.540C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:205901000">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2568:127	0|1:42,35:77:99:992,0,1292:127	0|0:68,0:68:99:0,204,2384:127
1	206239403	.	C	T	6172.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs28602496;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28602496" target="_blank">rs28602496</a>;ExAC.Info.AC=13086;ExAC.Info.AN=126702;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=11428;ExAC.Info.AC_Hom=809;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala165Ala/c.495G>A;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=C1orf186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf186" target="_blank">C1orf186</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331555;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331555;SAVANT_GENE=C1orf186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf186" target="_blank">C1orf186</a>;SAVANT_INFO=-/49.8kb/6/1.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.495G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf186+c.495G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206239403">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,40:90:99:1030,0,1434:127	0|0:143,0:143:99:0,429,4807:127	1|0:51,46:97:99:1249,0,1429:127
1	206239415	.	C	T	6029.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs28639473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28639473" target="_blank">rs28639473</a>;ExAC.Info.AC=11848;ExAC.Info.AN=126702;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=10370;ExAC.Info.AC_Hom=726;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu161Leu/c.483G>A;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=C1orf186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf186" target="_blank">C1orf186</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331555;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331555;SAVANT_GENE=C1orf186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf186" target="_blank">C1orf186</a>;SAVANT_INFO=-/49.8kb/6/1.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.483G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf186+c.483G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206239415">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,47:98:99:1106,0,1480:127	0|0:150,0:150:99:0,451,5307:127	1|0:55,45:100:99:1171,0,1612:127
1	206239574	.	T	C	3899.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs28391411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28391411" target="_blank">rs28391411</a>;ExAC.Info.AC=16328;ExAC.Info.AN=126602;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=12724;ExAC.Info.AC_Hom=1583;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr108Thr/c.324A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=C1orf186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf186" target="_blank">C1orf186</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331555;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331555;SAVANT_GENE=C1orf186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf186" target="_blank">C1orf186</a>;SAVANT_INFO=-/49.8kb/6/1.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.324A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf186+c.324A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206239574">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,32:69:99:944,0,1051:127	0|0:93,0:93:99:0,279,3191:127	1|0:37,26:63:99:722,0,1128:127
1	206240271	.	G	A	2082.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs28523378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28523378" target="_blank">rs28523378</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.257-76C>T;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=C1orf186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf186" target="_blank">C1orf186</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331555;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331555;SAVANT_GENE=C1orf186;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf186" target="_blank">C1orf186</a>;SAVANT_INFO=-/49.8kb/6/1.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.257-76C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf186+c.257-76C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206240271">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,15:34:99:432,0,583:93	0|0:31,0:31:93:0,93,1133:93	1|0:14,14:28:99:418,0,398:93
1	206327510	.	T	C	5691.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs61742539;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61742539" target="_blank">rs61742539</a>;ExAC.Info.AC=20938;ExAC.Info.AN=126700;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=16280;ExAC.Info.AC_Hom=2328;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe238Phe/c.714T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=CTSE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSE" target="_blank">CTSE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361052;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358184;SAVANT_GENE=CTSE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSE" target="_blank">CTSE</a>;SAVANT_INFO=+/14.6kb/9/2.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.699T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSE+c.699T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206327510">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,14:33:99:452,0,570:127	1|1:0,47:47:99:1782,141,0:127	0|0:48,0:48:99:0,144,1726:127
1	206328803	.	T	C	13240.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs41302235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41302235" target="_blank">rs41302235</a>;ExAC.Info.AC=22091;ExAC.Info.AN=126698;ExAC.Info.AF=0.174;ExAC.Info.AC_Het=16941;ExAC.Info.AC_Hom=2560;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro295Pro/c.885T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=CTSE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSE" target="_blank">CTSE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361052;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358184;SAVANT_GENE=CTSE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSE" target="_blank">CTSE</a>;SAVANT_INFO=+/14.6kb/9/2.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.870T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSE+c.870T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206328803">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,69:123:99:2115,0,1535:127	1|1:0,112:112:99:3843,336,0:127	0|0:90,1:91:99:0,233,3336:127
1	206516261	.	C	T	5060.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=154;MQ=51.68;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201036189;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201036189" target="_blank">rs201036189</a>;ExAC.Info.AC=54561;ExAC.Info.AN=124066;ExAC.Info.AF=0.440;ExAC.Info.AC_Het=48294;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg21Trp/c.61C>T;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295713;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000295713;SAVANT_GENE=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;SAVANT_INFO=+/121.6kb/20/6.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.62C>T_p.Ala21Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2+c.62C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206516261">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,18:46:99:509,0,1013:127	0/1:33,27:60:99:827,0,1185:127	0/1:23,25:48:99:818,0,815:127
1	206566195	.	C	T	910.54	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=474;MQ=47.33;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs200978831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200978831" target="_blank">rs200978831</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=32585;ExAC.Info.AN=126288;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=28945;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn125Asn/c.375C>T;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295713;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000295713;SAVANT_GENE=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;SAVANT_INFO=+/121.6kb/20/6.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.376C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2+c.376C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206566195">View</a>	GT:AD:DP:GQ:PL:TP	0|0:144,9:153:99:0,187,4265:127	0|0:155,0:155:99:0,465,4934:127	0|1:142,24:166:99:313,0,4003:127
1	206566904	.	T	C	24497.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=645;MQ=62.28;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2919105;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2919105" target="_blank">rs2919105</a>;ExAC.Info.AC=62257;ExAC.Info.AN=124858;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=62190;ExAC.Info.AC_Hom=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg148Arg/c.444T>C;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295713;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.444T>C;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295713;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000295713;SAVANT_GENE=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;SAVANT_INFO=+/121.6kb/20/6.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.445T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2+c.445T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206566904">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,119:187:99:3935,0,1773:127	0/1:98,146:244:99:4583,0,2698:127	0/1:102,112:214:99:3689,0,2927:127
1	206579798	.	T	C	1247.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=42;MQ=30.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs200703951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200703951" target="_blank">rs200703951</a>;ExAC.Info.AC=49669;ExAC.Info.AN=111550;ExAC.Info.AF=0.445;ExAC.Info.AC_Het=27783;ExAC.Info.AC_Hom=39;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe320Phe/c.960T>C;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295713;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000295713;SAVANT_GENE=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;SAVANT_INFO=+/121.6kb/20/6.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.961T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2+c.961T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206579798">View</a>	GT:AD:DP:GQ:PL:TP	0/1:6,8:14:99:236,0,166:127	0/1:7,6:13:99:168,0,204:127	0/1:5,10:15:99:303,0,129:127
1	206579936	.	A	G	3096.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=200;MQ=30.18;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs201644221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201644221" target="_blank">rs201644221</a>;ExAC.Info.AC=48094;ExAC.Info.AN=123720;ExAC.Info.AF=0.389;ExAC.Info.AC_Het=44026;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1095+3A>G;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295713;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>G;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295713;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000295713;SAVANT_GENE=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;SAVANT_INFO=+/121.6kb/20/6.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1096+3A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2+c.1096+3A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206579936">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,23:55:99:614,0,907:127	0/1:68,21:89:99:434,0,1924:127	0/1:39,17:56:99:412,0,1127:127
1	206603535	.	G	A	7307.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2297539;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297539" target="_blank">rs2297539</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=61492;ExAC.Info.AN=124906;ExAC.Info.AF=0.492;ExAC.Info.AC_Het=30342;ExAC.Info.AC_Hom=15558;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu419Leu/c.1257G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295713;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000295713;SAVANT_GENE=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;SAVANT_INFO=+/121.6kb/20/6.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1258G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2+c.1258G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206603535">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,68:119:99:1758,0,1474:127	0|0:120,0:120:99:0,361,4319:127	1|0:52,61:113:99:1640,0,1350:127
1	206623685	.	G	T	12279.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12725078;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12725078" target="_blank">rs12725078</a>;ExAC.Info.AC=82406;ExAC.Info.AN=125032;ExAC.Info.AF=0.659;ExAC.Info.AC_Het=24981;ExAC.Info.AC_Hom=26599;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1839-46G>T;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295713;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000295713;SAVANT_GENE=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;SAVANT_INFO=+/121.6kb/20/6.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1840-46G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2+c.1840-46G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206623685">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,49:81:99:1320,0,894:127	1|1:0,114:114:99:3821,342,0:127	0|0:100,0:100:99:0,301,3642:127
1	206626607	.	G	A	9681.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11120575;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11120575" target="_blank">rs11120575</a>;ExAC.Info.AC=54815;ExAC.Info.AN=125436;ExAC.Info.AF=0.437;ExAC.Info.AC_Het=25895;ExAC.Info.AC_Hom=11008;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu660Leu/c.1980G>A;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295713;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000295713;SAVANT_GENE=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;SAVANT_INFO=+/121.6kb/20/6.0kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1981G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2+c.1981G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206626607">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,38:71:99:980,0,959:127	1|1:3,99:102:99:3220,216,0:127	0|0:65,0:65:99:0,195,2392:127
1	206634429	.	A	G	4424.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17018890;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17018890" target="_blank">rs17018890</a>;ExAC.Info.AC=28672;ExAC.Info.AN=125036;ExAC.Info.AF=0.229;ExAC.Info.AC_Het=21190;ExAC.Info.AC_Hom=3526;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu873Leu/c.2619A>G;snpeff.Amino_Acid_length=984;snpeff.Gene_Name=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295713;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000295713;SAVANT_GENE=SRGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGAP2" target="_blank">SRGAP2</a>;SAVANT_INFO=+/121.6kb/20/6.0kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2620A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGAP2+c.2620A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206634429">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,12:38:99:348,0,741:127	1|0:31,36:67:99:1065,0,886:127	0|0:48,0:48:99:0,144,1650:127
1	206647742	.	A	G	27333.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1539242;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1539242" target="_blank">rs1539242</a>;ExAC.Info.AC=126526;ExAC.Info.AN=126702;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=170;ExAC.Info.AC_Hom=63126;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln52Gln/c.156A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367120;SAVANT_GENE=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;SAVANT_INFO=+/26.4kb/22/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.156A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IKBKE+c.156A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206647742">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3566,321,0:127	1|1:0,109:109:99:3839,328,0:127	1|1:0,98:98:99:3420,294,0:127
1	206647787	.	T	C	25980.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1539243;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1539243" target="_blank">rs1539243</a>;ExAC.Info.AC=108672;ExAC.Info.AN=126692;ExAC.Info.AF=0.858;ExAC.Info.AC_Het=14983;ExAC.Info.AC_Hom=46626;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.201T>C;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.201T>C;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.201T>C;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.201T>C;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.201T>C;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.201T>C;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.201T>C;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile67Ile/c.201T>C;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367120;SAVANT_GENE=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;SAVANT_INFO=+/26.4kb/22/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.201T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IKBKE+c.201T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206647787">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3237,309,0:127	1|1:0,114:114:99:3789,342,0:127	1|1:0,103:103:99:3278,308,0:127
1	206648147	.	T	G	5134.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1953090;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1953090" target="_blank">rs1953090</a>;ExAC.Info.AC=29883;ExAC.Info.AN=126614;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=21360;ExAC.Info.AC_Hom=3403;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.229-61T>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229T>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229T>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229T>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229T>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229T>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229T>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229T>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367120;SAVANT_GENE=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;SAVANT_INFO=+/26.4kb/22/3.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.229-61T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IKBKE+c.229-61T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206648147">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:1006,84,0:84	1|0:37,19:56:99:498,0,1202:84	1|0:12,14:26:99:429,0,347:84
1	206650065	.	A	G	10040.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41296034;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41296034" target="_blank">rs41296034</a>;ExAC.Info.AC=5643;ExAC.Info.AN=126704;ExAC.Info.AF=0.045;ExAC.Info.AC_Het=5229;ExAC.Info.AC_Hom=203;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln195Gln/c.585A>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367120;SAVANT_GENE=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;SAVANT_INFO=+/26.4kb/22/3.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.585A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IKBKE+c.585A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206650065">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,63:119:99:1755,0,1569:127	1|0:76,68:144:99:1978,0,2269:127	0|0:128,0:128:99:0,385,4302:127
1	206651107	.	G	A	2768.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2297545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297545" target="_blank">rs2297545</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=23702;ExAC.Info.AN=119182;ExAC.Info.AF=0.199;ExAC.Info.AC_Het=7080;ExAC.Info.AC_Hom=1399;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717G>A;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717G>A;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717G>A;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717G>A;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717G>A;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717G>A;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.717G>A;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr239Thr/c.717G>A;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367120;SAVANT_GENE=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;SAVANT_INFO=+/26.4kb/22/3.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.717G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IKBKE+c.717G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206651107">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,21:38:99:632,0,431:108	0|0:36,0:36:99:0,108,1196:108	1|0:15,19:34:99:495,0,452:108
1	206651725	.	C	T	3259.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17433909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17433909" target="_blank">rs17433909</a>;ExAC.Info.AC=3803;ExAC.Info.AN=126688;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3579;ExAC.Info.AC_Hom=98;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.992+43C>T;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367120;SAVANT_GENE=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;SAVANT_INFO=+/26.4kb/22/3.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.992+43C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IKBKE+c.992+43C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206651725">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,23:51:99:542,0,816:127	0|0:68,0:68:99:0,204,2395:127	1|0:23,18:41:99:560,0,725:127
1	206665896	.	C	G	14488.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2336940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2336940" target="_blank">rs2336940</a>;ExAC.Info.AC=16151;ExAC.Info.AN=21622;ExAC.Info.AF=0.747;ExAC.Info.AC_Het=2899;ExAC.Info.AC_Hom=5679;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1836-460C>G;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGt/gCt;snpeff.Amino_Acid_Change=p.Gly213Ala/c.638G>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=C1orf147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367119;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367120:ENST00000367119;SAVANT_GENE=IKBKE:C1orf147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE:C1orf147" target="_blank">IKBKE:C1orf147</a>;SAVANT_INFO=+/26.4kb/22/3.3kb:-/6.6kb/2/2.1kb;SAVANT_LOC=In18/19:Ex2;SAVANT_HGVS=c.1836-460C>G:c.638G>C_p.Gly213Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IKBKE:C1orf147+c.1836-460C>G:c.638G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206665896">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2617,204,0:127	1|1:0,80:80:99:2956,240,0:127	1|0:24,22:46:99:669,0,733:127
1	206667441	.	G	A	12526.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2184030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2184030" target="_blank">rs2184030</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2117+117G>A;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125-1032C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=C1orf147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE" target="_blank">IKBKE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367119;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367120:ENST00000367119;SAVANT_GENE=IKBKE:C1orf147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE:C1orf147" target="_blank">IKBKE:C1orf147</a>;SAVANT_INFO=+/26.4kb/22/3.3kb:-/6.6kb/2/2.1kb;SAVANT_LOC=In21/22:In1/2;SAVANT_HGVS=c.2117+117G>A:c.125-1032C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IKBKE:C1orf147+c.2117+117G>A:c.125-1032C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206667441">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1389,126,0:125	1|1:0,81:81:99:2790,243,0:125	1|0:45,24:69:99:665,0,1400:125
1	206669465	.	C	T	1128.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748022" target="_blank">rs3748022</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Systemic_lupus_erythematosus|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=605048;hgmd_2014.2.PubMed=23535865;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23535865" target="_blank">23535865</a>;ExAC.Info.AC=24581;ExAC.Info.AN=126704;ExAC.Info.AF=0.194;ExAC.Info.AC_Het=19136;ExAC.Info.AC_Hom=2709;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.124+1462G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=C1orf147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf147" target="_blank">C1orf147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367119;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro713Leu/c.2138C>T;snpeff.Amino_Acid_length=716;snpeff.Gene_Name=IKBKE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf147" target="_blank">C1orf147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367120;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367120:ENST00000367119;SAVANT_GENE=IKBKE:C1orf147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKE:C1orf147" target="_blank">IKBKE:C1orf147</a>;SAVANT_INFO=+/26.4kb/22/3.3kb:-/6.6kb/2/2.1kb;SAVANT_LOC=Ex22:In1/2;SAVANT_HGVS=c.2138C>T_p.Pro713Leu:c.124+1462G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IKBKE:C1orf147+c.2138C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206669465">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,1:54:99:0,123,1741:123	0|0:71,0:71:99:0,213,2413:123	0|1:20,24:44:99:583,0,563:123
1	206680983	.	A	C	9536.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2095124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2095124" target="_blank">rs2095124</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=86968;ExAC.Info.AN=104076;ExAC.Info.AF=0.836;ExAC.Info.AC_Het=4762;ExAC.Info.AC_Hom=16576;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctC;snpeff.Amino_Acid_Change=p.Leu16Leu/c.48A>C;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=RASSF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF5" target="_blank">RASSF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355294;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355294;SAVANT_GENE=RASSF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF5" target="_blank">RASSF5</a>;SAVANT_INFO=+/80.2kb/6/2.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.48A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASSF5+c.48A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206680983">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1236,105,0:94	1|1:0,33:33:99:1197,99,0:94	1|1:0,32:32:96:1148,96,0:94
1	206758077	.	T	A	3534.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4418597;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4418597" target="_blank">rs4418597</a>;ExAC.Info.AC=97455;ExAC.Info.AN=126230;ExAC.Info.AF=0.772;ExAC.Info.AC_Het=16890;ExAC.Info.AC_Hom=31392;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EIF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.988+61T>A;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=RASSF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355294;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-associating];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>A;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=RASSF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355294;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-associating];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.989T>A;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=RASSF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355294;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355294;SAVANT_GENE=RASSF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF5" target="_blank">RASSF5</a>;SAVANT_INFO=+/80.2kb/6/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.988+61T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASSF5+c.988+61T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206758077">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1590:127	0|1:35,48:83:99:1303,0,965:127	0|1:41,19:60:99:484,0,1300:127
1	206769047	.	T	C	2884.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11584983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11584983" target="_blank">rs11584983</a>;ExAC.Info.AC=32606;ExAC.Info.AN=126696;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=23842;ExAC.Info.AC_Hom=4338;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1509+20A>G;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=EIF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271764;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SUI1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1510T>C;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=EIF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271764;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SUI1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1510T>C;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=EIF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271764;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SUI1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1510T>C;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=EIF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271764;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271764;SAVANT_GENE=EIF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;SAVANT_INFO=-/20.9kb/15/2.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1509+20A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2D+c.1509+20A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206769047">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1821:127	0|1:37,46:83:99:1461,0,1098:127	0|0:49,0:49:99:0,147,1793:127
1	206773659	.	A	G	26726.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6662929;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6662929" target="_blank">rs6662929</a>;ExAC.Info.AC=126696;ExAC.Info.AN=126700;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=63314;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro302Pro/c.906T>C;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=EIF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271764;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271764;SAVANT_GENE=EIF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;SAVANT_INFO=-/20.9kb/15/2.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.906T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2D+c.906T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206773659">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2839,261,0:127	1|1:0,125:125:99:4118,376,0:127	1|1:0,121:121:99:4117,364,0:127
1	206775427	.	A	G	18158.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3813972;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813972" target="_blank">rs3813972</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.902+263T>C;snpeff.Amino_Acid_length=584;snpeff.Gene_Name=EIF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271764;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271764;SAVANT_GENE=EIF2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2D" target="_blank">EIF2D</a>;SAVANT_INFO=-/20.9kb/15/2.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.902+263T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF2D+c.902+263T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206775427">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3210,288,0:127	1|1:0,126:126:99:4216,378,0:127	1|0:51,39:90:99:1124,0,1640:127
1	206810248	.	G	T	3665.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17013232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17013232" target="_blank">rs17013232</a>;ExAC.Info.AC=1600;ExAC.Info.AN=126698;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1570;ExAC.Info.AC_Hom=12;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.78-747G>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=DYRK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYRK3" target="_blank">DYRK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367109;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367109;SAVANT_GENE=DYRK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYRK3" target="_blank">DYRK3</a>;SAVANT_INFO=+/13.7kb/3/2.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.78-747G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DYRK3+c.78-747G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206810248">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,30:64:99:876,0,997:127	1|0:37,27:64:99:695,0,1018:127	0|0:66,0:66:99:0,198,2390:127
1	206904464	.	C	T	1492.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10863805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10863805" target="_blank">rs10863805</a>;ExAC.Info.AC=40571;ExAC.Info.AN=126702;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=26442;ExAC.Info.AC_Hom=7058;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.768-19C>T;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367103;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367103;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367103;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367103;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367103;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367103;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367103;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367103;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367103;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367103;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.768C>T;snpeff.Amino_Acid_length=400;snpeff.Gene_Name=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367103;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367103;SAVANT_GENE=MAPKAPK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPKAPK2" target="_blank">MAPKAPK2</a>;SAVANT_INFO=+/49.2kb/10/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.768-19C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAPKAPK2+c.768-19C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206904464">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2418:127	0|0:68,0:68:99:0,204,2346:127	0|1:30,27:57:99:765,0,850:127
1	206941864	.	A	G	40170.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=866;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3024496;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3024496" target="_blank">rs3024496</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=117;snpeff.Amino_Acid_Change=c.*117T>C;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=IL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL10" target="_blank">IL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423557;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423557;SAVANT_GENE=IL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL10" target="_blank">IL10</a>;SAVANT_INFO=-/4.9kb/5/1.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*117T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL10+c.*117T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206941864">View</a>	GT:AD:DP:GQ:PL:TP	0|1:125,141:266:99:4348,0,3266:127	1|1:0,303:303:99:10997,911,0:127	0|1:149,148:297:99:4487,0,4085:127
1	206943351	.	T	C	8527.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3024494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3024494" target="_blank">rs3024494</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.379-112A>G;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=IL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL10" target="_blank">IL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423557;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379T>C;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=IL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL10" target="_blank">IL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423557;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379T>C;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=IL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL10" target="_blank">IL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423557;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423557;SAVANT_GENE=IL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL10" target="_blank">IL10</a>;SAVANT_INFO=-/4.9kb/5/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.379-112A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL10+c.379-112A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206943351">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1053,93,0:110	1|1:0,39:39:99:1399,117,0:110	1|1:0,37:37:99:1242,111,0:110
1	206944233	.	A	G	42344.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=515;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1554286;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1554286" target="_blank">rs1554286</a>;ExAC.Info.AC=90952;ExAC.Info.AN=126704;ExAC.Info.AF=0.718;ExAC.Info.AC_Het=22884;ExAC.Info.AC_Hom=34028;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.378+19T>C;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=IL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL10" target="_blank">IL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423557;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379A>G;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=IL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL10" target="_blank">IL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423557;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.379A>G;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=IL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL10" target="_blank">IL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423557;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423557;SAVANT_GENE=IL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL10" target="_blank">IL10</a>;SAVANT_INFO=-/4.9kb/5/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.378+19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL10+c.378+19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206944233">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,192:192:99:6632,579,0:127	1|1:0,188:188:99:6798,565,0:127	1|1:0,135:135:99:4981,406,0:127
1	206946407	.	T	G	46174.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=573;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1800872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800872" target="_blank">rs1800872</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Advanced_liver_disease_in_drinkers|_association;hgmd_2014.2.OMIM_ID=124092;hgmd_2014.2.PubMed=10716685;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10716685" target="_blank">10716685</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10716685" target="_blank">10716685</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:206946407">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,172:172:99:5911,517,0:127	1|1:0,220:220:99:7681,661,0:127	1|1:0,181:181:99:6150,544,0:127
1	207014472	.	A	C	6660.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2243188;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243188" target="_blank">rs2243188</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Vitiligo|_association_with;hgmd_2014.2.OMIM_ID=605687;hgmd_2014.2.PubMed=20699607;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20699607" target="_blank">20699607</a>;ExAC.Info.AC=87343;ExAC.Info.AN=126682;ExAC.Info.AF=0.689;ExAC.Info.AC_Het=25179;ExAC.Info.AC_Hom=30118;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.552+49A>C;snpeff.Amino_Acid_length=215;snpeff.Gene_Name=IL19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL19" target="_blank">IL19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340758;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340758;SAVANT_GENE=IL19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL19" target="_blank">IL19</a>;SAVANT_INFO=+/44.1kb/6/1.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.552+49A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL19+c.552+49A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207014472">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,18:34:99:398,0,481:127	1|1:0,56:56:99:1877,168,0:127	0|1:17,28:45:99:748,0,550:127
1	207015957	.	T	C	11489.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2243191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243191" target="_blank">rs2243191</a>;ExAC.Info.AC=80006;ExAC.Info.AN=118578;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=9735;ExAC.Info.AC_Hom=13430;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tCc;snpeff.Amino_Acid_Change=p.Phe213Ser/c.638T>C;snpeff.Amino_Acid_length=215;snpeff.Gene_Name=IL19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL19" target="_blank">IL19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340758;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340758;SAVANT_GENE=IL19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL19" target="_blank">IL19</a>;SAVANT_INFO=+/44.1kb/6/1.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.638T>C_p.Phe213Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL19+c.638T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207015957">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,37:80:99:968,0,1100:127	1|1:0,83:83:99:3034,249,0:127	0|1:38,28:66:99:787,0,1017:127
1	207074905	.	T	C	10785.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1150258;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1150258" target="_blank">rs1150258</a>;ExAC.Info.AC=50196;ExAC.Info.AN=126702;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=29044;ExAC.Info.AC_Hom=10562;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Cac;snpeff.Amino_Acid_Change=p.Tyr125His/c.373T>C;snpeff.Amino_Acid_length=207;snpeff.Gene_Name=IL24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL24" target="_blank">IL24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391929;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391929;SAVANT_GENE=IL24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL24" target="_blank">IL24</a>;SAVANT_INFO=+/6.0kb/7/1.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.373T>C_p.Tyr125His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL24+c.373T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207074905">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,33:79:99:960,0,1287:127	0/1:61,62:123:99:1868,0,1870:127	0/1:39,44:83:99:1381,0,1064:127
1	207087053	.	A	G	5356.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs72758947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72758947" target="_blank">rs72758947</a>;ExAC.Info.AC=15106;ExAC.Info.AN=126586;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=12868;ExAC.Info.AC_Hom=955;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.373+51T>C;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=FAIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAIM3" target="_blank">FAIM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367091;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=FAIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAIM3" target="_blank">FAIM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367091;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=FAIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAIM3" target="_blank">FAIM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367091;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=FAIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAIM3" target="_blank">FAIM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367091;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=FAIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAIM3" target="_blank">FAIM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367091;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367091;SAVANT_GENE=FAIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAIM3" target="_blank">FAIM3</a>;SAVANT_INFO=-/17.6kb/8/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.373+51T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAIM3+c.373+51T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207087053">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,27:58:99:838,0,812:127	0/1:32,33:65:99:905,0,868:127	0/1:35,24:59:99:689,0,917:127
1	207091138	.	AT	A	351.89	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=19;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.38-3700delA;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=FAIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAIM3" target="_blank">FAIM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367091;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.38delT;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=FAIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAIM3" target="_blank">FAIM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367091;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.38delT;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=FAIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAIM3" target="_blank">FAIM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367091;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367091;SAVANT_GENE=FAIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAIM3" target="_blank">FAIM3</a>;SAVANT_INFO=-/17.6kb/8/1.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.38-3700delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAIM3+c.38-3700delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207091138">View</a>	GT:AD:DP:GQ:PL:TP	0/1:2,6:8:27:89,0,27:26	0/1:3,3:6:42:42,0,47:26	0/1:2,3:5:34:59,0,34:26
1	207109116	.	C	T	16213.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275531" target="_blank">rs2275531</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=48036;ExAC.Info.AN=126674;ExAC.Info.AF=0.379;ExAC.Info.AC_Het=28206;ExAC.Info.AC_Hom=9694;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly365Ser/c.1093G>A;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356495;SAVANT_GENE=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;SAVANT_INFO=-/17.9kb/11/4.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1093G>A_p.Gly365Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIGR+c.1093G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207109116">View</a>	GT:AD:DP:GQ:PL:TP	0/1:64,72:136:99:2048,0,1838:127	0/1:74,90:164:99:2559,0,2257:127	0/1:50,84:134:99:2449,0,1499:127
1	207109167	.	G	A	15560.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6695632;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6695632" target="_blank">rs6695632</a>;ExAC.Info.AC=47036;ExAC.Info.AN=126410;ExAC.Info.AF=0.372;ExAC.Info.AC_Het=26762;ExAC.Info.AC_Hom=8923;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1046-4C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046G>A;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046G>A;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046G>A;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046G>A;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046G>A;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046G>A;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046G>A;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046G>A;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356495;SAVANT_GENE=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;SAVANT_INFO=-/17.9kb/11/4.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1046-4C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIGR+c.1046-4C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207109167">View</a>	GT:AD:DP:GQ:PL:TP	0/1:52,66:118:99:1814,0,1621:127	0/1:75,89:164:99:2660,0,2355:127	0/1:50,86:136:99:2589,0,1447:127
1	207110363	.	A	G	10625.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=350;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs748140;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=748140" target="_blank">rs748140</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1045+77T>C;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1046A>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356495;SAVANT_GENE=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;SAVANT_INFO=-/17.9kb/11/4.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1045+77T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIGR+c.1045+77T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207110363">View</a>	GT:AD:DP:GQ:PL:TP	0/1:77,37:114:99:1070,0,2205:127	0/1:59,73:132:99:2129,0,1666:127	0/1:58,46:104:99:1333,0,1632:127
1	207110936	.	T	C	9300.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs291096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=291096" target="_blank">rs291096</a>;ExAC.Info.AC=59821;ExAC.Info.AN=126700;ExAC.Info.AF=0.472;ExAC.Info.AC_Het=28951;ExAC.Info.AC_Hom=15282;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.549T>C;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_V-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.549T>C;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.549T>C;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.549T>C;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.549T>C;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.549T>C;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.549T>C;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.549T>C;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val183Val/c.549A>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356495;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356495;SAVANT_GENE=PIGR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGR" target="_blank">PIGR</a>;SAVANT_INFO=-/17.9kb/11/4.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.549A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIGR+c.549A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207110936">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,39:75:99:1334,0,888:127	0/1:51,55:106:99:1624,0,1369:127	0/1:31,32:63:99:986,0,902:127
1	207132345	.	A	G	10171.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7556372;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7556372" target="_blank">rs7556372</a>;ExAC.Info.AC=9955;ExAC.Info.AN=26346;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=4211;ExAC.Info.AC_Hom=1936;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1574-324T>C;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324852;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324852;SAVANT_GENE=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;SAVANT_INFO=-/12.5kb/8/2.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1574-324T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCAMR+c.1574-324T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207132345">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,54:110:99:1525,0,1367:127	0/1:41,48:89:99:1408,0,1169:127	0/1:43,48:91:99:1366,0,1137:127
1	207134104	.	G	T	4305.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=404;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61729352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61729352" target="_blank">rs61729352</a>;ExAC.Info.AC=494;ExAC.Info.AN=30202;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=469;ExAC.Info.AC_Hom=6;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cta/Ata;snpeff.Amino_Acid_Change=p.Leu373Ile/c.1117C>A;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324852;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324852;SAVANT_GENE=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;SAVANT_INFO=-/12.5kb/8/2.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1117C>A_p.Leu373Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCAMR+c.1117C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207134104">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,345,4144:127	0|1:76,78:154:99:2172,0,2235:127	0|0:135,0:135:99:0,406,5025:127
1	207135546	.	G	A	6258.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1572808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1572808" target="_blank">rs1572808</a>;ExAC.Info.AC=34055;ExAC.Info.AN=125070;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=22422;ExAC.Info.AC_Hom=5740;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.652+12C>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324852;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324852;SAVANT_GENE=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;SAVANT_INFO=-/12.5kb/8/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.652+12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCAMR+c.652+12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207135546">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,29:56:99:851,0,738:127	1|0:30,65:95:99:1932,0,767:127	0|0:79,0:79:99:0,237,2621:127
1	207140440	.	C	T	1308.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11119933;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11119933" target="_blank">rs11119933</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=24539;ExAC.Info.AN=124984;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=19093;ExAC.Info.AC_Hom=2656;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala42Ala/c.126G>A;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324852;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324852;SAVANT_GENE=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;SAVANT_INFO=-/12.5kb/8/2.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.126G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCAMR+c.126G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207140440">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1633:127	0|0:59,0:59:99:0,177,2088:127	0|1:23,23:46:99:673,0,620:127
1	207143422	.	A	G	5347.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1856746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1856746" target="_blank">rs1856746</a>;ExAC.Info.AC=58777;ExAC.Info.AN=124950;ExAC.Info.AF=0.470;ExAC.Info.AC_Het=28617;ExAC.Info.AC_Hom=14999;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.39+10T>C;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324852;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324852;SAVANT_GENE=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;SAVANT_INFO=-/12.5kb/8/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.39+10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCAMR+c.39+10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207143422">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,30:68:99:748,0,1091:127	0/1:32,39:71:99:1033,0,911:127	0/1:23,17:40:99:461,0,686:127
1	207143550	.	C	T	1822.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1340232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1340232" target="_blank">rs1340232</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=80;snpeff.Amino_Acid_Change=c.-80G>A;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324852;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324852;SAVANT_GENE=FCAMR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FCAMR" target="_blank">FCAMR</a>;SAVANT_INFO=-/12.5kb/8/2.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-80G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FCAMR+c.-80G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207143550">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,270,3079:127	0|0:94,0:94:99:0,282,3260:127	0|1:38,37:75:99:930,0,1010:127
1	207195779	.	A	G	24681.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2842726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2842726" target="_blank">rs2842726</a>;ExAC.Info.AC=125176;ExAC.Info.AN=126698;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1488;ExAC.Info.AC_Hom=61688;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Cct;snpeff.Amino_Acid_Change=p.Ser444Pro/c.1330T>C;snpeff.Amino_Acid_length=601;snpeff.Gene_Name=C1orf116;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf116" target="_blank">C1orf116</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359470;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359470;SAVANT_GENE=C1orf116;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf116" target="_blank">C1orf116</a>;SAVANT_INFO=-/14.2kb/4/5.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1330T>C_p.Ser444Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf116+c.1330T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207195779">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2858,240,0:127	1|1:0,89:89:99:3237,268,0:127	1|1:0,95:95:99:3473,286,0:127
1	207235954	.	G	A	25672.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=578;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2075863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075863" target="_blank">rs2075863</a>;ExAC.Info.AC=44456;ExAC.Info.AN=126688;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=27355;ExAC.Info.AC_Hom=8527;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.212-11G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.212G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.212G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.212G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.212G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.212G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.212G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.212G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.212G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367080;SAVANT_GENE=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;SAVANT_INFO=+/24.6kb/15/7.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.212-11G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKFB2+c.212-11G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207235954">View</a>	GT:AD:DP:GQ:PL:TP	0|1:96,88:184:99:2189,0,2698:127	1|1:1,209:210:99:6673,586,0:127	0|1:94,90:184:99:2383,0,2631:127
1	207238419	.	C	T	6383.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs72741390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72741390" target="_blank">rs72741390</a>;ExAC.Info.AC=25735;ExAC.Info.AN=126704;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=19198;ExAC.Info.AC_Hom=3260;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:6-phosphofructo-2-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.546C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn182Asn/c.546C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367080;SAVANT_GENE=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;SAVANT_INFO=+/24.6kb/15/7.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.546C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKFB2+c.546C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207238419">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,28:62:99:774,0,1066:127	1|1:0,70:70:99:2353,210,0:127	0|0:63,0:63:99:0,189,2324:127
1	207243851	.	A	G	1789.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs923109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=923109" target="_blank">rs923109</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1222+97A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Fructose-2_6-bisphosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Fructose-2_6-bisphosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Fructose-2_6-bisphosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Fructose-2_6-bisphosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Fructose-2_6-bisphosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Fructose-2_6-bisphosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Fructose-2_6-bisphosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1223A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367080;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367080;SAVANT_GENE=PFKFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB2" target="_blank">PFKFB2</a>;SAVANT_INFO=+/24.6kb/15/7.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1222+97A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKFB2+c.1222+97A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207243851">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,5:14:99:156,0,241:41	0|0:17,0:17:51:0,51,577:41	1|1:0,14:14:42:530,42,0:41
1	207262980	.	T	G	5874.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12711513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12711513" target="_blank">rs12711513</a>;ExAC.Info.AC=71278;ExAC.Info.AN=126698;ExAC.Info.AF=0.563;ExAC.Info.AC_Het=29182;ExAC.Info.AC_Hom=20845;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+46T>G;snpeff.Amino_Acid_length=252;snpeff.Gene_Name=C4BPB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPB" target="_blank">C4BPB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243611;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000243611;SAVANT_GENE=C4BPB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPB" target="_blank">C4BPB</a>;SAVANT_INFO=+/10.8kb/6/1.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.58+46T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C4BPB+c.58+46T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207262980">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,0:95:99:0,285,3199:127	0|1:53,51:104:99:1428,0,1540:127	0|1:49,52:101:99:1529,0,1405:127
1	207263829	.	A	G	5682.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6690037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6690037" target="_blank">rs6690037</a>;ExAC.Info.AC=63256;ExAC.Info.AN=126666;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=28731;ExAC.Info.AC_Hom=17130;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.232+3A>G;snpeff.Amino_Acid_length=252;snpeff.Gene_Name=C4BPB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPB" target="_blank">C4BPB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243611;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.233A>G;snpeff.Amino_Acid_length=252;snpeff.Gene_Name=C4BPB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPB" target="_blank">C4BPB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243611;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000243611;SAVANT_GENE=C4BPB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPB" target="_blank">C4BPB</a>;SAVANT_INFO=+/10.8kb/6/1.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.232+3A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C4BPB+c.232+3A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207263829">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,189,2010:127	0|1:55,54:109:99:1632,0,1340:127	0|1:40,43:83:99:1229,0,1060:127
1	207269919	.	C	T	5111.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs8942;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8942" target="_blank">rs8942</a>;ExAC.Info.AC=30554;ExAC.Info.AN=126690;ExAC.Info.AF=0.241;ExAC.Info.AC_Het=19268;ExAC.Info.AC_Hom=5598;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn154Asn/c.462C>T;snpeff.Amino_Acid_length=252;snpeff.Gene_Name=C4BPB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPB" target="_blank">C4BPB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243611;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000243611;SAVANT_GENE=C4BPB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPB" target="_blank">C4BPB</a>;SAVANT_INFO=+/10.8kb/6/1.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.462C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C4BPB+c.462C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207269919">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,46:86:99:1253,0,1009:127	1|0:54,25:79:99:647,0,1731:127	0|0:81,0:81:99:0,243,2963:127
1	207286381	.	C	A	3534.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55867570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55867570" target="_blank">rs55867570</a>;ExAC.Info.AC=5131;ExAC.Info.AN=126686;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4769;ExAC.Info.AC_Hom=166;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11C>A;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11C>A;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cAa;snpeff.Amino_Acid_Change=p.Pro4Gln/c.11C>A;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367070;SAVANT_GENE=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;SAVANT_INFO=+/40.7kb/12/2.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.11C>A_p.Pro4Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C4BPA+c.11C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207286381">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,26:48:99:598,0,642:104	1|0:43,34:77:99:721,0,1337:104	0|0:35,0:35:99:0,105,1304:104
1	207297680	.	T	C	29007.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1126618;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1126618" target="_blank">rs1126618</a>;ExAC.Info.AC=108184;ExAC.Info.AN=126680;ExAC.Info.AF=0.854;ExAC.Info.AC_Het=15427;ExAC.Info.AC_Hom=46290;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.675T>C;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.675T>C;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.675T>C;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly225Gly/c.675T>C;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367070;SAVANT_GENE=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;SAVANT_INFO=+/40.7kb/12/2.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.675T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C4BPA+c.675T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207297680">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,139:139:99:4588,417,0:127	1|1:0,143:143:99:4571,428,0:127	1|1:0,116:116:99:3776,348,0:127
1	207300070	.	G	A	7294.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs45574833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45574833" target="_blank">rs45574833</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Haemolytic_uraemic_syndrome|_atypical|_association_with;hgmd_2014.2.OMIM_ID=120830;hgmd_2014.2.PubMed=18424762;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=18424762" target="_blank">18424762</a>;ExAC.Info.AC=1835;ExAC.Info.AN=126694;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1775;ExAC.Info.AC_Hom=29;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.719G>A;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.719G>A;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg240His/c.719G>A;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367070;SAVANT_GENE=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;SAVANT_INFO=+/40.7kb/12/2.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.719G>A_p.Arg240His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C4BPA+c.719G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207300070">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,51:94:99:1492,0,1130:127	0|0:141,1:142:99:0,416,4650:127	1|0:71,52:123:99:1571,0,1923:127
1	207300259	.	A	G	9191.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2491393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2491393" target="_blank">rs2491393</a>;ExAC.Info.AC=47694;ExAC.Info.AN=126646;ExAC.Info.AF=0.377;ExAC.Info.AC_Het=28842;ExAC.Info.AC_Hom=9361;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.889+19A>G;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.890A>G;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.890A>G;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.890A>G;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367070;SAVANT_GENE=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;SAVANT_INFO=+/40.7kb/12/2.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.889+19A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C4BPA+c.889+19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207300259">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,45:69:99:1355,0,763:127	1|1:0,87:87:99:3098,261,0:127	0|0:75,0:75:99:0,225,2707:127
1	207304900	.	T	C	12162.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4844573;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4844573" target="_blank">rs4844573</a>;ExAC.Info.AC=50176;ExAC.Info.AN=126626;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=28085;ExAC.Info.AC_Hom=10897;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.899T>C;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.899T>C;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.899T>C;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.899T>C;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile300Thr/c.899T>C;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367070;SAVANT_GENE=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;SAVANT_INFO=+/40.7kb/12/2.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.899T>C_p.Ile300Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C4BPA+c.899T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207304900">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,50:120:99:1481,0,1852:127	1|1:0,112:112:99:3963,336,0:127	0|0:105,1:106:99:0,278,3753:127
1	207314388	.	C	T	842.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12043615;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12043615" target="_blank">rs12043615</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1274-63C>T;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1274C>T;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1274C>T;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1274C>T;snpeff.Amino_Acid_length=597;snpeff.Gene_Name=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367070;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367070;SAVANT_GENE=C4BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C4BPA" target="_blank">C4BPA</a>;SAVANT_INFO=+/40.7kb/12/2.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1274-63C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C4BPA+c.1274-63C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207314388">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,965:74	0|0:35,0:35:99:0,105,1252:74	0|1:12,15:27:99:440,0,362:74
1	207504669	.	G	A	47678.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=826;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=[Blood_group_Cromer]|_613793_(3);dbSNP139.ID=rs2184476;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2184476" target="_blank">rs2184476</a>;ExAC.Info.AC=84556;ExAC.Info.AN=126694;ExAC.Info.AF=0.667;ExAC.Info.AC_Het=26906;ExAC.Info.AC_Hom=28798;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.853+28G>A;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=CD55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD55" target="_blank">CD55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367063;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314754;SAVANT_GENE=CD55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD55" target="_blank">CD55</a>;SAVANT_INFO=+/38.8kb/11/2.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.853+28G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD55+c.853+28G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207504669">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,237:237:99:7693,711,0:127	1|1:1,316:317:99:10632,943,0:127	1|0:130,142:272:99:3968,0,4077:127
1	207520376	.	T	C	2604.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_group_Cromer]|_613793_(3);dbSNP139.ID=rs2404781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2404781" target="_blank">rs2404781</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CD55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD55" target="_blank">CD55</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314754;SAVANT_GENE=CD55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD55" target="_blank">CD55</a>;SAVANT_INFO=+/38.8kb/11/2.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1199+6523T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD55+c.1199+6523T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207520376">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,18:45:99:526,0,757:127	0|0:47,0:47:99:0,141,1560:127	1|0:24,12:36:99:326,0,723:127
1	207627693	.	T	C	1002.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3813946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813946" target="_blank">rs3813946</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Increased_transcriptional_activity;hgmd_2014.2.OMIM_ID=120650;hgmd_2014.2.PubMed=17360460;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17360460" target="_blank">17360460</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=71;snpeff.Amino_Acid_Change=c.-71T>C;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367057;SAVANT_GENE=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;SAVANT_INFO=+/35.7kb/20/4.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-71T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR2+c.-71T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207627693">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1675:127	0|0:76,0:76:99:0,228,2464:127	0|1:25,18:43:99:520,0,757:127
1	207641840	.	C	T	4124.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=592;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2063143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2063143" target="_blank">rs2063143</a>;ExAC.Info.AC=21476;ExAC.Info.AN=126662;ExAC.Info.AF=0.170;ExAC.Info.AC_Het=17505;ExAC.Info.AC_Hom=1901;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.446-32C>T;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367057;SAVANT_GENE=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;SAVANT_INFO=+/35.7kb/20/4.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.446-32C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR2+c.446-32C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207641840">View</a>	GT:AD:DP:GQ:PL:TP	0|0:181,0:181:99:0,544,6454:127	0|0:231,0:231:99:0,693,8232:127	0|1:109,71:180:99:2081,0,3248:127
1	207646322	.	G	A	2424.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1048971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048971" target="_blank">rs1048971</a>;ExAC.Info.AC=44222;ExAC.Info.AN=126692;ExAC.Info.AF=0.349;ExAC.Info.AC_Het=26862;ExAC.Info.AC_Hom=8658;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1776G>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1776G>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu592Leu/c.1776G>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367057;SAVANT_GENE=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;SAVANT_INFO=+/35.7kb/20/4.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1776G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR2+c.1776G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207646322">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,304,3802:127	0|0:133,1:134:99:0,366,4825:127	0|1:60,46:106:99:1231,0,1966:127
1	207646462	.	G	A	2938.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=400;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17615;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17615" target="_blank">rs17615</a>;ExAC.Info.AC=34121;ExAC.Info.AN=126698;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=24237;ExAC.Info.AC_Hom=4931;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1916G>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser639Asn/c.1916G>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367057;SAVANT_GENE=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;SAVANT_INFO=+/35.7kb/20/4.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1916G>A_p.Ser639Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR2+c.1916G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207646462">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,355,4263:127	0|0:152,1:153:99:0,422,5365:127	0|1:72,57:129:99:1488,0,2280:127
1	207646898	.	T	C	9040.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=775;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4308977;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4308977" target="_blank">rs4308977</a>;ExAC.Info.AC=35402;ExAC.Info.AN=126704;ExAC.Info.AF=0.279;ExAC.Info.AC_Het=24526;ExAC.Info.AC_Hom=5433;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Cca;snpeff.Amino_Acid_Change=p.Ser663Pro/c.1987T>C;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367057;SAVANT_GENE=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;SAVANT_INFO=+/35.7kb/20/4.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1987T>C_p.Ser663Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR2+c.1987T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207646898">View</a>	GT:AD:DP:GQ:PL:TP	0|0:235,0:235:99:0,733,12964:127	0|0:303,0:303:99:0,942,17173:127	0|1:121,116:237:99:4539,0,6190:127
1	207646923	.	G	A	10790.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=907;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17616" target="_blank">rs17616</a>;ExAC.Info.AC=33892;ExAC.Info.AN=126702;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=24198;ExAC.Info.AC_Hom=4841;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg671His/c.2012G>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367057;SAVANT_GENE=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;SAVANT_INFO=+/35.7kb/20/4.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2012G>A_p.Arg671His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR2+c.2012G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207646923">View</a>	GT:AD:DP:GQ:PL:TP	0|0:284,0:284:99:0,863,14598:127	0|0:340,0:340:99:0,1041,18488:127	0|1:136,147:283:99:5414,0,6606:127
1	207649706	.	G	A	4304.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=551;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61754518;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61754518" target="_blank">rs61754518</a>;ExAC.Info.AC=151;ExAC.Info.AN=126694;ExAC.Info.AF=1.192e-03;ExAC.Info.AC_Het=149;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2844G>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2844G>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2844G>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu948Glu/c.2844G>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367057;SAVANT_GENE=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;SAVANT_INFO=+/35.7kb/20/4.2kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2844G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR2+c.2844G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207649706">View</a>	GT:AD:DP:GQ:PL:TP	0|0:160,1:161:99:0,447,5469:127	0|0:218,1:219:99:0,648,7586:127	0|1:93,78:171:99:2171,0,2841:127
1	207653364	.	A	G	16186.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=657;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17618;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17618" target="_blank">rs17618</a>;ExAC.Info.AC=8079;ExAC.Info.AN=126694;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=7509;ExAC.Info.AC_Hom=284;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3154A>G;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3154A>G;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile1052Val/c.3154A>G;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367057;SAVANT_GENE=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;SAVANT_INFO=+/35.7kb/20/4.2kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.3154A>G_p.Ile1052Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR2+c.3154A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207653364">View</a>	GT:AD:DP:GQ:PL:TP	1|0:96,120:216:99:3617,0,2644:127	0|0:229,2:231:99:0,649,8044:127	1|0:97,113:210:99:3377,0,2807:127
1	207653395	.	C	A	26564.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=644;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17617;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17617" target="_blank">rs17617</a>;ExAC.Info.AC=111878;ExAC.Info.AN=126672;ExAC.Info.AF=0.883;ExAC.Info.AC_Het=12591;ExAC.Info.AC_Hom=49524;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3185C>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3185C>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gAa;snpeff.Amino_Acid_Change=p.Ala1062Glu/c.3185C>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367057;SAVANT_GENE=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;SAVANT_INFO=+/35.7kb/20/4.2kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.3185C>A_p.Ala1062Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR2+c.3185C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207653395">View</a>	GT:AD:DP:GQ:PL:TP	0|1:124,94:218:99:2410,0,3736:127	1|1:1,220:221:99:7637,619,0:127	0|1:120,85:205:99:2310,0,3676:127
1	207653444	.	T	A	3814.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=536;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17258996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17258996" target="_blank">rs17258996</a>;ExAC.Info.AC=21206;ExAC.Info.AN=126648;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=17284;ExAC.Info.AC_Hom=1858;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3188+46T>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3189T>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3189T>A;snpeff.Amino_Acid_length=1092;snpeff.Gene_Name=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367057;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367057;SAVANT_GENE=CR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR2" target="_blank">CR2</a>;SAVANT_INFO=+/35.7kb/20/4.2kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.3188+46T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR2+c.3188+46T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207653444">View</a>	GT:AD:DP:GQ:PL:TP	0|0:162,0:162:99:0,487,5375:127	0|0:183,2:185:99:0,506,6121:127	0|1:115,74:189:99:1926,0,3289:127
1	207669774	.	A	G	674.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=CR1_deficiency_(1)|_{?SLE_susceptibility}_(1)|_[Blood_group|_Knops_system]|_607486_(3)|_{Malaria|_severe|_resistance_to}|_611162_(3);dbSNP139.ID=rs377520654;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=377520654" target="_blank">rs377520654</a>;ExAC.Info.AC=1013;ExAC.Info.AN=117218;ExAC.Info.AF=8.642e-03;ExAC.Info.AC_Het=658;ExAC.Info.AC_Hom=4;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.121+41A>G;snpeff.Amino_Acid_length=2489;snpeff.Gene_Name=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367049;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367049;SAVANT_GENE=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;SAVANT_INFO=+/143.1kb/47/7.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.121+41A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1+c.121+41A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207669774">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,728:52	0|1:10,10:20:99:356,0,346:52	0|0:18,0:18:54:0,54,729:52
1	207753831	.	CT	C	563.97	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=151;MQ=70.06;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=CR1_deficiency_(1)|_{?SLE_susceptibility}_(1)|_[Blood_group|_Knops_system]|_607486_(3)|_{Malaria|_severe|_resistance_to}|_611162_(3);snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-78B10.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-78B102" target="_blank">RP11-78B102</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5114-24delT;snpeff.Amino_Acid_length=2489;snpeff.Gene_Name=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-78B102" target="_blank">RP11-78B102</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367049;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367049;SAVANT_GENE=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;SAVANT_INFO=+/143.1kb/47/7.5kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.5114-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1+c.5114-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207753831">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,5:41:35:0,35,779:26	0|1:47,19:66:99:235,0,956:26	0|1:38,6:44:27:27,0,802:26
1	207760772	.	A	G	20964.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=952;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=CR1_deficiency_(1)|_{?SLE_susceptibility}_(1)|_[Blood_group|_Knops_system]|_607486_(3)|_{Malaria|_severe|_resistance_to}|_611162_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|D|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61734514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61734514" target="_blank">rs61734514</a>;ExAC.Info.AC=2328;ExAC.Info.AN=124832;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2258;ExAC.Info.AC_Hom=34;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-78B10.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-78B102" target="_blank">RP11-78B102</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acg/Gcg;snpeff.Amino_Acid_Change=p.Thr1858Ala/c.5572A>G;snpeff.Amino_Acid_length=2489;snpeff.Gene_Name=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-78B102" target="_blank">RP11-78B102</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367049;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367049;SAVANT_GENE=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;SAVANT_INFO=+/143.1kb/47/7.5kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.5572A>G_p.Thr1858Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1+c.5572A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207760772">View</a>	GT:AD:DP:GQ:PL:TP	0|1:176,139:315:99:3674,0,4637:127	1|0:150,188:338:99:5682,0,3841:127	0|0:299,0:299:99:0,898,9862:127
1	207760773	.	C	T	31229.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=950;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=CR1_deficiency_(1)|_{?SLE_susceptibility}_(1)|_[Blood_group|_Knops_system]|_607486_(3)|_{Malaria|_severe|_resistance_to}|_611162_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3737002;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737002" target="_blank">rs3737002</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Knops_blood_group_variation;hgmd_2014.2.OMIM_ID=120620;hgmd_2014.2.PubMed=21214579;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21214579" target="_blank">21214579</a>;ExAC.Info.AC=34351;ExAC.Info.AN=124814;ExAC.Info.AF=0.275;ExAC.Info.AC_Het=24085;ExAC.Info.AC_Hom=5117;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-78B10.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-78B102" target="_blank">RP11-78B102</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr1858Met/c.5573C>T;snpeff.Amino_Acid_length=2489;snpeff.Gene_Name=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-78B102" target="_blank">RP11-78B102</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367049;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367049;SAVANT_GENE=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;SAVANT_INFO=+/143.1kb/47/7.5kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.5573C>T_p.Thr1858Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1+c.5573C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207760773">View</a>	GT:AD:DP:GQ:PL:TP	0|1:178,136:314:99:3333,0,4991:127	1|1:1,336:337:99:11261,971,0:127	0|0:299,0:299:99:0,898,10118:127
1	207782707	.	A	G	20206.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=CR1_deficiency_(1)|_{?SLE_susceptibility}_(1)|_[Blood_group|_Knops_system]|_607486_(3)|_{Malaria|_severe|_resistance_to}|_611162_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17259045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17259045" target="_blank">rs17259045</a>;ExAC.Info.AC=11159;ExAC.Info.AN=125054;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=9855;ExAC.Info.AC_Hom=647;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn1990Ser/c.5969A>G;snpeff.Amino_Acid_length=2489;snpeff.Gene_Name=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367049;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367049;SAVANT_GENE=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;SAVANT_INFO=+/143.1kb/47/7.5kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.5969A>G_p.Asn1990Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1+c.5969A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207782707">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,81:152:99:2428,0,1999:127	1|1:0,173:173:99:6305,520,0:127	0|0:153,0:153:99:0,460,5457:127
1	207782916	.	A	T	57513.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=774;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=CR1_deficiency_(1)|_{?SLE_susceptibility}_(1)|_[Blood_group|_Knops_system]|_607486_(3)|_{Malaria|_severe|_resistance_to}|_611162_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4844609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4844609" target="_blank">rs4844609</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Knops_blood_group_variation;hgmd_2014.2.OMIM_ID=120620;hgmd_2014.2.PubMed=11896343;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11896343" target="_blank">11896343</a>;ExAC.Info.AC=122992;ExAC.Info.AN=124850;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1776;ExAC.Info.AC_Hom=60140;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Tcc;snpeff.Amino_Acid_Change=p.Thr2060Ser/c.6178A>T;snpeff.Amino_Acid_length=2489;snpeff.Gene_Name=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367049;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367049;SAVANT_GENE=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;SAVANT_INFO=+/143.1kb/47/7.5kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.6178A>T_p.Thr2060Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1+c.6178A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207782916">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,214:214:99:6945,643,0:127	1|1:0,314:314:99:10320,943,0:127	1|1:0,246:246:99:8416,739,0:127
1	207784968	.	A	G	33228.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=708;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=CR1_deficiency_(1)|_{?SLE_susceptibility}_(1)|_[Blood_group|_Knops_system]|_607486_(3)|_{Malaria|_severe|_resistance_to}|_611162_(3);dbSNP139.ID=rs3818361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818361" target="_blank">rs3818361</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6296-54A>G;snpeff.Amino_Acid_length=2489;snpeff.Gene_Name=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367049;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367049;SAVANT_GENE=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;SAVANT_INFO=+/143.1kb/47/7.5kb;SAVANT_LOC=In37/38;SAVANT_HGVS=c.6296-54A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1+c.6296-54A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207784968">View</a>	GT:AD:DP:GQ:PL:TP	0|1:129,109:238:99:3026,0,3508:127	1|1:0,249:249:99:8552,747,0:127	0|1:109,112:221:99:3251,0,3027:127
1	207795320	.	A	G	8578.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=CR1_deficiency_(1)|_{?SLE_susceptibility}_(1)|_[Blood_group|_Knops_system]|_607486_(3)|_{Malaria|_severe|_resistance_to}|_611162_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2296160;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296160" target="_blank">rs2296160</a>;ExAC.Info.AC=100486;ExAC.Info.AN=124406;ExAC.Info.AF=0.808;ExAC.Info.AC_Het=15899;ExAC.Info.AC_Hom=34537;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7255A>G;snpeff.Amino_Acid_length=2489;snpeff.Gene_Name=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367049;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr2419Ala/c.7255A>G;snpeff.Amino_Acid_length=2489;snpeff.Gene_Name=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367049;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367049;SAVANT_GENE=CR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1" target="_blank">CR1</a>;SAVANT_INFO=+/143.1kb/47/7.5kb;SAVANT_LOC=Ex44;SAVANT_HGVS=c.7255A>G_p.Thr2419Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1+c.7255A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207795320">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,30:61:99:950,0,749:127	1|1:0,57:57:99:2135,171,0:127	0|1:40,24:64:99:678,0,1043:127
1	207818719	.	G	A	1718.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11118237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11118237" target="_blank">rs11118237</a>;ExAC.Info.AC=45139;ExAC.Info.AN=126624;ExAC.Info.AF=0.356;ExAC.Info.AC_Het=28243;ExAC.Info.AC_Hom=8242;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.97+44G>A;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.97+44G>A;snpeff.Gene_Name=CD46P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000441364;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98G>A;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98G>A;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.98G>A;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000508064;SAVANT_GENE=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;SAVANT_INFO=+/78.5kb/12/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.97+44G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1L+c.97+44G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207818719">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,1:63:99:0,152,2221:127	0|0:80,0:80:99:0,240,2811:127	0|1:44,32:76:99:878,0,1338:127
1	207850879	.	C	T	7108.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=841;MQ=69.93;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34509370;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34509370" target="_blank">rs34509370</a>;ExAC.Info.AC=23360;ExAC.Info.AN=124854;ExAC.Info.AF=0.187;ExAC.Info.AC_Het=18081;ExAC.Info.AC_Hom=2631;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn81Asn/c.243C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000508064;SAVANT_GENE=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;SAVANT_INFO=+/78.5kb/12/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.243C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1L+c.243C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207850879">View</a>	GT:AD:DP:GQ:PL:TP	0|0:278,0:278:99:0,835,9987:127	0|0:301,0:301:99:0,904,10563:127	0|1:130,132:262:99:3573,0,3956:127
1	207851611	.	A	G	6284.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=577;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2296158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296158" target="_blank">rs2296158</a>;ExAC.Info.AC=64427;ExAC.Info.AN=124844;ExAC.Info.AF=0.516;ExAC.Info.AC_Het=30504;ExAC.Info.AC_Hom=16944;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg116Gly/c.346A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000508064;SAVANT_GENE=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;SAVANT_INFO=+/78.5kb/12/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.346A>G_p.Arg116Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1L+c.346A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207851611">View</a>	GT:AD:DP:GQ:PL:TP	0|0:180,1:181:99:0,502,6218:127	0|0:184,0:184:99:0,552,6329:127	0|1:98,114:212:99:3161,0,2707:127
1	207872595	.	A	G	5628.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=825;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12729569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12729569" target="_blank">rs12729569</a>;ExAC.Info.AC=23548;ExAC.Info.AN=124896;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=18248;ExAC.Info.AC_Hom=2643;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1204A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1204A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1204A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1204A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1204A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn402Asp/c.1204A>G;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000508064;SAVANT_GENE=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;SAVANT_INFO=+/78.5kb/12/1.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1204A>G_p.Asn402Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1L+c.1204A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207872595">View</a>	GT:AD:DP:GQ:PL:TP	0|0:285,0:285:99:0,855,9036:127	0|0:301,0:301:99:0,904,9908:127	0|1:140,99:239:99:2833,0,3835:127
1	207872657	.	C	T	6614.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1026;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12748243;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12748243" target="_blank">rs12748243</a>;ExAC.Info.AC=23526;ExAC.Info.AN=124936;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=18230;ExAC.Info.AC_Hom=2616;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1228+38C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1229C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1229C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1229C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000508064;SAVANT_GENE=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;SAVANT_INFO=+/78.5kb/12/1.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1228+38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1L+c.1228+38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207872657">View</a>	GT:AD:DP:GQ:PL:TP	0|0:366,0:366:99:0,1099,11998:127	0|0:376,0:376:99:0,1129,12781:127	0|1:158,126:284:99:3326,0,4595:127
1	207888626	.	C	T	9565.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=370;MQ=68.15;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6677310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6677310" target="_blank">rs6677310</a>;ExAC.Info.AC=30151;ExAC.Info.AN=124812;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=21416;ExAC.Info.AC_Hom=3616;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1415-2183C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1415C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1415C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1415C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000508064;SAVANT_GENE=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;SAVANT_INFO=+/78.5kb/12/1.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1415-2183C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1L+c.1415-2183C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207888626">View</a>	GT:AD:DP:GQ:PL:TP	0/1:74,66:140:99:1743,0,2211:127	0/1:80,49:129:99:1209,0,2550:127	0/1:58,43:101:99:1160,0,1848:127
1	207888704	.	T	C	12550.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=458;MQ=64.92;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2796255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2796255" target="_blank">rs2796255</a>;ExAC.Info.AC=30646;ExAC.Info.AN=124880;ExAC.Info.AF=0.245;ExAC.Info.AC_Het=22129;ExAC.Info.AC_Hom=4185;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1415-2105T>C;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1415T>C;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1415T>C;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1415T>C;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000508064;SAVANT_GENE=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;SAVANT_INFO=+/78.5kb/12/1.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1415-2105T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1L+c.1415-2105T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207888704">View</a>	GT:AD:DP:GQ:PL:TP	0/1:87,74:161:99:2036,0,2421:127	0/1:93,74:167:99:2000,0,2750:127	0/1:74,56:130:99:1568,0,2092:127
1	207890866	.	T	C	50431.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=659;MQ=69.04;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2796257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2796257" target="_blank">rs2796257</a>;ExAC.Info.AC=48066;ExAC.Info.AN=124948;ExAC.Info.AF=0.385;ExAC.Info.AC_Het=27590;ExAC.Info.AC_Hom=10226;snpeff.Effect=sequence_feature[domain:Sushi_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1472T>C;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTt/cCt;snpeff.Amino_Acid_Change=p.Leu491Pro/c.1472T>C;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000508064;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000508064;SAVANT_GENE=CR1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CR1L" target="_blank">CR1L</a>;SAVANT_INFO=+/78.5kb/12/1.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1472T>C_p.Leu491Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CR1L+c.1472T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207890866">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,229:229:99:7749,688,0:127	1|1:0,213:213:99:7373,639,0:127	1|1:0,217:217:99:7584,652,0:127
1	207934487	.	A	C	34245.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=579;MQ=66.63;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2466572;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2466572" target="_blank">rs2466572</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.476-107A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.476A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322875;SAVANT_GENE=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;SAVANT_INFO=+/43.5kb/13/3.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.476-107A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD46+c.476-107A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207934487">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:5870,508,0:127	1|0:101,94:195:99:2724,0,2873:127	1|1:0,215:215:99:7658,646,0:127
1	207941191	.	G	T	34708.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=619;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2724374;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2724374" target="_blank">rs2724374</a>;ExAC.Info.AC=101412;ExAC.Info.AN=126688;ExAC.Info.AF=0.800;ExAC.Info.AC_Het=19564;ExAC.Info.AC_Hom=40762;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.946+23G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser/Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser/Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322875;SAVANT_GENE=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;SAVANT_INFO=+/43.5kb/13/3.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.946+23G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD46+c.946+23G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207941191">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,177:177:99:6036,532,0:127	1|0:115,114:229:99:3338,0,3467:127	1|1:0,213:213:99:7236,640,0:127
1	207959070	.	T	C	4270.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11118580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11118580" target="_blank">rs11118580</a>;ExAC.Info.AC=23054;ExAC.Info.AN=126698;ExAC.Info.AF=0.182;ExAC.Info.AC_Het=18058;ExAC.Info.AC_Hom=2493;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1127+43T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322875;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322875;SAVANT_GENE=CD46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD46" target="_blank">CD46</a>;SAVANT_INFO=+/43.5kb/13/3.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1127+43T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD46+c.1127+43T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207959070">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,367,3878:127	0|1:86,74:160:99:2154,0,2442:127	0|0:147,0:147:99:0,442,4910:127
1	207975949	.	T	C	874.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs56075814;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56075814" target="_blank">rs56075814</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.14059A>G;snpeff.Gene_Name=C1orf132;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf132" target="_blank">C1orf132</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608023;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf132" target="_blank">C1orf132</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf132+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:207975949">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1469:127	0|1:29,17:46:99:456,0,894:127	0|0:59,0:59:99:0,177,1891:127
1	208063100	.	G	GA	5430.13	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs5780411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5780411" target="_blank">rs5780411</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.598-134_598-135insT;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CD34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD34" target="_blank">CD34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310833;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_599insA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CD34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD34" target="_blank">CD34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310833;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_599insA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CD34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD34" target="_blank">CD34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310833;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_599insA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CD34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD34" target="_blank">CD34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310833;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_599insA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CD34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD34" target="_blank">CD34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310833;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_599insA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CD34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD34" target="_blank">CD34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310833;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_599insA;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CD34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD34" target="_blank">CD34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310833;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000310833;SAVANT_GENE=CD34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD34" target="_blank">CD34</a>;SAVANT_INFO=-/24.9kb/8/2.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.598-135dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD34+c.598-135dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208063100">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,28:69:99:483,0,839:4	0/1:45,40:85:99:695,0,887:4	0/1:8,57:65:2:1224,0,2:4
1	208084512	.	C	G	6025.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs55864664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55864664" target="_blank">rs55864664</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=87;snpeff.Amino_Acid_Change=c.-87G>C;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CD34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD34" target="_blank">CD34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000310833;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310833;SAVANT_GENE=CD34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD34" target="_blank">CD34</a>;SAVANT_INFO=-/24.9kb/8/2.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-87G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD34+c.-87G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208084512">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,28:80:99:722,0,1458:127	0|0:80,0:80:99:0,240,2630:127	1|0:28,42:70:99:1156,0,770:127
1	208207839	.	G	A	8967.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3736963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736963" target="_blank">rs3736963</a>;ExAC.Info.AC=64921;ExAC.Info.AN=126704;ExAC.Info.AF=0.512;ExAC.Info.AC_Het=29845;ExAC.Info.AC_Hom=17508;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr1621Tyr/c.4863C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4863C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367033;SAVANT_GENE=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;SAVANT_INFO=-/222.1kb/32/11.4kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.4863C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXNA2+c.4863C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208207839">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1362,105,0:71	1|1:0,42:42:99:1567,126,0:71	1|1:0,24:24:72:900,72,0:71
1	208212115	.	T	C	1216.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72739448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72739448" target="_blank">rs72739448</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4660+55A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367033;SAVANT_GENE=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;SAVANT_INFO=-/222.1kb/32/11.4kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.4660+55A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXNA2+c.4660+55A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208212115">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,154,3235:127	0|0:74,0:74:99:0,232,5036:127	0|1:28,17:45:99:627,0,1667:127
1	208212122	.	C	T	1288.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs80345877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80345877" target="_blank">rs80345877</a>;ExAC.Info.AC=5396;ExAC.Info.AN=126654;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=4696;ExAC.Info.AC_Hom=275;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4660+48G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4661C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367033;SAVANT_GENE=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;SAVANT_INFO=-/222.1kb/32/11.4kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.4660+48G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXNA2+c.4660+48G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208212122">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,166,3350:127	0|0:80,0:80:99:0,247,5255:127	0|1:31,18:49:99:663,0,1728:127
1	208213125	.	A	G	22280.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1751580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1751580" target="_blank">rs1751580</a>;ExAC.Info.AC=125099;ExAC.Info.AN=126702;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1361;ExAC.Info.AC_Hom=61787;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4354-13T>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4354A>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367033;SAVANT_GENE=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;SAVANT_INFO=-/222.1kb/32/11.4kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.4354-13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXNA2+c.4354-13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208213125">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2092,192,0:127	1|1:0,103:103:99:3471,308,0:127	1|1:0,82:82:99:2716,246,0:127
1	208252777	.	G	C	1176.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17011882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17011882" target="_blank">rs17011882</a>;ExAC.Info.AC=4794;ExAC.Info.AN=126458;ExAC.Info.AF=0.038;ExAC.Info.AC_Het=3911;ExAC.Info.AC_Hom=182;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2414G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gGa;snpeff.Amino_Acid_Change=p.Ala805Gly/c.2414C>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367033;SAVANT_GENE=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;SAVANT_INFO=-/222.1kb/32/11.4kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2414C>G_p.Ala805Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXNA2+c.2414C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208252777">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1628:127	0|0:72,0:72:99:0,216,2448:127	0|1:31,23:54:99:607,0,961:127
1	208270244	.	A	C	2110.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=61;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3818517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818517" target="_blank">rs3818517</a>;ExAC.Info.AC=42429;ExAC.Info.AN=126628;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=26694;ExAC.Info.AC_Hom=6822;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1732-16T>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1732A>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367033;SAVANT_GENE=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;SAVANT_INFO=-/222.1kb/32/11.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1732-16T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXNA2+c.1732-16T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208270244">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,7:20:99:222,0,427:127	0/1:8,11:19:99:324,0,228:127	0/1:11,11:22:99:298,0,318:127
1	208276399	.	C	CCTCT	27772.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=235;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10654695;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10654695" target="_blank">rs10654695</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1607+93_1607+92insAGAG;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1608_1609insCTCT;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367033;SAVANT_GENE=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;SAVANT_INFO=-/222.1kb/32/11.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1607+89_1607+92dupAGAG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXNA2+c.1607+89_1607+92dupAGAG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208276399">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:3690,252,0:127	1|1:0,102:102:99:4809,330,0:127	1|1:0,56:56:99:2697,186,0:127
1	208390086	.	G	C	2278.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1664227;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1664227" target="_blank">rs1664227</a>;ExAC.Info.AC=43349;ExAC.Info.AN=126680;ExAC.Info.AF=0.342;ExAC.Info.AC_Het=27834;ExAC.Info.AC_Hom=7605;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1182G>C;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acG;snpeff.Amino_Acid_Change=p.Thr394Thr/c.1182C>G;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367033;SAVANT_GENE=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;SAVANT_INFO=-/222.1kb/32/11.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1182C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXNA2+c.1182C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208390086">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2606:127	0|0:81,0:81:99:0,243,3010:127	0|1:42,46:88:99:1158,0,1263:127
1	208391085	.	G	A	4136.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12120681;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12120681" target="_blank">rs12120681</a>;ExAC.Info.AC=16747;ExAC.Info.AN=126704;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=14110;ExAC.Info.AC_Hom=1318;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala61Ala/c.183C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367033;SAVANT_GENE=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;SAVANT_INFO=-/222.1kb/32/11.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.183C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXNA2+c.183C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208391085">View</a>	GT:AD:DP:GQ:PL:TP	0|0:174,0:174:99:0,522,5683:127	0|0:165,0:165:99:0,495,5484:127	0|1:61,72:133:99:2087,0,1523:127
1	208391254	.	C	T	1026.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=176;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2782948;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2782948" target="_blank">rs2782948</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=42557;ExAC.Info.AN=125582;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=26513;ExAC.Info.AC_Hom=7281;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.14C>T;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg5Gln/c.14G>A;snpeff.Amino_Acid_length=1894;snpeff.Gene_Name=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367033;SAVANT_GENE=PLXNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXNA2" target="_blank">PLXNA2</a>;SAVANT_INFO=-/222.1kb/32/11.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.14G>A_p.Arg5Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXNA2+c.14G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:208391254">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,183,2092:127	0|0:63,0:63:99:0,189,2069:127	0|1:34,18:52:99:532,0,997:127
1	209785206	.	G	A	8511.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11119315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11119315" target="_blank">rs11119315</a>;ExAC.Info.AC=23872;ExAC.Info.AN=126704;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=18879;ExAC.Info.AC_Hom=2495;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val329Ile/c.985G>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CAMK1G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1G" target="_blank">CAMK1G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000009105;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000009105;SAVANT_GENE=CAMK1G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1G" target="_blank">CAMK1G</a>;SAVANT_INFO=+/30.2kb/13/2.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.985G>A_p.Val329Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMK1G+c.985G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209785206">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,44:70:99:1291,0,690:127	0/1:31,38:69:99:1141,0,894:127	0/1:40,43:83:99:1225,0,1127:127
1	209786078	.	G	A	15092.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2272880;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272880" target="_blank">rs2272880</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1341-52G>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=CAMK1G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1G" target="_blank">CAMK1G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000009105;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000009105;SAVANT_GENE=CAMK1G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1G" target="_blank">CAMK1G</a>;SAVANT_INFO=+/30.2kb/13/2.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1341-52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMK1G+c.1341-52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209786078">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1213,111,0:127	1|1:0,57:57:99:1971,171,0:127	1|1:0,66:66:99:2135,198,0:127
1	209788703	.	T	C	9596.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs1049607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1049607" target="_blank">rs1049607</a>;ExAC.Info.AC=50771;ExAC.Info.AN=126700;ExAC.Info.AF=0.401;ExAC.Info.AC_Het=29692;ExAC.Info.AC_Hom=10504;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser1144Ser/c.3432A>G;snpeff.Amino_Acid_length=1172;snpeff.Gene_Name=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356082;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391911;SAVANT_GENE=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;SAVANT_INFO=-/36.5kb/22/4.3kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.3432A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMB3+c.3432A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209788703">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,39:85:99:1085,0,1371:127	0/1:48,56:104:99:1587,0,1516:127	0/1:29,48:77:99:1463,0,871:127
1	209791488	.	C	G	3218.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs35864886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35864886" target="_blank">rs35864886</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2910-95G>C;snpeff.Amino_Acid_length=1172;snpeff.Gene_Name=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356082;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391911;SAVANT_GENE=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;SAVANT_INFO=-/36.5kb/22/4.3kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2910-95G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMB3+c.2910-95G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209791488">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,423,4770:127	0|1:92,58:150:99:1628,0,2675:127	0|0:154,0:154:99:0,463,5289:127
1	209792015	.	A	AC	19728.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=204;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs5780528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5780528" target="_blank">rs5780528</a>;ExAC.Info.AC=121087;ExAC.Info.AN=126688;ExAC.Info.AF=0.956;ExAC.Info.AC_Het=5131;ExAC.Info.AC_Hom=57108;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2702-11_2702-12insG;snpeff.Amino_Acid_length=1172;snpeff.Gene_Name=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356082;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000391911;SAVANT_GENE=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;SAVANT_INFO=-/36.5kb/22/4.3kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2702-12dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMB3+c.2702-12dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209792015">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2604,210,0:127	1|1:0,76:76:99:2839,229,0:127	1|1:0,58:58:99:2143,174,0:127
1	209796267	.	G	A	10287.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs3737913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737913" target="_blank">rs3737913</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2556+60C>T;snpeff.Amino_Acid_length=1172;snpeff.Gene_Name=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356082;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391911;SAVANT_GENE=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;SAVANT_INFO=-/36.5kb/22/4.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2556+60C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMB3+c.2556+60C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209796267">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,52:111:99:1352,0,1598:127	0/1:75,66:141:99:1595,0,2078:127	0/1:46,46:92:99:1249,0,1248:127
1	209799253	.	A	G	9021.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=249;MQ=69.96;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs2179402;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2179402" target="_blank">rs2179402</a>;ExAC.Info.AC=95391;ExAC.Info.AN=126614;ExAC.Info.AF=0.753;ExAC.Info.AC_Het=22773;ExAC.Info.AC_Hom=35560;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys572Cys/c.1716T>C;snpeff.Amino_Acid_length=1172;snpeff.Gene_Name=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356082;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391911;SAVANT_GENE=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;SAVANT_INFO=-/36.5kb/22/4.3kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1716T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMB3+c.1716T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209799253">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,41:87:99:1241,0,1191:127	0/1:37,44:81:99:1470,0,1010:127	0/1:42,39:81:99:1329,0,1251:127
1	209800976	.	C	T	5991.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs2072938;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072938" target="_blank">rs2072938</a>;ExAC.Info.AC=16321;ExAC.Info.AN=126540;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=12926;ExAC.Info.AC_Hom=1096;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1289-52G>A;snpeff.Amino_Acid_length=1172;snpeff.Gene_Name=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356082;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391911;SAVANT_GENE=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;SAVANT_INFO=-/36.5kb/22/4.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1289-52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMB3+c.1289-52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209800976">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,43:111:99:1056,0,1907:127	0/1:70,32:102:99:769,0,2250:127	0/1:55,27:82:99:631,0,1681:127
1	209804095	.	G	A	10802.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs4844863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4844863" target="_blank">rs4844863</a>;ExAC.Info.AC=107309;ExAC.Info.AN=126700;ExAC.Info.AF=0.847;ExAC.Info.AC_Het=16186;ExAC.Info.AC_Hom=45404;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.823-15C>T;snpeff.Amino_Acid_length=1172;snpeff.Gene_Name=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356082;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391911;SAVANT_GENE=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;SAVANT_INFO=-/36.5kb/22/4.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.823-15C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMB3+c.823-15C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209804095">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,46:95:99:1348,0,1331:127	0/1:54,69:123:99:2040,0,1450:127	0/1:48,37:85:99:1084,0,1422:127
1	209805895	.	C	G	15643.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=462;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs2072940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072940" target="_blank">rs2072940</a>;ExAC.Info.AC=16796;ExAC.Info.AN=126580;ExAC.Info.AF=0.133;ExAC.Info.AC_Het=14017;ExAC.Info.AC_Hom=1235;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.822+33G>C;snpeff.Amino_Acid_length=1172;snpeff.Gene_Name=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356082;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391911;SAVANT_GENE=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;SAVANT_INFO=-/36.5kb/22/4.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.822+33G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMB3+c.822+33G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209805895">View</a>	GT:AD:DP:GQ:PL:TP	0/1:75,78:153:99:2188,0,2136:127	0/1:94,90:184:99:2658,0,2786:127	0/1:51,74:125:99:2171,0,1383:127
1	209811886	.	T	G	7348.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_Herlitz_type|_226700_(3)|_Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs2076356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076356" target="_blank">rs2076356</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=72399;ExAC.Info.AN=126704;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=28796;ExAC.Info.AC_Hom=21787;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcC;snpeff.Amino_Acid_Change=p.Ser97Ser/c.291A>C;snpeff.Amino_Acid_length=1172;snpeff.Gene_Name=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356082;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391911;SAVANT_GENE=LAMB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB3" target="_blank">LAMB3</a>;SAVANT_INFO=-/36.5kb/22/4.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.291A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LAMB3+c.291A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209811886">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,30:57:99:878,0,781:127	0/1:29,33:62:99:986,0,807:127	0/1:22,34:56:99:1093,0,617:127
1	209849002	.	T	C	5622.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3817870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3817870" target="_blank">rs3817870</a>;ExAC.Info.AC=73476;ExAC.Info.AN=115220;ExAC.Info.AF=0.638;ExAC.Info.AC_Het=7482;ExAC.Info.AC_Hom=9070;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.97-12596A>G;snpeff.Gene_Name=RP1-28O10.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-28O101" target="_blank">RP1-28O101</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000441672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=28;snpeff.Amino_Acid_Change=c.-28T>C;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=G0S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-28O101" target="_blank">RP1-28O101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367029;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367029;SAVANT_GENE=G0S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=G0S2" target="_blank">G0S2</a>;SAVANT_INFO=+/1.0kb/2/0.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-28T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=G0S2+c.-28T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209849002">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,22:52:99:631,0,839:127	1|1:0,50:50:99:1880,150,0:127	0|0:48,0:48:99:0,144,1712:127
1	209880216	.	C	CA	4023.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=465;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Cortisone_reductase_deficiency_2|_614662_(3);dbSNP139.ID=rs72215241;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72215241" target="_blank">rs72215241</a>;ExAC.Info.AC=26311;ExAC.Info.AN=126702;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=20579;ExAC.Info.AC_Hom=2857;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.331+52_331+53insA;snpeff.Amino_Acid_length=292;snpeff.Gene_Name=HSD11B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD11B1" target="_blank">HSD11B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261465;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96+17159_96+17158insT;snpeff.Gene_Name=RP1-28O10.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD11B1" target="_blank">HSD11B1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000441672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000261465;SAVANT_GENE=HSD11B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD11B1" target="_blank">HSD11B1</a>;SAVANT_INFO=+/48.7kb/7/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.331+53dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD11B1+c.331+53dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209880216">View</a>	GT:AD:DP:GQ:PL:TP	0|0:146,1:147:99:0,407,5175:127	0|0:176,0:176:99:0,530,6280:127	0|1:74,68:142:99:2035,0,2183:127
1	209880259	.	T	G	5418.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=602;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Cortisone_reductase_deficiency_2|_614662_(3);dbSNP139.ID=rs12086634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12086634" target="_blank">rs12086634</a>;hgmd_2014.2.CLASS=DM;hgmd_2014.2.PHEN=Cortisone_reductase_deficiency;hgmd_2014.2.OMIM_ID=600713;hgmd_2014.2.PubMed=12858176;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12858176" target="_blank">12858176</a>;ExAC.Info.AC=26266;ExAC.Info.AN=126704;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=20550;ExAC.Info.AC_Hom=2849;Clinvar.ClinicalSignificance=Uncertain_significance;Clinvar.RCVaccession=RCV000009466;Clinvar.PhenotypeIDs=MedGen:CN125023|OMIM:614662|Orphanet:ORPHA168588;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.332-29T>G;snpeff.Amino_Acid_length=292;snpeff.Gene_Name=HSD11B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD11B1" target="_blank">HSD11B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261465;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96+17116A>C;snpeff.Gene_Name=RP1-28O10.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD11B1" target="_blank">HSD11B1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000441672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261465;SAVANT_GENE=HSD11B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD11B1" target="_blank">HSD11B1</a>;SAVANT_INFO=+/48.7kb/7/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.332-29T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD11B1+c.332-29T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209880259">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000009466" target="_blank">Uncertain_significance</a> 	GT:AD:DP:GQ:PL:TP	0|0:199,2:201:99:0,554,6603:127	0|0:224,0:224:99:0,673,7870:127	0|1:89,88:177:99:2728,0,2589:127
1	209880508	.	GA	G	471.72	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Cortisone_reductase_deficiency_2|_614662_(3);dbSNP139.ID=rs58182526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58182526" target="_blank">rs58182526</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.517+36delA;snpeff.Amino_Acid_length=292;snpeff.Gene_Name=HSD11B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD11B1" target="_blank">HSD11B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261465;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96+16866delT;snpeff.Gene_Name=RP1-28O10.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD11B1" target="_blank">HSD11B1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000441672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000261465;SAVANT_GENE=HSD11B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD11B1" target="_blank">HSD11B1</a>;SAVANT_INFO=+/48.7kb/7/1.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.517+46delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD11B1+c.517+46delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209880508">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:80:0,80,741:76	0|0:34,1:35:79:0,79,929:76	0|1:13,12:25:99:259,0,291:76
1	209933540	.	A	G	2532.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2076150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076150" target="_blank">rs2076150</a>;ExAC.Info.AC=35438;ExAC.Info.AN=126700;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=23367;ExAC.Info.AC_Hom=5979;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln52Gln/c.156A>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367024;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367024;SAVANT_GENE=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;SAVANT_INFO=+/23.8kb/17/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.156A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF3IP3+c.156A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209933540">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,279,3126:127	0|0:116,0:116:99:0,348,3808:127	0|1:44,44:88:99:1285,0,1226:127
1	209933757	.	G	C	1026.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6696463;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6696463" target="_blank">rs6696463</a>;ExAC.Info.AC=24870;ExAC.Info.AN=114788;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=5299;ExAC.Info.AC_Hom=1230;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.345+28G>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367024;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367024;SAVANT_GENE=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;SAVANT_INFO=+/23.8kb/17/2.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.345+28G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF3IP3+c.345+28G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209933757">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1437:123	0|0:60,0:60:99:0,180,2210:123	0|1:23,18:41:99:532,0,663:123
1	209935778	.	A	G	1032.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10489342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10489342" target="_blank">rs10489342</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346-82A>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367024;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367024;SAVANT_GENE=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;SAVANT_INFO=+/23.8kb/17/2.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.346-82A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF3IP3+c.346-82A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209935778">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1327:123	0|0:57,0:57:99:0,171,2039:123	0|1:19,16:35:99:535,0,546:123
1	209936466	.	A	G	2768.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7548219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7548219" target="_blank">rs7548219</a>;ExAC.Info.AC=35270;ExAC.Info.AN=126572;ExAC.Info.AF=0.279;ExAC.Info.AC_Het=23189;ExAC.Info.AC_Hom=5778;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.576+29A>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367024;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367024;SAVANT_GENE=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;SAVANT_INFO=+/23.8kb/17/2.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.576+29A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF3IP3+c.576+29A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209936466">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,385,4256:127	0|0:142,0:142:99:0,427,4894:127	0|1:50,50:100:99:1403,0,1415:127
1	209936914	.	C	T	1880.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17015169;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17015169" target="_blank">rs17015169</a>;ExAC.Info.AC=36284;ExAC.Info.AN=126700;ExAC.Info.AF=0.286;ExAC.Info.AC_Het=24119;ExAC.Info.AC_Hom=6012;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala228Ala/c.684C>T;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367024;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367024;SAVANT_GENE=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;SAVANT_INFO=+/23.8kb/17/2.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.684C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF3IP3+c.684C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209936914">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,330,3798:127	0|0:98,0:98:99:0,295,3494:127	0|1:39,35:74:99:959,0,1054:127
1	209936964	.	T	TCA	1733.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34406510;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34406510" target="_blank">rs34406510</a>;ExAC.Info.AC=36226;ExAC.Info.AN=126548;ExAC.Info.AF=0.286;ExAC.Info.AC_Het=22639;ExAC.Info.AC_Hom=5345;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.702+33_702+34insCA;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367024;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000367024;SAVANT_GENE=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;SAVANT_INFO=+/23.8kb/17/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.702+32_702+33insCA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF3IP3+c.702+32_702+33insCA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209936964">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,211,3116:127	0|0:75,0:75:99:0,226,3348:127	0|1:25,23:48:99:890,0,981:127
1	209950681	.	T	C	4592.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=65;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs649275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=649275" target="_blank">rs649275</a>;ExAC.Info.AC=78796;ExAC.Info.AN=126692;ExAC.Info.AF=0.622;ExAC.Info.AC_Het=29285;ExAC.Info.AC_Hom=24664;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1054-16T>C;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367024;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367024;SAVANT_GENE=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;SAVANT_INFO=+/23.8kb/17/2.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1054-16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF3IP3+c.1054-16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209950681">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:883,72,0:71	1|1:0,28:28:84:932,84,0:71	1|0:10,3:13:83:83,0,266:71
1	209950760	.	C	G	6926.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs669694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=669694" target="_blank">rs669694</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=100063;ExAC.Info.AN=126704;ExAC.Info.AF=0.790;ExAC.Info.AC_Het=20743;ExAC.Info.AC_Hom=39629;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Caa/Gaa;snpeff.Amino_Acid_Change=p.Gln373Glu/c.1117C>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367024;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367024;SAVANT_GENE=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;SAVANT_INFO=+/23.8kb/17/2.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1117C>G_p.Gln373Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF3IP3+c.1117C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209950760">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1395,123,0:110	1|1:0,37:37:99:1296,111,0:110	1|0:16,13:29:99:352,0,487:110
1	209951400	.	C	G	4684.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41303303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41303303" target="_blank">rs41303303</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1190-56C>G;snpeff.Amino_Acid_length=551;snpeff.Gene_Name=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367024;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367024;SAVANT_GENE=TRAF3IP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF3IP3" target="_blank">TRAF3IP3</a>;SAVANT_INFO=+/23.8kb/17/2.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1190-56C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF3IP3+c.1190-56C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209951400">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,352,4060:127	0|1:67,73:140:99:2361,0,2033:127	0|0:129,0:129:99:0,388,4603:127
1	209965587	.	G	C	17492.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=van_der_Woude_syndrome|_119300_(3)|_Popliteal_pterygium_syndrome_1|_119500_(3)|_Orofacial_cleft_6|_608864_(3);dbSNP139.ID=rs2235375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2235375" target="_blank">rs2235375</a>;ExAC.Info.AC=50990;ExAC.Info.AN=126704;ExAC.Info.AF=0.402;ExAC.Info.AC_Het=29468;ExAC.Info.AC_Hom=10752;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.667+27C>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=IRF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF6" target="_blank">IRF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367021;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367021;SAVANT_GENE=IRF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF6" target="_blank">IRF6</a>;SAVANT_INFO=-/20.4kb/9/4.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.667+27C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF6+c.667+27C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209965587">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2878,252,0:127	1|0:72,59:131:99:1827,0,1969:127	1|0:53,67:120:99:1973,0,1451:127
1	209968684	.	C	A	24723.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=461;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=van_der_Woude_syndrome|_119300_(3)|_Popliteal_pterygium_syndrome_1|_119500_(3)|_Orofacial_cleft_6|_608864_(3);dbSNP139.ID=rs2013162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2013162" target="_blank">rs2013162</a>;ExAC.Info.AC=50928;ExAC.Info.AN=126704;ExAC.Info.AF=0.402;ExAC.Info.AC_Het=29436;ExAC.Info.AC_Hom=10742;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcT;snpeff.Amino_Acid_Change=p.Ser153Ser/c.459G>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=IRF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF6" target="_blank">IRF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367021;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367021;SAVANT_GENE=IRF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF6" target="_blank">IRF6</a>;SAVANT_INFO=-/20.4kb/9/4.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.459G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF6+c.459G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209968684">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,156:156:99:4869,468,0:127	1|0:95,86:181:99:2108,0,2589:127	1|0:58,66:124:99:1814,0,1656:127
1	209969902	.	G	C	18641.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=van_der_Woude_syndrome|_119300_(3)|_Popliteal_pterygium_syndrome_1|_119500_(3)|_Orofacial_cleft_6|_608864_(3);dbSNP139.ID=rs7552506;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7552506" target="_blank">rs7552506</a>;ExAC.Info.AC=41129;ExAC.Info.AN=126704;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=27216;ExAC.Info.AC_Hom=6841;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.175-5C>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=IRF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF6" target="_blank">IRF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367021;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:IRF_tryptophan_pentad_repeat];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175G>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=IRF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF6" target="_blank">IRF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367021;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:IRF_tryptophan_pentad_repeat];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175G>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=IRF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF6" target="_blank">IRF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367021;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175C>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=IRF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF6" target="_blank">IRF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367021;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000367021;SAVANT_GENE=IRF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF6" target="_blank">IRF6</a>;SAVANT_INFO=-/20.4kb/9/4.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.175-5C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF6+c.175-5C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:209969902">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3915,319,0:127	1|0:61,64:125:99:1953,0,1823:127	1|0:38,67:105:99:1905,0,1115:127
1	210001543	.	A	T	6898.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12404886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12404886" target="_blank">rs12404886</a>;ExAC.Info.AC=22600;ExAC.Info.AN=126670;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=18132;ExAC.Info.AC_Hom=2113;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.107+28A>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000491415;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000491415;SAVANT_GENE=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;SAVANT_INFO=+/24.2kb/12/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.107+28A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIEXF+c.107+28A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210001543">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1197,110,0:109	1|0:22,28:50:99:850,0,612:109	1|0:23,14:37:99:436,0,696:109
1	210003388	.	A	C	1282.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs599663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=599663" target="_blank">rs599663</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.108-65A>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000491415;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000491415;SAVANT_GENE=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;SAVANT_INFO=+/24.2kb/12/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.108-65A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIEXF+c.108-65A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210003388">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1177:92	0|1:25,22:47:99:660,0,796:92	0|0:38,0:38:99:0,120,2337:92
1	210003402	.	T	C	9093.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs599649;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=599649" target="_blank">rs599649</a>;ExAC.Info.AC=85356;ExAC.Info.AN=126658;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=25820;ExAC.Info.AC_Hom=29265;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.108-51T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000491415;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000491415;SAVANT_GENE=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;SAVANT_INFO=+/24.2kb/12/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.108-51T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIEXF+c.108-51T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210003402">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1588,132,0:127	1|1:0,50:50:99:2007,150,0:127	1|0:31,16:47:99:438,0,1045:127
1	210004199	.	C	G	22550.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs585627;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=585627" target="_blank">rs585627</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=85403;ExAC.Info.AN=126698;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=26047;ExAC.Info.AC_Hom=29642;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Caa/Gaa;snpeff.Amino_Acid_Change=p.Gln67Glu/c.199C>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000491415;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000491415;SAVANT_GENE=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;SAVANT_INFO=+/24.2kb/12/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.199C>G_p.Gln67Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIEXF+c.199C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210004199">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,99:99:99:3424,297,0:127	1|1:0,143:143:99:5035,430,0:127	1|0:92,46:138:99:1203,0,2780:127
1	210006603	.	C	T	24357.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=356;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs656566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=656566" target="_blank">rs656566</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=85500;ExAC.Info.AN=126702;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=26028;ExAC.Info.AC_Hom=29714;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.462C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000491415;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.462C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000491415;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro154Pro/c.462C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000491415;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000491415;SAVANT_GENE=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;SAVANT_INFO=+/24.2kb/12/3.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.462C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIEXF+c.462C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210006603">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,115:116:99:3810,310,0:127	1|1:0,142:142:99:4824,426,0:127	1|0:52,46:98:99:1360,0,1556:127
1	210015568	.	GCT	G	10679.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10570454;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10570454" target="_blank">rs10570454</a>;ExAC.Info.AC=97620;ExAC.Info.AN=126606;ExAC.Info.AF=0.771;ExAC.Info.AC_Het=21589;ExAC.Info.AC_Hom=36668;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1486-41_1486-40delCT;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000491415;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000491415;SAVANT_GENE=DIEXF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIEXF" target="_blank">DIEXF</a>;SAVANT_INFO=+/24.2kb/12/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1486-38_1486-37delTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIEXF+c.1486-38_1486-37delTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210015568">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1558,105,0:104	1|1:0,44:44:99:1956,133,0:104	1|0:22,23:45:99:881,0,840:104
1	210267893	.	TGAA	T	22292.98	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=925;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Spinocerebellar_ataxia|_autosomal_recessive_11|_614229_(3);dbSNP139.ID=rs144713062;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144713062" target="_blank">rs144713062</a>;ExAC.Info.AC=15060;ExAC.Info.AN=126692;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=12891;ExAC.Info.AC_Hom=1052;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gaa/;snpeff.Amino_Acid_Change=p.Glu269del/c.805_807delGAA;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=SYT14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT14" target="_blank">SYT14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422431;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000422431;SAVANT_GENE=SYT14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT14" target="_blank">SYT14</a>;SAVANT_INFO=+/226.1kb/10/5.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.810_812delAGA_p.Glu270del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT14+c.810_812delAGA+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210267893">View</a>	GT:AD:DP:GQ:PL:TP	1|0:164,136:300:99:5026,0,6440:127	0|0:343,2:345:99:0,963,15337:127	1|0:146,134:280:99:5146,0,5702:127
1	210334081	.	T	C	14888.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=792;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Spinocerebellar_ataxia|_autosomal_recessive_11|_614229_(3);dbSNP139.ID=rs17188183;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17188183" target="_blank">rs17188183</a>;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118573;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr518Tyr/c.1554T>C;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=SYT14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT14" target="_blank">SYT14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422431;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422431;SAVANT_GENE=SYT14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT14" target="_blank">SYT14</a>;SAVANT_INFO=+/226.1kb/10/5.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1554T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT14+c.1554T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210334081">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118573" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:137,117:254:99:3309,0,3971:127	0|0:274,0:274:99:0,824,9858:127	1|0:139,125:264:99:3552,0,4053:127
1	210407031	.	G	T	666.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=68;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs624706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=624706" target="_blank">rs624706</a>;ExAC.Info.AC=14452;ExAC.Info.AN=36130;ExAC.Info.AF=0.400;ExAC.Info.AC_Het=3879;ExAC.Info.AC_Hom=2040;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.359C>A;snpeff.Gene_Name=SERTAD4-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4-AS1" target="_blank">SERTAD4-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437764;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-18+675G>T;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=SERTAD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4-AS1" target="_blank">SERTAD4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367012;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000437764:ENST00000367012;SAVANT_GENE=C1orf133:SERTAD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf133:SERTAD4" target="_blank">C1orf133:SERTAD4</a>;SAVANT_INFO=-/2.6kb/2/0.7kb:+/13.5kb/4/5.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.249C>A_p.Ser83Arg:c.-4275G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf133:SERTAD4+c.249C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210407031">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,0:18:54:0,54,595:53	0|0:25,0:25:75:0,75,721:53	0|1:13,12:25:99:352,0,366:53
1	210407329	.	GT	G	571.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=63;MQ=70.06;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs36086035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36086035" target="_blank">rs36086035</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.60delA;snpeff.Gene_Name=SERTAD4-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4-AS1" target="_blank">SERTAD4-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437764;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-18+974delT;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=SERTAD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4-AS1" target="_blank">SERTAD4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367012;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367012:ENST00000437764;SAVANT_GENE=SERTAD4:C1orf133;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4:C1orf133" target="_blank">SERTAD4:C1orf133</a>;SAVANT_INFO=+/13.5kb/4/5.2kb:-/2.6kb/2/0.7kb;SAVANT_LOC=5UTR:5UTR;SAVANT_HGVS=c.-3967delT:c.-51delA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:5PU;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERTAD4:C1orf133+c.-3967delT:c.-51delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210407329">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,0:18:54:0,54,789:53	0|0:28,0:28:84:0,84,1350:53	0|1:8,9:17:99:309,0,293:53
1	210407339	.	TA	T	1478.65	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=50;MQ=70.14;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=0/0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.50delT;snpeff.Gene_Name=SERTAD4-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4-AS1" target="_blank">SERTAD4-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437764;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-18+984delA;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=SERTAD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4-AS1" target="_blank">SERTAD4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367012;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367012:ENST00000437764;SAVANT_GENE=SERTAD4:C1orf133;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4:C1orf133" target="_blank">SERTAD4:C1orf133</a>;SAVANT_INFO=+/13.5kb/4/5.2kb:-/2.6kb/2/0.7kb;SAVANT_LOC=5UTR:5UTR;SAVANT_HGVS=c.-3955delA:c.-61delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:5PU;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERTAD4:C1orf133+c.-3955delA:c.-61delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210407339">View</a>	GT:AD:DP:GQ:PL	0/1:3,10:13:42:197,0,42	0/0:17,2:19:2:0,2,400	./1:0,9:18:99:531,333,328
1	210407339	.	TA	AA	1478.65	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=50;MQ=70.14;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=0/0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.51A>T;snpeff.Gene_Name=SERTAD4-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4-AS1" target="_blank">SERTAD4-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437764;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-18+983T>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=SERTAD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4-AS1" target="_blank">SERTAD4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367012;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000437764:ENST00000367012;SAVANT_GENE=C1orf133:SERTAD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf133:SERTAD4" target="_blank">C1orf133:SERTAD4</a>;SAVANT_INFO=-/2.6kb/2/0.7kb:+/13.5kb/4/5.2kb;SAVANT_LOC=5UTR:5UTR;SAVANT_HGVS=c.-60A>T:c.-3967T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf133:SERTAD4+c.-60A>T:c.-3967T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210407339">View</a>	GT:AD:DP:GQ:PL	./0:3,0:13:42:197,251,760	0/0:17,0:19:2:0,84,1295	./1:0,9:18:99:531,224,334
1	210411266	.	GT	G	1267.55	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11347154;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11347154" target="_blank">rs11347154</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-17-22delT;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=SERTAD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4" target="_blank">SERTAD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000367012;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000367012;SAVANT_GENE=SERTAD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERTAD4" target="_blank">SERTAD4</a>;SAVANT_INFO=+/13.5kb/4/5.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERTAD4+c.-26delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210411266">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,18:33:99:339,0,271:13	0/1:18,19:37:99:318,0,268:13	0/1:19,3:22:13:13,0,406:13
1	210536078	.	C	G	15045.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2294848;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294848" target="_blank">rs2294848</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-118C>G;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391905;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545154;SAVANT_GENE=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;SAVANT_INFO=+/347.4kb/11/3.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.95-118C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHAT+c.95-118C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210536078">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2312,192,0:127	1|0:48,40:88:99:1266,0,1447:127	1|1:0,73:73:99:2797,220,0:127
1	210536278	.	C	A	5870.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11119469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11119469" target="_blank">rs11119469</a>;ExAC.Info.AC=14475;ExAC.Info.AN=126704;ExAC.Info.AF=0.114;ExAC.Info.AC_Het=12477;ExAC.Info.AC_Hom=991;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.159+15C>A;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391905;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545154;SAVANT_GENE=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;SAVANT_INFO=+/347.4kb/11/3.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.162+15C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHAT+c.162+15C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210536278">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,36:64:99:971,0,923:127	0/1:37,33:70:99:1011,0,1213:127	0/1:29,25:54:99:793,0,933:127
1	210577873	.	G	C	5850.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2066721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2066721" target="_blank">rs2066721</a>;ExAC.Info.AC=97616;ExAC.Info.AN=126704;ExAC.Info.AF=0.770;ExAC.Info.AC_Het=21884;ExAC.Info.AC_Hom=37859;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu178Leu/c.534G>C;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391905;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545154;SAVANT_GENE=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;SAVANT_INFO=+/347.4kb/11/3.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.537G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHAT+c.537G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210577873">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:728,60,0:59	1|0:23,16:39:99:444,0,829:59	1|1:0,26:26:78:1070,78,0:59
1	210577901	.	T	C	3489.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34228541;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34228541" target="_blank">rs34228541</a>;ExAC.Info.AC=17221;ExAC.Info.AN=126704;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=14309;ExAC.Info.AC_Hom=1455;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys188Arg/c.562T>C;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391905;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545154;SAVANT_GENE=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;SAVANT_INFO=+/347.4kb/11/3.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.565T>C_p.Cys189Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHAT+c.565T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210577901">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,18:27:99:587,0,210:127	0/1:34,20:54:99:527,0,1016:127	0/1:23,16:39:99:441,0,795:127
1	210686570	.	A	G	4720.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4545340;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4545340" target="_blank">rs4545340</a>;ExAC.Info.AC=92519;ExAC.Info.AN=126480;ExAC.Info.AF=0.731;ExAC.Info.AC_Het=23939;ExAC.Info.AC_Hom=33370;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1043+38A>G;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391905;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545154;SAVANT_GENE=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;SAVANT_INFO=+/347.4kb/11/3.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1046+38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHAT+c.1046+38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210686570">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1803:127	0|1:44,35:79:99:1011,0,1319:127	0|1:38,43:81:99:1369,0,995:127
1	210804430	.	G	A	18343.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=410;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4951682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4951682" target="_blank">rs4951682</a>;ExAC.Info.AC=2961;ExAC.Info.AN=18568;ExAC.Info.AF=0.159;ExAC.Info.AC_Het=2289;ExAC.Info.AC_Hom=231;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val494Ile/c.1480G>A;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391905;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545154;SAVANT_GENE=HHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHAT" target="_blank">HHAT</a>;SAVANT_INFO=+/347.4kb/11/3.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1393+7416G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHAT+c.1393+7416G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210804430">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,55:117:99:1490,0,1635:127	1|1:0,153:153:99:5125,459,0:127	0|1:76,64:140:99:1737,0,2196:127
1	210857261	.	C	T	4942.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72751436;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72751436" target="_blank">rs72751436</a>;ExAC.Info.AC=19;ExAC.Info.AN=126702;ExAC.Info.AF=1.500e-04;ExAC.Info.AC_Het=19;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2332C>T;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2332C>T;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2332C>T;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2332C>T;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala778Thr/c.2332G>A;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271751;SAVANT_GENE=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;SAVANT_INFO=-/450.8kb/11/3.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2332G>A_p.Ala778Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNH1+c.2332G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:210857261">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,40:71:99:1141,0,976:127	0|0:82,0:82:99:0,247,2978:127	1|0:38,33:71:99:937,0,1117:127
1	211280724	.	TA	T	2430.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=197;MQ=70.07;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs111658240;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111658240" target="_blank">rs111658240</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.80-6delT;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80delA;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80delA;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80delA;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80delA;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80delA;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80delA;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80delA;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80delA;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80delA;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80delT;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271751;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000271751;SAVANT_GENE=KCNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH1" target="_blank">KCNH1</a>;SAVANT_INFO=-/450.8kb/11/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.80-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNH1+c.80-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:211280724">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,10:54:52:52,0,943:40	1|0:23,53:76:99:1119,0,287:40	0|0:61,6:67:41:0,41,1317:40
1	211380770	.	T	C	3506.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7525401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7525401" target="_blank">rs7525401</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.382T>C;snpeff.Gene_Name=RP11-543B16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-543B162" target="_blank">RP11-543B162</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000397651;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-543B162" target="_blank">RP11-543B162</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-543B162+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:211380770">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,405,4636:127	0|1:68,60:128:99:1772,0,2084:127	0|0:107,0:107:99:0,322,3935:127
1	211447625	.	G	A	13914.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs11580084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11580084" target="_blank">rs11580084</a>;ExAC.Info.AC=71851;ExAC.Info.AN=126662;ExAC.Info.AF=0.567;ExAC.Info.AC_Het=28630;ExAC.Info.AC_Hom=21101;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.354+21G>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=RCOR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCOR3" target="_blank">RCOR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419091;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ELM2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355G>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=RCOR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCOR3" target="_blank">RCOR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419091;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ELM2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355G>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=RCOR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCOR3" target="_blank">RCOR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419091;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ELM2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355G>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=RCOR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCOR3" target="_blank">RCOR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419091;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ELM2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355G>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=RCOR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCOR3" target="_blank">RCOR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419091;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419091;SAVANT_GENE=RCOR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCOR3" target="_blank">RCOR3</a>;SAVANT_INFO=+/54.6kb/12/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.354+21G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCOR3+c.354+21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:211447625">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:1843,174,0:127	1|0:46,57:103:99:1529,0,1278:127	1|1:0,77:77:99:2635,231,0:127
1	211452678	.	G	A	7997.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3767377;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3767377" target="_blank">rs3767377</a>;ExAC.Info.AC=72091;ExAC.Info.AN=126698;ExAC.Info.AF=0.569;ExAC.Info.AC_Het=28990;ExAC.Info.AC_Hom=21505;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.720+20G>A;snpeff.Amino_Acid_length=553;snpeff.Gene_Name=RCOR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCOR3" target="_blank">RCOR3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419091;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419091;SAVANT_GENE=RCOR3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCOR3" target="_blank">RCOR3</a>;SAVANT_INFO=+/54.6kb/12/2.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.720+20G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCOR3+c.720+20G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:211452678">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1124,99,0:98	1|0:20,23:43:99:651,0,663:98	1|1:0,47:47:99:1442,141,0:98
1	211533990	.	A	G	4508.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs67772854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67772854" target="_blank">rs67772854</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.544-54A>G;snpeff.Amino_Acid_length=557;snpeff.Gene_Name=TRAF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF5" target="_blank">TRAF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261464;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261464;SAVANT_GENE=TRAF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF5" target="_blank">TRAF5</a>;SAVANT_INFO=+/48.1kb/11/4.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.544-54A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF5+c.544-54A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:211533990">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,3275:127	0|1:95,86:181:99:2273,0,2566:127	0|0:154,0:154:99:0,462,5138:127
1	211846876	.	A	G	7145.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Retinitis_pigmentosa_67|_615565_(3);dbSNP139.ID=rs701929;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=701929" target="_blank">rs701929</a>;ExAC.Info.AC=70750;ExAC.Info.AN=126704;ExAC.Info.AF=0.558;ExAC.Info.AC_Het=29633;ExAC.Info.AC_Hom=20538;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.504A>G;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=NEK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK2" target="_blank">NEK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366999;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.504A>G;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=NEK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK2" target="_blank">NEK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366999;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.504A>G;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=NEK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK2" target="_blank">NEK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366999;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.504A>G;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=NEK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK2" target="_blank">NEK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.504A>G;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=NEK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK2" target="_blank">NEK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366999;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.504A>G;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=NEK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK2" target="_blank">NEK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366999;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His168His/c.504T>C;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=NEK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK2" target="_blank">NEK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366999;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366999;SAVANT_GENE=NEK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEK2" target="_blank">NEK2</a>;SAVANT_INFO=-/12.8kb/8/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.504T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEK2+c.504T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:211846876">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,73:135:99:1955,0,1738:127	1|0:74,46:120:99:1262,0,2123:127	0|0:106,0:106:99:0,318,3456:127
1	212241714	.	TA	T	5396.98	PASS	InheritancePattern=Normal;AC=2;AF=0.500;AN=4;DP=202;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./1;NA12892_GT=0/1;NA12891_GT=./0;dbSNP139.ID=rs201294353;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201294353" target="_blank">rs201294353</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.817+46delA;snpeff.Amino_Acid_length=730;snpeff.Gene_Name=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366991;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.818delA;snpeff.Amino_Acid_length=730;snpeff.Gene_Name=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366991;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.818delA;snpeff.Amino_Acid_length=730;snpeff.Gene_Name=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366991;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.818delA;snpeff.Amino_Acid_length=730;snpeff.Gene_Name=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366991;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366991;SAVANT_GENE=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;SAVANT_INFO=+/69.4kb/15/4.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.817+60delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DTL+c.817+60delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212241714">View</a>	GT:AD:DP:GQ:PL	./1:3,43:56:99:1071,240,398	./0:34,3:63:99:595,725,1727	0/1:30,53:83:99:993,0,531
1	212241714	.	TA	TAAA	5396.98	PASS	InheritancePattern=Normal;AC=2;AF=0.500;AN=4;DP=202;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./1;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.817+47_817+48insAA;snpeff.Amino_Acid_length=730;snpeff.Gene_Name=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366991;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.818_819insAA;snpeff.Amino_Acid_length=730;snpeff.Gene_Name=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366991;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.818_819insAA;snpeff.Amino_Acid_length=730;snpeff.Gene_Name=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366991;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.818_819insAA;snpeff.Amino_Acid_length=730;snpeff.Gene_Name=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366991;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366991;SAVANT_GENE=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;SAVANT_INFO=+/69.4kb/15/4.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.817+59_817+60dupAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DTL+c.817+59_817+60dupAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212241714">View</a>	GT:AD:DP:GQ:PL	./1:3,10:56:99:1071,923,1595	0/1:34,26:63:99:595,0,1030	./0:30,0:83:99:993,1236,2969
1	212273606	.	G	A	9915.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=490;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35137676;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35137676" target="_blank">rs35137676</a>;ExAC.Info.AC=3022;ExAC.Info.AN=126552;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=2859;ExAC.Info.AC_Hom=41;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser425Asn/c.1274G>A;snpeff.Amino_Acid_length=730;snpeff.Gene_Name=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366991;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366991;SAVANT_GENE=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;SAVANT_INFO=+/69.4kb/15/4.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1274G>A_p.Ser425Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DTL+c.1274G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212273606">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,72:151:99:1919,0,2436:127	1|0:78,66:144:99:1827,0,2425:127	0|0:195,0:195:99:0,586,6659:127
1	212273639	.	C	T	20052.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3135474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3135474" target="_blank">rs3135474</a>;ExAC.Info.AC=121892;ExAC.Info.AN=126638;ExAC.Info.AF=0.963;ExAC.Info.AC_Het=4390;ExAC.Info.AC_Hom=57802;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gTa;snpeff.Amino_Acid_Change=p.Ala436Val/c.1307C>T;snpeff.Amino_Acid_length=730;snpeff.Gene_Name=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366991;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366991;SAVANT_GENE=DTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTL" target="_blank">DTL</a>;SAVANT_INFO=+/69.4kb/15/4.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1307C>T_p.Ala436Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DTL+c.1307C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212273639">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:4014,378,0:127	1|0:63,55:118:99:1555,0,2003:127	1|0:81,82:163:99:2145,0,2350:127
1	212459615	.	C	G	1764.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75232123;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75232123" target="_blank">rs75232123</a>;ExAC.Info.AC=1247;ExAC.Info.AN=118412;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=456;ExAC.Info.AC_Hom=6;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccg/Gcg;snpeff.Amino_Acid_Change=p.Pro55Ala/c.163C>G;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=PPP2R5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP2R5A" target="_blank">PPP2R5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261461;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261461;SAVANT_GENE=PPP2R5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP2R5A" target="_blank">PPP2R5A</a>;SAVANT_INFO=+/76.3kb/13/3.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.163C>G_p.Pro55Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPP2R5A+c.163C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212459615">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2499:127	0|1:41,32:73:99:901,0,1208:127	0|0:68,0:68:99:0,204,2203:127
1	212521639	.	T	G	12112.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs701908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=701908" target="_blank">rs701908</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.765-92T>G;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=PPP2R5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP2R5A" target="_blank">PPP2R5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261461;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261461;SAVANT_GENE=PPP2R5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP2R5A" target="_blank">PPP2R5A</a>;SAVANT_INFO=+/76.3kb/13/3.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.765-92T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPP2R5A+c.765-92T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212521639">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,57:106:99:1793,0,1318:127	0/1:75,62:137:99:1820,0,2103:127	0/1:48,52:100:99:1599,0,1447:127
1	212526288	.	C	T	10918.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=487;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs792442;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=792442" target="_blank">rs792442</a>;ExAC.Info.AC=90933;ExAC.Info.AN=117004;ExAC.Info.AF=0.777;ExAC.Info.AC_Het=19515;ExAC.Info.AC_Hom=35308;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.131C>T;snpeff.Gene_Name=SNORA16B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORA16B" target="_blank">SNORA16B</a>;snpeff.Transcript_BioType=snoRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000364674;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.928-3680C>T;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=PPP2R5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORA16B" target="_blank">SNORA16B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000261461;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000261461;SAVANT_GENE=PPP2R5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP2R5A" target="_blank">PPP2R5A</a>;SAVANT_INFO=+/76.3kb/13/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.928-3680C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPP2R5A+c.928-3680C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212526288">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,78:141:99:2177,0,1919:127	0|0:182,0:182:99:0,547,6453:127	1|0:81,83:164:99:2383,0,2223:127
1	212560327	.	A	G	36482.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs792449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=792449" target="_blank">rs792449</a>;ExAC.Info.AC=125010;ExAC.Info.AN=126704;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1652;ExAC.Info.AC_Hom=61679;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=TMEM206;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM206" target="_blank">TMEM206</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000535273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe144Phe/c.432T>C;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=TMEM206;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM206" target="_blank">TMEM206</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000535273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000535273;SAVANT_GENE=TMEM206;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM206" target="_blank">TMEM206</a>;SAVANT_INFO=-/50.4kb/9/2.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.432T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM206+c.432T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212560327">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4407,399,0:127	1|1:0,163:163:99:5744,490,0:127	1|1:0,137:137:99:4629,411,0:127
1	212587320	.	T	C	1548.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4951595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4951595" target="_blank">rs4951595</a>;ExAC.Info.AC=837;ExAC.Info.AN=24384;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=585;ExAC.Info.AC_Hom=21;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn47Asp/c.139A>G;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=TMEM206;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM206" target="_blank">TMEM206</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000535273;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000535273;SAVANT_GENE=TMEM206;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM206" target="_blank">TMEM206</a>;SAVANT_INFO=-/50.4kb/9/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.139A>G_p.Asn47Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM206+c.139A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212587320">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1352:125	0|1:17,26:43:99:793,0,458:125	0|0:49,0:49:99:0,147,1551:125
1	212606458	.	A	G	39.12	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=30;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75793592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75793592" target="_blank">rs75793592</a>;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.173A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.173A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.173A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.173A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu58Gly/c.173A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366988;SAVANT_GENE=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;SAVANT_INFO=+/13.5kb/4/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.173A>G_p.Glu58Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NENF+c.173A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212606458">View</a>	GT:AD:DP:GQ:PL:TP	0|1:7,4:11:70:70,0,348:13	1|0:6,1:7:2:0,2,368:13	0|0:11,1:12:17:0,17,787:13
1	212606461	.	A	G	41.12	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=28;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu59Gly/c.176A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366988;SAVANT_GENE=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;SAVANT_INFO=+/13.5kb/4/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.176A>G_p.Glu59Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NENF+c.176A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212606461">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,4:9:72:72,0,341:13	1|0:6,1:7:2:0,2,368:13	0|0:11,1:12:17:0,17,787:13
1	212615875	.	T	C	1976.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs521469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=521469" target="_blank">rs521469</a>;ExAC.Info.AC=53919;ExAC.Info.AN=126698;ExAC.Info.AF=0.426;ExAC.Info.AC_Het=28731;ExAC.Info.AC_Hom=12583;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.178-32T>C;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.178T>C;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.178T>C;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.178T>C;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cytochrome_b5_heme-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.178T>C;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366988;SAVANT_GENE=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;SAVANT_INFO=+/13.5kb/4/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.178-32T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NENF+c.178-32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212615875">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1850:127	0|1:29,34:63:99:1007,0,750:127	0|0:51,0:51:99:0,153,1733:127
1	212619339	.	T	C	1492.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4804" target="_blank">rs4804</a>;ExAC.Info.AC=54121;ExAC.Info.AN=126702;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=28844;ExAC.Info.AC_Hom=12628;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp170Asp/c.510T>C;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366988;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366988;SAVANT_GENE=NENF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NENF" target="_blank">NENF</a>;SAVANT_INFO=+/13.5kb/4/0.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.510T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NENF+c.510T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212619339">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1317:95	0|1:27,27:54:99:765,0,746:95	0|0:32,0:32:96:0,96,1133:95
1	212798977	.	A	G	5169.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3122712;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3122712" target="_blank">rs3122712</a>;ExAC.Info.AC=32326;ExAC.Info.AN=126704;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=23070;ExAC.Info.AC_Hom=4614;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1137T>C;snpeff.Gene_Name=RP11-338C15.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-338C155" target="_blank">RP11-338C155</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427949;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn253Ser/c.758A>G;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=FAM71A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-338C155" target="_blank">RP11-338C155</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294829;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294829;SAVANT_GENE=FAM71A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM71A" target="_blank">FAM71A</a>;SAVANT_INFO=+/2.3kb/1/2.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.758A>G_p.Asn253Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM71A+c.758A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212798977">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,33:83:99:909,0,1473:127	0|0:88,0:88:99:0,264,3026:127	1|0:46,27:73:99:735,0,1225:127
1	212799870	.	A	G	26258.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3122713;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3122713" target="_blank">rs3122713</a>;ExAC.Info.AC=105561;ExAC.Info.AN=126704;ExAC.Info.AF=0.833;ExAC.Info.AC_Het=16973;ExAC.Info.AC_Hom=44284;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.244T>C;snpeff.Gene_Name=RP11-338C15.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-338C155" target="_blank">RP11-338C155</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427949;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn551Asp/c.1651A>G;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=FAM71A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-338C155" target="_blank">RP11-338C155</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294829;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294829;SAVANT_GENE=FAM71A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM71A" target="_blank">FAM71A</a>;SAVANT_INFO=+/2.3kb/1/2.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1651A>G_p.Asn551Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM71A+c.1651A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212799870">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,82:83:99:2780,212,0:127	1|1:0,111:111:99:4011,333,0:127	1|1:0,98:98:99:3611,295,0:127
1	212799949	.	C	T	18877.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795842" target="_blank">rs3795842</a>;ExAC.Info.AC=72963;ExAC.Info.AN=126704;ExAC.Info.AF=0.576;ExAC.Info.AC_Het=28034;ExAC.Info.AC_Hom=22402;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.165G>A;snpeff.Gene_Name=RP11-338C15.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-338C155" target="_blank">RP11-338C155</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427949;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr577Met/c.1730C>T;snpeff.Amino_Acid_length=594;snpeff.Gene_Name=FAM71A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-338C155" target="_blank">RP11-338C155</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000294829;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000294829;SAVANT_GENE=FAM71A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM71A" target="_blank">FAM71A</a>;SAVANT_INFO=+/2.3kb/1/2.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1730C>T_p.Thr577Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM71A+c.1730C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212799949">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,69:119:99:1886,0,1376:127	1|1:0,120:120:99:4036,360,0:127	0|1:70,78:148:99:2260,0,1939:127
1	212870410	.	G	A	2838.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2233924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2233924" target="_blank">rs2233924</a>;ExAC.Info.AC=11212;ExAC.Info.AN=126704;ExAC.Info.AF=0.088;ExAC.Info.AC_Het=9916;ExAC.Info.AC_Hom=645;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.91-3C>T;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=BATF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BATF3" target="_blank">BATF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.91C>T;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=BATF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BATF3" target="_blank">BATF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000243440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000243440;SAVANT_GENE=BATF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BATF3" target="_blank">BATF3</a>;SAVANT_INFO=-/13.6kb/3/1.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.91-3C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BATF3+c.91-3C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212870410">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,319,3951:127	0|0:153,0:153:99:0,460,5483:127	0|1:58,54:112:99:1438,0,1805:127
1	212900487	.	A	G	8184.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2244935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2244935" target="_blank">rs2244935</a>;ExAC.Info.AC=105719;ExAC.Info.AN=116922;ExAC.Info.AF=0.904;ExAC.Info.AC_Het=6486;ExAC.Info.AC_Hom=33604;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212900487">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:992,75,0:77	1|1:0,37:37:99:1422,111,0:77	1|1:0,26:26:78:1001,78,0:77
1	212911836	.	T	C	15064.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs15702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=15702" target="_blank">rs15702</a>;ExAC.Info.AC=81254;ExAC.Info.AN=126704;ExAC.Info.AF=0.641;ExAC.Info.AC_Het=27304;ExAC.Info.AC_Hom=26968;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met254Val/c.760A>G;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=NSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366977;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366977;SAVANT_GENE=NSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;SAVANT_INFO=-/54.8kb/6/2.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.760A>G_p.Met254Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSL1+c.760A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212911836">View</a>	GT:AD:DP:GQ:PL:TP	0/1:74,57:131:99:1547,0,2079:127	0/1:72,65:137:99:1922,0,1993:127	0/1:90,86:176:99:2560,0,2344:127
1	212939477	.	C	CA	951.03	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=34;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.499+16237_499+16236insT;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=NSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366977;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366977;SAVANT_GENE=NSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;SAVANT_INFO=-/54.8kb/6/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.499+16236dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSL1+c.499+16236dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212939477">View</a>	GT:AD:DP:GQ:PL:TP	0/1:4,2:6:23:23,0,254:23	0/1:3,7:10:99:261,0,155:23	0/1:12,6:18:99:100,0,574:23
1	212939491	.	C	A	1065.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=51;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10863991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10863991" target="_blank">rs10863991</a>;ExAC.Info.AC=2887;ExAC.Info.AN=11260;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=251;ExAC.Info.AC_Hom=40;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.499+16223G>T;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=NSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366977;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366977;SAVANT_GENE=NSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;SAVANT_INFO=-/54.8kb/6/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.499+16223G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSL1+c.499+16223G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212939491">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,4:13:74:74,0,373:73	0/1:6,9:15:99:280,0,231:73	0/1:17,6:23:94:94,0,690:73
1	212955454	.	G	A	3168.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=414;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11120026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11120026" target="_blank">rs11120026</a>;ExAC.Info.AC=42438;ExAC.Info.AN=122372;ExAC.Info.AF=0.347;ExAC.Info.AC_Het=25080;ExAC.Info.AC_Hom=7703;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.499+260C>T;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=NSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366977;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366977;SAVANT_GENE=NSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;SAVANT_INFO=-/54.8kb/6/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.499+260C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSL1+c.499+260C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212955454">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4796:127	0|0:167,0:167:99:0,501,5880:127	0|1:53,57:110:99:1603,0,1613:127
1	212960866	.	C	T	7462.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3738800;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738800" target="_blank">rs3738800</a>;ExAC.Info.AC=27362;ExAC.Info.AN=126690;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=18650;ExAC.Info.AC_Hom=4294;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.313+35G>A;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=NSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366977;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366977;SAVANT_GENE=NSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSL1" target="_blank">NSL1</a>;SAVANT_INFO=-/54.8kb/6/2.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.313+35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSL1+c.313+35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212960866">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,25:78:99:703,0,1592:127	0/1:68,52:120:99:1674,0,1994:127	0/1:46,30:76:99:827,0,1282:127
1	212969842	.	C	CT	593.84	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=28;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11421046;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11421046" target="_blank">rs11421046</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.100-16_100-15insT;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=TATDN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TATDN3" target="_blank">TATDN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532324;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000532324;SAVANT_GENE=TATDN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TATDN3" target="_blank">TATDN3</a>;SAVANT_INFO=+/23.8kb/10/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.100-4dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TATDN3+c.100-4dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212969842">View</a>	GT:AD:DP:GQ:PL:TP	0/1:4,1:5:12:12,0,74:12	0/1:8,8:16:97:158,0,97:12	0/1:3,4:7:26:84,0,26:12
1	212985466	.	C	T	1166.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=39;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12130945;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12130945" target="_blank">rs12130945</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.601-103C>T;snpeff.Amino_Acid_length=281;snpeff.Gene_Name=TATDN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TATDN3" target="_blank">TATDN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532324;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000532324;SAVANT_GENE=TATDN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TATDN3" target="_blank">TATDN3</a>;SAVANT_INFO=+/23.8kb/10/1.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.601-103C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TATDN3+c.601-103C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:212985466">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,4:15:99:103,0,303:102	0/1:5,8:13:99:262,0,171:102	0/1:6,5:11:99:157,0,203:102
1	213009469	.	A	G	19006.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=638;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10864004;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10864004" target="_blank">rs10864004</a>;ExAC.Info.AC=85151;ExAC.Info.AN=126586;ExAC.Info.AF=0.673;ExAC.Info.AC_Het=24253;ExAC.Info.AC_Hom=30402;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile8Thr/c.23T>C;snpeff.Amino_Acid_length=98;snpeff.Gene_Name=C1orf227;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf227" target="_blank">C1orf227</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332912;SAVANT_GENE=C1orf227;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf227" target="_blank">C1orf227</a>;SAVANT_INFO=-/17.5kb/3/0.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.23T>C_p.Ile8Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf227+c.23T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213009469">View</a>	GT:AD:DP:GQ:PL:TP	0/1:101,107:208:99:2855,0,2760:127	0/1:116,121:237:99:3498,0,3135:127	0/1:96,97:193:99:2697,0,2728:127
1	213031948	.	G	C	1330.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11120047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11120047" target="_blank">rs11120047</a>;ExAC.Info.AC=31931;ExAC.Info.AN=84852;ExAC.Info.AF=0.376;ExAC.Info.AC_Het=2676;ExAC.Info.AC_Hom=1381;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000117087;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154G>C;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Ccc;snpeff.Amino_Acid_Change=p.Ala52Pro/c.154G>C;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.154G>C_p.Ala52Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.154G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213031948">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000117087" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1434:120	0|0:66,0:66:99:0,198,2193:120	0|1:20,22:42:99:684,0,626:120
1	213032568	.	T	A	6162.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=708;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbSNP139.ID=rs12023052;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12023052" target="_blank">rs12023052</a>;ExAC.Info.AC=60381;ExAC.Info.AN=126678;ExAC.Info.AF=0.477;ExAC.Info.AC_Het=29764;ExAC.Info.AC_Hom=15158;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.738+36T>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.739T>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.739T>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.738+36T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.738+36T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213032568">View</a>	GT:AD:DP:GQ:PL:TP	0|0:199,0:199:99:0,598,6351:127	0|0:269,0:269:99:0,808,9013:127	0|1:124,116:240:99:3100,0,3346:127
1	213046236	.	G	A	8394.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbSNP139.ID=rs1890932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1890932" target="_blank">rs1890932</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1024+76G>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1025G>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1025G>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1024+76G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.1024+76G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213046236">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,42:100:99:1137,0,1857:127	0/1:64,62:126:99:1821,0,2014:127	0/1:65,44:109:99:1250,0,1968:127
1	213056819	.	A	G	70516.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=941;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbSNP139.ID=rs2644547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2644547" target="_blank">rs2644547</a>;ExAC.Info.AC=124599;ExAC.Info.AN=124768;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=115;ExAC.Info.AC_Hom=47073;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1092+39A>G;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1092+39A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.1092+39A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213056819">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,271:271:99:9572,813,0:127	1|1:0,354:354:99:12770,1063,0:127	1|1:0,316:316:99:11219,949,0:127
1	213061362	.	T	A	20509.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=765;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbSNP139.ID=rs2291772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291772" target="_blank">rs2291772</a>;ExAC.Info.AC=32624;ExAC.Info.AN=126690;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=21917;ExAC.Info.AC_Hom=5310;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1307+19T>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1308T>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1308T>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1307+19T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.1307+19T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213061362">View</a>	GT:AD:DP:GQ:PL:TP	0/1:121,122:243:99:3074,0,3091:127	0/1:146,145:291:99:3919,0,3948:127	0/1:117,114:231:99:3161,0,3371:127
1	213062640	.	G	A	5748.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=583;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbSNP139.ID=rs41300983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41300983" target="_blank">rs41300983</a>;ExAC.Info.AC=838;ExAC.Info.AN=126702;ExAC.Info.AF=6.614e-03;ExAC.Info.AC_Het=825;ExAC.Info.AC_Hom=4;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1525+41G>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1526G>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1526G>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1525+41G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.1525+41G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213062640">View</a>	GT:AD:DP:GQ:PL:TP	0|0:171,0:171:99:0,514,6414:127	0|1:114,100:214:99:2893,0,3696:127	0|0:198,0:198:99:0,595,7479:127
1	213068233	.	C	T	17841.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbSNP139.ID=rs12408694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12408694" target="_blank">rs12408694</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1526-95C>T;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1526C>T;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1526C>T;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1526-95C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.1526-95C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213068233">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,61:122:99:1660,0,2036:127	0|1:78,92:170:99:2633,0,2485:127	1|1:0,119:119:99:4242,357,0:127
1	213068404	.	T	C	22292.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=733;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbSNP139.ID=rs17019870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17019870" target="_blank">rs17019870</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=32639;ExAC.Info.AN=126652;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=21922;ExAC.Info.AC_Hom=5334;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1593+9T>C;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594T>C;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594T>C;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1593+9T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.1593+9T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213068404">View</a>	GT:AD:DP:GQ:PL:TP	0/1:116,94:210:99:2995,0,3125:127	0/1:147,138:285:99:4178,0,4198:127	0/1:143,95:238:99:2985,0,4193:127
1	213068436	.	A	G	19784.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=616;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbSNP139.ID=rs17019873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17019873" target="_blank">rs17019873</a>;ExAC.Info.AC=32620;ExAC.Info.AN=126578;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=21860;ExAC.Info.AC_Hom=5310;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1593+41A>G;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594A>G;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594A>G;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1593+41A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.1593+41A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213068436">View</a>	GT:AD:DP:GQ:PL:TP	0/1:94,76:170:99:2733,0,2546:127	0/1:126,114:240:99:3545,0,3758:127	0/1:129,77:206:99:2737,0,3975:127
1	213068456	.	T	A	9257.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=554;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbSNP139.ID=rs41258314;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41258314" target="_blank">rs41258314</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1593+61T>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594T>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594T>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1593+61T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.1593+61T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213068456">View</a>	GT:AD:DP:GQ:PL:TP	1|0:84,74:158:99:2211,0,3735:127	0|0:214,1:215:99:0,609,8973:127	1|0:108,73:181:99:2161,0,5018:127
1	213068542	.	C	CTGAT	21964.29	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=788;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbSNP139.ID=rs146462077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146462077" target="_blank">rs146462077</a>;ExAC.Info.AC=32507;ExAC.Info.AN=126694;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=22019;ExAC.Info.AC_Hom=5142;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1594-15_1594-14insTGAT;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594_1595insTGAT;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594_1595insTGAT;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1594-13_1594-10dupATTG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.1594-13_1594-10dupATTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213068542">View</a>	GT:AD:DP:GQ:PL:TP	0/1:148,107:255:99:2867,0,5898:127	0/1:135,138:273:99:4109,0,5346:127	0/1:138,122:260:99:3552,0,5369:127
1	213068595	.	C	T	9639.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ataxia|_posterior_column|_with_retinitis_pigmentosa|_609033_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3207090;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3207090" target="_blank">rs3207090</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=57121;ExAC.Info.AN=126702;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=29527;ExAC.Info.AC_Hom=13757;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000117088;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1631C>T;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1631C>T;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr544Met/c.1631C>T;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366971;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366971;SAVANT_GENE=FLVCR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FLVCR1" target="_blank">FLVCR1</a>;SAVANT_INFO=+/41.1kb/10/5.9kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1631C>T_p.Thr544Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FLVCR1+c.1631C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213068595">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000117088" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:375,0:375:99:0,1126,12488:127	0|0:398,0:398:99:0,1194,13936:127	0|1:186,166:352:99:4882,0,5424:127
1	213139748	.	T	G	12754.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3738805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738805" target="_blank">rs3738805</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.497+61T>G;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=VASH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VASH2" target="_blank">VASH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000517399;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366965;SAVANT_GENE=VASH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VASH2" target="_blank">VASH2</a>;SAVANT_INFO=+/40.3kb/6/3.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.365+5152T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VASH2+c.365+5152T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213139748">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1873,159,0:127	1|1:0,52:52:99:1974,156,0:127	1|1:0,49:49:99:1863,147,0:127
1	213140398	.	A	C	8052.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=83;MQ=69.87;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10779598;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10779598" target="_blank">rs10779598</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.497+711A>C;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=VASH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VASH2" target="_blank">VASH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000517399;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366965;SAVANT_GENE=VASH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VASH2" target="_blank">VASH2</a>;SAVANT_INFO=+/40.3kb/6/3.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.366-5524A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VASH2+c.366-5524A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213140398">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:982,75,0:65	1|1:0,36:36:99:1262,108,0:65	1|1:0,22:22:66:790,66,0:65
1	213180441	.	G	GA	1721.89	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs71147054;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71147054" target="_blank">rs71147054</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.712+30_712+29insT;snpeff.Amino_Acid_length=544;snpeff.Gene_Name=ANGEL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANGEL2" target="_blank">ANGEL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366962;SAVANT_GENE=ANGEL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANGEL2" target="_blank">ANGEL2</a>;SAVANT_INFO=-/23.6kb/9/4.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.712+29dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANGEL2+c.712+29dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213180441">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,25:43:99:328,0,174:127	0/1:13,28:41:99:409,0,130:127	0/1:13,14:27:99:181,0,161:127
1	213349747	.	C	T	1142.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56369827;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56369827" target="_blank">rs56369827</a>;ExAC.Info.AC=1390;ExAC.Info.AN=126704;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1348;ExAC.Info.AC_Hom=21;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cTa;snpeff.Amino_Acid_Change=p.Pro319Leu/c.956C>T;snpeff.Amino_Acid_length=1066;snpeff.Gene_Name=RPS6KC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KC1" target="_blank">RPS6KC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366960;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366960;SAVANT_GENE=RPS6KC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS6KC1" target="_blank">RPS6KC1</a>;SAVANT_INFO=+/223.5kb/15/5.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.956C>T_p.Pro319Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS6KC1+c.956C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:213349747">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,1:30:50:0,50,1074:49	0|1:31,20:51:99:590,0,992:49	0|0:22,0:22:66:0,66,861:49
1	214478459	.	G	A	16633.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6540819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6540819" target="_blank">rs6540819</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.174-71G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYND-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYND-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYND-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.174G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366957;SAVANT_GENE=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;SAVANT_INFO=+/55.9kb/12/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.174-71G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMYD2+c.174-71G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214478459">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,65:115:99:1813,0,1459:127	1|1:0,159:159:99:5152,478,0:127	0|0:174,0:174:99:0,523,6006:127
1	214492286	.	G	A	23996.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=346;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1134647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1134647" target="_blank">rs1134647</a>;ExAC.Info.AC=108637;ExAC.Info.AN=126704;ExAC.Info.AF=0.857;ExAC.Info.AC_Het=14098;ExAC.Info.AC_Hom=47253;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.494G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.494G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.494G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.494G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.494G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.494G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.494G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.494G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gAa;snpeff.Amino_Acid_Change=p.Gly165Glu/c.494G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366957;SAVANT_GENE=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;SAVANT_INFO=+/55.9kb/12/1.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.494G>A_p.Gly165Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMYD2+c.494G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214492286">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2633,240,0:127	1|1:0,146:146:99:4976,439,0:127	1|0:61,59:120:99:1655,0,1728:127
1	214503489	.	T	G	33124.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=484;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2291830;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291830" target="_blank">rs2291830</a>;ExAC.Info.AC=69149;ExAC.Info.AN=126624;ExAC.Info.AF=0.546;ExAC.Info.AC_Het=29170;ExAC.Info.AC_Hom=18336;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.706-22T>G;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>G;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366957;SAVANT_GENE=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;SAVANT_INFO=+/55.9kb/12/1.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.706-22T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMYD2+c.706-22T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214503489">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,158:158:99:5171,475,0:127	1|1:0,187:187:99:6142,562,0:127	1|0:59,80:139:99:2229,0,1558:127
1	214504604	.	T	C	7664.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2270704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270704" target="_blank">rs2270704</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.937+191T>C;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366957;SAVANT_GENE=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;SAVANT_INFO=+/55.9kb/12/1.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.937+191T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMYD2+c.937+191T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214504604">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:1097,84,0:83	1|1:0,39:39:99:1543,117,0:83	1|0:20,15:35:99:494,0,533:83
1	214505596	.	C	T	1038.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1874804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1874804" target="_blank">rs1874804</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1112+61C>T;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1113C>T;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1113C>T;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366957;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366957;SAVANT_GENE=SMYD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD2" target="_blank">SMYD2</a>;SAVANT_INFO=+/55.9kb/12/1.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1112+61C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMYD2+c.1112+61C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214505596">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,879:74	0|1:24,18:42:99:538,0,727:74	0|0:26,0:26:78:0,78,840:74
1	214531078	.	GA	G	4334.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=357;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Choanal_atresia_and_lymphedema|_613611_(3);dbSNP139.ID=rs3830398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3830398" target="_blank">rs3830398</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=186;snpeff.Amino_Acid_Change=c.*186delT;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366956;SAVANT_GENE=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;SAVANT_INFO=-/193.7kb/19/4.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*186delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN14+c.*186delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214531078">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,367,3771:127	0|1:78,51:129:99:1151,0,2021:127	0|1:61,45:106:99:1041,0,1561:127
1	214542819	.	T	C	13594.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=597;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Choanal_atresia_and_lymphedema|_613611_(3);dbSNP139.ID=rs1135352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1135352" target="_blank">rs1135352</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=97432;ExAC.Info.AN=126704;ExAC.Info.AF=0.769;ExAC.Info.AC_Het=21544;ExAC.Info.AC_Hom=37934;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3252T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3252T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3252T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3252T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3252T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu1084Glu/c.3252A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366956;SAVANT_GENE=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;SAVANT_INFO=-/193.7kb/19/4.2kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.3252A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN14+c.3252A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214542819">View</a>	GT:AD:DP:GQ:PL:TP	0|0:148,0:148:99:0,444,5193:127	0|1:120,137:257:99:3952,0,3465:127	0|1:95,97:192:99:2865,0,2681:127
1	214551276	.	G	A	8622.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=545;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Choanal_atresia_and_lymphedema|_613611_(3);dbSNP139.ID=rs3013451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3013451" target="_blank">rs3013451</a>;ExAC.Info.AC=98258;ExAC.Info.AN=126666;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=20630;ExAC.Info.AC_Hom=38213;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2688+26C>T;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2689G>A;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2689G>A;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366956;SAVANT_GENE=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;SAVANT_INFO=-/193.7kb/19/4.2kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2688+26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN14+c.2688+26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214551276">View</a>	GT:AD:DP:GQ:PL:TP	0|0:165,0:165:99:0,496,5750:127	0|1:131,85:216:99:2234,0,3873:127	0|1:86,78:164:99:2097,0,2483:127
1	214551420	.	C	T	3202.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Choanal_atresia_and_lymphedema|_613611_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72757962;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72757962" target="_blank">rs72757962</a>;ExAC.Info.AC=1465;ExAC.Info.AN=126700;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1429;ExAC.Info.AC_Hom=16;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gAc;snpeff.Amino_Acid_Change=p.Gly857Asp/c.2570G>A;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366956;SAVANT_GENE=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;SAVANT_INFO=-/193.7kb/19/4.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2570G>A_p.Gly857Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN14+c.2570G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214551420">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,3235:127	0|1:61,61:122:99:1620,0,1821:127	0|0:57,0:57:99:0,171,1970:127
1	214560293	.	G	T	3210.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=350;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Choanal_atresia_and_lymphedema|_613611_(3);dbSNP139.ID=rs2270703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270703" target="_blank">rs2270703</a>;ExAC.Info.AC=7704;ExAC.Info.AN=126556;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=5857;ExAC.Info.AC_Hom=426;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.988-28C>A;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366956;SAVANT_GENE=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;SAVANT_INFO=-/193.7kb/19/4.2kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.988-28C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN14+c.988-28C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214560293">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,253,3178:127	0|0:147,0:147:99:0,442,5582:127	0|1:67,52:119:99:1624,0,2223:127
1	214564340	.	T	C	8875.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Choanal_atresia_and_lymphedema|_613611_(3);dbSNP139.ID=rs7550799;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7550799" target="_blank">rs7550799</a>;ExAC.Info.AC=97700;ExAC.Info.AN=126700;ExAC.Info.AF=0.771;ExAC.Info.AC_Het=21229;ExAC.Info.AC_Hom=38091;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgG;snpeff.Amino_Acid_Change=p.Arg326Arg/c.978A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366956;SAVANT_GENE=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;SAVANT_INFO=-/193.7kb/19/4.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.978A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN14+c.978A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214564340">View</a>	GT:AD:DP:GQ:PL:TP	0|0:139,1:140:99:0,382,4423:127	0|1:86,89:175:99:2648,0,2454:127	0|1:55,57:112:99:1810,0,1522:127
1	214566952	.	A	G	9436.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Choanal_atresia_and_lymphedema|_613611_(3);dbSNP139.ID=rs4655342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4655342" target="_blank">rs4655342</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.929+86T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366956;SAVANT_GENE=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;SAVANT_INFO=-/193.7kb/19/4.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.929+86T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN14+c.929+86T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214566952">View</a>	GT:AD:DP:GQ:PL:TP	0|0:151,0:151:99:0,454,4726:127	0|1:70,68:138:99:2126,0,2087:127	0|1:68,81:149:99:2612,0,2028:127
1	214567013	.	CG	C	11420.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=728;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Choanal_atresia_and_lymphedema|_613611_(3);dbSNP139.ID=rs11322819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11322819" target="_blank">rs11322819</a>;ExAC.Info.AC=97983;ExAC.Info.AN=126670;ExAC.Info.AF=0.774;ExAC.Info.AC_Het=20989;ExAC.Info.AC_Hom=38305;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.929+24delC;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366956;SAVANT_GENE=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;SAVANT_INFO=-/193.7kb/19/4.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.929+24delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN14+c.929+24delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214567013">View</a>	GT:AD:DP:GQ:PL:TP	0|0:246,0:246:99:0,739,7623:127	0|1:133,123:256:99:3065,0,3365:127	0|1:117,109:226:99:2670,0,2960:127
1	214576354	.	T	C	9820.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Choanal_atresia_and_lymphedema|_613611_(3);dbSNP139.ID=rs55788513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55788513" target="_blank">rs55788513</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.511-58A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366956;SAVANT_GENE=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;SAVANT_INFO=-/193.7kb/19/4.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.511-58A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN14+c.511-58A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214576354">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,53:118:99:1603,0,1863:127	0|0:179,0:179:99:0,538,6257:127	1|0:85,54:139:99:1515,0,2516:127
1	214637882	.	A	G	69054.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=916;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Choanal_atresia_and_lymphedema|_613611_(3);dbSNP139.ID=rs7528315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7528315" target="_blank">rs7528315</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.174+91T>C;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366956;SAVANT_GENE=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;SAVANT_INFO=-/193.7kb/19/4.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.174+91T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN14+c.174+91T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214637882">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,304:304:99:10680,916,0:127	1|1:0,341:341:99:12122,1024,0:127	1|1:0,271:271:99:9780,815,0:127
1	214638319	.	T	C	10577.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Choanal_atresia_and_lymphedema|_613611_(3);dbSNP139.ID=rs10864101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10864101" target="_blank">rs10864101</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-154-19A>G;snpeff.Amino_Acid_length=1187;snpeff.Gene_Name=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366956;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366956;SAVANT_GENE=PTPN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN14" target="_blank">PTPN14</a>;SAVANT_INFO=-/193.7kb/19/4.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-173A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN14+c.-173A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214638319">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1536,132,0:101	1|1:0,69:69:99:2223,207,0:101	1|1:0,34:34:99:1174,102,0:101
1	214787130	.	G	A	10000.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2070064;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070064" target="_blank">rs2070064</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=50154;ExAC.Info.AN=126704;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=27091;ExAC.Info.AC_Hom=11508;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly11Gly/c.33G>A;snpeff.Amino_Acid_length=3114;snpeff.Gene_Name=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366955;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366955;SAVANT_GENE=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;SAVANT_INFO=+/61.4kb/20/10.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.33G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CENPF+c.33G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214787130">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,39:74:99:1024,0,1050:127	1|1:0,78:78:99:2691,234,0:127	0|1:37,28:65:99:784,0,1067:127
1	214814571	.	C	T	9033.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3795521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795521" target="_blank">rs3795521</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=50033;ExAC.Info.AN=126470;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=26807;ExAC.Info.AC_Hom=11395;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cta/Tta;snpeff.Amino_Acid_Change=p.Leu964Leu/c.2890C>T;snpeff.Amino_Acid_length=3114;snpeff.Gene_Name=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366955;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366955;SAVANT_GENE=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;SAVANT_INFO=+/61.4kb/20/10.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2890C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CENPF+c.2890C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214814571">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,36:61:99:1081,0,774:127	1|1:0,63:63:99:2234,189,0:127	0|1:25,35:60:99:966,0,760:127
1	214820099	.	A	G	12901.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748697;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748697" target="_blank">rs3748697</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=49501;ExAC.Info.AN=126660;ExAC.Info.AF=0.391;ExAC.Info.AC_Het=26925;ExAC.Info.AC_Hom=11143;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn2396Asp/c.7186A>G;snpeff.Amino_Acid_length=3114;snpeff.Gene_Name=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366955;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366955;SAVANT_GENE=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;SAVANT_INFO=+/61.4kb/20/10.3kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.7186A>G_p.Asn2396Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CENPF+c.7186A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214820099">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,38:70:99:1233,0,938:127	1|1:0,87:87:99:3317,260,0:127	0|1:35,43:78:99:1375,0,1052:127
1	214825289	.	CT	C	265.8	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=223;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs71679696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71679696" target="_blank">rs71679696</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8160+61delT;snpeff.Amino_Acid_length=3114;snpeff.Gene_Name=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366955;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366955;SAVANT_GENE=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;SAVANT_INFO=+/61.4kb/20/10.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.8160+72delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CENPF+c.8160+72delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214825289">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,15:71:99:102,0,1265:6	0/1:85,12:97:5:5,0,1948:6	0/1:47,8:55:38:38,0,1025:6
1	214826196	.	G	A	2895.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs335524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=335524" target="_blank">rs335524</a>;ExAC.Info.AC=65117;ExAC.Info.AN=126678;ExAC.Info.AF=0.514;ExAC.Info.AC_Het=28594;ExAC.Info.AC_Hom=18115;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg2729Gln/c.8186G>A;snpeff.Amino_Acid_length=3114;snpeff.Gene_Name=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366955;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366955;SAVANT_GENE=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;SAVANT_INFO=+/61.4kb/20/10.3kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.8186G>A_p.Arg2729Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CENPF+c.8186G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214826196">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,23:48:99:606,0,635:127	0|0:50,0:50:99:0,150,1559:127	1|0:19,24:43:99:676,0,467:127
1	214826364	.	G	A	3882.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs335523;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=335523" target="_blank">rs335523</a>;ExAC.Info.AC=64168;ExAC.Info.AN=126644;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=29475;ExAC.Info.AC_Hom=17209;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8322+32G>A;snpeff.Amino_Acid_length=3114;snpeff.Gene_Name=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366955;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366955;SAVANT_GENE=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;SAVANT_INFO=+/61.4kb/20/10.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.8322+32G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CENPF+c.8322+32G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214826364">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,18:38:99:505,0,519:127	0/1:15,24:39:99:688,0,388:127	0/1:16,23:39:99:650,0,409:127
1	214826810	.	CT	C	13738.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11303309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11303309" target="_blank">rs11303309</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8322+479delT;snpeff.Amino_Acid_length=3114;snpeff.Gene_Name=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366955;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366955;SAVANT_GENE=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;SAVANT_INFO=+/61.4kb/20/10.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.8322+493delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CENPF+c.8322+493delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214826810">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,64:65:99:1486,167,0:127	1|1:3,104:107:99:2376,241,0:127	1|1:0,78:78:99:1832,230,0:127
1	214828812	.	A	G	7131.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs435043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=435043" target="_blank">rs435043</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8485+66A>G;snpeff.Amino_Acid_length=3114;snpeff.Gene_Name=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366955;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366955;SAVANT_GENE=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;SAVANT_INFO=+/61.4kb/20/10.3kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.8485+66A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CENPF+c.8485+66A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214828812">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,29:60:99:926,0,845:127	0/1:38,37:75:99:1245,0,1020:127	0/1:35,27:62:99:920,0,1144:127
1	214830592	.	A	G	10342.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=484;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72759668;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72759668" target="_blank">rs72759668</a>;ExAC.Info.AC=24;ExAC.Info.AN=126704;ExAC.Info.AF=1.894e-04;ExAC.Info.AC_Het=24;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg2934Arg/c.8802A>G;snpeff.Amino_Acid_length=3114;snpeff.Gene_Name=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366955;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366955;SAVANT_GENE=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;SAVANT_INFO=+/61.4kb/20/10.3kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.8802A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CENPF+c.8802A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214830592">View</a>	GT:AD:DP:GQ:PL:TP	0|1:87,55:142:99:1570,0,2383:127	1|0:112,80:192:99:2412,0,3268:127	0|0:150,0:150:99:0,451,5234:127
1	214830617	.	A	G	18230.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=499;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs438034;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=438034" target="_blank">rs438034</a>;ExAC.Info.AC=75700;ExAC.Info.AN=126700;ExAC.Info.AF=0.597;ExAC.Info.AC_Het=28652;ExAC.Info.AC_Hom=23477;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg2943Gly/c.8827A>G;snpeff.Amino_Acid_length=3114;snpeff.Gene_Name=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366955;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366955;SAVANT_GENE=CENPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CENPF" target="_blank">CENPF</a>;SAVANT_INFO=+/61.4kb/20/10.3kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.8827A>G_p.Arg2943Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CENPF+c.8827A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:214830617">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,87:150:99:2550,0,1719:127	0/1:86,114:200:99:3385,0,2488:127	0/1:73,76:149:99:2258,0,2035:127
1	215753355	.	T	G	9121.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=406;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11803705;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11803705" target="_blank">rs11803705</a>;ExAC.Info.AC=37931;ExAC.Info.AN=126702;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=24599;ExAC.Info.AC_Hom=6650;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.626+13T>G;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=KCTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCTD3" target="_blank">KCTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000259154;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000259154;SAVANT_GENE=KCTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCTD3" target="_blank">KCTD3</a>;SAVANT_INFO=+/54.3kb/18/3.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.626+13T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCTD3+c.626+13T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215753355">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,57:128:99:1835,0,1898:127	1|0:84,68:152:99:2060,0,2350:127	0|0:125,1:126:99:0,337,4399:127
1	215793834	.	G	A	11680.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs14137;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=14137" target="_blank">rs14137</a>;ExAC.Info.AC=70492;ExAC.Info.AN=126702;ExAC.Info.AF=0.556;ExAC.Info.AC_Het=28015;ExAC.Info.AC_Hom=21221;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala774Ala/c.2322G>A;snpeff.Amino_Acid_length=815;snpeff.Gene_Name=KCTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCTD3" target="_blank">KCTD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000259154;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000259154;SAVANT_GENE=KCTD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCTD3" target="_blank">KCTD3</a>;SAVANT_INFO=+/54.3kb/18/3.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2322G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCTD3+c.2322G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215793834">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,37:76:99:984,0,1131:127	0|1:43,37:80:99:1162,0,1267:127	1|1:0,88:88:99:3099,264,0:127
1	215824195	.	GA	G	625.29	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs371744542;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371744542" target="_blank">rs371744542</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14134-53delT;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_32];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.14134delA;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_32];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.14134delA;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=65;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=In64/65;SAVANT_HGVS=c.14134-53delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.14134-53delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215824195">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,2:20:9:0,9,320:9	0|1:38,12:50:79:79,0,704:9	0|1:21,13:34:99:195,0,352:9
1	215844373	.	C	T	11857.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=518;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs45549044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45549044" target="_blank">rs45549044</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DM;hgmd_2014.2.PHEN=Usher_syndrome_2A;hgmd_2014.2.OMIM_ID=608400;hgmd_2014.2.PubMed=19129697;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19129697" target="_blank">19129697</a>;ExAC.Info.AC=611;ExAC.Info.AN=126704;ExAC.Info.AF=4.822e-03;ExAC.Info.AC_Het=607;ExAC.Info.AC_Hom=2;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000041750;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_32];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.14074C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_32];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.14074C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=65;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly4692Arg/c.14074G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex64;SAVANT_HGVS=c.14074G>A_p.Gly4692Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.14074G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215844373">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000041750" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:80,78:158:99:2189,0,2128:127	1|0:91,97:188:99:2735,0,2476:127	0|0:172,0:172:99:0,517,5701:127
1	215848587	.	T	C	30633.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=987;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs2797234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2797234" target="_blank">rs2797234</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=46214;ExAC.Info.AN=126704;ExAC.Info.AF=0.365;ExAC.Info.AC_Het=28478;ExAC.Info.AC_Hom=8834;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126268|RCV000041726;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_27];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12666T>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr4222Thr/c.12666A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex63;SAVANT_HGVS=c.12666A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.12666A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215848587">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126268%20OR%20RCV000041726" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:168,178:346:99:5375,0,4686:127	0/1:174,177:351:99:5139,0,5306:127	0/1:145,145:290:99:4339,0,4458:127
1	215848641	.	T	C	68143.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=947;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs2797235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2797235" target="_blank">rs2797235</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=96877;ExAC.Info.AN=126694;ExAC.Info.AF=0.765;ExAC.Info.AC_Het=21978;ExAC.Info.AC_Hom=37195;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_27];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12612T>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr4204Thr/c.12612A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex63;SAVANT_HGVS=c.12612A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.12612A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215848641">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,323:323:99:10866,970,0:127	1|1:0,336:336:99:11263,1008,0:127	1|1:0,288:288:99:9605,864,0:127
1	215853748	.	GT	G	10362.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs5780842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5780842" target="_blank">rs5780842</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12067-31delA;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_25];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12067delT;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_25];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12067delT;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=In61/62;SAVANT_HGVS=c.12067-31delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.12067-31delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215853748">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,56:57:99:1491,145,0:127	1|1:1,61:62:99:1596,159,0:127	1|1:0,62:62:99:1684,186,0:127
1	215901492	.	C	T	2692.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs2820718;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2820718" target="_blank">rs2820718</a>;ExAC.Info.AC=19806;ExAC.Info.AN=126704;ExAC.Info.AF=0.156;ExAC.Info.AC_Het=16289;ExAC.Info.AC_Hom=1758;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126265|RCV000041709;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_25];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11946C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_25];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11946C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu3982Leu/c.11946G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex61;SAVANT_HGVS=c.11946G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.11946G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215901492">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126265%20OR%20RCV000041709" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,355,4464:127	0|0:150,0:150:99:0,451,5783:127	0|1:60,48:108:99:1365,0,1926:127
1	215914646	.	T	A	4356.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs6694510;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6694510" target="_blank">rs6694510</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11711+71A>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_24];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11712T>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_24];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11712T>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=In60/61;SAVANT_HGVS=c.11711+71A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.11711+71A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215914646">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,40:90:99:1166,0,1526:127	1|0:50,34:84:99:945,0,1649:127	0|0:85,0:85:99:0,256,3114:127
1	215914826	.	T	C	10265.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=649;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35309576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35309576" target="_blank">rs35309576</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=24939;ExAC.Info.AN=126704;ExAC.Info.AF=0.197;ExAC.Info.AC_Het=19508;ExAC.Info.AC_Hom=2707;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126261|RCV000041699;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_24];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11602T>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_24];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11602T>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met3868Val/c.11602A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex60;SAVANT_HGVS=c.11602A>G_p.Met3868Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.11602A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215914826">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126261%20OR%20RCV000041699" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:120,76:196:99:2171,0,3456:127	1|0:143,92:235:99:2509,0,4217:127	0|0:218,0:218:99:0,655,7489:127
1	215916563	.	G	A	23967.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1359;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11120616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11120616" target="_blank">rs11120616</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=24422;ExAC.Info.AN=126704;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=19154;ExAC.Info.AC_Hom=2629;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126260|RCV000041698;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_23];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11504G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_23];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11504G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_23];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11504G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aTt;snpeff.Amino_Acid_Change=p.Thr3835Ile/c.11504C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex59;SAVANT_HGVS=c.11504C>T_p.Thr3835Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.11504C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215916563">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126260%20OR%20RCV000041698" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:230,196:426:99:4967,0,6450:127	1|0:293,229:522:99:6077,0,8352:127	0|0:410,1:411:99:0,1230,14074:127
1	215956304	.	A	G	18530.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=646;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs7518466;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7518466" target="_blank">rs7518466</a>;ExAC.Info.AC=68154;ExAC.Info.AN=126074;ExAC.Info.AF=0.541;ExAC.Info.AC_Het=26840;ExAC.Info.AC_Hom=16692;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10388-27T>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_19];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10388A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_19];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10388A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=In52/53;SAVANT_HGVS=c.10388-27T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.10388-27T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215956304">View</a>	GT:AD:DP:GQ:PL:TP	0/1:111,91:202:99:2559,0,3238:127	0/1:107,114:221:99:3416,0,3031:127	0/1:127,96:223:99:2812,0,3554:127
1	215960167	.	T	G	19866.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=653;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10864198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10864198" target="_blank">rs10864198</a>;ExAC.Info.AC=69258;ExAC.Info.AN=126634;ExAC.Info.AF=0.547;ExAC.Info.AC_Het=30619;ExAC.Info.AC_Hom=19173;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126257|RCV000041665;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10232T>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10232T>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_19];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10232T>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_19];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10232T>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gCa;snpeff.Amino_Acid_Change=p.Glu3411Ala/c.10232A>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex52;SAVANT_HGVS=c.10232A>C_p.Glu3411Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.10232A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:215960167">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126257%20OR%20RCV000041665" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:107,118:225:99:3365,0,2778:127	0/1:123,132:255:99:4003,0,3464:127	0/1:93,80:173:99:2418,0,2502:127
1	216144049	.	C	T	7788.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=871;MQ=70.01;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41277210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41277210" target="_blank">rs41277210</a>;ExAC.Info.AC=2870;ExAC.Info.AN=126692;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2753;ExAC.Info.AC_Hom=57;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000087013|RCV000041897;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6875C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6875C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6875C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg2292His/c.6875G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.6875G>A_p.Arg2292His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.6875G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216144049">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000087013%20OR%20RCV000041897" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:291,0:291:99:0,874,9455:127	0|0:318,0:318:99:0,955,10747:127	0|1:126,136:262:99:3913,0,3477:127
1	216172380	.	A	G	18287.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=593;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10864219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10864219" target="_blank">rs10864219</a>;ExAC.Info.AC=70520;ExAC.Info.AN=126672;ExAC.Info.AF=0.557;ExAC.Info.AC_Het=29704;ExAC.Info.AC_Hom=20338;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126249|RCV000041888;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6506A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6506A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6506A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile2169Thr/c.6506T>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.6506T>C_p.Ile2169Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.6506T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216172380">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126249%20OR%20RCV000041888" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:111,71:182:99:2041,0,3062:127	0|0:227,0:227:99:0,682,7696:127	1|1:0,184:184:99:6435,553,0:127
1	216219781	.	A	G	29245.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=926;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6657250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6657250" target="_blank">rs6657250</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=76925;ExAC.Info.AN=126700;ExAC.Info.AF=0.607;ExAC.Info.AC_Het=28178;ExAC.Info.AC_Hom=24341;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6317A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6317A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6317A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile2106Thr/c.6317T>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.6317T>C_p.Ile2106Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.6317T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216219781">View</a>	GT:AD:DP:GQ:PL:TP	0/1:129,142:271:99:4031,0,3219:127	0/1:166,174:340:99:5155,0,4581:127	0/1:157,158:315:99:4679,0,4290:127
1	216246675	.	AG	A	47641.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=650;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs35944387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35944387" target="_blank">rs35944387</a>;ExAC.Info.AC=91589;ExAC.Info.AN=126422;ExAC.Info.AF=0.724;ExAC.Info.AC_Het=22667;ExAC.Info.AC_Hom=31503;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5573-34delC;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.136+734delG;snpeff.Gene_Name=RP11-22M7.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446411;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5573delG;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5573delG;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5573delG;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5573delG;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.5573-34delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.5573-34delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216246675">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,191:191:99:6658,573,0:127	1|1:0,243:243:99:8489,730,0:127	1|1:0,216:216:99:7614,649,0:127
1	216258194	.	G	T	5378.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=564;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs56110889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56110889" target="_blank">rs56110889</a>;ExAC.Info.AC=17056;ExAC.Info.AN=126686;ExAC.Info.AF=0.135;ExAC.Info.AC_Het=14296;ExAC.Info.AC_Hom=1370;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.266-1870G>T;snpeff.Gene_Name=RP11-22M7.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-22M72" target="_blank">RP11-22M72</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000446411;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5013G>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-22M72" target="_blank">RP11-22M72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5013G>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-22M72" target="_blank">RP11-22M72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5013G>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-22M72" target="_blank">RP11-22M72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5013G>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-22M72" target="_blank">RP11-22M72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_G-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5013G>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-22M72" target="_blank">RP11-22M72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly1671Gly/c.5013C>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-22M72" target="_blank">RP11-22M72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.5013C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.5013C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216258194">View</a>	GT:AD:DP:GQ:PL:TP	0|0:196,0:196:99:0,588,6916:127	0|1:82,102:184:99:2708,0,2297:127	0|0:184,0:184:99:0,552,6591:127
1	216348764	.	C	T	39635.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=611;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1805049;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805049" target="_blank">rs1805049</a>;ExAC.Info.AC=83274;ExAC.Info.AN=126640;ExAC.Info.AF=0.658;ExAC.Info.AC_Het=27685;ExAC.Info.AC_Hom=27653;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg1486Lys/c.4457G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.4457G>A_p.Arg1486Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.4457G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216348764">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,191:191:99:6839,574,0:127	1|0:104,118:222:99:3533,0,3141:127	1|1:0,198:198:99:6948,595,0:127
1	216370108	.	C	T	5644.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=527;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs447102;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=447102" target="_blank">rs447102</a>;ExAC.Info.AC=24545;ExAC.Info.AN=125952;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=16548;ExAC.Info.AC_Hom=2240;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4082-44G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.362+841C>T;snpeff.Gene_Name=RP5-1099E6.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4082C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4082C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4082C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.4082-44G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.4082-44G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216370108">View</a>	GT:AD:DP:GQ:PL:TP	0|0:167,0:167:99:0,502,5969:127	0|1:117,88:205:99:2818,0,3523:127	0|0:155,0:155:99:0,466,5631:127
1	216371934	.	A	C	3970.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs646094;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=646094" target="_blank">rs646094</a>;ExAC.Info.AC=26843;ExAC.Info.AN=126634;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20799;ExAC.Info.AC_Hom=2829;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126241|RCV000041834;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3812-8T>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.362+2667A>C;snpeff.Gene_Name=RP5-1099E6.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3812A>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3812A>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3812A>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3812T>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3812-8T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.3812-8T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216371934">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126241%20OR%20RCV000041834" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,252,2836:127	0|1:54,61:115:99:2004,0,1630:127	0|0:92,0:92:99:0,277,3280:127
1	216495191	.	T	G	3032.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs7515253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7515253" target="_blank">rs7515253</a>;ExAC.Info.AC=32016;ExAC.Info.AN=126668;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=23520;ExAC.Info.AC_Hom=4228;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1644+34A>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645T>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645T>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645T>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645T>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1644+34A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.1644+34A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216495191">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,244,2771:127	0|1:50,48:98:99:1535,0,1443:127	0|0:82,0:82:99:0,247,2905:127
1	216495400	.	A	G	5200.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs2089947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2089947" target="_blank">rs2089947</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1551-82T>C;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1551A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1551-82T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.1551-82T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216495400">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,361,4023:127	0|1:66,83:149:99:2619,0,1743:127	0|0:113,0:113:99:0,340,3987:127
1	216496947	.	G	A	9925.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1059;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs1805050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805050" target="_blank">rs1805050</a>;ExAC.Info.AC=31775;ExAC.Info.AN=126700;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=23400;ExAC.Info.AC_Hom=4175;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126237|RCV000041754;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1419G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1419G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1419G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1419G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Laminin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1419G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr473Thr/c.1419C>T;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1419C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.1419C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216496947">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126237%20OR%20RCV000041754" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:351,0:351:99:0,1055,12631:127	0|1:183,171:354:99:4959,0,5717:127	0|0:354,0:354:99:0,1064,12552:127
1	216592003	.	T	C	33696.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=580;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbSNP139.ID=rs4253963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4253963" target="_blank">rs4253963</a>;ExAC.Info.AC=82238;ExAC.Info.AN=126684;ExAC.Info.AF=0.649;ExAC.Info.AC_Het=27913;ExAC.Info.AC_Hom=27106;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126251|RCV000041854;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr168Thr/c.504A>G;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.504A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.504A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216592003">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126251%20OR%20RCV000041854" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,182:182:99:6175,547,0:127	1|0:132,103:235:99:2830,0,3862:127	1|1:0,163:163:99:5600,490,0:127
1	216595306	.	C	T	45753.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=849;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_2A|_276901_(3)|_Retinitis_pigmentosa_39|_613809_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10779261;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10779261" target="_blank">rs10779261</a>;ExAC.Info.AC=92425;ExAC.Info.AN=126698;ExAC.Info.AF=0.729;ExAC.Info.AC_Het=24687;ExAC.Info.AC_Hom=33815;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126239|RCV000041833;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala125Thr/c.373G>A;snpeff.Amino_Acid_length=5226;snpeff.Gene_Name=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366943;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307340;SAVANT_GENE=USH2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH2A" target="_blank">USH2A</a>;SAVANT_INFO=-/800.5kb/72/18.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.373G>A_p.Ala125Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH2A+c.373G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216595306">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126239%20OR%20RCV000041833" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,264:264:99:8500,793,0:127	1|0:177,149:326:99:3873,0,5632:127	1|1:0,259:259:99:8754,778,0:127
1	216692669	.	C	T	8932.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs945453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=945453" target="_blank">rs945453</a>;ExAC.Info.AC=63511;ExAC.Info.AN=126690;ExAC.Info.AF=0.501;ExAC.Info.AC_Het=29750;ExAC.Info.AC_Hom=16810;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.993C>T;snpeff.Amino_Acid_length=470;snpeff.Gene_Name=ESRRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESRRG" target="_blank">ESRRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366937;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser331Ser/c.993G>A;snpeff.Amino_Acid_length=470;snpeff.Gene_Name=ESRRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESRRG" target="_blank">ESRRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366937;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000408911;SAVANT_GENE=ESRRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESRRG" target="_blank">ESRRG</a>;SAVANT_INFO=-/220.2kb/7/5.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.957G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESRRG+c.957G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216692669">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,39:76:99:1088,0,994:127	1|1:0,90:90:99:3049,270,0:127	0|0:64,0:64:99:0,192,2300:127
1	216741314	.	C	T	4332.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11572766;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11572766" target="_blank">rs11572766</a>;ExAC.Info.AC=20075;ExAC.Info.AN=126702;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=16090;ExAC.Info.AC_Hom=1972;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.715+16G>A;snpeff.Amino_Acid_length=470;snpeff.Gene_Name=ESRRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESRRG" target="_blank">ESRRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366937;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000408911;SAVANT_GENE=ESRRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESRRG" target="_blank">ESRRG</a>;SAVANT_INFO=-/220.2kb/7/5.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.700+16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESRRG+c.700+16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216741314">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,24:45:99:668,0,701:127	1|0:25,33:58:99:958,0,762:127	0|0:44,0:44:99:0,132,1507:127
1	216880662	.	G	A	4632.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=497;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11572672;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11572672" target="_blank">rs11572672</a>;ExAC.Info.AC=2310;ExAC.Info.AN=17504;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=1785;ExAC.Info.AC_Hom=179;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.71+39C>T;snpeff.Amino_Acid_length=470;snpeff.Gene_Name=ESRRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESRRG" target="_blank">ESRRG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366937;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000408911;SAVANT_GENE=ESRRG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESRRG" target="_blank">ESRRG</a>;SAVANT_INFO=-/220.2kb/7/5.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.56+15924C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ESRRG+c.56+15924C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:216880662">View</a>	GT:AD:DP:GQ:PL:TP	0|0:179,0:179:99:0,538,6486:127	0|1:94,84:178:99:2335,0,2963:127	0|0:140,0:140:99:0,421,5311:127
1	217671771	.	C	G	15954.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs724803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=724803" target="_blank">rs724803</a>;ExAC.Info.AC=36106;ExAC.Info.AN=126698;ExAC.Info.AF=0.285;ExAC.Info.AC_Het=24943;ExAC.Info.AC_Hom=5559;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1167-34G>C;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=GPATCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPATCH2" target="_blank">GPATCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366935;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366935;SAVANT_GENE=GPATCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPATCH2" target="_blank">GPATCH2</a>;SAVANT_INFO=-/204.1kb/10/5.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1167-34G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPATCH2+c.1167-34G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:217671771">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2960,249,0:127	1|0:66,55:121:99:1629,0,1988:127	1|0:44,43:87:99:1277,0,1421:127
1	217784431	.	A	AC	7592.28	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=309;MQ=70.02;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs145143662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145143662" target="_blank">rs145143662</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.836-18_836-19insG;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=GPATCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPATCH2" target="_blank">GPATCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366935;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366935;SAVANT_GENE=GPATCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPATCH2" target="_blank">GPATCH2</a>;SAVANT_INFO=-/204.1kb/10/5.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.836-19dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPATCH2+c.836-19dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:217784431">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,31:101:99:576,0,1666:29	1|1:11,104:115:29:2585,29,0:29	0|0:93,0:93:99:0,279,2642:29
1	217804325	.	G	A	4614.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=457;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs944730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=944730" target="_blank">rs944730</a>;ExAC.Info.AC=65979;ExAC.Info.AN=124884;ExAC.Info.AF=0.528;ExAC.Info.AC_Het=19542;ExAC.Info.AC_Hom=13969;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.-12C>T;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=GPATCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPATCH2" target="_blank">GPATCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366935;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=GPATCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPATCH2" target="_blank">GPATCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366935;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366935;SAVANT_GENE=GPATCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPATCH2" target="_blank">GPATCH2</a>;SAVANT_INFO=-/204.1kb/10/5.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPATCH2+c.-12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:217804325">View</a>	GT:AD:DP:GQ:PL:TP	0|0:145,0:145:99:0,436,4816:127	0|1:88,79:167:99:2326,0,2478:127	0|0:145,0:145:99:0,435,4807:127
1	217947738	.	G	A	36775.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=490;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6604561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6604561" target="_blank">rs6604561</a>;ExAC.Info.AC=98278;ExAC.Info.AN=126704;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=21177;ExAC.Info.AC_Hom=38545;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln194Gln/c.582G>A;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=SPATA17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA17" target="_blank">SPATA17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366933;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366933;SAVANT_GENE=SPATA17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPATA17" target="_blank">SPATA17</a>;SAVANT_INFO=+/240.4kb/11/5.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.582G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPATA17+c.582G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:217947738">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,141:141:99:4612,424,0:127	1|1:0,189:189:99:6340,567,0:127	1|1:0,160:160:99:5477,481,0:127
1	218610662	.	CT	C	1319.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Loeys-Dietz_syndrome|_type_4|_614816_(3);ExperienceDB.ASSAY=NGS-03_CT-FH-HHT-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=homopolymer|_rs11285412|_Alamut_calls_c|1017-6delT|_no_significant_splicing_prediction;ExperienceDB.Submitter=Kotzer;dbSNP139.ID=rs11285412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11285412" target="_blank">rs11285412</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1017-22delT;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=TGFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFB2" target="_blank">TGFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366929;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1017delT;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=TGFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFB2" target="_blank">TGFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366929;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1017delT;snpeff.Amino_Acid_length=442;snpeff.Gene_Name=TGFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFB2" target="_blank">TGFB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366929;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366929;SAVANT_GENE=TGFB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFB2" target="_blank">TGFB2</a>;SAVANT_INFO=+/98.4kb/8/5.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1017-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TGFB2+c.1017-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:218610662">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,19:33:99:208,0,202:90	0/1:19,15:34:99:207,0,288:90	0/1:7,15:22:90:213,0,90:90
1	218683417	.	C	CT	881.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=82;MQ=70.08;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11422961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11422961" target="_blank">rs11422961</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11422961" target="_blank">rs11422961</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:218683417">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,8:16:99:136,0,139:94	0|0:39,1:40:95:0,95,957:94	1|0:11,15:26:99:255,0,207:94
1	218683528	.	A	G	1374.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=51;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7532546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7532546" target="_blank">rs7532546</a>;ExAC.Info.AC=2939;ExAC.Info.AN=19930;ExAC.Info.AF=0.147;ExAC.Info.AC_Het=1617;ExAC.Info.AC_Hom=183;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.91A>G;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=C1orf143;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf143" target="_blank">C1orf143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000443836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met31Val/c.91A>G;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=C1orf143;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf143" target="_blank">C1orf143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000443836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000443836;SAVANT_GENE=C1orf143;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf143" target="_blank">C1orf143</a>;SAVANT_INFO=+/15.9kb/3/0.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.91A>G_p.Met31Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf143+c.91A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:218683528">View</a>	GT:AD:DP:GQ:PL:TP	1|0:6,12:18:99:466,0,304:51	0|0:17,0:17:51:0,51,1125:51	1|0:9,7:16:99:267,0,517:51
1	218696903	.	C	T	7656.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41313742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41313742" target="_blank">rs41313742</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190+111C>T;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=C1orf143;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf143" target="_blank">C1orf143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000443836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000443836;SAVANT_GENE=C1orf143;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf143" target="_blank">C1orf143</a>;SAVANT_INFO=+/15.9kb/3/0.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.190+111C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf143+c.190+111C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:218696903">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,64:135:99:1705,0,1940:127	0|0:143,0:143:99:0,430,4714:127	1|0:60,56:116:99:1478,0,1622:127
1	218698728	.	G	A	6843.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72738863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72738863" target="_blank">rs72738863</a>;ExAC.Info.AC=3206;ExAC.Info.AN=21296;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=2421;ExAC.Info.AC_Hom=309;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.191-21G>A;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=C1orf143;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf143" target="_blank">C1orf143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000443836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000443836;SAVANT_GENE=C1orf143;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf143" target="_blank">C1orf143</a>;SAVANT_INFO=+/15.9kb/3/0.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.191-21G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf143+c.191-21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:218698728">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,44:115:99:1111,0,2272:127	0|0:133,0:133:99:0,400,5053:127	1|0:65,51:116:99:1372,0,2046:127
1	219366400	.	T	TG	4429.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=79;MQ=70.48;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs35359058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35359058" target="_blank">rs35359058</a>;ExAC.Info.AC=93811;ExAC.Info.AN=125148;ExAC.Info.AF=0.750;ExAC.Info.AC_Het=20052;ExAC.Info.AC_Hom=24038;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.192-23_192-22insG;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192_193insG;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192_193insG;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366928;SAVANT_GENE=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;SAVANT_INFO=+/39.0kb/5/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.192-15dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYPLAL1+c.192-15dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:219366400">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:71:660,71,0:32	1|1:2,28:30:32:666,32,0:32	1|1:0,25:25:74:694,74,0:32
1	219383848	.	A	ACTTTTT	10644.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5781096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5781096" target="_blank">rs5781096</a>;ExAC.Info.AC=124841;ExAC.Info.AN=126288;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1168;ExAC.Info.AC_Hom=60600;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.362-25_362-24insCTTTTT;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362_363insCTTTTT;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362_363insCTTTTT;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366928;SAVANT_GENE=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;SAVANT_INFO=+/39.0kb/5/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.362-21_362-20insTCTTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYPLAL1+c.362-21_362-20insTCTTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:219383848">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:99:1470,102,0:115	1|1:0,33:33:99:1694,117,0:115	1|1:0,35:35:99:1778,120,0:115
1	219383867	.	T	C	13109.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs940571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=940571" target="_blank">rs940571</a>;ExAC.Info.AC=125152;ExAC.Info.AN=126598;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1244;ExAC.Info.AC_Hom=61650;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.362-7T>C;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362T>C;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362T>C;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362T>C;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366928;SAVANT_GENE=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;SAVANT_INFO=+/39.0kb/5/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.362-7T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYPLAL1+c.362-7T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:219383867">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1791,129,0:127	1|1:0,51:51:99:2106,153,0:127	1|1:0,51:51:99:2178,153,0:127
1	219383905	.	A	G	14475.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs940570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=940570" target="_blank">rs940570</a>;ExAC.Info.AC=125379;ExAC.Info.AN=126692;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=1162;ExAC.Info.AC_Hom=62049;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.393A>G;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atA/atG;snpeff.Amino_Acid_Change=p.Ile131Met/c.393A>G;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366928;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366928;SAVANT_GENE=LYPLAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYPLAL1" target="_blank">LYPLAL1</a>;SAVANT_INFO=+/39.0kb/5/1.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.393A>G_p.Ile131Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYPLAL1+c.393A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:219383905">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2200,189,0:127	1|1:0,69:69:99:2280,207,0:127	1|1:0,61:61:99:2200,183,0:127
1	219706428	.	T	C	39207.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=846;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10746385;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10746385" target="_blank">rs10746385</a>;ExAC.Info.AC=65516;ExAC.Info.AN=117474;ExAC.Info.AF=0.558;ExAC.Info.AC_Het=27037;ExAC.Info.AC_Hom=18866;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10746385" target="_blank">rs10746385</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:219706428">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,240:241:99:8239,688,0:127	1|0:170,148:318:99:4063,0,4783:127	1|0:154,133:287:99:3768,0,4126:127
1	219783279	.	T	A	16122.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=396;MQ=53.72;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs79789352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79789352" target="_blank">rs79789352</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2817A>T;snpeff.Gene_Name=ZC3H11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11B" target="_blank">ZC3H11B</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431766;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11B" target="_blank">ZC3H11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZC3H11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:219783279">View</a>	GT:AD:DP:GQ:PL:TP	0/1:54,74:128:99:2019,0,1309:127	0/1:62,100:162:99:2869,0,1633:127	0/1:46,60:106:99:1749,0,1288:127
1	219783709	.	G	A	1440.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=41;MQ=29.91;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs368783050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=368783050" target="_blank">rs368783050</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2387C>T;snpeff.Gene_Name=ZC3H11B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11B" target="_blank">ZC3H11B</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000431766;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZC3H11B" target="_blank">ZC3H11B</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZC3H11B+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:219783709">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,6:11:99:176,0,141:127	0/1:6,10:16:99:300,0,160:127	0/1:9,5:14:99:132,0,268:127
1	220089352	.	A	C	9788.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3)|Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3);dbSNP139.ID=rs2231734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2231734" target="_blank">rs2231734</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.959-62T>G;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=SLC30A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A10" target="_blank">SLC30A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366926;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.959A>C;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=SLC30A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A10" target="_blank">SLC30A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366926;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.959A>C;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=SLC30A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A10" target="_blank">SLC30A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366926;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366926;SAVANT_GENE=SLC30A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A10" target="_blank">SLC30A10</a>;SAVANT_INFO=-/13.4kb/4/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.959-62T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC30A10+c.959-62T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220089352">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,41:109:99:1137,0,2054:127	0|0:133,0:133:99:0,400,4947:127	1|1:0,94:94:99:3179,283,0:127
1	220101127	.	T	C	2318.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3)|Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3);dbSNP139.ID=rs185021781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=185021781" target="_blank">rs185021781</a>;ExAC.Info.AC=336;ExAC.Info.AN=117706;ExAC.Info.AF=2.855e-03;ExAC.Info.AC_Het=124;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.640+16A>G;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=SLC30A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A10" target="_blank">SLC30A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366926;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641T>C;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=SLC30A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A10" target="_blank">SLC30A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366926;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641T>C;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=SLC30A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A10" target="_blank">SLC30A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366926;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.641T>C;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=SLC30A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A10" target="_blank">SLC30A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366926;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366926;SAVANT_GENE=SLC30A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A10" target="_blank">SLC30A10</a>;SAVANT_INFO=-/13.4kb/4/1.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.640+16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC30A10+c.640+16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220101127">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,213,2312:127	0|0:99,0:99:99:0,298,3496:127	0|1:34,42:76:99:1178,0,992:127
1	220145584	.	C	T	5967.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3)|Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3);dbSNP139.ID=rs1982986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1982986" target="_blank">rs1982986</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4245-95G>A;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4245C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366923;SAVANT_GENE=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;SAVANT_INFO=-/78.1kb/32/5.0kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.4245-95G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPRS+c.4245-95G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220145584">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1112,96,0:86	1|0:28,16:44:99:450,0,906:86	1|1:0,29:29:87:994,87,0:86
1	220154768	.	C	T	7440.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=811;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3)|Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3);dbSNP139.ID=rs1061160;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061160" target="_blank">rs1061160</a>;ExAC.Info.AC=43751;ExAC.Info.AN=126702;ExAC.Info.AF=0.345;ExAC.Info.AC_Het=28378;ExAC.Info.AC_Hom=7670;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3405C>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln1135Gln/c.3405G>A;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366923;SAVANT_GENE=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;SAVANT_INFO=-/78.1kb/32/5.0kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.3405G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPRS+c.3405G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220154768">View</a>	GT:AD:DP:GQ:PL:TP	0|0:245,0:245:99:0,735,8072:127	0|1:154,143:297:99:3739,0,4561:127	0|0:269,0:269:99:0,808,9287:127
1	220156090	.	T	C	30264.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3)|Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3);dbSNP139.ID=rs2647462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2647462" target="_blank">rs2647462</a>;ExAC.Info.AC=104714;ExAC.Info.AN=126696;ExAC.Info.AF=0.826;ExAC.Info.AC_Het=17970;ExAC.Info.AC_Hom=43340;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3373+24A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3374T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366923;SAVANT_GENE=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;SAVANT_INFO=-/78.1kb/32/5.0kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3373+24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPRS+c.3373+24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220156090">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3525,300,0:127	1|1:0,152:152:99:5166,457,0:127	1|1:0,112:112:99:4223,337,0:127
1	220160433	.	A	G	23375.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3)|Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3);dbSNP139.ID=rs2647434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2647434" target="_blank">rs2647434</a>;ExAC.Info.AC=106283;ExAC.Info.AN=126484;ExAC.Info.AF=0.840;ExAC.Info.AC_Het=15694;ExAC.Info.AC_Hom=43879;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3038+51T>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Proline--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366923;SAVANT_GENE=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;SAVANT_INFO=-/78.1kb/32/5.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.3038+51T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPRS+c.3038+51T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220160433">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2861,226,0:127	1|1:0,99:99:99:3738,298,0:127	1|1:0,83:83:99:3228,250,0:127
1	220161859	.	C	G	4343.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3)|Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3);dbSNP139.ID=rs2291838;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291838" target="_blank">rs2291838</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2775+73G>C;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_57_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776C>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_57_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776C>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_57_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776C>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WHEP-TRS_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776C>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WHEP-TRS_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776C>G;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366923;SAVANT_GENE=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;SAVANT_INFO=-/78.1kb/32/5.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2775+73G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPRS+c.2775+73G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220161859">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,25:55:99:773,0,872:127	1|0:43,35:78:99:1060,0,1368:127	0|0:63,0:63:99:0,189,2263:127
1	220178717	.	T	TA	9346.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3)|Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3);dbSNP139.ID=rs5781162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5781162" target="_blank">rs5781162</a>;ExAC.Info.AC=106848;ExAC.Info.AN=126658;ExAC.Info.AF=0.844;ExAC.Info.AC_Het=16097;ExAC.Info.AC_Hom=45147;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1951-15_1951-16insT;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1951_1952insA;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366923;SAVANT_GENE=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;SAVANT_INFO=-/78.1kb/32/5.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1951-16dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPRS+c.1951-16dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220178717">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1266,114,0:107	1|1:0,47:47:99:1579,141,0:107	1|1:0,36:36:99:1210,108,0:107
1	220197625	.	G	T	32311.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3)|Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230301" target="_blank">rs2230301</a>;ExAC.Info.AC=106834;ExAC.Info.AN=126656;ExAC.Info.AF=0.843;ExAC.Info.AC_Het=16051;ExAC.Info.AC_Hom=45151;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate--tRNA_ligase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.924G>T;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaA;snpeff.Amino_Acid_Change=p.Asp308Glu/c.924C>A;snpeff.Amino_Acid_length=1512;snpeff.Gene_Name=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366923;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366923;SAVANT_GENE=EPRS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPRS" target="_blank">EPRS</a>;SAVANT_INFO=-/78.1kb/32/5.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.924C>A_p.Asp308Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPRS+c.924C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220197625">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4288,388,0:127	1|1:0,151:151:99:5084,454,0:127	1|1:0,149:149:99:4896,448,0:127
1	220231180	.	CT	C	3203.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3)|Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3);dbSNP139.ID=rs34887640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34887640" target="_blank">rs34887640</a>;ExAC.Info.AC=5504;ExAC.Info.AN=20680;ExAC.Info.AF=0.266;ExAC.Info.AC_Het=3607;ExAC.Info.AC_Hom=829;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1005;snpeff.Amino_Acid_Change=c.*1005delA;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=BPNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BPNT1" target="_blank">BPNT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469520;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000469520;SAVANT_GENE=BPNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BPNT1" target="_blank">BPNT1</a>;SAVANT_INFO=-/33.0kb/10/2.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1005delA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BPNT1+c.*1005delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220231180">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,19:46:99:605,0,952:127	0|0:51,0:51:99:0,153,2053:127	1|0:34,23:57:99:743,0,1186:127
1	220239448	.	T	C	24575.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3)|Hypermanganesemia_with_dystonia|_polycythemia|_and_cirrhosis|_613280_(3);dbSNP139.ID=rs1146773;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1146773" target="_blank">rs1146773</a>;ExAC.Info.AC=11993;ExAC.Info.AN=15824;ExAC.Info.AF=0.758;ExAC.Info.AC_Het=2347;ExAC.Info.AC_Hom=3996;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.474+1196A>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=BPNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BPNT1" target="_blank">BPNT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000469520;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000469520;SAVANT_GENE=BPNT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BPNT1" target="_blank">BPNT1</a>;SAVANT_INFO=-/33.0kb/10/2.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.474+1196A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BPNT1+c.474+1196A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220239448">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3512,271,0:127	1|1:0,126:126:99:4678,379,0:127	1|1:0,77:77:99:2910,232,0:127
1	220321023	.	A	G	6210.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11095;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11095" target="_blank">rs11095</a>;ExAC.Info.AC=23122;ExAC.Info.AN=126672;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=18143;ExAC.Info.AC_Hom=2392;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=46;snpeff.Amino_Acid_Change=c.*46A>G;snpeff.Amino_Acid_length=1012;snpeff.Gene_Name=IARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IARS2" target="_blank">IARS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302637;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302637;SAVANT_GENE=IARS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IARS2" target="_blank">IARS2</a>;SAVANT_INFO=+/53.9kb/23/3.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*46A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IARS2+c.*46A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220321023">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,301,3644:127	0|1:66,58:124:99:1783,0,2085:127	0|1:62,44:106:99:1342,0,1879:127
1	220331319	.	T	G	3294.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3)|Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3)|Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3)|Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3);dbSNP139.ID=rs3767654;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3767654" target="_blank">rs3767654</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3262-101A>C;snpeff.Amino_Acid_length=1393;snpeff.Gene_Name=RAB3GAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3GAP2" target="_blank">RAB3GAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358951;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358951;SAVANT_GENE=RAB3GAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3GAP2" target="_blank">RAB3GAP2</a>;SAVANT_INFO=-/124.2kb/35/7.3kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.3262-101A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAB3GAP2+c.3262-101A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220331319">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,213,2453:127	0|1:33,31:64:99:917,0,1045:127	0|1:29,25:54:99:750,0,885:127
1	220332876	.	G	A	9190.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=460;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3)|Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3)|Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3)|Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3);dbSNP139.ID=rs2808026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2808026" target="_blank">rs2808026</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3226-113C>T;snpeff.Amino_Acid_length=1393;snpeff.Gene_Name=RAB3GAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3GAP2" target="_blank">RAB3GAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358951;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358951;SAVANT_GENE=RAB3GAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3GAP2" target="_blank">RAB3GAP2</a>;SAVANT_INFO=-/124.2kb/35/7.3kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.3226-113C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAB3GAP2+c.3226-113C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220332876">View</a>	GT:AD:DP:GQ:PL:TP	0|0:154,0:154:99:0,462,5562:127	0|1:79,90:169:99:2547,0,2362:127	0|1:65,72:137:99:2068,0,1951:127
1	220369745	.	TA	T	6302.98	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=447;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3)|Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3)|Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3)|Martsolf_syndrome|_212720_(3)|_Warburg_micro_syndrome_2|_614225_(3);dbSNP139.ID=rs35396665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35396665" target="_blank">rs35396665</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.812-6delT;snpeff.Amino_Acid_length=1393;snpeff.Gene_Name=RAB3GAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3GAP2" target="_blank">RAB3GAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358951;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812delT;snpeff.Amino_Acid_length=1393;snpeff.Gene_Name=RAB3GAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3GAP2" target="_blank">RAB3GAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358951;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000358951;SAVANT_GENE=RAB3GAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB3GAP2" target="_blank">RAB3GAP2</a>;SAVANT_INFO=-/124.2kb/35/7.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.812-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAB3GAP2+c.812-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220369745">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,7:142:99:0,248,3351:127	0|1:84,82:166:99:1705,0,1766:127	0|1:69,70:139:99:1471,0,1392:127
1	220607685	.	G	A	19629.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1361256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1361256" target="_blank">rs1361256</a>;ExAC.Info.AC=11412;ExAC.Info.AN=13286;ExAC.Info.AF=0.859;ExAC.Info.AC_Het=1231;ExAC.Info.AC_Hom=4434;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe22Phe/c.66C>T;snpeff.Amino_Acid_length=50;snpeff.Gene_Name=AC096644.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0966441" target="_blank">AC0966441</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000416839;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.66C>T;snpeff.Amino_Acid_length=50;snpeff.Gene_Name=AC096644.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0966441" target="_blank">AC0966441</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000416839;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000416839;SAVANT_GENE=AC096644.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0966441" target="_blank">AC0966441</a>;SAVANT_INFO=-/4.7kb/3/0.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.66C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AC0966441+c.66C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220607685">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2862,261,0:127	1|1:0,70:70:99:2475,210,0:127	1|1:0,86:86:99:2985,258,0:127
1	220789236	.	C	T	14635.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2786599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2786599" target="_blank">rs2786599</a>;ExAC.Info.AC=124029;ExAC.Info.AN=126600;ExAC.Info.AF=0.980;ExAC.Info.AC_Het=1937;ExAC.Info.AC_Hom=60655;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.496-45C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366917;SAVANT_GENE=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;SAVANT_INFO=+/133.9kb/18/2.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.496-45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MARK1+c.496-45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220789236">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2312,210,0:127	1|1:0,66:66:99:2301,198,0:127	1|1:0,53:53:99:1813,159,0:127
1	220789355	.	AT	A	2735.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs369680057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=369680057" target="_blank">rs369680057</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.552+19delT;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553delT;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553delT;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553delT;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553delT;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553delT;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553delT;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553delT;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553delT;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553delT;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366917;SAVANT_GENE=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;SAVANT_INFO=+/133.9kb/18/2.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.552+25delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MARK1+c.552+25delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220789355">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,18:29:99:439,0,222:127	0/1:19,24:43:99:569,0,392:127	0/1:13,17:30:99:422,0,255:127
1	220808921	.	T	C	10678.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10746403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10746403" target="_blank">rs10746403</a>;ExAC.Info.AC=85330;ExAC.Info.AN=126470;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=25299;ExAC.Info.AC_Hom=28529;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1276+50T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366917;SAVANT_GENE=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;SAVANT_INFO=+/133.9kb/18/2.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1276+50T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MARK1+c.1276+50T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220808921">View</a>	GT:AD:DP:GQ:PL:TP	0/1:71,54:125:99:1426,0,1758:127	0/1:63,54:117:99:1657,0,1673:127	0/1:60,43:103:99:1169,0,1682:127
1	220824115	.	G	C	7990.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12123306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12123306" target="_blank">rs12123306</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1571+53G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366917;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366917;SAVANT_GENE=MARK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARK1" target="_blank">MARK1</a>;SAVANT_INFO=+/133.9kb/18/2.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1571+53G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MARK1+c.1571+53G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220824115">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,36:77:99:1072,0,1292:127	0/1:56,47:103:99:1299,0,1666:127	0/1:54,47:101:99:1253,0,1661:127
1	220970028	.	A	G	6050.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2642438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2642438" target="_blank">rs2642438</a>;ExAC.Info.AC=95463;ExAC.Info.AN=126700;ExAC.Info.AF=0.753;ExAC.Info.AC_Het=22829;ExAC.Info.AC_Hom=36254;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=MARC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARC1" target="_blank">MARC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366910;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=MARC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARC1" target="_blank">MARC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366910;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=MARC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARC1" target="_blank">MARC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366910;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=MARC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARC1" target="_blank">MARC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366910;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=MARC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARC1" target="_blank">MARC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366910;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=MARC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARC1" target="_blank">MARC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366910;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=MARC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARC1" target="_blank">MARC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366910;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr165Ala/c.493A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=MARC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARC1" target="_blank">MARC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366910;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366910;SAVANT_GENE=MOSC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOSC1" target="_blank">MOSC1</a>;SAVANT_INFO=+/27.6kb/7/2.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.493A>G_p.Thr165Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOSC1+c.493A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:220970028">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,24:57:99:658,0,919:127	0/1:46,27:73:99:727,0,1440:127	0/1:36,31:67:99:837,0,1100:127
1	221053545	.	T	C	5854.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12141189;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12141189" target="_blank">rs12141189</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=29404;ExAC.Info.AN=126030;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=21150;ExAC.Info.AC_Hom=3477;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346T>C;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=HLX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HLX" target="_blank">HLX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366903;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Cca;snpeff.Amino_Acid_Change=p.Ser116Pro/c.346T>C;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=HLX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HLX" target="_blank">HLX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366903;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366903;SAVANT_GENE=HLX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HLX" target="_blank">HLX</a>;SAVANT_INFO=+/7.4kb/4/4.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.346T>C_p.Ser116Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HLX+c.346T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:221053545">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,32:64:99:868,0,838:120	1|0:38,50:88:99:1485,0,903:120	0|0:40,0:40:99:0,120,1312:120
1	221055463	.	G	A	13793.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2247213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2247213" target="_blank">rs2247213</a>;ExAC.Info.AC=39743;ExAC.Info.AN=126628;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=25933;ExAC.Info.AC_Hom=6533;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.773-43G>A;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=HLX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HLX" target="_blank">HLX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366903;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366903;SAVANT_GENE=HLX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HLX" target="_blank">HLX</a>;SAVANT_INFO=+/7.4kb/4/4.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.773-43G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HLX+c.773-43G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:221055463">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,64:120:99:1922,0,1658:127	0/1:63,82:145:99:2563,0,1817:127	0/1:76,49:125:99:1444,0,2133:127
1	221057646	.	C	T	11353.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2738755;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2738755" target="_blank">rs2738755</a>;ExAC.Info.AC=39755;ExAC.Info.AN=126674;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=26139;ExAC.Info.AC_Hom=6625;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro356Leu/c.1067C>T;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=HLX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HLX" target="_blank">HLX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366903;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366903;SAVANT_GENE=HLX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HLX" target="_blank">HLX</a>;SAVANT_INFO=+/7.4kb/4/4.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1067C>T_p.Pro356Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HLX+c.1067C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:221057646">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,23:56:99:842,0,1185:127	0/1:20,45:65:99:1760,0,716:127	0/1:32,47:79:99:1815,0,1216:127
1	221057662	.	G	A	11084.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3738182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738182" target="_blank">rs3738182</a>;ExAC.Info.AC=23281;ExAC.Info.AN=126658;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=18596;ExAC.Info.AC_Hom=2169;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu361Glu/c.1083G>A;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=HLX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HLX" target="_blank">HLX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366903;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366903;SAVANT_GENE=HLX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HLX" target="_blank">HLX</a>;SAVANT_INFO=+/7.4kb/4/4.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1083G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HLX+c.1083G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:221057662">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,25:54:99:925,0,1096:127	0/1:26,41:67:99:1610,0,945:127	0/1:37,44:81:99:1758,0,1322:127
1	221509335	.	A	C	2386.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72746037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72746037" target="_blank">rs72746037</a>;ExAC.Info.AC=2562;ExAC.Info.AN=25062;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=2106;ExAC.Info.AC_Hom=188;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.304T>G;snpeff.Gene_Name=RP11-421L10.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-421L101" target="_blank">RP11-421L101</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000439004;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-421L101" target="_blank">RP11-421L101</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-421L101+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:221509335">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,255,2765:127	0|1:39,44:83:99:1212,0,1268:127	0|0:78,0:78:99:0,234,2691:127
1	221912361	.	T	C	11137.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=193;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1141714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1141714" target="_blank">rs1141714</a>;ExAC.Info.AC=85187;ExAC.Info.AN=126704;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=27430;ExAC.Info.AC_Hom=28876;snpeff.Effect=sequence_feature[domain:Rhodanese];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726T>C;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=DUSP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP10" target="_blank">DUSP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366899;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rhodanese];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726T>C;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=DUSP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP10" target="_blank">DUSP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366899;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu242Glu/c.726A>G;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=DUSP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP10" target="_blank">DUSP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366899;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366899;SAVANT_GENE=DUSP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP10" target="_blank">DUSP10</a>;SAVANT_INFO=-/40.8kb/4/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.726A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP10+c.726A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:221912361">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,34:58:99:999,0,622:127	1|1:0,85:85:99:2879,254,0:127	0|1:28,22:50:99:677,0,743:127
1	221912808	.	T	C	7682.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=325;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1136448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1136448" target="_blank">rs1136448</a>;ExAC.Info.AC=49278;ExAC.Info.AN=126704;ExAC.Info.AF=0.389;ExAC.Info.AC_Het=28903;ExAC.Info.AC_Hom=10146;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln93Gln/c.279A>G;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=DUSP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP10" target="_blank">DUSP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366899;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366899;SAVANT_GENE=DUSP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP10" target="_blank">DUSP10</a>;SAVANT_INFO=-/40.8kb/4/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.279A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP10+c.279A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:221912808">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,60:107:99:1772,0,1328:127	1|0:59,49:108:99:1448,0,1639:127	0|0:110,0:110:99:0,330,3745:127
1	222697088	.	G	A	14773.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3748662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748662" target="_blank">rs3748662</a>;ExAC.Info.AC=35603;ExAC.Info.AN=126690;ExAC.Info.AF=0.281;ExAC.Info.AC_Het=25364;ExAC.Info.AC_Hom=5049;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1806-52C>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1806G>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1806G>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1806G>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1806G>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343410;SAVANT_GENE=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;SAVANT_INFO=-/25.8kb/9/2.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1806-52C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHIPL2+c.1806-52C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222697088">View</a>	GT:AD:DP:GQ:PL:TP	0/1:88,68:156:99:1741,0,2371:127	0/1:101,86:187:99:2447,0,2778:127	0/1:68,61:129:99:1801,0,1751:127
1	222700416	.	C	T	14198.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=504;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1487523;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1487523" target="_blank">rs1487523</a>;ExAC.Info.AC=36985;ExAC.Info.AN=126636;ExAC.Info.AF=0.292;ExAC.Info.AC_Het=24604;ExAC.Info.AC_Hom=5037;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1724-24G>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1724C>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1724C>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1724C>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1724C>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343410;SAVANT_GENE=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;SAVANT_INFO=-/25.8kb/9/2.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1724-24G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHIPL2+c.1724-24G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222700416">View</a>	GT:AD:DP:GQ:PL:TP	0/1:79,68:147:99:1657,0,2251:127	0/1:87,99:186:99:2677,0,2655:127	0/1:106,65:171:99:1745,0,3267:127
1	222705270	.	T	C	12593.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4846373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4846373" target="_blank">rs4846373</a>;ExAC.Info.AC=56000;ExAC.Info.AN=126652;ExAC.Info.AF=0.442;ExAC.Info.AC_Het=28444;ExAC.Info.AC_Hom=13524;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1723+38A>G;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1724T>C;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1724T>C;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1724T>C;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1724T>C;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343410;SAVANT_GENE=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;SAVANT_INFO=-/25.8kb/9/2.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1723+38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHIPL2+c.1723+38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222705270">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,46:89:99:1300,0,1238:127	0|1:63,52:115:99:1454,0,1938:127	1|1:0,92:92:99:3154,276,0:127
1	222713501	.	C	A	2678.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748663" target="_blank">rs3748663</a>;ExAC.Info.AC=8898;ExAC.Info.AN=126704;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=8174;ExAC.Info.AC_Hom=371;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1301C>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1301C>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1301C>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1301C>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1301C>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cTc;snpeff.Amino_Acid_Change=p.Arg434Leu/c.1301G>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343410;SAVANT_GENE=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;SAVANT_INFO=-/25.8kb/9/2.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1301G>T_p.Arg434Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHIPL2+c.1301G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222713501">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,310,4197:127	0|0:116,0:116:99:0,349,4564:127	0|1:48,45:93:99:1358,0,1921:127
1	222713503	.	C	G	11350.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3748664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748664" target="_blank">rs3748664</a>;ExAC.Info.AC=43339;ExAC.Info.AN=126704;ExAC.Info.AF=0.342;ExAC.Info.AC_Het=26929;ExAC.Info.AC_Hom=8198;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299C>G;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299C>G;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299C>G;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299C>G;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1299C>G;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acC;snpeff.Amino_Acid_Change=p.Thr433Thr/c.1299G>C;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343410;SAVANT_GENE=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;SAVANT_INFO=-/25.8kb/9/2.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1299G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHIPL2+c.1299G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222713503">View</a>	GT:AD:DP:GQ:PL:TP	0/1:52,49:101:99:1493,0,1486:127	0/1:63,52:115:99:1658,0,1823:127	0/1:46,46:92:99:1464,0,1836:127
1	222713621	.	C	T	1410.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748665" target="_blank">rs3748665</a>;ExAC.Info.AC=8787;ExAC.Info.AN=126700;ExAC.Info.AF=0.069;ExAC.Info.AC_Het=8053;ExAC.Info.AC_Hom=366;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1181C>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1181C>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1181C>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1181C>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1181C>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg394Gln/c.1181G>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343410;SAVANT_GENE=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;SAVANT_INFO=-/25.8kb/9/2.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1181G>A_p.Arg394Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHIPL2+c.1181G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222713621">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,150,1977:127	0|0:67,0:67:99:0,202,2689:127	0|1:19,25:44:99:724,0,700:127
1	222713631	.	G	C	5683.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748666;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748666" target="_blank">rs3748666</a>;ExAC.Info.AC=43338;ExAC.Info.AN=126694;ExAC.Info.AF=0.342;ExAC.Info.AC_Het=26924;ExAC.Info.AC_Hom=8195;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171G>C;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171G>C;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171G>C;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171G>C;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171G>C;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cat/Gat;snpeff.Amino_Acid_Change=p.His391Asp/c.1171C>G;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343410;SAVANT_GENE=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;SAVANT_INFO=-/25.8kb/9/2.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1171C>G_p.His391Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHIPL2+c.1171C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222713631">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,25:48:99:851,0,702:127	0/1:32,31:63:99:1032,0,1009:127	0/1:20,18:38:99:544,0,786:127
1	222721288	.	C	T	16237.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4846382;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4846382" target="_blank">rs4846382</a>;ExAC.Info.AC=79335;ExAC.Info.AN=125204;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=27163;ExAC.Info.AC_Hom=25797;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.99C>T;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttG/ttA;snpeff.Amino_Acid_Change=p.Leu33Leu/c.99G>A;snpeff.Amino_Acid_length=724;snpeff.Gene_Name=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343410;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343410;SAVANT_GENE=HHIPL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HHIPL2" target="_blank">HHIPL2</a>;SAVANT_INFO=-/25.8kb/9/2.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.99G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HHIPL2+c.99G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222721288">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1646,147,0:127	1|1:0,77:77:99:2731,231,0:127	1|1:0,63:63:99:2029,189,0:127
1	222734803	.	G	C	14622.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=459;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1134898;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1134898" target="_blank">rs1134898</a>;ExAC.Info.AC=54964;ExAC.Info.AN=126700;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=29190;ExAC.Info.AC_Hom=12846;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggG;snpeff.Amino_Acid_Change=p.Gly381Gly/c.1143C>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=TAF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF1A" target="_blank">TAF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000352967;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350027;SAVANT_GENE=TAF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF1A" target="_blank">TAF1A</a>;SAVANT_INFO=-/32.0kb/12/1.9kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1143C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF1A+c.1143C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222734803">View</a>	GT:AD:DP:GQ:PL:TP	0/1:72,71:143:99:2229,0,2184:127	0/1:83,80:163:99:2400,0,2598:127	0/1:97,56:153:99:1563,0,2952:127
1	222737481	.	C	G	2761.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs17464254;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17464254" target="_blank">rs17464254</a>;ExAC.Info.AC=12981;ExAC.Info.AN=126616;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=11379;ExAC.Info.AC_Hom=776;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.895-14G>C;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=TAF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF1A" target="_blank">TAF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000352967;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350027;SAVANT_GENE=TAF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF1A" target="_blank">TAF1A</a>;SAVANT_INFO=-/32.0kb/12/1.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.895-14G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF1A+c.895-14G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222737481">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,15:32:99:357,0,551:127	0/1:26,16:42:99:366,0,783:127	0/1:14,17:31:99:508,0,426:127
1	222742676	.	T	C	2272.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=58;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4846766;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4846766" target="_blank">rs4846766</a>;ExAC.Info.AC=51997;ExAC.Info.AN=99090;ExAC.Info.AF=0.525;ExAC.Info.AC_Het=5863;ExAC.Info.AC_Hom=4951;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.894+176A>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=TAF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF1A" target="_blank">TAF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000352967;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350027;SAVANT_GENE=TAF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF1A" target="_blank">TAF1A</a>;SAVANT_INFO=-/32.0kb/12/1.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.894+176A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF1A+c.894+176A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222742676">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,11:19:99:341,0,209:127	0/1:10,10:20:99:321,0,237:127	0/1:5,14:19:99:483,0,133:127
1	222798106	.	G	A	15475.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3008617;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008617" target="_blank">rs3008617</a>;ExAC.Info.AC=124960;ExAC.Info.AN=125056;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=90;ExAC.Info.AC_Hom=61450;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.268-4G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344922;SAVANT_GENE=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;SAVANT_INFO=+/49.9kb/28/8.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.268-4G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIA3+c.268-4G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222798106">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1793,165,0:127	1|1:0,73:73:99:2439,219,0:127	1|1:0,70:70:99:2288,210,0:127
1	222802006	.	A	G	38583.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=454;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2936053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2936053" target="_blank">rs2936053</a>;ExAC.Info.AC=124903;ExAC.Info.AN=125112;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=196;ExAC.Info.AC_Hom=61944;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444A>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444A>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444A>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444A>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444A>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444A>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444A>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys482Glu/c.1444A>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344922;SAVANT_GENE=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;SAVANT_INFO=+/49.9kb/28/8.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1444A>G_p.Lys482Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIA3+c.1444A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222802006">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:4983,415,0:127	1|1:0,168:168:99:6364,505,0:127	1|1:0,148:148:99:5443,445,0:127
1	222802803	.	T	G	38365.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=486;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748626" target="_blank">rs3748626</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=79398;ExAC.Info.AN=125186;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=26497;ExAC.Info.AC_Hom=26312;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2241T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2241T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2241T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2241T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2241T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2241T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccG;snpeff.Amino_Acid_Change=p.Pro747Pro/c.2241T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344922;SAVANT_GENE=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;SAVANT_INFO=+/49.9kb/28/8.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.2241T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIA3+c.2241T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222802803">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,139:139:99:4894,418,0:127	1|1:0,183:183:99:6519,550,0:127	1|1:0,164:164:99:5875,493,0:127
1	222802926	.	C	T	45148.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=580;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs3008620;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008620" target="_blank">rs3008620</a>;ExAC.Info.AC=108700;ExAC.Info.AN=125144;ExAC.Info.AF=0.869;ExAC.Info.AC_Het=13222;ExAC.Info.AC_Hom=47543;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2364C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2364C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2364C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2364C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2364C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2364C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser788Ser/c.2364C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344922;SAVANT_GENE=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;SAVANT_INFO=+/49.9kb/28/8.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.2364C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIA3+c.2364C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222802926">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,172:172:99:5932,516,0:127	1|1:0,200:200:99:6834,601,0:127	1|1:0,208:208:99:7205,625,0:127
1	222821211	.	C	T	3975.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs61824282;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61824282" target="_blank">rs61824282</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3610-960C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3610C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3610C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3610C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3610C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3610C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3610C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3610C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" 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target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222821211">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,12:32:99:278,0,526:125	1|1:0,42:42:99:1392,126,0:125	0|1:28,10:38:99:234,0,861:125
1	222823743	.	T	G	9201.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs67180937;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67180937" target="_blank">rs67180937</a>;ExAC.Info.AC=75700;ExAC.Info.AN=122694;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=15318;ExAC.Info.AC_Hom=13428;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3720+21T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a 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target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" 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target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3721T>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344922;SAVANT_GENE=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;SAVANT_INFO=+/49.9kb/28/8.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.3720+21T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIA3+c.3720+21T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222823743">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1426,111,0:98	1|1:0,33:33:99:1235,99,0:98	1|1:1,38:39:99:1446,107,0:98
1	222825403	.	G	A	6999.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3002150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3002150" target="_blank">rs3002150</a>;ExAC.Info.AC=119212;ExAC.Info.AN=125078;ExAC.Info.AF=0.953;ExAC.Info.AC_Het=5374;ExAC.Info.AC_Hom=56770;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3981+13G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" 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target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" 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target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3982G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344922;SAVANT_GENE=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;SAVANT_INFO=+/49.9kb/28/8.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.3981+13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIA3+c.3981+13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222825403">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1206,117,0:56	1|1:0,37:37:99:1241,111,0:56	1|1:0,19:19:57:706,57,0:56
1	222825717	.	T	C	34962.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=435;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10495198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10495198" target="_blank">rs10495198</a>;ExAC.Info.AC=79718;ExAC.Info.AN=124948;ExAC.Info.AF=0.638;ExAC.Info.AC_Het=25233;ExAC.Info.AC_Hom=26057;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4086+43T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4087T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344922;SAVANT_GENE=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;SAVANT_INFO=+/49.9kb/28/8.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.4086+43T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIA3+c.4086+43T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222825717">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:4637,409,0:127	1|1:0,148:148:99:5148,445,0:127	1|1:0,151:151:99:5260,453,0:127
1	222826481	.	G	A	15557.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2291832;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291832" target="_blank">rs2291832</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=79388;ExAC.Info.AN=125110;ExAC.Info.AF=0.635;ExAC.Info.AC_Het=25823;ExAC.Info.AC_Hom=26645;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4209+9G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4210G>A;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344922;SAVANT_GENE=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;SAVANT_INFO=+/49.9kb/28/8.1kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.4209+9G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIA3+c.4209+9G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222826481">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1675,141,0:127	1|1:0,77:77:99:2756,231,0:127	1|1:0,60:60:99:2168,180,0:127
1	222833538	.	C	G	6265.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2291835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291835" target="_blank">rs2291835</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=19327;ExAC.Info.AN=125208;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=16015;ExAC.Info.AC_Hom=1647;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1317G>C;snpeff.Gene_Name=RP11-378J18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608771;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" 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target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4995C>G;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" 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href="https://www.google.com/search?q=MIA3+c.4995C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222833538">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,40:92:99:1168,0,1524:127	0|0:124,0:124:99:0,373,4335:127	1|0:51,39:90:99:1179,0,1698:127
1	222833601	.	T	C	15912.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3002153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3002153" target="_blank">rs3002153</a>;ExAC.Info.AC=124926;ExAC.Info.AN=125146;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=212;ExAC.Info.AC_Hom=62296;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1254A>G;snpeff.Gene_Name=RP11-378J18.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608771;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5058T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a 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target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5058T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro1686Pro/c.5058T>C;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-378J188" target="_blank">RP11-378J188</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344922;SAVANT_GENE=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;SAVANT_INFO=+/49.9kb/28/8.1kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.5058T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIA3+c.5058T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222833601">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1847,168,0:127	1|1:0,71:71:99:2520,214,0:127	1|1:0,66:66:99:2361,198,0:127
1	222838216	.	C	T	17710.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2936026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2936026" target="_blank">rs2936026</a>;ExAC.Info.AC=18753;ExAC.Info.AN=20398;ExAC.Info.AF=0.919;ExAC.Info.AC_Het=1124;ExAC.Info.AC_Hom=7059;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5414-435C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5414C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a 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target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5414C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5414C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5414C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5414C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5414C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5414C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5414C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5414C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5414C>T;snpeff.Amino_Acid_length=1907;snpeff.Gene_Name=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344922;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344922;SAVANT_GENE=MIA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIA3" target="_blank">MIA3</a>;SAVANT_INFO=+/49.9kb/28/8.1kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.5414-435C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIA3+c.5414-435C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222838216">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2560,228,0:127	1|1:0,85:85:99:2951,255,0:127	1|1:0,71:71:99:2331,213,0:127
1	222886119	.	A	G	40509.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3811465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811465" target="_blank">rs3811465</a>;ExAC.Info.AC=12604;ExAC.Info.AN=16588;ExAC.Info.AF=0.760;ExAC.Info.AC_Het=1953;ExAC.Info.AC_Hom=3650;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AIDA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIDA" target="_blank">AIDA</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2923;snpeff.Amino_Acid_Change=c.-182A>G;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=BROX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIDA" target="_blank">AIDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340934;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=BROX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIDA" target="_blank">AIDA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340934;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340934;SAVANT_GENE=BROX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BROX" target="_blank">BROX</a>;SAVANT_INFO=+/22.6kb/13/4.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-2923A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BROX+c.-2923A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222886119">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4593,375,0:127	1|1:0,182:182:99:6928,547,0:127	1|1:0,133:133:99:4921,400,0:127
1	222923351	.	A	G	8989.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6683071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6683071" target="_blank">rs6683071</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=100550;ExAC.Info.AN=125262;ExAC.Info.AF=0.803;ExAC.Info.AC_Het=19559;ExAC.Info.AC_Hom=40424;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln143Arg/c.428A>G;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=FAM177B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM177B" target="_blank">FAM177B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360827;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445590;SAVANT_GENE=FAM177B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM177B" target="_blank">FAM177B</a>;SAVANT_INFO=+/13.4kb/6/1.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.428A>G_p.Gln143Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM177B+c.428A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:222923351">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1318,105,0:101	1|1:0,35:35:99:1226,105,0:101	1|1:0,35:35:99:1225,105,0:101
1	223156382	.	C	T	10373.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2926159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2926159" target="_blank">rs2926159</a>;ExAC.Info.AC=126671;ExAC.Info.AN=126684;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=12;ExAC.Info.AC_Hom=63095;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.510-40C>T;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=DISP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP1" target="_blank">DISP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284476;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284476;SAVANT_GENE=DISP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP1" target="_blank">DISP1</a>;SAVANT_INFO=+/77.6kb/8/4.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.510-40C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISP1+c.510-40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223156382">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1350,120,0:127	1|1:0,53:53:99:1885,159,0:127	1|1:0,48:48:99:1622,144,0:127
1	223156406	.	CT	C	214.05	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.510-15delT;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=DISP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP1" target="_blank">DISP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284476;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000284476;SAVANT_GENE=DISP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP1" target="_blank">DISP1</a>;SAVANT_INFO=+/77.6kb/8/4.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.510-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISP1+c.510-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223156406">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,7:41:56:56,0,782:55	1|0:32,8:40:94:94,0,716:55	0|0:46,2:48:88:0,88,1144:55
1	223177974	.	G	A	2112.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76611705;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76611705" target="_blank">rs76611705</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=3200;ExAC.Info.AN=126700;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=3001;ExAC.Info.AC_Hom=99;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3235G>A;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=DISP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP1" target="_blank">DISP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284476;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val1079Met/c.3235G>A;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=DISP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP1" target="_blank">DISP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284476;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284476;SAVANT_GENE=DISP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP1" target="_blank">DISP1</a>;SAVANT_INFO=+/77.6kb/8/4.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.3235G>A_p.Val1079Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISP1+c.3235G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223177974">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,229,2714:127	0|0:126,0:126:99:0,379,4437:127	0|1:62,38:100:99:1075,0,1819:127
1	223178477	.	C	T	3502.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72744122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72744122" target="_blank">rs72744122</a>;ExAC.Info.AC=3224;ExAC.Info.AN=126704;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=3017;ExAC.Info.AC_Hom=103;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp1246Asp/c.3738C>T;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=DISP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP1" target="_blank">DISP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284476;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284476;SAVANT_GENE=DISP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP1" target="_blank">DISP1</a>;SAVANT_INFO=+/77.6kb/8/4.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.3738C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISP1+c.3738C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223178477">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,298,3488:127	0|0:129,1:130:99:0,354,4582:127	0|1:51,59:110:99:1770,0,1408:127
1	223178561	.	A	C	30621.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs9441941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9441941" target="_blank">rs9441941</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=69108;ExAC.Info.AN=126704;ExAC.Info.AF=0.545;ExAC.Info.AC_Het=31145;ExAC.Info.AC_Hom=18936;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro1274Pro/c.3822A>C;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=DISP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP1" target="_blank">DISP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284476;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284476;SAVANT_GENE=DISP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISP1" target="_blank">DISP1</a>;SAVANT_INFO=+/77.6kb/8/4.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.3822A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISP1+c.3822A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223178561">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,158:159:99:5551,437,0:127	1|1:1,157:158:99:5622,434,0:127	1|0:54,70:124:99:1955,0,1579:127
1	223283910	.	A	G	55594.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=730;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7512943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7512943" target="_blank">rs7512943</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_function;hgmd_2014.2.OMIM_ID=603031;hgmd_2014.2.PubMed=16470719;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16470719" target="_blank">16470719</a>;ExAC.Info.AC=126701;ExAC.Info.AN=126702;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=63328;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe822Leu/c.2464T>C;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=TLR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR5" target="_blank">TLR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366881;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540964;SAVANT_GENE=TLR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR5" target="_blank">TLR5</a>;SAVANT_INFO=-/27.9kb/4/4.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.2464T>C_p.Phe822Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TLR5+c.2464T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223283910">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,214:214:99:7485,645,0:127	1|1:0,267:267:99:9646,802,0:127	1|1:0,249:249:99:8623,747,0:127
1	223284069	.	G	A	5146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=480;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56243703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56243703" target="_blank">rs56243703</a>;ExAC.Info.AC=408;ExAC.Info.AN=126704;ExAC.Info.AF=3.220e-03;ExAC.Info.AC_Het=404;ExAC.Info.AC_Hom=2;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Ttt;snpeff.Amino_Acid_Change=p.Leu769Phe/c.2305C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=TLR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR5" target="_blank">TLR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366881;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540964;SAVANT_GENE=TLR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR5" target="_blank">TLR5</a>;SAVANT_INFO=-/27.9kb/4/4.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.2305C>T_p.Leu769Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TLR5+c.2305C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223284069">View</a>	GT:AD:DP:GQ:PL:TP	0|0:163,0:163:99:0,490,5927:127	0|1:102,92:194:99:2592,0,3139:127	0|0:123,0:123:99:0,369,4614:127
1	223284528	.	A	G	11779.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs5744174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5744174" target="_blank">rs5744174</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Chronic_yersiniosis_susceptibility;hgmd_2014.2.OMIM_ID=603031;hgmd_2014.2.PubMed=21071776;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21071776" target="_blank">21071776</a>;ExAC.Info.AC=49470;ExAC.Info.AN=126700;ExAC.Info.AF=0.390;ExAC.Info.AC_Het=28703;ExAC.Info.AC_Hom=10351;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe616Leu/c.1846T>C;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=TLR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR5" target="_blank">TLR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366881;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540964;SAVANT_GENE=TLR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR5" target="_blank">TLR5</a>;SAVANT_INFO=-/27.9kb/4/4.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1846T>C_p.Phe616Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TLR5+c.1846T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223284528">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,60:107:99:1914,0,1324:127	0/1:78,72:150:99:2056,0,2277:127	0/1:73,41:114:99:1145,0,2202:127
1	223285200	.	G	A	4420.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=D;dbSNP139.ID=rs5744168;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5744168" target="_blank">rs5744168</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Legionnaires_disease|_association_with;hgmd_2014.2.OMIM_ID=603031;hgmd_2014.2.PubMed=14623910;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=14623910" target="_blank">14623910</a>;ExAC.Info.AC=7010;ExAC.Info.AN=126698;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=6478;ExAC.Info.AC_Hom=263;Clinvar.ClinicalSignificance=Pathogenic|risk_factor;Clinvar.RCVaccession=RCV000007037|RCV000007038|RCV000074501;Clinvar.PhenotypeIDs=MedGen:C1837872|OMIM:608556|MedGen:C1864265|MedGen:CN182252;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cga/Tga;snpeff.Amino_Acid_Change=p.Arg392*/c.1174C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=TLR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR5" target="_blank">TLR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366881;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540964;SAVANT_GENE=TLR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR5" target="_blank">TLR5</a>;SAVANT_INFO=-/27.9kb/4/4.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1174C>T_p.Arg392X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TLR5+c.1174C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223285200">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007037%20OR%20RCV000007038%20OR%20RCV000074501" target="_blank">Pathogenic|risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0|0:114,0:114:99:0,343,4030:127	0|0:159,0:159:99:0,477,5329:127	0|1:63,75:138:99:2229,0,1945:127
1	223285833	.	G	T	4182.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs45528236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45528236" target="_blank">rs45528236</a>;ExAC.Info.AC=7010;ExAC.Info.AN=126702;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=6481;ExAC.Info.AC_Hom=263;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Caa/Aaa;snpeff.Amino_Acid_Change=p.Gln181Lys/c.541C>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=TLR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR5" target="_blank">TLR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366881;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540964;SAVANT_GENE=TLR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR5" target="_blank">TLR5</a>;SAVANT_INFO=-/27.9kb/4/4.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.541C>A_p.Gln181Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TLR5+c.541C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223285833">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,0:149:99:0,448,5298:127	0|0:202,0:202:99:0,607,7404:127	0|1:77,72:149:99:2110,0,2531:127
1	223715248	.	GT	G	2998.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs36108579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36108579" target="_blank">rs36108579</a>;ExAC.Info.AC=12891;ExAC.Info.AN=27128;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=5508;ExAC.Info.AC_Hom=3016;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2023-27delA;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2023-27delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.2023-27delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223715248">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,14:27:99:443,0,404:127	0/1:17,12:29:99:362,0,548:127	0/1:18,12:30:99:359,0,583:127
1	223716349	.	G	A	11357.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4072246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4072246" target="_blank">rs4072246</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2022+121C>T;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2022+121C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.2022+121C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223716349">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,60:108:99:1694,0,1288:127	0/1:65,58:123:99:1907,0,1854:127	0/1:47,42:89:99:1289,0,1352:127
1	223717484	.	G	A	7541.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs34158997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34158997" target="_blank">rs34158997</a>;ExAC.Info.AC=20708;ExAC.Info.AN=29250;ExAC.Info.AF=0.708;ExAC.Info.AC_Het=4411;ExAC.Info.AC_Hom=6626;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu636Leu/c.1908C>T;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.1908C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.1908C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223717484">View</a>	GT:AD:DP:GQ:PL:TP	0/1:40,41:81:99:1060,0,1113:127	0/1:31,36:67:99:1047,0,858:127	0/1:28,35:63:99:1090,0,766:127
1	223718518	.	C	A	5822.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61823552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61823552" target="_blank">rs61823552</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1767+75G>T;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1767+75G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.1767+75G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223718518">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,35:67:99:959,0,985:127	0/1:23,28:51:99:837,0,706:127	0/1:36,29:65:99:757,0,1060:127
1	223718651	.	G	A	8305.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=277;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61823553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61823553" target="_blank">rs61823553</a>;ExAC.Info.AC=13091;ExAC.Info.AN=26774;ExAC.Info.AF=0.489;ExAC.Info.AC_Het=5915;ExAC.Info.AC_Hom=3249;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr570Met/c.1709C>T;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1709C>T_p.Thr570Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.1709C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223718651">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,40:89:99:1089,0,1390:127	0/1:52,36:88:99:1057,0,1504:127	0/1:66,34:100:99:925,0,1864:127
1	223718670	.	G	A	8152.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61823554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61823554" target="_blank">rs61823554</a>;ExAC.Info.AC=13203;ExAC.Info.AN=26868;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=5970;ExAC.Info.AC_Hom=3281;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1699-9C>T;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1699-9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.1699-9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223718670">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,39:86:99:1007,0,1323:127	0/1:51,37:88:99:1104,0,1422:127	0/1:68,30:98:99:800,0,1892:127
1	223722780	.	G	A	11513.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs34606532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34606532" target="_blank">rs34606532</a>;ExAC.Info.AC=13596;ExAC.Info.AN=27566;ExAC.Info.AF=0.493;ExAC.Info.AC_Het=6159;ExAC.Info.AC_Hom=3373;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cga/Tga;snpeff.Amino_Acid_Change=p.Arg538*/c.1612C>T;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;LOF=(CAPN8|ENSG00000203697|1|1.00);NMD=(CAPN8|ENSG00000203697|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1612C>T_p.Arg538X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.1612C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223722780">View</a>	GT:AD:DP:GQ:PL:TP	0/1:54,47:101:99:1296,0,1579:127	0/1:68,71:139:99:2169,0,1973:127	0/1:70,51:121:99:1510,0,2089:127
1	223799857	.	C	T	9750.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs34786756;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34786756" target="_blank">rs34786756</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1466+3618G>A;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1466+3618G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.1466+3618G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223799857">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,46:83:99:1221,0,1101:127	1|1:0,66:66:99:2266,198,0:127	0|1:26,37:63:99:1091,0,817:127
1	223799871	.	C	T	10591.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs35116708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35116708" target="_blank">rs35116708</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1466+3604G>A;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1466+3604G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.1466+3604G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223799871">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,46:86:99:1278,0,1142:127	1|1:0,68:68:99:2472,204,0:127	0|1:29,38:67:99:1159,0,874:127
1	223813586	.	G	T	4061.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35539373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35539373" target="_blank">rs35539373</a>;ExAC.Info.AC=15254;ExAC.Info.AN=27638;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=5830;ExAC.Info.AC_Hom=4208;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tAc;snpeff.Amino_Acid_Change=p.Ser245Tyr/c.734C>A;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.734C>A_p.Ser245Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.734C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223813586">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,18:37:99:481,0,546:127	0/1:26,23:49:99:663,0,859:127	0/1:11,20:31:99:609,0,338:127
1	223814671	.	A	T	2413.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61825208;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61825208" target="_blank">rs61825208</a>;ExAC.Info.AC=14877;ExAC.Info.AN=27878;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=5645;ExAC.Info.AC_Hom=4082;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.729+20T>A;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.729+20T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.729+20T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223814671">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,10:29:99:241,0,553:127	0/1:22,12:34:99:356,0,633:127	0/1:11,8:19:99:254,0,291:127
1	223814682	.	A	T	4185.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs67990281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67990281" target="_blank">rs67990281</a>;ExAC.Info.AC=4125;ExAC.Info.AN=29056;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=3059;ExAC.Info.AC_Hom=363;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.729+9T>A;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.729+9T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.729+9T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223814682">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,23:37:99:643,0,382:127	0/1:20,24:44:99:705,0,568:127	0/1:13,16:29:99:501,0,391:127
1	223816322	.	A	G	15716.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs66602040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66602040" target="_blank">rs66602040</a>;ExAC.Info.AC=23250;ExAC.Info.AN=34326;ExAC.Info.AF=0.677;ExAC.Info.AC_Het=4133;ExAC.Info.AC_Hom=6955;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.426+42T>C;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.426+42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.426+42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223816322">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1733,141,0:120	1|1:0,72:72:99:2720,216,0:120	1|1:0,40:40:99:1570,120,0:120
1	223816347	.	A	G	20018.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs61825210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61825210" target="_blank">rs61825210</a>;ExAC.Info.AC=25023;ExAC.Info.AN=38366;ExAC.Info.AF=0.652;ExAC.Info.AC_Het=4233;ExAC.Info.AC_Hom=7254;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.426+17T>C;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.426+17T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.426+17T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223816347">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2159,186,0:127	1|1:0,102:102:99:3476,307,0:127	1|1:0,61:61:99:2116,183,0:127
1	223830566	.	G	A	23912.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=802;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11584107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11584107" target="_blank">rs11584107</a>;ExAC.Info.AC=4621;ExAC.Info.AN=14998;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=2546;ExAC.Info.AC_Hom=754;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.307+11466C>T;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.307+11466C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.307+11466C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223830566">View</a>	GT:AD:DP:GQ:PL:TP	0/1:128,101:229:99:2682,0,3524:127	0/1:162,156:318:99:4202,0,4784:127	0/1:127,128:255:99:3574,0,3840:127
1	223841913	.	C	A	3440.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11585533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11585533" target="_blank">rs11585533</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.307+119G>T;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.307+119G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.307+119G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223841913">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,18:45:99:488,0,782:127	0/1:18,17:35:99:517,0,528:127	0/1:14,11:25:99:359,0,446:127
1	223853099	.	C	A	11591.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=510;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs66700641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66700641" target="_blank">rs66700641</a>;ExAC.Info.AC=1713;ExAC.Info.AN=29692;ExAC.Info.AF=0.058;ExAC.Info.AC_Het=1470;ExAC.Info.AC_Hom=82;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.237+13G>T;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366872;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366872;SAVANT_GENE=CAPN8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN8" target="_blank">CAPN8</a>;SAVANT_INFO=-/138.4kb/20/2.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.237+13G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN8+c.237+13G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223853099">View</a>	GT:AD:DP:GQ:PL:TP	0|1:81,64:145:99:1682,0,2518:127	1|0:89,104:193:99:2882,0,2638:127	0|0:171,1:172:99:0,479,6050:127
1	223900408	.	C	G	29648.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs25655;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=25655" target="_blank">rs25655</a>;ExAC.Info.AC=122588;ExAC.Info.AN=123178;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=402;ExAC.Info.AC_Hom=49166;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaG;snpeff.Amino_Acid_Change=p.Asp22Glu/c.66C>G;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295006;SAVANT_GENE=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;SAVANT_INFO=+/63.7kb/21/3.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.66C>G_p.Asp22Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN2+c.66C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223900408">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2700,216,0:127	1|1:0,113:113:99:4246,343,0:127	1|1:0,87:87:99:3182,262,0:127
1	223905532	.	G	A	9912.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs17596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17596" target="_blank">rs17596</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=90959;ExAC.Info.AN=126698;ExAC.Info.AF=0.718;ExAC.Info.AC_Het=23630;ExAC.Info.AC_Hom=33551;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu102Leu/c.306G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295006;SAVANT_GENE=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;SAVANT_INFO=+/63.7kb/21/3.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.306G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN2+c.306G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223905532">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,36:72:99:978,0,1080:127	1|1:0,96:96:99:3241,288,0:127	0|0:70,0:70:99:0,210,2393:127
1	223934720	.	G	A	11824.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs17600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17600" target="_blank">rs17600</a>;ExAC.Info.AC=105312;ExAC.Info.AN=126700;ExAC.Info.AF=0.831;ExAC.Info.AC_Het=14514;ExAC.Info.AC_Hom=45376;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala194Ala/c.582G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295006;SAVANT_GENE=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;SAVANT_INFO=+/63.7kb/21/3.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.582G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN2+c.582G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223934720">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1267,111,0:127	1|1:0,57:57:99:2017,171,0:127	1|1:0,44:44:99:1522,132,0:127
1	223949314	.	G	C	9306.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28370127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28370127" target="_blank">rs28370127</a>;ExAC.Info.AC=885;ExAC.Info.AN=126704;ExAC.Info.AF=6.985e-03;ExAC.Info.AC_Het=880;ExAC.Info.AC_Hom=3;snpeff.Effect=sequence_feature[region_of_interest:Linker];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Linker];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Caa;snpeff.Amino_Acid_Change=p.Glu521Gln/c.1561G>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295006;SAVANT_GENE=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;SAVANT_INFO=+/63.7kb/21/3.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1561G>C_p.Glu521Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN2+c.1561G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223949314">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,75:138:99:2233,0,1612:127	0|0:152,0:152:99:0,457,5592:127	1|0:87,56:143:99:1563,0,2637:127
1	223951841	.	T	C	2278.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs751128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=751128" target="_blank">rs751128</a>;ExAC.Info.AC=52402;ExAC.Info.AN=126702;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=30480;ExAC.Info.AC_Hom=10953;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1633-11T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295006;SAVANT_GENE=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;SAVANT_INFO=+/63.7kb/21/3.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1633-11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN2+c.1633-11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223951841">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2038:127	0|0:73,0:73:99:0,219,2491:127	0|1:45,40:85:99:1158,0,1202:127
1	223951985	.	C	A	4999.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs737066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=737066" target="_blank">rs737066</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1690+76C>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1691C>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1691C>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1691C>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1691C>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1691C>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1691C>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1691C>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1691C>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1691C>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1691C>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295006;SAVANT_GENE=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;SAVANT_INFO=+/63.7kb/21/3.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1690+76C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN2+c.1690+76C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223951985">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,40:73:99:1107,0,851:127	0|0:52,0:52:99:0,156,1882:127	1|0:39,33:72:99:928,0,1203:127
1	223954080	.	A	C	9798.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17599" target="_blank">rs17599</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=28966;ExAC.Info.AN=126698;ExAC.Info.AF=0.229;ExAC.Info.AC_Het=21963;ExAC.Info.AC_Hom=3494;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1702A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1702A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1702A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1702A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1702A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1702A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1702A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1702A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Cag;snpeff.Amino_Acid_Change=p.Lys568Gln/c.1702A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295006;SAVANT_GENE=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;SAVANT_INFO=+/63.7kb/21/3.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1702A>C_p.Lys568Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN2+c.1702A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223954080">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,25:65:99:808,0,1178:127	1|1:0,101:101:99:3606,304,0:127	0|0:82,1:83:99:0,240,3004:127
1	223959796	.	G	A	6281.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1153950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1153950" target="_blank">rs1153950</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2021-87G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.2021G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295006;SAVANT_GENE=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;SAVANT_INFO=+/63.7kb/21/3.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2021-87G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN2+c.2021-87G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223959796">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,50:93:99:1443,0,1384:127	0|0:126,0:126:99:0,379,4963:127	1|0:55,44:99:99:1348,0,1817:127
1	223959959	.	G	A	3064.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=176;MQ=69.94;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1153949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1153949" target="_blank">rs1153949</a>;ExAC.Info.AC=13887;ExAC.Info.AN=126704;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=11738;ExAC.Info.AC_Hom=1065;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2079+18G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295006;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295006;SAVANT_GENE=CAPN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN2" target="_blank">CAPN2</a>;SAVANT_INFO=+/63.7kb/21/3.6kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2079+18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN2+c.2079+18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223959959">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,30:47:99:836,0,509:127	0|0:74,1:75:99:0,199,2571:127	1|0:31,23:54:99:533,0,925:127
1	223980207	.	G	C	7599.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1153936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1153936" target="_blank">rs1153936</a>;ExAC.Info.AC=15410;ExAC.Info.AN=126702;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=12418;ExAC.Info.AC_Hom=1466;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_APC2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2880G>C;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=TP53BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53BP2" target="_blank">TP53BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343537;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_APC2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2880G>C;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=TP53BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53BP2" target="_blank">TP53BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343537;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_APC2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2880G>C;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=TP53BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53BP2" target="_blank">TP53BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343537;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_APC2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2880G>C;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=TP53BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53BP2" target="_blank">TP53BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343537;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_APC2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2880G>C;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=TP53BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53BP2" target="_blank">TP53BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343537;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_APC2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2880G>C;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=TP53BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53BP2" target="_blank">TP53BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343537;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctG;snpeff.Amino_Acid_Change=p.Leu960Leu/c.2880C>G;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=TP53BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53BP2" target="_blank">TP53BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343537;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343537;SAVANT_GENE=TP53BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53BP2" target="_blank">TP53BP2</a>;SAVANT_INFO=-/66.1kb/18/4.7kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2880C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP53BP2+c.2880C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223980207">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,53:106:99:1562,0,1587:127	0|0:123,0:123:99:0,370,4656:127	1|0:43,48:91:99:1606,0,1327:127
1	223989966	.	C	T	5511.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1153933;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1153933" target="_blank">rs1153933</a>;ExAC.Info.AC=15297;ExAC.Info.AN=126702;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=12366;ExAC.Info.AC_Hom=1461;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser359Ser/c.1077G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=TP53BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53BP2" target="_blank">TP53BP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343537;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343537;SAVANT_GENE=TP53BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53BP2" target="_blank">TP53BP2</a>;SAVANT_INFO=-/66.1kb/18/4.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1077G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP53BP2+c.1077G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:223989966">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,42:89:99:1175,0,1320:127	0|0:154,0:154:99:0,463,5153:127	1|0:70,29:99:99:730,0,1981:127
1	224377724	.	C	T	4772.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=455;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6686449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6686449" target="_blank">rs6686449</a>;ExAC.Info.AC=4145;ExAC.Info.AN=126704;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=3993;ExAC.Info.AC_Hom=76;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe176Phe/c.528C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=DEGS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEGS1" target="_blank">DEGS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391877;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323699;SAVANT_GENE=DEGS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEGS1" target="_blank">DEGS1</a>;SAVANT_INFO=+/10.3kb/3/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.528C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEGS1+c.528C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224377724">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,400,4711:127	0|1:90,85:175:99:2405,0,2887:127	0|0:147,0:147:99:0,442,5212:127
1	224415509	.	A	G	2255.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3767732;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3767732" target="_blank">rs3767732</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1087A>G;snpeff.Gene_Name=RP11-365O16.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-365O166" target="_blank">RP11-365O166</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2527-137T>C;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-365O166" target="_blank">RP11-365O166</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281701;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281701;SAVANT_GENE=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;SAVANT_INFO=-/103.1kb/23/3.1kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2527-137T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NVL+c.2527-137T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224415509">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,16:30:99:498,0,371:127	0|0:53,0:53:99:0,159,1907:127	1|0:15,12:27:99:372,0,479:127
1	224444628	.	C	T	23728.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10799556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10799556" target="_blank">rs10799556</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2183-6608G>A;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281701;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2183C>T;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281701;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2183C>T;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281701;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281701;SAVANT_GENE=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;SAVANT_INFO=-/103.1kb/23/3.1kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2183-6608G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NVL+c.2183-6608G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224444628">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:3226,268,0:127	1|1:0,109:109:99:3919,328,0:127	1|1:0,82:82:99:2969,247,0:127
1	224492746	.	C	T	57605.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=749;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3754090;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3754090" target="_blank">rs3754090</a>;ExAC.Info.AC=115837;ExAC.Info.AN=126698;ExAC.Info.AF=0.914;ExAC.Info.AC_Het=8559;ExAC.Info.AC_Hom=53600;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu246Leu/c.738G>A;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281701;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281701;SAVANT_GENE=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;SAVANT_INFO=-/103.1kb/23/3.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.738G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NVL+c.738G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224492746">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,201:201:99:6381,604,0:127	1|1:0,303:303:99:10217,911,0:127	1|1:0,245:245:99:8134,736,0:127
1	224495852	.	C	T	54162.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=742;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7534447;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7534447" target="_blank">rs7534447</a>;ExAC.Info.AC=115905;ExAC.Info.AN=126704;ExAC.Info.AF=0.915;ExAC.Info.AC_Het=8546;ExAC.Info.AC_Hom=53674;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgA;snpeff.Amino_Acid_Change=p.Arg152Arg/c.456G>A;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281701;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281701;SAVANT_GENE=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;SAVANT_INFO=-/103.1kb/23/3.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.456G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NVL+c.456G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224495852">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,239:239:99:7863,718,0:127	1|1:0,280:280:99:9544,842,0:127	1|1:0,223:223:99:7731,670,0:127
1	224505570	.	T	TAA	21021.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3066969;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3066969" target="_blank">rs3066969</a>;ExAC.Info.AC=126607;ExAC.Info.AN=126630;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=23;ExAC.Info.AC_Hom=63124;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.184+10_184+9insTT;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281701;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000281701;SAVANT_GENE=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;SAVANT_INFO=-/103.1kb/23/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.184+8_184+9dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NVL+c.184+8_184+9dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224505570">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2968,204,0:127	1|1:0,64:64:99:2831,193,0:127	1|1:0,65:65:99:2871,195,0:127
1	224517842	.	C	T	19834.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2896990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2896990" target="_blank">rs2896990</a>;ExAC.Info.AC=116069;ExAC.Info.AN=126648;ExAC.Info.AF=0.916;ExAC.Info.AC_Het=8450;ExAC.Info.AC_Hom=53510;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=13;snpeff.Amino_Acid_Change=c.-13G>A;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281701;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281701;SAVANT_GENE=NVL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NVL" target="_blank">NVL</a>;SAVANT_INFO=-/103.1kb/23/3.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-13G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NVL+c.-13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224517842">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2071,199,0:127	1|1:0,98:98:99:3142,293,0:127	1|1:0,73:73:99:2309,217,0:127
1	224544746	.	G	A	3200.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs56105022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56105022" target="_blank">rs56105022</a>;ExAC.Info.AC=2434;ExAC.Info.AN=125556;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=1424;ExAC.Info.AC_Hom=25;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.69+51G>A;snpeff.Amino_Acid_length=139;snpeff.Gene_Name=CNIH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH4" target="_blank">CNIH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000465271;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.70G>A;snpeff.Amino_Acid_length=139;snpeff.Gene_Name=CNIH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH4" target="_blank">CNIH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000465271;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.70G>A;snpeff.Amino_Acid_length=139;snpeff.Gene_Name=CNIH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH4" target="_blank">CNIH4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000465271;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000465271;SAVANT_GENE=CNIH4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH4" target="_blank">CNIH4</a>;SAVANT_INFO=+/22.6kb/5/4.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.69+51G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNIH4+c.69+51G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224544746">View</a>	GT:AD:DP:GQ:PL:TP	0|0:119,0:119:99:0,358,4171:127	0|1:69,57:126:99:1619,0,2059:127	0|0:117,0:117:99:0,350,4069:127
1	224577599	.	C	G	1349.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=1708;ExAC.Info.AN=113676;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1557;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1961-37G>C;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR26" target="_blank">WDR26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414423;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000414423;SAVANT_GENE=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR26" target="_blank">WDR26</a>;SAVANT_INFO=-/49.2kb/14/6.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1961-37G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR26+c.1961-37G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224577599">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,22:53:99:198,0,582:104	0/1:51,24:75:99:104,0,1127:104	0/1:30,23:53:99:311,0,683:104
1	224585958	.	A	C	3573.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7522956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7522956" target="_blank">rs7522956</a>;ExAC.Info.AC=26710;ExAC.Info.AN=126664;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=19401;ExAC.Info.AC_Hom=3591;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56T>G;snpeff.Gene_Name=MIR4742;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4742" target="_blank">MIR4742</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000581069;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1645-30T>G;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4742" target="_blank">MIR4742</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414423;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000414423;SAVANT_GENE=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR26" target="_blank">WDR26</a>;SAVANT_INFO=-/49.2kb/14/6.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1645-30T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR26+c.1645-30T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224585958">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,25:57:99:706,0,911:127	0|0:75,0:75:99:0,225,2526:127	1|0:40,29:69:99:901,0,1137:127
1	224600910	.	C	A	7818.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=73;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10916612;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10916612" target="_blank">rs10916612</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1020-1643G>T;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR26" target="_blank">WDR26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414423;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000414423;SAVANT_GENE=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR26" target="_blank">WDR26</a>;SAVANT_INFO=-/49.2kb/14/6.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1020-1643G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR26+c.1020-1643G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224600910">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:776,57,0:71	1|1:0,24:24:72:1029,72,0:71	1|1:0,30:30:93:1309,93,0:71
1	224600920	.	C	A	7930.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=74;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10916613;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10916613" target="_blank">rs10916613</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1020-1653G>T;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR26" target="_blank">WDR26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414423;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000414423;SAVANT_GENE=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR26" target="_blank">WDR26</a>;SAVANT_INFO=-/49.2kb/14/6.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1020-1653G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR26+c.1020-1653G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224600920">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,17:17:51:715,51,0:80	1|1:0,27:27:81:1110,81,0:80	1|1:0,30:30:90:1274,90,0:80
1	224601029	.	T	C	87.15	VQSRTrancheSNP99.00to99.90	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1020-1762A>G;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR26" target="_blank">WDR26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414423;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000414423;SAVANT_GENE=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR26" target="_blank">WDR26</a>;SAVANT_INFO=-/49.2kb/14/6.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1020-1762A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR26+c.1020-1762A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224601029">View</a>	GT:AD:DP:GQ:PL:TP	0/1:54,9:63:99:120,0,1509:39	0/0:60,0:60:99:0,180,2147:39	0/0:49,0:49:99:0,147,1670:39
1	224621368	.	G	C	6893.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2405033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2405033" target="_blank">rs2405033</a>;ExAC.Info.AC=49538;ExAC.Info.AN=49550;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=6338;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.422+18C>G;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR26" target="_blank">WDR26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414423;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000414423;SAVANT_GENE=WDR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR26" target="_blank">WDR26</a>;SAVANT_INFO=-/49.2kb/14/6.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.422+18C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR26+c.422+18C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224621368">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1112,90,0:50	1|1:0,25:25:75:940,75,0:50	1|1:0,17:17:51:665,51,0:50
1	224868596	.	A	C	10740.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=483;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7525096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7525096" target="_blank">rs7525096</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.82-64A>C;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272133;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82A>C;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272133;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82A>C;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272133;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272133;SAVANT_GENE=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;SAVANT_INFO=+/124.3kb/6/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.82-64A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNIH3+c.82-64A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224868596">View</a>	GT:AD:DP:GQ:PL:TP	1|0:78,75:153:99:2192,0,2250:127	0|0:190,0:190:99:0,571,6623:127	1|0:67,73:140:99:2288,0,1964:127
1	224872443	.	A	G	5721.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3738364;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738364" target="_blank">rs3738364</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.151-55A>G;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272133;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272133;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272133;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272133;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272133;SAVANT_GENE=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;SAVANT_INFO=+/124.3kb/6/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.151-55A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNIH3+c.151-55A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224872443">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,32:62:99:1039,0,774:127	0|0:101,0:101:99:0,303,3302:127	1|0:48,40:88:99:1121,0,1324:127
1	224872473	.	A	G	7023.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3738363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738363" target="_blank">rs3738363</a>;ExAC.Info.AC=21228;ExAC.Info.AN=126700;ExAC.Info.AF=0.168;ExAC.Info.AC_Het=17106;ExAC.Info.AC_Hom=2057;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.151-25A>G;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272133;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272133;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272133;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=160;snpeff.Gene_Name=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272133;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272133;SAVANT_GENE=CNIH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNIH3" target="_blank">CNIH3</a>;SAVANT_INFO=+/124.3kb/6/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.151-25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNIH3+c.151-25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:224872473">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,41:87:99:1094,0,1309:127	0|0:137,0:137:99:0,411,4385:127	1|0:58,58:116:99:1568,0,1554:127
1	225230608	.	C	T	20047.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2501107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2501107" target="_blank">rs2501107</a>;ExAC.Info.AC=23508;ExAC.Info.AN=27186;ExAC.Info.AF=0.865;ExAC.Info.AC_Het=2279;ExAC.Info.AC_Hom=9825;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys520Cys/c.1560C>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225230608">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2530,225,0:127	1|1:0,75:75:99:2621,225,0:127	1|1:0,104:104:99:3444,312,0:127
1	225266966	.	C	G	9273.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3105559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3105559" target="_blank">rs3105559</a>;ExAC.Info.AC=22426;ExAC.Info.AN=25850;ExAC.Info.AF=0.868;ExAC.Info.AC_Het=2238;ExAC.Info.AC_Hom=9600;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Gtg;snpeff.Amino_Acid_Change=p.Leu828Val/c.2482C>G;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225266966">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1539,120,0:98	1|1:0,34:34:99:1323,102,0:98	1|1:0,34:34:99:1438,102,0:98
1	225268343	.	A	G	40754.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3128651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3128651" target="_blank">rs3128651</a>;ExAC.Info.AC=23727;ExAC.Info.AN=27370;ExAC.Info.AF=0.867;ExAC.Info.AC_Het=2368;ExAC.Info.AC_Hom=10079;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys1010Arg/c.3029A>G;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225268343">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,134:134:99:6009,409,0:127	1|1:0,146:146:99:6595,442,0:127	1|1:0,116:116:99:5269,355,0:127
1	225268346	.	G	A	40616.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=392;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3128652;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3128652" target="_blank">rs3128652</a>;ExAC.Info.AC=23727;ExAC.Info.AN=27378;ExAC.Info.AF=0.867;ExAC.Info.AC_Het=2388;ExAC.Info.AC_Hom=10196;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg1011Gln/c.3032G>A;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225268346">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:5976,406,0:127	1|1:0,145:145:99:6595,442,0:127	1|1:0,116:116:99:5245,352,0:127
1	225270409	.	A	T	10872.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3128655;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3128655" target="_blank">rs3128655</a>;ExAC.Info.AC=20989;ExAC.Info.AN=26278;ExAC.Info.AF=0.799;ExAC.Info.AC_Het=3445;ExAC.Info.AC_Hom=8173;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Tac;snpeff.Amino_Acid_Change=p.Asn1099Tyr/c.3295A>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225270409">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:1842,174,0:127	1|1:0,59:59:99:1980,177,0:127	1|1:0,44:44:99:1399,132,0:127
1	225311160	.	G	C	2684.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs16844054;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16844054" target="_blank">rs16844054</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4166+4164G>C;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225311160">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,12:27:99:416,0,518:66	1|0:10,27:37:99:939,0,275:66	0|0:22,0:22:66:0,66,846:66
1	225346975	.	C	G	5272.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1480101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1480101" target="_blank">rs1480101</a>;ExAC.Info.AC=3979;ExAC.Info.AN=28758;ExAC.Info.AF=0.138;ExAC.Info.AC_Het=3155;ExAC.Info.AC_Hom=355;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5223-56C>G;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225346975">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,35:85:99:919,0,1574:127	1|0:56,29:85:99:810,0,1793:127	0|0:97,0:97:99:0,292,3530:127
1	225373072	.	C	T	5041.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61851487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61851487" target="_blank">rs61851487</a>;ExAC.Info.AC=3383;ExAC.Info.AN=27442;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=2772;ExAC.Info.AC_Hom=260;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr1850Met/c.5549C>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225373072">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,36:81:99:1052,0,1255:127	1|0:58,47:105:99:1255,0,1513:127	0|0:103,0:103:99:0,309,3478:127
1	225439988	.	T	C	5526.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs630120;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=630120" target="_blank">rs630120</a>;ExAC.Info.AC=8237;ExAC.Info.AN=27252;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=4912;ExAC.Info.AC_Hom=1478;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6731-15T>C;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225439988">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,29:46:99:975,0,409:127	1|0:39,38:77:99:1147,0,954:127	0|0:71,0:71:99:0,213,2461:127
1	225506262	.	G	A	8357.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4653418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4653418" target="_blank">rs4653418</a>;ExAC.Info.AC=5640;ExAC.Info.AN=27528;ExAC.Info.AF=0.205;ExAC.Info.AC_Het=4030;ExAC.Info.AC_Hom=669;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8962-23G>A;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225506262">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,44:111:99:1181,0,2199:127	1|0:84,80:164:99:2144,0,2495:127	0|0:148,0:148:99:0,445,5200:127
1	225506294	.	A	G	4062.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10495237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10495237" target="_blank">rs10495237</a>;ExAC.Info.AC=2490;ExAC.Info.AN=27842;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=2081;ExAC.Info.AC_Hom=145;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn2991Asp/c.8971A>G;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225506294">View</a>	GT:AD:DP:GQ:PL:TP	0|0:138,0:138:99:0,415,4739:127	0|0:215,0:215:99:0,646,7407:127	0|1:97,76:173:99:2050,0,2760:127
1	225506427	.	A	G	3880.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12403278;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12403278" target="_blank">rs12403278</a>;ExAC.Info.AC=1321;ExAC.Info.AN=27980;ExAC.Info.AF=0.047;ExAC.Info.AC_Het=1056;ExAC.Info.AC_Hom=81;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9056+48A>G;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225506427">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,211,2469:127	0|1:48,57:105:99:1959,0,1379:127	0|0:71,0:71:99:0,214,2566:127
1	225511905	.	T	C	3710.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10799300;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10799300" target="_blank">rs10799300</a>;ExAC.Info.AC=6009;ExAC.Info.AN=26870;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=4272;ExAC.Info.AC_Hom=769;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9217-19T>C;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225511905">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,331,3705:127	0|1:69,62:131:99:1874,0,1885:127	0|0:113,0:113:99:0,340,3872:127
1	225512398	.	C	T	5292.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=550;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6668011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6668011" target="_blank">rs6668011</a>;ExAC.Info.AC=1289;ExAC.Info.AN=25016;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=1064;ExAC.Info.AC_Hom=88;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9349-41C>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225512398">View</a>	GT:AD:DP:GQ:PL:TP	0|0:150,0:150:99:0,457,5845:127	0|1:114,91:205:99:2665,0,4544:127	0|0:195,0:195:99:0,586,6663:127
1	225512402	.	GT	G	12512.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=581;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs75859387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75859387" target="_blank">rs75859387</a>;ExAC.Info.AC=5431;ExAC.Info.AN=26354;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=3998;ExAC.Info.AC_Hom=673;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9349-36delT;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=60;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225512402">View</a>	GT:AD:DP:GQ:PL:TP	0|1:93,64:157:99:1568,0,2550:127	1|0:98,119:217:99:3088,0,3668:127	0|0:207,0:207:99:0,622,6698:127
1	225528183	.	C	A	14334.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3856145;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3856145" target="_blank">rs3856145</a>;ExAC.Info.AC=11138;ExAC.Info.AN=23970;ExAC.Info.AF=0.465;ExAC.Info.AC_Het=5373;ExAC.Info.AC_Hom=2749;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaA;snpeff.Amino_Acid_Change=p.Asp3393Glu/c.10179C>A;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=66;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225528183">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,50:115:99:1415,0,1920:127	1|1:0,140:140:99:5090,421,0:127	0|0:134,0:134:99:0,402,4849:127
1	225528340	.	C	T	4586.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=462;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12184324;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12184324" target="_blank">rs12184324</a>;ExAC.Info.AC=1185;ExAC.Info.AN=24594;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=984;ExAC.Info.AC_Hom=82;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Ttt;snpeff.Amino_Acid_Change=p.Leu3446Phe/c.10336C>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=66;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225528340">View</a>	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,370,4450:127	0|1:94,83:177:99:2312,0,3012:127	0|0:162,0:162:99:0,487,5939:127
1	225533684	.	A	G	16952.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=481;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6667999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6667999" target="_blank">rs6667999</a>;ExAC.Info.AC=11882;ExAC.Info.AN=25926;ExAC.Info.AF=0.458;ExAC.Info.AC_Het=5681;ExAC.Info.AC_Hom=2806;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Gaa;snpeff.Amino_Acid_Change=p.Lys3474Glu/c.10420A>G;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=67;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225533684">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,58:117:99:1585,0,1777:127	1|1:1,181:182:99:6046,508,0:127	0|0:182,0:182:99:0,547,6448:127
1	225533731	.	T	A	5424.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=699;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12742757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12742757" target="_blank">rs12742757</a>;ExAC.Info.AC=2294;ExAC.Info.AN=26378;ExAC.Info.AF=0.087;ExAC.Info.AC_Het=1893;ExAC.Info.AC_Hom=137;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atA;snpeff.Amino_Acid_Change=p.Ile3489Ile/c.10467T>A;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=67;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225533731">View</a>	GT:AD:DP:GQ:PL:TP	0|0:173,0:173:99:0,520,5743:127	0|0:260,2:262:99:0,738,8556:127	0|1:156,108:264:99:2731,0,4353:127
1	225534219	.	T	C	11727.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7527925;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7527925" target="_blank">rs7527925</a>;ExAC.Info.AC=11157;ExAC.Info.AN=23846;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=5371;ExAC.Info.AC_Hom=2744;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTa/gCa;snpeff.Amino_Acid_Change=p.Val3627Ala/c.10880T>C;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=68;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225534219">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,63:110:99:1959,0,1127:127	1|1:0,115:115:99:3990,345,0:127	0|0:95,0:95:99:0,286,3211:127
1	225539363	.	G	A	2570.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12408617;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12408617" target="_blank">rs12408617</a>;ExAC.Info.AC=1177;ExAC.Info.AN=24514;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=976;ExAC.Info.AC_Hom=80;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Agt;snpeff.Amino_Acid_Change=p.Gly3678Ser/c.11032G>A;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=69;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225539363">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,298,3546:127	0|1:46,44:90:99:1304,0,1293:127	0|0:103,0:103:99:0,310,3712:127
1	225541649	.	A	G	814.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3915578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3915578" target="_blank">rs3915578</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11340+59A>G;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=70;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225541649">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,913:77	0|0:29,0:29:87:0,87,1060:77	0|1:10,12:22:99:426,0,282:77
1	225541899	.	C	T	2290.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3915579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3915579" target="_blank">rs3915579</a>;ExAC.Info.AC=1106;ExAC.Info.AN=17954;ExAC.Info.AF=0.062;ExAC.Info.AC_Het=794;ExAC.Info.AC_Hom=43;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11340+309C>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=70;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225541899">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1453:125	0|0:81,0:81:99:0,244,2900:125	0|1:22,36:58:99:1164,0,560:125
1	225552624	.	G	A	2263.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10495239;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10495239" target="_blank">rs10495239</a>;ExAC.Info.AC=9138;ExAC.Info.AN=24018;ExAC.Info.AF=0.380;ExAC.Info.AC_Het=5133;ExAC.Info.AC_Hom=1894;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11811+28G>A;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=73;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225552624">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,16:28:99:432,0,306:127	0/1:18,8:26:99:221,0,522:127	0/1:14,16:30:99:443,0,382:127
1	225552650	.	C	T	1694.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=65;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12563830;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12563830" target="_blank">rs12563830</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11811+54C>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=73;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225552650">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,9:16:99:225,0,180:127	0/1:17,7:24:99:194,0,535:127	0/1:12,13:25:99:367,0,382:127
1	225555512	.	C	T	13303.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs11578981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11578981" target="_blank">rs11578981</a>;ExAC.Info.AC=10366;ExAC.Info.AN=24426;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=5030;ExAC.Info.AC_Hom=2394;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala3939Ala/c.11817C>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=74;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225555512">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2515,219,0:127	1|1:0,69:69:99:2388,207,0:127	1|0:33,21:54:99:657,0,982:127
1	225555602	.	T	G	11519.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12737248;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12737248" target="_blank">rs12737248</a>;ExAC.Info.AC=10408;ExAC.Info.AN=23964;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=5085;ExAC.Info.AC_Hom=2457;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaT/aaG;snpeff.Amino_Acid_Change=p.Asn3969Lys/c.11907T>G;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=74;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225555602">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2440,198,0:127	1|1:0,52:52:99:1896,156,0:127	1|0:25,27:52:99:869,0,676:127
1	225562385	.	C	T	27020.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10915816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10915816" target="_blank">rs10915816</a>;ExAC.Info.AC=17734;ExAC.Info.AN=23768;ExAC.Info.AF=0.746;ExAC.Info.AC_Het=3650;ExAC.Info.AC_Hom=6645;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12040-5C>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=74;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12040C>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=74;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225562385">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:4129,355,0:127	1|1:0,131:131:99:4652,394,0:127	1|1:0,111:111:99:3962,334,0:127
1	225565015	.	T	C	17349.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3856154;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3856154" target="_blank">rs3856154</a>;ExAC.Info.AC=13475;ExAC.Info.AN=24318;ExAC.Info.AF=0.554;ExAC.Info.AC_Het=5088;ExAC.Info.AC_Hom=3850;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTt/cCt;snpeff.Amino_Acid_Change=p.Leu4096Pro/c.12287T>C;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=76;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225565015">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2368,198,0:127	1|1:0,101:101:99:3675,303,0:127	1|0:41,35:76:99:1037,0,1160:127
1	225565073	.	C	T	12964.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3856155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3856155" target="_blank">rs3856155</a>;ExAC.Info.AC=11911;ExAC.Info.AN=24184;ExAC.Info.AF=0.493;ExAC.Info.AC_Het=5163;ExAC.Info.AC_Hom=3145;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly4115Gly/c.12345C>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=76;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225565073">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1600,144,0:127	1|1:1,79:80:99:2799,200,0:127	1|0:30,33:63:99:976,0,935:127
1	225567848	.	G	GT	1821.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs200182107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200182107" target="_blank">rs200182107</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12411-12_12411-11insT;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=76;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225567848">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2145:127	0|0:91,0:91:99:0,273,2604:127	0|1:47,44:91:99:934,0,1083:127
1	225569241	.	T	G	12089.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs950210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=950210" target="_blank">rs950210</a>;ExAC.Info.AC=13063;ExAC.Info.AN=23720;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=5009;ExAC.Info.AC_Hom=3795;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tGt;snpeff.Amino_Acid_Change=p.Phe4244Cys/c.12731T>G;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=78;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225569241">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1546,128,0:127	1|1:0,66:66:99:2366,198,0:127	1|0:26,29:55:99:813,0,740:127
1	225576058	.	T	C	14261.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs6679430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6679430" target="_blank">rs6679430</a>;ExAC.Info.AC=13139;ExAC.Info.AN=24114;ExAC.Info.AF=0.545;ExAC.Info.AC_Het=4979;ExAC.Info.AC_Hom=3778;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12772-23T>C;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=78;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225576058">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2414,201,0:127	1|1:0,80:80:99:2842,240,0:127	1|0:29,26:55:99:785,0,871:127
1	225586274	.	G	T	7171.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41304131;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41304131" target="_blank">rs41304131</a>;ExAC.Info.AC=571;ExAC.Info.AN=28462;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=512;ExAC.Info.AC_Hom=14;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gTg;snpeff.Amino_Acid_Change=p.Gly4413Val/c.13238G>T;snpeff.Amino_Acid_length=4515;snpeff.Gene_Name=DNAH14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439375;snpeff.Exon_Rank=82;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH14" target="_blank">DNAH14</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAH14+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225586274">View</a>	GT:AD:DP:GQ:PL:TP	1|0:75,59:134:99:1526,0,2263:127	0|0:135,1:136:99:0,370,4950:127	1|0:74,53:127:99:1448,0,2294:127
1	225600351	.	TA	T	1562.29	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=250;MQ=70.04;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Pelger-Huet_anomaly|_169400_(3)|_HEM_skeletal_dysplasia|_215140_(3)|_Reynolds_syndrome|_613471_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.893-5delT;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.893delT;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000338179;SAVANT_GENE=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;SAVANT_INFO=-/27.3kb/14/3.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.893-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LBR+c.893-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225600351">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,14:57:99:128,0,733:127	0/1:79,28:107:99:324,0,1384:127	0/1:64,22:86:99:232,0,1202:127
1	225601647	.	C	T	25885.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Pelger-Huet_anomaly|_169400_(3)|_HEM_skeletal_dysplasia|_215140_(3)|_Reynolds_syndrome|_613471_(3);dbSNP139.ID=rs3766928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766928" target="_blank">rs3766928</a>;ExAC.Info.AC=11174;ExAC.Info.AN=19852;ExAC.Info.AF=0.563;ExAC.Info.AC_Het=3681;ExAC.Info.AC_Hom=2967;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.893-1300G>A;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp24Asp/c.72C>T;snpeff.Amino_Acid_length=115;snpeff.Gene_Name=AC092811.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366845;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338179:ENST00000366845;SAVANT_GENE=LBR:AC092811.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR:AC0928111" target="_blank">LBR:AC0928111</a>;SAVANT_INFO=-/27.3kb/14/3.8kb:+/1.6kb/1/1.6kb;SAVANT_LOC=In7/8:Ex1;SAVANT_HGVS=c.893-1300G>A:c.72C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LBR:AC0928111+c.893-1300G>A:c.72C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225601647">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3454,304,0:127	1|1:0,125:125:99:4342,376,0:127	1|1:0,89:89:99:3171,267,0:127
1	225607144	.	C	T	28106.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=425;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Pelger-Huet_anomaly|_169400_(3)|_HEM_skeletal_dysplasia|_215140_(3)|_Reynolds_syndrome|_613471_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230419" target="_blank">rs2230419</a>;ExAC.Info.AC=101448;ExAC.Info.AN=126700;ExAC.Info.AF=0.801;ExAC.Info.AC_Het=17752;ExAC.Info.AC_Hom=41678;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.461C>T;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.461C>T;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.461C>T;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.461C>T;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser154Asn/c.461G>A;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338179;SAVANT_GENE=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;SAVANT_INFO=-/27.3kb/14/3.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.461G>A_p.Ser154Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LBR+c.461G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225607144">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,158:158:99:5307,475,0:127	1|1:0,136:136:99:4717,409,0:127	1|1:0,131:131:99:4381,394,0:127
1	225609884	.	A	G	22768.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Pelger-Huet_anomaly|_169400_(3)|_HEM_skeletal_dysplasia|_215140_(3)|_Reynolds_syndrome|_613471_(3);dbSNP139.ID=rs1056608;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1056608" target="_blank">rs1056608</a>;ExAC.Info.AC=95148;ExAC.Info.AN=126700;ExAC.Info.AF=0.751;ExAC.Info.AC_Het=21415;ExAC.Info.AC_Hom=36847;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.261A>G;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.261A>G;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.261A>G;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.261A>G;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro87Pro/c.261T>C;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338179;SAVANT_GENE=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;SAVANT_INFO=-/27.3kb/14/3.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.261T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LBR+c.261T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225609884">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2918,228,0:127	1|1:0,100:100:99:3712,299,0:127	1|1:0,79:79:99:3011,238,0:127
1	225611661	.	C	T	55302.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=754;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Pelger-Huet_anomaly|_169400_(3)|_HEM_skeletal_dysplasia|_215140_(3)|_Reynolds_syndrome|_613471_(3);dbSNP139.ID=rs1056607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1056607" target="_blank">rs1056607</a>;ExAC.Info.AC=90258;ExAC.Info.AN=126704;ExAC.Info.AF=0.712;ExAC.Info.AC_Het=24923;ExAC.Info.AC_Hom=32656;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.117C>T;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tudor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.117C>T;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tudor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.117C>T;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.117C>T;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.117C>T;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.117C>T;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Nuclear];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.117C>T;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val39Val/c.117G>A;snpeff.Amino_Acid_length=615;snpeff.Gene_Name=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272163;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338179;SAVANT_GENE=LBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LBR" target="_blank">LBR</a>;SAVANT_INFO=-/27.3kb/14/3.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.117G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LBR+c.117G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225611661">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,219:219:99:7408,658,0:127	1|1:0,284:284:99:9666,854,0:127	1|1:0,251:251:99:8516,754,0:127
1	225685621	.	TAAG	T	4909.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs145776060;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145776060" target="_blank">rs145776060</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2417-110_2417-108delCTT;snpeff.Amino_Acid_length=817;snpeff.Gene_Name=ENAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENAH" target="_blank">ENAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284563;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366844;SAVANT_GENE=ENAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENAH" target="_blank">ENAH</a>;SAVANT_INFO=-/160.3kb/15/7.2kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1739-110_1739-108delCTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENAH+c.1739-110_1739-108delCTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225685621">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,18:18:54:790,54,0:53	1|1:0,25:25:76:1124,76,0:53	1|0:7,7:14:99:273,0,289:53
1	225685928	.	A	G	124.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=31;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1629896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1629896" target="_blank">rs1629896</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2416+121T>C;snpeff.Amino_Acid_length=817;snpeff.Gene_Name=ENAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENAH" target="_blank">ENAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284563;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366844;SAVANT_GENE=ENAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENAH" target="_blank">ENAH</a>;SAVANT_INFO=-/160.3kb/15/7.2kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1738+121T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENAH+c.1738+121T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225685928">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:27:0,27,358:26	0|0:16,0:16:48:0,48,603:26	0|1:3,3:6:81:81,0,103:26
1	225705445	.	G	A	6310.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72753031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72753031" target="_blank">rs72753031</a>;ExAC.Info.AC=44;ExAC.Info.AN=28008;ExAC.Info.AF=1.571e-03;ExAC.Info.AC_Het=33;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr369Tyr/c.1107C>T;snpeff.Amino_Acid_length=817;snpeff.Gene_Name=ENAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENAH" target="_blank">ENAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284563;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366844;SAVANT_GENE=ENAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENAH" target="_blank">ENAH</a>;SAVANT_INFO=-/160.3kb/15/7.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.803-437C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENAH+c.803-437C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225705445">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,32:79:99:804,0,1245:127	1|0:47,57:104:99:1478,0,1386:127	0|0:82,0:82:99:0,247,2971:127
1	225707271	.	GA	G	582.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=99;MQ=70.01;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.492-5delT;snpeff.Amino_Acid_length=817;snpeff.Gene_Name=ENAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENAH" target="_blank">ENAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284563;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.492delT;snpeff.Amino_Acid_length=817;snpeff.Gene_Name=ENAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENAH" target="_blank">ENAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284563;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366844;SAVANT_GENE=ENAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENAH" target="_blank">ENAH</a>;SAVANT_INFO=-/160.3kb/15/7.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.435-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENAH+c.435-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225707271">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,6:19:63:63,0,188:62	0/1:35,10:45:73:73,0,595:62	0/1:24,11:35:99:140,0,401:62
1	225965803	.	C	A	2284.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3738037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738037" target="_blank">rs3738037</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.72+89C>A;snpeff.Amino_Acid_length=86;snpeff.Gene_Name=SRP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRP9" target="_blank">SRP9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304786;SAVANT_GENE=SRP9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRP9" target="_blank">SRP9</a>;SAVANT_INFO=+/12.6kb/3/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.72+89C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRP9+c.72+89C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:225965803">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,226,2864:119	0|1:35,41:76:99:1161,0,1068:119	0|0:51,1:52:99:0,119,1882:119
1	226016397	.	G	A	3068.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=324;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbSNP139.ID=rs41266231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41266231" target="_blank">rs41266231</a>;ExAC.Info.AC=34546;ExAC.Info.AN=126648;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=24437;ExAC.Info.AC_Hom=4756;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-5-29G>A;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=EPHX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHX1" target="_blank">EPHX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366837;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366837;SAVANT_GENE=EPHX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHX1" target="_blank">EPHX1</a>;SAVANT_INFO=+/20.2kb/9/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-34G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHX1+c.-34G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226016397">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,276,3201:127	0|1:71,56:127:99:1553,0,2029:127	0|0:105,0:105:99:0,316,3738:127
1	226019633	.	T	C	26145.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=746;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1051740;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1051740" target="_blank">rs1051740</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Epoxide_hydrolase_deficiency|_association_with;hgmd_2014.2.OMIM_ID=132810;hgmd_2014.2.PubMed=7516776;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=7516776" target="_blank">7516776</a>;ExAC.Info.AC=39716;ExAC.Info.AN=126704;ExAC.Info.AF=0.313;ExAC.Info.AC_Het=26479;ExAC.Info.AC_Hom=6612;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000018078|RCV000018075|RCV000018076|RCV000018077;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Cac;snpeff.Amino_Acid_Change=p.Tyr113His/c.337T>C;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=EPHX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHX1" target="_blank">EPHX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366837;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366837;SAVANT_GENE=EPHX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHX1" target="_blank">EPHX1</a>;SAVANT_INFO=+/20.2kb/9/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.337T>C_p.Tyr113His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHX1+c.337T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226019633">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018078%20OR%20RCV000018075%20OR%20RCV000018076%20OR%20RCV000018077" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0/1:116,127:243:99:3711,0,2999:127	0/1:148,154:302:99:4696,0,3963:127	0/1:89,112:201:99:3414,0,3198:127
1	226019653	.	G	A	4328.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=695;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbSNP139.ID=rs1131873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131873" target="_blank">rs1131873</a>;ExAC.Info.AC=20250;ExAC.Info.AN=126704;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=16664;ExAC.Info.AC_Hom=1791;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys119Lys/c.357G>A;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=EPHX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHX1" target="_blank">EPHX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366837;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366837;SAVANT_GENE=EPHX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHX1" target="_blank">EPHX1</a>;SAVANT_INFO=+/20.2kb/9/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.357G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHX1+c.357G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226019653">View</a>	GT:AD:DP:GQ:PL:TP	0|0:230,0:230:99:0,694,9319:127	0|0:273,0:273:99:0,833,11067:127	0|1:112,80:192:99:2183,0,4316:127
1	226026406	.	A	G	8907.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2234922;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234922" target="_blank">rs2234922</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Preeclampsia|_association_with;hgmd_2014.2.OMIM_ID=132810;hgmd_2014.2.PubMed=12173035;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12173035" target="_blank">12173035</a>;ExAC.Info.AC=24700;ExAC.Info.AN=126704;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=19213;ExAC.Info.AC_Hom=2742;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000018079;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His139Arg/c.416A>G;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=EPHX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHX1" target="_blank">EPHX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366837;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366837;SAVANT_GENE=EPHX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHX1" target="_blank">EPHX1</a>;SAVANT_INFO=+/20.2kb/9/1.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.416A>G_p.His139Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHX1+c.416A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226026406">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018079" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:46,46:92:99:1345,0,1311:127	1|0:58,79:137:99:2399,0,1810:127	0|0:91,0:91:99:0,273,3393:127
1	226032229	.	C	T	17125.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=908;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbSNP139.ID=rs1051741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1051741" target="_blank">rs1051741</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=14024;ExAC.Info.AN=126704;ExAC.Info.AF=0.111;ExAC.Info.AC_Het=11987;ExAC.Info.AC_Hom=1016;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.43+1952G>A;snpeff.Gene_Name=RP11-285F7.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-285F72" target="_blank">RP11-285F72</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn357Asn/c.1071C>T;snpeff.Amino_Acid_length=455;snpeff.Gene_Name=EPHX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-285F72" target="_blank">RP11-285F72</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366837;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366837;SAVANT_GENE=EPHX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPHX1" target="_blank">EPHX1</a>;SAVANT_INFO=+/20.2kb/9/1.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1071C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPHX1+c.1071C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226032229">View</a>	GT:AD:DP:GQ:PL:TP	0|1:177,152:329:99:3897,0,4764:127	1|0:151,133:284:99:3808,0,4174:127	0|0:295,0:295:99:0,886,10141:127
1	226034909	.	G	A	5353.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbSNP139.ID=rs41441645;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41441645" target="_blank">rs41441645</a>;ExAC.Info.AC=2157;ExAC.Info.AN=126618;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=2029;ExAC.Info.AC_Hom=58;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr752Tyr/c.2256C>T;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366835;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366835;SAVANT_GENE=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;SAVANT_INFO=-/36.8kb/25/4.1kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2256C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM63A+c.2256C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226034909">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,29:65:99:766,0,1064:127	1|0:37,31:68:99:899,0,1168:127	0|0:81,0:81:99:0,243,2862:127
1	226036309	.	A	G	15561.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbSNP139.ID=rs360063;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=360063" target="_blank">rs360063</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2188-54T>C;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366835;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366835;SAVANT_GENE=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;SAVANT_INFO=-/36.8kb/25/4.1kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2188-54T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM63A+c.2188-54T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226036309">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,62:108:99:1860,0,1154:127	1|1:0,106:106:99:3617,319,0:127	0|1:54,47:101:99:1298,0,1587:127
1	226040526	.	T	C	2442.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbSNP139.ID=rs2292557;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292557" target="_blank">rs2292557</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1798-56A>G;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366835;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366835;SAVANT_GENE=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;SAVANT_INFO=-/36.8kb/25/4.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1798-56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM63A+c.1798-56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226040526">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,12:26:99:356,0,396:114	1|0:15,15:30:99:478,0,445:114	0|0:38,0:38:99:0,114,1190:114
1	226041489	.	G	A	2258.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbSNP139.ID=rs61753643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61753643" target="_blank">rs61753643</a>;ExAC.Info.AC=2283;ExAC.Info.AN=126562;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=1928;ExAC.Info.AC_Hom=28;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys546Cys/c.1638C>T;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366835;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366835;SAVANT_GENE=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;SAVANT_INFO=-/36.8kb/25/4.1kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.1638C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM63A+c.1638C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226041489">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,276,3109:127	0|1:33,38:71:99:1148,0,1013:127	0|0:79,0:79:99:0,237,2749:127
1	226048744	.	CA	C	3332.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbSNP139.ID=rs34700682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34700682" target="_blank">rs34700682</a>;ExAC.Info.AC=48275;ExAC.Info.AN=126424;ExAC.Info.AF=0.382;ExAC.Info.AC_Het=27776;ExAC.Info.AC_Hom=9325;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1086-48delT;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366835;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366835;SAVANT_GENE=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;SAVANT_INFO=-/36.8kb/25/4.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1086-48delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM63A+c.1086-48delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226048744">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,23:47:99:720,0,743:127	0|0:47,0:47:99:0,141,1731:127	1|0:20,19:39:99:595,0,618:127
1	226050609	.	C	A	3146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbSNP139.ID=rs10158985;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10158985" target="_blank">rs10158985</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.747-58G>T;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366835;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366835;SAVANT_GENE=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;SAVANT_INFO=-/36.8kb/25/4.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.747-58G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM63A+c.747-58G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226050609">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,0:111:99:0,333,3897:127	0|0:116,0:116:99:0,348,4003:127	0|1:57,59:116:99:1592,0,1690:127
1	226054333	.	G	A	1850.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs45492299;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45492299" target="_blank">rs45492299</a>;ExAC.Info.AC=22738;ExAC.Info.AN=126704;ExAC.Info.AF=0.179;ExAC.Info.AC_Het=17861;ExAC.Info.AC_Hom=2407;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.616G>A;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366835;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu206Phe/c.616C>T;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366835;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366835;SAVANT_GENE=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;SAVANT_INFO=-/36.8kb/25/4.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.616C>T_p.Leu206Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM63A+c.616C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226054333">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2378:127	0|1:37,36:73:99:944,0,1046:127	0|0:64,0:64:99:0,192,2171:127
1	226055595	.	G	A	4570.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbSNP139.ID=rs2292564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292564" target="_blank">rs2292564</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=42258;ExAC.Info.AN=126704;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=26545;ExAC.Info.AC_Hom=7817;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp169Asp/c.507C>T;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366835;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366835;SAVANT_GENE=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;SAVANT_INFO=-/36.8kb/25/4.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.507C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM63A+c.507C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226055595">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,10:18:99:280,0,251:116	1|1:0,45:45:99:1561,135,0:116	0|0:39,0:39:99:0,117,1374:116
1	226065191	.	G	C	7822.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3)|?Fetal_hydantoin_syndrome_(1)|_Diphenylhydantoin_toxicity_(1)|_Hypercholanemia|_familial|_607748_(3)|_{Preeclampsia|_susceptibility_to}|_189800_(3);dbSNP139.ID=rs72754986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72754986" target="_blank">rs72754986</a>;ExAC.Info.AC=9;ExAC.Info.AN=126700;ExAC.Info.AF=7.103e-05;ExAC.Info.AC_Het=9;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcG;snpeff.Amino_Acid_Change=p.Ser30Ser/c.90C>G;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366835;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366835;SAVANT_GENE=TMEM63A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM63A" target="_blank">TMEM63A</a>;SAVANT_INFO=-/36.8kb/25/4.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.90C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM63A+c.90C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226065191">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,56:102:99:1568,0,1253:127	0|0:136,0:136:99:0,409,4842:127	1|0:55,68:123:99:1718,0,1608:127
1	226074563	.	T	G	2839.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=117;MQ=69.41;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs360057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=360057" target="_blank">rs360057</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=42550;ExAC.Info.AN=126682;ExAC.Info.AF=0.336;ExAC.Info.AC_Het=27412;ExAC.Info.AC_Hom=7371;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=210;snpeff.Amino_Acid_Change=c.*210A>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=RP4-559A3.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-559A37" target="_blank">RP4-559A37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000432920;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.965T>G;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=LEFTY1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-559A37" target="_blank">RP4-559A37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272134;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gCc;snpeff.Amino_Acid_Change=p.Asp322Ala/c.965A>C;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=LEFTY1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-559A37" target="_blank">RP4-559A37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272134;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272134:ENST00000432920;SAVANT_GENE=LEFTY1:RP4-559A3.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEFTY1:RP4-559A37" target="_blank">LEFTY1:RP4-559A37</a>;SAVANT_INFO=-/2.9kb/4/1.6kb:-/37.6kb/8/1.6kb;SAVANT_LOC=Ex4:3UTR;SAVANT_HGVS=c.965A>C_p.Asp322Ala:c.*210A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEFTY1:RP4-559A37+c.965A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226074563">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,8:26:99:216,0,503:127	0|0:44,0:44:99:0,132,1587:127	1|0:17,30:47:99:968,0,435:127
1	226075410	.	GC	G	5565.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=87;MQ=69.91;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs57114136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57114136" target="_blank">rs57114136</a>;ExAC.Info.AC=30706;ExAC.Info.AN=111296;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=15196;ExAC.Info.AC_Hom=3087;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.823-73delG;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=RP4-559A3.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-559A37" target="_blank">RP4-559A37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000432920;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.498-73delG;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=LEFTY1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-559A37" target="_blank">RP4-559A37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272134;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000272134:ENST00000432920;SAVANT_GENE=LEFTY1:RP4-559A3.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEFTY1:RP4-559A37" target="_blank">LEFTY1:RP4-559A37</a>;SAVANT_INFO=-/2.9kb/4/1.6kb:-/37.6kb/8/1.6kb;SAVANT_LOC=In2/3:In6/7;SAVANT_HGVS=c.498-73delG:c.823-73delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEFTY1:RP4-559A37+c.498-73delG:c.823-73delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226075410">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:864,81,0:81	1|0:13,17:30:99:437,0,315:81	1|0:14,16:30:99:382,0,320:81
1	226075608	.	G	A	112.85	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=19;MQ=50.27;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12753531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12753531" target="_blank">rs12753531</a>;ExAC.Info.AC=15724;ExAC.Info.AN=95742;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=2842;ExAC.Info.AC_Hom=612;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val125Val/c.375C>T;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=LEFTY1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEFTY1" target="_blank">LEFTY1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272134;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro234Ser/c.700C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=RP4-559A3.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEFTY1" target="_blank">LEFTY1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000432920;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272134:ENST00000432920;SAVANT_GENE=LEFTY1:RP4-559A3.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEFTY1:RP4-559A37" target="_blank">LEFTY1:RP4-559A37</a>;SAVANT_INFO=-/2.9kb/4/1.6kb:-/37.6kb/8/1.6kb;SAVANT_LOC=Ex2:Ex6;SAVANT_HGVS=c.375C>T_p.=:c.700C>T_p.Pro234Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=SC:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEFTY1:RP4-559A37+c.375C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226075608">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:27:0,27,348:17	0|0:6,0:6:18:0,18,233:17	0|1:1,3:4:23:75,0,23:17
1	226127443	.	G	C	1725.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=61;MQ=69.38;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Left-right_axis_malformations_(3);dbSNP139.ID=rs74578461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74578461" target="_blank">rs74578461</a>;ExAC.Info.AC=32885;ExAC.Info.AN=116118;ExAC.Info.AF=0.283;ExAC.Info.AC_Het=19013;ExAC.Info.AC_Hom=4184;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126614;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.497+13C>G;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=LEFTY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEFTY2" target="_blank">LEFTY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366820;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366820;SAVANT_GENE=LEFTY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LEFTY2" target="_blank">LEFTY2</a>;SAVANT_INFO=-/4.9kb/4/2.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.497+13C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LEFTY2+c.497+13C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226127443">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126614" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:6,12:18:99:406,0,195:66	0|0:22,0:22:66:0,66,846:66	1|0:15,6:21:99:172,0,496:66
1	226252232	.	C	T	10046.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2036870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2036870" target="_blank">rs2036870</a>;ExAC.Info.AC=125392;ExAC.Info.AN=126068;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=582;ExAC.Info.AC_Hom=60094;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.128+52C>T;snpeff.Amino_Acid_length=136;snpeff.Gene_Name=H3F3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H3F3A" target="_blank">H3F3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366816;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366813;SAVANT_GENE=H3F3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H3F3A" target="_blank">H3F3A</a>;SAVANT_INFO=+/8.0kb/3/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.128+52C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=H3F3A+c.128+52C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226252232">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1367,132,0:120	1|1:0,56:56:99:1796,168,0:120	1|1:0,40:40:99:1416,120,0:120
1	226253316	.	G	T	12827.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1849032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1849032" target="_blank">rs1849032</a>;ExAC.Info.AC=125716;ExAC.Info.AN=126396;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=589;ExAC.Info.AC_Hom=58877;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.129-41G>T;snpeff.Amino_Acid_length=136;snpeff.Gene_Name=H3F3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H3F3A" target="_blank">H3F3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366816;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366813;SAVANT_GENE=H3F3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H3F3A" target="_blank">H3F3A</a>;SAVANT_INFO=+/8.0kb/3/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.129-41G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=H3F3A+c.129-41G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226253316">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1491,138,0:127	1|1:0,62:62:99:2170,186,0:127	1|1:0,68:68:99:2283,204,0:127
1	226352498	.	T	G	36594.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=505;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2306120;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306120" target="_blank">rs2306120</a>;ExAC.Info.AC=72701;ExAC.Info.AN=126700;ExAC.Info.AF=0.574;ExAC.Info.AC_Het=29640;ExAC.Info.AC_Hom=21480;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561T>G;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366812;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561T>G;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366812;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561T>G;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366812;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561T>G;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366812;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561T>G;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366812;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaA/gaC;snpeff.Amino_Acid_Change=p.Glu187Asp/c.561A>C;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366812;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366812;SAVANT_GENE=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;SAVANT_INFO=-/42.1kb/8/3.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.561A>C_p.Glu187Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACBD3+c.561A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226352498">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,141:141:99:4992,424,0:127	1|1:0,183:183:99:6719,550,0:127	1|0:100,81:181:99:2401,0,2768:127
1	226353521	.	T	A	10657.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=477;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2306121;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306121" target="_blank">rs2306121</a>;ExAC.Info.AC=52628;ExAC.Info.AN=126668;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=29970;ExAC.Info.AC_Hom=11160;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.428+39A>T;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366812;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366812;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366812;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429T>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366812;SAVANT_GENE=ACBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD3" target="_blank">ACBD3</a>;SAVANT_INFO=-/42.1kb/8/3.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.428+39A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACBD3+c.428+39A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226353521">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,68:138:99:1833,0,1915:127	1|0:92,91:183:99:2398,0,2509:127	0|0:156,0:156:99:0,468,5278:127
1	226474132	.	G	A	9720.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10799347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10799347" target="_blank">rs10799347</a>;ExAC.Info.AC=89505;ExAC.Info.AN=126668;ExAC.Info.AF=0.707;ExAC.Info.AC_Het=25704;ExAC.Info.AC_Hom=31798;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe213Phe/c.639C>T;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=LIN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN9" target="_blank">LIN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366808;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000328205;SAVANT_GENE=LIN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN9" target="_blank">LIN9</a>;SAVANT_INFO=-/78.6kb/15/3.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.474C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIN9+c.474C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226474132">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1607,150,0:127	1|1:0,55:55:99:1927,165,0:127	1|0:33,23:56:99:602,0,962:127
1	226488826	.	A	G	2984.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11577454;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11577454" target="_blank">rs11577454</a>;ExAC.Info.AC=34730;ExAC.Info.AN=126574;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=24554;ExAC.Info.AC_Hom=4832;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.277+48T>C;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=LIN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN9" target="_blank">LIN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366808;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000328205;SAVANT_GENE=LIN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN9" target="_blank">LIN9</a>;SAVANT_INFO=-/78.6kb/15/3.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.112+48T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIN9+c.112+48T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226488826">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,21:45:99:533,0,661:127	0/1:24,22:46:99:554,0,763:127	0/1:15,11:26:99:309,0,523:127
1	226497419	.	G	A	5884.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=567;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs79928746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79928746" target="_blank">rs79928746</a>;ExAC.Info.AC=2130;ExAC.Info.AN=17522;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=1669;ExAC.Info.AC_Hom=171;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro51Leu/c.152C>T;snpeff.Amino_Acid_length=613;snpeff.Gene_Name=LIN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN9" target="_blank">LIN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366808;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000328205;SAVANT_GENE=LIN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN9" target="_blank">LIN9</a>;SAVANT_INFO=-/78.6kb/15/3.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-531C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIN9+c.-531C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226497419">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,5008:127	0|0:239,0:239:99:0,718,8571:127	0|1:96,95:191:99:2961,0,2784:127
1	226550924	.	G	C	2328.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs747657;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=747657" target="_blank">rs747657</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2787-63C>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366794;SAVANT_GENE=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;SAVANT_INFO=-/47.4kb/23/4.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2787-63C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARP1+c.2787-63C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226550924">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1860:127	0|1:29,23:52:99:695,0,928:127	0|1:20,14:34:99:489,0,630:127
1	226551529	.	C	G	6036.03	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs752307;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=752307" target="_blank">rs752307</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2786+115G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787C>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787C>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787C>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787C>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787C>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787C>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787C>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787C>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2787C>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366794;SAVANT_GENE=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;SAVANT_INFO=-/47.4kb/23/4.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2786+115G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARP1+c.2786+115G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226551529">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,276,3165:127	0|1:66,53:119:99:1598,0,1935:127	0|1:43,45:88:99:1440,0,1264:127
1	226555302	.	A	G	34804.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=703;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1136410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1136410" target="_blank">rs1136410</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Prostate_cancer|_susceptibility|_association_with;hgmd_2014.2.OMIM_ID=173870;hgmd_2014.2.PubMed=15342424;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15342424" target="_blank">15342424</a>;ExAC.Info.AC=25640;ExAC.Info.AN=126704;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=18500;ExAC.Info.AC_Hom=3563;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2285A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2285A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_alpha-helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2285A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_alpha-helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2285A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_alpha-helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2285A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_alpha-helical];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2285A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val762Ala/c.2285T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366794;SAVANT_GENE=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;SAVANT_INFO=-/47.4kb/23/4.0kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2285T>C_p.Val762Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARP1+c.2285T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226555302">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,205:205:99:6811,615,0:127	1|0:143,112:255:99:3001,0,4002:127	1|0:115,128:243:99:3563,0,3268:127
1	226570767	.	G	A	5019.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230484" target="_blank">rs2230484</a>;ExAC.Info.AC=492;ExAC.Info.AN=126704;ExAC.Info.AF=3.883e-03;ExAC.Info.AC_Het=489;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[region_of_interest:Automodification_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1129G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Automodification_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1129G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Automodification_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1129G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Automodification_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1129G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro377Ser/c.1129C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366794;SAVANT_GENE=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;SAVANT_INFO=-/47.4kb/23/4.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1129C>T_p.Pro377Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARP1+c.1129C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226570767">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,52:99:99:1309,0,1312:127	0|0:84,0:84:99:0,253,3152:127	1|0:40,44:84:99:1297,0,1186:127
1	226570840	.	T	C	8156.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1805415;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805415" target="_blank">rs1805415</a>;ExAC.Info.AC=100506;ExAC.Info.AN=126704;ExAC.Info.AF=0.793;ExAC.Info.AC_Het=18950;ExAC.Info.AC_Hom=40760;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys352Lys/c.1056A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366794;SAVANT_GENE=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;SAVANT_INFO=-/47.4kb/23/4.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1056A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARP1+c.1056A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226570840">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,384,4256:127	0|1:64,69:133:99:2013,0,1795:127	0|1:61,68:129:99:2085,0,1702:127
1	226573364	.	A	G	16461.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1805414;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805414" target="_blank">rs1805414</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Colorectal_adenoma|_association_with;hgmd_2014.2.OMIM_ID=173870;hgmd_2014.2.PubMed=17283177;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17283177" target="_blank">17283177</a>;ExAC.Info.AC=53548;ExAC.Info.AN=126704;ExAC.Info.AF=0.423;ExAC.Info.AC_Het=28346;ExAC.Info.AC_Hom=12583;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala284Ala/c.852T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366794;SAVANT_GENE=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;SAVANT_INFO=-/47.4kb/23/4.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.852T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARP1+c.852T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226573364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2473,219,0:127	1|0:54,70:124:99:1949,0,1530:127	1|0:50,41:91:99:1143,0,1629:127
1	226576270	.	A	G	22885.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=450;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2255403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2255403" target="_blank">rs2255403</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.717+87T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.718A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.718A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.718A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.718A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.718A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.718A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.718A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.718A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.718A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.718A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366794;SAVANT_GENE=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;SAVANT_INFO=-/47.4kb/23/4.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.717+87T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARP1+c.717+87T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226576270">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4496,386,0:127	1|0:98,79:177:99:2137,0,2778:127	1|0:71,73:144:99:2047,0,1844:127
1	226578099	.	T	C	11728.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1805403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805403" target="_blank">rs1805403</a>;ExAC.Info.AC=102269;ExAC.Info.AN=126704;ExAC.Info.AF=0.807;ExAC.Info.AC_Het=18947;ExAC.Info.AC_Hom=41617;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.617+12A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366794;SAVANT_GENE=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;SAVANT_INFO=-/47.4kb/23/4.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.617+12A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARP1+c.617+12A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226578099">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1854,150,0:127	1|1:0,60:60:99:2313,180,0:127	1|0:21,19:40:99:577,0,630:127
1	226589709	.	C	T	9132.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2666428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2666428" target="_blank">rs2666428</a>;ExAC.Info.AC=18428;ExAC.Info.AN=72570;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=3335;ExAC.Info.AC_Hom=1389;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.286+206G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366794;SAVANT_GENE=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;SAVANT_INFO=-/47.4kb/23/4.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.286+206G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARP1+c.286+206G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226589709">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1815,165,0:127	1|0:37,34:71:99:1035,0,1163:127	1|0:43,25:68:99:724,0,1324:127
1	226589958	.	G	A	27297.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=533;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1805404;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805404" target="_blank">rs1805404</a>;ExAC.Info.AC=26485;ExAC.Info.AN=126704;ExAC.Info.AF=0.209;ExAC.Info.AC_Het=19145;ExAC.Info.AC_Hom=3664;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:PARP-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:PARP-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.243G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp81Asp/c.243C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366794;SAVANT_GENE=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;SAVANT_INFO=-/47.4kb/23/4.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.243C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARP1+c.243C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226589958">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:4484,408,0:127	1|0:90,105:195:99:2967,0,2701:127	1|0:100,102:202:99:2719,0,2859:127
1	226595647	.	C	G	34731.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=609;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs907187;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=907187" target="_blank">rs907187</a>;ExAC.Info.AC=25498;ExAC.Info.AN=126430;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=18150;ExAC.Info.AC_Hom=3169;snpeff.Effect=TF_binding_site_variant[MA0024.1:E2F1];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=17;snpeff.Amino_Acid_Change=c.-17G>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366794;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366794;SAVANT_GENE=PARP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARP1" target="_blank">PARP1</a>;SAVANT_INFO=-/47.4kb/23/4.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-17G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARP1+c.-17G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226595647">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,161:163:99:5360,404,0:127	1|0:125,119:244:99:3542,0,3708:127	1|0:100,102:202:99:2939,0,2891:127
1	226825341	.	G	A	3556.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2236604;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236604" target="_blank">rs2236604</a>;ExAC.Info.AC=18968;ExAC.Info.AN=126676;ExAC.Info.AF=0.150;ExAC.Info.AC_Het=15246;ExAC.Info.AC_Hom=1501;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2625+39C>T;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272117;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429204;SAVANT_GENE=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;SAVANT_INFO=-/107.5kb/8/6.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2625+39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITPKB+c.2625+39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226825341">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,22:46:99:588,0,634:127	0|0:59,0:59:99:0,176,1970:127	1|0:25,22:47:99:591,0,719:127
1	226923146	.	GT	G	993.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11337528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11337528" target="_blank">rs11337528</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1932+81delA;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272117;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000429204;SAVANT_GENE=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;SAVANT_INFO=-/107.5kb/8/6.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.1932+81delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITPKB+c.1932+81delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226923146">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1296:92	0|1:22,17:39:99:520,0,707:92	0|0:31,0:31:93:0,93,1161:92
1	226923264	.	G	A	1282.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs708775;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=708775" target="_blank">rs708775</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=35195;ExAC.Info.AN=126458;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=23971;ExAC.Info.AC_Hom=4848;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala632Ala/c.1896C>T;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272117;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429204;SAVANT_GENE=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;SAVANT_INFO=-/107.5kb/8/6.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1896C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITPKB+c.1896C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226923264">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1772:127	0|1:34,23:57:99:660,0,988:127	0|0:48,0:48:99:0,144,1749:127
1	226923505	.	G	T	18144.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs708776;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=708776" target="_blank">rs708776</a>;ExAC.Info.AC=122156;ExAC.Info.AN=126688;ExAC.Info.AF=0.964;ExAC.Info.AC_Het=4258;ExAC.Info.AC_Hom=58674;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cAg;snpeff.Amino_Acid_Change=p.Pro552Gln/c.1655C>A;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272117;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429204;SAVANT_GENE=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;SAVANT_INFO=-/107.5kb/8/6.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1655C>A_p.Pro552Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITPKB+c.1655C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226923505">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,54:109:99:1521,0,1637:127	0|1:51,75:126:99:2403,0,1451:127	1|1:0,112:112:99:4052,337,0:127
1	226923938	.	A	C	7784.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6667260;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6667260" target="_blank">rs6667260</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=64662;ExAC.Info.AN=124978;ExAC.Info.AF=0.517;ExAC.Info.AC_Het=27105;ExAC.Info.AC_Hom=16396;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Gcc;snpeff.Amino_Acid_Change=p.Ser408Ala/c.1222T>G;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272117;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429204;SAVANT_GENE=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;SAVANT_INFO=-/107.5kb/8/6.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1222T>G_p.Ser408Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITPKB+c.1222T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226923938">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,26:72:99:886,0,1233:127	0/1:49,41:90:99:1232,0,1401:127	0/1:39,35:74:99:1061,0,1166:127
1	226924382	.	C	T	1482.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72754588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72754588" target="_blank">rs72754588</a>;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Agt;snpeff.Amino_Acid_Change=p.Gly260Ser/c.778G>A;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272117;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429204;SAVANT_GENE=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;SAVANT_INFO=-/107.5kb/8/6.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.778G>A_p.Gly260Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITPKB+c.778G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226924382">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,208,2644:127	0|0:82,0:82:99:0,247,3073:127	0|1:38,27:65:99:760,0,1158:127
1	226924642	.	C	T	7667.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3754415;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3754415" target="_blank">rs3754415</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=25744;ExAC.Info.AN=126414;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=19657;ExAC.Info.AC_Hom=2902;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg173His/c.518G>A;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272117;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429204;SAVANT_GENE=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;SAVANT_INFO=-/107.5kb/8/6.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.518G>A_p.Arg173His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITPKB+c.518G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226924642">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,63:116:99:1683,0,1539:127	0|0:125,0:125:99:0,375,4488:127	1|0:52,47:99:99:1314,0,1635:127
1	226924875	.	ACTGCCGCTG	A	1463.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=139;MQ=70.11;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs147889095;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147889095" target="_blank">rs147889095</a>;ExAC.Info.AC=28348;ExAC.Info.AN=115992;ExAC.Info.AF=0.244;ExAC.Info.AC_Het=17791;ExAC.Info.AC_Hom=3113;snpeff.Effect=disruptive_inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=agcagcggcagt/agt;snpeff.Amino_Acid_Change=p.Ser92_Ser95del/c.276_284delCAGCGGCAG;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272117;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000429204;SAVANT_GENE=ITPKB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPKB" target="_blank">ITPKB</a>;SAVANT_INFO=-/107.5kb/8/6.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.276_284del9_p.Gly94_Ser96del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITPKB+c.276_284del9+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:226924875">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,2046:127	0|1:27,20:47:99:755,0,1068:127	0|0:46,0:46:99:0,137,2029:127
1	227069677	.	T	C	17938.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Alzheimer_disease-4|_606889_(3)|_Cardiomyopathy|_dilated|_1V|_613697_(3);dbSNP139.ID=rs11405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11405" target="_blank">rs11405</a>;ExAC.Info.AC=96200;ExAC.Info.AN=126702;ExAC.Info.AF=0.759;ExAC.Info.AC_Het=22617;ExAC.Info.AC_Hom=36733;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala56Ala/c.168T>C;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366782;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366783;SAVANT_GENE=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;SAVANT_INFO=+/25.5kb/13/2.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.69T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSEN2+c.69T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227069677">View</a>	GT:AD:DP:GQ:PL:TP	1|0:78,66:144:99:1846,0,2170:127	0|1:76,84:160:99:2453,0,2114:127	1|1:0,123:123:99:4095,369,0:127
1	227069737	.	C	T	12045.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alzheimer_disease-4|_606889_(3)|_Cardiomyopathy|_dilated|_1V|_613697_(3);dbSNP139.ID=rs6759;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6759" target="_blank">rs6759</a>;ExAC.Info.AC=63062;ExAC.Info.AN=126684;ExAC.Info.AF=0.498;ExAC.Info.AC_Het=30712;ExAC.Info.AC_Hom=15970;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn76Asn/c.228C>T;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366782;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366783;SAVANT_GENE=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;SAVANT_INFO=+/25.5kb/13/2.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.129C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSEN2+c.129C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227069737">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,62:130:99:1580,0,2177:127	0/1:64,75:139:99:2125,0,2033:127	0/1:61,51:112:99:1528,0,2017:127
1	227071364	.	G	A	27647.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1007;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alzheimer_disease-4|_606889_(3)|_Cardiomyopathy|_dilated|_1V|_613697_(3);dbSNP139.ID=rs1295643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1295643" target="_blank">rs1295643</a>;ExAC.Info.AC=60775;ExAC.Info.AN=126092;ExAC.Info.AF=0.482;ExAC.Info.AC_Het=25388;ExAC.Info.AC_Hom=11946;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.241-42G>A;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366782;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366783;SAVANT_GENE=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;SAVANT_INFO=+/25.5kb/13/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.142-42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSEN2+c.142-42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227071364">View</a>	GT:AD:DP:GQ:PL:TP	0/1:189,135:324:99:3433,0,5375:127	0/1:181,187:368:99:5142,0,4964:127	0/1:158,157:315:99:4217,0,4381:127
1	227071377	.	T	C	38323.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=961;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Alzheimer_disease-4|_606889_(3)|_Cardiomyopathy|_dilated|_1V|_613697_(3);dbSNP139.ID=rs1295644;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1295644" target="_blank">rs1295644</a>;ExAC.Info.AC=89573;ExAC.Info.AN=126410;ExAC.Info.AF=0.709;ExAC.Info.AC_Het=22548;ExAC.Info.AC_Hom=29120;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.241-29T>C;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366782;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366783;SAVANT_GENE=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;SAVANT_INFO=+/25.5kb/13/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.142-29T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSEN2+c.142-29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227071377">View</a>	GT:AD:DP:GQ:PL:TP	1|0:182,129:311:99:3155,0,5168:127	0|1:174,187:361:99:5086,0,4861:127	1|1:0,289:289:99:9886,868,0:127
1	227071525	.	C	T	15562.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=592;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alzheimer_disease-4|_606889_(3)|_Cardiomyopathy|_dilated|_1V|_613697_(3);dbSNP139.ID=rs1046240;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1046240" target="_blank">rs1046240</a>;ExAC.Info.AC=63185;ExAC.Info.AN=126704;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=30855;ExAC.Info.AC_Hom=16147;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His120His/c.360C>T;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366782;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366783;SAVANT_GENE=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;SAVANT_INFO=+/25.5kb/13/2.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.261C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSEN2+c.261C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227071525">View</a>	GT:AD:DP:GQ:PL:TP	0/1:98,90:188:99:2339,0,2683:127	0/1:115,93:208:99:2518,0,3223:127	0/1:107,89:196:99:2239,0,3076:127
1	227073410	.	G	C	14181.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Alzheimer_disease-4|_606889_(3)|_Cardiomyopathy|_dilated|_1V|_613697_(3);dbSNP139.ID=rs2236910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236910" target="_blank">rs2236910</a>;ExAC.Info.AC=96117;ExAC.Info.AN=126694;ExAC.Info.AF=0.759;ExAC.Info.AC_Het=22596;ExAC.Info.AC_Hom=36489;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.597+30G>C;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366782;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366783;SAVANT_GENE=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;SAVANT_INFO=+/25.5kb/13/2.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.498+30G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSEN2+c.498+30G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227073410">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,39:83:99:1261,0,1424:127	0|1:55,54:109:99:1699,0,1739:127	1|1:0,81:81:99:2944,243,0:127
1	227078955	.	T	C	10628.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Alzheimer_disease-4|_606889_(3)|_Cardiomyopathy|_dilated|_1V|_613697_(3);dbSNP139.ID=rs2802267;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2802267" target="_blank">rs2802267</a>;ExAC.Info.AC=95443;ExAC.Info.AN=126610;ExAC.Info.AF=0.754;ExAC.Info.AC_Het=22032;ExAC.Info.AC_Hom=34750;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.986-24T>C;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366782;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366783;SAVANT_GENE=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;SAVANT_INFO=+/25.5kb/13/2.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.887-24T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSEN2+c.887-24T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227078955">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,42:89:99:1192,0,1230:127	0|1:58,37:95:99:999,0,1554:127	1|1:0,70:70:99:2474,210,0:127
1	227081850	.	G	A	5664.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Alzheimer_disease-4|_606889_(3)|_Cardiomyopathy|_dilated|_1V|_613697_(3);dbSNP139.ID=rs2855562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2855562" target="_blank">rs2855562</a>;ExAC.Info.AC=72394;ExAC.Info.AN=126688;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=30240;ExAC.Info.AC_Hom=20747;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1290+24G>A;snpeff.Amino_Acid_length=481;snpeff.Gene_Name=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366782;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366783;SAVANT_GENE=PSEN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSEN2" target="_blank">PSEN2</a>;SAVANT_INFO=+/25.5kb/13/2.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1191+24G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSEN2+c.1191+24G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227081850">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,35:64:99:949,0,879:127	0/1:39,34:73:99:833,0,1155:127	0/1:28,27:55:99:622,0,830:127
1	227085462	.	T	C	6698.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=854;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1800672;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800672" target="_blank">rs1800672</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=63625;snpeff.Amino_Acid_Change=c.-2546T>C;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-63625T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.-63625T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227085462">View</a>	GT:AD:DP:GQ:PL:TP	0|0:274,0:274:99:0,823,9321:127	0|0:339,1:340:99:0,991,11844:127	0|1:126,114:240:99:3368,0,3559:127
1	227149203	.	G	A	13040.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs11549708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11549708" target="_blank">rs11549708</a>;ExAC.Info.AC=20724;ExAC.Info.AN=126662;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=16135;ExAC.Info.AC_Hom=2221;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116234;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala39Ala/c.117G>A;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.117G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.117G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227149203">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116234" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:76,37:113:99:986,0,2224:127	0|0:120,1:121:99:0,320,4044:127	1|1:0,128:128:99:4006,384,0:127
1	227153336	.	G	A	764.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs72760475;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72760475" target="_blank">rs72760475</a>;ExAC.Info.AC=1;ExAC.Info.AN=126684;ExAC.Info.AF=7.894e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.589-36G>A;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.589-36G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.589-36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227153336">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1854:122	0|1:40,16:56:99:401,0,1196:122	0|0:41,0:41:99:0,123,1330:122
1	227170297	.	C	T	1996.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs72760489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72760489" target="_blank">rs72760489</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.854-82C>T;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.854-82C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.854-82C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227170297">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,114,2075:86	0|1:30,33:63:99:1017,0,1907:86	0|0:29,0:29:87:0,87,1182:86
1	227170298	.	A	G	6554.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs2297412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297412" target="_blank">rs2297412</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.854-81A>G;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.854-81A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.854-81A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227170298">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,14:39:99:325,0,725:93	0|1:30,33:63:99:1296,0,856:93	1|1:0,31:31:93:1136,93,0:93
1	227170543	.	C	G	2096.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs2297413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297413" target="_blank">rs2297413</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.940-52C>G;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.940-52C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.940-52C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227170543">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,226,2826:127	0|1:48,37:85:99:1067,0,1578:127	0|0:52,0:52:99:0,156,1963:127
1	227171958	.	G	C	11287.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs7530213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7530213" target="_blank">rs7530213</a>;ExAC.Info.AC=30552;ExAC.Info.AN=126580;ExAC.Info.AF=0.241;ExAC.Info.AC_Het=21848;ExAC.Info.AC_Hom=4047;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1398+22G>C;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1398+22G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.1398+22G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227171958">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,69:113:99:1867,0,1315:127	0|0:130,0:130:99:0,391,4649:127	1|1:0,89:89:99:3166,267,0:127
1	227172290	.	C	T	41999.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=1061;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs12593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12593" target="_blank">rs12593</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=44693;ExAC.Info.AN=126704;ExAC.Info.AF=0.353;ExAC.Info.AC_Het=27056;ExAC.Info.AC_Hom=8811;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116235;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe480Phe/c.1440C>T;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1440C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.1440C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227172290">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116235" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:169,178:347:99:4763,0,4685:127	0|1:209,187:396:99:5063,0,5905:127	1|1:0,318:318:99:10672,955,0:127
1	227172903	.	G	A	9312.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=178;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs2297415;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297415" target="_blank">rs2297415</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1573-52G>A;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1573-52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.1573-52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227172903">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,28:56:99:925,0,849:127	0|1:28,39:67:99:1334,0,800:127	1|1:0,55:55:99:2061,165,0:127
1	227172935	.	C	G	12452.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=265;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs2297416;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297416" target="_blank">rs2297416</a>;ExAC.Info.AC=45807;ExAC.Info.AN=126672;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=27299;ExAC.Info.AC_Hom=9070;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1573-20C>G;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1573-20C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.1573-20C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227172935">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,40:81:99:1090,0,1214:127	0|1:45,59:104:99:1598,0,1358:127	1|1:0,80:80:99:2751,240,0:127
1	227174122	.	C	G	14254.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs41303131;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41303131" target="_blank">rs41303131</a>;ExAC.Info.AC=25300;ExAC.Info.AN=126654;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=18837;ExAC.Info.AC_Hom=3122;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1660-32C>G;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1660-32C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.1660-32C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227174122">View</a>	GT:AD:DP:GQ:PL:TP	1|0:75,66:141:99:1989,0,2936:127	0|0:166,1:167:99:0,477,6650:127	1|1:0,113:113:99:4206,339,0:127
1	227174145	.	T	C	27584.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=529;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs7552783;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7552783" target="_blank">rs7552783</a>;ExAC.Info.AC=52459;ExAC.Info.AN=126692;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=29180;ExAC.Info.AC_Hom=11553;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1660-9T>C;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1660-9T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.1660-9T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227174145">View</a>	GT:AD:DP:GQ:PL:TP	1|0:95,81:176:99:2973,0,2680:127	0|1:106,105:211:99:3235,0,3124:127	1|1:0,142:142:99:6193,436,0:127
1	227174210	.	T	C	33143.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=770;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_4|_612016_(3);dbSNP139.ID=rs3738725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738725" target="_blank">rs3738725</a>;ExAC.Info.AC=51316;ExAC.Info.AN=126702;ExAC.Info.AF=0.405;ExAC.Info.AC_Het=28941;ExAC.Info.AC_Hom=11171;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116236;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser572Ser/c.1716T>C;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366779;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366779;SAVANT_GENE=ADCK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCK3" target="_blank">ADCK3</a>;SAVANT_INFO=+/90.0kb/20/5.5kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.1716T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADCK3+c.1716T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227174210">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116236" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:124,136:260:99:3807,0,3531:127	0|1:145,156:301:99:4333,0,4439:127	1|1:0,209:209:99:7449,631,0:127
1	227182033	.	G	A	17848.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2802269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2802269" target="_blank">rs2802269</a>;ExAC.Info.AC=110641;ExAC.Info.AN=125924;ExAC.Info.AF=0.879;ExAC.Info.AC_Het=10113;ExAC.Info.AC_Hom=39118;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCt/gTt;snpeff.Amino_Acid_Change=p.Ala1761Val/c.5282C>T;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.5096C>T_p.Ala1699Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.5096C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227182033">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2512,237,0:127	1|1:0,77:77:99:2645,231,0:127	1|1:0,73:73:99:2382,219,0:127
1	227182575	.	A	G	15872.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1045247;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1045247" target="_blank">rs1045247</a>;ExAC.Info.AC=101064;ExAC.Info.AN=126704;ExAC.Info.AF=0.798;ExAC.Info.AC_Het=19563;ExAC.Info.AC_Hom=40725;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser1721Ser/c.5163T>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.4977T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.4977T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227182575">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2117,195,0:127	1|1:0,71:71:99:2365,213,0:127	1|1:0,58:58:99:1917,174,0:127
1	227204557	.	T	C	3108.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17600747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17600747" target="_blank">rs17600747</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4634+71A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.4634+71A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.4634+71A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227204557">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,250,2917:127	0|1:55,46:101:99:1573,0,1652:127	0|0:73,0:73:99:0,220,2715:127
1	227210888	.	A	T	7344.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11578479;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11578479" target="_blank">rs11578479</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4510+76T>A;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=In31/32;SAVANT_HGVS=c.4510+76T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.4510+76T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227210888">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,23:52:99:578,0,768:127	0|1:46,34:80:99:835,0,1195:127	1|1:0,58:58:99:1940,174,0:127
1	227216662	.	T	C	7006.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=613;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1929861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1929861" target="_blank">rs1929861</a>;ExAC.Info.AC=54708;ExAC.Info.AN=126702;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=30376;ExAC.Info.AC_Hom=12124;snpeff.Effect=sequence_feature[domain:CNH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4023T>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CNH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4023T>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CNH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4023T>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CNH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4023T>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CNH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4023T>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys1341Lys/c.4023A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.4023A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.4023A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227216662">View</a>	GT:AD:DP:GQ:PL:TP	0|0:206,0:206:99:0,619,7184:127	0|1:115,115:230:99:3522,0,3378:127	0|0:177,0:177:99:0,532,6321:127
1	227216775	.	C	T	5858.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=621;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1929860;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1929860" target="_blank">rs1929860</a>;ExAC.Info.AC=40365;ExAC.Info.AN=126698;ExAC.Info.AF=0.319;ExAC.Info.AC_Het=26861;ExAC.Info.AC_Hom=6691;snpeff.Effect=sequence_feature[domain:CNH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3910C>T;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CNH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3910C>T;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CNH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3910C>T;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CNH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3910C>T;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CNH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3910C>T;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val1304Ile/c.3910G>A;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.3910G>A_p.Val1304Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.3910G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227216775">View</a>	GT:AD:DP:GQ:PL:TP	0|0:197,0:197:99:0,592,6971:127	0|1:132,104:236:99:2948,0,3813:127	0|0:188,0:188:99:0,565,6627:127
1	227221123	.	G	A	2862.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11582863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11582863" target="_blank">rs11582863</a>;ExAC.Info.AC=21990;ExAC.Info.AN=126700;ExAC.Info.AF=0.174;ExAC.Info.AC_Het=17989;ExAC.Info.AC_Hom=1930;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3372-7C>T;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3372G>A;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3372G>A;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3372G>A;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3372G>A;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3372C>T;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3372-7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.3372-7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227221123">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,2917:127	0|1:39,49:88:99:1450,0,1152:127	0|0:64,0:64:99:0,192,2382:127
1	227222515	.	G	GACAA	29069.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=278;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs113874316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113874316" target="_blank">rs113874316</a>;ExAC.Info.AC=126391;ExAC.Info.AN=126660;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=247;ExAC.Info.AC_Hom=62755;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3232-20_3232-21insTTGT;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3232_3233insACAA;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3232_3233insACAA;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3232_3233insACAA;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3232_3233insACAA;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.3232-24_3232-21dupTTGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.3232-24_3232-21dupTTGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227222515">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:3839,260,0:127	1|1:0,87:87:99:4056,272,0:127	1|1:0,105:105:99:4645,314,0:127
1	227239562	.	G	C	3096.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34111989;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34111989" target="_blank">rs34111989</a>;ExAC.Info.AC=20528;ExAC.Info.AN=118978;ExAC.Info.AF=0.173;ExAC.Info.AC_Het=16757;ExAC.Info.AC_Hom=1838;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2905-3851C>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2905-3851C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.2905-3851C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227239562">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,351,3898:127	0|1:74,60:134:99:1567,0,2146:127	0|0:124,0:124:99:0,373,4311:127
1	227330759	.	A	G	22914.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12139502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12139502" target="_blank">rs12139502</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1144-34T>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1144-34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.1144-34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227330759">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2837,246,0:127	1|1:0,111:111:99:4005,334,0:127	1|1:0,96:96:99:3275,288,0:127
1	227330783	.	G	C	7281.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs58442036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58442036" target="_blank">rs58442036</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1144-58C>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144G>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144G>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144G>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1144-58C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.1144-58C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227330783">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,23:64:99:662,0,1233:127	0|0:83,0:83:99:0,250,3100:127	1|1:0,73:73:99:2534,219,0:127
1	227387361	.	A	G	14645.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3768434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3768434" target="_blank">rs3768434</a>;ExAC.Info.AC=101479;ExAC.Info.AN=126668;ExAC.Info.AF=0.801;ExAC.Info.AC_Het=18858;ExAC.Info.AC_Hom=41166;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.355-8T>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355T>C;snpeff.Amino_Acid_length=1781;snpeff.Gene_Name=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334218;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366769;SAVANT_GENE=CDC42BPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC42BPA" target="_blank">CDC42BPA</a>;SAVANT_INFO=-/328.6kb/36/10.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.355-8T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC42BPA+c.355-8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227387361">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2094,180,0:127	1|1:0,75:75:99:2678,225,0:127	1|1:0,65:65:99:2365,195,0:127
1	227834233	.	TC	T	5821.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=645;MQ=70.04;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs78467777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78467777" target="_blank">rs78467777</a>;ExAC.Info.AC=56124;ExAC.Info.AN=125740;ExAC.Info.AF=0.446;ExAC.Info.AC_Het=31226;ExAC.Info.AC_Hom=11958;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.124-11delC;snpeff.Amino_Acid_length=580;snpeff.Gene_Name=ZNF678;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF678" target="_blank">ZNF678</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397097;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000397097;SAVANT_GENE=ZNF678;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF678" target="_blank">ZNF678</a>;SAVANT_INFO=+/92.3kb/4/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.124-3delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF678+c.124-3delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227834233">View</a>	GT:AD:DP:GQ:PL:TP	0|0:196,2:198:99:0,534,5562:127	0|1:129,124:253:99:2934,0,2960:127	0|0:191,3:194:99:0,493,5418:127
1	227920665	.	A	G	1470.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41270159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41270159" target="_blank">rs41270159</a>;ExAC.Info.AC=3954;ExAC.Info.AN=126618;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3732;ExAC.Info.AC_Hom=87;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SNAP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1024A>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=JMJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366758;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1024A>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=JMJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366758;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1024A>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=JMJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366758;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1024A>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=JMJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366758;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe342Leu/c.1024T>C;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=JMJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366758;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366758;SAVANT_GENE=JMJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD4" target="_blank">JMJD4</a>;SAVANT_INFO=-/4.2kb/6/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1024T>C_p.Phe342Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD4+c.1024T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227920665">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2386:127	0|1:35,26:61:99:754,0,1057:127	0|0:65,0:65:99:0,195,2194:127
1	227922918	.	A	C	3604.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2295994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295994" target="_blank">rs2295994</a>;ExAC.Info.AC=41806;ExAC.Info.AN=118118;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=17343;ExAC.Info.AC_Hom=5066;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=193;snpeff.Amino_Acid_Change=c.-193A>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SNAP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366759;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaG;snpeff.Amino_Acid_Change=p.Asp65Glu/c.195T>G;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=JMJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366758;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366758:ENST00000366759;SAVANT_GENE=JMJD4:SNAP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD4:SNAP47" target="_blank">JMJD4:SNAP47</a>;SAVANT_INFO=-/4.2kb/6/2.6kb:+/46.2kb/5/2.4kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.195T>G_p.Asp65Glu:c.-193A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD4:SNAP47+c.195T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227922918">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,3018:127	0|1:52,58:110:99:1821,0,1534:127	0|0:90,0:90:99:0,270,3012:127
1	227923081	.	G	A	33057.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7419238;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7419238" target="_blank">rs7419238</a>;ExAC.Info.AC=116133;ExAC.Info.AN=116188;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=18;ExAC.Info.AC_Hom=49157;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=30;snpeff.Amino_Acid_Change=c.-30G>A;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SNAP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366759;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala11Val/c.32C>T;snpeff.Amino_Acid_length=463;snpeff.Gene_Name=JMJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366758;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366758:ENST00000366759;SAVANT_GENE=JMJD4:SNAP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD4:SNAP47" target="_blank">JMJD4:SNAP47</a>;SAVANT_INFO=-/4.2kb/6/2.6kb:+/46.2kb/5/2.4kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.32C>T_p.Ala11Val:c.-30G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD4:SNAP47+c.32C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227923081">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,141:141:99:4422,423,0:127	1|1:0,155:155:99:5024,465,0:127	1|1:1,126:127:99:4075,370,0:127
1	227935355	.	T	C	1736.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2236360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236360" target="_blank">rs2236360</a>;ExAC.Info.AC=77862;ExAC.Info.AN=124926;ExAC.Info.AF=0.623;ExAC.Info.AC_Het=25163;ExAC.Info.AC_Hom=23572;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.91-38T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SNAP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366759;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366759;SAVANT_GENE=SNAP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;SAVANT_INFO=+/46.2kb/5/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.91-38T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNAP47+c.91-38T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227935355">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1698:127	0|1:42,30:72:99:887,0,1147:127	0|0:45,0:45:99:0,135,1571:127
1	227935444	.	A	G	3082.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2236359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236359" target="_blank">rs2236359</a>;ExAC.Info.AC=50737;ExAC.Info.AN=126696;ExAC.Info.AF=0.400;ExAC.Info.AC_Het=30247;ExAC.Info.AC_Hom=10172;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg48Gly/c.142A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=SNAP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366759;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366759;SAVANT_GENE=SNAP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNAP47" target="_blank">SNAP47</a>;SAVANT_INFO=+/46.2kb/5/2.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.142A>G_p.Arg48Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNAP47+c.142A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:227935444">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,213,2405:127	0|1:61,59:120:99:1560,0,1791:127	0|0:74,0:74:99:0,222,2688:127
1	228003967	.	G	A	1966.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12121588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12121588" target="_blank">rs12121588</a>;ExAC.Info.AC=26469;ExAC.Info.AN=126634;ExAC.Info.AF=0.209;ExAC.Info.AC_Het=20500;ExAC.Info.AC_Hom=2873;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.311+14G>A;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312G>A;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312G>A;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312G>A;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312G>A;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366757;SAVANT_GENE=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;SAVANT_INFO=+/30.8kb/5/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.311+14G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRSS38+c.311+14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228003967">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1150:95	0|1:27,35:62:99:1002,0,781:95	0|0:43,0:43:99:0,129,1486:95
1	228033197	.	A	G	5719.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9426581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9426581" target="_blank">rs9426581</a>;ExAC.Info.AC=104426;ExAC.Info.AN=126676;ExAC.Info.AF=0.824;ExAC.Info.AC_Het=17241;ExAC.Info.AC_Hom=42862;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met204Val/c.610A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366757;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366757;SAVANT_GENE=PRSS38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRSS38" target="_blank">PRSS38</a>;SAVANT_INFO=+/30.8kb/5/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.610A>G_p.Met204Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRSS38+c.610A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228033197">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,20:38:99:662,0,486:127	0|0:58,0:58:99:0,174,2069:127	1|1:0,46:46:99:1646,138,0:127
1	228113163	.	A	G	9101.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3795768;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795768" target="_blank">rs3795768</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=74099;ExAC.Info.AN=117442;ExAC.Info.AF=0.631;ExAC.Info.AC_Het=14434;ExAC.Info.AC_Hom=14060;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala51Ala/c.153T>C;snpeff.Amino_Acid_length=365;snpeff.Gene_Name=WNT9A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WNT9A" target="_blank">WNT9A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272164;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272164;SAVANT_GENE=WNT9A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WNT9A" target="_blank">WNT9A</a>;SAVANT_INFO=-/29.2kb/4/4.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.153T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WNT9A+c.153T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228113163">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1057,96,0:83	1|1:0,42:42:99:1446,126,0:83	1|1:0,28:28:84:1037,84,0:83
1	228129197	.	T	C	4435.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs631768;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=631768" target="_blank">rs631768</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.95+6297A>G;snpeff.Amino_Acid_length=365;snpeff.Gene_Name=WNT9A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WNT9A" target="_blank">WNT9A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272164;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272164;SAVANT_GENE=WNT9A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WNT9A" target="_blank">WNT9A</a>;SAVANT_INFO=-/29.2kb/4/4.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.95+6297A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WNT9A+c.95+6297A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228129197">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,15:37:99:409,0,698:41	0|1:37,19:56:99:502,0,950:41	1|1:1,25:26:41:882,41,0:41
1	228284991	.	C	T	4715.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2070960;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070960" target="_blank">rs2070960</a>;ExAC.Info.AC=10982;ExAC.Info.AN=126676;ExAC.Info.AF=0.087;ExAC.Info.AC_Het=9765;ExAC.Info.AC_Hom=570;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.28C>T;snpeff.Gene_Name=MIR3620;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR3620" target="_blank">MIR3620</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000584469;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.148+28C>T;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=ARF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR3620" target="_blank">MIR3620</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540651;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541182;SAVANT_GENE=ARF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARF1" target="_blank">ARF1</a>;SAVANT_INFO=+/16.1kb/5/2.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.148+28C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARF1+c.148+28C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228284991">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,37:61:99:1034,0,670:127	0|0:78,0:78:99:0,237,2951:127	1|0:33,30:63:99:896,0,1098:127
1	228289976	.	A	G	2706.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2295995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295995" target="_blank">rs2295995</a>;ExAC.Info.AC=12544;ExAC.Info.AN=123686;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=9574;ExAC.Info.AC_Hom=695;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.447+35T>C;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=C1orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf35" target="_blank">C1orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000272139;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000272139;SAVANT_GENE=C1orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf35" target="_blank">C1orf35</a>;SAVANT_INFO=-/2.7kb/8/1.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.447+35T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf35+c.447+35T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228289976">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,13:31:99:382,0,521:127	0|0:48,0:48:99:0,144,1638:127	1|0:15,15:30:99:441,0,445:127
1	228336425	.	G	A	2890.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72756242;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72756242" target="_blank">rs72756242</a>;ExAC.Info.AC=207;ExAC.Info.AN=126384;ExAC.Info.AF=1.638e-03;ExAC.Info.AC_Het=297;ExAC.Info.AC_Hom=4;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly245Arg/c.733G>A;snpeff.Amino_Acid_length=271;snpeff.Gene_Name=GUK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GUK1" target="_blank">GUK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435153;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000366728;SAVANT_GENE=GUK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GUK1" target="_blank">GUK1</a>;SAVANT_INFO=+/8.7kb/7/0.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.598G>A_p.Gly200Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GUK1+c.598G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228336425">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,287,3089:127	0|1:37,48:85:99:1464,0,990:127	0|0:78,0:78:99:0,234,2680:127
1	228352160	.	T	C	12268.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4348717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4348717" target="_blank">rs4348717</a>;ExAC.Info.AC=20983;ExAC.Info.AN=21234;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=104;ExAC.Info.AC_Hom=8605;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.-10A>G;snpeff.Amino_Acid_length=110;snpeff.Gene_Name=IBA57-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IBA57-AS1" target="_blank">IBA57-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366713;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366713;SAVANT_GENE=C1orf148;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf148" target="_blank">C1orf148</a>;SAVANT_INFO=-/1.4kb/2/0.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-10A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf148+c.-10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228352160">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1170,102,0:127	1|1:0,70:70:99:2409,210,0:127	1|1:0,48:48:99:1612,144,0:127
1	228353651	.	G	C	2274.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Multiple_mitochondrial_dysfunctions_syndrome_3|_615330_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55873785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55873785" target="_blank">rs55873785</a>;ExAC.Info.AC=18110;ExAC.Info.AN=73282;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=3080;ExAC.Info.AC_Hom=1336;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gCa;snpeff.Amino_Acid_Change=p.Gly45Ala/c.134G>C;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=IBA57;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IBA57" target="_blank">IBA57</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366711;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366711;SAVANT_GENE=IBA57;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IBA57" target="_blank">IBA57</a>;SAVANT_INFO=+/16.4kb/3/7.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.134G>C_p.Gly45Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IBA57+c.134G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228353651">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,11:24:99:392,0,466:84	1|0:21,11:32:99:366,0,720:84	0|0:28,0:28:84:0,84,1046:84
1	228362682	.	G	A	7014.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=?Multiple_mitochondrial_dysfunctions_syndrome_3|_615330_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2298014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298014" target="_blank">rs2298014</a>;ExAC.Info.AC=33636;ExAC.Info.AN=124052;ExAC.Info.AF=0.271;ExAC.Info.AC_Het=20910;ExAC.Info.AC_Hom=5033;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly211Ser/c.631G>A;snpeff.Amino_Acid_length=356;snpeff.Gene_Name=IBA57;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IBA57" target="_blank">IBA57</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366711;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366711;SAVANT_GENE=IBA57;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IBA57" target="_blank">IBA57</a>;SAVANT_INFO=+/16.4kb/3/7.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.631G>A_p.Gly211Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IBA57+c.631G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228362682">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,37:56:99:942,0,455:93	0|1:32,37:69:99:980,0,923:93	1|1:0,31:31:93:1072,93,0:93
1	228399766	.	T	C	4444.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs55971985;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55971985" target="_blank">rs55971985</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=52835;ExAC.Info.AN=95994;ExAC.Info.AF=0.550;ExAC.Info.AC_Het=4511;ExAC.Info.AC_Hom=4831;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.239+1357A>G;snpeff.Amino_Acid_length=113;snpeff.Gene_Name=C1orf145;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf145" target="_blank">C1orf145</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295012;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala94Ala/c.282T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf145" target="_blank">C1orf145</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295012:ENST00000422127;SAVANT_GENE=C1orf145:OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf145:OBSCN" target="_blank">C1orf145:OBSCN</a>;SAVANT_INFO=-/10.2kb/2/0.9kb:+/170.7kb/105/24.0kb;SAVANT_LOC=In1/2:Ex2;SAVANT_HGVS=c.239+1357A>G:c.282T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf145:OBSCN+c.239+1357A>G:c.282T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228399766">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,27:46:99:771,0,543:127	1|0:36,40:76:99:1020,0,1013:127	0|0:81,0:81:99:0,243,2722:127
1	228400646	.	T	C	3176.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3121192;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3121192" target="_blank">rs3121192</a>;ExAC.Info.AC=14902;ExAC.Info.AN=28252;ExAC.Info.AF=0.527;ExAC.Info.AC_Het=2584;ExAC.Info.AC_Hom=3067;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.988+174T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.239+477A>G;snpeff.Amino_Acid_length=113;snpeff.Gene_Name=C1orf145;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295012;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295012:ENST00000422127;SAVANT_GENE=C1orf145:OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf145:OBSCN" target="_blank">C1orf145:OBSCN</a>;SAVANT_INFO=-/10.2kb/2/0.9kb:+/170.7kb/105/24.0kb;SAVANT_LOC=In1/2:In2/3;SAVANT_HGVS=c.239+477A>G:c.988+174T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf145:OBSCN+c.239+477A>G:c.988+174T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228400646">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,18:30:99:698,0,558:60	1|0:17,15:32:99:550,0,864:60	0|0:20,0:20:60:0,60,1351:60
1	228400653	.	A	T	2779.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3121191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3121191" target="_blank">rs3121191</a>;ExAC.Info.AC=14789;ExAC.Info.AN=27980;ExAC.Info.AF=0.529;ExAC.Info.AC_Het=2252;ExAC.Info.AC_Hom=2711;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.988+181A>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.239+470T>A;snpeff.Amino_Acid_length=113;snpeff.Gene_Name=C1orf145;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295012;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295012:ENST00000422127;SAVANT_GENE=C1orf145:OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf145:OBSCN" target="_blank">C1orf145:OBSCN</a>;SAVANT_INFO=-/10.2kb/2/0.9kb:+/170.7kb/105/24.0kb;SAVANT_LOC=In1/2:In2/3;SAVANT_HGVS=c.239+470T>A:c.988+181A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf145:OBSCN+c.239+470T>A:c.988+181A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228400653">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,16:25:99:631,0,500:51	1|0:15,12:27:99:459,0,810:51	0|0:17,0:17:51:0,51,1244:51
1	228402047	.	A	G	9023.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1620111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1620111" target="_blank">rs1620111</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=81379;ExAC.Info.AN=124926;ExAC.Info.AF=0.651;ExAC.Info.AC_Het=27095;ExAC.Info.AC_Hom=26599;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu477Leu/c.1431A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1431A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.1431A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228402047">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,44:105:99:1499,0,1804:127	1|0:63,57:120:99:1872,0,1836:127	0|0:120,0:120:99:0,361,4300:127
1	228402121	.	A	G	5200.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1771487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1771487" target="_blank">rs1771487</a>;ExAC.Info.AC=81351;ExAC.Info.AN=124990;ExAC.Info.AF=0.651;ExAC.Info.AC_Het=27111;ExAC.Info.AC_Hom=26612;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln502Arg/c.1505A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1505A>G_p.Gln502Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.1505A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228402121">View</a>	GT:AD:DP:GQ:PL:TP	0|1:66,34:100:99:859,0,1954:127	1|0:35,35:70:99:1114,0,1041:127	0|0:96,0:96:99:0,289,3508:127
1	228402508	.	C	T	15486.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2776853;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2776853" target="_blank">rs2776853</a>;ExAC.Info.AC=42814;ExAC.Info.AN=124948;ExAC.Info.AF=0.343;ExAC.Info.AC_Het=26944;ExAC.Info.AC_Hom=7356;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu513Leu/c.1537C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1537C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.1537C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228402508">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,55:110:99:1553,0,1727:127	0|1:61,72:133:99:2164,0,1837:127	1|1:0,77:77:99:2790,232,0:127
1	228404198	.	G	A	2210.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61501937;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61501937" target="_blank">rs61501937</a>;ExAC.Info.AC=3420;ExAC.Info.AN=113818;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=1167;ExAC.Info.AC_Hom=45;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala724Ala/c.2172G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.2172G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.2172G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228404198">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,1988:127	0|1:32,39:71:99:1124,0,865:127	0|0:54,0:54:99:0,162,1954:127
1	228404668	.	T	C	8191.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3795777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795777" target="_blank">rs3795777</a>;ExAC.Info.AC=44289;ExAC.Info.AN=124230;ExAC.Info.AF=0.357;ExAC.Info.AC_Het=22599;ExAC.Info.AC_Hom=6567;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2378-46T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2378-46T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.2378-46T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228404668">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,21:49:99:564,0,787:127	0|1:20,23:43:99:775,0,578:127	1|1:0,62:62:99:2159,186,0:127
1	228407010	.	C	T	18466.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=388;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1757158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1757158" target="_blank">rs1757158</a>;ExAC.Info.AC=42119;ExAC.Info.AN=124794;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=24388;ExAC.Info.AC_Hom=6640;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2654-15C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.2653+2021C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.2653+2021C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228407010">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,62:121:99:1796,0,1705:127	0|1:80,78:158:99:2202,0,2383:127	1|1:0,109:109:99:3873,327,0:127
1	228407260	.	G	A	13854.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1771484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1771484" target="_blank">rs1771484</a>;ExAC.Info.AC=41830;ExAC.Info.AN=125790;ExAC.Info.AF=0.333;ExAC.Info.AC_Het=24617;ExAC.Info.AC_Hom=6284;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu963Glu/c.2889G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.2653+2271G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.2653+2271G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228407260">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,38:107:99:1018,0,2052:127	0|1:71,52:123:99:1600,0,2167:127	1|1:1,84:85:99:2979,216,0:127
1	228412106	.	T	C	7199.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1771482;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1771482" target="_blank">rs1771482</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2930-54T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.2654-54T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.2654-54T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228412106">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,26:52:99:826,0,744:127	0|1:30,22:52:99:693,0,962:127	1|1:0,50:50:99:1896,150,0:127
1	228412308	.	G	A	31192.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=692;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1757152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1757152" target="_blank">rs1757152</a>;ExAC.Info.AC=50109;ExAC.Info.AN=125406;ExAC.Info.AF=0.400;ExAC.Info.AC_Het=29086;ExAC.Info.AC_Hom=10420;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser1026Ser/c.3078G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2802G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.2802G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228412308">View</a>	GT:AD:DP:GQ:PL:TP	1|0:113,114:227:99:3268,0,3322:127	0|1:128,138:266:99:4111,0,3698:127	1|1:0,199:199:99:6839,598,0:127
1	228431095	.	A	G	18960.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1771455;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1771455" target="_blank">rs1771455</a>;ExAC.Info.AC=81338;ExAC.Info.AN=125300;ExAC.Info.AF=0.649;ExAC.Info.AC_Het=27680;ExAC.Info.AC_Hom=26593;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr1139Thr/c.3417A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.3141A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.3141A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228431095">View</a>	GT:AD:DP:GQ:PL:TP	1|0:75,72:147:99:2111,0,2268:127	0|1:83,77:160:99:2261,0,2543:127	1|1:0,117:117:99:4118,352,0:127
1	228431930	.	C	T	19341.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10916293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10916293" target="_blank">rs10916293</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3482-67C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.3206-67C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.3206-67C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228431930">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,57:114:99:1620,0,1607:127	0|1:96,91:187:99:2457,0,2727:127	1|1:0,122:122:99:4385,367,0:127
1	228433217	.	A	G	26533.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=571;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2487384;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2487384" target="_blank">rs2487384</a>;ExAC.Info.AC=81385;ExAC.Info.AN=125198;ExAC.Info.AF=0.650;ExAC.Info.AC_Het=27639;ExAC.Info.AC_Hom=26793;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr1287Thr/c.3861A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.3585A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.3585A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228433217">View</a>	GT:AD:DP:GQ:PL:TP	1|0:84,92:176:99:2910,0,2752:127	0|1:124,102:226:99:3056,0,4236:127	1|1:1,168:169:99:6352,468,0:127
1	228434395	.	T	C	31556.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=712;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7517088;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7517088" target="_blank">rs7517088</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=81410;ExAC.Info.AN=125250;ExAC.Info.AF=0.650;ExAC.Info.AC_Het=27690;ExAC.Info.AC_Hom=26744;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala1400Ala/c.4200T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.3924T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.3924T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228434395">View</a>	GT:AD:DP:GQ:PL:TP	1|0:129,97:226:99:2745,0,3844:127	0|1:135,150:285:99:4364,0,4142:127	1|1:0,201:201:99:7082,604,0:127
1	228434467	.	T	C	29520.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=637;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7517108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7517108" target="_blank">rs7517108</a>;ExAC.Info.AC=83705;ExAC.Info.AN=125228;ExAC.Info.AF=0.668;ExAC.Info.AC_Het=26617;ExAC.Info.AC_Hom=28406;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala1424Ala/c.4272T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.3996T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.3996T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228434467">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,98:185:99:2684,0,2460:127	0|1:116,149:265:99:3981,0,3256:127	1|1:0,187:187:99:6360,562,0:127
1	228444297	.	T	G	13612.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7532141;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7532141" target="_blank">rs7532141</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4586-55T>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.4310-55T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.4310-55T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228444297">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,45:88:99:1384,0,1190:127	0|1:62,51:113:99:1704,0,1690:127	1|1:1,77:78:99:2888,196,0:127
1	228444318	.	T	G	17831.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7532144;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7532144" target="_blank">rs7532144</a>;ExAC.Info.AC=81353;ExAC.Info.AN=125296;ExAC.Info.AF=0.649;ExAC.Info.AC_Het=27698;ExAC.Info.AC_Hom=26626;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4586-34T>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.4310-34T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.4310-34T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228444318">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,60:120:99:1680,0,1581:127	0|1:72,66:138:99:2034,0,1992:127	1|1:0,123:123:99:4123,369,0:127
1	228444565	.	T	A	46685.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=609;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7532342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7532342" target="_blank">rs7532342</a>;ExAC.Info.AC=124911;ExAC.Info.AN=124912;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=62257;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gAc;snpeff.Amino_Acid_Change=p.Val1600Asp/c.4799T>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.4523T>A_p.Val1508Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.4523T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228444565">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,172:172:99:5420,517,0:127	1|1:0,235:235:99:7579,703,0:127	1|1:0,202:202:99:6644,606,0:127
1	228447513	.	T	G	16902.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7525075;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7525075" target="_blank">rs7525075</a>;ExAC.Info.AC=44327;ExAC.Info.AN=125246;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=27541;ExAC.Info.AC_Hom=8072;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5137+36T>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.4585+2886T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.4585+2886T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228447513">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,45:85:99:1718,0,2180:127	0|1:56,52:108:99:2051,0,3012:127	1|1:0,81:81:99:3476,244,0:127
1	228452016	.	G	C	12371.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=559;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs185523702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=185523702" target="_blank">rs185523702</a>;ExAC.Info.AC=1729;ExAC.Info.AN=125622;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1684;ExAC.Info.AC_Hom=20;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu1779Asp/c.5337G>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.4785G>C_p.Glu1595Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.4785G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228452016">View</a>	GT:AD:DP:GQ:PL:TP	1|0:78,88:166:99:2544,0,2424:127	0|0:217,1:218:99:0,618,7858:127	1|0:88,87:175:99:2467,0,2603:127
1	228456147	.	T	C	27368.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=646;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs878388;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=878388" target="_blank">rs878388</a>;ExAC.Info.AC=80646;ExAC.Info.AN=121614;ExAC.Info.AF=0.663;ExAC.Info.AC_Het=16677;ExAC.Info.AC_Hom=18560;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5414-84T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.4862-84T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.4862-84T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228456147">View</a>	GT:AD:DP:GQ:PL:TP	1|0:102,95:197:99:2681,0,2840:127	0|1:141,130:271:99:3723,0,4084:127	1|1:0,178:178:99:5909,535,0:127
1	228461129	.	A	G	30215.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=681;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1188724;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1188724" target="_blank">rs1188724</a>;ExAC.Info.AC=86370;ExAC.Info.AN=125248;ExAC.Info.AF=0.690;ExAC.Info.AC_Het=25500;ExAC.Info.AC_Hom=29948;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.970T>C;snpeff.Gene_Name=RP5-1139B12.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1139B122" target="_blank">RP5-1139B122</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602517;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His2048Arg/c.6143A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1139B122" target="_blank">RP5-1139B122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.5138-342A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.5138-342A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228461129">View</a>	GT:AD:DP:GQ:PL:TP	1|0:99,102:201:99:2896,0,2856:127	0|1:140,136:276:99:3867,0,3961:127	1|1:2,202:204:99:7083,542,0:127
1	228461408	.	A	AG	16234.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11398292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11398292" target="_blank">rs11398292</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.690_691insC;snpeff.Gene_Name=RP5-1139B12.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1139B122" target="_blank">RP5-1139B122</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602517;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6263-62_6263-61insG;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1139B122" target="_blank">RP5-1139B122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.5138-60dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.5138-60dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228461408">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:1986,179,0:127	1|1:0,78:78:99:2582,236,0:127	1|1:0,52:52:99:1780,159,0:127
1	228461757	.	G	A	4010.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=206;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs474735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=474735" target="_blank">rs474735</a>;ExAC.Info.AC=23973;ExAC.Info.AN=124512;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=17977;ExAC.Info.AC_Hom=2506;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.342C>T;snpeff.Gene_Name=RP5-1139B12.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1139B122" target="_blank">RP5-1139B122</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602517;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6541+8G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1139B122" target="_blank">RP5-1139B122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6542G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1139B122" target="_blank">RP5-1139B122</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.5416+8G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.5416+8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228461757">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2302:127	0|1:41,39:80:99:1224,0,1084:127	0|1:32,28:60:99:801,0,909:127
1	228464248	.	T	G	11485.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1188721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1188721" target="_blank">rs1188721</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=85654;ExAC.Info.AN=124314;ExAC.Info.AF=0.689;ExAC.Info.AC_Het=24839;ExAC.Info.AC_Hom=29131;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaG;snpeff.Amino_Acid_Change=p.Asp2481Glu/c.7443T>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.6318T>G_p.Asp2106Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.6318T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228464248">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,28:58:99:854,0,829:127	0|1:30,42:72:99:1331,0,869:127	1|1:0,79:79:99:2821,237,0:127
1	228464276	.	T	C	13311.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1188722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1188722" target="_blank">rs1188722</a>;ExAC.Info.AC=84213;ExAC.Info.AN=124152;ExAC.Info.AF=0.678;ExAC.Info.AC_Het=25238;ExAC.Info.AC_Hom=27822;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe2491Leu/c.7471T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.6346T>C_p.Phe2116Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.6346T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228464276">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,33:74:99:867,0,1134:127	0|1:41,53:94:99:1590,0,1072:127	1|1:0,90:90:99:3249,270,0:127
1	228464303	.	G	T	6236.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75280352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75280352" target="_blank">rs75280352</a>;ExAC.Info.AC=2247;ExAC.Info.AN=124552;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2102;ExAC.Info.AC_Hom=26;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Tct;snpeff.Amino_Acid_Change=p.Ala2500Ser/c.7498G>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.6373G>T_p.Ala2125Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.6373G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228464303">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,35:81:99:789,0,1327:127	0|0:115,0:115:99:0,345,3958:127	1|0:45,53:98:99:1392,0,1304:127
1	228464842	.	C	G	15109.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs936885;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=936885" target="_blank">rs936885</a>;ExAC.Info.AC=75723;ExAC.Info.AN=117664;ExAC.Info.AF=0.644;ExAC.Info.AC_Het=10123;ExAC.Info.AC_Hom=11136;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7726-19C>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.6601-19C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.6601-19C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228464842">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,45:82:99:1417,0,1072:127	0|1:44,51:95:99:1704,0,1323:127	1|1:0,86:86:99:3447,259,0:127
1	228465346	.	A	G	17695.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs493945;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=493945" target="_blank">rs493945</a>;ExAC.Info.AC=38664;ExAC.Info.AN=120556;ExAC.Info.AF=0.321;ExAC.Info.AC_Het=12780;ExAC.Info.AC_Hom=3663;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn2674Asp/c.8020A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.6755-109A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.6755-109A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228465346">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,47:85:99:1732,0,1350:127	0|1:46,60:106:99:2244,0,1625:127	1|1:0,78:78:99:3492,244,0:127
1	228465370	.	T	G	16370.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs867599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=867599" target="_blank">rs867599</a>;ExAC.Info.AC=83031;ExAC.Info.AN=122888;ExAC.Info.AF=0.676;ExAC.Info.AC_Het=20097;ExAC.Info.AC_Hom=22871;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8041+3T>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8042T>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.6755-85T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.6755-85T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228465370">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,40:71:99:1548,0,1246:127	0|1:37,53:90:99:2123,0,1313:127	1|1:0,75:75:99:3337,235,0:127
1	228465403	.	G	T	4419.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs13376694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13376694" target="_blank">rs13376694</a>;ExAC.Info.AC=9826;ExAC.Info.AN=124454;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=7815;ExAC.Info.AC_Hom=809;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8041+36G>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.6755-52G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.6755-52G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228465403">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,29:56:99:838,0,882:127	0|0:57,0:57:99:0,170,2155:127	1|0:29,31:60:99:863,0,935:127
1	228468566	.	A	G	2020.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4653934;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4653934" target="_blank">rs4653934</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9484+69A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.8197+69A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.8197+69A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228468566">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,6:16:99:191,0,319:36	0|1:13,11:24:99:305,0,403:36	1|1:0,12:12:36:390,36,0:36
1	228471046	.	C	T	8051.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs41303079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41303079" target="_blank">rs41303079</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10024+61C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.8737+61C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.8737+61C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228471046">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,16:38:99:419,0,672:127	0|1:16,30:46:99:938,0,447:127	1|1:0,57:57:99:2033,171,0:127
1	228471379	.	G	C	12833.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs56168609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56168609" target="_blank">rs56168609</a>;ExAC.Info.AC=40063;ExAC.Info.AN=125326;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=26118;ExAC.Info.AC_Hom=6780;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgC;snpeff.Amino_Acid_Change=p.Arg3400Arg/c.10200G>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex33;SAVANT_HGVS=c.8913G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.8913G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228471379">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,32:89:99:886,0,1691:127	0|1:64,39:103:99:1118,0,1962:127	1|1:0,88:88:99:3031,264,0:127
1	228474817	.	G	A	2098.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4653935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4653935" target="_blank">rs4653935</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10831+77G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.9544+77G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.9544+77G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228474817">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1374:120	0|1:16,17:33:99:490,0,546:120	0|1:19,24:43:99:579,0,448:120
1	228474840	.	G	C	2076.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4653936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4653936" target="_blank">rs4653936</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10831+100G>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.9544+100G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.9544+100G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228474840">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1166:99	0|1:11,16:27:99:500,0,360:99	0|1:15,18:33:99:558,0,391:99
1	228480282	.	A	G	37513.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=855;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1150908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1150908" target="_blank">rs1150908</a>;ExAC.Info.AC=86926;ExAC.Info.AN=125054;ExAC.Info.AF=0.695;ExAC.Info.AC_Het=25236;ExAC.Info.AC_Hom=30779;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr3983Thr/c.11949A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex40;SAVANT_HGVS=c.10662A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.10662A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228480282">View</a>	GT:AD:DP:GQ:PL:TP	1|0:140,147:287:99:4036,0,4056:127	0|1:155,172:327:99:4958,0,4569:127	1|1:0,241:241:99:8323,723,0:127
1	228480480	.	C	T	5525.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=549;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs375496047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=375496047" target="_blank">rs375496047</a>;ExAC.Info.AC=3;ExAC.Info.AN=125584;ExAC.Info.AF=2.389e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr4049Thr/c.12147C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex40;SAVANT_HGVS=c.10860C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.10860C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228480480">View</a>	GT:AD:DP:GQ:PL:TP	0|0:176,0:176:99:0,529,6089:127	0|0:216,0:216:99:0,649,7082:127	0|1:69,88:157:99:2782,0,1877:127
1	228482010	.	C	T	18162.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=803;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs449133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=449133" target="_blank">rs449133</a>;ExAC.Info.AC=54812;ExAC.Info.AN=125564;ExAC.Info.AF=0.437;ExAC.Info.AC_Het=29470;ExAC.Info.AC_Hom=12569;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp4192Asp/c.12576C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.11289C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.11289C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228482010">View</a>	GT:AD:DP:GQ:PL:TP	1|0:117,126:243:99:3581,0,3298:127	0|0:273,1:274:99:0,799,10870:127	1|0:140,146:286:99:4185,0,5327:127
1	228482028	.	G	C	14811.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=755;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4653547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4653547" target="_blank">rs4653547</a>;ExAC.Info.AC=25389;ExAC.Info.AN=125708;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=19431;ExAC.Info.AC_Hom=2939;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu4198Leu/c.12594G>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.11307G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.11307G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228482028">View</a>	GT:AD:DP:GQ:PL:TP	0|0:251,0:251:99:0,761,10047:127	0|1:128,115:243:99:3559,0,4328:127	0|1:136,125:261:99:3858,0,5190:127
1	228486404	.	C	T	7014.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56021350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56021350" target="_blank">rs56021350</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=22486;ExAC.Info.AN=125410;ExAC.Info.AF=0.179;ExAC.Info.AC_Het=17639;ExAC.Info.AC_Hom=2160;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.611-2639G>A;snpeff.Gene_Name=RP5-1139B12.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1139B124" target="_blank">RP5-1139B124</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602778;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr4399Met/c.13196C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-1139B124" target="_blank">RP5-1139B124</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In43/44;SAVANT_HGVS=c.11659+3660C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.11659+3660C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228486404">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,351,3916:127	0|1:86,59:145:99:1674,0,2551:127	0|1:73,62:135:99:1853,0,1999:127
1	228492044	.	G	A	22728.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1150910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1150910" target="_blank">rs1150910</a>;ExAC.Info.AC=54172;ExAC.Info.AN=125192;ExAC.Info.AF=0.433;ExAC.Info.AC_Het=29219;ExAC.Info.AC_Hom=12306;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu4681Glu/c.14043G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In43/44;SAVANT_HGVS=c.11660-2029G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.11660-2029G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228492044">View</a>	GT:AD:DP:GQ:PL:TP	1|0:192,198:390:99:5615,0,5637:127	0|0:382,0:382:99:0,1148,13979:127	1|0:212,181:393:99:5162,0,6391:127
1	228494357	.	C	T	7524.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3795795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795795" target="_blank">rs3795795</a>;ExAC.Info.AC=22070;ExAC.Info.AN=124940;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=16606;ExAC.Info.AC_Hom=1818;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14797+18C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=55;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In44/45;SAVANT_HGVS=c.11926+18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.11926+18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228494357">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,346,5075:127	0|1:47,58:105:99:2104,0,2039:127	0|1:53,46:99:99:1678,0,1852:127
1	228494696	.	G	A	7198.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4653939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4653939" target="_blank">rs4653939</a>;ExAC.Info.AC=31471;ExAC.Info.AN=125392;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=20704;ExAC.Info.AC_Hom=4256;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala4964Ala/c.14892G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex45;SAVANT_HGVS=c.12021G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.12021G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228494696">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,330,3724:127	0|1:66,76:142:99:2166,0,1642:127	0|1:62,54:116:99:1453,0,1728:127
1	228494790	.	G	A	10317.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=447;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs435776;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=435776" target="_blank">rs435776</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=51197;ExAC.Info.AN=125634;ExAC.Info.AF=0.408;ExAC.Info.AC_Het=27769;ExAC.Info.AC_Hom=11579;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly4996Arg/c.14986G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex45;SAVANT_HGVS=c.12115G>A_p.Gly4039Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.12115G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228494790">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,79:159:99:2223,0,2228:127	0|0:155,2:157:99:0,422,5141:127	1|0:66,65:131:99:1901,0,1774:127
1	228496014	.	G	A	5038.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs876180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=876180" target="_blank">rs876180</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=25292;ExAC.Info.AN=125240;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=19027;ExAC.Info.AC_Hom=2784;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr5180Thr/c.15540G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex47;SAVANT_HGVS=c.12669G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.12669G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228496014">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,238,2954:127	0|1:39,47:86:99:1327,0,1066:127	0|1:45,40:85:99:1212,0,1382:127
1	228496066	.	G	T	1572.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55704206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55704206" target="_blank">rs55704206</a>;ExAC.Info.AC=2843;ExAC.Info.AN=124348;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2066;ExAC.Info.AC_Hom=51;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Tcc;snpeff.Amino_Acid_Change=p.Ala5198Ser/c.15592G>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex47;SAVANT_HGVS=c.12721G>T_p.Ala4241Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.12721G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228496066">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,255,2976:127	0|0:80,0:80:99:0,240,2907:127	0|1:40,29:69:99:805,0,1236:127
1	228497053	.	A	G	12207.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs379620;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=379620" target="_blank">rs379620</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.15807+57A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In48/49;SAVANT_HGVS=c.12936+57A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.12936+57A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228497053">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,41:70:99:1308,0,780:127	0|1:54,38:92:99:1143,0,1625:127	1|1:0,76:76:99:2823,228,0:127
1	228503677	.	A	G	10873.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1150912;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1150912" target="_blank">rs1150912</a>;ExAC.Info.AC=81665;ExAC.Info.AN=121462;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=19724;ExAC.Info.AC_Hom=22195;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His5338Arg/c.16013A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex50;SAVANT_HGVS=c.13142A>G_p.His4381Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.13142A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228503677">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,28:79:99:717,0,1610:127	0|1:42,40:82:99:1178,0,1203:127	1|1:0,75:75:99:2466,225,0:127
1	228504472	.	T	C	5783.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1188732;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1188732" target="_blank">rs1188732</a>;ExAC.Info.AC=85582;ExAC.Info.AN=124214;ExAC.Info.AF=0.689;ExAC.Info.AC_Het=23991;ExAC.Info.AC_Hom=28287;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys5407Arg/c.16219T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex51;SAVANT_HGVS=c.13348T>C_p.Cys4450Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.13348T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228504472">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,29:55:99:789,0,751:107	0|1:28,24:52:99:696,0,858:107	1|1:0,36:36:99:1158,107,0:107
1	228504591	.	C	A	2640.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61825301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61825301" target="_blank">rs61825301</a>;ExAC.Info.AC=17998;ExAC.Info.AN=120820;ExAC.Info.AF=0.149;ExAC.Info.AC_Het=8228;ExAC.Info.AC_Hom=864;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caC/caA;snpeff.Amino_Acid_Change=p.His5446Gln/c.16338C>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex51;SAVANT_HGVS=c.13467C>A_p.His4489Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.13467C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228504591">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1497:127	0|1:27,29:56:99:803,0,770:127	0|1:11,18:29:99:537,0,312:127
1	228504669	.	G	A	1740.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs61825302;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61825302" target="_blank">rs61825302</a>;ExAC.Info.AC=8222;ExAC.Info.AN=79470;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=1854;ExAC.Info.AC_Hom=159;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala5472Ala/c.16416G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex51;SAVANT_HGVS=c.13545G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.13545G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228504669">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1431:114	0|1:17,13:30:99:361,0,531:114	0|1:14,19:33:99:529,0,531:114
1	228504670	.	C	T	1721.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11810627;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11810627" target="_blank">rs11810627</a>;ExAC.Info.AC=21520;ExAC.Info.AN=74308;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=3355;ExAC.Info.AC_Hom=1175;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg5473Trp/c.16417C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex51;SAVANT_HGVS=c.13546C>T_p.Arg4516Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.13546C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228504670">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,16:38:99:359,0,602:32	0|0:25,2:27:32:0,32,956:32	1|0:19,14:33:99:380,0,756:32
1	228504701	.	G	GCTCC	4969.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs111792077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111792077" target="_blank">rs111792077</a>;ExAC.Info.AC=21893;ExAC.Info.AN=50978;ExAC.Info.AF=0.429;ExAC.Info.AC_Het=1477;ExAC.Info.AC_Hom=1355;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.16432+17_16432+18insCTCC;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In51/52;SAVANT_HGVS=c.13561+18_13561+19insCCCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.13561+18_13561+19insCCCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228504701">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,13:31:99:492,0,717:87	0|1:16,11:27:99:414,0,639:87	1|1:0,26:26:87:1269,87,0:87
1	228505204	.	G	A	3644.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4653942;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4653942" target="_blank">rs4653942</a>;ExAC.Info.AC=31988;ExAC.Info.AN=125072;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=21955;ExAC.Info.AC_Hom=4767;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg5491His/c.16472G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex52;SAVANT_HGVS=c.13601G>A_p.Arg4534His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.13601G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228505204">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,239,2540:127	0|1:33,34:67:99:918,0,948:127	0|1:39,35:74:99:924,0,976:127
1	228505668	.	C	G	10882.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1188729;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1188729" target="_blank">rs1188729</a>;ExAC.Info.AC=86995;ExAC.Info.AN=125210;ExAC.Info.AF=0.695;ExAC.Info.AC_Het=25259;ExAC.Info.AC_Hom=30673;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCt/tGt;snpeff.Amino_Acid_Change=p.Ser5599Cys/c.16796C>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex53;SAVANT_HGVS=c.13925C>G_p.Ser4642Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.13925C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228505668">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,35:74:99:1097,0,1042:127	0|1:39,29:68:99:844,0,1312:127	1|1:0,70:70:99:2526,210,0:127
1	228505699	.	T	C	12366.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1188728;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1188728" target="_blank">rs1188728</a>;ExAC.Info.AC=87303;ExAC.Info.AN=125240;ExAC.Info.AF=0.697;ExAC.Info.AC_Het=25122;ExAC.Info.AC_Hom=30933;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly5609Gly/c.16827T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex53;SAVANT_HGVS=c.13956T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.13956T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228505699">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,45:99:99:1246,0,1378:127	0|1:48,43:91:99:1117,0,1268:127	1|1:1,85:86:99:2777,217,0:127
1	228505739	.	G	A	5900.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795801;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795801" target="_blank">rs3795801</a>;ExAC.Info.AC=22979;ExAC.Info.AN=125432;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=18383;ExAC.Info.AC_Hom=2294;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Agt;snpeff.Amino_Acid_Change=p.Gly5623Ser/c.16867G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex53;SAVANT_HGVS=c.13996G>A_p.Gly4666Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.13996G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228505739">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,318,3585:127	0|1:72,55:127:99:1484,0,2046:127	0|1:41,45:86:99:1486,0,1112:127
1	228509427	.	A	G	14877.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs373610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=373610" target="_blank">rs373610</a>;ExAC.Info.AC=86071;ExAC.Info.AN=125322;ExAC.Info.AF=0.687;ExAC.Info.AC_Het=25575;ExAC.Info.AC_Hom=29818;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp5919Gly/c.17756A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=66;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex55;SAVANT_HGVS=c.14885A>G_p.Asp4962Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.14885A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228509427">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,60:125:99:1755,0,1671:127	0|1:81,51:132:99:1476,0,2307:127	1|1:1,95:96:99:3190,251,0:127
1	228520880	.	C	T	3179.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs416564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=416564" target="_blank">rs416564</a>;ExAC.Info.AC=40426;ExAC.Info.AN=122496;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=18985;ExAC.Info.AC_Hom=5079;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.18603-20C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=68;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In57/58;SAVANT_HGVS=c.15732-20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.15732-20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228520880">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,22:56:99:622,0,992:127	0|0:66,0:66:99:0,198,2380:127	1|0:19,18:37:99:536,0,651:127
1	228520973	.	C	G	4710.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs369909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=369909" target="_blank">rs369909</a>;ExAC.Info.AC=34099;ExAC.Info.AN=117800;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=9160;ExAC.Info.AC_Hom=2438;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Gtc;snpeff.Amino_Acid_Change=p.Leu6226Val/c.18676C>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=69;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex58;SAVANT_HGVS=c.15805C>G_p.Leu5269Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.15805C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228520973">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,39:83:99:1007,0,1339:127	0|0:85,0:85:99:0,256,3109:127	1|0:34,23:57:99:601,0,1026:127
1	228523442	.	T	C	3812.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1684868;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1684868" target="_blank">rs1684868</a>;ExAC.Info.AC=61205;ExAC.Info.AN=124980;ExAC.Info.AF=0.490;ExAC.Info.AC_Het=30466;ExAC.Info.AC_Hom=15130;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19277-50T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=73;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In62/63;SAVANT_HGVS=c.16406-50T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.16406-50T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228523442">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,12:30:99:483,0,750:114	0|0:37,0:37:99:0,114,1677:114	1|0:13,20:33:99:822,0,456:114
1	228523447	.	T	C	10054.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10799473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10799473" target="_blank">rs10799473</a>;ExAC.Info.AC=100924;ExAC.Info.AN=124900;ExAC.Info.AF=0.808;ExAC.Info.AC_Het=18474;ExAC.Info.AC_Hom=40938;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19277-45T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=73;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In62/63;SAVANT_HGVS=c.16406-45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.16406-45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228523447">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1287,99,0:104	1|1:0,39:39:99:1321,117,0:104	1|1:0,35:35:99:1435,105,0:104
1	228523448	.	G	A	4071.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1757161;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1757161" target="_blank">rs1757161</a>;ExAC.Info.AC=47337;ExAC.Info.AN=124984;ExAC.Info.AF=0.379;ExAC.Info.AC_Het=28486;ExAC.Info.AC_Hom=9242;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19277-44G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=73;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In62/63;SAVANT_HGVS=c.16406-44G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.16406-44G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228523448">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,13:34:99:477,0,822:120	0|0:39,0:39:99:0,120,1727:120	1|0:12,23:35:99:898,0,409:120
1	228523618	.	G	A	2423.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=74;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1757160;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1757160" target="_blank">rs1757160</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19337+66G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=74;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In63/64;SAVANT_HGVS=c.16466+66G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.16466+66G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228523618">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,15:29:99:407,0,429:60	0|0:20,0:20:60:0,60,794:60	1|0:5,20:25:99:612,0,128:60
1	228524919	.	G	A	5759.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3795807;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795807" target="_blank">rs3795807</a>;ExAC.Info.AC=43485;ExAC.Info.AN=124914;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=26269;ExAC.Info.AC_Hom=7995;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19532-26G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=76;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In65/66;SAVANT_HGVS=c.16661-26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.16661-26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228524919">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,37:91:99:1029,0,1814:127	0|0:111,0:111:99:0,334,4207:127	1|0:47,33:80:99:924,0,1625:127
1	228524961	.	C	A	7659.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3795808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795808" target="_blank">rs3795808</a>;ExAC.Info.AC=43230;ExAC.Info.AN=124940;ExAC.Info.AF=0.346;ExAC.Info.AC_Het=25656;ExAC.Info.AC_Hom=7664;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccA;snpeff.Amino_Acid_Change=p.Pro6516Pro/c.19548C>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=77;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex66;SAVANT_HGVS=c.16677C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.16677C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228524961">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,49:100:99:1501,0,1493:127	0|0:136,0:136:99:0,408,4906:127	1|0:63,49:112:99:1485,0,1696:127
1	228525008	.	G	A	6948.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795809" target="_blank">rs3795809</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15252;ExAC.Info.AN=124964;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=12248;ExAC.Info.AC_Hom=995;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg6532His/c.19595G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=77;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex66;SAVANT_HGVS=c.16724G>A_p.Arg5575His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.16724G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228525008">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,359,4142:127	0|1:69,69:138:99:1826,0,1968:127	0|1:59,61:120:99:1668,0,1734:127
1	228525627	.	C	A	3549.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1757127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1757127" target="_blank">rs1757127</a>;ExAC.Info.AC=42407;ExAC.Info.AN=126066;ExAC.Info.AF=0.336;ExAC.Info.AC_Het=23152;ExAC.Info.AC_Hom=6582;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19672-18C>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=77;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In66/67;SAVANT_HGVS=c.16801-18C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.16801-18C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228525627">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,22:42:99:637,0,541:127	0|0:65,0:65:99:0,195,2189:127	1|0:34,20:54:99:552,0,938:127
1	228526011	.	C	T	4828.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11577699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11577699" target="_blank">rs11577699</a>;ExAC.Info.AC=16270;ExAC.Info.AN=124652;ExAC.Info.AF=0.131;ExAC.Info.AC_Het=12053;ExAC.Info.AC_Hom=762;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala6631Ala/c.19893C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=79;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex68;SAVANT_HGVS=c.17022C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.17022C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228526011">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,276,3133:127	0|1:66,52:118:99:1426,0,1706:127	0|1:27,33:60:99:1008,0,746:127
1	228526665	.	T	C	4407.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs505629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=505629" target="_blank">rs505629</a>;ExAC.Info.AC=20764;ExAC.Info.AN=57434;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=4999;ExAC.Info.AC_Hom=2339;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala6689Ala/c.20067T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex69;SAVANT_HGVS=c.17196T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.17196T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228526665">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,28:65:99:753,0,1038:127	0|0:78,0:78:99:0,234,2815:127	1|0:25,30:55:99:808,0,750:127
1	228526742	.	C	CCA	2291.98	PASS	InheritancePattern=unknown;AC=1;AF=0.333;AN=3;DP=48;MQ=70.21;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./.;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.20129+16_20129+17insCA;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In69/70;SAVANT_HGVS=c.17258+49_17258+50dupAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.17258+49_17258+50dupAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228526742">View</a>	GT:AD:DP:GQ:PL	0/1:10,5:19:43:194,0,209	./0:6,3:15:23:123,23,139	./.:1,0:14:2:461,294,291
1	228526742	.	C	CCACA	2291.98	PASS	InheritancePattern=notInChild;AC=3;AF=0.600;AN=5;DP=48;MQ=70.21;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=1/1;NA12891_GT=0/1;dbSNP139.ID=rs10634565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10634565" target="_blank">rs10634565</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.20129+16_20129+17insCACA;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In69/70;SAVANT_HGVS=c.17258+47_17258+50dupACAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.17258+47_17258+50dupACAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228526742">View</a>	GT:AD:DP:GQ:PL	./0:10,4:19:43:194,43,385	0/1:6,6:15:23:123,0,170	1/1:1,13:14:2:461,2,0
1	228528412	.	G	A	6999.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1150916;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1150916" target="_blank">rs1150916</a>;ExAC.Info.AC=46715;ExAC.Info.AN=124324;ExAC.Info.AF=0.376;ExAC.Info.AC_Het=27418;ExAC.Info.AC_Hom=8775;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.20404-13G>A;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=82;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In71/72;SAVANT_HGVS=c.17533-13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.17533-13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228528412">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,41:89:99:1224,0,1430:127	0|0:106,0:106:99:0,319,3772:127	1|0:45,50:95:99:1365,0,1264:127
1	228528563	.	C	G	9251.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1188710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1188710" target="_blank">rs1188710</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=59509;ExAC.Info.AN=122300;ExAC.Info.AF=0.487;ExAC.Info.AC_Het=21533;ExAC.Info.AC_Hom=10948;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln6848Glu/c.20542C>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=83;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex72;SAVANT_HGVS=c.17671C>G_p.Gln5891Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.17671C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228528563">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,65:139:99:1800,0,2117:127	0|0:131,0:131:99:0,394,4775:127	1|0:43,50:93:99:1598,0,1264:127
1	228547901	.	C	T	6401.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12035900;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12035900" target="_blank">rs12035900</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=38622;ExAC.Info.AN=125706;ExAC.Info.AF=0.307;ExAC.Info.AC_Het=25322;ExAC.Info.AC_Hom=6369;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.21533-2376C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=90;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=In79/80;SAVANT_HGVS=c.18662-2376C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.18662-2376C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228547901">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,41:82:99:1198,0,1227:127	1|0:64,35:99:99:1004,0,1838:127	0|0:98,0:98:99:0,295,3400:127
1	228559967	.	C	T	8580.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72762066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72762066" target="_blank">rs72762066</a>;ExAC.Info.AC=1091;ExAC.Info.AN=123172;ExAC.Info.AF=8.858e-03;ExAC.Info.AC_Het=654;ExAC.Info.AC_Hom=10;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cTc;snpeff.Amino_Acid_Change=p.Pro8120Leu/c.24359C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=105;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex94;SAVANT_HGVS=c.21488C>T_p.Pro7163Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.21488C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228559967">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,45:105:99:1147,0,1657:127	1|0:66,65:131:99:1819,0,1838:127	0|0:108,0:108:99:0,325,3835:127
1	228559994	.	C	T	15621.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs500049;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=500049" target="_blank">rs500049</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=58286;ExAC.Info.AN=119966;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=14471;ExAC.Info.AC_Hom=9148;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala8129Val/c.24386C>T;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=105;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex94;SAVANT_HGVS=c.21515C>T_p.Ala7172Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.21515C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228559994">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,46:103:99:1124,0,1558:127	1|1:0,125:125:99:4199,375,0:127	0|1:52,49:101:99:1384,0,1397:127
1	228560139	.	A	G	7367.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs498382;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=498382" target="_blank">rs498382</a>;ExAC.Info.AC=105094;ExAC.Info.AN=113320;ExAC.Info.AF=0.927;ExAC.Info.AC_Het=2122;ExAC.Info.AC_Hom=19820;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser8177Ser/c.24531A>G;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=105;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex94;SAVANT_HGVS=c.21660A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.21660A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228560139">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:931,69,0:77	1|1:0,26:26:78:1019,78,0:77	1|1:0,32:32:96:1191,96,0:77
1	228560700	.	T	C	10382.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=218;MQ=69.92;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs512253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=512253" target="_blank">rs512253</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=76642;ExAC.Info.AN=122830;ExAC.Info.AF=0.624;ExAC.Info.AC_Het=23846;ExAC.Info.AC_Hom=22249;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp8364Asp/c.25092T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=105;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex94;SAVANT_HGVS=c.22221T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.22221T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228560700">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,36:80:99:1058,0,1254:127	1|1:0,72:72:99:2579,216,0:127	0|1:31,35:66:99:1089,0,936:127
1	228562350	.	T	C	11072.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=481;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72762068;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72762068" target="_blank">rs72762068</a>;ExAC.Info.AC=2347;ExAC.Info.AN=125444;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2259;ExAC.Info.AC_Hom=31;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu8477Leu/c.25431T>C;snpeff.Amino_Acid_length=8923;snpeff.Gene_Name=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000570156;snpeff.Exon_Rank=108;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000422127;SAVANT_GENE=OBSCN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSCN" target="_blank">OBSCN</a>;SAVANT_INFO=+/170.7kb/105/24.0kb;SAVANT_LOC=Ex97;SAVANT_HGVS=c.22560T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBSCN+c.22560T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228562350">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,80:150:99:2449,0,1716:127	0|0:188,0:188:99:0,565,6229:127	1|0:69,74:143:99:1983,0,1882:127
1	228601638	.	T	C	4786.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs472594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=472594" target="_blank">rs472594</a>;ExAC.Info.AC=40085;ExAC.Info.AN=126672;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=23905;ExAC.Info.AC_Hom=7834;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.430-45A>G;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=TRIM17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM17" target="_blank">TRIM17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366697;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366697;SAVANT_GENE=TRIM17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM17" target="_blank">TRIM17</a>;SAVANT_INFO=-/8.1kb/6/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.430-45A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM17+c.430-45A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228601638">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,273,2923:127	0|1:53,52:105:99:1496,0,1362:127	0|1:38,30:68:99:917,0,1042:127
1	228612838	.	G	T	30502.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2230656;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230656" target="_blank">rs2230656</a>;ExAC.Info.AC=103866;ExAC.Info.AN=126704;ExAC.Info.AF=0.820;ExAC.Info.AC_Het=15981;ExAC.Info.AC_Hom=43934;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atA;snpeff.Amino_Acid_Change=p.Ile63Ile/c.189C>A;snpeff.Amino_Acid_length=136;snpeff.Gene_Name=HIST3H3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST3H3" target="_blank">HIST3H3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366696;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366696;SAVANT_GENE=HIST3H3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST3H3" target="_blank">HIST3H3</a>;SAVANT_INFO=-/0.5kb/1/0.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.189C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIST3H3+c.189C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228612838">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:3740,346,0:127	1|1:0,140:140:99:4868,421,0:127	1|1:0,129:129:99:4373,388,0:127
1	228612892	.	G	A	1786.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs56336130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56336130" target="_blank">rs56336130</a>;ExAC.Info.AC=8930;ExAC.Info.AN=126684;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=8115;ExAC.Info.AC_Hom=400;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly45Gly/c.135C>T;snpeff.Amino_Acid_length=136;snpeff.Gene_Name=HIST3H3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST3H3" target="_blank">HIST3H3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366696;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366696;SAVANT_GENE=HIST3H3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIST3H3" target="_blank">HIST3H3</a>;SAVANT_INFO=-/0.5kb/1/0.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.135C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIST3H3+c.135C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228612892">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,280,3369:127	0|0:110,0:110:99:0,330,4085:127	0|1:45,34:79:99:912,0,1503:127
1	228613052	.	T	C	14803.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1188474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1188474" target="_blank">rs1188474</a>;ExAC.Info.AC=110274;ExAC.Info.AN=126382;ExAC.Info.AF=0.873;ExAC.Info.AC_Het=13149;ExAC.Info.AC_Hom=47999;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1188474" target="_blank">rs1188474</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228613052">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:1956,192,0:127	1|1:0,74:74:99:2474,222,0:127	1|1:0,44:44:99:1463,132,0:127
1	228645063	.	A	G	10346.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10916317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10916317" target="_blank">rs10916317</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10916317" target="_blank">rs10916317</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228645063">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1358,99,0:104	1|1:0,35:35:99:1472,105,0:104	1|1:0,46:46:99:1807,138,0:104
1	228675570	.	G	C	618.05	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=22;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs61827301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61827301" target="_blank">rs61827301</a>;ExAC.Info.AC=381;ExAC.Info.AN=14428;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=39;ExAC.Info.AC_Hom=4;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu18Leu/c.54G>C;snpeff.Amino_Acid_length=126;snpeff.Gene_Name=RNF187;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF187" target="_blank">RNF187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305943;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305943;SAVANT_GENE=RNF187;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF187" target="_blank">RNF187</a>;SAVANT_INFO=+/8.7kb/4/3.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.54G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF187+c.54G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228675570">View</a>	GT:AD:DP:GQ:PL:TP	0|0:8,0:8:24:0,24,254:24	0|1:2,4:6:69:149,0,69:24	0|1:2,6:8:43:180,0,43:24
1	228698311	.	C	A	1507.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs115476782;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115476782" target="_blank">rs115476782</a>;ExAC.Info.AC=920;ExAC.Info.AN=25466;ExAC.Info.AF=0.036;ExAC.Info.AC_Het=778;ExAC.Info.AC_Hom=25;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.510G>T;snpeff.Gene_Name=BTNL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTNL10" target="_blank">BTNL10</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000595971;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400948;SAVANT_GENE=RP5-915N17.9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-915N179" target="_blank">RP5-915N179</a>;SAVANT_INFO=-/1.9kb/3/0.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.508G>T_p.Ala170Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-915N179+c.508G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228698311">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2297:127	0|1:36,30:66:99:773,0,1248:127	0|0:68,0:68:99:0,204,2617:127
1	228699477	.	T	C	35296.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=533;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6665115;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6665115" target="_blank">rs6665115</a>;ExAC.Info.AC=14038;ExAC.Info.AN=25776;ExAC.Info.AF=0.545;ExAC.Info.AC_Het=4478;ExAC.Info.AC_Hom=3596;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.316A>G;snpeff.Gene_Name=BTNL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTNL10" target="_blank">BTNL10</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000595971;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000400948;SAVANT_GENE=RP5-915N17.9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-915N179" target="_blank">RP5-915N179</a>;SAVANT_INFO=-/1.9kb/3/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.314A>G_p.His105Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-915N179+c.314A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228699477">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,158:158:99:5392,475,0:127	1|0:106,108:214:99:3100,0,2776:127	1|1:0,161:161:99:5624,483,0:127
1	228786285	.	G	A	2414.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs77648740;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77648740" target="_blank">rs77648740</a>;ExAC.Info.AC=605;ExAC.Info.AN=74956;ExAC.Info.AF=8.071e-03;ExAC.Info.AC_Het=410;ExAC.Info.AC_Hom=13;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.598G>A;snpeff.Gene_Name=DUSP5P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5P1" target="_blank">DUSP5P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000327449;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5P1" target="_blank">DUSP5P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP5P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228786285">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1615:127	0|1:27,38:65:99:1226,0,871:127	0|0:61,0:61:99:0,183,2277:127
1	228871693	.	C	T	5914.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3738073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738073" target="_blank">rs3738073</a>;ExAC.Info.AC=20090;ExAC.Info.AN=124826;ExAC.Info.AF=0.161;ExAC.Info.AC_Het=15650;ExAC.Info.AC_Hom=1830;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.204C>T;snpeff.Amino_Acid_length=258;snpeff.Gene_Name=RHOU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHOU" target="_blank">RHOU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366691;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser68Ser/c.204C>T;snpeff.Amino_Acid_length=258;snpeff.Gene_Name=RHOU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHOU" target="_blank">RHOU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366691;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366691;SAVANT_GENE=RHOU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RHOU" target="_blank">RHOU</a>;SAVANT_INFO=+/11.6kb/3/4.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.204C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RHOU+c.204C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:228871693">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,29:68:99:681,0,1183:127	0|0:102,2:104:99:0,263,3502:127	1|0:26,30:56:99:843,0,763:127
1	229422193	.	T	C	10917.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs237764;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=237764" target="_blank">rs237764</a>;ExAC.Info.AC=73073;ExAC.Info.AN=124536;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=18837;ExAC.Info.AC_Hom=15339;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.32-40T>C;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=RAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB4A" target="_blank">RAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366690;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32T>C;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=RAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB4A" target="_blank">RAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366690;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32T>C;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=RAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB4A" target="_blank">RAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366690;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366690;SAVANT_GENE=RAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB4A" target="_blank">RAB4A</a>;SAVANT_INFO=+/34.8kb/8/3.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.32-40T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAB4A+c.32-40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229422193">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1180,99,0:127	1|1:0,54:54:99:2009,162,0:127	1|1:0,49:49:99:1707,147,0:127
1	229461024	.	C	T	15568.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=501;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2282083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282083" target="_blank">rs2282083</a>;ExAC.Info.AC=52257;ExAC.Info.AN=126704;ExAC.Info.AF=0.412;ExAC.Info.AC_Het=30109;ExAC.Info.AC_Hom=11066;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro257Pro/c.771G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CCSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCSAP" target="_blank">CCSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284617;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284617;SAVANT_GENE=C1orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf96" target="_blank">C1orf96</a>;SAVANT_INFO=-/22.0kb/4/5.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.771G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf96+c.771G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229461024">View</a>	GT:AD:DP:GQ:PL:TP	0/1:81,89:170:99:2441,0,2249:127	0/1:96,81:177:99:2340,0,2808:127	0/1:74,80:154:99:2414,0,2143:127
1	229477767	.	A	G	3102.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12756927;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12756927" target="_blank">rs12756927</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.367+79T>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CCSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCSAP" target="_blank">CCSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284617;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284617;SAVANT_GENE=C1orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf96" target="_blank">C1orf96</a>;SAVANT_INFO=-/22.0kb/4/5.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.367+79T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf96+c.367+79T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229477767">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,234,2648:127	0|1:33,43:76:99:1570,0,980:127	0|0:95,0:95:99:0,286,3386:127
1	229568231	.	T	G	1800.06	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=16;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nemaline_myopathy_3|_autosomal_dominant_or_recessive|_161800_(3)|_Myopathy|_actin|_congenital|_with_excess_of_thin_myofilaments|_161800_(3)|_Myopathy|_actin|_congenital|_with_cores|_161800_(3)|_Myopathy|_congenital|_with_fiber-type_disproportion_1|_255310_(3);dbSNP139.ID=rs527621;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=527621" target="_blank">rs527621</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.455-53A>C;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=ACTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTA1" target="_blank">ACTA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366684;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366684;SAVANT_GENE=ACTA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTA1" target="_blank">ACTA1</a>;SAVANT_INFO=-/2.9kb/7/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.455-53A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTA1+c.455-53A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229568231">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,6:6:18:230,18,0:11	1|1:0,6:6:18:250,18,0:11	1|1:0,4:4:12:172,12,0:11
1	229663064	.	GAGGAA	G	40035.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=460;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs113712941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113712941" target="_blank">rs113712941</a>;ExAC.Info.AC=126565;ExAC.Info.AN=126678;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=97;ExAC.Info.AC_Hom=63170;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1646-14_1646-10delTTCCT;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1646_1650delAGGAA;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344517;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000344517;SAVANT_GENE=ABCB10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB10" target="_blank">ABCB10</a>;SAVANT_INFO=-/42.1kb/13/3.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1646-14_1646-10del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCB10+c.1646-14_1646-10del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229663064">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,171:171:99:6060,514,0:127	1|1:0,139:139:99:5196,418,0:127	1|1:0,150:150:99:5526,451,0:127
1	229730452	.	G	A	11494.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=489;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2295625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295625" target="_blank">rs2295625</a>;ExAC.Info.AC=50650;ExAC.Info.AN=126702;ExAC.Info.AF=0.400;ExAC.Info.AC_Het=28785;ExAC.Info.AC_Hom=10914;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser454Ser/c.1362C>T;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TAF5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5L" target="_blank">TAF5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258281;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258281;SAVANT_GENE=TAF5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5L" target="_blank">TAF5L</a>;SAVANT_INFO=-/32.9kb/5/3.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1362C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF5L+c.1362C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229730452">View</a>	GT:AD:DP:GQ:PL:TP	0|1:89,68:157:99:1868,0,2483:127	1|0:92,77:169:99:2268,0,2634:127	0|0:163,0:163:99:0,490,5860:127
1	229738170	.	T	G	6374.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3753886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3753886" target="_blank">rs3753886</a>;ExAC.Info.AC=69924;ExAC.Info.AN=126704;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=30456;ExAC.Info.AC_Hom=19722;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgC;snpeff.Amino_Acid_Change=p.Arg248Arg/c.744A>C;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TAF5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5L" target="_blank">TAF5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258281;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258281;SAVANT_GENE=TAF5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5L" target="_blank">TAF5L</a>;SAVANT_INFO=-/32.9kb/5/3.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.744A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF5L+c.744A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229738170">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,28:75:99:755,0,1361:127	1|0:41,53:94:99:1588,0,1198:127	0|0:77,0:77:99:0,231,2598:127
1	229738236	.	G	A	10902.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4925500;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4925500" target="_blank">rs4925500</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=100029;ExAC.Info.AN=126698;ExAC.Info.AF=0.790;ExAC.Info.AC_Het=20336;ExAC.Info.AC_Hom=39814;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro226Pro/c.678C>T;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TAF5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5L" target="_blank">TAF5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258281;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258281;SAVANT_GENE=TAF5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5L" target="_blank">TAF5L</a>;SAVANT_INFO=-/32.9kb/5/3.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.678C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF5L+c.678C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229738236">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,36:82:99:1030,0,1317:127	1|1:1,110:111:99:3856,323,0:127	0|0:76,0:76:99:0,229,2806:127
1	229746019	.	C	T	3655.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2273573;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273573" target="_blank">rs2273573</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.143-62G>A;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TAF5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5L" target="_blank">TAF5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258281;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258281;SAVANT_GENE=TAF5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5L" target="_blank">TAF5L</a>;SAVANT_INFO=-/32.9kb/5/3.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.143-62G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF5L+c.143-62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229746019">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,19:43:99:554,0,793:127	1|0:38,28:66:99:704,0,1048:127	0|0:55,0:55:99:0,165,1722:127
1	229750036	.	C	T	2630.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7547607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7547607" target="_blank">rs7547607</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.142+52G>A;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TAF5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5L" target="_blank">TAF5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258281;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258281;SAVANT_GENE=TAF5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5L" target="_blank">TAF5L</a>;SAVANT_INFO=-/32.9kb/5/3.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.142+52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF5L+c.142+52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229750036">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1647:127	0|1:38,44:82:99:1334,0,1041:127	0|0:77,0:77:99:0,231,2642:127
1	229772693	.	T	G	7453.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3811473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811473" target="_blank">rs3811473</a>;ExAC.Info.AC=69901;ExAC.Info.AN=126682;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=30388;ExAC.Info.AC_Hom=19695;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gGc;snpeff.Amino_Acid_Change=p.Val778Gly/c.2333T>G;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258243;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258243;SAVANT_GENE=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;SAVANT_INFO=+/34.0kb/10/5.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.2333T>G_p.Val778Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=URB2+c.2333T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229772693">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,36:90:99:1084,0,1501:127	1|0:57,61:118:99:1736,0,1511:127	0|0:100,0:100:99:0,300,3454:127
1	229781744	.	T	C	5269.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2274994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274994" target="_blank">rs2274994</a>;ExAC.Info.AC=69859;ExAC.Info.AN=126698;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=30405;ExAC.Info.AC_Hom=19667;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3906+28T>C;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258243;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258243;SAVANT_GENE=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;SAVANT_INFO=+/34.0kb/10/5.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.3906+28T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=URB2+c.3906+28T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229781744">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,31:67:99:836,0,1046:127	1|0:53,40:93:99:1053,0,1392:127	0|0:77,0:77:99:0,231,2534:127
1	229783236	.	T	C	13300.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs6587349;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587349" target="_blank">rs6587349</a>;ExAC.Info.AC=115589;ExAC.Info.AN=126676;ExAC.Info.AF=0.912;ExAC.Info.AC_Het=9595;ExAC.Info.AC_Hom=52713;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3907-21T>C;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258243;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258243;SAVANT_GENE=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;SAVANT_INFO=+/34.0kb/10/5.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.3907-21T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=URB2+c.3907-21T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229783236">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2508,183,0:127	1|1:0,68:68:99:2806,211,0:127	1|0:21,25:46:99:780,0,593:127
1	229783240	.	T	C	4224.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2274995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274995" target="_blank">rs2274995</a>;ExAC.Info.AC=69558;ExAC.Info.AN=126678;ExAC.Info.AF=0.549;ExAC.Info.AC_Het=30348;ExAC.Info.AC_Hom=19476;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3907-17T>C;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258243;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258243;SAVANT_GENE=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;SAVANT_INFO=+/34.0kb/10/5.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.3907-17T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=URB2+c.3907-17T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229783240">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,31:63:99:845,0,899:127	1|0:38,32:70:99:1015,0,1111:127	0|0:51,0:51:99:0,153,2432:127
1	229787030	.	G	A	5282.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12142450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12142450" target="_blank">rs12142450</a>;ExAC.Info.AC=888;ExAC.Info.AN=126704;ExAC.Info.AF=7.008e-03;ExAC.Info.AC_Het=878;ExAC.Info.AC_Hom=4;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val1400Met/c.4198G>A;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258243;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258243;SAVANT_GENE=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;SAVANT_INFO=+/34.0kb/10/5.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.4198G>A_p.Val1400Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=URB2+c.4198G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229787030">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,48:98:99:1175,0,1405:127	0|0:142,0:142:99:0,427,4814:127	1|0:65,29:94:99:662,0,2054:127
1	229790048	.	A	G	9273.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7521953;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7521953" target="_blank">rs7521953</a>;ExAC.Info.AC=71488;ExAC.Info.AN=126704;ExAC.Info.AF=0.564;ExAC.Info.AC_Het=29725;ExAC.Info.AC_Hom=20879;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg1430Arg/c.4290A>G;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258243;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258243;SAVANT_GENE=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;SAVANT_INFO=+/34.0kb/10/5.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.4290A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=URB2+c.4290A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229790048">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,46:107:99:1425,0,1631:127	1|0:59,67:126:99:1992,0,1684:127	0|0:154,0:154:99:0,463,5264:127
1	229795070	.	T	G	1686.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1048306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048306" target="_blank">rs1048306</a>;ExAC.Info.AC=71329;ExAC.Info.AN=126668;ExAC.Info.AF=0.563;ExAC.Info.AC_Het=29636;ExAC.Info.AC_Hom=20614;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=26;snpeff.Amino_Acid_Change=c.*26T>G;snpeff.Amino_Acid_length=1524;snpeff.Gene_Name=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258243;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258243;SAVANT_GENE=URB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=URB2" target="_blank">URB2</a>;SAVANT_INFO=+/34.0kb/10/5.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*26T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=URB2+c.*26T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:229795070">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,12:22:99:319,0,296:114	1|0:13,13:26:99:410,0,435:114	0|0:38,0:38:99:0,114,1309:114
1	230207406	.	C	A	28526.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1474926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1474926" target="_blank">rs1474926</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.126+4253C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127C>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366672;SAVANT_GENE=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;SAVANT_INFO=+/214.9kb/16/4.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.126+4253C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNT2+c.126+4253C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230207406">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3887,331,0:127	1|1:0,121:121:99:4244,363,0:127	1|1:0,112:112:99:3929,337,0:127
1	230207433	.	A	C	34880.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1474925;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1474925" target="_blank">rs1474925</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.126+4280A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127A>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366672;SAVANT_GENE=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;SAVANT_INFO=+/214.9kb/16/4.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.126+4280A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNT2+c.126+4280A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230207433">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4553,412,0:127	1|1:0,163:163:99:5386,490,0:127	1|1:0,141:141:99:4972,424,0:127
1	230371883	.	G	A	9048.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3811488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811488" target="_blank">rs3811488</a>;ExAC.Info.AC=64789;ExAC.Info.AN=126678;ExAC.Info.AF=0.511;ExAC.Info.AC_Het=27609;ExAC.Info.AC_Hom=17995;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.473+25G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366672;SAVANT_GENE=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;SAVANT_INFO=+/214.9kb/16/4.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.473+25G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNT2+c.473+25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230371883">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,60:123:99:1623,0,2026:127	1|0:82,90:172:99:2493,0,2528:127	0|0:120,0:120:99:0,361,4447:127
1	230384937	.	T	C	14205.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=580;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3748006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748006" target="_blank">rs3748006</a>;ExAC.Info.AC=18361;ExAC.Info.AN=126704;ExAC.Info.AF=0.145;ExAC.Info.AC_Het=12064;ExAC.Info.AC_Hom=3147;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp275Asp/c.825T>C;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366672;SAVANT_GENE=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;SAVANT_INFO=+/214.9kb/16/4.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.825T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNT2+c.825T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230384937">View</a>	GT:AD:DP:GQ:PL:TP	0|1:99,90:189:99:2516,0,2578:127	1|0:96,116:212:99:3347,0,2617:127	0|0:179,0:179:99:0,538,5959:127
1	230386174	.	C	T	12175.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=583;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2273965;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273965" target="_blank">rs2273965</a>;ExAC.Info.AC=17454;ExAC.Info.AN=126658;ExAC.Info.AF=0.138;ExAC.Info.AC_Het=11185;ExAC.Info.AC_Hom=2762;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.906-29C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366672;SAVANT_GENE=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;SAVANT_INFO=+/214.9kb/16/4.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.906-29C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNT2+c.906-29C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230386174">View</a>	GT:AD:DP:GQ:PL:TP	0|1:84,100:184:99:2822,0,2503:127	1|0:119,79:198:99:2371,0,3657:127	0|0:201,0:201:99:0,604,6986:127
1	230415025	.	A	G	7830.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6698963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6698963" target="_blank">rs6698963</a>;ExAC.Info.AC=70310;ExAC.Info.AN=126640;ExAC.Info.AF=0.555;ExAC.Info.AC_Het=27644;ExAC.Info.AC_Hom=20837;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1561-24A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561A>G;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366672;SAVANT_GENE=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;SAVANT_INFO=+/214.9kb/16/4.5kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1561-24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNT2+c.1561-24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230415025">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,36:91:99:1006,0,1466:127	1|0:73,66:139:99:1820,0,1881:127	0|0:85,0:85:99:0,255,2553:127
1	230415148	.	G	A	5860.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2273970;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273970" target="_blank">rs2273970</a>;ExAC.Info.AC=10781;ExAC.Info.AN=126702;ExAC.Info.AF=0.085;ExAC.Info.AC_Het=9002;ExAC.Info.AC_Hom=877;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val554Met/c.1660G>A;snpeff.Amino_Acid_length=571;snpeff.Gene_Name=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366672;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366672;SAVANT_GENE=GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT2" target="_blank">GALNT2</a>;SAVANT_INFO=+/214.9kb/16/4.5kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1660G>A_p.Val554Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNT2+c.1660G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230415148">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,32:71:99:870,0,1327:127	1|0:44,51:95:99:1578,0,1518:127	0|0:61,0:61:99:0,184,2483:127
1	230451935	.	C	CAT	3332.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=64;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs144363709;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144363709" target="_blank">rs144363709</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.41_42insAT;snpeff.Gene_Name=AL691479.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL6914791" target="_blank">AL6914791</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000366088;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL6914791" target="_blank">AL6914791</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL6914791+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230451935">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,11:26:99:459,0,600:57	1|1:0,19:19:57:838,57,0:57	0|1:12,7:19:99:258,0,489:57
1	230451978	.	G	A	3693.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=105;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs11122492;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11122492" target="_blank">rs11122492</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11122492" target="_blank">rs11122492</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230451978">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,23:47:99:547,0,560:78	1|1:0,26:26:78:922,78,0:78	0|1:19,13:32:99:306,0,444:78
1	230798864	.	C	CT	640.69	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.301-22_301-21insT;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=COG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COG2" target="_blank">COG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366669;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366669;SAVANT_GENE=COG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COG2" target="_blank">COG2</a>;SAVANT_INFO=+/51.5kb/18/2.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.301-12dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=COG2+c.301-12dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230798864">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,116,1005:115	0|0:43,0:43:99:0,128,1109:115	0|1:29,18:47:99:322,0,630:115
1	230822903	.	C	T	20291.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=561;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2493147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2493147" target="_blank">rs2493147</a>;ExAC.Info.AC=8805;ExAC.Info.AN=126678;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=7975;ExAC.Info.AC_Hom=401;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1578+25C>T;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=COG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COG2" target="_blank">COG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366669;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366669;SAVANT_GENE=COG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COG2" target="_blank">COG2</a>;SAVANT_INFO=+/51.5kb/18/2.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1578+25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COG2+c.1578+25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230822903">View</a>	GT:AD:DP:GQ:PL:TP	0|1:95,88:183:99:2412,0,2813:127	1|1:1,209:210:99:7020,588,0:127	0|0:168,0:168:99:0,505,6032:127
1	230828987	.	C	A	11833.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2478534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2478534" target="_blank">rs2478534</a>;ExAC.Info.AC=43857;ExAC.Info.AN=126662;ExAC.Info.AF=0.346;ExAC.Info.AC_Het=26252;ExAC.Info.AC_Hom=8376;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2116-51C>A;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=COG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COG2" target="_blank">COG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366669;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366669;SAVANT_GENE=COG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COG2" target="_blank">COG2</a>;SAVANT_INFO=+/51.5kb/18/2.9kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2116-51C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COG2+c.2116-51C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230828987">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,48:94:99:1247,0,1259:127	1|1:0,114:114:99:3895,343,0:127	0|0:88,0:88:99:0,265,3182:127
1	230837044	.	G	A	27913.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=657;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs943580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=943580" target="_blank">rs943580</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=943580" target="_blank">rs943580</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230837044">View</a>	GT:AD:DP:GQ:PL:TP	0|1:108,113:221:99:2800,0,2913:127	1|1:0,237:237:99:7509,712,0:127	0|1:99,100:199:99:2635,0,2702:127
1	230838258	.	G	A	5100.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=636;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2067853;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2067853" target="_blank">rs2067853</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2067853" target="_blank">rs2067853</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230838258">View</a>	GT:AD:DP:GQ:PL:TP	0|0:199,0:199:99:0,598,7140:127	0|0:238,1:239:99:0,714,8564:127	0|1:103,95:198:99:2569,0,3458:127
1	230838331	.	G	T	6200.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=798;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7079" target="_blank">rs7079</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Steatohepatitis|_non-alcoholic|_association_with;hgmd_2014.2.OMIM_ID=106150;hgmd_2014.2.PubMed=21988197;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21988197" target="_blank">21988197</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=556;snpeff.Amino_Acid_Change=c.*556C>A;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=AGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGT" target="_blank">AGT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366667;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366667;SAVANT_GENE=AGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGT" target="_blank">AGT</a>;SAVANT_INFO=-/11.8kb/5/2.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*556C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGT+c.*556C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230838331">View</a>	GT:AD:DP:GQ:PL:TP	0|0:258,0:258:99:0,775,8654:127	0|0:295,0:295:99:0,886,10279:127	0|1:129,116:245:99:3119,0,3748:127
1	230841687	.	T	C	8227.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7080;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7080" target="_blank">rs7080</a>;ExAC.Info.AC=119649;ExAC.Info.AN=126704;ExAC.Info.AF=0.944;ExAC.Info.AC_Het=6506;ExAC.Info.AC_Hom=56543;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu372Leu/c.1116A>G;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=AGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGT" target="_blank">AGT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366667;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366667;SAVANT_GENE=AGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGT" target="_blank">AGT</a>;SAVANT_INFO=-/11.8kb/5/2.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1116A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGT+c.1116A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230841687">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,35:69:99:1015,0,975:127	0|0:105,0:105:99:0,316,3555:127	1|1:0,73:73:99:2533,219,0:127
1	230845794	.	A	G	21219.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=699" target="_blank">rs699</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hypertension|_association_with;hgmd_2014.2.OMIM_ID=106150;hgmd_2014.2.PubMed=1394429;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=1394429" target="_blank">1394429</a>;ExAC.Info.AC=69338;ExAC.Info.AN=126702;ExAC.Info.AF=0.547;ExAC.Info.AC_Het=27834;ExAC.Info.AC_Hom=20704;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000019691|RCV000019692|RCV000019693;Clinvar.PhenotypeIDs=|MedGen:C1862886;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met268Thr/c.803T>C;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=AGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGT" target="_blank">AGT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366667;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366667;SAVANT_GENE=AGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGT" target="_blank">AGT</a>;SAVANT_INFO=-/11.8kb/5/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.803T>C_p.Met268Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGT+c.803T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230845794">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019691%20OR%20RCV000019692%20OR%20RCV000019693" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	1|0:208,160:368:99:4173,0,5825:127	0|0:377,0:377:99:0,1132,13019:127	1|0:177,198:375:99:5113,0,5268:127
1	230849799	.	A	G	3115.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2148582;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2148582" target="_blank">rs2148582</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-99J16__A.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-4+33T>C;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=AGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366667;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366667;SAVANT_GENE=AGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGT" target="_blank">AGT</a>;SAVANT_INFO=-/11.8kb/5/2.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-3203T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGT+c.-3203T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230849799">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,26:63:99:683,0,994:127	0|0:75,0:75:99:0,225,2640:127	1|0:31,16:47:99:475,0,963:127
1	230849872	.	C	T	5236.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs5051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5051" target="_blank">rs5051</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Hypertension|_association_with;hgmd_2014.2.OMIM_ID=106150;hgmd_2014.2.PubMed=9120024;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=9120024" target="_blank">9120024</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-99J16__A.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3276;snpeff.Amino_Acid_Change=c.-44G>A;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=AGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366667;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366667;SAVANT_GENE=AGT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGT" target="_blank">AGT</a>;SAVANT_INFO=-/11.8kb/5/2.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-3276G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGT+c.-3276G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230849872">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,52:103:99:1328,0,1411:127	0|0:115,0:115:99:0,345,3864:127	1|0:47,27:74:99:780,0,1355:127
1	230883466	.	C	T	9588.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs12143120;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12143120" target="_blank">rs12143120</a>;ExAC.Info.AC=49095;ExAC.Info.AN=126690;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=29511;ExAC.Info.AC_Hom=9589;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-99J16__A.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.213+11C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271971;SAVANT_GENE=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;SAVANT_INFO=+/54.4kb/20/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.213+11C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN9+c.213+11C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230883466">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,41:76:99:1095,0,921:127	0|0:75,1:76:99:0,191,2524:127	1|1:0,78:78:99:2742,234,0:127
1	230883484	.	T	C	17319.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6690251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6690251" target="_blank">rs6690251</a>;ExAC.Info.AC=73705;ExAC.Info.AN=126680;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=28201;ExAC.Info.AC_Hom=22141;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-99J16__A.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.213+29T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271971;SAVANT_GENE=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;SAVANT_INFO=+/54.4kb/20/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.213+29T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN9+c.213+29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230883484">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2289,186,0:127	1|1:0,64:64:99:2547,192,0:127	1|1:0,54:54:99:2243,162,0:127
1	230898494	.	C	T	10729.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2282319;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282319" target="_blank">rs2282319</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=44005;ExAC.Info.AN=126702;ExAC.Info.AF=0.347;ExAC.Info.AC_Het=27735;ExAC.Info.AC_Hom=8091;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-99J16__A.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn166Asn/c.498C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271971;SAVANT_GENE=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;SAVANT_INFO=+/54.4kb/20/2.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.498C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN9+c.498C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230898494">View</a>	GT:AD:DP:GQ:PL:TP	1|0:64,46:110:99:1197,0,1745:127	0|0:123,0:123:99:0,369,4174:127	1|1:0,83:83:99:2813,249,0:127
1	230903350	.	T	C	5233.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3828126;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3828126" target="_blank">rs3828126</a>;ExAC.Info.AC=34254;ExAC.Info.AN=126704;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=24217;ExAC.Info.AC_Hom=5016;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-99J16__A.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr200Thr/c.600T>C;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271971;SAVANT_GENE=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;SAVANT_INFO=+/54.4kb/20/2.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.600T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN9+c.600T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230903350">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,19:42:99:523,0,731:127	0|0:57,0:57:99:0,171,2063:127	1|1:0,49:49:99:1742,147,0:127
1	230904911	.	C	T	3851.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11122593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11122593" target="_blank">rs11122593</a>;ExAC.Info.AC=31940;ExAC.Info.AN=126700;ExAC.Info.AF=0.252;ExAC.Info.AC_Het=22145;ExAC.Info.AC_Hom=4890;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-99J16__A.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.706-15C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Calpain_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-99J16__A2" target="_blank">RP11-99J16__A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271971;SAVANT_GENE=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;SAVANT_INFO=+/54.4kb/20/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.706-15C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN9+c.706-15C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230904911">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,22:34:99:611,0,392:89	0|0:45,1:46:97:0,97,1731:89	1|1:0,30:30:90:1166,90,0:89
1	230933898	.	C	T	2200.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2297831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297831" target="_blank">rs2297831</a>;ExAC.Info.AC=24847;ExAC.Info.AN=126686;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=18819;ExAC.Info.AC_Hom=3004;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1988-10C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1988C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1988C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1988C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1988C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1988C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1988C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1988C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Domain_IV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1988C>T;snpeff.Amino_Acid_length=690;snpeff.Gene_Name=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000271971;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000271971;SAVANT_GENE=CAPN9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPN9" target="_blank">CAPN9</a>;SAVANT_INFO=+/54.4kb/20/2.4kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1988-10C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPN9+c.1988-10C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:230933898">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2076:127	0|1:35,42:77:99:1119,0,1073:127	0|0:60,0:60:99:0,180,2198:127
1	231042732	.	T	A	16620.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3811502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811502" target="_blank">rs3811502</a>;ExAC.Info.AC=67553;ExAC.Info.AN=126678;ExAC.Info.AF=0.533;ExAC.Info.AC_Het=30467;ExAC.Info.AC_Hom=18374;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtT;snpeff.Amino_Acid_Change=p.Val834Val/c.2502A>T;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366661;SAVANT_GENE=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;SAVANT_INFO=-/72.6kb/23/3.3kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.2502A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC13+c.2502A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231042732">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,72:125:99:2020,0,1346:127	0|1:56,63:119:99:1764,0,1591:127	1|1:0,117:117:99:4168,352,0:127
1	231044410	.	C	T	16732.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=785;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72762647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72762647" target="_blank">rs72762647</a>;ExAC.Info.AC=260;ExAC.Info.AN=126688;ExAC.Info.AF=2.052e-03;ExAC.Info.AC_Het=248;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2468+48G>A;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366661;SAVANT_GENE=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;SAVANT_INFO=-/72.6kb/23/3.3kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2468+48G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC13+c.2468+48G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231044410">View</a>	GT:AD:DP:GQ:PL:TP	0|1:109,145:254:99:3692,0,3046:127	1|0:131,150:281:99:3988,0,3733:127	0|0:250,0:250:99:0,750,8801:127
1	231047310	.	TAC	T	5379.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10580953;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10580953" target="_blank">rs10580953</a>;ExAC.Info.AC=83856;ExAC.Info.AN=126282;ExAC.Info.AF=0.664;ExAC.Info.AC_Het=26964;ExAC.Info.AC_Hom=27046;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2230-17_2230-16delGT;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366661;SAVANT_GENE=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;SAVANT_INFO=-/72.6kb/23/3.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2230-17_2230-16delGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC13+c.2230-17_2230-16delGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231047310">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,24:39:99:938,0,592:84	0|1:22,15:37:99:559,0,930:84	1|1:0,28:28:84:1257,84,0:84
1	231057247	.	A	T	2967.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2275333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275333" target="_blank">rs2275333</a>;ExAC.Info.AC=24811;ExAC.Info.AN=126376;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=19204;ExAC.Info.AC_Hom=2679;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggA;snpeff.Amino_Acid_Change=p.Gly606Gly/c.1818T>A;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366661;SAVANT_GENE=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;SAVANT_INFO=-/72.6kb/23/3.3kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1818T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC13+c.1818T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231057247">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,29:47:99:835,0,510:127	1|0:27,21:48:99:621,0,710:127	0|0:52,0:52:99:0,156,1719:127
1	231060736	.	T	C	9439.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3748775;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748775" target="_blank">rs3748775</a>;ExAC.Info.AC=64791;ExAC.Info.AN=126696;ExAC.Info.AF=0.511;ExAC.Info.AC_Het=30537;ExAC.Info.AC_Hom=17118;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1589-17A>G;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366661;SAVANT_GENE=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;SAVANT_INFO=-/72.6kb/23/3.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1589-17A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC13+c.1589-17A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231060736">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,38:70:99:1148,0,853:127	0|1:32,35:67:99:1019,0,889:127	1|1:0,61:61:99:2262,183,0:127
1	231067236	.	C	T	12769.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11122624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11122624" target="_blank">rs11122624</a>;ExAC.Info.AC=64724;ExAC.Info.AN=126670;ExAC.Info.AF=0.511;ExAC.Info.AC_Het=30485;ExAC.Info.AC_Hom=17076;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1126-18G>A;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1126C>T;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1126C>T;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366661;SAVANT_GENE=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;SAVANT_INFO=-/72.6kb/23/3.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1126-18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC13+c.1126-18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231067236">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,54:104:99:1446,0,1340:127	0|1:59,47:106:99:1168,0,1744:127	1|1:0,103:103:99:3262,309,0:127
1	231092180	.	G	A	5265.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11122161;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11122161" target="_blank">rs11122161</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.442+1790C>T;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443G>A;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443G>A;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443G>A;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366661;SAVANT_GENE=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;SAVANT_INFO=-/72.6kb/23/3.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.442+1790C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC13+c.442+1790C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231092180">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,30:71:99:741,0,1126:127	1|0:44,48:92:99:1226,0,1293:127	0|0:85,0:85:99:0,255,2775:127
1	231092211	.	T	TG	5703.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs34436246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34436246" target="_blank">rs34436246</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.442+1759_442+1758insC;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443_444insG;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443_444insG;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.443_444insG;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366661;SAVANT_GENE=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;SAVANT_INFO=-/72.6kb/23/3.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.442+1758dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC13+c.442+1758dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231092211">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,33:72:99:978,0,1176:127	1|0:45,41:86:99:1190,0,1348:127	0|0:76,0:76:99:0,229,2720:127
1	231094050	.	GA	G	2587.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=157;MQ=70.03;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs60736833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60736833" target="_blank">rs60736833</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.367-6delT;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.367delT;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366661;SAVANT_GENE=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;SAVANT_INFO=-/72.6kb/23/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.367-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC13+c.367-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231094050">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,34:45:99:504,0,126:125	0/1:29,33:62:99:502,0,425:125	0/1:35,15:50:99:186,0,612:125
1	231114465	.	C	G	1267.04	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=43;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76376323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76376323" target="_blank">rs76376323</a>;cosmic68.Histology_subtype=serous_carcinoma;ExAC.Info.AC=5752;ExAC.Info.AN=30036;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=2400;ExAC.Info.AC_Hom=616;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Cgg;snpeff.Amino_Acid_Change=p.Gly38Arg/c.112G>C;snpeff.Amino_Acid_length=860;snpeff.Gene_Name=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366661;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366661;SAVANT_GENE=TTC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC13" target="_blank">TTC13</a>;SAVANT_INFO=-/72.6kb/23/3.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.112G>C_p.Gly38Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC13+c.112G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231114465">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,11:16:94:336,0,94:30	1|0:7,10:17:99:293,0,203:30	0|0:10,0:10:30:0,30,370:30
1	231124055	.	T	C	5813.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10779804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10779804" target="_blank">rs10779804</a>;ExAC.Info.AC=45355;ExAC.Info.AN=126668;ExAC.Info.AF=0.358;ExAC.Info.AC_Het=27920;ExAC.Info.AC_Hom=8701;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133-11T>C;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=ARV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARV1" target="_blank">ARV1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435927;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000310256;SAVANT_GENE=ARV1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARV1" target="_blank">ARV1</a>;SAVANT_INFO=+/21.5kb/6/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.175-11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARV1+c.175-11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231124055">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,44:94:99:1255,0,1302:127	1|0:35,46:81:99:1355,0,967:127	0|0:87,0:87:99:0,261,2948:127
1	231161817	.	T	TA	713.98	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=58;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs35151430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35151430" target="_blank">rs35151430</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.292-5945_292-5946insT;snpeff.Amino_Acid_length=184;snpeff.Gene_Name=FAM89A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM89A" target="_blank">FAM89A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366654;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366654;SAVANT_GENE=FAM89A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM89A" target="_blank">FAM89A</a>;SAVANT_INFO=-/21.3kb/2/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.292-5946dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM89A+c.292-5946dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231161817">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,11:28:77:77,0,174:45	0/1:10,11:21:88:123,0,88:45	0/1:5,4:9:46:46,0,72:45
1	231353589	.	A	G	2152.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs4658907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4658907" target="_blank">rs4658907</a>;ExAC.Info.AC=4491;ExAC.Info.AN=18782;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=2772;ExAC.Info.AC_Hom=594;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM67" target="_blank">TRIM67</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM67" target="_blank">TRIM67</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM67+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231353589">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,7:26:99:144,0,552:127	0|0:47,0:47:99:0,141,1563:127	1|0:15,14:29:99:435,0,425:127
1	231376806	.	G	C	7310.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Chondrodysplasia_punctata|_rhizomelic|_type_2|_222765_(3)|Chondrodysplasia_punctata|_rhizomelic|_type_2|_222765_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2274067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274067" target="_blank">rs2274067</a>;ExAC.Info.AC=12823;ExAC.Info.AN=126704;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=11281;ExAC.Info.AC_Hom=771;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Gtt;snpeff.Amino_Acid_Change=p.Leu28Val/c.82C>G;snpeff.Amino_Acid_length=293;snpeff.Gene_Name=C1orf131;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf131" target="_blank">C1orf131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366649;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366649;SAVANT_GENE=C1orf131;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf131" target="_blank">C1orf131</a>;SAVANT_INFO=-/17.4kb/7/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.82C>G_p.Leu28Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf131+c.82C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231376806">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,36:94:99:1024,0,1645:127	0|0:136,0:136:99:0,409,4741:127	1|0:91,49:140:99:1322,0,2640:127
1	231377081	.	C	T	8865.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Chondrodysplasia_punctata|_rhizomelic|_type_2|_222765_(3)|Chondrodysplasia_punctata|_rhizomelic|_type_2|_222765_(3);dbSNP139.ID=rs518686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=518686" target="_blank">rs518686</a>;ExAC.Info.AC=69289;ExAC.Info.AN=126704;ExAC.Info.AF=0.547;ExAC.Info.AC_Het=30765;ExAC.Info.AC_Hom=19226;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=44;snpeff.Amino_Acid_Change=c.-44C>T;snpeff.Amino_Acid_length=680;snpeff.Gene_Name=GNPAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNPAT" target="_blank">GNPAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366647;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366647;SAVANT_GENE=GNPAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNPAT" target="_blank">GNPAT</a>;SAVANT_INFO=+/36.8kb/16/2.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNPAT+c.-44C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231377081">View</a>	GT:AD:DP:GQ:PL:TP	0/1:40,41:81:99:1047,0,1140:127	0/1:63,65:128:99:1764,0,1876:127	0/1:49,34:83:99:928,0,1393:127
1	231401204	.	T	C	13709.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=416;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Chondrodysplasia_punctata|_rhizomelic|_type_2|_222765_(3)|Chondrodysplasia_punctata|_rhizomelic|_type_2|_222765_(3);dbSNP139.ID=rs6702011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702011" target="_blank">rs6702011</a>;ExAC.Info.AC=34222;ExAC.Info.AN=126696;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=24574;ExAC.Info.AC_Hom=4815;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.696+38T>C;snpeff.Amino_Acid_length=680;snpeff.Gene_Name=GNPAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNPAT" target="_blank">GNPAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366647;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366647;SAVANT_GENE=GNPAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNPAT" target="_blank">GNPAT</a>;SAVANT_INFO=+/36.8kb/16/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.696+38T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNPAT+c.696+38T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231401204">View</a>	GT:AD:DP:GQ:PL:TP	0/1:67,49:116:99:1646,0,2128:127	0/1:85,70:155:99:2304,0,2666:127	0/1:71,74:145:99:2420,0,2039:127
1	231401902	.	G	A	12534.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Chondrodysplasia_punctata|_rhizomelic|_type_2|_222765_(3)|Chondrodysplasia_punctata|_rhizomelic|_type_2|_222765_(3);dbSNP139.ID=rs574553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=574553" target="_blank">rs574553</a>;ExAC.Info.AC=71642;ExAC.Info.AN=126704;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=30406;ExAC.Info.AC_Hom=20603;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu305Glu/c.915G>A;snpeff.Amino_Acid_length=680;snpeff.Gene_Name=GNPAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNPAT" target="_blank">GNPAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366647;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366647;SAVANT_GENE=GNPAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNPAT" target="_blank">GNPAT</a>;SAVANT_INFO=+/36.8kb/16/2.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.915G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNPAT+c.915G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231401902">View</a>	GT:AD:DP:GQ:PL:TP	0/1:72,54:126:99:1503,0,2201:127	0/1:60,75:135:99:2201,0,1959:127	0/1:46,77:123:99:2212,0,1421:127
1	231480507	.	A	G	4418.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1009227;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1009227" target="_blank">rs1009227</a>;ExAC.Info.AC=11039;ExAC.Info.AN=18866;ExAC.Info.AF=0.585;ExAC.Info.AC_Het=3676;ExAC.Info.AC_Hom=2905;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.322-3036A>G;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=SPRTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRTN" target="_blank">SPRTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295050;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SprT-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.322A>G;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=SPRTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRTN" target="_blank">SPRTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295050;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SprT-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.322A>G;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=SPRTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRTN" target="_blank">SPRTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295050;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SprT-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.322A>G;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=SPRTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRTN" target="_blank">SPRTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295050;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SprT-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.322A>G;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=SPRTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRTN" target="_blank">SPRTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295050;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295050;SAVANT_GENE=C1orf124;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf124" target="_blank">C1orf124</a>;SAVANT_INFO=+/17.0kb/5/3.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.322-3036A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf124+c.322-3036A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231480507">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,19:33:99:495,0,356:87	1|1:0,29:29:87:1104,87,0:87	0|1:13,16:29:99:512,0,311:87
1	231487017	.	T	C	4571.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2474634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2474634" target="_blank">rs2474634</a>;ExAC.Info.AC=76494;ExAC.Info.AN=126486;ExAC.Info.AF=0.605;ExAC.Info.AC_Het=27944;ExAC.Info.AC_Hom=22870;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.451-33T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=SPRTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRTN" target="_blank">SPRTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295050;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SprT-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=SPRTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRTN" target="_blank">SPRTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295050;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SprT-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=SPRTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRTN" target="_blank">SPRTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295050;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SprT-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=SPRTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRTN" target="_blank">SPRTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295050;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SprT-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=SPRTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRTN" target="_blank">SPRTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295050;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295050;SAVANT_GENE=C1orf124;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf124" target="_blank">C1orf124</a>;SAVANT_INFO=+/17.0kb/5/3.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.451-33T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf124+c.451-33T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231487017">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,11:29:99:362,0,536:103	1|1:1,46:47:99:1675,103,0:103	0|1:9,6:15:99:191,0,313:103
1	231488524	.	C	T	20707.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2437150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2437150" target="_blank">rs2437150</a>;ExAC.Info.AC=75974;ExAC.Info.AN=126696;ExAC.Info.AF=0.600;ExAC.Info.AC_Het=29647;ExAC.Info.AC_Hom=23077;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro296Leu/c.887C>T;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=SPRTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRTN" target="_blank">SPRTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000295050;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000295050;SAVANT_GENE=C1orf124;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf124" target="_blank">C1orf124</a>;SAVANT_INFO=+/17.0kb/5/3.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.887C>T_p.Pro296Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf124+c.887C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231488524">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,47:118:99:1299,0,2371:127	1|1:0,157:157:99:5778,472,0:127	0|1:79,73:152:99:2227,0,2584:127
1	231502244	.	AT	A	16.52	LowQual	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Erythrocytosis|_familial|_3|_609820_(3);dbSNP139.ID=rs371204614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371204614" target="_blank">rs371204614</a>;ExAC.Info.AC=27288;ExAC.Info.AN=126430;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=27090;ExAC.Info.AC_Hom=16;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1217-24delA;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=EGLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EGLN1" target="_blank">EGLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366641;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366641;SAVANT_GENE=EGLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EGLN1" target="_blank">EGLN1</a>;SAVANT_INFO=-/61.3kb/5/7.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1217-24delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EGLN1+c.1217-24delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231502244">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,1:46:99:0,112,1397:5	0|1:51,7:58:4:4,0,1057:5	0|1:42,6:48:27:27,0,1072:5
1	231502245	.	T	A	3485.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Erythrocytosis|_familial|_3|_609820_(3);dbSNP139.ID=rs1435167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1435167" target="_blank">rs1435167</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1217-24A>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=EGLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EGLN1" target="_blank">EGLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366641;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366641;SAVANT_GENE=EGLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EGLN1" target="_blank">EGLN1</a>;SAVANT_INFO=-/61.3kb/5/7.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1217-24A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EGLN1+c.1217-24A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231502245">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,13:50:99:204,0,1148:62	0/1:9,49:58:62:1016,0,62:62	0/1:30,21:51:99:382,0,747:62
1	231502310	.	T	C	5272.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Erythrocytosis|_familial|_3|_609820_(3);dbSNP139.ID=rs1435166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1435166" target="_blank">rs1435166</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1217-89A>G;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=EGLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EGLN1" target="_blank">EGLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366641;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366641;SAVANT_GENE=EGLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EGLN1" target="_blank">EGLN1</a>;SAVANT_INFO=-/61.3kb/5/7.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1217-89A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EGLN1+c.1217-89A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231502310">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,16:32:99:383,0,470:127	1|1:0,44:44:99:1576,132,0:127	0|1:10,19:29:99:597,0,324:127
1	231664607	.	C	T	1074.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41303127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41303127" target="_blank">rs41303127</a>;ExAC.Info.AC=30271;ExAC.Info.AN=126704;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=21445;ExAC.Info.AC_Hom=4367;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.16+35C>T;snpeff.Gene_Name=TSNAX-DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602956;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.16+35C>T;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=TSNAX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366639;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366639;SAVANT_GENE=TSNAX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX" target="_blank">TSNAX</a>;SAVANT_INFO=+/38.0kb/6/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.16+35C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSNAX+c.16+35C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231664607">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2301:127	0|0:55,0:55:99:0,165,1899:127	0|1:31,19:50:99:556,0,814:127
1	231830295	.	G	A	11933.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3738401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738401" target="_blank">rs3738401</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Schizophrenia|_ultra-resistant|_association_with;hgmd_2014.2.OMIM_ID=605210;hgmd_2014.2.PubMed=20531374;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20531374" target="_blank">20531374</a>;ExAC.Info.AC=36937;ExAC.Info.AN=126702;ExAC.Info.AF=0.292;ExAC.Info.AC_Het=25570;ExAC.Info.AC_Hom=5660;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=652;snpeff.Amino_Acid_Change=n.*652G>A;snpeff.Gene_Name=TSNAX-DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg264Gln/c.791G>A;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366633;SAVANT_GENE=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=+/228.6kb/10/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.791G>A_p.Arg264Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+c.791G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231830295">View</a>	GT:AD:DP:GQ:PL:TP	0/1:50,62:112:99:1754,0,1332:127	0/1:66,53:119:99:1611,0,1897:127	0/1:50,53:103:99:1631,0,1459:127
1	231903010	.	C	T	2590.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3738402;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738402" target="_blank">rs3738402</a>;ExAC.Info.AC=8841;ExAC.Info.AN=126704;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=7498;ExAC.Info.AC_Hom=664;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=73367;snpeff.Amino_Acid_Change=n.*1254C>T;snpeff.Gene_Name=TSNAX-DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cta/Tta;snpeff.Amino_Acid_Change=p.Leu465Leu/c.1393C>T;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366633;SAVANT_GENE=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=+/228.6kb/10/2.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1393C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+c.1393C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231903010">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,247,3160:127	0|1:52,47:99:99:1314,0,1600:127	0|0:102,0:102:99:0,307,4064:127
1	231906847	.	C	T	9766.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=799;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs16854940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16854940" target="_blank">rs16854940</a>;ExAC.Info.AC=6380;ExAC.Info.AN=121032;ExAC.Info.AF=0.053;ExAC.Info.AC_Het=2286;ExAC.Info.AC_Hom=157;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1495+31C>T;snpeff.Gene_Name=TSNAX-DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1634+31C>T;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366633;SAVANT_GENE=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=+/228.6kb/10/2.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1634+31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+c.1634+31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231906847">View</a>	GT:AD:DP:GQ:PL:TP	0|0:238,0:238:99:0,714,7900:127	0|1:152,173:325:99:4902,0,4197:127	0|0:235,1:236:99:0,699,7967:127
1	231931048	.	T	C	1968.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2273890;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273890" target="_blank">rs2273890</a>;ExAC.Info.AC=14710;ExAC.Info.AN=126680;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=12748;ExAC.Info.AC_Hom=951;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1550+6T>C;snpeff.Gene_Name=TSNAX-DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602956;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1689+6T>C;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.2118T>C;snpeff.Gene_Name=TSNAX-DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602956;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690T>C;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366633;SAVANT_GENE=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=+/228.6kb/10/2.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1689+6T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+c.1689+6T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231931048">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1917:108	0|1:26,30:56:99:1003,0,769:108	0|0:36,0:36:99:0,108,1217:108
1	231936016	.	A	G	29281.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2759354;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2759354" target="_blank">rs2759354</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1653+60A>G;snpeff.Gene_Name=TSNAX-DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602956;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1792+60A>G;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366633;SAVANT_GENE=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=+/228.6kb/10/2.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1792+60A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+c.1792+60A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231936016">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3985,319,0:127	1|1:0,111:111:99:4247,334,0:127	1|1:0,119:119:99:4474,358,0:127
1	231954101	.	C	T	29274.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=749;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D|D|D|D|D|D|D|D|D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6675281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6675281" target="_blank">rs6675281</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Psychiatric_disorders|_association_with;hgmd_2014.2.OMIM_ID=605210;hgmd_2014.2.PubMed=15386212;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15386212" target="_blank">15386212</a>;ExAC.Info.AC=14657;ExAC.Info.AN=126704;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=12516;ExAC.Info.AC_Hom=1070;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=124458;snpeff.Amino_Acid_Change=n.*1680C>T;snpeff.Gene_Name=TSNAX-DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602956;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu607Phe/c.1819C>T;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSNAX-DISC1" target="_blank">TSNAX-DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366633;SAVANT_GENE=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=+/228.6kb/10/2.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1819C>T_p.Leu607Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+c.1819C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231954101">View</a>	GT:AD:DP:GQ:PL:TP	0|1:120,109:229:99:3025,0,3544:127	1|1:0,294:294:99:10724,884,0:127	0|0:226,0:226:99:0,679,8277:127
1	231954427	.	C	T	14943.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=729;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1535530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1535530" target="_blank">rs1535530</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1981+164C>T;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=124784;snpeff.Amino_Acid_Change=n.*2006C>T;snpeff.Gene_Name=TSNAX-DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602956;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366633;SAVANT_GENE=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=+/228.6kb/10/2.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1981+164C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+c.1981+164C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231954427">View</a>	GT:AD:DP:GQ:PL:TP	1|0:102,97:199:99:2818,0,2787:127	0|0:284,0:284:99:0,832,9683:127	1|0:129,117:246:99:3568,0,3743:127
1	231954872	.	C	T	387.04	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=20;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11588937;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11588937" target="_blank">rs11588937</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1981+609C>T;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=125229;snpeff.Amino_Acid_Change=n.*2451C>T;snpeff.Gene_Name=TSNAX-DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602956;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366633;SAVANT_GENE=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=+/228.6kb/10/2.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1981+609C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+c.1981+609C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231954872">View</a>	GT:AD:DP:GQ:PL:TP	1|0:2,2:4:60:60,0,72:24	0|0:12,0:12:36:0,36,387:24	1|0:1,3:4:25:100,0,25:24
1	231956086	.	A	T	9687.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs11122343;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11122343" target="_blank">rs11122343</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1981+1823A>T;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366633;SAVANT_GENE=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=+/228.6kb/10/2.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1981+1823A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+c.1981+1823A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231956086">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1676,147,0:127	1|1:1,54:55:99:1800,155,0:127	1|0:37,23:60:99:600,0,1035:127
1	231990464	.	CTT	C	2714.74	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.667;AN=3;DP=102;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1981+36202_1981+36203delTT;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366633;SAVANT_GENE=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=+/228.6kb/10/2.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1982-5_1982-4delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+c.1982-5_1982-4delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231990464">View</a>	GT:AD:DP:GQ:PL	./1:7,7:26:19:292,143,398	./0:16,9:51:99:566,384,889	./1:3,12:25:99:476,140,198
1	231990464	.	CTT	CT	2714.74	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=102;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1981+36203delT;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366633;SAVANT_GENE=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=+/228.6kb/10/2.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1982-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+c.1982-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:231990464">View</a>	GT:AD:DP:GQ:PL	./1:7,12:26:19:292,19,66	0/1:16,26:51:99:566,0,186	./1:3,10:25:99:476,197,194
1	232094729	.	G	A	3562.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=447;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2794273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794273" target="_blank">rs2794273</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2042+95G>A;snpeff.Amino_Acid_length=854;snpeff.Gene_Name=DISC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439617;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DISC1" target="_blank">DISC1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DISC1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232094729">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,384,4325:127	0|0:177,0:177:99:0,532,6578:127	0|1:78,64:142:99:1800,0,2519:127
1	232534957	.	T	C	5259.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12043251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12043251" target="_blank">rs12043251</a>;ExAC.Info.AC=42174;ExAC.Info.AN=125988;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=24820;ExAC.Info.AC_Hom=8464;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5085T>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5085T>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg1695Arg/c.5085A>G;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.5085A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.5085A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232534957">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,32:81:99:847,0,1341:127	0|0:118,0:118:99:0,355,3961:127	1|0:23,22:45:99:629,0,701:127
1	232535030	.	C	T	23323.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs629939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=629939" target="_blank">rs629939</a>;ExAC.Info.AC=125051;ExAC.Info.AN=125602;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=541;ExAC.Info.AC_Hom=61949;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5023-11G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5023C>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5023C>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.5023-11G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.5023-11G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232535030">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3015,288,0:127	1|1:0,127:127:99:4382,382,0:127	1|1:0,62:62:99:2070,186,0:127
1	232538234	.	T	G	7388.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17177525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17177525" target="_blank">rs17177525</a>;ExAC.Info.AC=18800;ExAC.Info.AN=125164;ExAC.Info.AF=0.150;ExAC.Info.AC_Het=15369;ExAC.Info.AC_Hom=1658;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4941-15A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.4941-15A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.4941-15A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232538234">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,36:86:99:1130,0,1364:127	1|0:52,59:111:99:1709,0,1426:127	0|0:91,0:91:99:0,274,3162:127
1	232551416	.	G	A	4804.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=69.81;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12569188;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12569188" target="_blank">rs12569188</a>;ExAC.Info.AC=45320;ExAC.Info.AN=126120;ExAC.Info.AF=0.359;ExAC.Info.AC_Het=28190;ExAC.Info.AC_Hom=8392;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4631-45C>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.4631-45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.4631-45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232551416">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,25:53:99:699,0,781:127	0/1:32,26:58:99:720,0,949:127	0/1:26,14:40:99:388,0,802:127
1	232561396	.	T	C	2235.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41271519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41271519" target="_blank">rs41271519</a>;ExAC.Info.AC=1059;ExAC.Info.AN=126586;ExAC.Info.AF=8.366e-03;ExAC.Info.AC_Het=1028;ExAC.Info.AC_Hom=10;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro1523Pro/c.4569A>G;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.4569A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.4569A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232561396">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,11:22:99:389,0,306:50	1|0:20,12:32:99:391,0,564:50	0|0:17,0:17:50:0,50,561:50
1	232564297	.	T	A	3471.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3210731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3210731" target="_blank">rs3210731</a>;ExAC.Info.AC=18827;ExAC.Info.AN=125226;ExAC.Info.AF=0.150;ExAC.Info.AC_Het=15405;ExAC.Info.AC_Hom=1662;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Ttg;snpeff.Amino_Acid_Change=p.Met1424Leu/c.4270A>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.4270A>T_p.Met1424Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.4270A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232564297">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,27:59:99:700,0,890:127	1|0:38,20:58:99:483,0,1046:127	0|0:67,0:67:99:0,201,2161:127
1	232574921	.	T	C	12963.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275307;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275307" target="_blank">rs2275307</a>;ExAC.Info.AC=34795;ExAC.Info.AN=125258;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=23518;ExAC.Info.AC_Hom=5369;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3964T>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3964T>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr1322Ala/c.3964A>G;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.3964A>G_p.Thr1322Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.3964A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232574921">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2454,216,0:127	1|0:48,48:96:99:1324,0,1370:127	1|0:41,29:70:99:833,0,1224:127
1	232581436	.	G	A	4711.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12757779;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12757779" target="_blank">rs12757779</a>;ExAC.Info.AC=19820;ExAC.Info.AN=125246;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=15989;ExAC.Info.AC_Hom=1895;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr1064Thr/c.3192C>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.3192C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.3192C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232581436">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:975,84,0:84	1|0:25,14:39:99:381,0,862:84	1|0:20,12:32:99:300,0,669:84
1	232596728	.	G	A	2634.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs74807360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74807360" target="_blank">rs74807360</a>;ExAC.Info.AC=6745;ExAC.Info.AN=126688;ExAC.Info.AF=0.053;ExAC.Info.AC_Het=6189;ExAC.Info.AC_Hom=268;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala1000Ala/c.3000C>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.3000C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.3000C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232596728">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,292,3545:127	0|0:110,0:110:99:0,330,4106:127	0|1:35,45:80:99:1336,0,1041:127
1	232597987	.	T	A	23322.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=461;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12142629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12142629" target="_blank">rs12142629</a>;ExAC.Info.AC=3243;ExAC.Info.AN=22770;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=2460;ExAC.Info.AC_Hom=274;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2821-1080A>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.2821-1080A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.2821-1080A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232597987">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:4508,409,0:127	1|0:92,91:183:99:2464,0,2619:127	1|0:75,67:142:99:1860,0,2092:127
1	232650750	.	A	G	34881.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=426;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3795366;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795366" target="_blank">rs3795366</a>;ExAC.Info.AC=109089;ExAC.Info.AN=125284;ExAC.Info.AF=0.871;ExAC.Info.AC_Het=11965;ExAC.Info.AC_Hom=48479;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser112Ser/c.336T>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.336T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.336T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232650750">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4616,399,0:127	1|1:0,180:180:99:6296,544,0:127	1|1:0,113:113:99:4091,340,0:127
1	232650867	.	C	T	30342.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4649383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4649383" target="_blank">rs4649383</a>;ExAC.Info.AC=86095;ExAC.Info.AN=125192;ExAC.Info.AF=0.688;ExAC.Info.AC_Het=23704;ExAC.Info.AC_Hom=31152;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys73Lys/c.219G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000262861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366630;SAVANT_GENE=SIPA1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIPA1L2" target="_blank">SIPA1L2</a>;SAVANT_INFO=-/163.6kb/22/6.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.219G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIPA1L2+c.219G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232650867">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4576,376,0:127	1|1:0,155:155:99:5882,466,0:127	1|0:74,65:139:99:2045,0,2649:127
1	232940953	.	T	C	2176.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10797593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10797593" target="_blank">rs10797593</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=8955;ExAC.Info.AN=125062;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=8008;ExAC.Info.AC_Hom=471;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Cca;snpeff.Amino_Acid_Change=p.Ser62Pro/c.184T>C;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=MAP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP10" target="_blank">MAP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418460;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418460;SAVANT_GENE=KIAA1383;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1383" target="_blank">KIAA1383</a>;SAVANT_INFO=+/5.5kb/1/5.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.184T>C_p.Ser62Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1383+c.184T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232940953">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,264,2933:127	0|0:125,0:125:99:0,375,4355:127	0|1:44,37:81:99:1107,0,1337:127
1	232941153	.	C	T	9973.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs12409898;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12409898" target="_blank">rs12409898</a>;ExAC.Info.AC=80744;ExAC.Info.AN=124846;ExAC.Info.AF=0.647;ExAC.Info.AC_Het=25216;ExAC.Info.AC_Hom=27129;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe128Phe/c.384C>T;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=MAP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP10" target="_blank">MAP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418460;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418460;SAVANT_GENE=KIAA1383;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1383" target="_blank">KIAA1383</a>;SAVANT_INFO=+/5.5kb/1/5.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.384C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1383+c.384C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232941153">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1400,123,0:123	1|1:0,57:57:99:2074,171,0:123	1|0:27,21:48:99:657,0,818:123
1	232941215	.	A	G	1618.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41271527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41271527" target="_blank">rs41271527</a>;ExAC.Info.AC=5753;ExAC.Info.AN=124390;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=4610;ExAC.Info.AC_Hom=148;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu149Gly/c.446A>G;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=MAP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP10" target="_blank">MAP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418460;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418460;SAVANT_GENE=KIAA1383;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1383" target="_blank">KIAA1383</a>;SAVANT_INFO=+/5.5kb/1/5.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.446A>G_p.Glu149Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1383+c.446A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232941215">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1421:127	0|0:57,0:57:99:0,170,1900:127	0|1:17,28:45:99:828,0,473:127
1	232941677	.	G	T	1874.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3766497;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766497" target="_blank">rs3766497</a>;ExAC.Info.AC=9091;ExAC.Info.AN=125040;ExAC.Info.AF=0.073;ExAC.Info.AC_Het=7667;ExAC.Info.AC_Hom=478;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cTt;snpeff.Amino_Acid_Change=p.Arg303Leu/c.908G>T;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=MAP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP10" target="_blank">MAP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418460;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418460;SAVANT_GENE=KIAA1383;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1383" target="_blank">KIAA1383</a>;SAVANT_INFO=+/5.5kb/1/5.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.908G>T_p.Arg303Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1383+c.908G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232941677">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,3018:127	0|0:72,0:72:99:0,216,2401:127	0|1:30,33:63:99:956,0,793:127
1	232942251	.	A	G	5858.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=719;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12048236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12048236" target="_blank">rs12048236</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=9263;ExAC.Info.AN=124988;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=8141;ExAC.Info.AC_Hom=545;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu494Leu/c.1482A>G;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=MAP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP10" target="_blank">MAP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418460;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418460;SAVANT_GENE=KIAA1383;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1383" target="_blank">KIAA1383</a>;SAVANT_INFO=+/5.5kb/1/5.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1482A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1383+c.1482A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:232942251">View</a>	GT:AD:DP:GQ:PL:TP	0|0:216,0:216:99:0,649,6936:127	0|0:288,2:290:99:0,822,9584:127	0|1:113,100:213:99:2948,0,3214:127
1	233086456	.	T	C	2675.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs13381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13381" target="_blank">rs13381</a>;ExAC.Info.AC=27770;ExAC.Info.AN=126612;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=20887;ExAC.Info.AC_Hom=3140;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Amino_Acid_Change=c.-1T>C;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=NTPCR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTPCR" target="_blank">NTPCR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366628;SAVANT_GENE=NTPCR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTPCR" target="_blank">NTPCR</a>;SAVANT_INFO=+/28.2kb/5/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-1T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTPCR+c.-1T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233086456">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,5:16:99:162,0,296:66	1|0:13,24:37:99:787,0,367:66	0|0:22,0:22:66:0,66,804:66
1	233091463	.	T	A	466.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12725558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12725558" target="_blank">rs12725558</a>;ExAC.Info.AC=16841;ExAC.Info.AN=126702;ExAC.Info.AF=0.133;ExAC.Info.AC_Het=14366;ExAC.Info.AC_Hom=1234;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtA;snpeff.Amino_Acid_Change=p.Val65Val/c.195T>A;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=NTPCR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTPCR" target="_blank">NTPCR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366627;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.195T>A;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=NTPCR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTPCR" target="_blank">NTPCR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366627;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366628;SAVANT_GENE=NTPCR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTPCR" target="_blank">NTPCR</a>;SAVANT_INFO=+/28.2kb/5/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.195T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTPCR+c.195T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233091463">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1074:98	0|1:17,8:25:99:252,0,521:98	0|0:33,0:33:99:0,99,1145:98
1	233113827	.	G	T	3099.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1045158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1045158" target="_blank">rs1045158</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NTPCR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTPCR" target="_blank">NTPCR</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366628;SAVANT_GENE=NTPCR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTPCR" target="_blank">NTPCR</a>;SAVANT_INFO=+/28.2kb/5/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.505-82G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NTPCR+c.505-82G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233113827">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,14:35:99:424,0,662:81	1|0:20,21:41:99:696,0,563:81	0|0:27,0:27:81:0,81,1013:81
1	233121791	.	G	A	1970.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12038915;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12038915" target="_blank">rs12038915</a>;ExAC.Info.AC=9648;ExAC.Info.AN=87504;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=3440;ExAC.Info.AC_Hom=455;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6240+47C>T;snpeff.Amino_Acid_length=2137;snpeff.Gene_Name=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258229;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258229;SAVANT_GENE=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;SAVANT_INFO=-/311.6kb/34/6.8kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.6240+47C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCNXL2+c.6240+47C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233121791">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,16:38:99:432,0,660:69	1|0:17,12:29:99:333,0,501:69	0|0:23,0:23:69:0,69,906:69
1	233122127	.	C	T	4569.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41309639;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41309639" target="_blank">rs41309639</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=23407;ExAC.Info.AN=124674;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=16270;ExAC.Info.AC_Hom=1970;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5951C>T;snpeff.Amino_Acid_length=2137;snpeff.Gene_Name=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258229;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg1984Gln/c.5951G>A;snpeff.Amino_Acid_length=2137;snpeff.Gene_Name=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258229;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258229;SAVANT_GENE=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;SAVANT_INFO=-/311.6kb/34/6.8kb;SAVANT_LOC=Ex33;SAVANT_HGVS=c.5951G>A_p.Arg1984Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCNXL2+c.5951G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233122127">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,27:43:99:839,0,346:127	1|0:25,24:49:99:661,0,736:127	0|0:43,0:43:99:0,129,1488:127
1	233134086	.	C	T	6881.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56231757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56231757" target="_blank">rs56231757</a>;ExAC.Info.AC=24529;ExAC.Info.AN=125288;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=19456;ExAC.Info.AC_Hom=2502;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser1901Asn/c.5702G>A;snpeff.Amino_Acid_length=2137;snpeff.Gene_Name=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258229;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258229;SAVANT_GENE=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;SAVANT_INFO=-/311.6kb/34/6.8kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.5702G>A_p.Ser1901Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCNXL2+c.5702G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233134086">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,26:55:99:746,0,876:127	1|1:0,70:70:99:2489,210,0:127	0|0:50,0:50:99:0,150,1791:127
1	233152910	.	A	AAAAGCAAGATTTTGAGTCCTCACAGCTATTCT	3183.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=58;MQ=70.14;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11271054;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11271054" target="_blank">rs11271054</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4606-10_4606-11insAGAATAGCTGTGAGGACTCAAAATCTTGCTTT;snpeff.Amino_Acid_length=2137;snpeff.Gene_Name=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258229;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000258229;SAVANT_GENE=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;SAVANT_INFO=-/311.6kb/34/6.8kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.4606-11_4606-10insAGAATAGCTGTGAGGACTCAAAATCTTGCTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCNXL2+c.4606-11_4606-10insAGAATAGCTGTGAGGACTCAAAATCTTGCTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233152910">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,8:17:99:297,0,1337:55	1|1:0,23:23:67:1028,67,0:55	0|0:18,0:18:56:0,56,2820:55
1	233225848	.	T	C	9203.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12059884;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12059884" target="_blank">rs12059884</a>;ExAC.Info.AC=12889;ExAC.Info.AN=124888;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=10824;ExAC.Info.AC_Hom=1028;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr1345Thr/c.4035A>G;snpeff.Amino_Acid_length=2137;snpeff.Gene_Name=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258229;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258229;SAVANT_GENE=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;SAVANT_INFO=-/311.6kb/34/6.8kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.4035A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCNXL2+c.4035A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233225848">View</a>	GT:AD:DP:GQ:PL:TP	0|1:76,62:138:99:1634,0,2126:127	1|0:80,73:153:99:2076,0,2168:127	0|0:149,0:149:99:0,448,5039:127
1	233336044	.	T	A	2042.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12024129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12024129" target="_blank">rs12024129</a>;ExAC.Info.AC=14707;ExAC.Info.AN=101900;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=3879;ExAC.Info.AC_Hom=577;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2864-34A>T;snpeff.Amino_Acid_length=2137;snpeff.Gene_Name=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258229;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2864T>A;snpeff.Amino_Acid_length=2137;snpeff.Gene_Name=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258229;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2864T>A;snpeff.Amino_Acid_length=2137;snpeff.Gene_Name=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000258229;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000258229;SAVANT_GENE=PCNXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCNXL2" target="_blank">PCNXL2</a>;SAVANT_INFO=-/311.6kb/34/6.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2864-34A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCNXL2+c.2864-34A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233336044">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,280,3294:127	0|0:91,0:91:99:0,273,3226:127	0|1:25,31:56:99:1040,0,765:127
1	233489529	.	G	A	1344.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7549137;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7549137" target="_blank">rs7549137</a>;ExAC.Info.AC=55612;ExAC.Info.AN=126394;ExAC.Info.AF=0.440;ExAC.Info.AC_Het=28321;ExAC.Info.AC_Hom=12333;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.987-24G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.987G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366624;SAVANT_GENE=RP5-862P8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-862P82" target="_blank">RP5-862P82</a>;SAVANT_INFO=+/57.4kb/10/5.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.987-24G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-862P82+c.987-24G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233489529">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,8:18:99:242,0,305:51	0|0:17,0:17:51:0,51,606:51	1|0:12,8:20:99:228,0,402:51
1	233489707	.	G	T	3019.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7551511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7551511" target="_blank">rs7551511</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=55625;ExAC.Info.AN=103454;ExAC.Info.AF=0.538;ExAC.Info.AC_Het=29927;ExAC.Info.AC_Hom=11949;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1135+6G>T;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136G>T;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136G>T;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136G>T;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136G>T;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136G>T;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366624;SAVANT_GENE=RP5-862P8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-862P82" target="_blank">RP5-862P82</a>;SAVANT_INFO=+/57.4kb/10/5.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1135+6G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-862P82+c.1135+6G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233489707">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,34:63:99:881,0,877:127	0|0:88,0:88:99:0,264,3072:127	1|0:43,20:63:99:502,0,1332:127
1	233490536	.	A	AATGTCTTGGGGATAATCTG	6692.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs137943316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=137943316" target="_blank">rs137943316</a>;ExAC.Info.AC=55452;ExAC.Info.AN=126634;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=30518;ExAC.Info.AC_Hom=12207;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1136-45_1136-44insATGTCTTGGGGATAATCTG;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136_1137insATGTCTTGGGGATAATCTG;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136_1137insATGTCTTGGGGATAATCTG;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136_1137insATGTCTTGGGGATAATCTG;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136_1137insATGTCTTGGGGATAATCTG;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366624;SAVANT_GENE=RP5-862P8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-862P82" target="_blank">RP5-862P82</a>;SAVANT_INFO=+/57.4kb/10/5.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1136-45_1136-44insTGTCTTGGGGATAATCTGA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-862P82+c.1136-45_1136-44insTGTCTTGGGGATAATCTGA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233490536">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,36:59:99:1740,0,1206:127	0|0:103,0:103:99:0,326,5818:127	1|0:39,28:67:99:1301,0,1877:127
1	233490543	.	G	A	7017.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2049182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2049182" target="_blank">rs2049182</a>;ExAC.Info.AC=55454;ExAC.Info.AN=126626;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=30618;ExAC.Info.AC_Hom=12235;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1136-39G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1136G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366624;SAVANT_GENE=RP5-862P8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-862P82" target="_blank">RP5-862P82</a>;SAVANT_INFO=+/57.4kb/10/5.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1136-39G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-862P82+c.1136-39G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233490543">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,48:77:99:1787,0,1295:127	0|0:114,0:114:99:0,348,6118:127	1|0:43,39:82:99:1388,0,1990:127
1	233498026	.	C	T	4990.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56052041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56052041" target="_blank">rs56052041</a>;ExAC.Info.AC=3527;ExAC.Info.AN=126702;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=3371;ExAC.Info.AC_Hom=76;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile513Ile/c.1539C>T;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366624;SAVANT_GENE=RP5-862P8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-862P82" target="_blank">RP5-862P82</a>;SAVANT_INFO=+/57.4kb/10/5.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1539C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-862P82+c.1539C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233498026">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,38:84:99:999,0,1499:127	0|0:112,0:112:99:0,336,4203:127	1|0:49,36:85:99:975,0,1558:127
1	233512313	.	C	T	4498.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=605;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1294248;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1294248" target="_blank">rs1294248</a>;ExAC.Info.AC=7342;ExAC.Info.AN=126652;ExAC.Info.AF=0.058;ExAC.Info.AC_Het=6416;ExAC.Info.AC_Hom=395;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1924+40C>T;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366624;SAVANT_GENE=RP5-862P8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-862P82" target="_blank">RP5-862P82</a>;SAVANT_INFO=+/57.4kb/10/5.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1924+40C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-862P82+c.1924+40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233512313">View</a>	GT:AD:DP:GQ:PL:TP	0|0:190,0:190:99:0,571,6668:127	0|0:233,0:233:99:0,700,8177:127	0|1:96,86:182:99:2268,0,2881:127
1	233515122	.	A	C	128.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;cosmic68.Histology_subtype=NS;ExAC.Info.AC=9086;ExAC.Info.AN=126700;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=7752;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro790Pro/c.2370A>C;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366624;SAVANT_GENE=RP5-862P8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-862P82" target="_blank">RP5-862P82</a>;SAVANT_INFO=+/57.4kb/10/5.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2370A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-862P82+c.2370A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233515122">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,19:86:34:0,34,1982:34	0|0:87,16:103:93:0,93,2786:34	0|1:78,29:107:83:83,0,2114:34
1	233515413	.	G	A	4868.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1402815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1402815" target="_blank">rs1402815</a>;ExAC.Info.AC=38902;ExAC.Info.AN=126702;ExAC.Info.AF=0.307;ExAC.Info.AC_Het=25381;ExAC.Info.AC_Hom=6733;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro887Pro/c.2661G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=MLK4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLK4" target="_blank">MLK4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366624;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366624;SAVANT_GENE=RP5-862P8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-862P82" target="_blank">RP5-862P82</a>;SAVANT_INFO=+/57.4kb/10/5.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2661G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-862P82+c.2661G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233515413">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,399,4627:127	0|1:85,86:171:99:2453,0,2401:127	0|0:140,0:140:99:0,421,4785:127
1	233719984	.	G	A	9104.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11800854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11800854" target="_blank">rs11800854</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11800854" target="_blank">rs11800854</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233719984">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,53:110:99:1454,0,1782:127	0|0:190,0:190:99:0,571,6864:127	1|0:66,58:124:99:1574,0,1890:127
1	233759864	.	C	T	2703.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12092901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12092901" target="_blank">rs12092901</a>;ExAC.Info.AC=137;ExAC.Info.AN=4660;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.355+9592C>T;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK1" target="_blank">KCNK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366621;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:In_membrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356C>T;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK1" target="_blank">KCNK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366621;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:In_membrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356C>T;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK1" target="_blank">KCNK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366621;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366621;SAVANT_GENE=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK1" target="_blank">KCNK1</a>;SAVANT_INFO=+/58.5kb/3/2.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.355+9592C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNK1+c.355+9592C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233759864">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,15:45:99:373,0,842:127	0|0:66,0:66:99:0,198,2189:127	1|0:28,20:48:99:600,0,770:127
1	233759918	.	T	C	2773.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs701213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=701213" target="_blank">rs701213</a>;ExAC.Info.AC=407;ExAC.Info.AN=4038;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=3;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.21T>C;snpeff.Gene_Name=MIR4427;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4427" target="_blank">MIR4427</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000585213;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.355+9646T>C;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4427" target="_blank">MIR4427</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366621;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:In_membrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356T>C;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4427" target="_blank">MIR4427</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366621;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:In_membrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356T>C;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4427" target="_blank">MIR4427</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366621;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366621;SAVANT_GENE=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK1" target="_blank">KCNK1</a>;SAVANT_INFO=+/58.5kb/3/2.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.355+9646T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNK1+c.355+9646T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233759918">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,15:40:99:393,0,611:127	0|0:75,0:75:99:0,225,2416:127	1|0:26,17:43:99:579,0,694:127
1	233785786	.	A	C	18670.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4649241;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4649241" target="_blank">rs4649241</a>;ExAC.Info.AC=56498;ExAC.Info.AN=118846;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=28378;ExAC.Info.AC_Hom=13892;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.356-16555A>C;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK1" target="_blank">KCNK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366621;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:In_membrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356A>C;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK1" target="_blank">KCNK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366621;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:In_membrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356A>C;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK1" target="_blank">KCNK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366621;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366621;SAVANT_GENE=KCNK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK1" target="_blank">KCNK1</a>;SAVANT_INFO=+/58.5kb/3/2.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.356-16555A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNK1+c.356-16555A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:233785786">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3224,280,0:127	1|0:77,66:143:99:1891,0,2309:127	1|1:0,91:91:99:3092,273,0:127
1	234040742	.	A	C	12773.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12136133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12136133" target="_blank">rs12136133</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=82;snpeff.Amino_Acid_Change=c.-82A>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366618;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366618;SAVANT_GENE=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;SAVANT_INFO=+/419.6kb/8/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-82A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35F3+c.-82A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234040742">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1095,90,0:110	1|1:1,56:57:99:1998,131,0:110	1|1:0,37:37:99:1414,111,0:110
1	234040898	.	G	A	4649.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs78485515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78485515" target="_blank">rs78485515</a>;ExAC.Info.AC=2971;ExAC.Info.AN=101860;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=1393;ExAC.Info.AC_Hom=85;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.53+22G>A;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366618;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366618;SAVANT_GENE=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;SAVANT_INFO=+/419.6kb/8/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.53+22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35F3+c.53+22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234040898">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,39:75:99:1094,0,975:127	0|0:63,0:63:99:0,189,2252:127	1|0:21,19:40:99:546,0,672:127
1	234041317	.	C	T	5856.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs79244900;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79244900" target="_blank">rs79244900</a>;ExAC.Info.AC=5235;ExAC.Info.AN=126700;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4793;ExAC.Info.AC_Hom=210;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser32Ser/c.96C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366618;SAVANT_GENE=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;SAVANT_INFO=+/419.6kb/8/2.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.96C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35F3+c.96C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234041317">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,45:76:99:1475,0,966:127	0|0:104,0:104:99:0,313,3836:127	1|0:30,30:60:99:856,0,987:127
1	234041422	.	G	C	57839.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=723;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs57010808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57010808" target="_blank">rs57010808</a>;ExAC.Info.AC=61401;ExAC.Info.AN=126694;ExAC.Info.AF=0.485;ExAC.Info.AC_Het=30444;ExAC.Info.AC_Hom=15409;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro67Pro/c.201G>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366618;SAVANT_GENE=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;SAVANT_INFO=+/419.6kb/8/2.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.201G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35F3+c.201G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234041422">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,217:217:99:7386,651,0:127	1|1:0,291:291:99:10111,874,0:127	1|1:0,215:215:99:7629,649,0:127
1	234310757	.	G	A	17081.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=426;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4920216;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4920216" target="_blank">rs4920216</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.284-56406G>A;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366618;SAVANT_GENE=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;SAVANT_INFO=+/419.6kb/8/2.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.284-56406G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35F3+c.284-56406G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234310757">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,61:131:99:1570,0,1897:127	0|1:104,72:176:99:1922,0,2850:127	1|1:0,119:119:99:4124,358,0:127
1	234310850	.	C	T	25759.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4920217;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4920217" target="_blank">rs4920217</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.284-56313C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366618;SAVANT_GENE=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;SAVANT_INFO=+/419.6kb/8/2.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.284-56313C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35F3+c.284-56313C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234310850">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:4019,361,0:127	1|1:0,139:139:99:4657,418,0:127	1|1:0,100:100:99:3479,301,0:127
1	234338303	.	G	A	12694.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=700;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7531501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7531501" target="_blank">rs7531501</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.284-28860G>A;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366618;SAVANT_GENE=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;SAVANT_INFO=+/419.6kb/8/2.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.284-28860G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35F3+c.284-28860G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234338303">View</a>	GT:AD:DP:GQ:PL:TP	1|0:91,82:173:99:2131,0,2429:127	0|0:269,1:270:99:0,770,9110:127	1|0:141,116:257:99:3221,0,3926:127
1	234338338	.	T	G	10172.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=539;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7547589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7547589" target="_blank">rs7547589</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.284-28825T>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366618;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366618;SAVANT_GENE=SLC35F3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35F3" target="_blank">SLC35F3</a>;SAVANT_INFO=+/419.6kb/8/2.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.284-28825T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35F3+c.284-28825T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234338338">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,60:130:99:1669,0,1883:127	0|0:216,1:217:99:0,613,7546:127	1|0:100,92:192:99:2521,0,3151:127
1	234509259	.	G	C	10558.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10910420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10910420" target="_blank">rs10910420</a>;ExAC.Info.AC=62145;ExAC.Info.AN=121170;ExAC.Info.AF=0.513;ExAC.Info.AC_Het=25936;ExAC.Info.AC_Hom=15114;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.81C>G;snpeff.Gene_Name=RP5-827C21.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-827C214" target="_blank">RP5-827C214</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451795;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0147.1:Cmyc];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aCt;snpeff.Amino_Acid_Change=p.Ser16Thr/c.47G>C;snpeff.Amino_Acid_length=155;snpeff.Gene_Name=COA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-827C214" target="_blank">RP5-827C214</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366615;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP5-827C214" target="_blank">RP5-827C214</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP5-827C214+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234509259">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,67:131:99:1893,0,1965:127	1|0:63,75:138:99:2349,0,1868:127	0|0:121,0:121:99:0,364,4327:127
1	234519452	.	C	CT	1239.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs58896934;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58896934" target="_blank">rs58896934</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.373-16_373-15insT;snpeff.Amino_Acid_length=155;snpeff.Gene_Name=COA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COA6" target="_blank">COA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366613;SAVANT_GENE=C1orf31;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf31" target="_blank">C1orf31</a>;SAVANT_INFO=+/10.4kb/3/0.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.283-8dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf31+c.283-8dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234519452">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,16:31:99:346,0,327:98	1|0:6,14:20:99:340,0,110:98	0|0:33,0:33:99:0,99,906:98
1	234529552	.	C	T	12474.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2175594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2175594" target="_blank">rs2175594</a>;ExAC.Info.AC=58148;ExAC.Info.AN=126678;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=30535;ExAC.Info.AC_Hom=13715;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala1425Ala/c.4275G>A;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000040877;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000040877;SAVANT_GENE=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;SAVANT_INFO=-/87.8kb/30/5.1kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.4275G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TARBP1+c.4275G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234529552">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,55:126:99:1972,0,3409:127	1|0:64,73:137:99:2734,0,2930:127	0|0:84,1:85:99:0,217,4589:127
1	234529570	.	G	A	12010.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2175593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2175593" target="_blank">rs2175593</a>;ExAC.Info.AC=57390;ExAC.Info.AN=126676;ExAC.Info.AF=0.453;ExAC.Info.AC_Het=30433;ExAC.Info.AC_Hom=13349;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val1419Val/c.4257C>T;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000040877;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000040877;SAVANT_GENE=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;SAVANT_INFO=-/87.8kb/30/5.1kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.4257C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TARBP1+c.4257C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234529570">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,51:115:99:1913,0,3298:127	1|0:63,73:136:99:2792,0,2884:127	0|0:90,1:91:99:0,238,4700:127
1	234541801	.	A	G	2288.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12073170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12073170" target="_blank">rs12073170</a>;ExAC.Info.AC=13072;ExAC.Info.AN=126704;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=11414;ExAC.Info.AC_Hom=828;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys1279Cys/c.3837T>C;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000040877;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000040877;SAVANT_GENE=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;SAVANT_INFO=-/87.8kb/30/5.1kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.3837T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TARBP1+c.3837T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234541801">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,339,3726:127	0|0:115,0:115:99:0,346,3832:127	0|1:53,42:95:99:1163,0,1535:127
1	234546245	.	C	T	5425.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1141264;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1141264" target="_blank">rs1141264</a>;ExAC.Info.AC=46113;ExAC.Info.AN=126612;ExAC.Info.AF=0.364;ExAC.Info.AC_Het=28696;ExAC.Info.AC_Hom=8494;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr1246Thr/c.3738G>A;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000040877;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000040877;SAVANT_GENE=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;SAVANT_INFO=-/87.8kb/30/5.1kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.3738G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TARBP1+c.3738G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234546245">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,37:78:99:969,0,1188:127	1|0:52,44:96:99:1202,0,1381:127	0|0:92,0:92:99:0,276,3075:127
1	234546384	.	T	C	756.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12072682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12072682" target="_blank">rs12072682</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3706-107A>G;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000040877;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000040877;SAVANT_GENE=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;SAVANT_INFO=-/87.8kb/30/5.1kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3706-107A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TARBP1+c.3706-107A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234546384">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1105:95	0|0:40,0:40:99:0,120,1325:95	0|1:18,14:32:99:397,0,567:95
1	234563060	.	T	C	2100.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs443685;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=443685" target="_blank">rs443685</a>;ExAC.Info.AC=46146;ExAC.Info.AN=126676;ExAC.Info.AF=0.364;ExAC.Info.AC_Het=28703;ExAC.Info.AC_Hom=8576;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3323+3A>G;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000040877;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3324A>G;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000040877;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000040877;SAVANT_GENE=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;SAVANT_INFO=-/87.8kb/30/5.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.3323+3A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TARBP1+c.3323+3A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234563060">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1734:127	0|1:25,37:62:99:1069,0,637:127	0|0:54,0:54:99:0,162,1810:127
1	234582651	.	T	C	21078.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=400;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4920246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4920246" target="_blank">rs4920246</a>;ExAC.Info.AC=37952;ExAC.Info.AN=126696;ExAC.Info.AF=0.300;ExAC.Info.AC_Het=26203;ExAC.Info.AC_Hom=5870;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Ggt;snpeff.Amino_Acid_Change=p.Ser678Gly/c.2032A>G;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000040877;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000040877;SAVANT_GENE=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;SAVANT_INFO=-/87.8kb/30/5.1kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2032A>G_p.Ser678Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TARBP1+c.2032A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234582651">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:4146,346,0:127	1|0:80,78:158:99:2302,0,2335:127	1|0:58,69:127:99:2117,0,1696:127
1	234584231	.	C	T	27152.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=586;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2102596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2102596" target="_blank">rs2102596</a>;ExAC.Info.AC=37096;ExAC.Info.AN=126690;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=25881;ExAC.Info.AC_Hom=5551;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln652Gln/c.1956G>A;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000040877;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000040877;SAVANT_GENE=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;SAVANT_INFO=-/87.8kb/30/5.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1956G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TARBP1+c.1956G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234584231">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,172:172:99:5528,515,0:127	1|0:105,117:222:99:3260,0,2845:127	1|0:102,90:192:99:2503,0,2982:127
1	234601456	.	TA	T	143.43	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=22;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1249-3delT;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000040877;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1249delT;snpeff.Amino_Acid_length=1621;snpeff.Gene_Name=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000040877;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000040877;SAVANT_GENE=TARBP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TARBP1" target="_blank">TARBP1</a>;SAVANT_INFO=-/87.8kb/30/5.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1249-3delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TARBP1+c.1249-3delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234601456">View</a>	GT:AD:DP:GQ:PL:TP	0|0:6,1:7:11:0,11,112:6	0|0:8,1:9:8:0,8,141:6	0|1:3,3:6:24:24,0,46:6
1	234744250	.	G	A	8879.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs8722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8722" target="_blank">rs8722</a>;ExAC.Info.AC=23675;ExAC.Info.AN=126198;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=17847;ExAC.Info.AC_Hom=2537;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.630+867G>A;snpeff.Gene_Name=RP4-781K5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-781K52" target="_blank">RP4-781K52</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000436039;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu331Leu/c.991C>T;snpeff.Amino_Acid_length=587;snpeff.Gene_Name=IRF2BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-781K52" target="_blank">RP4-781K52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366609;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366609;SAVANT_GENE=IRF2BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF2BP2" target="_blank">IRF2BP2</a>;SAVANT_INFO=-/5.3kb/2/4.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.991C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF2BP2+c.991C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234744250">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,42:74:99:1271,0,813:127	0/1:24,45:69:99:1138,0,613:127	0/1:35,36:71:99:1065,0,1000:127
1	234744413	.	C	A	3015.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4636;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4636" target="_blank">rs4636</a>;ExAC.Info.AC=33048;ExAC.Info.AN=113990;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=11024;ExAC.Info.AC_Hom=3150;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.631-754C>A;snpeff.Gene_Name=RP4-781K5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-781K52" target="_blank">RP4-781K52</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000436039;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcT;snpeff.Amino_Acid_Change=p.Ala276Ala/c.828G>T;snpeff.Amino_Acid_length=587;snpeff.Gene_Name=IRF2BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-781K52" target="_blank">RP4-781K52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366609;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366609;SAVANT_GENE=IRF2BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF2BP2" target="_blank">IRF2BP2</a>;SAVANT_INFO=-/5.3kb/2/4.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.828G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF2BP2+c.828G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234744413">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,15:29:99:450,0,430:127	0/1:23,13:36:99:372,0,681:127	0/1:11,16:27:99:470,0,345:127
1	234744480	.	G	A	2056.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=63;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11502" target="_blank">rs11502</a>;ExAC.Info.AC=5394;ExAC.Info.AN=99996;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=1503;ExAC.Info.AC_Hom=105;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.631-687G>A;snpeff.Gene_Name=RP4-781K5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-781K52" target="_blank">RP4-781K52</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000436039;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala254Val/c.761C>T;snpeff.Amino_Acid_length=587;snpeff.Gene_Name=IRF2BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-781K52" target="_blank">RP4-781K52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366609;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366609;SAVANT_GENE=IRF2BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF2BP2" target="_blank">IRF2BP2</a>;SAVANT_INFO=-/5.3kb/2/4.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.761C>T_p.Ala254Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF2BP2+c.761C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234744480">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,6:19:99:144,0,422:48	1|0:14,14:28:99:413,0,427:48	0|0:16,0:16:48:0,48,626:48
1	234745009	.	A	G	10317.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7545855;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7545855" target="_blank">rs7545855</a>;ExAC.Info.AC=11774;ExAC.Info.AN=32342;ExAC.Info.AF=0.364;ExAC.Info.AC_Het=454;ExAC.Info.AC_Hom=313;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.631-158A>G;snpeff.Gene_Name=RP4-781K5.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-781K52" target="_blank">RP4-781K52</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000436039;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcg/Ccg;snpeff.Amino_Acid_Change=p.Ser78Pro/c.232T>C;snpeff.Amino_Acid_length=587;snpeff.Gene_Name=IRF2BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-781K52" target="_blank">RP4-781K52</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366609;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366609;SAVANT_GENE=IRF2BP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF2BP2" target="_blank">IRF2BP2</a>;SAVANT_INFO=-/5.3kb/2/4.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.232T>C_p.Ser78Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF2BP2+c.232T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234745009">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:1020,81,0:104	1|1:0,42:42:99:1510,126,0:104	1|1:0,35:35:99:1176,105,0:104
1	234953875	.	C	CA	380.52	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=44;MQ=44.11;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs138215498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138215498" target="_blank">rs138215498</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138215498" target="_blank">rs138215498</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:234953875">View</a>	GT:AD:DP:GQ:PL:TP	0|0:16,0:16:48:0,48,590:5	0|1:20,2:22:4:4,0,648:5	0|1:0,6:6:0:214,18,0:5
1	235285740	.	C	T	3398.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4659823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4659823" target="_blank">rs4659823</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.122-53G>A;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=TOMM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOMM20" target="_blank">TOMM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366607;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.122C>T;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=TOMM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOMM20" target="_blank">TOMM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366607;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.122C>T;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=TOMM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOMM20" target="_blank">TOMM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366607;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.122C>T;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=TOMM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOMM20" target="_blank">TOMM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366607;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.122C>T;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=TOMM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOMM20" target="_blank">TOMM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366607;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.122C>T;snpeff.Amino_Acid_length=145;snpeff.Gene_Name=TOMM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOMM20" target="_blank">TOMM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366607;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366607;SAVANT_GENE=TOMM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOMM20" target="_blank">TOMM20</a>;SAVANT_INFO=-/19.6kb/5/3.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.122-53G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOMM20+c.122-53G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235285740">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,15:44:99:312,0,917:127	0/1:36,25:61:99:672,0,1084:127	0/1:29,17:46:99:420,0,867:127
1	235301496	.	CA	C	3345.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs367780945;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=367780945" target="_blank">rs367780945</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.702-8delT;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=RBM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408888;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.702delT;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=RBM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408888;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000408888;SAVANT_GENE=RBM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM34" target="_blank">RBM34</a>;SAVANT_INFO=-/30.3kb/11/2.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.702-8delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM34+c.702-8delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235301496">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,25:36:99:400,0,184:127	0/1:17,34:51:99:680,0,278:127	0/1:11,25:36:99:453,0,186:127
1	235324298	.	T	C	9692.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2295815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295815" target="_blank">rs2295815</a>;ExAC.Info.AC=15929;ExAC.Info.AN=125326;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=13042;ExAC.Info.AC_Hom=1430;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu46Glu/c.138A>G;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=RBM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408888;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000408888;SAVANT_GENE=RBM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM34" target="_blank">RBM34</a>;SAVANT_INFO=-/30.3kb/11/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.138A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM34+c.138A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235324298">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,46:89:99:1374,0,1191:127	0/1:44,52:96:99:1514,0,1320:127	0/1:41,32:73:99:993,0,1231:127
1	235324545	.	T	A	23782.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=793;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs66929873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66929873" target="_blank">rs66929873</a>;ExAC.Info.AC=13681;ExAC.Info.AN=125714;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=11898;ExAC.Info.AC_Hom=866;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=4;snpeff.Amino_Acid_Change=c.-4A>T;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=RBM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408888;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000408888;SAVANT_GENE=RBM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM34" target="_blank">RBM34</a>;SAVANT_INFO=-/30.3kb/11/2.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM34+c.-4A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235324545">View</a>	GT:AD:DP:GQ:PL:TP	0/1:119,136:255:99:3534,0,3017:127	0/1:139,153:292:99:4089,0,3945:127	0/1:131,115:246:99:3053,0,3410:127
1	235357303	.	A	ATG	33089.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs34768226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34768226" target="_blank">rs34768226</a>;ExAC.Info.AC=56215;ExAC.Info.AN=126122;ExAC.Info.AF=0.446;ExAC.Info.AC_Het=28721;ExAC.Info.AC_Hom=12005;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2125+25_2125+24insCA;snpeff.Amino_Acid_length=1312;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264183;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000264183;SAVANT_GENE=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;SAVANT_INFO=-/161.3kb/24/6.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2125+24_2125+25insCA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARID4B+c.2125+24_2125+25insCA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235357303">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,123:123:99:5619,378,0:127	1|0:90,93:183:99:3700,0,3695:127	1|1:0,134:134:99:6203,415,0:127
1	235357314	.	AT	A	17934.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=573;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs35180803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35180803" target="_blank">rs35180803</a>;ExAC.Info.AC=43283;ExAC.Info.AN=126594;ExAC.Info.AF=0.342;ExAC.Info.AC_Het=26295;ExAC.Info.AC_Hom=8028;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2125+13delA;snpeff.Amino_Acid_length=1312;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264183;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000264183;SAVANT_GENE=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;SAVANT_INFO=-/161.3kb/24/6.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2125+13delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARID4B+c.2125+13delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235357314">View</a>	GT:AD:DP:GQ:PL:TP	0/1:100,73:173:99:2211,0,3212:127	0/1:114,116:230:99:3612,0,3557:127	0/1:78,92:170:99:2906,0,2403:127
1	235357543	.	A	G	11672.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10802438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10802438" target="_blank">rs10802438</a>;ExAC.Info.AC=43984;ExAC.Info.AN=126512;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=26141;ExAC.Info.AC_Hom=8316;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1927-17T>C;snpeff.Amino_Acid_length=1312;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264183;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264183;SAVANT_GENE=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;SAVANT_INFO=-/161.3kb/24/6.1kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1927-17T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARID4B+c.1927-17T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235357543">View</a>	GT:AD:DP:GQ:PL:TP	0/1:72,54:126:99:1647,0,2395:127	0/1:83,65:148:99:2012,0,2533:127	0/1:71,64:135:99:2008,0,2326:127
1	235383188	.	A	G	41175.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=757;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4659654;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4659654" target="_blank">rs4659654</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=60356;ExAC.Info.AN=126692;ExAC.Info.AF=0.476;ExAC.Info.AC_Het=30507;ExAC.Info.AC_Hom=14904;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp501Asp/c.1503T>C;snpeff.Amino_Acid_length=1312;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264183;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264183;SAVANT_GENE=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;SAVANT_INFO=-/161.3kb/24/6.1kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1503T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARID4B+c.1503T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235383188">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,249:249:99:7798,747,0:127	1|0:142,149:291:99:4047,0,3763:127	1|1:0,217:217:99:7229,652,0:127
1	235392546	.	T	C	42040.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=764;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs12731746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12731746" target="_blank">rs12731746</a>;ExAC.Info.AC=60183;ExAC.Info.AN=126670;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=30424;ExAC.Info.AC_Hom=14706;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu299Glu/c.897A>G;snpeff.Amino_Acid_length=1312;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264183;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.897A>G;snpeff.Amino_Acid_length=1312;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264183;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264183;SAVANT_GENE=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;SAVANT_INFO=-/161.3kb/24/6.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.897A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARID4B+c.897A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235392546">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,255:255:99:9177,766,0:127	1|0:138,123:261:99:3621,0,4127:127	1|1:0,248:248:99:8519,744,0:127
1	235394510	.	TA	T	4790.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=340;MQ=70.19;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11321831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11321831" target="_blank">rs11321831</a>;ExAC.Info.AC=12975;ExAC.Info.AN=125790;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=10511;ExAC.Info.AC_Hom=653;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.666-7delT;snpeff.Amino_Acid_length=1312;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264183;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.666delT;snpeff.Amino_Acid_length=1312;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264183;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000264183;SAVANT_GENE=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;SAVANT_INFO=-/161.3kb/24/6.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.666-7delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARID4B+c.666-7delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235394510">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,54:103:99:1211,0,1557:127	0|0:138,0:138:99:0,415,5214:127	1|0:41,58:99:99:1381,0,1265:127
1	235394541	.	A	C	8914.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7518225;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7518225" target="_blank">rs7518225</a>;ExAC.Info.AC=50972;ExAC.Info.AN=115812;ExAC.Info.AF=0.440;ExAC.Info.AC_Het=14271;ExAC.Info.AC_Hom=7195;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.666-37T>G;snpeff.Amino_Acid_length=1312;snpeff.Gene_Name=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264183;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264183;SAVANT_GENE=ARID4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID4B" target="_blank">ARID4B</a>;SAVANT_INFO=-/161.3kb/24/6.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.666-37T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARID4B+c.666-37T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235394541">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2146,198,0:127	1|0:43,33:76:99:838,0,1258:127	1|1:0,65:65:99:2109,195,0:127
1	235590559	.	G	A	16342.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=869;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3);dbSNP139.ID=rs12757197;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12757197" target="_blank">rs12757197</a>;ExAC.Info.AC=12529;ExAC.Info.AN=126704;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=10978;ExAC.Info.AC_Hom=770;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.560+5G>A;snpeff.Amino_Acid_length=578;snpeff.Gene_Name=TBCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBCE" target="_blank">TBCE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543662;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561G>A;snpeff.Amino_Acid_length=578;snpeff.Gene_Name=TBCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBCE" target="_blank">TBCE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543662;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366601;SAVANT_GENE=TBCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBCE" target="_blank">TBCE</a>;SAVANT_INFO=+/81.6kb/17/2.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.560+5G>A;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TBCE+c.560+5G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235590559">View</a>	GT:AD:DP:GQ:PL:TP	1|0:134,123:257:99:3324,0,4206:127	0|0:325,0:325:99:0,976,11617:127	1|0:144,143:287:99:3916,0,4151:127
1	235598973	.	C	T	1912.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3);dbSNP139.ID=rs2055127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2055127" target="_blank">rs2055127</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.891-87C>T;snpeff.Amino_Acid_length=578;snpeff.Gene_Name=TBCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBCE" target="_blank">TBCE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543662;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366601;SAVANT_GENE=TBCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBCE" target="_blank">TBCE</a>;SAVANT_INFO=+/81.6kb/17/2.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.738-87C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TBCE+c.738-87C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235598973">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1685:127	0|1:21,31:52:99:975,0,655:127	0|0:65,0:65:99:0,195,2412:127
1	235611535	.	C	CAAA	1372.26	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=40;MQ=69.89;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3);dbSNP139.ID=rs59405398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59405398" target="_blank">rs59405398</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1553-128_1553-127insAAA;snpeff.Amino_Acid_length=578;snpeff.Gene_Name=TBCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBCE" target="_blank">TBCE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543662;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366601;SAVANT_GENE=TBCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBCE" target="_blank">TBCE</a>;SAVANT_INFO=+/81.6kb/17/2.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1400-111_1400-109dupAAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TBCE+c.1400-111_1400-109dupAAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235611535">View</a>	GT:AD:DP:GQ:PL:TP	1|0:6,6:12:73:73,0,82:11	0|1:5,7:12:54:80,0,54:11	1|1:2,14:16:11:279,11,0:11
1	235612219	.	T	A	12015.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=686;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3);dbSNP139.ID=rs7537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7537" target="_blank">rs7537</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TBCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBCE" target="_blank">TBCE</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366601;SAVANT_GENE=TBCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBCE" target="_blank">TBCE</a>;SAVANT_INFO=+/81.6kb/17/2.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*142T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TBCE+c.*142T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235612219">View</a>	GT:AD:DP:GQ:PL:TP	1|0:98,102:200:99:2911,0,2809:127	0|0:264,0:264:99:0,793,9118:127	1|0:118,104:222:99:2847,0,3405:127
1	235616309	.	T	C	5153.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3);dbSNP139.ID=rs6702967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702967" target="_blank">rs6702967</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1368+93A>G;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1369T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366600;SAVANT_GENE=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;SAVANT_INFO=-/54.5kb/12/2.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1368+93A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B3GALNT2+c.1368+93A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235616309">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,34:64:99:1063,0,813:127	0|0:85,0:85:99:0,256,2952:127	1|0:37,34:71:99:1034,0,1016:127
1	235628908	.	G	A	22732.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=828;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3);dbSNP139.ID=rs1305556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1305556" target="_blank">rs1305556</a>;ExAC.Info.AC=73451;ExAC.Info.AN=126692;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=28372;ExAC.Info.AC_Hom=22473;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.841+45C>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.842G>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366600;SAVANT_GENE=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;SAVANT_INFO=-/54.5kb/12/2.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.841+45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B3GALNT2+c.841+45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235628908">View</a>	GT:AD:DP:GQ:PL:TP	0/1:127,114:241:99:2804,0,3775:127	0/1:165,149:314:99:3979,0,5137:127	0/1:134,139:273:99:3959,0,3903:127
1	235647631	.	G	T	15925.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=545;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3);dbSNP139.ID=rs291387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=291387" target="_blank">rs291387</a>;ExAC.Info.AC=73730;ExAC.Info.AN=126682;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=28325;ExAC.Info.AC_Hom=22628;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.555+7C>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556G>T;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.556C>A;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366600;SAVANT_GENE=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;SAVANT_INFO=-/54.5kb/12/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.555+7C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B3GALNT2+c.555+7C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235647631">View</a>	GT:AD:DP:GQ:PL:TP	0/1:78,78:156:99:2162,0,2270:127	0/1:95,104:199:99:2938,0,2821:127	0/1:92,98:190:99:2657,0,2781:127
1	235652513	.	T	C	31715.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1065;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3);dbSNP139.ID=rs291396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=291396" target="_blank">rs291396</a>;ExAC.Info.AC=73779;ExAC.Info.AN=126704;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=28373;ExAC.Info.AC_Hom=22688;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.321T>C;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu107Glu/c.321A>G;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366600;SAVANT_GENE=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;SAVANT_INFO=-/54.5kb/12/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.321A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B3GALNT2+c.321A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235652513">View</a>	GT:AD:DP:GQ:PL:TP	0/1:168,185:353:99:5524,0,4583:127	0/1:202,187:389:99:5546,0,6032:127	0/1:160,163:323:99:4793,0,4742:127
1	235659621	.	GA	G	499.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3)|Kenny-Caffey_syndrome-1|_244460_(3)|_Hypoparathyroidism-retardation-dysmorphism_syndrome|_241410_(3)|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies|_type_A|_11|_615181_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.113-1484delT;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113delA;snpeff.Amino_Acid_length=500;snpeff.Gene_Name=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366600;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366600;SAVANT_GENE=B3GALNT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B3GALNT2" target="_blank">B3GALNT2</a>;SAVANT_INFO=-/54.5kb/12/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.113-1484delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=B3GALNT2+c.113-1484delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235659621">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,6:27:60:60,0,435:59	0/1:42,13:55:99:125,0,911:59	0/1:35,8:43:81:81,0,740:59
1	235715523	.	A	G	14181.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=192;MQ=69.83;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs14326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=14326" target="_blank">rs14326</a>;ExAC.Info.AC=73795;ExAC.Info.AN=126702;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=29130;ExAC.Info.AC_Hom=22333;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala38Ala/c.114T>C;snpeff.Amino_Acid_length=75;snpeff.Gene_Name=GNG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG4" target="_blank">GNG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450593;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391854;SAVANT_GENE=GNG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG4" target="_blank">GNG4</a>;SAVANT_INFO=-/102.3kb/4/5.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.114T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNG4+c.114T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235715523">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2513,216,0:127	1|1:0,68:68:99:2358,204,0:127	1|0:26,26:52:99:796,0,786:127
1	235747154	.	A	G	6107.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2774336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2774336" target="_blank">rs2774336</a>;ExAC.Info.AC=56168;ExAC.Info.AN=126698;ExAC.Info.AF=0.443;ExAC.Info.AC_Het=28634;ExAC.Info.AC_Hom=13749;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-10-6T>C;snpeff.Amino_Acid_length=75;snpeff.Gene_Name=GNG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG4" target="_blank">GNG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1T>C;snpeff.Amino_Acid_length=75;snpeff.Gene_Name=GNG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG4" target="_blank">GNG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450593;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000391854;SAVANT_GENE=GNG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG4" target="_blank">GNG4</a>;SAVANT_INFO=-/102.3kb/4/5.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-16T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GNG4+c.-16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235747154">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,30:60:99:875,0,874:127	1|0:55,44:99:99:1257,0,1593:127	0|0:90,0:90:99:0,271,3231:127
1	235826382	.	TA	T	4660.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Chediak-Higashi_syndrome|_214500_(3)|Chediak-Higashi_syndrome|_214500_(3);dbSNP139.ID=rs36014994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36014994" target="_blank">rs36014994</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11268-5delT;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000389794;SAVANT_GENE=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;SAVANT_INFO=-/205.9kb/53/13.5kb;SAVANT_LOC=In52/53;SAVANT_HGVS=c.11268-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYST+c.11268-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235826382">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,26:57:99:468,0,638:127	0/1:44,47:91:99:936,0,867:127	0/1:24,37:61:99:781,0,452:127
1	235840495	.	G	T	3873.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Chediak-Higashi_syndrome|_214500_(3)|Chediak-Higashi_syndrome|_214500_(3);dbSNP139.ID=rs72761794;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72761794" target="_blank">rs72761794</a>;ExAC.Info.AC=831;ExAC.Info.AN=126704;ExAC.Info.AF=6.559e-03;ExAC.Info.AC_Het=821;ExAC.Info.AC_Hom=5;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10941-7C>A;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10941C>A;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389794;SAVANT_GENE=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;SAVANT_INFO=-/205.9kb/53/13.5kb;SAVANT_LOC=In49/50;SAVANT_HGVS=c.10941-7C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYST+c.10941-7C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235840495">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,35:75:99:916,0,1224:127	1|0:40,36:76:99:1023,0,1162:127	0|0:72,0:72:99:0,216,2505:127
1	235887276	.	G	T	8861.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Chediak-Higashi_syndrome|_214500_(3)|Chediak-Higashi_syndrome|_214500_(3);dbSNP139.ID=rs6667717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6667717" target="_blank">rs6667717</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9315+52C>A;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389794;SAVANT_GENE=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;SAVANT_INFO=-/205.9kb/53/13.5kb;SAVANT_LOC=In39/40;SAVANT_HGVS=c.9315+52C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYST+c.9315+52C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235887276">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,38:84:99:1051,0,1549:127	0/1:54,61:115:99:1752,0,1754:127	0/1:40,48:88:99:1448,0,1256:127
1	235910392	.	A	G	4003.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Chediak-Higashi_syndrome|_214500_(3)|Chediak-Higashi_syndrome|_214500_(3);dbSNP139.ID=rs6676149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6676149" target="_blank">rs6676149</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7781-565T>C;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389794;SAVANT_GENE=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;SAVANT_INFO=-/205.9kb/53/13.5kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.7781-565T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYST+c.7781-565T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235910392">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,17:30:99:618,0,380:127	0/1:18,13:31:99:448,0,606:127	0/1:22,29:51:99:1031,0,678:127
1	235910542	.	C	T	12085.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=383;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Chediak-Higashi_syndrome|_214500_(3)|Chediak-Higashi_syndrome|_214500_(3);dbSNP139.ID=rs3754234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3754234" target="_blank">rs3754234</a>;ExAC.Info.AC=4860;ExAC.Info.AN=16776;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=2515;ExAC.Info.AC_Hom=790;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7781-715G>A;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389794;SAVANT_GENE=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;SAVANT_INFO=-/205.9kb/53/13.5kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.7781-715G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYST+c.7781-715G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235910542">View</a>	GT:AD:DP:GQ:PL:TP	0/1:71,56:127:99:1637,0,1895:127	0/1:67,71:138:99:2065,0,1836:127	0/1:55,63:118:99:1925,0,1607:127
1	235940450	.	C	T	15654.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Chediak-Higashi_syndrome|_214500_(3)|Chediak-Higashi_syndrome|_214500_(3);dbSNP139.ID=rs2273584;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273584" target="_blank">rs2273584</a>;ExAC.Info.AC=44208;ExAC.Info.AN=126704;ExAC.Info.AF=0.349;ExAC.Info.AC_Het=26862;ExAC.Info.AC_Hom=8654;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys1791Lys/c.5373G>A;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389794;SAVANT_GENE=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;SAVANT_INFO=-/205.9kb/53/13.5kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.5373G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYST+c.5373G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235940450">View</a>	GT:AD:DP:GQ:PL:TP	0/1:87,77:164:99:2057,0,2631:127	0/1:103,84:187:99:2404,0,3180:127	0/1:97,105:202:99:3022,0,2999:127
1	235945294	.	T	C	24985.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=882;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Chediak-Higashi_syndrome|_214500_(3)|Chediak-Higashi_syndrome|_214500_(3);dbSNP139.ID=rs6696123;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6696123" target="_blank">rs6696123</a>;ExAC.Info.AC=44369;ExAC.Info.AN=126700;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=26927;ExAC.Info.AC_Hom=8700;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttA/ttG;snpeff.Amino_Acid_Change=p.Leu1652Leu/c.4956A>G;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389794;SAVANT_GENE=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;SAVANT_INFO=-/205.9kb/53/13.5kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.4956A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYST+c.4956A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235945294">View</a>	GT:AD:DP:GQ:PL:TP	0/1:132,149:281:99:4307,0,3346:127	0/1:192,131:323:99:3681,0,5504:127	0/1:150,128:278:99:3607,0,4381:127
1	235971763	.	A	G	9774.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=814;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Chediak-Higashi_syndrome|_214500_(3)|Chediak-Higashi_syndrome|_214500_(3);dbSNP139.ID=rs3768066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3768066" target="_blank">rs3768066</a>;ExAC.Info.AC=13054;ExAC.Info.AN=126700;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=11475;ExAC.Info.AC_Hom=785;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu785Leu/c.2355T>C;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389794;SAVANT_GENE=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;SAVANT_INFO=-/205.9kb/53/13.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2355T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYST+c.2355T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235971763">View</a>	GT:AD:DP:GQ:PL:TP	0|0:250,0:250:99:0,751,8187:127	0|1:148,158:306:99:4906,0,4091:127	0|0:258,0:258:99:0,775,8786:127
1	235972435	.	T	C	23029.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=658;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Chediak-Higashi_syndrome|_214500_(3)|Chediak-Higashi_syndrome|_214500_(3);dbSNP139.ID=rs3820553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820553" target="_blank">rs3820553</a>;ExAC.Info.AC=44379;ExAC.Info.AN=126684;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=26928;ExAC.Info.AC_Hom=8702;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu561Leu/c.1683A>G;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389794;SAVANT_GENE=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;SAVANT_INFO=-/205.9kb/53/13.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1683A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYST+c.1683A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235972435">View</a>	GT:AD:DP:GQ:PL:TP	0/1:91,97:188:99:3077,0,2434:127	0/1:131,115:246:99:3602,0,3863:127	0/1:112,112:224:99:3357,0,3133:127
1	235972867	.	T	C	24220.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=731;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Chediak-Higashi_syndrome|_214500_(3)|Chediak-Higashi_syndrome|_214500_(3);dbSNP139.ID=rs1063128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1063128" target="_blank">rs1063128</a>;ExAC.Info.AC=44378;ExAC.Info.AN=126704;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=26928;ExAC.Info.AC_Hom=8688;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln417Gln/c.1251A>G;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389794;SAVANT_GENE=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;SAVANT_INFO=-/205.9kb/53/13.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1251A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYST+c.1251A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235972867">View</a>	GT:AD:DP:GQ:PL:TP	0/1:127,118:245:99:3408,0,3509:127	0/1:126,125:251:99:3777,0,3463:127	0/1:115,120:235:99:3459,0,3264:127
1	235993742	.	C	CA	807.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Chediak-Higashi_syndrome|_214500_(3)|Chediak-Higashi_syndrome|_214500_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-7-18_-7-19insT;snpeff.Amino_Acid_length=3801;snpeff.Gene_Name=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000389794;SAVANT_GENE=LYST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" target="_blank">LYST</a>;SAVANT_INFO=-/205.9kb/53/13.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYST+c.-26dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:235993742">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,1:68:99:0,176,1835:127	0|1:50,23:73:99:427,0,1169:127	0|0:69,0:69:99:0,208,1899:127
1	236141174	.	T	C	3817.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3213190;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3213190" target="_blank">rs3213190</a>;ExAC.Info.AC=29972;ExAC.Info.AN=126700;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=21085;ExAC.Info.AC_Hom=4432;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln1246Arg/c.3737A>G;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264187;SAVANT_GENE=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;SAVANT_INFO=-/89.3kb/20/5.9kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.3737A>G_p.Gln1246Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NID1+c.3737A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236141174">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,31:51:99:886,0,547:127	1|0:36,34:70:99:907,0,1021:127	0|0:59,0:59:99:0,177,2104:127
1	236143302	.	C	CA	3368.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3831989;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3831989" target="_blank">rs3831989</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3386-57_3386-58insT;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3386_3387insA;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3386_3387insA;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3386_3387insA;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3386_3387insA;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000264187;SAVANT_GENE=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;SAVANT_INFO=-/89.3kb/20/5.9kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3386-58dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NID1+c.3386-58dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236143302">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,33:53:99:797,0,420:127	1|0:32,32:64:99:763,0,732:127	0|0:47,0:47:99:0,141,1390:127
1	236144951	.	A	G	6316.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3738525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738525" target="_blank">rs3738525</a>;ExAC.Info.AC=29634;ExAC.Info.AN=126702;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=20929;ExAC.Info.AC_Hom=4348;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3187A>G;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu1063Leu/c.3187T>C;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264187;SAVANT_GENE=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;SAVANT_INFO=-/89.3kb/20/5.9kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.3187T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NID1+c.3187T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236144951">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,32:76:99:868,0,1299:127	1|0:58,48:106:99:1386,0,1705:127	0|0:82,0:82:99:0,246,2742:127
1	236154186	.	C	T	5838.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72765416;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72765416" target="_blank">rs72765416</a>;ExAC.Info.AC=8;ExAC.Info.AN=126704;ExAC.Info.AF=6.314e-05;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro976Pro/c.2928G>A;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2928G>A;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264187;SAVANT_GENE=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;SAVANT_INFO=-/89.3kb/20/5.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2928G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NID1+c.2928G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236154186">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,33:76:99:879,0,1190:127	0|0:88,2:90:99:0,221,2950:127	1|0:36,36:72:99:1045,0,1121:127
1	236175327	.	C	A	2230.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3738531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3738531" target="_blank">rs3738531</a>;ExAC.Info.AC=20924;ExAC.Info.AN=126704;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=16356;ExAC.Info.AC_Hom=2257;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2421C>A;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2421C>A;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2421C>A;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caT;snpeff.Amino_Acid_Change=p.Gln807His/c.2421G>T;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264187;SAVANT_GENE=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;SAVANT_INFO=-/89.3kb/20/5.9kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2421G>T_p.Gln807His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NID1+c.2421G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236175327">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2275:127	0|1:30,44:74:99:1134,0,809:127	0|0:83,0:83:99:0,249,2779:127
1	236175339	.	T	C	11934.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2031487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2031487" target="_blank">rs2031487</a>;ExAC.Info.AC=74858;ExAC.Info.AN=126704;ExAC.Info.AF=0.591;ExAC.Info.AC_Het=28769;ExAC.Info.AC_Hom=22978;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2409T>C;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2409T>C;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val803Val/c.2409A>G;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264187;SAVANT_GENE=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;SAVANT_INFO=-/89.3kb/20/5.9kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2409A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NID1+c.2409A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236175339">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,33:70:99:901,0,1021:127	1|1:1,83:84:99:2810,215,0:127	0|1:41,45:86:99:1351,0,1162:127
1	236180580	.	C	G	2044.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3768081;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3768081" target="_blank">rs3768081</a>;ExAC.Info.AC=33798;ExAC.Info.AN=126694;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=19972;ExAC.Info.AC_Hom=6866;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2129-7G>C;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2129C>G;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2129C>G;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2129G>C;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264187;SAVANT_GENE=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;SAVANT_INFO=-/89.3kb/20/5.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.2129-7G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NID1+c.2129-7G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236180580">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,149,1889:127	0|1:24,30:54:99:1041,0,770:127	0|0:48,0:48:99:0,147,1644:127
1	236208773	.	C	T	16604.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=565;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10733133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10733133" target="_blank">rs10733133</a>;ExAC.Info.AC=61385;ExAC.Info.AN=126702;ExAC.Info.AF=0.484;ExAC.Info.AC_Het=30127;ExAC.Info.AC_Hom=15588;snpeff.Effect=sequence_feature[domain:NIDO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.736C>T;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NIDO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.736C>T;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NIDO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.736C>T;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val246Ile/c.736G>A;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264187;SAVANT_GENE=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;SAVANT_INFO=-/89.3kb/20/5.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.736G>A_p.Val246Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NID1+c.736G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236208773">View</a>	GT:AD:DP:GQ:PL:TP	0/1:73,80:153:99:2185,0,2135:127	0/1:114,98:212:99:2670,0,3611:127	0/1:105,95:200:99:2800,0,3215:127
1	236209024	.	C	G	8937.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3768088;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3768088" target="_blank">rs3768088</a>;ExAC.Info.AC=54841;ExAC.Info.AN=122650;ExAC.Info.AF=0.447;ExAC.Info.AC_Het=16043;ExAC.Info.AC_Hom=7780;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.526-41G>C;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NIDO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.526C>G;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NIDO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.526C>G;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NIDO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.526C>G;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264187;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000264187;SAVANT_GENE=NID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NID1" target="_blank">NID1</a>;SAVANT_INFO=-/89.3kb/20/5.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.526-41G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NID1+c.526-41G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236209024">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,31:56:99:960,0,684:127	0/1:38,53:91:99:1775,0,1139:127	0/1:31,41:72:99:1399,0,899:127
1	236381825	.	G	C	2611.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1055851;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1055851" target="_blank">rs1055851</a>;ExAC.Info.AC=62616;ExAC.Info.AN=126546;ExAC.Info.AF=0.495;ExAC.Info.AC_Het=28736;ExAC.Info.AC_Hom=16580;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GPR137B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR137B" target="_blank">GPR137B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caC/caG;snpeff.Amino_Acid_Change=p.His465Gln/c.1395C>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR137B" target="_blank">GPR137B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354619;SAVANT_GENE=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;SAVANT_INFO=-/66.4kb/16/4.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1395C>G_p.His465Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERO1LB+c.1395C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236381825">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,12:30:99:343,0,520:127	1|0:26,21:47:99:566,0,738:127	0|0:46,0:46:99:0,138,1744:127
1	236385360	.	C	T	4821.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2477587;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2477587" target="_blank">rs2477587</a>;ExAC.Info.AC=61860;ExAC.Info.AN=126380;ExAC.Info.AF=0.489;ExAC.Info.AC_Het=26098;ExAC.Info.AC_Hom=14987;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1123-50G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354619;SAVANT_GENE=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;SAVANT_INFO=-/66.4kb/16/4.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1123-50G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERO1LB+c.1123-50G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236385360">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,26:45:99:840,0,475:127	1|0:37,42:79:99:1244,0,958:127	0|0:79,0:79:99:0,237,2620:127
1	236413230	.	T	A	12623.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2477599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2477599" target="_blank">rs2477599</a>;ExAC.Info.AC=60653;ExAC.Info.AN=126648;ExAC.Info.AF=0.479;ExAC.Info.AC_Het=27819;ExAC.Info.AC_Hom=16329;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gTt;snpeff.Amino_Acid_Change=p.Asp129Val/c.386A>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354619;SAVANT_GENE=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;SAVANT_INFO=-/66.4kb/16/4.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.386A>T_p.Asp129Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERO1LB+c.386A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236413230">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,38:95:99:932,0,1485:127	0|1:62,55:117:99:1472,0,1559:127	1|1:0,107:107:99:3366,321,0:127
1	236413282	.	G	A	5382.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2056713;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2056713" target="_blank">rs2056713</a>;ExAC.Info.AC=34137;ExAC.Info.AN=126614;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=24183;ExAC.Info.AC_Hom=4843;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.349-15C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354619;SAVANT_GENE=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;SAVANT_INFO=-/66.4kb/16/4.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.349-15C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERO1LB+c.349-15C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236413282">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,48:77:99:1236,0,777:127	1|0:54,48:102:99:1304,0,1507:127	0|0:87,0:87:99:0,261,3082:127
1	236415347	.	T	C	6643.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1749589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1749589" target="_blank">rs1749589</a>;ExAC.Info.AC=34195;ExAC.Info.AN=126690;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=24306;ExAC.Info.AC_Hom=4924;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.348+3A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354619;SAVANT_GENE=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;SAVANT_INFO=-/66.4kb/16/4.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.348+3A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERO1LB+c.348+3A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236415347">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,29:67:99:750,0,1049:127	1|0:56,50:106:99:1416,0,1536:127	0|0:77,0:77:99:0,231,2472:127
1	236433135	.	AT	A	12549.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3834089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3834089" target="_blank">rs3834089</a>;ExAC.Info.AC=106831;ExAC.Info.AN=126578;ExAC.Info.AF=0.844;ExAC.Info.AC_Het=15653;ExAC.Info.AC_Hom=44475;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.222+39delA;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000354619;SAVANT_GENE=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;SAVANT_INFO=-/66.4kb/16/4.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.222+39delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERO1LB+c.222+39delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236433135">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:2058,154,0:125	1|1:0,44:44:99:1778,132,0:125	1|1:0,42:42:99:1678,126,0:125
1	236444973	.	C	T	2188.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1269025;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1269025" target="_blank">rs1269025</a>;ExAC.Info.AC=12085;ExAC.Info.AN=77588;ExAC.Info.AF=0.156;ExAC.Info.AC_Het=1919;ExAC.Info.AC_Hom=387;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.102+9G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354619;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354619;SAVANT_GENE=ERO1LB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERO1LB" target="_blank">ERO1LB</a>;SAVANT_INFO=-/66.4kb/16/4.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.102+9G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERO1LB+c.102+9G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236444973">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,14:34:99:316,0,558:57	1|0:6,11:17:99:320,0,158:57	0|0:19,0:19:57:0,57,740:57
1	236557771	.	G	A	22458.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=511;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Ectodermal_dysplasia_11B|_hypohidrotic/hair/tooth_type|_autosomal_recessive|_614941_(3)|_Ectodermal_dysplasia_11A|_hypohidrotic/hair/tooth_type|_614940_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs966365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=966365" target="_blank">rs966365</a>;ExAC.Info.AC=105221;ExAC.Info.AN=126704;ExAC.Info.AF=0.830;ExAC.Info.AC_Het=16568;ExAC.Info.AC_Hom=44322;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atA;snpeff.Amino_Acid_Change=p.Met9Ile/c.27G>A;snpeff.Amino_Acid_length=215;snpeff.Gene_Name=EDARADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD" target="_blank">EDARADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334232;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334232;SAVANT_GENE=EDARADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD" target="_blank">EDARADD</a>;SAVANT_INFO=+/88.4kb/6/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.27G>A_p.Met9Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDARADD+c.27G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236557771">View</a>	GT:AD:DP:GQ:PL:TP	1|0:78,86:164:99:2344,0,2259:127	0|1:101,92:193:99:2664,0,3115:127	1|1:0,154:154:99:5536,463,0:127
1	236572475	.	A	G	14418.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Ectodermal_dysplasia_11B|_hypohidrotic/hair/tooth_type|_autosomal_recessive|_614941_(3)|_Ectodermal_dysplasia_11A|_hypohidrotic/hair/tooth_type|_614940_(3);dbSNP139.ID=rs669710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=669710" target="_blank">rs669710</a>;ExAC.Info.AC=66900;ExAC.Info.AN=126666;ExAC.Info.AF=0.528;ExAC.Info.AC_Het=30164;ExAC.Info.AC_Hom=18165;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.62-41A>G;snpeff.Amino_Acid_length=215;snpeff.Gene_Name=EDARADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD" target="_blank">EDARADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334232;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334232;SAVANT_GENE=EDARADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD" target="_blank">EDARADD</a>;SAVANT_INFO=+/88.4kb/6/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.62-41A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDARADD+c.62-41A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236572475">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2652,222,0:127	1|0:36,39:75:99:1235,0,1059:127	1|1:0,73:73:99:2570,219,0:127
1	236590563	.	C	T	18026.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Ectodermal_dysplasia_11B|_hypohidrotic/hair/tooth_type|_autosomal_recessive|_614941_(3)|_Ectodermal_dysplasia_11A|_hypohidrotic/hair/tooth_type|_614940_(3);dbSNP139.ID=rs1778861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1778861" target="_blank">rs1778861</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.161-129C>T;snpeff.Amino_Acid_length=215;snpeff.Gene_Name=EDARADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD" target="_blank">EDARADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334232;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334232;SAVANT_GENE=EDARADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD" target="_blank">EDARADD</a>;SAVANT_INFO=+/88.4kb/6/0.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.161-129C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDARADD+c.161-129C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236590563">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3143,270,0:127	1|0:57,67:124:99:2043,0,1636:127	1|1:0,101:101:99:3609,304,0:127
1	236590629	.	C	T	28067.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=498;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Ectodermal_dysplasia_11B|_hypohidrotic/hair/tooth_type|_autosomal_recessive|_614941_(3)|_Ectodermal_dysplasia_11A|_hypohidrotic/hair/tooth_type|_614940_(3);dbSNP139.ID=rs636378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=636378" target="_blank">rs636378</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.161-63C>T;snpeff.Amino_Acid_length=215;snpeff.Gene_Name=EDARADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD" target="_blank">EDARADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334232;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334232;SAVANT_GENE=EDARADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD" target="_blank">EDARADD</a>;SAVANT_INFO=+/88.4kb/6/0.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.161-63C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDARADD+c.161-63C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236590629">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,127:127:99:4373,381,0:127	1|0:97,106:203:99:2860,0,2999:127	1|1:0,168:168:99:5910,505,0:127
1	236590659	.	G	C	33714.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=585;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Ectodermal_dysplasia_11B|_hypohidrotic/hair/tooth_type|_autosomal_recessive|_614941_(3)|_Ectodermal_dysplasia_11A|_hypohidrotic/hair/tooth_type|_614940_(3);dbSNP139.ID=rs636048;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=636048" target="_blank">rs636048</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.161-33G>C;snpeff.Amino_Acid_length=215;snpeff.Gene_Name=EDARADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD" target="_blank">EDARADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334232;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334232;SAVANT_GENE=EDARADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EDARADD" target="_blank">EDARADD</a>;SAVANT_INFO=+/88.4kb/6/0.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.161-33G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EDARADD+c.161-33G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236590659">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,154:154:99:5620,460,0:127	1|0:115,120:235:99:3285,0,3455:127	1|1:0,196:196:99:7078,587,0:127
1	236700807	.	T	A	25595.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=581;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1126407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1126407" target="_blank">rs1126407</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Rheumatoid_arthritis|_association_with;hgmd_2014.2.OMIM_ID=606099;hgmd_2014.2.PubMed=22683700;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=22683700" target="_blank">22683700</a>;ExAC.Info.AC=77501;ExAC.Info.AN=126704;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=28433;ExAC.Info.AC_Hom=24323;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56T>A;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56T>A;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56T>A;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56T>A;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tAt;snpeff.Amino_Acid_Change=p.Phe19Tyr/c.56T>A;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526589;SAVANT_GENE=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;SAVANT_INFO=+/34.7kb/14/6.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.56T>A_p.Phe19Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGALS8+c.56T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236700807">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,156:156:99:5113,469,0:127	1|0:117,102:219:99:2916,0,3331:127	1|0:104,102:206:99:2817,0,2903:127
1	236700823	.	T	C	29628.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=649;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1041934;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1041934" target="_blank">rs1041934</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=77523;ExAC.Info.AN=126704;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=28454;ExAC.Info.AC_Hom=24383;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.72T>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.72T>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.72T>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro24Pro/c.72T>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526589;SAVANT_GENE=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;SAVANT_INFO=+/34.7kb/14/6.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.72T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGALS8+c.72T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236700823">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,180:180:99:6167,541,0:127	1|0:133,112:245:99:3101,0,3982:127	1|0:115,109:224:99:3097,0,3302:127
1	236700857	.	C	T	34889.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=769;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1041935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1041935" target="_blank">rs1041935</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=77528;ExAC.Info.AN=126704;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=28447;ExAC.Info.AC_Hom=24431;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg36Cys/c.106C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526589;SAVANT_GENE=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;SAVANT_INFO=+/34.7kb/14/6.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.106C>T_p.Arg36Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGALS8+c.106C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236700857">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,225:225:99:7396,676,0:127	1|0:146,139:285:99:3602,0,4200:127	1|0:128,131:259:99:3601,0,3556:127
1	236700982	.	T	C	18448.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2737706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2737706" target="_blank">rs2737706</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.134+97T>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135T>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135T>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135T>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135T>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135T>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526589;SAVANT_GENE=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;SAVANT_INFO=+/34.7kb/14/6.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.134+97T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGALS8+c.134+97T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236700982">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:4248,351,0:127	1|0:60,59:119:99:1844,0,1772:127	1|0:54,61:115:99:1800,0,1583:127
1	236702374	.	G	A	4832.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2472126;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2472126" target="_blank">rs2472126</a>;ExAC.Info.AC=71039;ExAC.Info.AN=126704;ExAC.Info.AF=0.561;ExAC.Info.AC_Het=31614;ExAC.Info.AC_Hom=215;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330G>A;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330G>A;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330G>A;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu110Leu/c.330G>A;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526589;SAVANT_GENE=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;SAVANT_INFO=+/34.7kb/14/6.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.330G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGALS8+c.330G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236702374">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:870,75,0:75	1|0:20,25:45:99:682,0,602:75	1|0:26,13:39:99:322,0,729:75
1	236703832	.	CG	C	4604.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs34818366;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34818366" target="_blank">rs34818366</a>;ExAC.Info.AC=76804;ExAC.Info.AN=126486;ExAC.Info.AF=0.607;ExAC.Info.AC_Het=29744;ExAC.Info.AC_Hom=23617;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.142-87delC;snpeff.Gene_Name=RP11-385F5.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-385F54" target="_blank">RP11-385F54</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433131;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346-31delG;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-385F54" target="_blank">RP11-385F54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346delG;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-385F54" target="_blank">RP11-385F54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346delG;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-385F54" target="_blank">RP11-385F54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346delG;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-385F54" target="_blank">RP11-385F54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346delG;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-385F54" target="_blank">RP11-385F54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346delG;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-385F54" target="_blank">RP11-385F54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000526589;SAVANT_GENE=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;SAVANT_INFO=+/34.7kb/14/6.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.346-24delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGALS8+c.346-24delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236703832">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:941,93,0:93	1|0:29,20:49:99:464,0,704:93	1|0:24,21:45:99:503,0,574:93
1	236706352	.	A	C	21812.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=402;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2758174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2758174" target="_blank">rs2758174</a>;ExAC.Info.AC=77616;ExAC.Info.AN=126704;ExAC.Info.AF=0.613;ExAC.Info.AC_Het=28427;ExAC.Info.AC_Hom=24565;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.675+12A>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.142-2606T>G;snpeff.Gene_Name=RP11-385F5.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433131;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526589;SAVANT_GENE=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;SAVANT_INFO=+/34.7kb/14/6.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.675+12A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGALS8+c.675+12A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236706352">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:4165,354,0:127	1|0:72,90:162:99:2669,0,1921:127	1|0:64,58:122:99:1722,0,1955:127
1	236706780	.	C	T	6457.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2243527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243527" target="_blank">rs2243527</a>;ExAC.Info.AC=87930;ExAC.Info.AN=125650;ExAC.Info.AF=0.700;ExAC.Info.AC_Het=19883;ExAC.Info.AC_Hom=24466;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.676-80C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.142-3034G>A;snpeff.Gene_Name=RP11-385F5.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433131;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526589;SAVANT_GENE=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;SAVANT_INFO=+/34.7kb/14/6.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.676-80C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGALS8+c.676-80C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236706780">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,32:33:61:1085,61,0:61	1|0:27,18:45:99:606,0,869:61	1|0:15,23:38:99:689,0,408:61
1	236706862	.	G	C	11415.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2243525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243525" target="_blank">rs2243525</a>;ExAC.Info.AC=91183;ExAC.Info.AN=126704;ExAC.Info.AF=0.720;ExAC.Info.AC_Het=24841;ExAC.Info.AC_Hom=33122;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.142-3116C>G;snpeff.Gene_Name=RP11-385F5.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-385F54" target="_blank">RP11-385F54</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433131;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.678G>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-385F54" target="_blank">RP11-385F54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agG/agC;snpeff.Amino_Acid_Change=p.Arg226Ser/c.678G>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-385F54" target="_blank">RP11-385F54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526589;SAVANT_GENE=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;SAVANT_INFO=+/34.7kb/14/6.4kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.678G>C_p.Arg226Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGALS8+c.678G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236706862">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2109,201,0:127	1|0:44,36:80:99:981,0,1401:127	1|0:29,35:64:99:969,0,927:127
1	236708224	.	A	C	11980.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2244063;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2244063" target="_blank">rs2244063</a>;ExAC.Info.AC=77547;ExAC.Info.AN=126660;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=28280;ExAC.Info.AC_Hom=24434;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.930+9A>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.142-4478T>G;snpeff.Gene_Name=RP11-385F5.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433131;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.931A>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.931A>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.931A>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.931A>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Galectin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.931A>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527974;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526589;SAVANT_GENE=LGALS8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGALS8" target="_blank">LGALS8</a>;SAVANT_INFO=+/34.7kb/14/6.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.930+9A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGALS8+c.930+9A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236708224">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2062,174,0:127	1|0:36,51:87:99:1614,0,943:127	1|0:47,37:84:99:1072,0,1314:127
1	236716959	.	C	T	13874.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2275685;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275685" target="_blank">rs2275685</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=76993;ExAC.Info.AN=126702;ExAC.Info.AF=0.608;ExAC.Info.AC_Het=28373;ExAC.Info.AC_Hom=24299;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser2053Ser/c.6159G>A;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex43;SAVANT_HGVS=c.6159G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.6159G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236716959">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3754,312,0:127	1|0:42,43:85:99:1257,0,1201:127	1|0:45,33:78:99:936,0,1284:127
1	236717926	.	T	C	19953.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=443;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275687;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275687" target="_blank">rs2275687</a>;ExAC.Info.AC=77031;ExAC.Info.AN=126704;ExAC.Info.AF=0.608;ExAC.Info.AC_Het=28362;ExAC.Info.AC_Hom=24327;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu2017Gly/c.6050A>G;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.6050A>G_p.Glu2017Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.6050A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236717926">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,130:130:99:4471,390,0:127	1|0:88,70:158:99:1986,0,2361:127	1|0:81,74:155:99:2149,0,2288:127
1	236718620	.	T	C	15722.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1126627;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1126627" target="_blank">rs1126627</a>;ExAC.Info.AC=77025;ExAC.Info.AN=126692;ExAC.Info.AF=0.608;ExAC.Info.AC_Het=28344;ExAC.Info.AC_Hom=24321;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn1967Asp/c.5899A>G;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex41;SAVANT_HGVS=c.5899A>G_p.Asn1967Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.5899A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236718620">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2940,235,0:127	1|0:71,61:132:99:1739,0,1998:127	1|0:38,45:83:99:1429,0,1123:127
1	236719135	.	T	C	11434.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1885532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1885532" target="_blank">rs1885532</a>;ExAC.Info.AC=106635;ExAC.Info.AN=126702;ExAC.Info.AF=0.842;ExAC.Info.AC_Het=16429;ExAC.Info.AC_Hom=45098;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu1873Glu/c.5619A>G;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex39;SAVANT_HGVS=c.5619A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.5619A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236719135">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2457,198,0:127	1|0:65,39:104:99:1229,0,2148:127	1|0:54,26:80:99:763,0,1828:127
1	236719193	.	A	G	22805.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=496;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1885533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1885533" target="_blank">rs1885533</a>;ExAC.Info.AC=77023;ExAC.Info.AN=126702;ExAC.Info.AF=0.608;ExAC.Info.AC_Het=28364;ExAC.Info.AC_Hom=24326;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val1854Ala/c.5561T>C;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex39;SAVANT_HGVS=c.5561T>C_p.Val1854Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.5561T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236719193">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4416,396,0:127	1|0:112,99:211:99:2720,0,3116:127	1|0:95,58:153:99:1518,0,2828:127
1	236719259	.	G	A	27287.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=618;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1885534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1885534" target="_blank">rs1885534</a>;ExAC.Info.AC=67535;ExAC.Info.AN=126694;ExAC.Info.AF=0.533;ExAC.Info.AC_Het=27921;ExAC.Info.AC_Hom=19789;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5515-20C>T;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.5515-20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.5515-20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236719259">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,181:181:99:5663,543,0:127	1|0:142,118:260:99:3070,0,4096:127	1|0:103,74:177:99:1926,0,3180:127
1	236721610	.	G	A	11495.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2275688;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275688" target="_blank">rs2275688</a>;ExAC.Info.AC=85461;ExAC.Info.AN=126702;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=26894;ExAC.Info.AC_Hom=29274;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu1711Leu/c.5131C>T;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.5131C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.5131C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236721610">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2870,232,0:127	1|0:45,29:74:99:906,0,1557:127	1|0:25,30:55:99:919,0,811:127
1	236721660	.	T	C	22382.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=400;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275689;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275689" target="_blank">rs2275689</a>;ExAC.Info.AC=91194;ExAC.Info.AN=126704;ExAC.Info.AF=0.720;ExAC.Info.AC_Het=24824;ExAC.Info.AC_Hom=33183;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn1694Ser/c.5081A>G;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.5081A>G_p.Asn1694Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.5081A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236721660">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,142:142:99:4870,427,0:127	1|0:75,74:149:99:2077,0,2044:127	1|0:56,53:109:99:1593,0,1662:127
1	236721731	.	T	C	41561.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=496;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs819431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=819431" target="_blank">rs819431</a>;ExAC.Info.AC=126652;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=52;ExAC.Info.AC_Hom=63294;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala1670Ala/c.5010A>G;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.5010A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.5010A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236721731">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:5212,445,0:127	1|1:1,201:202:99:6862,566,0:127	1|1:0,146:146:99:4845,438,0:127
1	236723177	.	G	A	8419.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10754576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10754576" target="_blank">rs10754576</a>;ExAC.Info.AC=71771;ExAC.Info.AN=126672;ExAC.Info.AF=0.567;ExAC.Info.AC_Het=28958;ExAC.Info.AC_Hom=21079;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4647-40C>T;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.4647-40C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.4647-40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236723177">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,40:41:78:1755,78,0:78	1|0:37,21:58:99:770,0,1817:78	1|0:22,21:43:99:807,0,1058:78
1	236723178	.	C	A	8419.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10754577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10754577" target="_blank">rs10754577</a>;ExAC.Info.AC=71763;ExAC.Info.AN=126672;ExAC.Info.AF=0.567;ExAC.Info.AC_Het=28958;ExAC.Info.AC_Hom=21087;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4647-41G>T;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.4647-41G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.4647-41G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236723178">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,40:41:78:1755,78,0:78	1|0:36,21:57:99:770,0,1817:78	1|0:21,21:42:99:807,0,1058:78
1	236724504	.	G	A	9251.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1077439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1077439" target="_blank">rs1077439</a>;ExAC.Info.AC=84152;ExAC.Info.AN=126686;ExAC.Info.AF=0.664;ExAC.Info.AC_Het=27039;ExAC.Info.AC_Hom=28455;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4646+21C>T;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.4646+21C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.4646+21C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236724504">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1377,114,0:114	1|0:31,29:60:99:811,0,991:114	1|0:26,48:74:99:1337,0,816:114
1	236724605	.	G	T	14216.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1077438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1077438" target="_blank">rs1077438</a>;ExAC.Info.AC=84196;ExAC.Info.AN=126702;ExAC.Info.AF=0.665;ExAC.Info.AC_Het=27086;ExAC.Info.AC_Hom=28525;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4600-34C>A;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.4600-34C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.4600-34C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236724605">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3230,294,0:127	1|0:71,49:120:99:1209,0,2133:127	1|0:39,43:82:99:1355,0,1005:127
1	236729956	.	T	C	7035.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs653737;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=653737" target="_blank">rs653737</a>;ExAC.Info.AC=17762;ExAC.Info.AN=126694;ExAC.Info.AF=0.140;ExAC.Info.AC_Het=14649;ExAC.Info.AC_Hom=1477;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAt/tGt;snpeff.Amino_Acid_Change=p.Tyr1433Cys/c.4298A>G;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.4298A>G_p.Tyr1433Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.4298A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236729956">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,375,3969:127	0|1:69,52:121:99:1575,0,1947:127	0|1:47,64:111:99:1963,0,1207:127
1	236746275	.	G	C	16852.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2794769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794769" target="_blank">rs2794769</a>;ExAC.Info.AC=79264;ExAC.Info.AN=126678;ExAC.Info.AF=0.626;ExAC.Info.AC_Het=27890;ExAC.Info.AC_Hom=25536;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2425+38C>G;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2425+38C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.2425+38C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236746275">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3698,285,0:127	1|0:50,68:118:99:2055,0,1588:127	1|0:49,47:96:99:1570,0,1553:127
1	236746443	.	C	T	7897.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2794768;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794768" target="_blank">rs2794768</a>;ExAC.Info.AC=79319;ExAC.Info.AN=126702;ExAC.Info.AF=0.626;ExAC.Info.AC_Het=28012;ExAC.Info.AC_Hom=25637;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val765Val/c.2295G>A;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2295G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.2295G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236746443">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:1791,174,0:127	1|0:41,35:76:99:845,0,1201:127	1|0:18,36:54:99:983,0,531:127
1	236748505	.	T	C	42625.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=866;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1006456;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1006456" target="_blank">rs1006456</a>;ExAC.Info.AC=79274;ExAC.Info.AN=126688;ExAC.Info.AF=0.626;ExAC.Info.AC_Het=27895;ExAC.Info.AC_Hom=25514;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttA/ttG;snpeff.Amino_Acid_Change=p.Leu687Leu/c.2061A>G;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2061A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.2061A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236748505">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,254:254:99:8932,763,0:127	1|0:169,165:334:99:4866,0,4771:127	1|0:137,141:278:99:4231,0,3750:127
1	236749649	.	T	C	11617.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2794763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794763" target="_blank">rs2794763</a>;ExAC.Info.AC=68351;ExAC.Info.AN=126700;ExAC.Info.AF=0.539;ExAC.Info.AC_Het=28126;ExAC.Info.AC_Hom=20098;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met607Val/c.1819A>G;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1819A>G_p.Met607Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.1819A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236749649">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2356,192,0:127	1|0:53,41:94:99:1182,0,1429:127	1|0:43,36:79:99:1083,0,1153:127
1	236755814	.	G	A	11803.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2794757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794757" target="_blank">rs2794757</a>;ExAC.Info.AC=78371;ExAC.Info.AN=125112;ExAC.Info.AF=0.626;ExAC.Info.AC_Het=20329;ExAC.Info.AC_Hom=16322;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1304+9C>T;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1304+9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.1304+9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236755814">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2695,195,0:127	1|0:38,36:74:99:1295,0,1665:127	1|0:40,27:67:99:980,0,1902:127
1	236755837	.	C	T	12289.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2564739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2564739" target="_blank">rs2564739</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=79902;ExAC.Info.AN=125990;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=23271;ExAC.Info.AC_Hom=20576;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg430Arg/c.1290G>A;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1290G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.1290G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236755837">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2805,207,0:127	1|0:33,35:68:99:1268,0,1550:127	1|0:51,32:83:99:1119,0,2157:127
1	236755937	.	TA	T	3624.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs67239913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67239913" target="_blank">rs67239913</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1194-5delT;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1194delT;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1194-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.1194-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236755937">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:547,60,0:60	1|0:16,18:34:99:382,0,331:60	1|0:12,22:34:99:510,0,235:60
1	236757229	.	G	A	4344.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2794754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794754" target="_blank">rs2794754</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1193+83C>T;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1193+83C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.1193+83C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236757229">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,18:18:54:625,54,0:54	1|0:14,21:35:99:640,0,453:54	1|0:27,16:43:99:440,0,986:54
1	236758887	.	T	C	22455.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=495;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2794751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794751" target="_blank">rs2794751</a>;ExAC.Info.AC=83113;ExAC.Info.AN=126690;ExAC.Info.AF=0.656;ExAC.Info.AC_Het=26928;ExAC.Info.AC_Hom=28034;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His348Arg/c.1043A>G;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1043A>G_p.His348Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.1043A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236758887">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,150:150:99:4900,450,0:127	1|0:92,82:174:99:2339,0,2648:127	1|0:83,88:171:99:2500,0,2148:127
1	236767176	.	C	G	11982.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=180;MQ=71.13;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1529541;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1529541" target="_blank">rs1529541</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.142+78G>C;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.142+78G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.142+78G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236767176">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:2148,144,0:127	1|0:39,32:71:99:1167,0,1927:127	1|0:32,30:62:99:1150,0,1480:127
1	236767178	.	AG	A	4495.95	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=169;MQ=71.05;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs375752396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=375752396" target="_blank">rs375752396</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.142+75delC;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.142+75delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.142+75delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236767178">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,40:41:95:1020,95,0:95	1|0:43,23:66:99:388,0,2039:95	1|0:37,25:62:99:457,0,1630:95
1	236767330	.	A	G	11519.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10802551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10802551" target="_blank">rs10802551</a>;ExAC.Info.AC=84579;ExAC.Info.AN=126704;ExAC.Info.AF=0.668;ExAC.Info.AC_Het=26588;ExAC.Info.AC_Hom=28975;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser22Ser/c.66T>C;snpeff.Amino_Acid_length=2144;snpeff.Gene_Name=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366582;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366582;SAVANT_GENE=HEATR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HEATR1" target="_blank">HEATR1</a>;SAVANT_INFO=-/55.5kb/45/8.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.66T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HEATR1+c.66T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236767330">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2425,210,0:127	1|0:47,42:89:99:1309,0,1418:127	1|0:45,34:79:99:1054,0,1370:127
1	236882110	.	G	A	23847.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Cardiomyopathy|_dilated|_1AA|_612158_(3);dbSNP139.ID=rs1341865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1341865" target="_blank">rs1341865</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.242-84G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366578;SAVANT_GENE=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;SAVANT_INFO=+/78.1kb/21/4.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.242-84G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTN2+c.242-84G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236882110">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2824,232,0:127	1|1:0,105:105:99:3845,316,0:127	1|1:0,93:93:99:3501,280,0:127
1	236882303	.	T	C	43027.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=567;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Cardiomyopathy|_dilated|_1AA|_612158_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Agree_benign|_C_is_reference_sequence|_T_allele_has_0|02%_freq_in_Eur_Am_from_ESP|_2|25%_freq_in_Af_Am_from_ESP|_no_predicted_splicing_impact;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs1341864;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1341864" target="_blank">rs1341864</a>;ExAC.Info.AC=126442;ExAC.Info.AN=126704;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=260;ExAC.Info.AC_Hom=63087;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile117Ile/c.351T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366578;SAVANT_GENE=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;SAVANT_INFO=+/78.1kb/21/4.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.351T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTN2+c.351T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236882303">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,195:195:99:6322,585,0:127	1|1:0,197:197:99:6764,592,0:127	1|1:0,175:175:99:5952,525,0:127
1	236883421	.	C	T	56871.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=815;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Cardiomyopathy|_dilated|_1AA|_612158_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Agree_benign|_C_allele_17|48%_Af_Am_from_ESP|_0|47%_Eur_Am_from_ESP;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs1341863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1341863" target="_blank">rs1341863</a>;ExAC.Info.AC=122035;ExAC.Info.AN=126704;ExAC.Info.AF=0.963;ExAC.Info.AC_Het=4019;ExAC.Info.AC_Hom=59003;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn126Asn/c.378C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366578;SAVANT_GENE=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;SAVANT_INFO=+/78.1kb/21/4.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.378C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTN2+c.378C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236883421">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,253:253:99:8207,760,0:127	1|1:0,304:304:99:10285,913,0:127	1|1:1,257:258:99:8794,765,0:127
1	236894647	.	G	A	5069.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=573;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Cardiomyopathy|_dilated|_1AA|_612158_(3);dbSNP139.ID=rs819640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=819640" target="_blank">rs819640</a>;ExAC.Info.AC=48943;ExAC.Info.AN=126704;ExAC.Info.AF=0.386;ExAC.Info.AC_Het=28525;ExAC.Info.AC_Hom=10176;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.697+33G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Actin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366578;SAVANT_GENE=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;SAVANT_INFO=+/78.1kb/21/4.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.697+33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTN2+c.697+33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236894647">View</a>	GT:AD:DP:GQ:PL:TP	0|0:164,0:164:99:0,493,6001:127	0|0:207,0:207:99:0,622,7652:127	0|1:110,92:202:99:2554,0,3235:127
1	236899899	.	TC	T	10682.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=?Cardiomyopathy|_dilated|_1AA|_612158_(3);dbSNP139.ID=rs11355106;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11355106" target="_blank">rs11355106</a>;ExAC.Info.AC=9609;ExAC.Info.AN=16392;ExAC.Info.AF=0.586;ExAC.Info.AC_Het=3044;ExAC.Info.AC_Hom=2683;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.784-522delC;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366578;SAVANT_GENE=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;SAVANT_INFO=+/78.1kb/21/4.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.784-518delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTN2+c.784-518delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236899899">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1863,172,0:127	1|1:0,60:60:99:1960,181,0:127	1|0:20,32:52:99:843,0,497:127
1	236900598	.	CAT	C	179.13	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Cardiomyopathy|_dilated|_1AA|_612158_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.876+85_876+86delAT;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Spectrin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877_878delAT;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Spectrin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877_878delAT;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Spectrin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877_878delAT;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877_878delAT;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877_878delAT;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366578;SAVANT_GENE=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;SAVANT_INFO=+/78.1kb/21/4.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.876+103_876+104delAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTN2+c.876+103_876+104delAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236900598">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,879:66	0|0:32,0:32:96:0,96,1191:66	0|1:27,6:33:68:68,0,833:66
1	236902594	.	C	G	30412.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=465;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=?Cardiomyopathy|_dilated|_1AA|_612158_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign_based_on_frequency|C_allele_1924/8600_(22|37%)_Eur_Am|_970/4406_(22|02%)_Af_Am_alleles|_EVS_data_accessed_from_Alamut_3-4-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs2288601;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2288601" target="_blank">rs2288601</a>;ExAC.Info.AC=98262;ExAC.Info.AN=126702;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=21985;ExAC.Info.AC_Hom=38101;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000123510|RCV000036923;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.877-8C>G;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Spectrin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877C>G;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Spectrin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877C>G;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Spectrin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877C>G;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877C>G;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877C>G;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.877C>G;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366578;SAVANT_GENE=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;SAVANT_INFO=+/78.1kb/21/4.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.877-8C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTN2+c.877-8C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236902594">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000123510%20OR%20RCV000036923" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,141:141:99:4967,423,0:127	1|1:0,142:142:99:5077,426,0:127	1|0:95,87:182:99:2507,0,2561:127
1	236902865	.	A	C	21116.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=410;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Cardiomyopathy|_dilated|_1AA|_612158_(3);dbSNP139.ID=rs2288602;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2288602" target="_blank">rs2288602</a>;ExAC.Info.AC=71946;ExAC.Info.AN=126434;ExAC.Info.AF=0.569;ExAC.Info.AC_Het=26093;ExAC.Info.AC_Hom=19853;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1107+33A>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108A>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108A>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Spectrin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108A>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Spectrin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108A>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Spectrin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1108A>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366578;SAVANT_GENE=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;SAVANT_INFO=+/78.1kb/21/4.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1107+33A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTN2+c.1107+33A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236902865">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:4586,413,0:127	1|0:79,71:150:99:1978,0,2196:127	1|0:52,70:122:99:1907,0,1409:127
1	236924506	.	A	G	23500.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=351;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=?Cardiomyopathy|_dilated|_1AA|_612158_(3);dbSNP139.ID=rs2282366;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282366" target="_blank">rs2282366</a>;ExAC.Info.AC=107550;ExAC.Info.AN=126682;ExAC.Info.AF=0.849;ExAC.Info.AC_Het=15600;ExAC.Info.AC_Hom=45585;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2526+33A>G;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366578;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366578;SAVANT_GENE=ACTN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2" target="_blank">ACTN2</a>;SAVANT_INFO=+/78.1kb/21/4.9kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2526+33A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTN2+c.2526+33A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236924506">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3568,313,0:127	1|1:0,148:148:99:4978,444,0:127	1|0:48,51:99:99:1478,0,1293:127
1	236934959	.	A	G	28275.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=488;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10802563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10802563" target="_blank">rs10802563</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10802563" target="_blank">rs10802563</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:236934959">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4391,399,0:127	1|1:0,191:191:99:6489,573,0:127	1|0:78,86:164:99:2298,0,2095:127
1	237038161	.	T	C	28402.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=517;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Homocystinuria-megaloblastic_anemia|_cblG_complementation_type|_250940_(3)|_{Neural_tube_defects|_folate-sensitive|_susceptibility_to}|_601634_(3);dbSNP139.ID=rs1770449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1770449" target="_blank">rs1770449</a>;ExAC.Info.AC=40007;ExAC.Info.AN=126694;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=26109;ExAC.Info.AC_Hom=6839;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126867;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2594+15T>C;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B12-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595T>C;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B12-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595T>C;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B12-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595T>C;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B12-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595T>C;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B12-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595T>C;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.2595T>C;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.2595T>C;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366577;SAVANT_GENE=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;SAVANT_INFO=+/108.7kb/33/10.5kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.2594+15T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTR+c.2594+15T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237038161">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126867" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,146:146:99:5129,439,0:127	1|0:109,100:209:99:2840,0,3410:127	1|1:0,162:162:99:5494,486,0:127
1	237048500	.	A	G	8016.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=872;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Homocystinuria-megaloblastic_anemia|_cblG_complementation_type|_250940_(3)|_{Neural_tube_defects|_folate-sensitive|_susceptibility_to}|_601634_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1805087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1805087" target="_blank">rs1805087</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Coronary_artery_disease_in_smokers|_association;hgmd_2014.2.OMIM_ID=156570;hgmd_2014.2.PubMed=9919998;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=9919998" target="_blank">9919998</a>;ExAC.Info.AC=26349;ExAC.Info.AN=126700;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=20306;ExAC.Info.AC_Hom=3011;Clinvar.ClinicalSignificance=Benign|Uncertain_significance;Clinvar.RCVaccession=RCV000144923|RCV000126868;Clinvar.PhenotypeIDs=MedGen:C0238198|OMIM:606764|Orphanet:ORPHA44890|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp919Gly/c.2756A>G;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366577;SAVANT_GENE=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;SAVANT_INFO=+/108.7kb/33/10.5kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.2756A>G_p.Asp919Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTR+c.2756A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237048500">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144923%20OR%20RCV000126868" target="_blank">Benign|Uncertain_significance</a> 	GT:AD:DP:GQ:PL:TP	0|0:265,0:265:99:0,796,8442:127	0|1:149,140:289:99:4027,0,3983:127	0|0:318,0:318:99:0,954,10431:127
1	237048562	.	G	A	4114.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Homocystinuria-megaloblastic_anemia|_cblG_complementation_type|_250940_(3)|_{Neural_tube_defects|_folate-sensitive|_susceptibility_to}|_601634_(3);dbSNP139.ID=rs2275566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275566" target="_blank">rs2275566</a>;ExAC.Info.AC=85501;ExAC.Info.AN=126586;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=25426;ExAC.Info.AC_Hom=28017;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2775+43G>A;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776G>A;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776G>A;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776G>A;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776G>A;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776G>A;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776G>A;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776G>A;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2776G>A;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366577;SAVANT_GENE=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;SAVANT_INFO=+/108.7kb/33/10.5kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2775+43G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTR+c.2775+43G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237048562">View</a>	GT:AD:DP:GQ:PL:TP	0|0:147,0:147:99:0,442,5347:127	0|1:80,75:155:99:2076,0,2398:127	0|0:189,0:189:99:0,568,6888:127
1	237058828	.	C	T	2478.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Homocystinuria-megaloblastic_anemia|_cblG_complementation_type|_250940_(3)|_{Neural_tube_defects|_folate-sensitive|_susceptibility_to}|_601634_(3);dbSNP139.ID=rs1131449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131449" target="_blank">rs1131449</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=66249;ExAC.Info.AN=123184;ExAC.Info.AF=0.538;ExAC.Info.AC_Het=17377;ExAC.Info.AC_Hom=11551;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126863;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3576C>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3576C>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3576C>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3576C>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3576C>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3576C>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3576C>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3576C>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3576C>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu1192Leu/c.3576C>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366577;SAVANT_GENE=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;SAVANT_INFO=+/108.7kb/33/10.5kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.3576C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTR+c.3576C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237058828">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126863" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2138:127	0|1:37,38:75:99:1258,0,1071:127	0|0:67,0:67:99:0,201,2236:127
1	237060433	.	G	T	3274.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Homocystinuria-megaloblastic_anemia|_cblG_complementation_type|_250940_(3)|_{Neural_tube_defects|_folate-sensitive|_susceptibility_to}|_601634_(3);dbSNP139.ID=rs3820571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3820571" target="_blank">rs3820571</a>;ExAC.Info.AC=85544;ExAC.Info.AN=126704;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=26682;ExAC.Info.AC_Hom=29426;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126864;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3711+15G>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3712G>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3712G>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3712G>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3712G>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3712G>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3712G>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3712G>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3712G>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3712G>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AdoMet_activation];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3712G>T;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366577;SAVANT_GENE=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;SAVANT_INFO=+/108.7kb/33/10.5kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.3711+15G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTR+c.3711+15G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237060433">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126864" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,3215:127	0|1:72,61:133:99:1656,0,2265:127	0|0:86,0:86:99:0,258,3096:127
1	237060945	.	CT	C	3223.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Homocystinuria-megaloblastic_anemia|_cblG_complementation_type|_250940_(3)|_{Neural_tube_defects|_folate-sensitive|_susceptibility_to}|_601634_(3);dbSNP139.ID=rs67705775;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67705775" target="_blank">rs67705775</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2;snpeff.Amino_Acid_Change=c.*2delT;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366577;SAVANT_GENE=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;SAVANT_INFO=+/108.7kb/33/10.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*16delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTR+c.*16delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237060945">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,13:69:71:71,0,1094:71	0/1:47,66:113:99:1176,0,842:71	0/1:49,23:72:99:265,0,1013:71
1	237061056	.	A	C	8276.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=873;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Homocystinuria-megaloblastic_anemia|_cblG_complementation_type|_250940_(3)|_{Neural_tube_defects|_folate-sensitive|_susceptibility_to}|_601634_(3);dbSNP139.ID=rs2853522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2853522" target="_blank">rs2853522</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=112;snpeff.Amino_Acid_Change=c.*112A>C;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366577;SAVANT_GENE=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;SAVANT_INFO=+/108.7kb/33/10.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*112A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTR+c.*112A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237061056">View</a>	GT:AD:DP:GQ:PL:TP	0|0:268,0:268:99:0,803,7800:127	0|1:166,159:325:99:4157,0,4021:127	0|0:280,0:280:99:0,839,8459:127
1	237063335	.	G	C	5850.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=546;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Homocystinuria-megaloblastic_anemia|_cblG_complementation_type|_250940_(3)|_{Neural_tube_defects|_folate-sensitive|_susceptibility_to}|_601634_(3);dbSNP139.ID=rs1050996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1050996" target="_blank">rs1050996</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2391;snpeff.Amino_Acid_Change=c.*2391G>C;snpeff.Amino_Acid_length=1265;snpeff.Gene_Name=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366577;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366577;SAVANT_GENE=MTR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTR" target="_blank">MTR</a>;SAVANT_INFO=+/108.7kb/33/10.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2391G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTR+c.*2391G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237063335">View</a>	GT:AD:DP:GQ:PL:TP	0|0:144,0:144:99:0,432,4750:127	0|1:114,101:215:99:2944,0,3232:127	0|0:187,0:187:99:0,562,6036:127
1	237551376	.	T	A	4140.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=517;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_A_allele_is_major_allele_for_Eur_Am|_T_allele_is_major_allele_for_Af_Am|_see_freq_below|T_allele_3656/8304_(44|03%)_Eur_Am|_A_allele_1788/3902_(45|82%)_Af_Am_alleles|_EVS_data_accessed_from_Alamut_2-25-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs10754602;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10754602" target="_blank">rs10754602</a>;ExAC.Info.AC=70580;ExAC.Info.AN=124940;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=29409;ExAC.Info.AC_Hom=20089;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036781;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.671-11T>A;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.677-11T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.677-11T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237551376">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036781" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:184,0:184:99:0,553,6138:127	0|0:193,2:195:99:0,537,6532:127	0|1:67,71:138:99:2089,0,1832:127
1	237586384	.	T	C	6802.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=633;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs16835237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16835237" target="_blank">rs16835237</a>;ExAC.Info.AC=17347;ExAC.Info.AN=124946;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=13981;ExAC.Info.AC_Hom=1677;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036800;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.843-8T>C;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.843T>C;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.849-8T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.849-8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237586384">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036800" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:187,0:187:99:0,561,6036:127	0|0:228,0:228:99:0,685,7687:127	0|1:107,111:218:99:3420,0,2959:127
1	237617757	.	C	T	22944.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs3765097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3765097" target="_blank">rs3765097</a>;ExAC.Info.AC=71786;ExAC.Info.AN=124900;ExAC.Info.AF=0.575;ExAC.Info.AC_Het=29168;ExAC.Info.AC_Hom=21243;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036681;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser451Ser/c.1353C>T;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1359C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.1359C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237617757">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036681" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:3754,360,0:127	1|0:83,78:161:99:1985,0,2465:127	1|1:0,114:114:99:3829,342,0:127
1	237619875	.	A	AT	4279.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=189;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs5781961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5781961" target="_blank">rs5781961</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1471-24_1471-23insT;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1477-11dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.1477-11dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237619875">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,45:54:54:871,0,54:52	0/1:55,29:84:99:366,0,1041:52	0/1:8,43:51:57:784,0,57:52
1	237620049	.	T	C	19422.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs2045955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2045955" target="_blank">rs2045955</a>;ExAC.Info.AC=68711;ExAC.Info.AN=124850;ExAC.Info.AF=0.550;ExAC.Info.AC_Het=29252;ExAC.Info.AC_Hom=19651;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036708;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1606+14T>C;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1612+14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.1612+14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237620049">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036708" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2589,219,0:127	1|0:53,49:102:99:1573,0,1509:127	1|1:0,75:75:99:2768,225,0:127
1	237670140	.	A	G	4638.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_G_is_the_major_allele_at_this_position|_see_frequencies_of_A_below||A_allele_2795/8168_(34|22%)_Eur_Am|_629/3658_(17|2%)_Af_Am|_EVS_data_accessed_from_Alamut_2-25-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs2618702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2618702" target="_blank">rs2618702</a>;ExAC.Info.AC=82827;ExAC.Info.AN=124740;ExAC.Info.AF=0.664;ExAC.Info.AC_Het=25537;ExAC.Info.AC_Hom=26030;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2712+26A>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2718+26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.2718+26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237670140">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,426,5107:127	0|0:195,1:196:99:0,552,7064:127	0|1:76,77:153:99:2338,0,2496:127
1	237675134	.	GAA	G	1123.31	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=80;MQ=69.94;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2816+44_2816+45delAA;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.2822+67_2822+68delAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.2822+67_2822+68delAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237675134">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,12:25:99:142,0,235:127	0/1:18,19:37:99:317,0,300:127	0/1:11,7:18:99:136,0,216:127
1	237711797	.	A	G	25424.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_A_allele_is_actually_minor_allele_in_both_Eur_Am_and_Af_Am_from_ESP||A_allele_343/8256_(4|15%)_Eur_Am|_1458/3840_(37|97%)_Af_Am_alleles|_EVS_data_accessed_from_Alamut_2-25-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs2253273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2253273" target="_blank">rs2253273</a>;ExAC.Info.AC=115668;ExAC.Info.AN=124908;ExAC.Info.AF=0.926;ExAC.Info.AC_Het=7193;ExAC.Info.AC_Hom=54117;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036722;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser989Ser/c.2967A>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.2973A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.2973A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237711797">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036722" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2964,252,0:127	1|1:0,136:136:99:4607,408,0:127	1|1:0,112:112:99:3871,337,0:127
1	237729774	.	G	A	55935.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=727;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs2248295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2248295" target="_blank">rs2248295</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3209-93G>A;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3215-93G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.3215-93G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237729774">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,221:221:99:8172,665,0:127	1|1:0,279:279:99:10193,838,0:127	1|1:0,227:227:99:8586,686,0:127
1	237730124	.	A	G	41397.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=509;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs2805390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2805390" target="_blank">rs2805390</a>;ExAC.Info.AC=119664;ExAC.Info.AN=125016;ExAC.Info.AF=0.957;ExAC.Info.AC_Het=4499;ExAC.Info.AC_Hom=57409;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3417+49A>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.3423+49A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.3423+49A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237730124">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,144:144:99:4888,432,0:127	1|1:0,193:193:99:6613,579,0:127	1|1:0,172:172:99:5968,517,0:127
1	237730169	.	C	T	37923.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=494;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs2779401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2779401" target="_blank">rs2779401</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3417+94C>T;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.3423+94C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.3423+94C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237730169">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,150:150:99:4874,451,0:127	1|1:0,197:197:99:6668,592,0:127	1|1:0,147:147:99:4935,442,0:127
1	237732673	.	C	T	20641.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs12740534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12740534" target="_blank">rs12740534</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3592+54C>T;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.3598+54C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.3598+54C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237732673">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,123:123:99:4061,370,0:127	1|0:73,70:143:99:2071,0,2433:127	1|0:55,74:129:99:2211,0,1762:127
1	237753074	.	AT	A	16522.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=436;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Kotzer;dbSNP139.ID=rs11331089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11331089" target="_blank">rs11331089</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3593-18delT;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.3599-9delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.3599-9delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237753074">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,105:106:99:2900,291,0:127	1|0:87,86:173:99:1879,0,1965:127	1|0:72,85:157:99:1921,0,1583:127
1	237754340	.	A	G	19489.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=398;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs1332777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1332777" target="_blank">rs1332777</a>;ExAC.Info.AC=51292;ExAC.Info.AN=123420;ExAC.Info.AF=0.416;ExAC.Info.AC_Het=19851;ExAC.Info.AC_Hom=8422;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4154+48A>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In31/32;SAVANT_HGVS=c.4160+48A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.4160+48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237754340">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,122:123:99:4486,330,0:127	1|0:77,73:150:99:2205,0,2489:127	1|0:56,69:125:99:2174,0,1602:127
1	237755188	.	C	T	33624.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=676;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs2618713;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2618713" target="_blank">rs2618713</a>;ExAC.Info.AC=50996;ExAC.Info.AN=123738;ExAC.Info.AF=0.412;ExAC.Info.AC_Het=18807;ExAC.Info.AC_Hom=7908;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4269+35C>T;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.4275+35C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.4275+35C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237755188">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,202:202:99:7172,607,0:127	1|0:123,152:275:99:4726,0,4101:127	1|0:94,105:199:99:3240,0,3066:127
1	237755203	.	T	C	28153.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=536;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs2779430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2779430" target="_blank">rs2779430</a>;ExAC.Info.AC=49852;ExAC.Info.AN=121772;ExAC.Info.AF=0.409;ExAC.Info.AC_Het=13787;ExAC.Info.AC_Hom=5692;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4269+50T>C;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.4275+50T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.4275+50T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237755203">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,161:161:99:6214,484,0:127	1|0:109,116:225:99:3945,0,3393:127	1|0:76,74:150:99:2475,0,2293:127
1	237796837	.	G	A	13298.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs10802626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10802626" target="_blank">rs10802626</a>;ExAC.Info.AC=45382;ExAC.Info.AN=124892;ExAC.Info.AF=0.363;ExAC.Info.AC_Het=28367;ExAC.Info.AC_Hom=8482;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6550-41G>A;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In42/43;SAVANT_HGVS=c.6556-41G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.6556-41G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237796837">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2171,184,0:127	1|0:37,53:90:99:1531,0,1112:127	1|0:24,38:62:99:1278,0,768:127
1	237797082	.	T	G	8942.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs1967579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1967579" target="_blank">rs1967579</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6682+72T>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In43/44;SAVANT_HGVS=c.6688+72T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.6688+72T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237797082">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2217,180,0:127	1|0:42,39:81:99:1185,0,1347:127	1|0:28,43:71:99:1254,0,872:127
1	237797103	.	C	A	5951.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs1967580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1967580" target="_blank">rs1967580</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6682+93C>A;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In43/44;SAVANT_HGVS=c.6688+93C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.6688+93C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237797103">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1419,117,0:116	1|0:27,24:51:99:690,0,860:116	1|0:16,32:48:99:984,0,440:116
1	237798342	.	G	A	7943.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs41305973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41305973" target="_blank">rs41305973</a>;ExAC.Info.AC=6002;ExAC.Info.AN=118436;ExAC.Info.AF=0.051;ExAC.Info.AC_Het=2073;ExAC.Info.AC_Hom=126;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6786+50G>A;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In44/45;SAVANT_HGVS=c.6792+50G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.6792+50G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237798342">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,49:89:99:1489,0,1080:127	1|0:57,71:128:99:2183,0,1717:127	0|0:91,0:91:99:0,273,3148:127
1	237801770	.	T	C	82862.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_C_is_actually_major_allele_in_both_Eur_Am_and_Af_Am_ESP_data_(reference_sequence_is_wrong)|_ESP:_Eur|_Am|:_T:0|06%_-_Afr|_Am|:_T:12|94%|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs707189;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=707189" target="_blank">rs707189</a>;ExAC.Info.AC=123423;ExAC.Info.AN=124854;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1245;ExAC.Info.AC_Hom=61062;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036783;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu2300Leu/c.6900T>C;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=Ex45;SAVANT_HGVS=c.6906T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.6906T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237801770">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036783" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,353:353:99:12464,1061,0:127	1|1:0,416:416:99:15080,1250,0:127	1|1:0,346:346:99:12229,1040,0:127
1	237802559	.	T	C	11018.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs530109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=530109" target="_blank">rs530109</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7109+58T>C;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In46/47;SAVANT_HGVS=c.7115+58T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.7115+58T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237802559">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1588,129,0:122	1|1:0,45:45:99:1777,135,0:122	1|1:0,41:41:99:1663,123,0:122
1	237813126	.	A	G	30371.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=660;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs625006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=625006" target="_blank">rs625006</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7507-51A>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In49/50;SAVANT_HGVS=c.7513-51A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.7513-51A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237813126">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,201:201:99:6916,603,0:127	1|0:119,133:252:99:3826,0,3416:127	1|0:112,95:207:99:2808,0,3209:127
1	237814783	.	C	T	27708.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=659;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign_based_on_frequency|T_allele_3575/8198_(43|61%)_Eur_Am|_1777/3676_(48|34%)_Af_Am_alleles|_EVS_data_accessed_from_Alamut_2-25-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs684923;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=684923" target="_blank">rs684923</a>;ExAC.Info.AC=53310;ExAC.Info.AN=122004;ExAC.Info.AF=0.437;ExAC.Info.AC_Het=17804;ExAC.Info.AC_Hom=7609;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036793;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His2600His/c.7800C>T;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=Ex51;SAVANT_HGVS=c.7806C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.7806C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237814783">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036793" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,196:196:99:6406,588,0:127	1|0:124,122:246:99:3533,0,3497:127	1|0:110,107:217:99:3221,0,2993:127
1	237862164	.	G	C	13858.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs1521745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1521745" target="_blank">rs1521745</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9062-101G>C;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In63/64;SAVANT_HGVS=c.9068-101G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.9068-101G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237862164">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,66:121:99:2176,0,1797:127	0/1:78,82:160:99:2634,0,2504:127	0/1:76,70:146:99:2313,0,2573:127
1	237863718	.	T	G	46573.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=652;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_T_is_actually_minor_allele_for_both_Eur_Am_and_Af_Am_(reference_sequence_is_wrong)_from_ESP:_Eur|_Am|:_T:0|05%_-_Afr|_Am|:_T:8|87%;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs2797436;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2797436" target="_blank">rs2797436</a>;ExAC.Info.AC=123649;ExAC.Info.AN=124752;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=910;ExAC.Info.AC_Hom=58995;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036803;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcG;snpeff.Amino_Acid_Change=p.Ser3104Ser/c.9312T>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=66;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=Ex65;SAVANT_HGVS=c.9318T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.9318T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237863718">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036803" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,210:210:99:6839,630,0:127	1|1:0,258:258:99:8471,775,0:127	1|1:0,184:184:99:6177,553,0:127
1	237865203	.	C	T	29992.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs939699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=939699" target="_blank">rs939699</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9362-75C>T;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=66;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In65/66;SAVANT_HGVS=c.9368-75C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.9368-75C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237865203">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4265,373,0:127	1|1:0,144:144:99:5106,433,0:127	1|1:0,153:153:99:5440,460,0:127
1	237880494	.	A	G	4046.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=503;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs72751287;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72751287" target="_blank">rs72751287</a>;ExAC.Info.AC=197;ExAC.Info.AN=124992;ExAC.Info.AF=1.576e-03;ExAC.Info.AC_Het=194;ExAC.Info.AC_Hom=1;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036649;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10318-4A>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=72;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.10318A>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=72;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In71/72;SAVANT_HGVS=c.10324-4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.10324-4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237880494">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036649" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,427,4900:127	0|0:213,0:213:99:0,640,7346:127	0|1:74,74:148:99:2042,0,2192:127
1	237881770	.	C	T	46781.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=671;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_T_is_the_major_allele_at_this_position|_see_frequencies_below|C_allele_4/8174_(0|05%)_Eur_Am|_451/3680_(12|26%)_Af_Am_alleles|_EVS_data_accessed_from_Alamut_3-7-2014|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs2797441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2797441" target="_blank">rs2797441</a>;ExAC.Info.AC=123367;ExAC.Info.AN=124770;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1209;ExAC.Info.AC_Hom=60876;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036650;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr3499Thr/c.10497C>T;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=74;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=Ex73;SAVANT_HGVS=c.10503C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.10503C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237881770">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036650" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,217:217:99:7420,652,0:127	1|1:0,259:259:99:8937,778,0:127	1|1:0,195:195:99:6718,586,0:127
1	237890437	.	C	T	37911.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=512;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_C_is_minor_allele_at_this_position_(reference_sequence_is_wrong):_ESP:_Eur|_Am|:_C:0|05%_-_Afr|_Am|:_C:12|46%;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs2685301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2685301" target="_blank">rs2685301</a>;ExAC.Info.AC=123410;ExAC.Info.AN=124816;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1215;ExAC.Info.AC_Hom=61022;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036653;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser3590Ser/c.10770C>T;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=77;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=Ex76;SAVANT_HGVS=c.10776C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.10776C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237890437">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036653" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,170:170:99:5440,511,0:127	1|1:1,193:194:99:6435,575,0:127	1|1:0,148:148:99:4967,444,0:127
1	237893674	.	C	T	31250.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_T_allele_is_major_allele_at_this_position|_see_below_for_frequencies|Eur|_Am|:_C:0|02%_-_Afr|_Am|:_C:4|64%_in_ESP_database_through_Alamut_3-7-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs2797445;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2797445" target="_blank">rs2797445</a>;ExAC.Info.AC=124140;ExAC.Info.AN=124712;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=519;ExAC.Info.AC_Hom=60620;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10929+18C>T;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=78;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In77/78;SAVANT_HGVS=c.10935+18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.10935+18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237893674">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4505,397,0:127	1|1:0,172:172:99:5748,517,0:127	1|1:0,111:111:99:3701,333,0:127
1	237895216	.	A	ACACACACACC	951.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=144;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10930-129_10930-128insCACACACACC;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=78;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In77/78;SAVANT_HGVS=c.10936-127_10936-126insACACACCCAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.10936-127_10936-126insACACACCCAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237895216">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,160,2039:127	0|0:53,0:53:99:0,160,2008:127	0|1:22,16:38:99:499,0,621:127
1	237905568	.	T	TC	365.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=135;MQ=70.04;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs35446101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35446101" target="_blank">rs35446101</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11086-27_11086-26insC;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In79/80;SAVANT_HGVS=c.11092-26dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.11092-26dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237905568">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,129,1627:127	0|0:67,0:67:99:0,202,2345:127	0|1:15,11:26:99:206,0,488:127
1	237905570	.	CT	C	530.99	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=136;MQ=70.03;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11086-25delT;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=80;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In79/80;SAVANT_HGVS=c.11092-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.11092-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237905570">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,15:40:99:233,0,417:38	1|0:52,9:61:37:37,0,960:38	0|0:32,3:35:39:0,39,964:38
1	237923053	.	C	T	25828.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=404;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_Benign|_T_is_the_major_allele_at_this_position|_see_freq_below||C_allele_2513/8168_(30|77%)_Eur_Am|_733/3678_(19|93%)_Af_Am|_EVS_data_accessed_from_Alamut_2-25-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs2253831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2253831" target="_blank">rs2253831</a>;ExAC.Info.AC=88730;ExAC.Info.AN=124832;ExAC.Info.AF=0.711;ExAC.Info.AC_Het=25310;ExAC.Info.AC_Hom=31651;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11344-23C>T;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=84;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0059.1:Cmyc];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0059.1:Cmyc];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0147.1:Cmyc];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0058.1:Max];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In82/83;SAVANT_HGVS=c.11326-23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.11326-23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237923053">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:4042,361,0:127	1|1:0,155:155:99:5261,466,0:127	1|0:65,64:129:99:1708,0,1997:127
1	237946964	.	T	C	4536.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs790889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=790889" target="_blank">rs790889</a>;ExAC.Info.AC=45126;ExAC.Info.AN=124412;ExAC.Info.AF=0.363;ExAC.Info.AC_Het=22854;ExAC.Info.AC_Hom=7304;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036668;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11981-11T>C;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=91;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In89/90;SAVANT_HGVS=c.11963-11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.11963-11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237946964">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036668" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:30,30:60:99:874,0,960:127	0/1:39,21:60:99:596,0,1125:127	0/1:25,23:48:99:692,0,697:127
1	237951451	.	A	G	17963.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=533;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=Eval_2:_benign|_G_is_actually_major_allele_at_this_position|_see_frequencies_below|A_allele_3818/8378_(45|57%)_Eur_Am|_924/4024_(22|96%)_Af_Am_alleles|_EVS_data_accessed_from_Alamut_2-17-14|;ExperienceDB.Submitter=Moyer;dbSNP139.ID=rs2256242;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2256242" target="_blank">rs2256242</a>;ExAC.Info.AC=69564;ExAC.Info.AN=124968;ExAC.Info.AF=0.557;ExAC.Info.AC_Het=28198;ExAC.Info.AC_Hom=18414;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000079376;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13494+16A>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=94;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In92/93;SAVANT_HGVS=c.13476+16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.13476+16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237951451">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000079376" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:73,95:168:99:3154,0,1998:127	0/1:116,83:199:99:2734,0,3621:127	0/1:84,82:166:99:2691,0,2544:127
1	237957146	.	G	A	28822.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=664;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs790902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=790902" target="_blank">rs790902</a>;ExAC.Info.AC=87498;ExAC.Info.AN=124666;ExAC.Info.AF=0.702;ExAC.Info.AC_Het=22023;ExAC.Info.AC_Hom=27379;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13801-21G>A;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=96;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In94/95;SAVANT_HGVS=c.13783-21G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.13783-21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237957146">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,101:188:99:3939,0,4440:127	0|0:259,0:259:99:0,807,15041:127	1|1:0,217:217:99:9912,674,0:127
1	237957161	.	A	G	32750.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=799;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs790901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=790901" target="_blank">rs790901</a>;ExAC.Info.AC=91049;ExAC.Info.AN=124772;ExAC.Info.AF=0.730;ExAC.Info.AC_Het=22384;ExAC.Info.AC_Hom=32805;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127854|RCV000036684;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13801-6A>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=96;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13801A>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=96;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In94/95;SAVANT_HGVS=c.13783-6A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.13783-6A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237957161">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127854%20OR%20RCV000036684" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:113,117:230:99:4447,0,5160:127	0|0:313,0:313:99:0,945,16657:127	1|1:0,256:256:99:11225,773,0:127
1	237957309	.	A	C	22423.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=659;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs790900;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=790900" target="_blank">rs790900</a>;ExAC.Info.AC=90344;ExAC.Info.AN=124792;ExAC.Info.AF=0.724;ExAC.Info.AC_Het=23308;ExAC.Info.AC_Hom=32987;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000036685;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13931+12A>C;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=97;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In95/96;SAVANT_HGVS=c.13913+12A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.13913+12A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237957309">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000036685" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:112,85:197:99:2581,0,3113:127	0|0:259,0:259:99:0,778,8924:127	1|1:0,203:203:99:7716,610,0:127
1	237965094	.	G	T	3443.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs2794820;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2794820" target="_blank">rs2794820</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14109-62G>T;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=99;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In97/98;SAVANT_HGVS=c.14091-62G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.14091-62G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237965094">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,19:70:99:494,0,1414:127	0|0:72,0:72:99:0,215,2291:127	1|0:25,18:43:99:549,0,812:127
1	237965131	.	G	A	4972.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;dbSNP139.ID=rs9428384;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9428384" target="_blank">rs9428384</a>;ExAC.Info.AC=51686;ExAC.Info.AN=124790;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=28419;ExAC.Info.AC_Hom=10701;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14109-25G>A;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=99;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In97/98;SAVANT_HGVS=c.14091-25G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.14091-25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237965131">View</a>	GT:AD:DP:GQ:PL:TP	1|0:64,38:102:99:997,0,1852:127	0|0:102,0:102:99:0,306,3510:127	1|0:42,27:69:99:885,0,1236:127
1	237965133	.	AT	A	251.95	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);ExperienceDB.ASSAY=CM-NS-valid;ExperienceDB.CLASS=NON_PATHOGENIC;ExperienceDB.NOTES=none;ExperienceDB.Submitter=Baudhuin;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14109-22delT;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=99;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In97/98;SAVANT_HGVS=c.14091-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.14091-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237965133">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,7:81:68:0,68,1794:58	0|1:84,14:98:71:71,0,1880:58	0|1:50,10:60:59:59,0,1140:58
1	237990122	.	A	G	21340.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=734;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Ventricular_tachycardia|_catecholaminergic_polymorphic|_1|_604772_(3)|_Arrhythmogenic_right_ventricular_dysplasia_2|_600996_(3);dbSNP139.ID=rs2819742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2819742" target="_blank">rs2819742</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14609-1559A>G;snpeff.Amino_Acid_length=4973;snpeff.Gene_Name=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360064;snpeff.Exon_Rank=103;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366574;SAVANT_GENE=RYR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR2" target="_blank">RYR2</a>;SAVANT_INFO=+/791.8kb/105/16.6kb;SAVANT_LOC=In101/102;SAVANT_HGVS=c.14591-1559A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RYR2+c.14591-1559A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:237990122">View</a>	GT:AD:DP:GQ:PL:TP	0/1:113,110:223:99:2919,0,3039:127	0/1:155,126:281:99:3405,0,4359:127	0/1:132,98:230:99:2691,0,3776:127
1	238045995	.	T	C	6244.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2275694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275694" target="_blank">rs2275694</a>;ExAC.Info.AC=29510;ExAC.Info.AN=126678;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=21905;ExAC.Info.AC_Hom=3719;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.410+127T>C;snpeff.Gene_Name=RP11-193H5.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000450451;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1495+47A>G;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-193H51" target="_blank">RP11-193H51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366570;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366570;SAVANT_GENE=ZP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP4" target="_blank">ZP4</a>;SAVANT_INFO=-/8.4kb/12/1.8kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1495+47A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZP4+c.1495+47A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:238045995">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,35:61:99:1063,0,654:127	1|0:42,50:92:99:1540,0,1261:127	0|0:45,0:45:99:0,135,1665:127
1	239882599	.	C	T	27133.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=508;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Eagle-Barrett_syndrome|_100100_(3);dbSNP139.ID=rs717227;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=717227" target="_blank">rs717227</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CHRM3-AS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRM3-AS2" target="_blank">CHRM3-AS2</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-147+41011C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=CHRM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRM3-AS2" target="_blank">CHRM3-AS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255380;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000255380;SAVANT_GENE=CHRM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRM3" target="_blank">CHRM3</a>;SAVANT_INFO=+/286.4kb/5/8.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-188153C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHRM3+c.-188153C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:239882599">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,155:155:99:5126,465,0:127	1|0:103,93:196:99:2623,0,3150:127	1|1:0,157:157:99:5354,471,0:127
1	240072668	.	T	C	6960.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Eagle-Barrett_syndrome|_100100_(3);dbSNP139.ID=rs72760745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72760745" target="_blank">rs72760745</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=144;snpeff.Amino_Acid_Change=c.*144T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=CHRM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRM3" target="_blank">CHRM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000255380;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000255380;SAVANT_GENE=CHRM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRM3" target="_blank">CHRM3</a>;SAVANT_INFO=+/286.4kb/5/8.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*144T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHRM3+c.*144T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240072668">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,49:92:99:1477,0,1200:127	1|0:47,62:109:99:1855,0,1389:127	0|0:117,0:117:99:0,350,4088:127
1	240255203	.	G	T	477.2	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=15;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12727981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12727981" target="_blank">rs12727981</a>;ExAC.Info.AC=5248;ExAC.Info.AN=24572;ExAC.Info.AF=0.214;ExAC.Info.AC_Het=53;ExAC.Info.AC_Hom=35;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=207;snpeff.Amino_Acid_Change=c.-207G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-207G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.-207G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240255203">View</a>	GT:AD:DP:GQ:PL:TP	1|0:1,3:4:26:107,0,26:18	0|0:6,0:6:18:0,18,217:18	1|0:2,3:5:68:99,0,68:18
1	240255568	.	GGGC	G	3834.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=96;MQ=70.04;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs140531536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140531536" target="_blank">rs140531536</a>;cosmic68.Histology_subtype=acinar_carcinoma;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ggc/;snpeff.Amino_Acid_Change=p.Gly54del/c.160_162delGGC;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.174_176delCGG_p.Gly59del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.174_176delCGG+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240255568">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,10:25:99:375,0,638:77	0|0:45,0:45:99:0,135,2134:77	1|1:0,26:26:78:1143,78,0:77
1	240256822	.	C	A	3466.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10926124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10926124" target="_blank">rs10926124</a>;ExAC.Info.AC=56100;ExAC.Info.AN=124848;ExAC.Info.AF=0.449;ExAC.Info.AC_Het=27169;ExAC.Info.AC_Hom=12646;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcA;snpeff.Amino_Acid_Change=p.Ala471Ala/c.1413C>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1413C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.1413C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240256822">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,17:43:99:510,0,782:127	0|0:61,0:61:99:0,183,2260:127	1|0:19,21:40:99:709,0,597:127
1	240256953	.	T	G	163.36	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=218;ExAC.Info.AN=104952;ExAC.Info.AF=2.077e-03;ExAC.Info.AC_Het=170;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gGg;snpeff.Amino_Acid_Change=p.Val515Gly/c.1544T>G;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1544T>G_p.Val515Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.1544T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240256953">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,5:24:42:42,0,645:21	0|0:32,5:37:22:0,22,1002:21	1|0:19,14:33:79:79,0,460:21
1	240351628	.	T	C	10872.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4659948;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4659948" target="_blank">rs4659948</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1986+66T>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1986+66T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.1986+66T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240351628">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,47:90:99:1429,0,1153:127	0/1:51,59:110:99:1778,0,1367:127	0/1:60,50:110:99:1491,0,1765:127
1	240370629	.	C	G	10028.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=577;MQ=69.98;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10926166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10926166" target="_blank">rs10926166</a>;ExAC.Info.AC=44211;ExAC.Info.AN=126696;ExAC.Info.AF=0.349;ExAC.Info.AC_Het=27460;ExAC.Info.AC_Hom=8368;snpeff.Effect=sequence_feature[domain:FH1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2517C>G;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2517C>G;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acG;snpeff.Amino_Acid_Change=p.Thr839Thr/c.2517C>G;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2517C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.2517C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240370629">View</a>	GT:AD:DP:GQ:PL:TP	1|0:104,82:186:99:2117,0,3103:127	0|0:227,0:227:99:0,682,8255:127	1|0:88,76:164:99:2003,0,2599:127
1	240370947	.	GC	G	4685.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=254;MQ=68.12;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=sequence_feature[domain:FH1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2836delC;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2836delC;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=ccc/;snpeff.Amino_Acid_Change=p.Pro946fs/c.2836delC;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;LOF=(FMN2|ENSG00000155816|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2840delC;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.2840delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240370947">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,250,14589:127	0|0:81,0:81:99:0,243,14946:127	0|1:32,58:90:99:2366,0,6073:127
1	240370953	.	TCTACCCGGAGCGGCAATACCCCCTCCGCCCCC	T	4771.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=314;MQ=67.72;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=69;ExAC.Info.AN=125516;ExAC.Info.AF=5.497e-04;ExAC.Info.AC_Het=69;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:FH1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2842_2873delCTACCCGGAGCGGCAATACCCCCTCCGCCCCC;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2842_2873delCTACCCGGAGCGGCAATACCCCCTCCGCCCCC;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=ctacccggagcggcaataccccctccgccccct/;snpeff.Amino_Acid_Change=p.Leu948fs/c.2842_2873delCTACCCGGAGCGGCAATACCCCCTCCGCCCCC;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;LOF=(FMN2|ENSG00000155816|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2842_2873del32;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.2842_2873del32+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240370953">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,298,15807:127	0|0:110,0:110:99:0,337,17021:127	0|1:40,64:104:99:2409,0,6742:127
1	240371075	.	C	T	1746.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=122;MQ=55.58;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs71646825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71646825" target="_blank">rs71646825</a>;ExAC.Info.AC=9929;ExAC.Info.AN=119788;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=9235;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[domain:FH1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2963C>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2963C>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro988Leu/c.2963C>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2963C>T_p.Pro988Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.2963C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240371075">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1496:108	0|1:23,8:31:99:268,0,812:108	0|1:35,20:55:99:625,0,1156:108
1	240371085	.	A	T	1128.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=101;MQ=53.36;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs71646826;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71646826" target="_blank">rs71646826</a>;snpeff.Effect=sequence_feature[domain:FH1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2973A>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccT;snpeff.Amino_Acid_Change=p.Pro991Pro/c.2973A>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2973A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.2973A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240371085">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,108,1556:107	0|1:19,5:24:99:151,0,787:107	0|1:33,11:44:99:433,0,1248:107
1	240371097	.	G	A	752.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=91;MQ=51.22;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs71646827;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71646827" target="_blank">rs71646827</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=3572;ExAC.Info.AN=113508;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3327;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:FH1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2985G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2985G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala995Ala/c.2985G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2985G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.2985G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240371097">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:96:0,96,1471:95	0|1:15,4:19:99:120,0,743:95	0|1:32,9:41:99:276,0,1299:95
1	240371100	.	C	A	674.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=89;MQ=49.87;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs71646887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71646887" target="_blank">rs71646887</a>;ExAC.Info.AC=2693;ExAC.Info.AN=112358;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=2497;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:FH1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2988C>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2988C>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly996Gly/c.2988C>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2988C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.2988C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240371100">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:99:0,99,1519:98	0|1:15,4:19:99:123,0,708:98	0|1:33,6:39:99:234,0,1318:98
1	240371106	.	C	T	2844.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=88;MQ=49.05;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11586155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11586155" target="_blank">rs11586155</a>;ExAC.Info.AC=22036;ExAC.Info.AN=102766;ExAC.Info.AF=0.214;ExAC.Info.AC_Het=19221;ExAC.Info.AC_Hom=141;snpeff.Effect=sequence_feature[domain:FH1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2994C>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2994C>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro998Pro/c.2994C>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2994C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.2994C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240371106">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,20:34:99:531,0,341:105	0/1:14,3:17:99:106,0,375:105	0/1:18,19:37:99:596,0,471:105
1	240371112	.	G	T	297.15	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=66;MQ=47.41;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs71646889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71646889" target="_blank">rs71646889</a>;cosmic68.Histology_subtype=NS;snpeff.Effect=sequence_feature[domain:FH1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccT;snpeff.Amino_Acid_Change=p.Pro1000Pro/c.3000G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.3000G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.3000G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240371112">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,1:26:72:0,72,795:36	0|0:12,0:12:36:0,36,342:36	0|1:18,10:28:99:166,0,524:36
1	240371554	.	A	G	6685.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=77;MQ=61.46;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12732924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12732924" target="_blank">rs12732924</a>;ExAC.Info.AC=98441;ExAC.Info.AN=110912;ExAC.Info.AF=0.888;ExAC.Info.AC_Het=6806;ExAC.Info.AC_Hom=33621;snpeff.Effect=sequence_feature[domain:FH1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3442A>G;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3442A>G;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg1148Gly/c.3442A>G;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.3442A>G_p.Arg1148Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.3442A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240371554">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:92:1072,92,0:59	1|1:0,26:26:78:997,78,0:59	1|1:0,20:20:60:773,60,0:59
1	240408789	.	G	A	1042.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1456659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1456659" target="_blank">rs1456659</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4066-12456G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4066G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.4066-12456G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.4066-12456G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240408789">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1885:127	0|1:22,18:40:99:540,0,628:127	0|0:46,0:46:99:0,138,1498:127
1	240448434	.	G	T	1414.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6673167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6673167" target="_blank">rs6673167</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4154-9688G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4154G>T;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.4154-9688G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.4154-9688G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240448434">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1686:127	0|1:29,27:56:99:726,0,825:127	0|0:57,0:57:99:0,171,2109:127
1	240492543	.	G	A	17933.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=502;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6686353;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6686353" target="_blank">rs6686353</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4307+76G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4308G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.4307+76G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.4307+76G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240492543">View</a>	GT:AD:DP:GQ:PL:TP	0/1:72,79:151:99:2391,0,2229:127	0/1:94,87:181:99:2813,0,2734:127	0/1:66,104:170:99:3423,0,1805:127
1	240492734	.	G	A	20998.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1048;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795677;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795677" target="_blank">rs3795677</a>;ExAC.Info.AC=38208;ExAC.Info.AN=126698;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=26424;ExAC.Info.AC_Hom=5871;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg1468His/c.4403G>A;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.4403G>A_p.Arg1468His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.4403G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240492734">View</a>	GT:AD:DP:GQ:PL:TP	0|1:180,163:343:99:4330,0,5041:127	1|0:188,182:370:99:5288,0,5331:127	0|0:335,0:335:99:0,1007,11988:127
1	240497265	.	A	C	18923.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=704;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10157874;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10157874" target="_blank">rs10157874</a>;ExAC.Info.AC=71398;ExAC.Info.AN=126536;ExAC.Info.AF=0.564;ExAC.Info.AC_Het=28464;ExAC.Info.AC_Hom=20621;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4644+19A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FH2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4645A>C;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.4644+19A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.4644+19A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240497265">View</a>	GT:AD:DP:GQ:PL:TP	0/1:106,92:198:99:2604,0,2791:127	0/1:141,123:264:99:3714,0,3853:127	0/1:133,109:242:99:2995,0,3692:127
1	240637571	.	A	G	12122.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=603;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs882869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=882869" target="_blank">rs882869</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.26+5908T>C;snpeff.Amino_Acid_length=22;snpeff.Gene_Name=AL646016.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL6460161" target="_blank">AL6460161</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000596886;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=117;snpeff.Amino_Acid_Change=c.*117A>G;snpeff.Amino_Acid_length=1722;snpeff.Gene_Name=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL6460161" target="_blank">AL6460161</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319653;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319653;SAVANT_GENE=FMN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FMN2" target="_blank">FMN2</a>;SAVANT_INFO=+/383.3kb/18/6.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*117A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FMN2+c.*117A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240637571">View</a>	GT:AD:DP:GQ:PL:TP	0|1:84,87:171:99:2503,0,2332:127	1|0:108,102:210:99:3028,0,2978:127	0|0:222,0:222:99:0,667,7650:127
1	240643394	.	A	AGGAGGTGTTATATCAAAATCCTTCTCCAAGGTGAAACCATACCCTTG	421.51	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.26+85_26+84insCAAGGGTATGGTTTCACCTTGGAGAAGGATTTTGATATAACACCTCC;snpeff.Amino_Acid_length=22;snpeff.Gene_Name=AL646016.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL6460161" target="_blank">AL6460161</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000596886;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL6460161" target="_blank">AL6460161</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL6460161+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240643394">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,1:73:28:28,0,2659:28	0|0:93,0:93:99:0,299,3965:28	1|0:76,1:77:99:221,0,2676:28
1	240656797	.	G	A	6023.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11806449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11806449" target="_blank">rs11806449</a>;ExAC.Info.AC=24966;ExAC.Info.AN=125332;ExAC.Info.AF=0.199;ExAC.Info.AC_Het=15099;ExAC.Info.AC_Hom=2114;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1-21C>T;snpeff.Amino_Acid_length=168;snpeff.Gene_Name=GREM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GREM2" target="_blank">GREM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318160;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318160;SAVANT_GENE=GREM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GREM2" target="_blank">GREM2</a>;SAVANT_INFO=-/122.6kb/2/4.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-22C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GREM2+c.-22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240656797">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,29:62:99:721,0,1037:127	0/1:48,26:74:99:710,0,1429:127	0/1:39,36:75:99:974,0,1079:127
1	240975213	.	T	C	43594.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=861;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2275742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275742" target="_blank">rs2275742</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=64299;ExAC.Info.AN=126696;ExAC.Info.AF=0.508;ExAC.Info.AC_Het=29890;ExAC.Info.AC_Hom=17187;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1082+5A>G;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083A>G;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366565;SAVANT_GENE=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;SAVANT_INFO=-/581.7kb/18/2.5kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1082+5A>G;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS7+c.1082+5A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240975213">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,299:299:99:11177,901,0:127	1|0:163,173:336:99:5586,0,4585:127	1|0:115,111:226:99:3454,0,3348:127
1	240977964	.	G	T	17313.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12744536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12744536" target="_blank">rs12744536</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.845+52C>A;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:G_protein_gamma];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.846G>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:G_protein_gamma];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.846G>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:G_protein_gamma];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.846G>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366565;SAVANT_GENE=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;SAVANT_INFO=-/581.7kb/18/2.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.845+52C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS7+c.845+52C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:240977964">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,137:138:99:4678,375,0:127	1|0:61,82:143:99:2251,0,1785:127	1|0:73,58:131:99:1677,0,2284:127
1	241146322	.	A	G	11551.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7520707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7520707" target="_blank">rs7520707</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.226+57T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DEP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227A>G;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DEP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227A>G;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DEP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227A>G;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DEP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227A>G;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407727;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366565;SAVANT_GENE=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;SAVANT_INFO=-/581.7kb/18/2.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.226+57T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS7+c.226+57T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241146322">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1800,159,0:127	1|0:46,35:81:99:964,0,1380:127	1|1:0,60:60:99:2088,180,0:127
1	241519098	.	T	A	29110.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4659599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4659599" target="_blank">rs4659599</a>;ExAC.Info.AC=123900;ExAC.Info.AN=126694;ExAC.Info.AF=0.978;ExAC.Info.AC_Het=2551;ExAC.Info.AC_Hom=60411;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366565;SAVANT_GENE=RGS7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS7" target="_blank">RGS7</a>;SAVANT_INFO=-/581.7kb/18/2.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-22A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RGS7+c.-22A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241519098">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4048,366,0:127	1|1:0,140:140:99:4670,421,0:127	1|1:0,141:141:99:4889,423,0:127
1	241667523	.	C	T	4899.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Fumarase_deficiency|_606812_(3)|_Leiomyomatosis_and_renal_cell_cancer|_150800_(3);dbSNP139.ID=rs61737760;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61737760" target="_blank">rs61737760</a>;ExAC.Info.AC=4354;ExAC.Info.AN=126692;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=4142;ExAC.Info.AC_Hom=105;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000125102|RCV000131065;Clinvar.PhenotypeIDs=MedGen:C0027672|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro309Pro/c.927G>A;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=FH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FH" target="_blank">FH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366560;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366560;SAVANT_GENE=FH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FH" target="_blank">FH</a>;SAVANT_INFO=-/22.2kb/10/1.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.927G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FH+c.927G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241667523">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000125102%20OR%20RCV000131065" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:140,0:140:99:0,421,4786:127	0|0:176,0:176:99:0,528,6008:127	0|1:80,82:162:99:2469,0,2369:127
1	241677035	.	T	A	5858.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Fumarase_deficiency|_606812_(3)|_Leiomyomatosis_and_renal_cell_cancer|_150800_(3);dbSNP139.ID=rs2275162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275162" target="_blank">rs2275162</a>;ExAC.Info.AC=4253;ExAC.Info.AN=126660;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=4042;ExAC.Info.AC_Hom=96;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.268-22A>T;snpeff.Amino_Acid_length=510;snpeff.Gene_Name=FH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FH" target="_blank">FH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366560;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366560;SAVANT_GENE=FH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FH" target="_blank">FH</a>;SAVANT_INFO=-/22.2kb/10/1.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.268-22A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FH+c.268-22A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241677035">View</a>	GT:AD:DP:GQ:PL:TP	0|0:163,0:163:99:0,490,5635:127	0|0:155,0:155:99:0,466,5653:127	0|1:69,104:173:99:2948,0,1863:127
1	241695792	.	T	C	1350.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3819976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3819976" target="_blank">rs3819976</a>;ExAC.Info.AC=7614;ExAC.Info.AN=126700;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=6812;ExAC.Info.AC_Hom=401;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly16Gly/c.48T>C;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=KMO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KMO" target="_blank">KMO</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366559;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366559;SAVANT_GENE=KMO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KMO" target="_blank">KMO</a>;SAVANT_INFO=+/63.5kb/15/5.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.48T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KMO+c.48T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241695792">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1125:95	0|0:64,2:66:99:0,149,2249:95	0|1:26,25:51:99:694,0,702:95
1	241712134	.	C	T	27839.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=629;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11556464;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11556464" target="_blank">rs11556464</a>;ExAC.Info.AC=45073;ExAC.Info.AN=126698;ExAC.Info.AF=0.356;ExAC.Info.AC_Het=28198;ExAC.Info.AC_Hom=8288;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly20Gly/c.60C>T;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=KMO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KMO" target="_blank">KMO</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366559;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366559;SAVANT_GENE=KMO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KMO" target="_blank">KMO</a>;SAVANT_INFO=+/63.5kb/15/5.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.60C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KMO+c.60C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241712134">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,188:188:99:5974,565,0:127	1|0:112,127:239:99:3478,0,3407:127	1|0:112,90:202:99:2433,0,3177:127
1	241712230	.	G	A	6316.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=516;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61825636;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61825636" target="_blank">rs61825636</a>;ExAC.Info.AC=4192;ExAC.Info.AN=126700;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=4073;ExAC.Info.AC_Hom=100;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.124+32G>A;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=KMO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KMO" target="_blank">KMO</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366559;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366559;SAVANT_GENE=KMO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KMO" target="_blank">KMO</a>;SAVANT_INFO=+/63.5kb/15/5.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.124+32G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KMO+c.124+32G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241712230">View</a>	GT:AD:DP:GQ:PL:TP	0|0:155,0:155:99:0,465,5460:127	0|1:98,108:206:99:3177,0,3075:127	0|0:155,0:155:99:0,466,5712:127
1	241728198	.	A	G	1024.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12139441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12139441" target="_blank">rs12139441</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.616-89A>G;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=KMO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KMO" target="_blank">KMO</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366559;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366559;SAVANT_GENE=KMO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KMO" target="_blank">KMO</a>;SAVANT_INFO=+/63.5kb/15/5.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.616-89A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KMO+c.616-89A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241728198">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1677:127	0|0:56,0:56:99:0,168,2068:127	0|1:31,17:48:99:531,0,968:127
1	241755348	.	C	T	13648.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1053230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1053230" target="_blank">rs1053230</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Kynurenic_acid_levels_in_cerebrospinal_fluid|_association_with;hgmd_2014.2.OMIM_ID=603538;hgmd_2014.2.PubMed=21693093;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21693093" target="_blank">21693093</a>;ExAC.Info.AC=22465;ExAC.Info.AN=126702;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=17867;ExAC.Info.AC_Hom=2297;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg452Cys/c.1354C>T;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=KMO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366559;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366559;SAVANT_GENE=KMO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KMO" target="_blank">KMO</a>;SAVANT_INFO=+/63.5kb/15/5.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1354C>T_p.Arg452Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KMO+c.1354C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241755348">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,49:104:99:1432,0,1485:127	0/1:66,69:135:99:2124,0,1803:127	0/1:52,74:126:99:2268,0,1363:127
1	241761349	.	T	C	3330.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs45572340;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45572340" target="_blank">rs45572340</a>;ExAC.Info.AC=22171;ExAC.Info.AN=125966;ExAC.Info.AF=0.176;ExAC.Info.AC_Het=15612;ExAC.Info.AC_Hom=1961;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.694-50A>G;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366554;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366554;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694T>C;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366554;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366554;SAVANT_GENE=OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;SAVANT_INFO=-/47.2kb/4/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.694-50A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPN3+c.694-50A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241761349">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,18:34:99:518,0,498:127	0/1:15,13:28:99:431,0,451:127	0/1:14,28:42:99:835,0,382:127
1	241798631	.	C	T	3754.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3737604;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737604" target="_blank">rs3737604</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=41130;ExAC.Info.AN=126698;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=27211;ExAC.Info.AC_Hom=6927;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.373+4553G>A;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366554;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366554;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366554;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366554;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374C>T;snpeff.Amino_Acid_length=402;snpeff.Gene_Name=OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366554;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser146Ser/c.438G>A;snpeff.Amino_Acid_length=656;snpeff.Gene_Name=CHML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366553;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366553:ENST00000366554;SAVANT_GENE=CHML:OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHML:OPN3" target="_blank">CHML:OPN3</a>;SAVANT_INFO=-/7.1kb/1/7.1kb:-/47.2kb/4/2.6kb;SAVANT_LOC=Ex1:In1/2;SAVANT_HGVS=c.438G>A_p.=:c.373+4553G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHML:OPN3+c.438G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241798631">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,331,4038:127	0|0:135,0:135:99:0,406,4966:127	0|1:61,62:123:99:1896,0,1795:127
1	241838057	.	C	T	15526.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs67170285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67170285" target="_blank">rs67170285</a>;ExAC.Info.AC=15238;ExAC.Info.AN=25630;ExAC.Info.AF=0.595;ExAC.Info.AC_Het=5529;ExAC.Info.AC_Hom=4579;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OPN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.483+8C>T;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.484C>T;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN3" target="_blank">OPN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366552;SAVANT_GENE=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;SAVANT_INFO=+/149.9kb/27/4.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.483+8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR64+c.483+8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241838057">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2404,169,0:127	1|1:0,52:52:99:2280,157,0:127	1|1:0,48:48:99:2095,147,0:127
1	241907691	.	A	G	3352.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7418599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7418599" target="_blank">rs7418599</a>;ExAC.Info.AC=47289;ExAC.Info.AN=126688;ExAC.Info.AF=0.373;ExAC.Info.AC_Het=28347;ExAC.Info.AC_Hom=9450;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1441-4A>G;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1441A>G;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1441A>G;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1441A>G;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366552;SAVANT_GENE=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;SAVANT_INFO=+/149.9kb/27/4.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1441-4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR64+c.1441-4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241907691">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,352,4123:127	0|0:118,0:118:99:0,354,4272:127	0|1:61,58:119:99:1695,0,1879:127
1	241907817	.	T	C	8592.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10802990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10802990" target="_blank">rs10802990</a>;ExAC.Info.AC=67612;ExAC.Info.AN=126698;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=30286;ExAC.Info.AC_Hom=18639;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1563T>C;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1563T>C;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn521Asn/c.1563T>C;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1563T>C;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366552;SAVANT_GENE=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;SAVANT_INFO=+/149.9kb/27/4.4kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1563T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR64+c.1563T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241907817">View</a>	GT:AD:DP:GQ:PL:TP	0|0:160,0:160:99:0,481,5590:127	0|1:108,82:190:99:2259,0,3207:127	0|1:99,76:175:99:2057,0,2898:127
1	241920562	.	C	T	4222.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6663895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6663895" target="_blank">rs6663895</a>;ExAC.Info.AC=15248;ExAC.Info.AN=126658;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=12847;ExAC.Info.AC_Hom=1128;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1741-23C>T;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1741C>T;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1741C>T;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366552;SAVANT_GENE=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;SAVANT_INFO=+/149.9kb/27/4.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1741-23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR64+c.1741-23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241920562">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,3095:127	0|1:68,71:139:99:2130,0,2095:127	0|0:113,0:113:99:0,339,4231:127
1	241929542	.	G	A	2836.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12095445;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12095445" target="_blank">rs12095445</a>;ExAC.Info.AC=15611;ExAC.Info.AN=126696;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=13101;ExAC.Info.AC_Hom=1247;snpeff.Effect=sequence_feature[repeat:WD_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1940G>A;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1940G>A;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg647Gln/c.1940G>A;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366552;SAVANT_GENE=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;SAVANT_INFO=+/149.9kb/27/4.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1940G>A_p.Arg647Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR64+c.1940G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241929542">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2439:127	0|1:41,47:88:99:1437,0,1150:127	0|0:97,0:97:99:0,291,3209:127
1	241933876	.	A	G	3661.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11809239;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11809239" target="_blank">rs11809239</a>;ExAC.Info.AC=15396;ExAC.Info.AN=27250;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=5551;ExAC.Info.AC_Hom=4354;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2154-47A>G;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366552;SAVANT_GENE=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;SAVANT_INFO=+/149.9kb/27/4.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2154-47A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR64+c.2154-47A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241933876">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,12:22:99:404,0,257:83	0|0:44,0:44:99:0,132,1467:83	1|1:0,28:28:84:1134,84,0:83
1	241946766	.	A	C	8227.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs953597;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=953597" target="_blank">rs953597</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2675+83A>C;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2676A>C;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2676A>C;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366552;SAVANT_GENE=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;SAVANT_INFO=+/149.9kb/27/4.4kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2675+83A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR64+c.2675+83A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241946766">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,35:69:99:994,0,1024:127	0/1:45,42:87:99:1255,0,1431:127	0/1:48,45:93:99:1368,0,1557:127
1	241954005	.	TAA	T	5170.99	PASS	InheritancePattern=notInChild;AC=1;AF=0.333;AN=3;DP=191;MQ=69.94;MQ0=0;culprit=DP;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2967+8_2967+9delAA;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2968_2969delAA;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366552;SAVANT_GENE=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;SAVANT_INFO=+/149.9kb/27/4.4kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.2967+24_2967+25delAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR64+c.2967+24_2967+25delAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241954005">View</a>	GT:AD:DP:GQ:PL	./0:16,15:47:35:380,42,518	./0:37,8:66:99:379,297,1394	./1:7,22:78:99:1461,855,1077
1	241954005	.	TAA	TA	5170.99	PASS	InheritancePattern=Normal;AC=3;AF=0.600;AN=5;DP=191;MQ=69.94;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2967+9delA;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366552;SAVANT_GENE=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;SAVANT_INFO=+/149.9kb/27/4.4kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.2967+25delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR64+c.2967+25delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241954005">View</a>	GT:AD:DP:GQ:PL	0/1:16,16:47:35:380,0,181	0/1:37,21:66:99:379,0,470	./1:7,49:78:99:1461,334,248
1	241964559	.	C	T	18620.3	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=593;MQ=69.98;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=0/0;dbSNP139.ID=rs4658661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4658661" target="_blank">rs4658661</a>;ExAC.Info.AC=59829;ExAC.Info.AN=126614;ExAC.Info.AF=0.473;ExAC.Info.AC_Het=35939;ExAC.Info.AC_Hom=14711;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=42;snpeff.Amino_Acid_Change=c.*42C>T;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366552;SAVANT_GENE=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;SAVANT_INFO=+/149.9kb/27/4.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*42C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR64+c.*42C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241964559">View</a>	GT:AD:DP:GQ:PL	0/1:91,96:187:99:2589,0,2518	0/0:224,0:224:99:0,672,7361	./1:0,96:182:99:5635,2672,2384
1	241964559	.	C	G	18620.3	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=593;MQ=69.98;MQ0=0;culprit=DP;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=0/0;dbSNP139.ID=rs4658661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4658661" target="_blank">rs4658661</a>;ExAC.Info.AC=15350;ExAC.Info.AN=126614;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=35939;ExAC.Info.AC_Hom=14711;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=42;snpeff.Amino_Acid_Change=c.*42C>G;snpeff.Amino_Acid_length=1081;snpeff.Gene_Name=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366552;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366552;SAVANT_GENE=WDR64;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR64" target="_blank">WDR64</a>;SAVANT_INFO=+/149.9kb/27/4.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*42C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR64+c.*42C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:241964559">View</a>	GT:AD:DP:GQ:PL	./0:91,0:187:99:2589,2862,5659	0/0:224,0:224:99:0,672,7354	./1:0,86:182:99:5635,2958,2698
1	242015820	.	A	G	8890.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2526704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2526704" target="_blank">rs2526704</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.281+107A>G;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366548;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366548;SAVANT_GENE=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;SAVANT_INFO=+/41.8kb/16/3.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.281+107A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXO1+c.281+107A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242015820">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1227,96,0:95	1|1:0,52:52:99:1954,156,0:95	1|0:21,31:52:99:982,0,598:95
1	242023898	.	A	G	22303.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4149909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4149909" target="_blank">rs4149909</a>;ExAC.Info.AC=3095;ExAC.Info.AN=126704;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=3014;ExAC.Info.AC_Hom=41;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn279Ser/c.836A>G;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366548;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366548;SAVANT_GENE=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;SAVANT_INFO=+/41.8kb/16/3.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.836A>G_p.Asn279Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXO1+c.836A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242023898">View</a>	GT:AD:DP:GQ:PL:TP	0|1:189,175:364:99:5254,0,5405:127	1|0:208,187:395:99:5632,0,6022:127	0|0:422,0:422:99:0,1268,14463:127
1	242030151	.	A	G	40364.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=706;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs735943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=735943" target="_blank">rs735943</a>;ExAC.Info.AC=75242;ExAC.Info.AN=126704;ExAC.Info.AF=0.594;ExAC.Info.AC_Het=29468;ExAC.Info.AC_Hom=22882;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His354Arg/c.1061A>G;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366548;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366548;SAVANT_GENE=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;SAVANT_INFO=+/41.8kb/16/3.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1061A>G_p.His354Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXO1+c.1061A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242030151">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,230:230:99:7298,690,0:127	1|1:0,243:243:99:7916,729,0:127	1|0:127,106:233:99:2742,0,3613:127
1	242035438	.	G	A	29849.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1066;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4149965;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4149965" target="_blank">rs4149965</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=22295;ExAC.Info.AN=126702;ExAC.Info.AF=0.176;ExAC.Info.AC_Het=17333;ExAC.Info.AC_Hom=2466;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val458Met/c.1372G>A;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366548;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366548;SAVANT_GENE=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;SAVANT_INFO=+/41.8kb/16/3.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1372G>A_p.Val458Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXO1+c.1372G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242035438">View</a>	GT:AD:DP:GQ:PL:TP	0/1:185,146:331:99:3901,0,5875:127	0/1:196,179:375:99:4973,0,5805:127	0/1:169,191:360:99:5289,0,4980:127
1	242042545	.	A	G	28036.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=401;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1776148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1776148" target="_blank">rs1776148</a>;ExAC.Info.AC=82872;ExAC.Info.AN=126614;ExAC.Info.AF=0.655;ExAC.Info.AC_Het=27686;ExAC.Info.AC_Hom=27191;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu670Gly/c.2009A>G;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366548;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366548;SAVANT_GENE=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;SAVANT_INFO=+/41.8kb/16/3.5kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2009A>G_p.Glu670Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXO1+c.2009A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242042545">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4901,412,0:127	1|1:0,140:140:99:5324,421,0:127	1|0:61,63:124:99:2024,0,1933:127
1	242045275	.	C	T	31020.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1635498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1635498" target="_blank">rs1635498</a>;ExAC.Info.AC=121176;ExAC.Info.AN=126680;ExAC.Info.AF=0.957;ExAC.Info.AC_Het=5047;ExAC.Info.AC_Hom=58001;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg723Cys/c.2167C>T;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366548;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366548;SAVANT_GENE=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;SAVANT_INFO=+/41.8kb/16/3.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2167C>T_p.Arg723Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXO1+c.2167C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242045275">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,128:128:99:3809,384,0:127	1|1:0,166:166:99:5623,498,0:127	1|1:0,146:146:99:4821,439,0:127
1	242048674	.	C	T	4307.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9350" target="_blank">rs9350</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Colorectal_cancer|_reduced_risk|_association_with;hgmd_2014.2.OMIM_ID=606063;hgmd_2014.2.PubMed=20854105;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20854105" target="_blank">20854105</a>;ExAC.Info.AC=25718;ExAC.Info.AN=126704;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=19298;ExAC.Info.AC_Hom=3142;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro757Leu/c.2270C>T;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366548;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366548;SAVANT_GENE=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;SAVANT_INFO=+/41.8kb/16/3.5kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2270C>T_p.Pro757Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXO1+c.2270C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242048674">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,28:68:99:772,0,1285:127	0|0:87,0:87:99:0,261,3137:127	1|0:33,35:68:99:979,0,1264:127
1	242048680	.	G	A	1641.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4150001;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4150001" target="_blank">rs4150001</a>;hgmd_2014.2.CLASS=DM;hgmd_2014.2.PHEN=Colorectal_cancer|_non-polyposis;hgmd_2014.2.OMIM_ID=606063;hgmd_2014.2.PubMed=11375940;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11375940" target="_blank">11375940</a>;ExAC.Info.AC=1114;ExAC.Info.AN=126704;ExAC.Info.AF=8.792e-03;ExAC.Info.AC_Het=1088;ExAC.Info.AC_Hom=12;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gAa;snpeff.Amino_Acid_Change=p.Gly759Glu/c.2276G>A;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366548;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366548;SAVANT_GENE=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;SAVANT_INFO=+/41.8kb/16/3.5kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2276G>A_p.Gly759Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXO1+c.2276G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242048680">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,208,2759:127	0|0:93,1:94:99:0,237,3287:127	0|1:37,30:67:99:840,0,1431:127
1	242053030	.	AT	A	5005.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4150021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4150021" target="_blank">rs4150021</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=129;snpeff.Amino_Acid_Change=c.*129delT;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366548;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366548;SAVANT_GENE=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;SAVANT_INFO=+/41.8kb/16/3.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*132delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXO1+c.*132delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242053030">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,43:80:99:1205,0,1302:127	0|0:103,0:103:99:0,310,4416:127	1|0:46,52:98:99:1457,0,1681:127
1	242053042	.	A	G	11499.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs851797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=851797" target="_blank">rs851797</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=140;snpeff.Amino_Acid_Change=c.*140A>G;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366548;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366548;SAVANT_GENE=EXO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXO1" target="_blank">EXO1</a>;SAVANT_INFO=+/41.8kb/16/3.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*140A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXO1+c.*140A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242053042">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,28:66:99:876,0,1551:127	1|1:0,90:90:99:3369,270,0:127	0|1:47,39:86:99:1158,0,1875:127
1	242264091	.	GA	G	53.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs372385373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=372385373" target="_blank">rs372385373</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1240-8delT;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=PLD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLD5" target="_blank">PLD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1240delT;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=PLD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLD5" target="_blank">PLD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000536534;SAVANT_GENE=PLD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLD5" target="_blank">PLD5</a>;SAVANT_INFO=-/435.2kb/10/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1240-8delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLD5+c.1240-8delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242264091">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,1618:49	0|1:41,7:48:50:50,0,996:49	0|0:60,5:65:67:0,67,1711:49
1	242264102	.	A	G	1622.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12124966;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12124966" target="_blank">rs12124966</a>;ExAC.Info.AC=27988;ExAC.Info.AN=126510;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=21546;ExAC.Info.AC_Hom=2485;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1240-18T>C;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=PLD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLD5" target="_blank">PLD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536534;SAVANT_GENE=PLD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLD5" target="_blank">PLD5</a>;SAVANT_INFO=-/435.2kb/10/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1240-18T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLD5+c.1240-18T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242264102">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2176:127	0|0:52,0:52:99:0,157,1844:127	0|1:39,35:74:99:830,0,1043:127
1	242383201	.	T	G	5410.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1973498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1973498" target="_blank">rs1973498</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.735+89A>C;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=PLD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLD5" target="_blank">PLD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000536534;SAVANT_GENE=PLD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLD5" target="_blank">PLD5</a>;SAVANT_INFO=-/435.2kb/10/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.735+89A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLD5+c.735+89A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242383201">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,15:43:99:369,0,793:121	0|0:55,2:57:99:0,122,1869:121	1|1:0,52:52:99:1859,156,0:121
1	242511556	.	AACAAAG	A	12523.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=160;MQ=69.62;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs112478548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112478548" target="_blank">rs112478548</a>;ExAC.Info.AC=95813;ExAC.Info.AN=126098;ExAC.Info.AF=0.760;ExAC.Info.AC_Het=20556;ExAC.Info.AC_Hom=33520;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190-18_190-13delCTTTGT;snpeff.Amino_Acid_length=536;snpeff.Gene_Name=PLD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLD5" target="_blank">PLD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000536534;SAVANT_GENE=PLD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLD5" target="_blank">PLD5</a>;SAVANT_INFO=-/435.2kb/10/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.190-18_190-13del6;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLD5+c.190-18_190-13del6+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:242511556">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:2204,152,0:127	1|1:0,57:57:99:2552,173,0:127	1|0:35,18:53:99:638,0,1667:127
1	243327785	.	G	A	3090.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=160;MQ=44.09;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201167561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201167561" target="_blank">rs201167561</a>;ExAC.Info.AC=279;ExAC.Info.AN=124494;ExAC.Info.AF=2.241e-03;ExAC.Info.AC_Het=235;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_centrosomes];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_centrosomes];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_centrosomes];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_centrosomes];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_centrosomes];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_centrosomes];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_centrosomes];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_centrosomes];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3477G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly1159Gly/c.3477C>T;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366542;SAVANT_GENE=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;SAVANT_INFO=-/130.6kb/20/6.8kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.3477C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP170+c.3477C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243327785">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,20:53:99:566,0,1035:122	1|0:39,27:66:99:749,0,1246:122	0|0:41,0:41:99:0,122,1465:122
1	243328110	.	G	A	158.05	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=411;MQ=46.17;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199844027;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199844027" target="_blank">rs199844027</a>;ExAC.Info.AC=3608;ExAC.Info.AN=124744;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=2508;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.29+142G>A;snpeff.Gene_Name=RP11-261C10.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437499;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3152G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3152G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3152G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3152G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3152G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3152G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3152G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3152G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro1051Leu/c.3152C>T;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366542;SAVANT_GENE=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;SAVANT_INFO=-/130.6kb/20/6.8kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.3152C>T_p.Pro1051Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP170+c.3152C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243328110">View</a>	GT:AD:DP:GQ:PL:TP	1|0:118,15:133:95:95,0,3994:94	0|0:160,0:160:99:0,481,5933:94	1|0:107,11:118:27:27,0,3703:94
1	243328208	.	G	A	204.04	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=890;MQ=59.63;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=336;ExAC.Info.AN=124916;ExAC.Info.AF=2.690e-03;ExAC.Info.AC_Het=181;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.29+240G>A;snpeff.Gene_Name=RP11-261C10.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437499;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3054G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3054G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3054G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3054G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3054G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3054G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3054G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Targeting_to_microtubules];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3054G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro1018Pro/c.3054C>T;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366542;SAVANT_GENE=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;SAVANT_INFO=-/130.6kb/20/6.8kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.3054C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP170+c.3054C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243328208">View</a>	GT:AD:DP:GQ:PL:TP	0|0:266,18:284:99:0,217,8329:30	0|1:295,30:325:30:30,0,9235:30	0|1:254,27:281:92:92,0,7916:30
1	243328887	.	G	T	115.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=695;MQ=50.99;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=A;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199575184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199575184" target="_blank">rs199575184</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=20859;ExAC.Info.AN=125128;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=19277;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.29+919G>T;snpeff.Gene_Name=RP11-261C10.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437499;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=tCa/tAa;snpeff.Amino_Acid_Change=p.Ser792*/c.2375C>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;LOF=(CEP170|ENSG00000143702|1|1.00);NMD=(CEP170|ENSG00000143702|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000366542;SAVANT_GENE=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;SAVANT_INFO=-/130.6kb/20/6.8kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2375C>A_p.Ser792X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP170+c.2375C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243328887">View</a>	GT:AD:DP:GQ:PL:TP	0|0:201,19:220:46:0,46,6379:7	0|1:240,27:267:76:76,0,7442:7	0|0:189,19:208:7:0,7,5727:7
1	243329049	.	G	A	7041.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=862;MQ=62.58;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3766664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3766664" target="_blank">rs3766664</a>;ExAC.Info.AC=41227;ExAC.Info.AN=124944;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=41184;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.29+1081G>A;snpeff.Gene_Name=RP11-261C10.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437499;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aTt;snpeff.Amino_Acid_Change=p.Thr738Ile/c.2213C>T;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366542;SAVANT_GENE=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;SAVANT_INFO=-/130.6kb/20/6.8kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2213C>T_p.Thr738Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP170+c.2213C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243329049">View</a>	GT:AD:DP:GQ:PL:TP	0/1:228,59:287:99:1006,0,7639:127	0/1:251,76:327:99:1458,0,8363:127	0/1:199,49:248:99:836,0,6446:127
1	243329075	.	T	C	2660.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=775;MQ=61.55;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61833876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61833876" target="_blank">rs61833876</a>;ExAC.Info.AC=36274;ExAC.Info.AN=124876;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=35411;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.29+1107T>C;snpeff.Gene_Name=RP11-261C10.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437499;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys729Lys/c.2187A>G;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:N6-acetyllysine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.2187T>C;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-261C104" target="_blank">RP11-261C104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366542;SAVANT_GENE=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;SAVANT_INFO=-/130.6kb/20/6.8kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2187A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP170+c.2187A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243329075">View</a>	GT:AD:DP:GQ:PL:TP	0/1:225,33:258:99:351,0,7141:127	0/1:255,40:295:99:516,0,8200:127	0/1:191,31:222:99:375,0,6116:127
1	243354791	.	C	T	655.53	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=9;MQ=32.15;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs144272877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144272877" target="_blank">rs144272877</a>;ExAC.Info.AC=4818;ExAC.Info.AN=35350;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=56;ExAC.Info.AC_Hom=147;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly213Ser/c.637G>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366542;SAVANT_GENE=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;SAVANT_INFO=-/130.6kb/20/6.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.637G>A_p.Gly213Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP170+c.637G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243354791">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,1:1:3:35,3,0:7	1|1:0,4:4:12:139,12,0:7	1|1:0,4:4:12:114,12,0:7
1	243385144	.	A	T	6814.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72757676;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72757676" target="_blank">rs72757676</a>;ExAC.Info.AC=40;ExAC.Info.AN=124426;ExAC.Info.AF=3.215e-04;ExAC.Info.AC_Het=35;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.106-29T>A;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FHA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106A>T;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FHA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106A>T;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FHA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106A>T;snpeff.Amino_Acid_length=1584;snpeff.Gene_Name=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366542;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366542;SAVANT_GENE=CEP170;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP170" target="_blank">CEP170</a>;SAVANT_INFO=-/130.6kb/20/6.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.106-29T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP170+c.106-29T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243385144">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,56:107:99:1662,0,1404:127	1|0:69,59:128:99:1737,0,2056:127	0|0:96,0:96:99:0,289,3550:127
1	243419429	.	T	A	7056.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3);dbSNP139.ID=rs3904682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3904682" target="_blank">rs3904682</a>;ExAC.Info.AC=61660;ExAC.Info.AN=126702;ExAC.Info.AF=0.487;ExAC.Info.AC_Het=28849;ExAC.Info.AC_Hom=16342;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=47;snpeff.Amino_Acid_Change=c.-47T>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366541;SAVANT_GENE=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;SAVANT_INFO=+/244.0kb/18/2.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-47T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDCCAG8+c.-47T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243419429">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,25:60:99:707,0,1059:127	1|1:0,59:59:99:2129,177,0:127	0|0:56,0:56:99:0,167,1931:127
1	243493907	.	A	T	14922.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=486;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275155" target="_blank">rs2275155</a>;ExAC.Info.AC=37583;ExAC.Info.AN=126704;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=25498;ExAC.Info.AC_Hom=6031;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaA/gaT;snpeff.Amino_Acid_Change=p.Glu378Asp/c.1134A>T;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366541;SAVANT_GENE=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;SAVANT_INFO=+/244.0kb/18/2.6kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1134A>T_p.Glu378Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDCCAG8+c.1134A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243493907">View</a>	GT:AD:DP:GQ:PL:TP	1|0:89,71:160:99:1862,0,2521:127	0|0:196,0:196:99:0,589,7069:127	1|1:0,130:130:99:4542,390,0:127
1	243579112	.	G	A	11289.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3);dbSNP139.ID=rs10927011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10927011" target="_blank">rs10927011</a>;ExAC.Info.AC=61795;ExAC.Info.AN=126666;ExAC.Info.AF=0.488;ExAC.Info.AC_Het=29174;ExAC.Info.AC_Hom=16075;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_OFD1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_OFD1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_OFD1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_OFD1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_OFD1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" 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target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" 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target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_homodimerization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu575Glu/c.1725G>A;snpeff.Amino_Acid_length=713;snpeff.Gene_Name=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366541;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366541;SAVANT_GENE=SDCCAG8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDCCAG8" target="_blank">SDCCAG8</a>;SAVANT_INFO=+/244.0kb/18/2.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1725G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDCCAG8+c.1725G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243579112">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,74:132:99:2261,0,1657:127	1|0:78,91:169:99:2688,0,2343:127	0|0:140,0:140:99:0,420,5014:127
1	243736210	.	CT	C	301.45	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3)|Senior-Loken_syndrome_7|_613615_(3)|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome|_603387_(3);dbSNP139.ID=rs66631932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66631932" target="_blank">rs66631932</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.819+17delA;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=AKT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKT3" target="_blank">AKT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366539;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366539;SAVANT_GENE=AKT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKT3" target="_blank">AKT3</a>;SAVANT_INFO=-/348.4kb/14/5.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.819+17delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKT3+c.819+17delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:243736210">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,7:28:20:20,0,421:13	0/1:20,7:27:69:69,0,380:13	0/1:13,3:16:15:15,0,260:13
1	244601152	.	C	T	6899.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3127465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127465" target="_blank">rs3127465</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.184-82G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=ADSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADSS" target="_blank">ADSS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366535;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366535;SAVANT_GENE=ADSS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADSS" target="_blank">ADSS</a>;SAVANT_INFO=-/43.6kb/13/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.184-82G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADSS+c.184-82G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:244601152">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,26:55:99:676,0,870:127	1|1:0,52:52:99:1792,156,0:127	0|1:24,33:57:99:820,0,701:127
1	244715966	.	G	A	6748.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=752;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs35587664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35587664" target="_blank">rs35587664</a>;ExAC.Info.AC=9037;ExAC.Info.AN=126704;ExAC.Info.AF=0.071;ExAC.Info.AC_Het=7734;ExAC.Info.AC_Hom=651;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser293Ser/c.879G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366534;SAVANT_GENE=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;SAVANT_INFO=+/179.1kb/22/3.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.879G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf101+c.879G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:244715966">View</a>	GT:AD:DP:GQ:PL:TP	0|0:216,0:216:99:0,649,7655:127	0|0:282,0:282:99:0,848,10336:127	0|1:131,123:254:99:3393,0,3859:127
1	244723920	.	C	G	1748.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7522899;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7522899" target="_blank">rs7522899</a>;ExAC.Info.AC=20148;ExAC.Info.AN=126362;ExAC.Info.AF=0.159;ExAC.Info.AC_Het=14328;ExAC.Info.AC_Hom=2437;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1030-50C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030C>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366534;SAVANT_GENE=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;SAVANT_INFO=+/179.1kb/22/3.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1030-50C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf101+c.1030-50C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:244723920">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,19:47:99:613,0,844:127	0|0:67,0:67:99:0,202,2568:127	1|0:18,13:31:99:393,0,599:127
1	244724092	.	G	A	13718.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=771;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7544794;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7544794" target="_blank">rs7544794</a>;ExAC.Info.AC=20914;ExAC.Info.AN=126696;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=15632;ExAC.Info.AC_Hom=2631;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser384Ser/c.1152G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366534;SAVANT_GENE=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;SAVANT_INFO=+/179.1kb/22/3.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1152G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf101+c.1152G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:244724092">View</a>	GT:AD:DP:GQ:PL:TP	1|0:116,127:243:99:3544,0,3012:127	0|0:322,0:322:99:0,967,10621:127	1|0:111,95:206:99:2526,0,3020:127
1	244735858	.	A	G	7534.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10927267;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10927267" target="_blank">rs10927267</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=20949;ExAC.Info.AN=126702;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=15644;ExAC.Info.AC_Hom=2647;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr578Thr/c.1734A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366534;SAVANT_GENE=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;SAVANT_INFO=+/179.1kb/22/3.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1734A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf101+c.1734A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:244735858">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,45:111:99:1286,0,1926:127	0|0:149,0:149:99:0,448,5280:127	1|0:54,53:107:99:1654,0,1760:127
1	244747150	.	G	A	5582.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6429487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6429487" target="_blank">rs6429487</a>;ExAC.Info.AC=20194;ExAC.Info.AN=126688;ExAC.Info.AF=0.159;ExAC.Info.AC_Het=15408;ExAC.Info.AC_Hom=2331;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2010-16G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2010G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366534;SAVANT_GENE=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;SAVANT_INFO=+/179.1kb/22/3.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2010-16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf101+c.2010-16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:244747150">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,34:72:99:1011,0,1024:127	0|0:77,0:77:99:0,231,2555:127	1|0:35,35:70:99:946,0,1051:127
1	244747293	.	C	T	3833.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6429488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6429488" target="_blank">rs6429488</a>;ExAC.Info.AC=19691;ExAC.Info.AN=126566;ExAC.Info.AF=0.156;ExAC.Info.AC_Het=13983;ExAC.Info.AC_Hom=1931;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2085+52C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366534;SAVANT_GENE=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;SAVANT_INFO=+/179.1kb/22/3.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2085+52C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf101+c.2085+52C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:244747293">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,18:43:99:667,0,1492:127	0|0:66,0:66:99:0,199,4413:127	1|0:18,17:35:99:660,0,1059:127
1	244747294	.	G	A	3833.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6429489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6429489" target="_blank">rs6429489</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2085+53G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366534;SAVANT_GENE=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;SAVANT_INFO=+/179.1kb/22/3.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2085+53G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf101+c.2085+53G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:244747294">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,17:40:99:667,0,1492:127	0|0:61,0:61:99:0,199,4413:127	1|0:17,17:34:99:660,0,1059:127
1	244754961	.	C	A	3408.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41269387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41269387" target="_blank">rs41269387</a>;ExAC.Info.AC=16284;ExAC.Info.AN=126572;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=12670;ExAC.Info.AC_Hom=1545;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2139-22C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2139C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366534;SAVANT_GENE=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;SAVANT_INFO=+/179.1kb/22/3.3kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2139-22C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf101+c.2139-22C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:244754961">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,24:47:99:719,0,716:127	0|0:48,0:48:99:0,144,1821:127	1|0:15,34:49:99:952,0,442:127
1	244803205	.	CTT	C	13121.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;dbSNP139.ID=rs60280231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60280231" target="_blank">rs60280231</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2703-24_2703-23delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703_2704delTT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366534;SAVANT_GENE=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;SAVANT_INFO=+/179.1kb/22/3.3kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2703-12_2703-11delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf101+c.2703-12_2703-11delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:244803205">View</a>	GT:AD:DP:GQ:PL	./1:0,34:53:99:1436,443,368	./1:3,62:95:99:2384,625,709	./1:1,31:51:99:1341,417,381
1	244803205	.	CTT	CT	13121.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2703-23delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2703delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366534;SAVANT_GENE=C1orf101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf101" target="_blank">C1orf101</a>;SAVANT_INFO=+/179.1kb/22/3.3kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2703-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf101+c.2703-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:244803205">View</a>	GT:AD:DP:GQ:PL	./1:0,19:53:99:1436,764,621	./1:3,30:95:99:2384,1278,1100	./1:1,19:51:99:1341,690,576
1	245005373	.	A	G	4250.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10927335;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10927335" target="_blank">rs10927335</a>;ExAC.Info.AC=21342;ExAC.Info.AN=126698;ExAC.Info.AF=0.168;ExAC.Info.AC_Het=16559;ExAC.Info.AC_Hom=2358;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3574T>C;snpeff.Gene_Name=HNRNPU-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU-AS1" target="_blank">HNRNPU-AS1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000366527;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.193+13A>G;snpeff.Amino_Acid_length=130;snpeff.Gene_Name=COX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU-AS1" target="_blank">HNRNPU-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366528;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000411948;SAVANT_GENE=FAM36A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM36A" target="_blank">FAM36A</a>;SAVANT_INFO=+/9.7kb/4/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.157+13A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM36A+c.157+13A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245005373">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,26:54:99:720,0,662:127	1|0:32,43:75:99:1230,0,844:127	0|0:57,0:57:99:0,171,1716:127
1	245006492	.	T	TAGAAA	3375.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=366;MQ=69.38;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs199795132;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199795132" target="_blank">rs199795132</a>;ExAC.Info.AC=138;ExAC.Info.AN=123502;ExAC.Info.AF=1.117e-03;ExAC.Info.AC_Het=22;ExAC.Info.AC_Hom=2;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2454_2455insTTTCT;snpeff.Gene_Name=HNRNPU-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU-AS1" target="_blank">HNRNPU-AS1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000366527;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.*15_*16insAGAAA;snpeff.Amino_Acid_length=130;snpeff.Gene_Name=COX20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU-AS1" target="_blank">HNRNPU-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366528;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000411948;SAVANT_GENE=FAM36A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM36A" target="_blank">FAM36A</a>;SAVANT_INFO=+/9.7kb/4/2.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*18_*19insAAGAA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM36A+c.*18_*19insAAGAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245006492">View</a>	GT:AD:DP:GQ:PL:TP	0|1:66,38:104:99:1428,0,3463:127	1|0:90,21:111:99:610,0,4606:127	0|0:151,0:151:99:0,456,8712:127
1	245018624	.	C	A	8803.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=499;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10927336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10927336" target="_blank">rs10927336</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HNRNPU-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU-AS1" target="_blank">HNRNPU-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2352+102G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=HNRNPU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU-AS1" target="_blank">HNRNPU-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000283179;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2353C>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=HNRNPU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU-AS1" target="_blank">HNRNPU-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000283179;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2353C>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=HNRNPU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU-AS1" target="_blank">HNRNPU-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000283179;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2353C>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=HNRNPU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU-AS1" target="_blank">HNRNPU-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000283179;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2353C>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=HNRNPU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU-AS1" target="_blank">HNRNPU-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000283179;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000283179;SAVANT_GENE=HNRNPU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU" target="_blank">HNRNPU</a>;SAVANT_INFO=-/11.1kb/14/3.7kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2352+102G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HNRNPU+c.2352+102G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245018624">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,78:146:99:2053,0,2082:127	1|0:91,82:173:99:2245,0,2786:127	0|0:180,0:180:99:0,541,6401:127
1	245021291	.	TA	T	5154.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11299108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11299108" target="_blank">rs11299108</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1494+21delT;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=HNRNPU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU" target="_blank">HNRNPU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000283179;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000283179;SAVANT_GENE=HNRNPU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPU" target="_blank">HNRNPU</a>;SAVANT_INFO=-/11.1kb/14/3.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1494+21delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HNRNPU+c.1494+21delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245021291">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,63:122:99:1175,0,1190:127	1|0:68,64:132:99:1197,0,1347:127	0|0:112,7:119:99:0,169,2671:127
1	245133489	.	T	G	4195.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=61;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7545078;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7545078" target="_blank">rs7545078</a>;ExAC.Info.AC=9644;ExAC.Info.AN=19114;ExAC.Info.AF=0.505;ExAC.Info.AC_Het=2819;ExAC.Info.AC_Hom=2389;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro296Pro/c.888A>C;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=RP11-156E8.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-156E81" target="_blank">RP11-156E81</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607453;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gGg;snpeff.Amino_Acid_Change=p.Val22Gly/c.65T>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-156E81" target="_blank">RP11-156E81</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366523;SAVANT_GENE=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;SAVANT_INFO=+/118.0kb/8/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-232T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB2+c.-232T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245133489">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:574,45,0:45	1|0:16,15:31:99:420,0,409:45	1|0:10,5:15:99:159,0,271:45
1	245133539	.	A	G	6410.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=56;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7542813;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7542813" target="_blank">rs7542813</a>;ExAC.Info.AC=18500;ExAC.Info.AN=18568;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=5749;snpeff.Effect=TF_binding_site_variant[MA0024.1:E2F1];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acg/Gcg;snpeff.Amino_Acid_Change=p.Thr39Ala/c.115A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttt/Ctt;snpeff.Amino_Acid_Change=p.Phe280Leu/c.838T>C;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=RP11-156E8.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607453;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366523;SAVANT_GENE=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;SAVANT_INFO=+/118.0kb/8/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-182A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB2+c.-182A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245133539">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,14:14:42:596,42,0:44	1|1:0,27:27:81:1120,81,0:44	1|1:0,15:15:45:598,45,0:44
1	245133549	.	GGC	G	3217.99	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10536649;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10536649" target="_blank">rs10536649</a>;ExAC.Info.AC=9710;ExAC.Info.AN=22714;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=2420;ExAC.Info.AC_Hom=1973;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=gggcgc/;snpeff.Amino_Acid_Change=p.Gly42fs/c.126_127delGC;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=gcc/;snpeff.Amino_Acid_Change=p.Ala276fs/c.826_827delGC;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=RP11-156E8.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607453;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(EFCAB2|ENSG00000203666|1|1.00),(RP11-156E8.1|ENSG00000272195|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000366523;SAVANT_GENE=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;SAVANT_INFO=+/118.0kb/8/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-165_-164delGC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB2+c.-165_-164delGC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245133549">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,10:10:30:415,30,0:30	1|0:13,10:23:99:350,0,472:30	1|0:7,5:12:99:174,0,255:30
1	245133623	.	T	TCCTCC	8204.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs145835471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145835471" target="_blank">rs145835471</a>;ExAC.Info.AC=19871;ExAC.Info.AN=53720;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=3056;ExAC.Info.AC_Hom=2515;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=tcc/tCCTCCcc;snpeff.Amino_Acid_Change=p.Ser67_Ser68fs/c.200_201insCCTCC;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=agg/aggGGAGG;snpeff.Amino_Acid_Change=p.Arg251_Arg252fs/c.753_754insGGAGG;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=RP11-156E8.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607453;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(EFCAB2|ENSG00000203666|1|1.00),(RP11-156E8.1|ENSG00000272195|1|1.00);TYPE=Insertion;SAVANT_ENST=ENST00000366523;SAVANT_GENE=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;SAVANT_INFO=+/118.0kb/8/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-97_-93dup5;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB2+c.-97_-93dup5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245133623">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:81:1164,81,0:81	1|0:21,26:47:99:1070,0,760:81	1|0:20,8:28:99:317,0,806:81
1	245133662	.	G	C	8555.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61844237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61844237" target="_blank">rs61844237</a>;ExAC.Info.AC=23167;ExAC.Info.AN=77146;ExAC.Info.AF=0.300;ExAC.Info.AC_Het=3645;ExAC.Info.AC_Hom=2166;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Cgg;snpeff.Amino_Acid_Change=p.Gly80Arg/c.238G>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Ggg;snpeff.Amino_Acid_Change=p.Arg239Gly/c.715C>G;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=RP11-156E8.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607453;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366523;SAVANT_GENE=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;SAVANT_INFO=+/118.0kb/8/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-59G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB2+c.-59G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245133662">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1461,138,0:127	1|0:27,31:58:99:805,0,679:127	1|0:22,20:42:99:526,0,596:127
1	245180639	.	AT	A	895.73	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34180210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34180210" target="_blank">rs34180210</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.518+12delT;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.519delT;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.519delT;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366523;SAVANT_GENE=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;SAVANT_INFO=+/118.0kb/8/1.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.110+22delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB2+c.110+22delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245180639">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,1:42:98:0,98,1121:42	0|0:56,5:61:42:0,42,1406:42	0|1:17,21:38:99:471,0,362:42
1	245222839	.	G	T	19519.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs579269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=579269" target="_blank">rs579269</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.591+79G>T;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366523;SAVANT_GENE=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;SAVANT_INFO=+/118.0kb/8/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.183+79G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB2+c.183+79G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245222839">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2869,249,0:127	1|1:0,93:93:99:3234,279,0:127	1|1:0,75:75:99:2798,226,0:127
1	245245378	.	T	C	3044.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10927386;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10927386" target="_blank">rs10927386</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=44120;ExAC.Info.AN=126698;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=27781;ExAC.Info.AC_Hom=8125;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.592-7T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366523;SAVANT_GENE=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;SAVANT_INFO=+/118.0kb/8/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.184-7T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB2+c.184-7T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245245378">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,153,2825:127	0|1:43,43:86:99:1541,0,2325:127	0|0:72,0:72:99:0,220,3805:127
1	245245402	.	C	T	2768.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10927387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10927387" target="_blank">rs10927387</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=43632;ExAC.Info.AN=126698;ExAC.Info.AF=0.344;ExAC.Info.AC_Het=27555;ExAC.Info.AC_Hom=8017;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro203Pro/c.609C>T;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366522;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366523;SAVANT_GENE=EFCAB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB2" target="_blank">EFCAB2</a>;SAVANT_INFO=+/118.0kb/8/1.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.201C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB2+c.201C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245245402">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,2636:127	0|1:36,38:74:99:1403,0,2146:127	0|0:54,0:54:99:0,168,3268:127
1	245318688	.	C	T	13494.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=451;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12409851;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12409851" target="_blank">rs12409851</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39;snpeff.Amino_Acid_Change=c.-39C>T;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000407071;SAVANT_GENE=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;SAVANT_INFO=+/548.1kb/15/7.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-39C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF26B+c.-39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245318688">View</a>	GT:AD:DP:GQ:PL:TP	0/1:75,62:137:99:1546,0,2124:127	0/1:86,82:168:99:2222,0,2458:127	0/1:90,56:146:99:1453,0,2568:127
1	245703990	.	G	T	22617.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs9919234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9919234" target="_blank">rs9919234</a>;ExAC.Info.AC=74501;ExAC.Info.AN=124854;ExAC.Info.AF=0.597;ExAC.Info.AC_Het=29737;ExAC.Info.AC_Hom=22161;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1167-79G>T;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000407071;SAVANT_GENE=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;SAVANT_INFO=+/548.1kb/15/7.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1167-79G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF26B+c.1167-79G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245703990">View</a>	GT:AD:DP:GQ:PL:TP	0|1:69,63:132:99:1794,0,2252:127	1|1:0,176:176:99:6127,529,0:127	0|1:63,78:141:99:2239,0,2166:127
1	245849000	.	C	T	17893.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=476;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs61744485;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61744485" target="_blank">rs61744485</a>;ExAC.Info.AC=18602;ExAC.Info.AN=124698;ExAC.Info.AF=0.149;ExAC.Info.AC_Het=14389;ExAC.Info.AC_Hom=1788;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro905Pro/c.2715C>T;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000407071;SAVANT_GENE=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;SAVANT_INFO=+/548.1kb/15/7.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2715C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF26B+c.2715C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245849000">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,82:164:99:2301,0,2242:127	0|0:170,0:170:99:0,511,5915:127	1|1:0,142:142:99:4980,426,0:127
1	245849444	.	C	T	7397.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs201841118;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201841118" target="_blank">rs201841118</a>;ExAC.Info.AC=480;ExAC.Info.AN=124970;ExAC.Info.AF=3.841e-03;ExAC.Info.AC_Het=453;ExAC.Info.AC_Hom=4;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys1053Cys/c.3159C>T;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000407071;SAVANT_GENE=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;SAVANT_INFO=+/548.1kb/15/7.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.3159C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF26B+c.3159C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245849444">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,46:93:99:1234,0,1376:127	0|0:118,0:118:99:0,355,4489:127	1|0:36,34:70:99:1002,0,1155:127
1	245850095	.	C	T	5588.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=612;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs871840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=871840" target="_blank">rs871840</a>;ExAC.Info.AC=24689;ExAC.Info.AN=125418;ExAC.Info.AF=0.197;ExAC.Info.AC_Het=18294;ExAC.Info.AC_Hom=2922;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp1270Asp/c.3810C>T;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000407071;SAVANT_GENE=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;SAVANT_INFO=+/548.1kb/15/7.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.3810C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF26B+c.3810C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245850095">View</a>	GT:AD:DP:GQ:PL:TP	0|0:194,0:194:99:0,583,6472:127	0|0:225,0:225:99:0,676,7823:127	0|1:100,93:193:99:2813,0,2945:127
1	245850506	.	G	C	6773.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3806273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3806273" target="_blank">rs3806273</a>;ExAC.Info.AC=6539;ExAC.Info.AN=124996;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=5472;ExAC.Info.AC_Hom=438;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro1407Pro/c.4221G>C;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000407071;SAVANT_GENE=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;SAVANT_INFO=+/548.1kb/15/7.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.4221G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF26B+c.4221G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245850506">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,37:67:99:1428,0,1427:127	0|0:60,0:60:99:0,196,3728:127	1|0:24,25:49:99:936,0,1372:127
1	245850513	.	C	G	6598.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs113972282;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113972282" target="_blank">rs113972282</a>;ExAC.Info.AC=484;ExAC.Info.AN=125016;ExAC.Info.AF=3.872e-03;ExAC.Info.AC_Het=471;ExAC.Info.AC_Hom=2;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Gcc;snpeff.Amino_Acid_Change=p.Pro1410Ala/c.4228C>G;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000407071;SAVANT_GENE=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;SAVANT_INFO=+/548.1kb/15/7.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.4228C>G_p.Pro1410Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF26B+c.4228C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245850513">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,33:62:99:1344,0,1436:127	0|0:58,0:58:99:0,175,3469:127	1|0:28,22:50:99:905,0,1442:127
1	245851304	.	A	G	22445.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6701084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6701084" target="_blank">rs6701084</a>;ExAC.Info.AC=108592;ExAC.Info.AN=110890;ExAC.Info.AF=0.979;ExAC.Info.AC_Het=605;ExAC.Info.AC_Hom=18942;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5019A>G;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr1673Thr/c.5019A>G;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000407071;SAVANT_GENE=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;SAVANT_INFO=+/548.1kb/15/7.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.5019A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF26B+c.5019A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245851304">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2357,204,0:127	1|1:0,80:80:99:2812,240,0:127	1|1:0,86:86:99:2826,258,0:127
1	245861376	.	G	A	4167.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72764865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72764865" target="_blank">rs72764865</a>;ExAC.Info.AC=475;ExAC.Info.AN=124904;ExAC.Info.AF=3.803e-03;ExAC.Info.AC_Het=425;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5825-32G>A;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000407071;SAVANT_GENE=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;SAVANT_INFO=+/548.1kb/15/7.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.5825-32G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF26B+c.5825-32G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245861376">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,21:48:99:571,0,946:127	0|0:77,1:78:99:0,195,2990:127	1|0:41,34:75:99:1034,0,1394:127
1	245861571	.	C	T	14389.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3205034;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3205034" target="_blank">rs3205034</a>;ExAC.Info.AC=61377;ExAC.Info.AN=124918;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=29689;ExAC.Info.AC_Hom=15672;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp1996Asp/c.5988C>T;snpeff.Amino_Acid_length=2108;snpeff.Gene_Name=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407071;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000407071;SAVANT_GENE=KIF26B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF26B" target="_blank">KIF26B</a>;SAVANT_INFO=+/548.1kb/15/7.3kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.5988C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF26B+c.5988C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:245861571">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2041,171,0:127	1|1:0,71:71:99:2766,214,0:127	1|0:36,25:61:99:724,0,1154:127
1	246021941	.	T	C	13148.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2362587;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2362587" target="_blank">rs2362587</a>;ExAC.Info.AC=71939;ExAC.Info.AN=126704;ExAC.Info.AF=0.568;ExAC.Info.AC_Het=26077;ExAC.Info.AC_Hom=22913;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.933T>C;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala311Ala/c.933A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388985;SAVANT_GENE=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;SAVANT_INFO=-/757.7kb/12/1.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.933A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMYD3+c.933A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246021941">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,37:88:99:1000,0,1308:127	1|1:0,110:110:99:3702,330,0:127	0|1:54,44:98:99:1138,0,1505:127
1	246093465	.	GAA	GA	9873.8	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1/1;NA12892_GT=0/1;NA12891_GT=1/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.532-228delT;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000388985;SAVANT_GENE=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;SAVANT_INFO=-/757.7kb/12/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.532-227delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMYD3+c.532-227delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246093465">View</a>	GT:AD:DP:GQ:PL	1/1:9,59:77:15:1406,15,0	1/1:11,72:94:35:1714,35,0	0/1:56,31:92:99:581,0,1018
1	246489706	.	GA	G	4478.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs57404221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57404221" target="_blank">rs57404221</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.531+796delT;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532delA;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000388985;SAVANT_GENE=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;SAVANT_INFO=-/757.7kb/12/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.531+796delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMYD3+c.531+796delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246489706">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,4:89:99:0,158,2270:127	0|1:52,51:103:99:1139,0,1139:127	0|1:44,52:96:99:1125,0,954:127
1	246490452	.	G	A	7388.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3737247;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737247" target="_blank">rs3737247</a>;ExAC.Info.AC=66007;ExAC.Info.AN=126696;ExAC.Info.AF=0.521;ExAC.Info.AC_Het=29412;ExAC.Info.AC_Hom=18249;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.531+51C>T;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532G>A;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388985;SAVANT_GENE=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;SAVANT_INFO=-/757.7kb/12/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.531+51C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMYD3+c.531+51C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246490452">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,268,5952:127	0|1:53,48:101:99:1776,0,3089:127	0|1:47,51:98:99:1938,0,2899:127
1	246670333	.	A	G	8922.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6426303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6426303" target="_blank">rs6426303</a>;ExAC.Info.AC=23220;ExAC.Info.AN=23724;ExAC.Info.AF=0.979;ExAC.Info.AC_Het=235;ExAC.Info.AC_Hom=7378;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.164+23T>C;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYND-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYND-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYND-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388985;SAVANT_GENE=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;SAVANT_INFO=-/757.7kb/12/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.164+23T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMYD3+c.164+23T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246670333">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1112,87,0:89	1|1:0,30:30:90:1082,90,0:89	1|1:0,32:32:96:1197,96,0:89
1	246670481	.	C	G	17788.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7520453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7520453" target="_blank">rs7520453</a>;ExAC.Info.AC=20651;ExAC.Info.AN=25962;ExAC.Info.AF=0.795;ExAC.Info.AC_Het=2991;ExAC.Info.AC_Hom=7053;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>G;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaG/aaC;snpeff.Amino_Acid_Change=p.Lys13Asn/c.39G>C;snpeff.Amino_Acid_length=428;snpeff.Gene_Name=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388985;SAVANT_GENE=SMYD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMYD3" target="_blank">SMYD3</a>;SAVANT_INFO=-/757.7kb/12/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.39G>C_p.Lys13Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMYD3+c.39G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246670481">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1819,153,0:127	1|1:0,61:61:99:2160,183,0:127	1|1:0,54:54:99:1905,162,0:127
1	246707858	.	A	G	476.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3129568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3129568" target="_blank">rs3129568</a>;ExAC.Info.AC=26187;ExAC.Info.AN=126702;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=19601;ExAC.Info.AC_Hom=3283;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe328Phe/c.984T>C;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366514;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366514;SAVANT_GENE=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;SAVANT_INFO=-/25.8kb/8/1.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.984T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TFB2M+c.984T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246707858">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1225:77	0|0:26,0:26:78:0,78,916:77	0|1:23,10:33:99:257,0,696:77
1	246711816	.	GA	G	16735.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs5782396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5782396" target="_blank">rs5782396</a>;ExAC.Info.AC=53202;ExAC.Info.AN=126576;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=29532;ExAC.Info.AC_Hom=11660;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.858+30delT;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366514;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366514;SAVANT_GENE=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;SAVANT_INFO=-/25.8kb/8/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.858+30delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TFB2M+c.858+30delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246711816">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:2998,286,0:127	1|1:0,115:115:99:3628,346,0:127	1|0:48,55:103:99:1438,0,1245:127
1	246714587	.	G	A	8975.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10754526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10754526" target="_blank">rs10754526</a>;ExAC.Info.AC=56205;ExAC.Info.AN=126704;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=30692;ExAC.Info.AC_Hom=12700;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro241Pro/c.723C>T;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366514;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366514;SAVANT_GENE=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;SAVANT_INFO=-/25.8kb/8/1.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.723C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TFB2M+c.723C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246714587">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,30:31:70:980,70,0:70	1|1:0,55:55:99:1833,165,0:70	1|0:26,23:49:99:660,0,664:70
1	246714631	.	T	A	8980.96	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs80342781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80342781" target="_blank">rs80342781</a>;ExAC.Info.AC=54605;ExAC.Info.AN=126624;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=30968;ExAC.Info.AC_Hom=11048;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.706-27A>T;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366514;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366514;SAVANT_GENE=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;SAVANT_INFO=-/25.8kb/8/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.706-27A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TFB2M+c.706-27A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246714631">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,25:26:11:1057,11,0:11	1|1:0,44:44:99:1980,132,0:11	1|0:18,19:37:99:744,0,1127:11
1	246714632	.	G	A	8980.96	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs75477023;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75477023" target="_blank">rs75477023</a>;ExAC.Info.AC=54605;ExAC.Info.AN=126620;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=30927;ExAC.Info.AC_Hom=11008;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.706-28C>T;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366514;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366514;SAVANT_GENE=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;SAVANT_INFO=-/25.8kb/8/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.706-28C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TFB2M+c.706-28C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246714632">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,25:26:11:1057,11,0:11	1|1:0,44:44:99:1980,132,0:11	1|0:18,19:37:99:744,0,1127:11
1	246714636	.	T	A	8845.51	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs34850511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34850511" target="_blank">rs34850511</a>;ExAC.Info.AC=54588;ExAC.Info.AN=126602;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=30741;ExAC.Info.AC_Hom=10881;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.706-32A>T;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366514;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366514;SAVANT_GENE=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;SAVANT_INFO=-/25.8kb/8/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.706-32A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TFB2M+c.706-32A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246714636">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,23:24:5:967,5,0:6	1|1:0,43:43:99:1973,132,0:6	1|0:17,19:36:99:747,0,1070:6
1	246720798	.	G	A	27193.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3124071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3124071" target="_blank">rs3124071</a>;ExAC.Info.AC=126701;ExAC.Info.AN=126702;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=63328;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile147Ile/c.441C>T;snpeff.Amino_Acid_length=396;snpeff.Gene_Name=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366514;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366514;SAVANT_GENE=TFB2M;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFB2M" target="_blank">TFB2M</a>;SAVANT_INFO=-/25.8kb/8/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.441C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TFB2M+c.441C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246720798">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:3713,348,0:127	1|1:0,115:115:99:3800,345,0:127	1|1:0,122:122:99:4069,367,0:127
1	246755124	.	T	C	13520.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6702823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702823" target="_blank">rs6702823</a>;ExAC.Info.AC=115133;ExAC.Info.AN=126694;ExAC.Info.AF=0.909;ExAC.Info.AC_Het=10409;ExAC.Info.AC_Hom=52280;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTg/tCg;snpeff.Amino_Acid_Change=p.Leu87Ser/c.260T>C;snpeff.Amino_Acid_length=725;snpeff.Gene_Name=CNST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNST" target="_blank">CNST</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366513;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366513;SAVANT_GENE=CNST;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNST" target="_blank">CNST</a>;SAVANT_INFO=+/102.1kb/11/5.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.260T>C_p.Leu87Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNST+c.260T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246755124">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2530,219,0:127	1|0:44,33:77:99:877,0,1318:127	1|1:0,62:62:99:2077,186,0:127
1	246903654	.	G	C	5853.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3007322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3007322" target="_blank">rs3007322</a>;ExAC.Info.AC=44030;ExAC.Info.AN=126622;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=26692;ExAC.Info.AC_Hom=8299;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.514+51G>C;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SCCPDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCCPDH" target="_blank">SCCPDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366510;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366510;SAVANT_GENE=SCCPDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCCPDH" target="_blank">SCCPDH</a>;SAVANT_INFO=+/44.1kb/12/2.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.514+51G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCCPDH+c.514+51G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246903654">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:978,78,0:77	1|1:0,42:42:99:1491,126,0:77	1|0:26,14:40:99:437,0,851:77
1	246929483	.	A	G	15236.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs12144408;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12144408" target="_blank">rs12144408</a>;ExAC.Info.AC=48488;ExAC.Info.AN=126672;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=28240;ExAC.Info.AC_Hom=10009;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1184+42A>G;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SCCPDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCCPDH" target="_blank">SCCPDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366510;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366510;SAVANT_GENE=SCCPDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCCPDH" target="_blank">SCCPDH</a>;SAVANT_INFO=+/44.1kb/12/2.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1184+42A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCCPDH+c.1184+42A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246929483">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:2024,162,0:127	1|1:0,90:90:99:3402,271,0:127	1|0:27,37:64:99:1237,0,748:127
1	246930564	.	G	C	3416.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7779;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7779" target="_blank">rs7779</a>;ExAC.Info.AC=6409;ExAC.Info.AN=126704;ExAC.Info.AF=0.051;ExAC.Info.AC_Het=5934;ExAC.Info.AC_Hom=238;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Cgt;snpeff.Amino_Acid_Change=p.Gly418Arg/c.1252G>C;snpeff.Amino_Acid_length=429;snpeff.Gene_Name=SCCPDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCCPDH" target="_blank">SCCPDH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366510;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366510;SAVANT_GENE=SCCPDH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCCPDH" target="_blank">SCCPDH</a>;SAVANT_INFO=+/44.1kb/12/2.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1252G>C_p.Gly418Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCCPDH+c.1252G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246930564">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,361,4058:127	0|0:131,0:131:99:0,394,4376:127	0|1:61,63:124:99:1727,0,1678:127
1	246939513	.	G	A	1260.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3795467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795467" target="_blank">rs3795467</a>;ExAC.Info.AC=4521;ExAC.Info.AN=22416;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=3143;ExAC.Info.AC_Hom=523;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2747C>T;snpeff.Gene_Name=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000504864;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.199G>A;snpeff.Gene_Name=RP11-439E19.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421003;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439E198+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246939513">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2673:127	0|0:84,0:84:99:0,252,2867:127	0|1:25,21:46:99:649,0,727:127
1	246939610	.	A	ATATT	37383.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=414;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3838991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3838991" target="_blank">rs3838991</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.297_298insTATT;snpeff.Gene_Name=RP11-439E19.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E193" target="_blank">RP11-439E193</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421003;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2705-55_2705-56insAATA;snpeff.Gene_Name=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E193" target="_blank">RP11-439E193</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000504864;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000451123;SAVANT_GENE=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;SAVANT_INFO=-/13.4kb/10/1.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.785-59_785-56dupAATA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439E198+c.785-59_785-56dupAATA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246939610">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,141:141:99:6495,441,0:127	1|1:0,141:141:99:6756,456,0:127	1|0:64,68:132:99:2718,0,2438:127
1	246939856	.	G	A	13614.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3795465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795465" target="_blank">rs3795465</a>;ExAC.Info.AC=9366;ExAC.Info.AN=22678;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=4808;ExAC.Info.AC_Hom=2073;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2690C>T;snpeff.Gene_Name=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000504864;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.542G>A;snpeff.Gene_Name=RP11-439E19.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421003;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000451123;SAVANT_GENE=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;SAVANT_INFO=-/13.4kb/10/1.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.770C>T_p.Thr257Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439E198+c.770C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246939856">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2270,198,0:127	1|1:1,87:88:99:3010,255,0:127	1|0:30,24:54:99:692,0,949:127
1	246939943	.	T	C	14705.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6685364;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6685364" target="_blank">rs6685364</a>;ExAC.Info.AC=7842;ExAC.Info.AN=22320;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=4230;ExAC.Info.AC_Hom=1539;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2603A>G;snpeff.Gene_Name=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000504864;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.629T>C;snpeff.Gene_Name=RP11-439E19.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421003;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000451123;SAVANT_GENE=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;SAVANT_INFO=-/13.4kb/10/1.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.683A>G_p.Lys228Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439E198+c.683A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246939943">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2214,180,0:127	1|1:0,71:71:99:2639,213,0:127	1|0:30,36:66:99:933,0,862:127
1	246940179	.	G	A	19010.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3795464;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795464" target="_blank">rs3795464</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.865G>A;snpeff.Gene_Name=RP11-439E19.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E193" target="_blank">RP11-439E193</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421003;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2559+57C>T;snpeff.Gene_Name=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E193" target="_blank">RP11-439E193</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000504864;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000451123;SAVANT_GENE=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;SAVANT_INFO=-/13.4kb/10/1.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.639+57C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439E198+c.639+57C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246940179">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2804,190,0:127	1|1:0,88:88:99:3960,265,0:127	1|0:38,25:63:99:970,0,2107:127
1	246940182	.	C	A	18952.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3795463;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3795463" target="_blank">rs3795463</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.868C>A;snpeff.Gene_Name=RP11-439E19.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E193" target="_blank">RP11-439E193</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421003;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2559+54G>T;snpeff.Gene_Name=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E193" target="_blank">RP11-439E193</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000504864;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000451123;SAVANT_GENE=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;SAVANT_INFO=-/13.4kb/10/1.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.639+54G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439E198+c.639+54G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246940182">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2804,190,0:127	1|1:0,88:88:99:3960,265,0:127	1|0:38,24:62:99:929,0,2110:127
1	246942159	.	G	A	1984.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7512440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7512440" target="_blank">rs7512440</a>;ExAC.Info.AC=4099;ExAC.Info.AN=22432;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=1984;ExAC.Info.AC_Hom=327;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2241C>T;snpeff.Gene_Name=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;snpeff.Transcript_BioType=unitary_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000504864;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1091-1527G>A;snpeff.Gene_Name=RP11-439E19.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421003;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000451123;SAVANT_GENE=RP11-439E19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-439E198" target="_blank">RP11-439E198</a>;SAVANT_INFO=-/13.4kb/10/1.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.321C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-439E198+c.321C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:246942159">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2508:127	0|0:112,0:112:99:0,335,3680:127	0|1:50,36:86:99:1011,0,1394:127
1	247006051	.	G	C	4413.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12410563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12410563" target="_blank">rs12410563</a>;ExAC.Info.AC=30932;ExAC.Info.AN=126682;ExAC.Info.AF=0.244;ExAC.Info.AC_Het=22347;ExAC.Info.AC_Hom=4229;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6658G>C;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Gtg;snpeff.Amino_Acid_Change=p.Leu2220Val/c.6658C>G;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326225;SAVANT_GENE=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;SAVANT_INFO=-/92.3kb/36/8.6kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.6580C>G_p.Leu2194Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AHCTF1+c.6580C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247006051">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,28:63:99:808,0,909:127	1|0:40,36:76:99:1018,0,1183:127	0|0:71,0:71:99:0,213,2277:127
1	247013492	.	C	T	8286.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=892;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs143303729;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=143303729" target="_blank">rs143303729</a>;ExAC.Info.AC=289;ExAC.Info.AN=126704;ExAC.Info.AF=2.281e-03;ExAC.Info.AC_Het=289;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5921C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGa/aAa;snpeff.Amino_Acid_Change=p.Arg1974Lys/c.5921G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326225;SAVANT_GENE=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;SAVANT_INFO=-/92.3kb/36/8.6kb;SAVANT_LOC=Ex33;SAVANT_HGVS=c.5843G>A_p.Arg1948Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AHCTF1+c.5843G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247013492">View</a>	GT:AD:DP:GQ:PL:TP	0|0:275,0:275:99:0,826,9553:127	0|1:183,149:332:99:4162,0,5463:127	0|0:285,0:285:99:0,856,10248:127
1	247021138	.	A	T	4213.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41310593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41310593" target="_blank">rs41310593</a>;ExAC.Info.AC=6300;ExAC.Info.AN=126654;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=5804;ExAC.Info.AC_Hom=224;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4238-22T>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4238A>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326225;SAVANT_GENE=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;SAVANT_INFO=-/92.3kb/36/8.6kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.4160-22T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AHCTF1+c.4160-22T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247021138">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,27:60:99:688,0,874:127	1|0:30,46:76:99:1183,0,837:127	0|0:67,0:67:99:0,201,2214:127
1	247024326	.	G	A	1146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=143;MQ=58.29;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41304151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41304151" target="_blank">rs41304151</a>;ExAC.Info.AC=3426;ExAC.Info.AN=126700;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=3288;ExAC.Info.AC_Hom=65;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Disordered];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_nuclear_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4112G>A;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr1371Met/c.4112C>T;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326225;SAVANT_GENE=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;SAVANT_INFO=-/92.3kb/36/8.6kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.4034C>T_p.Thr1345Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AHCTF1+c.4034C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247024326">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1554:127	0|0:49,0:49:99:0,147,1790:127	0|1:29,21:50:99:592,0,845:127
1	247091604	.	CAA	C	535.84	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=65;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.98+2825_98+2826delTT;snpeff.Amino_Acid_length=2301;snpeff.Gene_Name=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366508;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000326225;SAVANT_GENE=AHCTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AHCTF1" target="_blank">AHCTF1</a>;SAVANT_INFO=-/92.3kb/36/8.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.20+3004_20+3005delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AHCTF1+c.20+3004_20+3005delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247091604">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,5:25:50:50,0,353:23	1|0:14,8:22:99:136,0,240:23	0|0:17,1:18:23:0,23,376:23
1	247109168	.	G	A	9529.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6426191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6426191" target="_blank">rs6426191</a>;ExAC.Info.AC=5884;ExAC.Info.AN=20872;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=3381;ExAC.Info.AC_Hom=844;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF670+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247109168">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,58:128:99:1527,0,1851:127	1|0:75,79:154:99:2363,0,2034:127	0|0:125,0:125:99:0,376,4274:127
1	247109267	.	A	C	18116.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2642983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2642983" target="_blank">rs2642983</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF670+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247109267">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:3236,262,0:127	1|0:43,67:110:99:2250,0,1222:127	1|0:65,39:104:99:1400,0,1932:127
1	247130853	.	G	C	10236.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56340574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56340574" target="_blank">rs56340574</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF670+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247130853">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,48:88:99:1546,0,1226:127	1|0:66,75:141:99:2335,0,1937:127	0|0:155,1:156:99:0,428,5428:127
1	247150740	.	T	C	5801.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3749427;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3749427" target="_blank">rs3749427</a>;ExAC.Info.AC=81929;ExAC.Info.AN=126328;ExAC.Info.AF=0.649;ExAC.Info.AC_Het=24757;ExAC.Info.AC_Hom=27880;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1077T>C;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339986;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys359Lys/c.1077A>G;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339986;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339986;SAVANT_GENE=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF695" target="_blank">ZNF695</a>;SAVANT_INFO=-/22.7kb/4/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1077A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF695+c.1077A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247150740">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,252,2891:127	0|1:51,63:114:99:2026,0,1486:127	0|1:46,32:78:99:895,0,1347:127
1	247151487	.	C	T	11628.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=652;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55762230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55762230" target="_blank">rs55762230</a>;ExAC.Info.AC=2564;ExAC.Info.AN=125146;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=2466;ExAC.Info.AC_Hom=46;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atA;snpeff.Amino_Acid_Change=p.Met110Ile/c.330G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339986;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339986;SAVANT_GENE=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF695" target="_blank">ZNF695</a>;SAVANT_INFO=-/22.7kb/4/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.330G>A_p.Met110Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF695+c.330G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247151487">View</a>	GT:AD:DP:GQ:PL:TP	1|0:116,97:213:99:2384,0,3526:127	0|0:231,0:231:99:0,694,8697:127	1|0:121,87:208:99:2359,0,3840:127
1	247162628	.	C	T	17299.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=779;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4384270;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4384270" target="_blank">rs4384270</a>;ExAC.Info.AC=10713;ExAC.Info.AN=126150;ExAC.Info.AF=0.085;ExAC.Info.AC_Het=9069;ExAC.Info.AC_Hom=797;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.259+22G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339986;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339986;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339986;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.260C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339986;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339986;SAVANT_GENE=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF695" target="_blank">ZNF695</a>;SAVANT_INFO=-/22.7kb/4/3.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.259+22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF695+c.259+22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247162628">View</a>	GT:AD:DP:GQ:PL:TP	1|0:116,128:244:99:3510,0,3361:127	0|0:311,0:311:99:0,934,10561:127	1|0:122,102:224:99:2977,0,3643:127
1	247162658	.	C	T	57249.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=707;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2642973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2642973" target="_blank">rs2642973</a>;ExAC.Info.AC=104329;ExAC.Info.AN=126066;ExAC.Info.AF=0.828;ExAC.Info.AC_Het=16705;ExAC.Info.AC_Hom=43498;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.251C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339986;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.251C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339986;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.251C>T;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339986;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGa/aAa;snpeff.Amino_Acid_Change=p.Arg84Lys/c.251G>A;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339986;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339986;SAVANT_GENE=ZNF695;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF695" target="_blank">ZNF695</a>;SAVANT_INFO=-/22.7kb/4/3.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.251G>A_p.Arg84Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF695+c.251G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247162658">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,208:208:99:6959,625,0:127	1|1:0,285:285:99:9513,856,0:127	1|1:0,214:214:99:7421,643,0:127
1	247201591	.	T	C	14601.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=737;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61748726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61748726" target="_blank">rs61748726</a>;ExAC.Info.AC=2230;ExAC.Info.AN=126704;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2149;ExAC.Info.AC_Hom=39;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330T>C;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366503;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys110Lys/c.330A>G;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366503;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366503;SAVANT_GENE=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;SAVANT_INFO=-/42.0kb/4/2.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.330A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF670+c.330A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247201591">View</a>	GT:AD:DP:GQ:PL:TP	1|0:120,123:243:99:3238,0,3372:127	0|0:261,1:262:99:0,753,8926:127	1|0:121,111:232:99:3005,0,3519:127
1	247241850	.	G	C	7037.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41305955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41305955" target="_blank">rs41305955</a>;ExAC.Info.AC=31320;ExAC.Info.AN=126672;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=22167;ExAC.Info.AC_Hom=4347;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3+46C>G;snpeff.Amino_Acid_length=389;snpeff.Gene_Name=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366503;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366503;SAVANT_GENE=ZNF670;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF670" target="_blank">ZNF670</a>;SAVANT_INFO=-/42.0kb/4/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.3+46C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF670+c.3+46C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247241850">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,33:63:99:1066,0,869:127	0|0:98,0:98:99:0,294,3597:127	1|0:43,49:92:99:1431,0,1140:127
1	247263973	.	T	C	4254.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=395;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35316550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35316550" target="_blank">rs35316550</a>;ExAC.Info.AC=4914;ExAC.Info.AN=126704;ExAC.Info.AF=0.039;ExAC.Info.AC_Het=4650;ExAC.Info.AC_Hom=132;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1098T>C;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=ZNF669;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF669" target="_blank">ZNF669</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343381;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln366Gln/c.1098A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=ZNF669;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF669" target="_blank">ZNF669</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343381;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343381;SAVANT_GENE=ZNF669;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF669" target="_blank">ZNF669</a>;SAVANT_INFO=-/4.4kb/4/2.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1098A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF669+c.1098A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247263973">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,405,4240:127	0|1:85,72:157:99:2146,0,2426:127	0|0:103,0:103:99:0,308,3339:127
1	247365430	.	A	G	21776.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10754539;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10754539" target="_blank">rs10754539</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.79-1935T>C;snpeff.Gene_Name=MIR3916;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR3916" target="_blank">MIR3916</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421406;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR3916" target="_blank">MIR3916</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIR3916+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247365430">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4619,399,0:127	1|0:50,63:113:99:1746,0,1350:127	1|1:0,101:101:99:3310,302,0:127
1	247419509	.	T	C	12170.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=632;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1778540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1778540" target="_blank">rs1778540</a>;ExAC.Info.AC=107220;ExAC.Info.AN=124794;ExAC.Info.AF=0.859;ExAC.Info.AC_Het=14258;ExAC.Info.AC_Hom=46463;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.136T>C;snpeff.Gene_Name=VN1R5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VN1R5" target="_blank">VN1R5</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000472952;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VN1R5" target="_blank">VN1R5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=VN1R5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247419509">View</a>	GT:AD:DP:GQ:PL:TP	0|0:190,0:190:99:0,570,6148:127	0|1:131,106:237:99:3045,0,3792:127	0|1:98,107:205:99:3060,0,2863:127
1	247419664	.	C	T	14544.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=791;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1778541;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1778541" target="_blank">rs1778541</a>;ExAC.Info.AC=107062;ExAC.Info.AN=124994;ExAC.Info.AF=0.857;ExAC.Info.AC_Het=14279;ExAC.Info.AC_Hom=46318;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.291C>T;snpeff.Gene_Name=VN1R5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VN1R5" target="_blank">VN1R5</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000472952;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VN1R5" target="_blank">VN1R5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=VN1R5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247419664">View</a>	GT:AD:DP:GQ:PL:TP	0|0:242,0:242:99:0,727,8741:127	0|1:171,166:337:99:4595,0,4863:127	0|1:115,97:212:99:2697,0,3469:127
1	247587477	.	G	A	21912.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cold-induced_autoinflammatory_syndrome|_familial|_120100_(3)|_Muckle-Wells_syndrome|_191900_(3)|_CINCA_syndrome|_607115_(3);dbSNP139.ID=rs3806268;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3806268" target="_blank">rs3806268</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=63384;ExAC.Info.AN=126704;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=29726;ExAC.Info.AC_Hom=16818;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala244Ala/c.732G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336119;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336119;SAVANT_GENE=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;SAVANT_INFO=+/30.8kb/9/4.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.732G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP3+c.732G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247587477">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4347,376,0:127	1|0:76,73:149:99:2370,0,2174:127	1|0:53,67:120:99:2112,0,1549:127
1	247587531	.	A	G	38065.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cold-induced_autoinflammatory_syndrome|_familial|_120100_(3)|_Muckle-Wells_syndrome|_191900_(3)|_CINCA_syndrome|_607115_(3);dbSNP139.ID=rs4925543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4925543" target="_blank">rs4925543</a>;ExAC.Info.AC=119482;ExAC.Info.AN=126704;ExAC.Info.AF=0.943;ExAC.Info.AC_Het=6555;ExAC.Info.AC_Hom=56451;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgG;snpeff.Amino_Acid_Change=p.Arg262Arg/c.786A>G;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336119;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336119;SAVANT_GENE=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;SAVANT_INFO=+/30.8kb/9/4.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.786A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP3+c.786A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247587531">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,139:139:99:4911,418,0:127	1|1:0,167:167:99:6143,502,0:127	1|1:0,139:139:99:5177,418,0:127
1	247588858	.	C	A	3778.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Cold-induced_autoinflammatory_syndrome|_familial|_120100_(3)|_Muckle-Wells_syndrome|_191900_(3)|_CINCA_syndrome|_607115_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|D|T|D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35829419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35829419" target="_blank">rs35829419</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Cryopyrin-associated_periodic_syndrome|_atypical;hgmd_2014.2.OMIM_ID=606416;hgmd_2014.2.PubMed=17509468;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17509468" target="_blank">17509468</a>;ExAC.Info.AC=5158;ExAC.Info.AN=126704;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4871;ExAC.Info.AC_Hom=142;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Aag;snpeff.Amino_Acid_Change=p.Gln705Lys/c.2113C>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336119;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336119;SAVANT_GENE=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;SAVANT_INFO=+/30.8kb/9/4.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2113C>A_p.Gln705Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP3+c.2113C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247588858">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,325,4074:127	0|1:73,68:141:99:1908,0,2517:127	0|0:124,1:125:99:0,337,4625:127
1	247597364	.	G	GAT	29722.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=54;MQ=64.48;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cold-induced_autoinflammatory_syndrome|_familial|_120100_(3)|_Muckle-Wells_syndrome|_191900_(3)|_CINCA_syndrome|_607115_(3);ExAC.Info.AC=61736;ExAC.Info.AN=119492;ExAC.Info.AF=0.517;ExAC.Info.AC_Het=13170;ExAC.Info.AC_Hom=23833;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2328-40_2328-39insAT;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336119;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000336119;SAVANT_GENE=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;SAVANT_INFO=+/30.8kb/9/4.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.2328-41_2328-40insAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP3+c.2328-41_2328-40insAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247597364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,13:13:99:3275,243,0:127	1|1:0,20:20:99:5522,399,0:127	1|1:0,21:21:99:4873,352,0:127
1	247597365	.	G	GTGTTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGA	29549.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=129;MQ=64.28;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cold-induced_autoinflammatory_syndrome|_familial|_120100_(3)|_Muckle-Wells_syndrome|_191900_(3)|_CINCA_syndrome|_607115_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2328-39_2328-38insTGTTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGA;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336119;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000336119;SAVANT_GENE=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;SAVANT_INFO=+/30.8kb/9/4.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.2328-37_2328-36insTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP3+c.2328-37_2328-36insTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247597365">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:99:3275,243,0:127	1|1:0,46:46:99:5519,397,0:127	1|1:0,51:51:99:4791,347,0:127
1	247599232	.	G	A	17020.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Cold-induced_autoinflammatory_syndrome|_familial|_120100_(3)|_Muckle-Wells_syndrome|_191900_(3)|_CINCA_syndrome|_607115_(3);dbSNP139.ID=rs10754557;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10754557" target="_blank">rs10754557</a>;ExAC.Info.AC=74412;ExAC.Info.AN=126698;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=28895;ExAC.Info.AC_Hom=22666;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2499-40G>A;snpeff.Amino_Acid_length=1036;snpeff.Gene_Name=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336119;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336119;SAVANT_GENE=NLRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP3" target="_blank">NLRP3</a>;SAVANT_INFO=+/30.8kb/9/4.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.2499-40G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP3+c.2499-40G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247599232">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2703,225,0:127	1|1:1,96:97:99:3676,281,0:127	1|0:31,22:53:99:670,0,1102:127
1	247614617	.	C	T	2234.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4925663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4925663" target="_blank">rs4925663</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_receptor_function;hgmd_2014.2.PubMed=24316890;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24316890" target="_blank">24316890</a>;ExAC.Info.AC=51000;ExAC.Info.AN=126704;ExAC.Info.AF=0.403;ExAC.Info.AC_Het=29587;ExAC.Info.AC_Hom=10685;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.668C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318749;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gAc;snpeff.Amino_Acid_Change=p.Gly223Asp/c.668G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318749;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318749;SAVANT_GENE=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.668G>A_p.Gly223Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2B11+c.668G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247614617">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,250,3079:127	0|1:55,42:97:99:1136,0,1563:127	0|0:79,0:79:99:0,238,2976:127
1	247614693	.	C	T	19391.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6695302;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6695302" target="_blank">rs6695302</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_receptor_function;hgmd_2014.2.PubMed=24316890;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24316890" target="_blank">24316890</a>;ExAC.Info.AC=122899;ExAC.Info.AN=126702;ExAC.Info.AF=0.970;ExAC.Info.AC_Het=2715;ExAC.Info.AC_Hom=60039;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318749;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val198Met/c.592G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318749;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318749;SAVANT_GENE=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.592G>A_p.Val198Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2B11+c.592G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247614693">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2639,243,0:127	1|1:0,83:83:99:2855,249,0:127	1|1:0,69:69:99:2340,207,0:127
1	247614896	.	A	C	19967.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11583410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11583410" target="_blank">rs11583410</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_receptor_function;hgmd_2014.2.PubMed=24316890;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24316890" target="_blank">24316890</a>;ExAC.Info.AC=54655;ExAC.Info.AN=126698;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=29577;ExAC.Info.AC_Hom=12509;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389A>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318749;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389A>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318749;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aGc;snpeff.Amino_Acid_Change=p.Ile130Ser/c.389T>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318749;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318749;SAVANT_GENE=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.389T>G_p.Ile130Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2B11+c.389T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247614896">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1715,135,0:127	1|1:0,87:87:99:3347,261,0:127	1|1:0,70:70:99:2597,210,0:127
1	247615261	.	GA	G	2397.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35305980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35305980" target="_blank">rs35305980</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=24637876;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24637876" target="_blank">24637876</a>;ExAC.Info.AC=58448;ExAC.Info.AN=126690;ExAC.Info.AF=0.461;ExAC.Info.AC_Het=30727;ExAC.Info.AC_Hom=13824;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.23delA;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318749;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=ttc/;snpeff.Amino_Acid_Change=p.Phe8fs/c.23delT;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318749;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000318749;SAVANT_GENE=OR2B11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2B11" target="_blank">OR2B11</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.23delT;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2B11+c.23delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247615261">View</a>	GT:AD:DP:GQ:PL:TP	0|0:140,0:140:99:0,421,5199:127	0|1:56,41:97:99:1222,0,1801:127	0|0:123,0:123:99:0,370,4571:127
1	247615340	.	C	T	4879.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs55889481;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55889481" target="_blank">rs55889481</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55889481" target="_blank">rs55889481</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247615340">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,38:77:99:1074,0,1134:127	1|0:36,24:60:99:746,0,1088:127	0|0:62,0:62:99:0,186,2354:127
1	247654498	.	G	A	5485.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61070846;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61070846" target="_blank">rs61070846</a>;ExAC.Info.AC=22300;ExAC.Info.AN=126702;ExAC.Info.AF=0.176;ExAC.Info.AC_Het=17748;ExAC.Info.AC_Hom=2267;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.129G>A;snpeff.Gene_Name=OR2W5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W5" target="_blank">OR2W5</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530852;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W5" target="_blank">OR2W5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247654498">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,25:56:99:725,0,866:127	1|0:55,43:98:99:1258,0,1720:127	0|0:93,0:93:99:0,280,3479:127
1	247654993	.	T	C	3746.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10925061;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10925061" target="_blank">rs10925061</a>;ExAC.Info.AC=37304;ExAC.Info.AN=126702;ExAC.Info.AF=0.294;ExAC.Info.AC_Het=25665;ExAC.Info.AC_Hom=5819;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.624T>C;snpeff.Gene_Name=OR2W5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W5" target="_blank">OR2W5</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530852;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W5" target="_blank">OR2W5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247654993">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,297,3446:127	0|0:131,0:131:99:0,393,4549:127	0|1:50,63:113:99:1892,0,1428:127
1	247655275	.	T	C	1720.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12141850;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12141850" target="_blank">rs12141850</a>;ExAC.Info.AC=37448;ExAC.Info.AN=126704;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=25775;ExAC.Info.AC_Hom=5833;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.906T>C;snpeff.Gene_Name=OR2W5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W5" target="_blank">OR2W5</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530852;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W5" target="_blank">OR2W5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247655275">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,297,3155:127	0|0:94,0:94:99:0,282,3206:127	0|1:44,29:73:99:879,0,1195:127
1	247690320	.	C	T	2104.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=416;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2141543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2141543" target="_blank">rs2141543</a>;ExAC.Info.AC=4586;ExAC.Info.AN=20958;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=2847;ExAC.Info.AC_Hom=577;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GCSAML+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247690320">View</a>	GT:AD:DP:GQ:PL:TP	0|0:129,0:129:99:0,387,4367:127	0|0:164,0:164:99:0,491,5615:127	0|1:80,43:123:99:1071,0,2403:127
1	247690417	.	T	G	8341.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12404733;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12404733" target="_blank">rs12404733</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GCSAML+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247690417">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,66:110:99:1958,0,1126:127	1|0:79,62:141:99:1751,0,2379:127	0|0:109,0:109:99:0,327,3619:127
1	247694949	.	G	C	3278.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6702693;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702693" target="_blank">rs6702693</a>;ExAC.Info.AC=20283;ExAC.Info.AN=126704;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=16751;ExAC.Info.AC_Hom=1757;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.865G>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Gtt;snpeff.Amino_Acid_Change=p.Leu289Val/c.865C>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366487;SAVANT_GENE=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2C3" target="_blank">OR2C3</a>;SAVANT_INFO=-/3.7kb/2/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.865C>G_p.Leu289Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2C3+c.865C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247694949">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,190,3717:127	0|1:58,42:100:99:1658,0,3131:127	0|0:60,0:60:99:0,181,3769:127
1	247694958	.	G	A	3460.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6702695;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6702695" target="_blank">rs6702695</a>;ExAC.Info.AC=25881;ExAC.Info.AN=126704;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=20206;ExAC.Info.AC_Hom=2830;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.856G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu286Leu/c.856C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366487;SAVANT_GENE=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2C3" target="_blank">OR2C3</a>;SAVANT_INFO=-/3.7kb/2/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.856C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2C3+c.856C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247694958">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,196,3788:127	0|1:55,48:103:99:1749,0,3074:127	0|0:58,0:58:99:0,175,3692:127
1	247695427	.	C	G	10578.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34220133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34220133" target="_blank">rs34220133</a>;ExAC.Info.AC=15400;ExAC.Info.AN=126704;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=13118;ExAC.Info.AC_Hom=1119;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0139.1:CTCF];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387C>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387C>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agG/agC;snpeff.Amino_Acid_Change=p.Arg129Ser/c.387G>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366487;SAVANT_GENE=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2C3" target="_blank">OR2C3</a>;SAVANT_INFO=-/3.7kb/2/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.387G>C_p.Arg129Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2C3+c.387G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247695427">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,78:131:99:2257,0,1578:127	0|0:167,0:167:99:0,502,5939:127	1|0:43,70:113:99:2168,0,1367:127
1	247695612	.	G	A	33371.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6657127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6657127" target="_blank">rs6657127</a>;ExAC.Info.AC=126639;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=65;ExAC.Info.AC_Hom=63283;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.202G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro68Ser/c.202C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366487;SAVANT_GENE=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2C3" target="_blank">OR2C3</a>;SAVANT_INFO=-/3.7kb/2/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.202C>T_p.Pro68Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2C3+c.202C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247695612">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:4290,378,0:127	1|1:0,180:180:99:6148,539,0:127	1|1:0,105:105:99:3636,316,0:127
1	247695756	.	T	C	24701.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6697472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6697472" target="_blank">rs6697472</a>;ExAC.Info.AC=125769;ExAC.Info.AN=126704;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=871;ExAC.Info.AC_Hom=62446;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr20Ala/c.58A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366487;SAVANT_GENE=OR2C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2C3" target="_blank">OR2C3</a>;SAVANT_INFO=-/3.7kb/2/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.58A>G_p.Thr20Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2C3+c.58A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247695756">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:3677,336,0:127	1|1:0,125:125:99:4367,376,0:127	1|1:0,79:79:99:2791,237,0:127
1	247702118	.	C	T	1452.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2103336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2103336" target="_blank">rs2103336</a>;ExAC.Info.AC=3649;ExAC.Info.AN=17750;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=2086;ExAC.Info.AC_Hom=398;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GCSAML+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247702118">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,291,3304:127	0|0:91,0:91:99:0,273,3096:127	0|1:43,28:71:99:745,0,1261:127
1	247712427	.	G	T	100.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=67;snpeff.Amino_Acid_Change=c.-67G>T;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366488;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366488;SAVANT_GENE=C1orf150;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf150" target="_blank">C1orf150</a>;SAVANT_INFO=+/28.6kb/5/3.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-67G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf150+c.-67G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247712427">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1763:68	0|1:49,7:56:69:69,0,1525:68	0|0:36,0:36:99:0,108,1310:68
1	247726822	.	CTTTT	C	11568.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=363;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs142922665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142922665" target="_blank">rs142922665</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.90-69_90-66delTTTT;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366488;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.90_93delTTTT;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366488;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.90_93delTTTT;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366488;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.90_93delTTTT;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GCSAML" target="_blank">GCSAML</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366488;SAVANT_GENE=C1orf150;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf150" target="_blank">C1orf150</a>;SAVANT_INFO=+/28.6kb/5/3.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.90-66_90-63delTTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf150+c.90-66_90-63delTTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247726822">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,61:105:99:1834,0,2355:127	0/1:71,64:135:99:1892,0,3873:127	0/1:68,55:123:99:1553,0,3605:127
1	247729206	.	CT	C	230.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=28;MQ=69.71;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs367904043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=367904043" target="_blank">rs367904043</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.272delA;snpeff.Gene_Name=RP11-978I15.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000435333;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.140-26delT;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140delT;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366488;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140delT;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366488;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.140delT;snpeff.Amino_Acid_length=135;snpeff.Gene_Name=GCSAML;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366488;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000366488;SAVANT_GENE=C1orf150;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1orf150" target="_blank">C1orf150</a>;SAVANT_INFO=+/28.6kb/5/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.140-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1orf150+c.140-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247729206">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,4:11:58:58,0,134:35	0/1:5,4:9:50:50,0,82:35	0/1:5,3:8:36:36,0,94:35
1	247751731	.	C	G	8831.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=369;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12737801;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12737801" target="_blank">rs12737801</a>;ExAC.Info.AC=14913;ExAC.Info.AN=126698;ExAC.Info.AF=0.118;ExAC.Info.AC_Het=12825;ExAC.Info.AC_Hom=1040;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.226-22478G>C;snpeff.Gene_Name=RP11-978I15.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000435333;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.70C>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Gct;snpeff.Amino_Acid_Change=p.Pro24Ala/c.70C>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320065;SAVANT_GENE=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G2" target="_blank">OR2G2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.70C>G_p.Pro24Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2G2+c.70C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247751731">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,56:111:99:1584,0,1628:127	1|0:65,66:131:99:2036,0,2084:127	0|0:127,0:127:99:0,381,4545:127
1	247752019	.	G	C	13725.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1151687;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1151687" target="_blank">rs1151687</a>;cosmic68.Histology_subtype=secretory;ExAC.Info.AC=85938;ExAC.Info.AN=126702;ExAC.Info.AF=0.678;ExAC.Info.AC_Het=25158;ExAC.Info.AC_Hom=30376;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.226-22766C>G;snpeff.Gene_Name=RP11-978I15.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000435333;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358G>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358G>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ctg;snpeff.Amino_Acid_Change=p.Val120Leu/c.358G>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320065;SAVANT_GENE=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G2" target="_blank">OR2G2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.358G>C_p.Val120Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2G2+c.358G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247752019">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2598,213,0:127	1|0:50,47:97:99:1436,0,1610:127	1|0:36,34:70:99:1062,0,1092:127
1	247752161	.	T	C	8774.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10925085;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10925085" target="_blank">rs10925085</a>;ExAC.Info.AC=46033;ExAC.Info.AN=126702;ExAC.Info.AF=0.363;ExAC.Info.AC_Het=28062;ExAC.Info.AC_Hom=8983;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.226-22908A>G;snpeff.Gene_Name=RP11-978I15.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000435333;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500T>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500T>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu167Pro/c.500T>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320065;SAVANT_GENE=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G2" target="_blank">OR2G2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.500T>C_p.Leu167Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2G2+c.500T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247752161">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,28:60:99:777,0,1055:127	0/1:54,60:114:99:1788,0,1678:127	0/1:22,35:57:99:1030,0,718:127
1	247752367	.	A	G	8467.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs869111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=869111" target="_blank">rs869111</a>;ExAC.Info.AC=57784;ExAC.Info.AN=126702;ExAC.Info.AF=0.456;ExAC.Info.AC_Het=30405;ExAC.Info.AC_Hom=13675;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.226-23114T>C;snpeff.Gene_Name=RP11-978I15.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000435333;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg236Gly/c.706A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320065;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320065;SAVANT_GENE=OR2G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G2" target="_blank">OR2G2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.706A>G_p.Arg236Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2G2+c.706A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247752367">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,49:96:99:1496,0,1415:127	1|0:74,67:141:99:1947,0,2326:127	0|0:128,0:128:99:0,385,4726:127
1	247769592	.	C	T	8761.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1151683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1151683" target="_blank">rs1151683</a>;ExAC.Info.AC=35018;ExAC.Info.AN=126698;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=24555;ExAC.Info.AC_Hom=5193;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.225+29565G>A;snpeff.Gene_Name=RP11-978I15.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000435333;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.705C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR2G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320002;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His235His/c.705C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR2G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-978I1510" target="_blank">RP11-978I1510</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320002;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320002;SAVANT_GENE=OR2G3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G3" target="_blank">OR2G3</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.705C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2G3+c.705C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247769592">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,54:122:99:1414,0,2191:127	0|0:157,1:158:99:0,438,6040:127	1|0:62,63:125:99:1822,0,2029:127
1	247835674	.	G	A	26668.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=563;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28446289;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28446289" target="_blank">rs28446289</a>;ExAC.Info.AC=42778;ExAC.Info.AN=126704;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=27899;ExAC.Info.AC_Hom=7416;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.681+31943G>A;snpeff.Gene_Name=RP11-634B7.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000449298;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.670G>A;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg224Cys/c.670C>T;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359688;SAVANT_GENE=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR13G1" target="_blank">OR13G1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.670C>T_p.Arg224Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR13G1+c.670C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247835674">View</a>	GT:AD:DP:GQ:PL:TP	0|1:100,80:180:99:2319,0,3013:127	1|1:0,200:200:99:7329,601,0:127	0|1:95,88:183:99:2761,0,2977:127
1	247835908	.	T	A	33955.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=697;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28556931;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28556931" target="_blank">rs28556931</a>;ExAC.Info.AC=42796;ExAC.Info.AN=126702;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=27901;ExAC.Info.AC_Hom=7412;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.681+32177T>A;snpeff.Gene_Name=RP11-634B7.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000449298;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.436T>A;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.436T>A;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Ttg;snpeff.Amino_Acid_Change=p.Met146Leu/c.436A>T;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359688;SAVANT_GENE=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR13G1" target="_blank">OR13G1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.436A>T_p.Met146Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR13G1+c.436A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247835908">View</a>	GT:AD:DP:GQ:PL:TP	0|1:105,103:208:99:2940,0,2940:127	1|1:0,268:268:99:9583,805,0:127	0|1:115,106:221:99:3180,0,3424:127
1	247835950	.	T	C	15473.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=692;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1151640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1151640" target="_blank">rs1151640</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Myocardial_infarction|_association_with;hgmd_2014.2.PubMed=16175505;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16175505" target="_blank">16175505</a>;ExAC.Info.AC=56368;ExAC.Info.AN=126698;ExAC.Info.AF=0.445;ExAC.Info.AC_Het=29104;ExAC.Info.AC_Hom=13584;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.681+32219T>C;snpeff.Gene_Name=RP11-634B7.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000449298;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394T>C;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394T>C;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile132Val/c.394A>G;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359688;SAVANT_GENE=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR13G1" target="_blank">OR13G1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.394A>G_p.Ile132Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR13G1+c.394A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247835950">View</a>	GT:AD:DP:GQ:PL:TP	1|0:102,109:211:99:3311,0,2586:127	0|0:264,0:264:99:0,793,8931:127	1|0:114,103:217:99:3036,0,3302:127
1	247836008	.	G	A	26905.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=633;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs28555391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28555391" target="_blank">rs28555391</a>;ExAC.Info.AC=42713;ExAC.Info.AN=126690;ExAC.Info.AF=0.337;ExAC.Info.AC_Het=27881;ExAC.Info.AC_Hom=7336;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.681+32277G>A;snpeff.Gene_Name=RP11-634B7.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000449298;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.336G>A;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.336G>A;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe112Phe/c.336C>T;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359688;SAVANT_GENE=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR13G1" target="_blank">OR13G1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.336C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR13G1+c.336C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247836008">View</a>	GT:AD:DP:GQ:PL:TP	0|1:107,78:185:99:1954,0,3112:127	1|1:0,234:234:99:7807,703,0:127	0|1:114,100:214:99:2705,0,3494:127
1	247836207	.	T	A	19152.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28711149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28711149" target="_blank">rs28711149</a>;ExAC.Info.AC=42747;ExAC.Info.AN=126700;ExAC.Info.AF=0.337;ExAC.Info.AC_Het=27882;ExAC.Info.AC_Hom=7403;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.681+32476T>A;snpeff.Gene_Name=RP11-634B7.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000449298;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.137T>A;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aTa;snpeff.Amino_Acid_Change=p.Lys46Ile/c.137A>T;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B74" target="_blank">RP11-634B74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359688;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359688;SAVANT_GENE=OR13G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR13G1" target="_blank">OR13G1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.137A>T_p.Lys46Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR13G1+c.137A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247836207">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,62:121:99:1682,0,1597:127	1|1:0,159:159:99:5472,478,0:127	0|1:50,55:105:99:1644,0,1600:127
1	247875608	.	C	G	5652.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6587382;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587382" target="_blank">rs6587382</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=33218;ExAC.Info.AN=126700;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=23322;ExAC.Info.AC_Hom=4880;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-634B7.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B75" target="_blank">RP11-634B75</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.682-33897C>G;snpeff.Gene_Name=RP11-634B7.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B75" target="_blank">RP11-634B75</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000449298;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450C>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR6F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B75" target="_blank">RP11-634B75</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302084;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450C>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR6F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B75" target="_blank">RP11-634B75</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302084;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtC;snpeff.Amino_Acid_Change=p.Val150Val/c.450G>C;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR6F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B75" target="_blank">RP11-634B75</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302084;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302084;SAVANT_GENE=OR6F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6F1" target="_blank">OR6F1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.450G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6F1+c.450G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247875608">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,30:93:99:794,0,1924:127	0|0:120,0:120:99:0,361,4375:127	1|0:41,40:81:99:1177,0,1248:127
1	247886949	.	T	C	6231.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs36075193;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36075193" target="_blank">rs36075193</a>;ExAC.Info.AC=2310;ExAC.Info.AN=47546;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=1429;ExAC.Info.AC_Hom=94;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.111+4A>G;snpeff.Gene_Name=RP11-634B7.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B75" target="_blank">RP11-634B75</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000426444;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.682-22556T>C;snpeff.Gene_Name=RP11-634B7.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B75" target="_blank">RP11-634B75</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000449298;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR14A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B75" target="_blank">RP11-634B75</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR14A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B75" target="_blank">RP11-634B75</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile133Val/c.397A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR14A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-634B75" target="_blank">RP11-634B75</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366485;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366485;SAVANT_GENE=OR14A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14A2" target="_blank">OR14A2</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.397A>G_p.Ile133Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14A2+c.397A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247886949">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,29:67:99:824,0,1167:127	1|0:54,56:110:99:1704,0,1592:127	0|0:99,0:99:99:0,298,3491:127
1	247921100	.	T	G	22758.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1552812;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1552812" target="_blank">rs1552812</a>;ExAC.Info.AC=106216;ExAC.Info.AN=125560;ExAC.Info.AF=0.846;ExAC.Info.AC_Het=14259;ExAC.Info.AC_Hom=45647;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1C1" target="_blank">OR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408896;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly203Gly/c.609A>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1C1" target="_blank">OR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408896;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000408896;SAVANT_GENE=OR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1C1" target="_blank">OR1C1</a>;SAVANT_INFO=-/1.3kb/1/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.609A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1C1+c.609A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247921100">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2633,225,0:127	1|1:0,105:105:99:3621,316,0:127	1|1:0,98:98:99:3386,294,0:127
1	247921352	.	C	T	25789.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1552813;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1552813" target="_blank">rs1552813</a>;ExAC.Info.AC=115307;ExAC.Info.AN=125380;ExAC.Info.AF=0.920;ExAC.Info.AC_Het=8107;ExAC.Info.AC_Hom=53450;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1C1" target="_blank">OR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408896;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1C1" target="_blank">OR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408896;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala119Ala/c.357G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1C1" target="_blank">OR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408896;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000408896;SAVANT_GENE=OR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1C1" target="_blank">OR1C1</a>;SAVANT_INFO=-/1.3kb/1/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.357G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1C1+c.357G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247921352">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3242,291,0:127	1|1:0,115:115:99:3924,346,0:127	1|1:0,103:103:99:3600,310,0:127
1	247921717	.	C	A	8121.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10888359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888359" target="_blank">rs10888359</a>;ExAC.Info.AC=114493;ExAC.Info.AN=124872;ExAC.Info.AF=0.917;ExAC.Info.AC_Het=7168;ExAC.Info.AC_Hom=46149;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=9;snpeff.Amino_Acid_Change=c.-9G>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1C1" target="_blank">OR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408896;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000408896;SAVANT_GENE=OR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1C1" target="_blank">OR1C1</a>;SAVANT_INFO=-/1.3kb/1/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-9G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1C1+c.-9G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247921717">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1283,114,0:101	1|1:0,39:39:99:1333,117,0:101	1|1:0,34:34:99:1205,102,0:101
1	247941192	.	C	T	9544.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6694222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6694222" target="_blank">rs6694222</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6694222" target="_blank">rs6694222</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247941192">View</a>	GT:AD:DP:GQ:PL:TP	0/1:54,50:104:99:1372,0,1604:127	0/1:79,82:161:99:2359,0,2419:127	0/1:45,47:92:99:1287,0,1426:127
1	247978079	.	T	A	4534.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72777548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72777548" target="_blank">rs72777548</a>;ExAC.Info.AC=8190;ExAC.Info.AN=126232;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=6882;ExAC.Info.AC_Hom=384;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72777548" target="_blank">rs72777548</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247978079">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,39:68:99:1059,0,1209:127	1|0:38,42:80:99:1211,0,1445:127	0|0:59,0:59:99:0,178,2647:127
1	247978087	.	G	A	9227.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10888248;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888248" target="_blank">rs10888248</a>;ExAC.Info.AC=114468;ExAC.Info.AN=126154;ExAC.Info.AF=0.907;ExAC.Info.AC_Het=8343;ExAC.Info.AC_Hom=48924;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888248" target="_blank">rs10888248</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247978087">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,33:75:99:904,0,1600:127	0|1:47,40:87:99:1109,0,1820:127	1|1:0,61:61:99:2197,183,0:127
1	247978319	.	A	G	26542.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6695283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6695283" target="_blank">rs6695283</a>;ExAC.Info.AC=126656;ExAC.Info.AN=126698;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=42;ExAC.Info.AC_Hom=63240;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.713A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR14A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14A16" target="_blank">OR14A16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile238Thr/c.713T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR14A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14A16" target="_blank">OR14A16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357627;SAVANT_GENE=OR14A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14A16" target="_blank">OR14A16</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.713T>C_p.Ile238Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14A16+c.713T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247978319">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,105:105:99:3915,316,0:127	1|1:0,120:120:99:4446,361,0:127	1|1:0,88:88:99:3372,265,0:127
1	247978541	.	AAGG	A	24843.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs35979231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35979231" target="_blank">rs35979231</a>;ExAC.Info.AC=106873;ExAC.Info.AN=126704;ExAC.Info.AF=0.843;ExAC.Info.AC_Het=13041;ExAC.Info.AC_Hom=46866;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.488_490delAGG;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR14A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14A16" target="_blank">OR14A16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.488_490delAGG;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR14A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14A16" target="_blank">OR14A16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=disruptive_inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=tcctta/tta;snpeff.Amino_Acid_Change=p.Ser163_Leu164del/c.488_490delCCT;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR14A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14A16" target="_blank">OR14A16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000357627;SAVANT_GENE=OR14A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14A16" target="_blank">OR14A16</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.488_490delCCT_p.Ser163del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14A16+c.488_490delCCT+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247978541">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,67:128:99:2553,0,2307:127	0|1:79,52:131:99:1945,0,3151:127	1|1:0,136:136:99:6067,410,0:127
1	247978996	.	A	G	10290.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10888249;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888249" target="_blank">rs10888249</a>;ExAC.Info.AC=115444;ExAC.Info.AN=126518;ExAC.Info.AF=0.912;ExAC.Info.AC_Het=8615;ExAC.Info.AC_Hom=52732;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.36A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR14A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14A16" target="_blank">OR14A16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu12Leu/c.36T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR14A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14A16" target="_blank">OR14A16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357627;SAVANT_GENE=OR14A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14A16" target="_blank">OR14A16</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.36T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14A16+c.36T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:247978996">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,30:77:99:858,0,1292:127	0|1:51,33:84:99:986,0,1393:127	1|1:0,72:72:99:2787,217,0:127
1	248004296	.	A	G	4584.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6681483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6681483" target="_blank">rs6681483</a>;ExAC.Info.AC=13682;ExAC.Info.AN=126702;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=11447;ExAC.Info.AC_Hom=1116;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.903A>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val301Val/c.903T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355784;SAVANT_GENE=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.903T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR11L1+c.903T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248004296">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,27:61:99:866,0,910:127	1|0:28,28:56:99:986,0,751:127	0|0:46,0:46:99:0,138,1571:127
1	248004389	.	G	A	3548.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72761012;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72761012" target="_blank">rs72761012</a>;ExAC.Info.AC=7;ExAC.Info.AN=126704;ExAC.Info.AF=5.525e-05;ExAC.Info.AC_Het=47;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.810G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile270Ile/c.810C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355784;SAVANT_GENE=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.810C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR11L1+c.810C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248004389">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,376,4491:127	0|1:64,69:133:99:1793,0,2089:127	0|0:96,0:96:99:0,288,3386:127
1	248004614	.	G	A	21357.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=466;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs6667389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6667389" target="_blank">rs6667389</a>;ExAC.Info.AC=112982;ExAC.Info.AN=126704;ExAC.Info.AF=0.892;ExAC.Info.AC_Het=11429;ExAC.Info.AC_Hom=50763;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.585G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr195Thr/c.585C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355784;SAVANT_GENE=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.585C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR11L1+c.585C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248004614">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,82:152:99:2417,0,1906:127	0|1:95,84:179:99:2376,0,2584:127	1|1:0,135:135:99:4746,405,0:127
1	248004687	.	C	G	18743.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10888255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888255" target="_blank">rs10888255</a>;ExAC.Info.AC=113834;ExAC.Info.AN=126704;ExAC.Info.AF=0.898;ExAC.Info.AC_Het=11087;ExAC.Info.AC_Hom=51354;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512C>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512C>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cCc;snpeff.Amino_Acid_Change=p.Arg171Pro/c.512G>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355784;SAVANT_GENE=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.512G>C_p.Arg171Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR11L1+c.512G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248004687">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,71:122:99:2393,0,1539:127	0|1:72,58:130:99:1913,0,2367:127	1|1:0,115:115:99:4434,346,0:127
1	248004775	.	C	T	19538.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=461;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10888256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888256" target="_blank">rs10888256</a>;ExAC.Info.AC=114462;ExAC.Info.AN=126704;ExAC.Info.AF=0.903;ExAC.Info.AC_Het=10740;ExAC.Info.AC_Hom=51809;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.424C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.424C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala142Thr/c.424G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355784;SAVANT_GENE=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.424G>A_p.Ala142Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR11L1+c.424G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248004775">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,80:141:99:2196,0,1797:127	0|1:98,80:178:99:2172,0,2988:127	1|1:0,142:142:99:4805,426,0:127
1	248004848	.	G	C	14171.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4607924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4607924" target="_blank">rs4607924</a>;ExAC.Info.AC=114398;ExAC.Info.AN=126694;ExAC.Info.AF=0.903;ExAC.Info.AC_Het=10733;ExAC.Info.AC_Hom=51631;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351G>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351G>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttC/ttG;snpeff.Amino_Acid_Change=p.Phe117Leu/c.351C>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355784;SAVANT_GENE=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.351C>G_p.Phe117Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR11L1+c.351C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248004848">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,39:71:99:1271,0,944:127	0|1:60,51:111:99:1605,0,1941:127	1|1:0,90:90:99:3440,271,0:127
1	248004877	.	C	T	14500.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10888257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888257" target="_blank">rs10888257</a>;ExAC.Info.AC=113757;ExAC.Info.AN=126698;ExAC.Info.AF=0.898;ExAC.Info.AC_Het=11101;ExAC.Info.AC_Hom=51130;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.322C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.322C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly108Ser/c.322G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355784;SAVANT_GENE=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.322G>A_p.Gly108Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR11L1+c.322G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248004877">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,39:69:99:1515,0,1189:127	0|1:54,46:100:99:1803,0,2084:127	1|1:0,70:70:99:3158,214,0:127
1	248004884	.	T	C	14652.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1339845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1339845" target="_blank">rs1339845</a>;ExAC.Info.AC=122784;ExAC.Info.AN=126696;ExAC.Info.AF=0.969;ExAC.Info.AC_Het=3703;ExAC.Info.AC_Hom=59359;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val105Val/c.315A>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355784;SAVANT_GENE=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.315A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR11L1+c.315A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248004884">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,37:67:99:1431,0,1177:127	0|1:52,50:102:99:1931,0,2084:127	1|1:0,70:70:99:3212,217,0:127
1	248005213	.	G	C	7007.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7522811;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7522811" target="_blank">rs7522811</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.-15C>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355784;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355784;SAVANT_GENE=OR11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR11L1" target="_blank">OR11L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-15C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR11L1+c.-15C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248005213">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,29:66:99:858,0,1072:116	0|1:35,30:65:99:938,0,1035:116	1|1:0,39:39:99:1480,117,0:116
1	248020526	.	C	A	1832.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=49;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs142390236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142390236" target="_blank">rs142390236</a>;ExAC.Info.AC=738;ExAC.Info.AN=69896;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=53;ExAC.Info.AC_Hom=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=23;snpeff.Amino_Acid_Change=c.-23C>A;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM58" target="_blank">TRIM58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366481;SAVANT_GENE=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM58" target="_blank">TRIM58</a>;SAVANT_INFO=+/21.0kb/6/3.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-23C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM58+c.-23C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248020526">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,8:16:99:222,0,264:127	0/1:13,7:20:99:202,0,432:127	0/1:7,6:13:99:199,0,214:127
1	248020556	.	G	C	6667.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11204523;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11204523" target="_blank">rs11204523</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=56782;ExAC.Info.AN=88682;ExAC.Info.AF=0.640;ExAC.Info.AC_Het=1536;ExAC.Info.AC_Hom=2186;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGg/tCg;snpeff.Amino_Acid_Change=p.Trp3Ser/c.8G>C;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM58" target="_blank">TRIM58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366481;SAVANT_GENE=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM58" target="_blank">TRIM58</a>;SAVANT_INFO=+/21.0kb/6/3.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.8G>C_p.Trp3Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM58+c.8G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248020556">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1119,96,0:56	1|0:21,16:37:99:475,0,691:56	1|1:0,19:19:57:710,57,0:56
1	248023966	.	C	T	6330.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3737277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737277" target="_blank">rs3737277</a>;ExAC.Info.AC=34838;ExAC.Info.AN=126704;ExAC.Info.AF=0.275;ExAC.Info.AC_Het=24952;ExAC.Info.AC_Hom=4923;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp156Asp/c.468C>T;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM58" target="_blank">TRIM58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366481;SAVANT_GENE=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM58" target="_blank">TRIM58</a>;SAVANT_INFO=+/21.0kb/6/3.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.468C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM58+c.468C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248023966">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2585:127	0|1:45,57:102:99:1671,0,1230:127	0|1:44,48:92:99:1514,0,1245:127
1	248039294	.	G	A	15407.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=506;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1339847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1339847" target="_blank">rs1339847</a>;ExAC.Info.AC=14984;ExAC.Info.AN=126704;ExAC.Info.AF=0.118;ExAC.Info.AC_Het=12938;ExAC.Info.AC_Hom=1020;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=19595;snpeff.Amino_Acid_Change=c.-76G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537741;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964G>A;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964G>A;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val322Ile/c.964G>A;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537741:ENST00000366481;SAVANT_GENE=OR2W3:TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3:TRIM58" target="_blank">OR2W3:TRIM58</a>;SAVANT_INFO=+/29.2kb/3/1.8kb:+/21.0kb/6/3.2kb;SAVANT_LOC=5UTR:Ex6;SAVANT_HGVS=c.-19595G>A:c.964G>A_p.Val322Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W3:TRIM58+c.-19595G>A:c.964G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248039294">View</a>	GT:AD:DP:GQ:PL:TP	0/1:83,78:161:99:1890,0,2441:127	0/1:93,100:193:99:2685,0,2928:127	0/1:79,73:152:99:1945,0,2276:127
1	248039451	.	C	T	9206.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3811444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811444" target="_blank">rs3811444</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Red_blood_cell_count|_association_with;hgmd_2014.2.PubMed=23222517;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23222517" target="_blank">23222517</a>;ExAC.Info.AC=38699;ExAC.Info.AN=126700;ExAC.Info.AF=0.305;ExAC.Info.AC_Het=25974;ExAC.Info.AC_Hom=6358;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-31+112C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537741;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1121C>T;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1121C>T;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr374Met/c.1121C>T;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537741:ENST00000366481;SAVANT_GENE=OR2W3:TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3:TRIM58" target="_blank">OR2W3:TRIM58</a>;SAVANT_INFO=+/29.2kb/3/1.8kb:+/21.0kb/6/3.2kb;SAVANT_LOC=5UTR:Ex6;SAVANT_HGVS=c.-19438C>T:c.1121C>T_p.Thr374Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W3:TRIM58+c.-19438C>T:c.1121C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248039451">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,55:107:99:1569,0,1650:127	1|0:80,74:154:99:2267,0,2367:127	0|0:99,0:99:99:0,298,3577:127
1	248039713	.	A	G	31863.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3811445;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3811445" target="_blank">rs3811445</a>;ExAC.Info.AC=77042;ExAC.Info.AN=126704;ExAC.Info.AF=0.608;ExAC.Info.AC_Het=29915;ExAC.Info.AC_Hom=23559;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-31+374A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537741;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1383A>G;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1383A>G;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr461Thr/c.1383A>G;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537741:ENST00000366481;SAVANT_GENE=OR2W3:TRIM58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3:TRIM58" target="_blank">OR2W3:TRIM58</a>;SAVANT_INFO=+/29.2kb/3/1.8kb:+/21.0kb/6/3.2kb;SAVANT_LOC=5UTR:Ex6;SAVANT_HGVS=c.-19176A>G:c.1383A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W3:TRIM58+c.-19176A>G:c.1383A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248039713">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,102:102:99:3490,306,0:127	1|1:0,175:175:99:5971,525,0:127	1|1:0,126:126:99:4259,378,0:127
1	248058845	.	A	C	28088.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4500353;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4500353" target="_blank">rs4500353</a>;ExAC.Info.AC=121661;ExAC.Info.AN=125512;ExAC.Info.AF=0.969;ExAC.Info.AC_Het=2779;ExAC.Info.AC_Hom=46777;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-30-14A>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537741;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537741;SAVANT_GENE=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;SAVANT_INFO=+/29.2kb/3/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W3+c.-44A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248058845">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:3349,253,0:127	1|1:0,126:126:99:4739,378,0:127	1|1:0,110:110:99:4213,330,0:127
1	248058879	.	A	T	39054.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=476;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6587387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587387" target="_blank">rs6587387</a>;ExAC.Info.AC=122924;ExAC.Info.AN=126634;ExAC.Info.AF=0.971;ExAC.Info.AC_Het=3453;ExAC.Info.AC_Hom=58271;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.-10A>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537741;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537741;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537741;SAVANT_GENE=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;SAVANT_INFO=+/29.2kb/3/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-10A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W3+c.-10A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248058879">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4635,400,0:127	1|1:0,190:190:99:6537,570,0:127	1|1:0,154:154:99:5513,462,0:127
1	248059423	.	C	T	6875.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10888267;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10888267" target="_blank">rs10888267</a>;ExAC.Info.AC=60795;ExAC.Info.AN=126702;ExAC.Info.AF=0.480;ExAC.Info.AC_Het=30123;ExAC.Info.AC_Hom=15330;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg179Cys/c.535C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537741;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537741;SAVANT_GENE=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;SAVANT_INFO=+/29.2kb/3/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.535C>T_p.Arg179Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W3+c.535C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248059423">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,26:60:99:729,0,1017:127	1|0:50,64:114:99:1805,0,1502:127	0|0:83,0:83:99:0,249,2823:127
1	248059456	.	G	A	5200.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12135078;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12135078" target="_blank">rs12135078</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=58754;ExAC.Info.AN=126700;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=29259;ExAC.Info.AC_Hom=14737;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val190Ile/c.568G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537741;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537741;SAVANT_GENE=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;SAVANT_INFO=+/29.2kb/3/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.568G>A_p.Val190Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W3+c.568G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248059456">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,33:58:99:1036,0,717:127	0|0:103,0:103:99:0,316,4190:127	1|0:37,31:68:99:880,0,1394:127
1	248059476	.	A	C	15450.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=240;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12139390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12139390" target="_blank">rs12139390</a>;ExAC.Info.AC=90813;ExAC.Info.AN=126702;ExAC.Info.AF=0.717;ExAC.Info.AC_Het=22573;ExAC.Info.AC_Hom=34109;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaA/gaC;snpeff.Amino_Acid_Change=p.Glu196Asp/c.588A>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537741;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537741;SAVANT_GENE=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;SAVANT_INFO=+/29.2kb/3/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.588A>C_p.Glu196Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W3+c.588A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248059476">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2530,190,0:127	1|0:48,65:113:99:1950,0,1377:127	1|0:33,33:66:99:1236,0,1034:127
1	248059703	.	T	A	20385.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11204545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11204545" target="_blank">rs11204545</a>;ExAC.Info.AC=73093;ExAC.Info.AN=126704;ExAC.Info.AF=0.577;ExAC.Info.AC_Het=29339;ExAC.Info.AC_Hom=21862;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aAg;snpeff.Amino_Acid_Change=p.Met272Lys/c.815T>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537741;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537741;SAVANT_GENE=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;SAVANT_INFO=+/29.2kb/3/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.815T>A_p.Met272Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W3+c.815T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248059703">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:3625,247,0:127	1|0:67,56:123:99:2170,0,3421:127	1|0:54,49:103:99:1815,0,2634:127
1	248059712	.	T	C	19393.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11204546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11204546" target="_blank">rs11204546</a>;ExAC.Info.AC=73749;ExAC.Info.AN=126704;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=29144;ExAC.Info.AC_Hom=22287;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met275Thr/c.824T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537741;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537741;SAVANT_GENE=OR2W3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2W3" target="_blank">OR2W3</a>;SAVANT_INFO=+/29.2kb/3/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.824T>C_p.Met275Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2W3+c.824T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248059712">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:3422,232,0:127	1|0:64,57:121:99:2148,0,3332:127	1|0:53,41:94:99:1594,0,2731:127
1	248112627	.	T	C	35498.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=598;MQ=66.72;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4925787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4925787" target="_blank">rs4925787</a>;ExAC.Info.AC=67173;ExAC.Info.AN=126696;ExAC.Info.AF=0.530;ExAC.Info.AC_Het=33605;ExAC.Info.AC_Hom=16756;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.468T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.468T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys156Cys/c.468T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357191:ENST00000366478;SAVANT_GENE=OR2L8:OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L8:OR2L13" target="_blank">OR2L8:OR2L13</a>;SAVANT_INFO=+/0.9kb/1/0.9kb:+/163.7kb/3/1.9kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.468T>C_p.=:c.-150051T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L8:OR2L13+c.468T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248112627">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,187:189:99:6419,519,0:127	1|1:0,173:173:99:6140,520,0:127	1|0:131,105:236:99:2799,0,3833:127
1	248112745	.	G	T	24290.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=422;MQ=61.77;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4925788;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4925788" target="_blank">rs4925788</a>;ExAC.Info.AC=104766;ExAC.Info.AN=126514;ExAC.Info.AF=0.828;ExAC.Info.AC_Het=16971;ExAC.Info.AC_Hom=41185;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586G>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Tgc;snpeff.Amino_Acid_Change=p.Gly196Cys/c.586G>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357191:ENST00000366478;SAVANT_GENE=OR2L8:OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L8:OR2L13" target="_blank">OR2L8:OR2L13</a>;SAVANT_INFO=+/0.9kb/1/0.9kb:+/163.7kb/3/1.9kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.586G>T_p.Gly196Cys:c.-149933G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L8:OR2L13+c.586G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248112745">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4314,373,0:127	1|1:1,142:143:99:5081,420,0:127	1|0:103,52:155:99:1397,0,3215:127
1	248112762	.	T	C	32013.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=428;MQ=62.33;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4925789;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4925789" target="_blank">rs4925789</a>;ExAC.Info.AC=100694;ExAC.Info.AN=126616;ExAC.Info.AF=0.795;ExAC.Info.AC_Het=20827;ExAC.Info.AC_Hom=37791;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.603T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser201Ser/c.603T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357191:ENST00000366478;SAVANT_GENE=OR2L8:OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L8:OR2L13" target="_blank">OR2L8:OR2L13</a>;SAVANT_INFO=+/0.9kb/1/0.9kb:+/163.7kb/3/1.9kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.603T>C_p.=:c.-149916T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L8:OR2L13+c.603T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248112762">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:5774,388,0:127	1|1:0,139:139:99:6382,427,0:127	1|0:108,56:164:99:2049,0,4672:127
1	248112763	.	G	A	32467.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=433;MQ=62.56;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4925790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4925790" target="_blank">rs4925790</a>;ExAC.Info.AC=101170;ExAC.Info.AN=126616;ExAC.Info.AF=0.799;ExAC.Info.AC_Het=20978;ExAC.Info.AC_Hom=38068;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.604G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala202Thr/c.604G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357191:ENST00000366478;SAVANT_GENE=OR2L8:OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L8:OR2L13" target="_blank">OR2L8:OR2L13</a>;SAVANT_INFO=+/0.9kb/1/0.9kb:+/163.7kb/3/1.9kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.604G>A_p.Ala202Thr:c.-149915G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L8:OR2L13+c.604G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248112763">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,127:127:99:5774,388,0:127	1|1:0,141:141:99:6549,442,0:127	1|0:109,56:165:99:2040,0,4773:127
1	248112771	.	C	T	34195.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=465;MQ=63.14;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4925791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4925791" target="_blank">rs4925791</a>;ExAC.Info.AC=100694;ExAC.Info.AN=126606;ExAC.Info.AF=0.795;ExAC.Info.AC_Het=20905;ExAC.Info.AC_Hom=38962;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile204Ile/c.612C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357191:ENST00000366478;SAVANT_GENE=OR2L8:OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L8:OR2L13" target="_blank">OR2L8:OR2L13</a>;SAVANT_INFO=+/0.9kb/1/0.9kb:+/163.7kb/3/1.9kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.612C>T_p.=:c.-149907C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L8:OR2L13+c.612C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248112771">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:6097,418,0:127	1|1:0,158:158:99:6915,476,0:127	1|0:108,61:169:99:2147,0,4566:127
1	248112809	.	A	G	37685.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=590;MQ=66.31;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4925583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4925583" target="_blank">rs4925583</a>;ExAC.Info.AC=109457;ExAC.Info.AN=126696;ExAC.Info.AF=0.864;ExAC.Info.AC_Het=12474;ExAC.Info.AC_Hom=48360;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.650A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAt/tGt;snpeff.Amino_Acid_Change=p.Tyr217Cys/c.650A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357191:ENST00000366478;SAVANT_GENE=OR2L8:OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L8:OR2L13" target="_blank">OR2L8:OR2L13</a>;SAVANT_INFO=+/0.9kb/1/0.9kb:+/163.7kb/3/1.9kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.650A>G_p.Tyr217Cys:c.-149869A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L8:OR2L13+c.650A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248112809">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,175:175:99:6278,526,0:127	1|1:0,213:213:99:7536,640,0:127	1|0:116,86:202:99:2595,0,3171:127
1	248112836	.	A	G	38006.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=631;MQ=67.78;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4925792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4925792" target="_blank">rs4925792</a>;ExAC.Info.AC=113686;ExAC.Info.AN=126696;ExAC.Info.AF=0.897;ExAC.Info.AC_Het=8530;ExAC.Info.AC_Hom=52435;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.677A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His226Arg/c.677A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357191:ENST00000366478;SAVANT_GENE=OR2L8:OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L8:OR2L13" target="_blank">OR2L8:OR2L13</a>;SAVANT_INFO=+/0.9kb/1/0.9kb:+/163.7kb/3/1.9kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.677A>G_p.His226Arg:c.-149842A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L8:OR2L13+c.677A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248112836">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,185:186:99:6213,531,0:127	1|1:0,222:222:99:7563,666,0:127	1|0:131,92:223:99:2645,0,3705:127
1	248129020	.	C	T	4730.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=592;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41308168;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41308168" target="_blank">rs41308168</a>;ExAC.Info.AC=2553;ExAC.Info.AN=126392;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=2303;ExAC.Info.AC_Hom=50;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387C>T;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR2AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366480;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387C>T;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR2AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366480;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu129Leu/c.387C>T;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR2AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366480;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366478:ENST00000366480;SAVANT_GENE=OR2L13:OR2AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13:OR2AK2" target="_blank">OR2L13:OR2AK2</a>;SAVANT_INFO=+/163.7kb/3/1.9kb:+/1.1kb/1/1.1kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-133658C>T:c.387C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L13:OR2AK2+c.-133658C>T:c.387C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248129020">View</a>	GT:AD:DP:GQ:PL:TP	0|0:170,0:170:99:0,510,5890:127	0|0:250,0:250:99:0,751,8809:127	0|1:81,91:172:99:2384,0,2458:127
1	248129240	.	G	A	25426.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=392;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4478844;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4478844" target="_blank">rs4478844</a>;ExAC.Info.AC=71462;ExAC.Info.AN=126648;ExAC.Info.AF=0.564;ExAC.Info.AC_Het=28607;ExAC.Info.AC_Hom=21033;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.607G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR2AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366480;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.607G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR2AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366480;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val203Met/c.607G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR2AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366480;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366478:ENST00000366480;SAVANT_GENE=OR2L13:OR2AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13:OR2AK2" target="_blank">OR2L13:OR2AK2</a>;SAVANT_INFO=+/163.7kb/3/1.9kb:+/1.1kb/1/1.1kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-133438G>A:c.607G>A_p.Val203Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L13:OR2AK2+c.-133438G>A:c.607G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248129240">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,121:123:99:4010,320,0:127	1|1:0,151:151:99:5303,454,0:127	1|0:60,58:118:99:1587,0,1789:127
1	248154493	.	T	C	315.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=269;MQ=69.95;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs201911921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201911921" target="_blank">rs201911921</a>;ExAC.Info.AC=7871;ExAC.Info.AN=126592;ExAC.Info.AF=0.062;ExAC.Info.AC_Het=6963;ExAC.Info.AC_Hom=241;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.925T>C;snpeff.Gene_Name=OR2L1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L1P" target="_blank">OR2L1P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422727;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L1P" target="_blank">OR2L1P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366478;SAVANT_GENE=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;SAVANT_INFO=+/163.7kb/3/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-108185T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L13+c.-108185T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248154493">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,2947:127	0|0:118,0:118:99:0,354,3859:127	0|1:55,9:64:99:177,0,1501:127
1	248154505	.	A	G	30.77	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=254;MQ=69.94;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs200140719;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200140719" target="_blank">rs200140719</a>;ExAC.Info.AC=6243;ExAC.Info.AN=126494;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5146;ExAC.Info.AC_Hom=118;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.937A>G;snpeff.Gene_Name=OR2L1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L1P" target="_blank">OR2L1P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422727;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L1P" target="_blank">OR2L1P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366478;SAVANT_GENE=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;SAVANT_INFO=+/163.7kb/3/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-108173A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L13+c.-108173A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248154505">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,2743:34	0|0:112,0:112:99:0,336,3695:34	0|1:51,5:56:34:34,0,1418:34
1	248202289	.	T	C	18021.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=810;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72763251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72763251" target="_blank">rs72763251</a>;ExAC.Info.AC=1203;ExAC.Info.AN=126702;ExAC.Info.AF=9.495e-03;ExAC.Info.AC_Het=1171;ExAC.Info.AC_Hom=18;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.720T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366479;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys240Cys/c.720T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366479;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366479:ENST00000366478;SAVANT_GENE=OR2L2:OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L2:OR2L13" target="_blank">OR2L2:OR2L13</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:+/163.7kb/3/1.9kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.720T>C_p.=:c.-60389T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L2:OR2L13+c.720T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248202289">View</a>	GT:AD:DP:GQ:PL:TP	0|1:135,124:259:99:3544,0,3409:127	1|0:150,139:289:99:4182,0,4062:127	0|0:262,0:262:99:0,786,8368:127
1	248202344	.	G	C	5878.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=728;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6658141;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6658141" target="_blank">rs6658141</a>;ExAC.Info.AC=24987;ExAC.Info.AN=126704;ExAC.Info.AF=0.197;ExAC.Info.AC_Het=16718;ExAC.Info.AC_Hom=4132;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775G>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366479;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Cta;snpeff.Amino_Acid_Change=p.Val259Leu/c.775G>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366479;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366479:ENST00000366478;SAVANT_GENE=OR2L2:OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L2:OR2L13" target="_blank">OR2L2:OR2L13</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:+/163.7kb/3/1.9kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.775G>C_p.Val259Leu:c.-60334G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L2:OR2L13+c.775G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248202344">View</a>	GT:AD:DP:GQ:PL:TP	0|0:241,0:241:99:0,723,8367:127	0|0:266,0:266:99:0,799,9640:127	0|1:122,99:221:99:2958,0,3640:127
1	248202474	.	A	G	1320.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=516;MQ=69.59;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs144950416;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144950416" target="_blank">rs144950416</a>;ExAC.Info.AC=4448;ExAC.Info.AN=126690;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=4093;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.905A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366479;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln302Arg/c.905A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366479;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366479:ENST00000366478;SAVANT_GENE=OR2L2:OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L2:OR2L13" target="_blank">OR2L2:OR2L13</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:+/163.7kb/3/1.9kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.905A>G_p.Gln302Arg:c.-60204A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L2:OR2L13+c.905A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248202474">View</a>	GT:AD:DP:GQ:PL:TP	0|0:170,0:170:99:0,511,5718:127	0|0:180,0:180:99:0,541,6258:127	0|1:130,36:166:99:679,0,3981:127
1	248224569	.	G	T	5321.54	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=944;MQ=65.43;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75239130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75239130" target="_blank">rs75239130</a>;ExAC.Info.AC=59076;ExAC.Info.AN=126584;ExAC.Info.AF=0.467;ExAC.Info.AC_Het=58277;ExAC.Info.AC_Hom=208;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586G>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Tgc;snpeff.Amino_Acid_Change=p.Gly196Cys/c.586G>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366478:ENST00000359959;SAVANT_GENE=OR2L13:OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13:OR2L3" target="_blank">OR2L13:OR2L3</a>;SAVANT_INFO=+/163.7kb/3/1.9kb:+/0.9kb/1/0.9kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-38109G>T:c.586G>T_p.Gly196Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L13:OR2L3+c.-38109G>T:c.586G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248224569">View</a>	GT:AD:DP:GQ:PL:TP	0|1:250,68:318:99:942,0,7837:3	1|0:267,76:343:99:1168,0,8437:3	0|0:253,30:283:0:0,0,8113:3
1	248224595	.	C	T	5161.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=901;MQ=66.27;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs76336532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76336532" target="_blank">rs76336532</a>;ExAC.Info.AC=56627;ExAC.Info.AN=126670;ExAC.Info.AF=0.447;ExAC.Info.AC_Het=55995;ExAC.Info.AC_Hom=51;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.612C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile204Ile/c.612C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366478:ENST00000359959;SAVANT_GENE=OR2L13:OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13:OR2L3" target="_blank">OR2L13:OR2L3</a>;SAVANT_INFO=+/163.7kb/3/1.9kb:+/0.9kb/1/0.9kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-38083C>T:c.612C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L13:OR2L3+c.-38083C>T:c.612C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248224595">View</a>	GT:AD:DP:GQ:PL:TP	0/1:238,61:299:99:1019,0,7901:39	0/1:274,65:339:99:1163,0,8742:39	0/1:237,26:263:39:39,0,7936:39
1	248224618	.	C	G	1389.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=775;MQ=68.15;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs113050484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113050484" target="_blank">rs113050484</a>;ExAC.Info.AC=16548;ExAC.Info.AN=126702;ExAC.Info.AF=0.131;ExAC.Info.AC_Het=14729;ExAC.Info.AC_Hom=78;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.635C>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCt/gGt;snpeff.Amino_Acid_Change=p.Ala212Gly/c.635C>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366478:ENST00000359959;SAVANT_GENE=OR2L13:OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13:OR2L3" target="_blank">OR2L13:OR2L3</a>;SAVANT_INFO=+/163.7kb/3/1.9kb:+/0.9kb/1/0.9kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-38060C>G:c.635C>G_p.Ala212Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L13:OR2L3+c.-38060C>G:c.635C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248224618">View</a>	GT:AD:DP:GQ:PL:TP	0|1:215,26:241:99:263,0,7251:127	1|0:269,31:300:99:292,0,9139:127	0|0:223,11:234:99:0,281,7799:127
1	248224633	.	A	G	739.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=760;MQ=68.36;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs140524727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140524727" target="_blank">rs140524727</a>;ExAC.Info.AC=2387;ExAC.Info.AN=126704;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2256;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.650A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAt/tGt;snpeff.Amino_Acid_Change=p.Tyr217Cys/c.650A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366478:ENST00000359959;SAVANT_GENE=OR2L13:OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13:OR2L3" target="_blank">OR2L13:OR2L3</a>;SAVANT_INFO=+/163.7kb/3/1.9kb:+/0.9kb/1/0.9kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-38045A>G:c.650A>G_p.Tyr217Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L13:OR2L3+c.-38045A>G:c.650A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248224633">View</a>	GT:AD:DP:GQ:PL:TP	0|1:208,22:230:99:283,0,8782:127	1|0:273,24:297:99:149,0,11432:127	0|0:224,9:233:99:0,323,9709:127
1	248224639	.	G	A	210.87	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=728;MQ=68.42;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=790;ExAC.Info.AN=126704;ExAC.Info.AF=6.235e-03;ExAC.Info.AC_Het=726;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg219Gln/c.656G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366478:ENST00000359959;SAVANT_GENE=OR2L13:OR2L3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13:OR2L3" target="_blank">OR2L13:OR2L3</a>;SAVANT_INFO=+/163.7kb/3/1.9kb:+/0.9kb/1/0.9kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-38039G>A:c.656G>A_p.Arg219Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L13:OR2L3+c.-38039G>A:c.656G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248224639">View</a>	GT:AD:DP:GQ:PL:TP	0|1:200,20:220:99:217,0,8565:66	1|0:270,18:288:0:0,14,11598:66	0|0:213,7:220:99:0,321,9370:66
1	248263471	.	G	A	8024.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs45577033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45577033" target="_blank">rs45577033</a>;cosmic68.Histology_subtype=acute_lymphoblastic_T_cell_leukaemia;ExAC.Info.AC=2470;ExAC.Info.AN=126704;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2418;ExAC.Info.AC_Hom=26;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.794G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358120;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg265His/c.794G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358120;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366478;SAVANT_GENE=OR2L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2L13" target="_blank">OR2L13</a>;SAVANT_INFO=+/163.7kb/3/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.794G>A_p.Arg265His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2L13+c.794G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248263471">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,62:111:99:1815,0,1378:127	0|0:145,0:145:99:0,436,5182:127	1|0:55,55:110:99:1599,0,1662:127
1	248366702	.	G	A	39053.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=822;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs4916112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4916112" target="_blank">rs4916112</a>;ExAC.Info.AC=71745;ExAC.Info.AN=126704;ExAC.Info.AF=0.566;ExAC.Info.AC_Het=30167;ExAC.Info.AC_Hom=20786;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M3" target="_blank">OR2M3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456743;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M3" target="_blank">OR2M3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456743;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu111Glu/c.333G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M3" target="_blank">OR2M3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456743;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456743;SAVANT_GENE=OR2M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M3" target="_blank">OR2M3</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.333G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2M3+c.333G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248366702">View</a>	GT:AD:DP:GQ:PL:TP	0|1:124,137:261:99:3675,0,3698:127	1|1:0,337:337:99:11736,1013,0:127	0|1:114,110:224:99:3225,0,3471:127
1	248367306	.	T	A	6708.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=N;dbSNP139.ID=rs41304018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41304018" target="_blank">rs41304018</a>;ExAC.Info.AC=433;ExAC.Info.AN=126694;ExAC.Info.AF=3.418e-03;ExAC.Info.AC_Het=431;ExAC.Info.AC_Hom=1;snpeff.Effect=stop_lost;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tga/Aga;snpeff.Amino_Acid_Change=p.Ter313Argext*?/c.937T>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M3" target="_blank">OR2M3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456743;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456743;SAVANT_GENE=OR2M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M3" target="_blank">OR2M3</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.937T>A_p.X313ArgextX3;SAVANT_EFFECT=STOP_LOSS;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SL;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2M3+c.937T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248367306">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,41:100:99:1030,0,1636:127	0|0:146,0:146:99:0,439,4999:127	1|0:50,51:101:99:1446,0,1374:127
1	248402758	.	C	T	24229.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=543;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs6666148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6666148" target="_blank">rs6666148</a>;ExAC.Info.AC=94915;ExAC.Info.AN=126704;ExAC.Info.AF=0.749;ExAC.Info.AC_Het=22595;ExAC.Info.AC_Hom=36151;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.528C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR2M4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M4" target="_blank">OR2M4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306687;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.528C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR2M4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M4" target="_blank">OR2M4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306687;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His176His/c.528C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR2M4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M4" target="_blank">OR2M4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306687;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306687;SAVANT_GENE=OR2M4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M4" target="_blank">OR2M4</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.528C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2M4+c.528C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248402758">View</a>	GT:AD:DP:GQ:PL:TP	0|1:95,69:164:99:1921,0,2926:127	1|1:0,186:186:99:6397,559,0:127	0|1:99,94:193:99:2596,0,3059:127
1	248457979	.	C	A	37664.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6667171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6667171" target="_blank">rs6667171</a>;ExAC.Info.AC=98201;ExAC.Info.AN=126702;ExAC.Info.AF=0.775;ExAC.Info.AC_Het=21653;ExAC.Info.AC_Hom=38268;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.902C>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2T12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T12" target="_blank">OR2T12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cTg;snpeff.Amino_Acid_Change=p.Arg301Leu/c.902G>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2T12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T12" target="_blank">OR2T12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317996;SAVANT_GENE=OR2T12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T12" target="_blank">OR2T12</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.902G>T_p.Arg301Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T12+c.902G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248457979">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,140:140:99:4733,421,0:127	1|1:0,166:166:99:5876,498,0:127	1|1:0,166:166:99:5757,499,0:127
1	248458689	.	A	G	7949.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=77;MQ=63.86;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6674940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6674940" target="_blank">rs6674940</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37690;ExAC.Info.AN=107994;ExAC.Info.AF=0.349;ExAC.Info.AC_Het=9851;ExAC.Info.AC_Hom=5768;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.192A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2T12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T12" target="_blank">OR2T12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu64Leu/c.192T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2T12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T12" target="_blank">OR2T12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317996;SAVANT_GENE=OR2T12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T12" target="_blank">OR2T12</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.192T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T12+c.192T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248458689">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:821,60,0:77	1|1:0,31:31:93:1198,93,0:77	1|1:0,26:26:78:1026,78,0:77
1	248458717	.	C	G	10770.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=121;MQ=66.46;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12745228;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12745228" target="_blank">rs12745228</a>;ExAC.Info.AC=89369;ExAC.Info.AN=126348;ExAC.Info.AF=0.707;ExAC.Info.AC_Het=22684;ExAC.Info.AC_Hom=32601;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.164C>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2T12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T12" target="_blank">OR2T12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aCg;snpeff.Amino_Acid_Change=p.Arg55Thr/c.164G>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR2T12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T12" target="_blank">OR2T12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317996;SAVANT_GENE=OR2T12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T12" target="_blank">OR2T12</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.164G>C_p.Arg55Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T12+c.164G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248458717">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1131,96,0:104	1|1:0,54:54:99:1882,162,0:104	1|1:0,35:35:99:1195,105,0:104
1	248486895	.	G	T	28707.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4244184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4244184" target="_blank">rs4244184</a>;ExAC.Info.AC=96953;ExAC.Info.AN=124664;ExAC.Info.AF=0.778;ExAC.Info.AC_Het=19346;ExAC.Info.AC_Hom=34735;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=37;snpeff.Amino_Acid_Change=c.*37C>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2M7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M7" target="_blank">OR2M7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317965;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317965;SAVANT_GENE=OR2M7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M7" target="_blank">OR2M7</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*37C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2M7+c.*37C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248486895">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:3946,337,0:127	1|1:0,136:136:99:4871,409,0:127	1|1:0,106:106:99:3724,319,0:127
1	248486913	.	A	G	31608.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4244185;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4244185" target="_blank">rs4244185</a>;ExAC.Info.AC=97028;ExAC.Info.AN=125776;ExAC.Info.AF=0.771;ExAC.Info.AC_Het=20214;ExAC.Info.AC_Hom=34975;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=19;snpeff.Amino_Acid_Change=c.*19T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR2M7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M7" target="_blank">OR2M7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317965;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317965;SAVANT_GENE=OR2M7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2M7" target="_blank">OR2M7</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*19T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2M7+c.*19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248486913">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:4265,393,0:127	1|1:0,169:169:99:5655,507,0:127	1|1:0,120:120:99:3940,360,0:127
1	248512064	.	T	G	36800.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28372410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28372410" target="_blank">rs28372410</a>;ExAC.Info.AC=65654;ExAC.Info.AN=125748;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=28748;ExAC.Info.AC_Hom=16552;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28372410" target="_blank">rs28372410</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248512064">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,141:141:99:5155,424,0:127	1|1:0,169:169:99:6200,508,0:127	1|1:0,139:139:99:4954,417,0:127
1	248512094	.	C	T	44557.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=561;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28728105;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28728105" target="_blank">rs28728105</a>;ExAC.Info.AC=66512;ExAC.Info.AN=126516;ExAC.Info.AF=0.526;ExAC.Info.AC_Het=29967;ExAC.Info.AC_Hom=17291;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.18C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr6Thr/c.18C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317861;SAVANT_GENE=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.18C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14C36+c.18C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248512094">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,181:181:99:6201,543,0:127	1|1:0,213:213:99:7537,640,0:127	1|1:0,167:167:99:5913,502,0:127
1	248512498	.	A	G	7176.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28448343;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28448343" target="_blank">rs28448343</a>;ExAC.Info.AC=29364;ExAC.Info.AN=126698;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=21535;ExAC.Info.AC_Hom=3893;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.422A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.422A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln141Arg/c.422A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317861;SAVANT_GENE=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.422A>G_p.Gln141Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14C36+c.422A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248512498">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,45:84:99:1342,0,1230:127	1|0:56,43:99:99:1175,0,1718:127	0|0:66,0:66:99:0,198,2417:127
1	248512637	.	C	T	19050.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2039824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2039824" target="_blank">rs2039824</a>;ExAC.Info.AC=66725;ExAC.Info.AN=126700;ExAC.Info.AF=0.527;ExAC.Info.AC_Het=31046;ExAC.Info.AC_Hom=17796;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys187Cys/c.561C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317861;SAVANT_GENE=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.561C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14C36+c.561C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248512637">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2055,171,0:127	1|1:0,80:80:99:2743,240,0:127	1|1:0,79:79:99:2682,237,0:127
1	248512749	.	G	A	13822.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28377739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28377739" target="_blank">rs28377739</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=66723;ExAC.Info.AN=126700;ExAC.Info.AF=0.527;ExAC.Info.AC_Het=31064;ExAC.Info.AC_Hom=17790;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly225Arg/c.673G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317861;SAVANT_GENE=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.673G>A_p.Gly225Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14C36+c.673G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248512749">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1761,153,0:127	1|1:0,52:52:99:1754,156,0:127	1|1:0,60:60:99:2221,180,0:127
1	248512767	.	G	T	11881.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28545014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28545014" target="_blank">rs28545014</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=66729;ExAC.Info.AN=126702;ExAC.Info.AF=0.527;ExAC.Info.AC_Het=31060;ExAC.Info.AC_Hom=17776;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.691G>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Tac;snpeff.Amino_Acid_Change=p.Asp231Tyr/c.691G>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317861;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317861;SAVANT_GENE=OR14C36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14C36" target="_blank">OR14C36</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.691G>T_p.Asp231Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14C36+c.691G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248512767">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1476,135,0:127	1|1:0,46:46:99:1575,138,0:127	1|1:0,54:54:99:1850,162,0:127
1	248525638	.	CA	C	33830.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=420;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs34079073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34079073" target="_blank">rs34079073</a>;ExAC.Info.AC=59863;ExAC.Info.AN=126704;ExAC.Info.AF=0.472;ExAC.Info.AC_Het=30710;ExAC.Info.AC_Hom=14565;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.757delA;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=OR2T4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T4" target="_blank">OR2T4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366475;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=atc/;snpeff.Amino_Acid_Change=p.Ile253fs/c.757delA;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=OR2T4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T4" target="_blank">OR2T4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366475;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(OR2T4|ENSG00000196944|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000366475;SAVANT_GENE=OR2T4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T4" target="_blank">OR2T4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.757delA;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T4+c.757delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248525638">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,147:147:99:5912,442,0:127	1|1:0,143:143:99:5731,431,0:127	1|0:66,64:130:99:2176,0,2272:127
1	248550976	.	T	G	35851.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=484;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6587467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6587467" target="_blank">rs6587467</a>;ExAC.Info.AC=91253;ExAC.Info.AN=126698;ExAC.Info.AF=0.720;ExAC.Info.AC_Het=24981;ExAC.Info.AC_Hom=33092;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.67T>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T6" target="_blank">OR2T6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355728;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Ggc;snpeff.Amino_Acid_Change=p.Cys23Gly/c.67T>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T6" target="_blank">OR2T6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355728;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355728;SAVANT_GENE=OR2T6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T6" target="_blank">OR2T6</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.67T>G_p.Cys23Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T6+c.67T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248550976">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:5446,456,0:127	1|1:0,213:213:99:7566,639,0:127	1|0:65,54:119:99:1536,0,1864:127
1	248551146	.	C	G	1826.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72766981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72766981" target="_blank">rs72766981</a>;ExAC.Info.AC=473;ExAC.Info.AN=126672;ExAC.Info.AF=3.734e-03;ExAC.Info.AC_Het=472;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.237C>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T6" target="_blank">OR2T6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355728;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro79Pro/c.237C>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T6" target="_blank">OR2T6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355728;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355728;SAVANT_GENE=OR2T6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T6" target="_blank">OR2T6</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.237C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T6+c.237C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248551146">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2689:127	0|0:92,0:92:99:0,277,3461:127	0|1:27,34:61:99:932,0,764:127
1	248569282	.	A	G	6775.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs28667896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28667896" target="_blank">rs28667896</a>;ExAC.Info.AC=56176;ExAC.Info.AN=126258;ExAC.Info.AF=0.445;ExAC.Info.AC_Het=27421;ExAC.Info.AC_Hom=13053;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28667896" target="_blank">rs28667896</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248569282">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1536,126,0:125	1|0:33,14:47:99:437,0,1034:125	1|0:25,23:48:99:779,0,755:125
1	248569369	.	A	G	17759.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28599722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28599722" target="_blank">rs28599722</a>;ExAC.Info.AC=58811;ExAC.Info.AN=126692;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=29074;ExAC.Info.AC_Hom=14845;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74A>G;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=OR2T1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T1" target="_blank">OR2T1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366474;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His25Arg/c.74A>G;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=OR2T1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T1" target="_blank">OR2T1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366474;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366474;SAVANT_GENE=OR2T1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T1" target="_blank">OR2T1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.74A>G_p.His25Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T1+c.74A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248569369">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3589,310,0:127	1|0:88,61:149:99:1743,0,2662:127	1|0:76,61:137:99:1750,0,2412:127
1	248604542	.	C	T	8311.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=193;MQ=61.87;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61834485;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61834485" target="_blank">rs61834485</a>;ExAC.Info.AC=45168;ExAC.Info.AN=82778;ExAC.Info.AF=0.546;ExAC.Info.AC_Het=7761;ExAC.Info.AC_Hom=8483;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.35C>T;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr12Met/c.35C>T;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248604542">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,57:78:99:1710,0,553:127	0/1:22,64:86:99:1978,0,519:127	0/1:23,6:29:99:143,0,769:127
1	248604559	.	T	TTC	4418.98	VQSRTrancheINDEL99.90to100.00	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=174;MQ=63.37;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs150497047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150497047" target="_blank">rs150497047</a>;ExAC.Info.AC=1370;ExAC.Info.AN=41196;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=27;ExAC.Info.AC_Hom=4;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53_54insTC;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=ttc/tTCtc;snpeff.Amino_Acid_Change=p.Phe18_Phe19fs/c.53_54insTC;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(OR2T7|ENSG00000227152|1|1.00);TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248604559">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,13:71:99:363,0,2349:81	0|1:62,15:77:99:456,0,2490:81	1|1:0,26:26:81:1143,81,0:81
1	248604614	.	A	T	408.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=213;MQ=52.88;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs201226597;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201226597" target="_blank">rs201226597</a>;ExAC.Info.AC=64482;ExAC.Info.AN=126704;ExAC.Info.AF=0.509;ExAC.Info.AC_Het=53231;ExAC.Info.AC_Hom=5180;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107A>T;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aTg;snpeff.Amino_Acid_Change=p.Lys36Met/c.107A>T;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248604614">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,13:83:99:173,0,2231:127	0|0:89,0:89:99:0,268,3165:127	1|0:34,7:41:99:120,0,1082:127
1	248604694	.	C	T	536.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=183;MQ=45.45;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs199872993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199872993" target="_blank">rs199872993</a>;ExAC.Info.AC=23994;ExAC.Info.AN=126590;ExAC.Info.AF=0.190;ExAC.Info.AC_Het=22615;ExAC.Info.AC_Hom=61;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.187C>T;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu63Leu/c.187C>T;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248604694">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2576:127	0|1:52,14:66:99:287,0,1789:127	0|0:47,0:47:99:0,141,1715:127
1	248604765	.	T	A	9544.0	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=180;MQ=39.82;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs144165631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144165631" target="_blank">rs144165631</a>;ExAC.Info.AC=77679;ExAC.Info.AN=126436;ExAC.Info.AF=0.614;ExAC.Info.AC_Het=43290;ExAC.Info.AC_Hom=13715;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258T>A;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcA;snpeff.Amino_Acid_Change=p.Ala86Ala/c.258T>A;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248604765">View</a>	GT:AD:DP:GQ:PL:TP	1|1:5,70:75:51:2091,51,0:51	1|0:9,53:62:99:1545,0,124:51	1|0:26,17:43:99:382,0,771:51
1	248604943	.	G	A	420.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=132;MQ=40.46;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs199920874;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199920874" target="_blank">rs199920874</a>;ExAC.Info.AC=11142;ExAC.Info.AN=126454;ExAC.Info.AF=0.088;ExAC.Info.AC_Het=10818;ExAC.Info.AC_Hom=39;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.436G>A;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.436G>A;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp146Asn/c.436G>A;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2T7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000460972;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T7" target="_blank">OR2T7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248604943">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1598:54	0|1:50,14:64:99:229,0,1453:54	0|0:18,0:18:54:0,54,608:54
1	248637046	.	G	A	3928.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=392;MQ=39.60;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs148025314;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148025314" target="_blank">rs148025314</a>;ExAC.Info.AC=34905;ExAC.Info.AN=126464;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=28770;ExAC.Info.AC_Hom=2179;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.395G>A;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.395G>A;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tAc;snpeff.Amino_Acid_Change=p.Cys132Tyr/c.395G>A;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359594;SAVANT_GENE=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.395G>A_p.Cys132Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T3+c.395G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248637046">View</a>	GT:AD:DP:GQ:PL:TP	0|1:114,29:143:99:751,0,4278:127	1|0:85,35:120:99:1051,0,3078:127	0|0:129,0:129:99:0,391,5344:127
1	248637065	.	A	G	3069.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=284;MQ=39.68;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs139758663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139758663" target="_blank">rs139758663</a>;ExAC.Info.AC=15442;ExAC.Info.AN=126410;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=14462;ExAC.Info.AC_Hom=33;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro138Pro/c.414A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359594;SAVANT_GENE=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.414A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T3+c.414A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248637065">View</a>	GT:AD:DP:GQ:PL:TP	0|1:88,19:107:99:575,0,3627:127	1|0:61,23:84:99:849,0,2381:127	0|0:93,0:93:99:0,292,4230:127
1	248637115	.	T	C	1908.54	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=264;MQ=48.07;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs139558207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139558207" target="_blank">rs139558207</a>;ExAC.Info.AC=32842;ExAC.Info.AN=125728;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=21547;ExAC.Info.AC_Hom=1679;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.464T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.464T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTt/gCt;snpeff.Amino_Acid_Change=p.Val155Ala/c.464T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359594;SAVANT_GENE=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.464T>C_p.Val155Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T3+c.464T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248637115">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,6:90:66:0,66,2750:66	0|1:34,31:65:99:869,0,1036:66	0|0:109,0:109:99:0,328,3935:66
1	248637362	.	C	T	3646.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=525;MQ=62.54;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs77686526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77686526" target="_blank">rs77686526</a>;ExAC.Info.AC=40221;ExAC.Info.AN=126500;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=27605;ExAC.Info.AC_Hom=6168;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.711C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala237Ala/c.711C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359594;SAVANT_GENE=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.711C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T3+c.711C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248637362">View</a>	GT:AD:DP:GQ:PL:TP	0|1:186,34:220:99:393,0,5993:127	1|0:80,38:118:99:981,0,2307:127	0|0:187,0:187:99:0,562,6557:127
1	248637480	.	A	G	2034.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=828;MQ=47.71;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs74498773;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74498773" target="_blank">rs74498773</a>;ExAC.Info.AC=15406;ExAC.Info.AN=126704;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=15381;ExAC.Info.AC_Hom=6;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met277Val/c.829A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359594;SAVANT_GENE=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.829A>G_p.Met277Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T3+c.829A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248637480">View</a>	GT:AD:DP:GQ:PL:TP	0|0:277,1:278:99:0,802,9142:127	0|1:209,58:267:99:1036,0,6220:127	0|0:283,0:283:99:0,850,9422:127
1	248637543	.	C	T	6951.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=797;MQ=40.94;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs139993642;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139993642" target="_blank">rs139993642</a>;ExAC.Info.AC=33946;ExAC.Info.AN=126700;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=33841;ExAC.Info.AC_Hom=23;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.892C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg298Cys/c.892C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359594;SAVANT_GENE=OR2T3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T3" target="_blank">OR2T3</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.892C>T_p.Arg298Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T3+c.892C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248637543">View</a>	GT:AD:DP:GQ:PL:TP	0|1:172,70:242:99:1605,0,4913:127	1|0:184,84:268:99:1895,0,5254:127	0|0:287,0:287:99:0,862,9304:127
1	248651905	.	A	T	198.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=219;MQ=54.49;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199833498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199833498" target="_blank">rs199833498</a>;ExAC.Info.AC=10944;ExAC.Info.AN=117656;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=2934;ExAC.Info.AC_Hom=244;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.16A>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Tgg;snpeff.Amino_Acid_Change=p.Arg6Trp/c.16A>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366473;SAVANT_GENE=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.16A>T_p.Arg6Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T5+c.16A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248651905">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,5:90:99:0,103,2678:102	0|1:24,6:30:99:118,0,704:102	0|0:99,0:99:99:0,297,3393:102
1	248651927	.	A	G	6424.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=256;MQ=55.08;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201060805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201060805" target="_blank">rs201060805</a>;ExAC.Info.AC=84379;ExAC.Info.AN=114596;ExAC.Info.AF=0.736;ExAC.Info.AC_Het=3532;ExAC.Info.AC_Hom=10747;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.38A>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys13Arg/c.38A>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366473;SAVANT_GENE=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.38A>G_p.Lys13Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T5+c.38A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248651927">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,31:101:99:758,0,2008:114	1|1:0,38:38:99:1311,114,0:114	0|1:93,24:117:99:469,0,2913:114
1	248651959	.	C	T	3458.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=472;MQ=47.74;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=D;dbSNP139.ID=rs76332972;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76332972" target="_blank">rs76332972</a>;cosmic68.Histology_subtype=diffuse_large_B_cell_lymphoma;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=21984973;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21984973" target="_blank">21984973</a>;ExAC.Info.AC=14674;ExAC.Info.AN=126690;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=14463;ExAC.Info.AC_Hom=13;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.70C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cga/Tga;snpeff.Amino_Acid_Change=p.Arg24*/c.70C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366473;SAVANT_GENE=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.70C>T_p.Arg24X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T5+c.70C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248651959">View</a>	GT:AD:DP:GQ:PL:TP	0|1:142,31:173:99:409,0,3839:127	1|0:73,45:118:99:1023,0,1695:127	0|0:181,0:181:99:0,543,5626:127
1	248652011	.	A	T	2818.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=399;MQ=42.73;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs150528589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150528589" target="_blank">rs150528589</a>;cosmic68.Histology_subtype=cystic_tumour;ExAC.Info.AC=35118;ExAC.Info.AN=126480;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=30271;ExAC.Info.AC_Hom=2141;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.122A>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aTg;snpeff.Amino_Acid_Change=p.Lys41Met/c.122A>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366473;SAVANT_GENE=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.122A>T_p.Lys41Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T5+c.122A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248652011">View</a>	GT:AD:DP:GQ:PL:TP	0|1:111,27:138:99:336,0,3141:127	1|0:78,32:110:99:600,0,2040:127	0|0:151,0:151:99:0,454,4874:127
1	248652023	.	G	A	2842.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=375;MQ=40.92;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs139516854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139516854" target="_blank">rs139516854</a>;ExAC.Info.AC=32888;ExAC.Info.AN=126592;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=27699;ExAC.Info.AC_Hom=1951;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.134G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gAa;snpeff.Amino_Acid_Change=p.Gly45Glu/c.134G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366473;SAVANT_GENE=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.134G>A_p.Gly45Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T5+c.134G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248652023">View</a>	GT:AD:DP:GQ:PL:TP	0|1:102,26:128:99:352,0,2908:127	1|0:77,30:107:99:579,0,1982:127	0|0:140,0:140:99:0,420,4520:127
1	248652175	.	G	A	261.2	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=20;MQ=39.67;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199519459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199519459" target="_blank">rs199519459</a>;ExAC.Info.AC=5372;ExAC.Info.AN=116774;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=2408;ExAC.Info.AC_Hom=59;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.286G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val96Ile/c.286G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366473;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366473;SAVANT_GENE=OR2T5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T5" target="_blank">OR2T5</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.286G>A_p.Val96Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T5+c.286G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248652175">View</a>	GT:AD:DP:GQ:PL:TP	0|1:4,2:6:51:51,0,120:18	1|0:4,4:8:99:106,0,115:18	0|0:6,0:6:18:0,18,237:18
1	248685253	.	T	C	28574.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs9727474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9727474" target="_blank">rs9727474</a>;ExAC.Info.AC=124915;ExAC.Info.AN=126702;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1534;ExAC.Info.AC_Hom=61677;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306T>C;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2G6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G6" target="_blank">OR2G6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343414;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.306T>C;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2G6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G6" target="_blank">OR2G6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343414;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr102Tyr/c.306T>C;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2G6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G6" target="_blank">OR2G6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343414;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343414;SAVANT_GENE=OR2G6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G6" target="_blank">OR2G6</a>;SAVANT_INFO=+/1.1kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.306T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2G6+c.306T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248685253">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2913,252,0:127	1|1:0,154:154:99:5360,463,0:127	1|1:0,109:109:99:3763,328,0:127
1	248685719	.	A	T	6495.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=604;MQ=69.99;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9330305;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9330305" target="_blank">rs9330305</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=17411;ExAC.Info.AN=126702;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=14777;ExAC.Info.AC_Hom=1314;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772A>T;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2G6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G6" target="_blank">OR2G6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343414;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Ttg;snpeff.Amino_Acid_Change=p.Met258Leu/c.772A>T;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2G6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G6" target="_blank">OR2G6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343414;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343414;SAVANT_GENE=OR2G6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2G6" target="_blank">OR2G6</a>;SAVANT_INFO=+/1.1kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.772A>T_p.Met258Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2G6+c.772A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248685719">View</a>	GT:AD:DP:GQ:PL:TP	0|0:170,1:171:99:0,473,5867:127	0|1:120,110:230:99:3267,0,3630:127	0|0:203,0:203:99:0,610,7303:127
1	248722659	.	C	T	3291.54	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=69;MQ=47.96;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201896684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201896684" target="_blank">rs201896684</a>;ExAC.Info.AC=20686;ExAC.Info.AN=123562;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=12629;ExAC.Info.AC_Hom=1529;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-438F14.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.134C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328570;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gAa;snpeff.Amino_Acid_Change=p.Gly45Glu/c.134G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328570;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328570;SAVANT_GENE=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T29" target="_blank">OR2T29</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.134G>A_p.Gly45Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T29+c.134G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248722659">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,2:5:52:52,0,89:14	0/1:8,51:59:99:1543,0,101:14	0/1:4,1:5:14:14,0,122:14
1	248722671	.	T	A	4179.85	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=89;MQ=48.64;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs140437806;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140437806" target="_blank">rs140437806</a>;ExAC.Info.AC=48632;ExAC.Info.AN=122302;ExAC.Info.AF=0.398;ExAC.Info.AC_Het=20576;ExAC.Info.AC_Hom=9225;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-438F14.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.122T>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328570;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aTg;snpeff.Amino_Acid_Change=p.Lys41Met/c.122A>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328570;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328570;SAVANT_GENE=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T29" target="_blank">OR2T29</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.122A>T_p.Lys41Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T29+c.122A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248722671">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,3:6:84:84,0,86:6	0/1:10,65:75:99:1972,0,122:6	0/1:7,1:8:5:5,0,219:6
1	248722722	.	T	C	5305.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=139;MQ=48.52;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199528787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199528787" target="_blank">rs199528787</a>;ExAC.Info.AC=57065;ExAC.Info.AN=113692;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=12181;ExAC.Info.AC_Hom=4244;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-438F14.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.71T>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328570;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln24Arg/c.71A>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328570;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328570;SAVANT_GENE=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T29" target="_blank">OR2T29</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.71A>G_p.Gln24Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T29+c.71A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248722722">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,22:22:66:826,66,0:31	1|0:69,29:98:99:730,0,1862:31	1|1:1,18:19:31:600,31,0:31
1	248722723	.	G	A	543.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=144;MQ=48.10;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=D;dbSNP139.ID=rs200037558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200037558" target="_blank">rs200037558</a>;ExAC.Info.AC=2932;ExAC.Info.AN=123774;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=2130;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-438F14.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.70G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328570;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Caa/Taa;snpeff.Amino_Acid_Change=p.Gln24*/c.70C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328570;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328570;SAVANT_GENE=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T29" target="_blank">OR2T29</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.70C>T_p.Gln24X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T29+c.70C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248722723">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,6:24:99:136,0,500:17	0|0:97,2:99:99:0,228,3999:17	1|0:21,0:21:0:0,63,720:17
1	248722777	.	T	A	5400.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=164;MQ=41.54;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77589892;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77589892" target="_blank">rs77589892</a>;ExAC.Info.AC=39405;ExAC.Info.AN=126680;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=34086;ExAC.Info.AC_Hom=2298;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-438F14.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.16T>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328570;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Tgg;snpeff.Amino_Acid_Change=p.Arg6Trp/c.16A>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-438F143" target="_blank">RP11-438F143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328570;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328570;SAVANT_GENE=OR2T29;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T29" target="_blank">OR2T29</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.16A>T_p.Arg6Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T29+c.16A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248722777">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,20:49:99:451,0,620:87	1|0:21,65:86:99:2019,0,416:87	0|0:29,0:29:87:0,87,848:87
1	248737167	.	G	A	68.0	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=13;MQ=46.62;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs148590921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148590921" target="_blank">rs148590921</a>;ExAC.Info.AC=15241;ExAC.Info.AN=123858;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=12682;ExAC.Info.AC_Hom=95;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.892G>A;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg298Cys/c.892C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.892C>T_p.Arg298Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.892C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737167">View</a>	GT:AD:DP:GQ:PL:TP	0|1:0,2:2:1:79,6,0:2	1|0:8,1:9:14:14,0,229:2	0|0:2,0:2:6:0,6,74:2
1	248737230	.	T	C	391.04	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=28;MQ=46.90;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199863869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199863869" target="_blank">rs199863869</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15386;ExAC.Info.AN=125770;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=14104;ExAC.Info.AC_Hom=232;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met277Val/c.829A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.829A>G_p.Met277Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.829A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737230">View</a>	GT:AD:DP:GQ:PL:TP	0|0:4,0:4:12:0,12,151:11	0|1:11,7:18:99:214,0,337:11	0|0:6,0:6:18:0,18,214:11
1	248737259	.	C	G	3059.94	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=44;MQ=51.03;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs189248971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=189248971" target="_blank">rs189248971</a>;ExAC.Info.AC=122980;ExAC.Info.AN=123738;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=110;ExAC.Info.AC_Hom=50581;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.800C>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cCg;snpeff.Amino_Acid_Change=p.Arg267Pro/c.800G>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.800G>C_p.Arg267Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.800G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737259">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,9:9:27:326,27,0:24	1|1:0,27:27:81:962,81,0:24	1|1:0,8:8:24:297,24,0:24
1	248737293	.	G	A	2588.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=100;MQ=59.66;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs200427293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200427293" target="_blank">rs200427293</a>;ExAC.Info.AC=32138;ExAC.Info.AN=126446;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=30851;ExAC.Info.AC_Hom=487;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.766G>A;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu256Phe/c.766C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.766C>T_p.Leu256Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.766C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737293">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,630:41	0|1:36,34:70:99:1313,0,1478:41	0|0:16,0:16:51:0,51,759:41
1	248737294	.	C	G	2588.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=103;MQ=59.75;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs201475070;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201475070" target="_blank">rs201475070</a>;ExAC.Info.AC=32139;ExAC.Info.AN=126460;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=30853;ExAC.Info.AC_Hom=488;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.765C>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu255Leu/c.765G>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.765G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.765G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737294">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,630:41	0|1:38,34:72:99:1313,0,1478:41	0|0:17,0:17:51:0,51,759:41
1	248737319	.	G	A	3250.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=164;MQ=59.24;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77940099;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77940099" target="_blank">rs77940099</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15728;ExAC.Info.AN=126548;ExAC.Info.AF=0.124;ExAC.Info.AC_Het=15186;ExAC.Info.AC_Hom=263;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.740G>A;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tTc;snpeff.Amino_Acid_Change=p.Ser247Phe/c.740C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.740C>T_p.Ser247Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.740C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737319">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,0:18:54:0,54,715:53	0|1:63,57:120:99:1644,0,1812:53	0|0:26,0:26:78:0,78,946:53
1	248737343	.	C	T	2788.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=221;MQ=60.69;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61833441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61833441" target="_blank">rs61833441</a>;ExAC.Info.AC=30914;ExAC.Info.AN=126556;ExAC.Info.AF=0.244;ExAC.Info.AC_Het=29330;ExAC.Info.AC_Hom=559;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.716C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg239His/c.716G>A;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.716G>A_p.Arg239His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.716G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737343">View</a>	GT:AD:DP:GQ:PL:TP	0|1:0,22:22:0:791,66,0:14	1|0:134,25:159:99:429,0,4939:14	0|0:40,0:40:99:0,123,1813:14
1	248737348	.	G	A	9906.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=235;MQ=60.80;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61833442;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61833442" target="_blank">rs61833442</a>;ExAC.Info.AC=41188;ExAC.Info.AN=126550;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=36257;ExAC.Info.AC_Hom=2341;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.711G>A;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala237Ala/c.711C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.711C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.711C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737348">View</a>	GT:AD:DP:GQ:PL:TP	0|1:0,24:24:0:1060,72,0:8	1|0:65,108:173:99:3490,0,1496:8	0|0:38,0:38:99:0,114,1263:8
1	248737511	.	A	G	3192.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=345;MQ=61.09;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs150608839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150608839" target="_blank">rs150608839</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15861;ExAC.Info.AN=126556;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=15105;ExAC.Info.AC_Hom=340;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tCc;snpeff.Amino_Acid_Change=p.Phe183Ser/c.548T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.548T>C_p.Phe183Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.548T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737511">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2018:127	0|1:152,66:218:99:1615,0,4248:127	0|0:63,0:63:99:0,189,2020:127
1	248737595	.	A	G	3151.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=107;MQ=53.48;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs150601708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150601708" target="_blank">rs150601708</a>;cosmic68.Histology_subtype=transitional_cell_carcinoma;ExAC.Info.AC=41141;ExAC.Info.AN=126408;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=35999;ExAC.Info.AC_Hom=1864;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.464A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.464A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTt/gCt;snpeff.Amino_Acid_Change=p.Val155Ala/c.464T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.464T>C_p.Val155Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.464T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737595">View</a>	GT:AD:DP:GQ:PL:TP	0|1:0,15:15:0:608,45,0:33	1|0:44,20:64:99:575,0,1400:33	0|0:28,0:28:84:0,84,1012:33
1	248737645	.	T	C	699.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=77;MQ=43.84;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs143071665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=143071665" target="_blank">rs143071665</a>;ExAC.Info.AC=13821;ExAC.Info.AN=126294;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=12086;ExAC.Info.AC_Hom=185;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro138Pro/c.414A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.414A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.414A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737645">View</a>	GT:AD:DP:GQ:PL:TP	0|1:0,6:6:0:252,18,0:61	1|0:34,4:38:55:55,0,1322:61	0|0:33,0:33:99:0,102,1458:61
1	248737664	.	C	T	570.84	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=81;MQ=40.47;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs147489167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147489167" target="_blank">rs147489167</a>;ExAC.Info.AC=19403;ExAC.Info.AN=126318;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=17122;ExAC.Info.AC_Hom=125;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.395C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.395C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tAc;snpeff.Amino_Acid_Change=p.Cys132Tyr/c.395G>A;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328782;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328782;SAVANT_GENE=OR2T34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T34" target="_blank">OR2T34</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.395G>A_p.Cys132Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T34+c.395G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248737664">View</a>	GT:AD:DP:GQ:PL:TP	0|1:0,4:4:0:180,12,0:67	1|0:31,5:36:93:93,0,1240:67	0|0:41,0:41:99:0,129,1758:67
1	248789454	.	G	C	7672.93	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1892441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1892441" target="_blank">rs1892441</a>;ExAC.Info.AC=118083;ExAC.Info.AN=123152;ExAC.Info.AF=0.959;ExAC.Info.AC_Het=2160;ExAC.Info.AC_Hom=55505;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=25;snpeff.Amino_Acid_Change=c.*25C>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330803;SAVANT_GENE=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*25C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T11+c.*25C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248789454">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,65:65:99:2334,195,0	1|1:0,43:43:99:1515,129,0
1	248789504	.	T	C	11013.89	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1892442;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1892442" target="_blank">rs1892442</a>;ExAC.Info.AC=121413;ExAC.Info.AN=123838;ExAC.Info.AF=0.980;ExAC.Info.AC_Het=1437;ExAC.Info.AC_Hom=59516;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.926T>C;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln309Arg/c.926A>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330803;SAVANT_GENE=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.926A>G_p.Gln309Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T11+c.926A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248789504">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,83:83:99:2860,249,0	1|1:0,74:74:99:2654,222,0
1	248789753	.	G	C	5826.93	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28555577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28555577" target="_blank">rs28555577</a>;ExAC.Info.AC=10811;ExAC.Info.AN=123956;ExAC.Info.AF=0.087;ExAC.Info.AC_Het=7143;ExAC.Info.AC_Hom=1755;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.677G>C;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cGc;snpeff.Amino_Acid_Change=p.Pro226Arg/c.677C>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330803;SAVANT_GENE=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.677C>G_p.Pro226Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T11+c.677C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248789753">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,52:52:99:1767,156,0	1|1:0,32:32:96:1159,96,0
1	248790075	.	A	G	10772.93	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1892443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1892443" target="_blank">rs1892443</a>;ExAC.Info.AC=119722;ExAC.Info.AN=123622;ExAC.Info.AF=0.968;ExAC.Info.AC_Het=1943;ExAC.Info.AC_Hom=58697;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys119Arg/c.355T>C;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330803;SAVANT_GENE=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.355T>C_p.Cys119Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T11+c.355T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248790075">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,78:78:99:2636,234,0	1|1:0,80:80:99:2763,240,0
1	248790167	.	A	G	8068.93	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34397542;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34397542" target="_blank">rs34397542</a>;ExAC.Info.AC=10941;ExAC.Info.AN=123606;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=7233;ExAC.Info.AC_Hom=1774;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.263A>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile88Thr/c.263T>C;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330803;SAVANT_GENE=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.263T>C_p.Ile88Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T11+c.263T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248790167">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,57:57:99:2197,171,0	1|1:0,50:50:99:1850,150,0
1	248790199	.	T	C	8078.93	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs34674180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34674180" target="_blank">rs34674180</a>;ExAC.Info.AC=11010;ExAC.Info.AN=123850;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=7250;ExAC.Info.AC_Hom=1802;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.231T>C;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys77Lys/c.231A>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330803;SAVANT_GENE=OR2T11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T11" target="_blank">OR2T11</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.231A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T11+c.231A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248790199">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,60:60:99:2351,180,0	1|1:0,42:42:99:1701,126,0
1	248801572	.	A	G	520.64	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=6;MQ=29.55;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs201969645;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201969645" target="_blank">rs201969645</a>;ExAC.Info.AC=986;ExAC.Info.AN=10708;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=113;ExAC.Info.AC_Hom=11;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201969645" target="_blank">rs201969645</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248801572">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:15:204,15,0:2	1|1:0,1:1:3:35,3,0:2	1|1:0,1:1:3:45,3,0:2
1	248801575	.	C	G	415.21	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=5;MQ=29.46;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=./.;dbSNP139.ID=rs199693554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199693554" target="_blank">rs199693554</a>;ExAC.Info.AC=915;ExAC.Info.AN=11186;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=1;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199693554" target="_blank">rs199693554</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248801575">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:12:169,12,0:4	./.	1|1:0,1:1:3:45,3,0:4
1	248801778	.	A	T	2030.69	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=34;MQ=38.34;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201643849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201643849" target="_blank">rs201643849</a>;ExAC.Info.AC=55134;ExAC.Info.AN=96988;ExAC.Info.AF=0.568;ExAC.Info.AC_Het=8579;ExAC.Info.AC_Hom=3222;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782A>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=OR2T35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T35" target="_blank">OR2T35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317450;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cAg;snpeff.Amino_Acid_Change=p.Leu261Gln/c.782T>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=OR2T35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T35" target="_blank">OR2T35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317450;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317450;SAVANT_GENE=OR2T35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T35" target="_blank">OR2T35</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.782T>A_p.Leu261Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T35+c.782T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248801778">View</a>	GT:AD:DP:GQ:PL:TP	0|1:1,0:1:2:0,3,40:22	1|1:1,20:21:28:677,28,0:22	0|1:1,11:12:6:359,0,6:22
1	248801944	.	TCAGCACG	T	10594.77	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=123;MQ=39.04;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs143010547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=143010547" target="_blank">rs143010547</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=24176758;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24176758" target="_blank">24176758</a>;ExAC.Info.AC=85788;ExAC.Info.AN=120082;ExAC.Info.AF=0.714;ExAC.Info.AC_Het=21768;ExAC.Info.AC_Hom=16723;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609_615delCAGCACG;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=OR2T35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T35" target="_blank">OR2T35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317450;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=tgcgtgctg/;snpeff.Amino_Acid_Change=p.Cys203fs/c.609_615delCGTGCTG;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=OR2T35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T35" target="_blank">OR2T35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317450;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(OR2T35|ENSG00000177151|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000317450;SAVANT_GENE=OR2T35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T35" target="_blank">OR2T35</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.609_615del7;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T35+c.609_615del7+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248801944">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,60:60:99:2571,181,0	1|1:0,63:63:99:2748,190,0
1	248802249	.	T	TAGA	1793.95	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=16;MQ=37.34;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs201931676;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201931676" target="_blank">rs201931676</a>;ExAC.Info.AC=1950;ExAC.Info.AN=12076;ExAC.Info.AF=0.161;ExAC.Info.AC_Het=24;ExAC.Info.AC_Hom=11;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.310_311insAGA;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=OR2T35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T35" target="_blank">OR2T35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317450;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.310_311insAGA;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=OR2T35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T35" target="_blank">OR2T35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317450;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=tac/tTCTac;snpeff.Amino_Acid_Change=p.Tyr104_Leu105insPheTyr/c.310_311insTCT;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=OR2T35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T35" target="_blank">OR2T35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317450;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000317450;SAVANT_GENE=OR2T35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T35" target="_blank">OR2T35</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.308_310dupTCT_p.Phe103dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T35+c.308_310dupTCT+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248802249">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,5:5:18:184,18,0:15	1|1:0,8:8:36:370,36,0:15	1|1:0,3:3:15:154,15,0:15
1	248813271	.	C	A	536.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=386;MQ=66.93;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2802081;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2802081" target="_blank">rs2802081</a>;ExAC.Info.AC=7489;ExAC.Info.AN=125510;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=5533;ExAC.Info.AC_Hom=72;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.915C>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtT;snpeff.Amino_Acid_Change=p.Val305Val/c.915G>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344889;SAVANT_GENE=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.915G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T27+c.915G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248813271">View</a>	GT:AD:DP:GQ:PL:TP	0|1:83,14:97:99:157,0,2438:127	1|0:82,12:94:96:96,0,3423:127	0|0:181,14:195:99:0,178,6376:127
1	248813280	.	C	T	9476.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=374;MQ=67.28;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs116125618;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=116125618" target="_blank">rs116125618</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=10526;ExAC.Info.AN=125196;ExAC.Info.AF=0.084;ExAC.Info.AC_Het=7826;ExAC.Info.AC_Hom=1214;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln302Gln/c.906G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344889;SAVANT_GENE=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.906G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T27+c.906G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248813280">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,291,3404:127	0|1:8,84:92:99:2516,0,115:127	0|1:106,80:186:99:2243,0,2954:127
1	248813542	.	G	A	6312.15	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=105;MQ=55.15;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77685347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77685347" target="_blank">rs77685347</a>;ExAC.Info.AC=17679;ExAC.Info.AN=75980;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=2670;ExAC.Info.AC_Hom=6209;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCg/tTg;snpeff.Amino_Acid_Change=p.Ser215Leu/c.644C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344889;SAVANT_GENE=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.644C>T_p.Ser215Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T27+c.644C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248813542">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,1:1:3:38,3,0:4	1|1:0,55:55:99:1806,165,0:4	1|0:5,44:49:74:1353,0,74:4
1	248813650	.	CAGA	C	3739.09	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=58;MQ=37.41;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs199590470;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199590470" target="_blank">rs199590470</a>;ExAC.Info.AC=11545;ExAC.Info.AN=122964;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=8378;ExAC.Info.AC_Hom=691;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.533_535delAGA;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.533_535delAGA;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=disruptive_inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ttctgc/tgc;snpeff.Amino_Acid_Change=p.Phe178_Cys179del/c.533_535delTCT;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000344889;SAVANT_GENE=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.533_535delTCT_p.Phe178del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T27+c.533_535delTCT+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248813650">View</a>	GT:AD:DP:GQ:PL:TP	0|1:7,1:8:21:21,0,291:21	1|1:1,21:22:21:890,21,0:21	0|1:4,24:28:75:996,0,75:21
1	248813723	.	C	T	990.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=60;MQ=32.56;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs138825902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138825902" target="_blank">rs138825902</a>;ExAC.Info.AC=11980;ExAC.Info.AN=124482;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=8672;ExAC.Info.AC_Hom=1185;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp155Asn/c.463G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344889;SAVANT_GENE=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.463G>A_p.Asp155Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T27+c.463G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248813723">View</a>	GT:AD:DP:GQ:PL:TP	0|0:22,0:22:66:0,66,670:66	0|1:4,8:12:99:242,0,103:66	0|1:16,10:26:99:273,0,391:66
1	248813785	.	A	T	1553.32	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=94;MQ=43.18;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs200036975;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200036975" target="_blank">rs200036975</a>;cosmic68.Histology_subtype=transitional_cell_carcinoma;ExAC.Info.AC=1686;ExAC.Info.AN=124838;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1049;ExAC.Info.AC_Hom=18;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.401A>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.401A>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gAc;snpeff.Amino_Acid_Change=p.Val134Asp/c.401T>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344889;SAVANT_GENE=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.401T>A_p.Val134Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T27+c.401T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248813785">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,12:35:99:304,0,546:30	1|1:0,10:10:30:341,30,0:30	0|0:47,2:49:78:0,78,1499:30
1	248813901	.	A	T	3674.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=225;MQ=33.16;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs144600224;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144600224" target="_blank">rs144600224</a>;ExAC.Info.AC=72069;ExAC.Info.AN=125472;ExAC.Info.AF=0.574;ExAC.Info.AC_Het=43705;ExAC.Info.AC_Hom=9144;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.285A>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcA;snpeff.Amino_Acid_Change=p.Ala95Ala/c.285T>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344889;SAVANT_GENE=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.285T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T27+c.285T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248813901">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,4:62:73:0,73,1568:73	0|1:57,25:82:99:517,0,1532:73	0|1:32,49:81:99:1340,0,654:73
1	248813972	.	G	A	3794.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=231;MQ=30.04;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs147604785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147604785" target="_blank">rs147604785</a>;ExAC.Info.AC=27842;ExAC.Info.AN=126486;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=26848;ExAC.Info.AC_Hom=213;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.214G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu72Leu/c.214C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344889;SAVANT_GENE=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.214C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T27+c.214C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248813972">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1680:127	0|1:27,72:99:99:1916,0,549:127	0|0:78,0:78:99:0,234,2457:127
1	248814052	.	T	A	2425.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=240;MQ=35.22;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28533004;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28533004" target="_blank">rs28533004</a>;ExAC.Info.AC=68648;ExAC.Info.AN=126510;ExAC.Info.AF=0.543;ExAC.Info.AC_Het=50895;ExAC.Info.AC_Hom=8457;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.134T>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aTg;snpeff.Amino_Acid_Change=p.Lys45Met/c.134A>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344889;SAVANT_GENE=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.134A>T_p.Lys45Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T27+c.134A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248814052">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,18:69:99:300,0,1326:127	0|0:83,0:83:99:0,249,2438:127	1|0:62,26:88:99:528,0,1599:127
1	248814080	.	A	C	22508.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=279;MQ=37.88;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1782242;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1782242" target="_blank">rs1782242</a>;ExAC.Info.AC=124575;ExAC.Info.AN=126576;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=1988;ExAC.Info.AC_Hom=61217;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106A>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttg/Gtg;snpeff.Amino_Acid_Change=p.Leu36Val/c.106T>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344889;SAVANT_GENE=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.106T>G_p.Leu36Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T27+c.106T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248814080">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2714,240,0:127	1|1:0,86:86:99:2952,258,0:127	1|1:0,114:114:99:4118,346,0:127
1	248814126	.	G	A	8061.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=301;MQ=45.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs28418327;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28418327" target="_blank">rs28418327</a>;ExAC.Info.AC=72816;ExAC.Info.AN=126596;ExAC.Info.AF=0.575;ExAC.Info.AC_Het=48800;ExAC.Info.AC_Hom=11882;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.60G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn20Asn/c.60C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344889;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344889;SAVANT_GENE=OR2T27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2T27" target="_blank">OR2T27</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.60C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2T27+c.60C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248814126">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,32:85:99:669,0,1178:127	0/1:49,53:102:99:1248,0,1062:127	0/1:48,66:114:99:1564,0,943:127
1	248844959	.	T	C	10598.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55871516;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55871516" target="_blank">rs55871516</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=17730;ExAC.Info.AN=126704;ExAC.Info.AF=0.140;ExAC.Info.AC_Het=15044;ExAC.Info.AC_Hom=1342;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.647T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAt/tGt;snpeff.Amino_Acid_Change=p.Tyr216Cys/c.647A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342623;SAVANT_GENE=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.647A>G_p.Tyr216Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14I1+c.647A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248844959">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,57:128:99:1718,0,1918:127	1|0:60,72:132:99:2360,0,1776:127	0|0:129,0:129:99:0,387,4583:127
1	248845097	.	C	T	24497.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=493;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2000390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2000390" target="_blank">rs2000390</a>;ExAC.Info.AC=104680;ExAC.Info.AN=126704;ExAC.Info.AF=0.826;ExAC.Info.AC_Het=16605;ExAC.Info.AC_Hom=43958;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser170Asn/c.509G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342623;SAVANT_GENE=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.509G>A_p.Ser170Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14I1+c.509G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248845097">View</a>	GT:AD:DP:GQ:PL:TP	1|0:75,69:144:99:1967,0,2263:127	0|1:87,91:178:99:2681,0,2682:127	1|1:0,171:171:99:5889,513,0:127
1	248845356	.	G	T	7594.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41311583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41311583" target="_blank">rs41311583</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=17337;ExAC.Info.AN=126704;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=14767;ExAC.Info.AC_Hom=1269;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.250G>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Atg;snpeff.Amino_Acid_Change=p.Leu84Met/c.250C>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342623;SAVANT_GENE=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.250C>A_p.Leu84Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14I1+c.250C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248845356">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,58:120:99:1665,0,1761:127	1|0:54,51:105:99:1546,0,1690:127	0|0:106,1:107:99:0,311,3780:127
1	248845411	.	G	A	12554.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11485825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11485825" target="_blank">rs11485825</a>;ExAC.Info.AC=105425;ExAC.Info.AN=126702;ExAC.Info.AF=0.832;ExAC.Info.AC_Het=16589;ExAC.Info.AC_Hom=44382;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.195G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser65Ser/c.195C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342623;SAVANT_GENE=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.195C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14I1+c.195C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248845411">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,54:115:99:1601,0,1634:127	0|1:54,42:96:99:1331,0,1623:127	1|1:0,83:83:99:2971,249,0:127
1	248845458	.	C	T	10712.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4509608;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4509608" target="_blank">rs4509608</a>;ExAC.Info.AC=104734;ExAC.Info.AN=126704;ExAC.Info.AF=0.827;ExAC.Info.AC_Het=16255;ExAC.Info.AC_Hom=44216;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.148C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp50Asn/c.148G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342623;SAVANT_GENE=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.148G>A_p.Asp50Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14I1+c.148G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248845458">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,35:75:99:1007,0,1288:127	0|1:54,45:99:99:1324,0,1551:127	1|1:0,65:65:99:2432,195,0:127
1	248845471	.	T	C	21376.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4575113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4575113" target="_blank">rs4575113</a>;ExAC.Info.AC=121853;ExAC.Info.AN=126704;ExAC.Info.AF=0.962;ExAC.Info.AC_Het=3099;ExAC.Info.AC_Hom=59364;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala45Ala/c.135A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342623;SAVANT_GENE=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.135A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14I1+c.135A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248845471">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2836,213,0:127	1|1:0,91:91:99:3528,274,0:127	1|1:0,64:64:99:2849,193,0:127
1	248845499	.	A	G	18080.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4462184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4462184" target="_blank">rs4462184</a>;ExAC.Info.AC=123239;ExAC.Info.AN=126704;ExAC.Info.AF=0.973;ExAC.Info.AC_Het=2546;ExAC.Info.AC_Hom=60325;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.107A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val36Ala/c.107T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342623;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342623;SAVANT_GENE=OR14I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR14I1" target="_blank">OR14I1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.107T>C_p.Val36Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR14I1+c.107T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:248845499">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2265,210,0:127	1|1:0,90:90:99:3262,271,0:127	1|1:0,64:64:99:2178,192,0:127
1	249107414	.	T	C	175.0	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=17;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11205412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11205412" target="_blank">rs11205412</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.538-53A>G;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=SH3BP5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3BP5L" target="_blank">SH3BP5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366472;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.538T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=SH3BP5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3BP5L" target="_blank">SH3BP5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366472;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.538T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=SH3BP5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3BP5L" target="_blank">SH3BP5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366472;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.538T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=SH3BP5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3BP5L" target="_blank">SH3BP5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366472;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366472;SAVANT_GENE=SH3BP5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3BP5L" target="_blank">SH3BP5L</a>;SAVANT_INFO=-/16.2kb/7/3.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.538-53A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3BP5L+c.538-53A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:249107414">View</a>	GT:AD:DP:GQ:PL:TP	0|0:5,0:5:15:0,15,159:12	0|0:5,0:5:15:0,15,164:12	0|1:4,3:7:99:106,0,109:12
1	249120684	.	T	G	1428.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11205415;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11205415" target="_blank">rs11205415</a>;ExAC.Info.AC=750;ExAC.Info.AN=10610;ExAC.Info.AF=0.071;ExAC.Info.AC_Het=236;ExAC.Info.AC_Hom=96;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1550;snpeff.Amino_Acid_Change=c.-1082A>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=SH3BP5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3BP5L" target="_blank">SH3BP5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000366472;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000366472;SAVANT_GENE=SH3BP5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3BP5L" target="_blank">SH3BP5L</a>;SAVANT_INFO=-/16.2kb/7/3.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-1550A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3BP5L+c.-1550A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:249120684">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1461:127	0|0:63,0:63:99:0,189,2079:127	0|1:26,24:50:99:733,0,702:127
1	249145072	.	C	CA	411.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11434456;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11434456" target="_blank">rs11434456</a>;ExAC.Info.AC=16885;ExAC.Info.AN=88424;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=3189;ExAC.Info.AC_Hom=1150;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1169-92_1169-93insT;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=ZNF692;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF692" target="_blank">ZNF692</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000451251;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000451251;SAVANT_GENE=ZNF692;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF692" target="_blank">ZNF692</a>;SAVANT_INFO=-/8.8kb/12/2.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1169-93_1169-92insT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF692+c.1169-93_1169-92insT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:249145072">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1209:89	0|0:37,0:37:99:0,111,1480:89	0|1:11,7:18:99:229,0,391:89
1	249211350	.	T	C	5548.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=620;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34013644;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34013644" target="_blank">rs34013644</a>;ExAC.Info.AC=4609;ExAC.Info.AN=126704;ExAC.Info.AF=0.036;ExAC.Info.AC_Het=4412;ExAC.Info.AC_Hom=98;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser189Ser/c.567T>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=PGBD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGBD2" target="_blank">PGBD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329291;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329291;SAVANT_GENE=PGBD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGBD2" target="_blank">PGBD2</a>;SAVANT_INFO=+/12.3kb/3/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.567T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGBD2+c.567T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=1:249211350">View</a>	GT:AD:DP:GQ:PL:TP	0|0:182,0:182:99:0,546,5969:127	0|0:230,0:230:99:0,691,7619:127	0|1:112,96:208:99:2793,0,3171:127
10	282897	.	C	T	34538.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=458;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4600135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4600135" target="_blank">rs4600135</a>;ExAC.Info.AC=121018;ExAC.Info.AN=126626;ExAC.Info.AF=0.956;ExAC.Info.AC_Het=4889;ExAC.Info.AC_Hom=55642;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.516+42C>T;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=ZMYND11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND11" target="_blank">ZMYND11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381591;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Bromo];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517C>T;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=ZMYND11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND11" target="_blank">ZMYND11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381591;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Bromo];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517C>T;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=ZMYND11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND11" target="_blank">ZMYND11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381591;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Bromo];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517C>T;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=ZMYND11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND11" target="_blank">ZMYND11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381591;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Bromo];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.517C>T;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=ZMYND11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND11" target="_blank">ZMYND11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381591;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000558098:ENST00000397962;SAVANT_GENE=AL589988.1:ZMYND11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL5899881:ZMYND11" target="_blank">AL5899881:ZMYND11</a>;SAVANT_INFO=+/69.1kb/13/1.7kb:+/120.1kb/15/4.4kb;SAVANT_LOC=In4/5:In5/6;SAVANT_HGVS=c.516+42C>T:c.516+42C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL5899881:ZMYND11+c.516+42C>T:c.516+42C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:282897">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4271,388,0:127	1|1:0,148:148:99:5063,445,0:127	1|1:0,181:181:99:6087,543,0:127
10	294953	.	A	G	23456.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1017361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1017361" target="_blank">rs1017361</a>;ExAC.Info.AC=121864;ExAC.Info.AN=126704;ExAC.Info.AF=0.962;ExAC.Info.AC_Het=4556;ExAC.Info.AC_Hom=58642;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_human_adenovirus_E1A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1611A>G;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=ZMYND11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND11" target="_blank">ZMYND11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381591;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_human_adenovirus_E1A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1611A>G;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=ZMYND11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND11" target="_blank">ZMYND11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381591;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_human_adenovirus_E1A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1611A>G;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=ZMYND11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND11" target="_blank">ZMYND11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381591;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu537Glu/c.1611A>G;snpeff.Amino_Acid_length=602;snpeff.Gene_Name=ZMYND11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMYND11" target="_blank">ZMYND11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381591;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000558098:ENST00000397962;SAVANT_GENE=AL589988.1:ZMYND11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL5899881:ZMYND11" target="_blank">AL5899881:ZMYND11</a>;SAVANT_INFO=+/69.1kb/13/1.7kb:+/120.1kb/15/4.4kb;SAVANT_LOC=Ex13:Ex14;SAVANT_HGVS=c.1611A>G_p.=:c.1611A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL5899881:ZMYND11+c.1611A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:294953">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,94:95:99:3236,249,0:127	1|1:0,102:102:99:3515,306,0:127	1|1:0,100:100:99:3560,301,0:127
10	323283	.	A	G	4218.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=535;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3740304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740304" target="_blank">rs3740304</a>;ExAC.Info.AC=34229;ExAC.Info.AN=126700;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=24695;ExAC.Info.AC_Hom=4763;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr1551Tyr/c.4653T>C;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.4653T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.4653T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:323283">View</a>	GT:AD:DP:GQ:PL:TP	0|0:165,0:165:99:0,496,5639:127	0|0:204,0:204:99:0,613,7148:127	0|1:94,72:166:99:2128,0,2731:127
10	329182	.	TG	T	7193.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=242;MQ=70.11;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs66861796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66861796" target="_blank">rs66861796</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4294+29delC;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.4294+29delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.4294+29delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:329182">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,21:56:99:464,0,1406:127	0/1:52,64:116:99:1553,0,2008:127	0/1:29,41:70:99:1022,0,1078:127
10	329188	.	G	T	13241.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=264;MQ=70.11;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs45445697;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45445697" target="_blank">rs45445697</a>;ExAC.Info.AC=51208;ExAC.Info.AN=126652;ExAC.Info.AF=0.404;ExAC.Info.AC_Het=27362;ExAC.Info.AC_Hom=11768;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4294+24C>A;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.4294+24C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.4294+24C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:329188">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,37:61:99:1486,0,927:127	0/1:72,53:125:99:1994,0,2926:127	0/1:46,32:78:99:1118,0,1864:127
10	329191	.	GC	G	13228.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=276;MQ=70.10;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs371065533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371065533" target="_blank">rs371065533</a>;ExAC.Info.AC=51228;ExAC.Info.AN=126662;ExAC.Info.AF=0.404;ExAC.Info.AC_Het=27385;ExAC.Info.AC_Hom=11787;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4294+20delG;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.4294+20delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.4294+20delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:329191">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,38:64:99:1483,0,958:127	0/1:76,57:133:99:2021,0,2993:127	0/1:47,32:79:99:1118,0,1864:127
10	373048	.	T	C	2328.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2288681;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2288681" target="_blank">rs2288681</a>;ExAC.Info.AC=10915;ExAC.Info.AN=126700;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=9533;ExAC.Info.AC_Hom=673;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala1274Ala/c.3822A>G;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.3822A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.3822A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:373048">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,299,3234:127	0|0:118,0:118:99:0,354,3952:127	0|1:51,46:97:99:1183,0,1512:127
10	394714	.	G	A	46448.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=632;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4880610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4880610" target="_blank">rs4880610</a>;ExAC.Info.AC=125839;ExAC.Info.AN=126702;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=799;ExAC.Info.AC_Hom=62426;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3110-12C>T;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3110-12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.3110-12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:394714">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,211:211:99:6753,634,0:127	1|1:0,223:223:99:7377,670,0:127	1|1:0,198:198:99:6503,594,0:127
10	395266	.	T	C	18986.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4880611;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4880611" target="_blank">rs4880611</a>;ExAC.Info.AC=125452;ExAC.Info.AN=126242;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=719;ExAC.Info.AC_Hom=60975;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3109+5A>G;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3110A>G;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3109+5A>G;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.3109+5A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:395266">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2562,231,0:127	1|1:0,90:90:99:3157,270,0:127	1|1:0,64:64:99:2071,192,0:127
10	412449	.	A	G	9768.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1133113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1133113" target="_blank">rs1133113</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2132-98T>C;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2132-98T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.2132-98T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:412449">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1297,111,0:110	1|1:1,55:56:99:2061,129,0:110	1|0:15,20:35:99:648,0,405:110
10	428503	.	A	G	28317.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4881200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881200" target="_blank">rs4881200</a>;ExAC.Info.AC=112841;ExAC.Info.AN=113616;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=203;ExAC.Info.AC_Hom=18516;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1991+84T>C;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1991+84T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.1991+84T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:428503">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:3938,350,0:127	1|1:0,145:145:99:5099,436,0:127	1|1:0,99:99:99:3627,298,0:127
10	429903	.	GAA	G	5993.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=147;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1876+62_1876+63delTT;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1876+62_1876+63delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.1876+62_1876+63delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:429903">View</a>	GT:AD:DP:GQ:PL	./1:3,12:36:68:624,387,915	./1:1,22:48:99:985,520,1173	./1:8,25:63:99:951,497,1565
10	429903	.	GAA	GA	5993.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=147;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1876+62delT;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1876+63delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.1876+63delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:429903">View</a>	GT:AD:DP:GQ:PL	./1:3,21:36:68:624,101,68	./1:1,25:48:99:985,305,197	./1:8,30:63:99:951,186,184
10	429932	.	C	T	8671.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=358;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7092412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7092412" target="_blank">rs7092412</a>;ExAC.Info.AC=46125;ExAC.Info.AN=121320;ExAC.Info.AF=0.380;ExAC.Info.AC_Het=24329;ExAC.Info.AC_Hom=10162;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1876+35G>A;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1876+35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.1876+35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:429932">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,48:99:99:1437,0,1613:127	1|0:65,69:134:99:2078,0,1960:127	0|0:125,0:125:99:0,376,4456:127
10	429977	.	G	A	13190.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=549;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10904083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10904083" target="_blank">rs10904083</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=48538;ExAC.Info.AN=126694;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=29230;ExAC.Info.AC_Hom=9591;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly622Gly/c.1866C>T;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1866C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.1866C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:429977">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,96:158:99:2838,0,1555:127	1|0:102,105:207:99:2962,0,2963:127	0|0:184,0:184:99:0,551,6133:127
10	430105	.	A	G	8446.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=734;MQ=69.97;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72772859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72772859" target="_blank">rs72772859</a>;ExAC.Info.AC=1613;ExAC.Info.AN=126700;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1588;ExAC.Info.AC_Hom=12;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1757-19T>C;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1757-19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.1757-19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:430105">View</a>	GT:AD:DP:GQ:PL:TP	0|0:239,0:239:99:0,718,8035:127	0|1:150,147:297:99:4242,0,4165:127	0|0:198,0:198:99:0,595,6838:127
10	435880	.	G	C	10717.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4881219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881219" target="_blank">rs4881219</a>;ExAC.Info.AC=69607;ExAC.Info.AN=126374;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=29144;ExAC.Info.AC_Hom=18576;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1597+51C>G;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1597+51C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.1597+51C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:435880">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,49:90:99:1303,0,1197:127	0/1:74,60:134:99:1697,0,2140:127	0/1:55,54:109:99:1438,0,1699:127
10	436848	.	A	G	11003.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10904093;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10904093" target="_blank">rs10904093</a>;ExAC.Info.AC=49644;ExAC.Info.AN=126680;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=28740;ExAC.Info.AC_Hom=10214;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1261-45T>C;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1261-45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.1261-45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:436848">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,28:66:99:821,0,1075:127	0/1:54,72:126:99:2494,0,1442:127	0/1:42,34:76:99:1173,0,1268:127
10	445061	.	C	T	31937.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6560837;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6560837" target="_blank">rs6560837</a>;ExAC.Info.AC=125447;ExAC.Info.AN=126696;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=1185;ExAC.Info.AC_Hom=62019;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro416Pro/c.1248G>A;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1248G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.1248G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:445061">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3233,291,0:127	1|1:0,149:149:99:4987,447,0:127	1|1:0,122:122:99:4127,366,0:127
10	459820	.	G	A	1020.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=138;MQ=69.71;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61837163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61837163" target="_blank">rs61837163</a>;ExAC.Info.AC=3088;ExAC.Info.AN=126690;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=2897;ExAC.Info.AC_Hom=77;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1057+33C>T;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1057+33C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.1057+33C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:459820">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1492:127	0|0:55,0:55:99:0,165,1975:127	0|1:18,20:38:99:529,0,510:127
10	459940	.	G	A	7044.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4881274;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881274" target="_blank">rs4881274</a>;ExAC.Info.AC=74994;ExAC.Info.AN=126700;ExAC.Info.AF=0.592;ExAC.Info.AC_Het=30255;ExAC.Info.AC_Hom=22321;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu324Leu/c.970C>T;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.970C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.970C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:459940">View</a>	GT:AD:DP:GQ:PL:TP	0/1:40,33:73:99:954,0,1222:127	0/1:38,43:81:99:1237,0,1101:127	0/1:38,26:64:99:760,0,1223:127
10	468748	.	C	T	37876.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=489;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4881290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881290" target="_blank">rs4881290</a>;ExAC.Info.AC=125809;ExAC.Info.AN=126650;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=764;ExAC.Info.AC_Hom=62110;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.604+16G>A;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.604+16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.604+16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:468748">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,147:147:99:4779,441,0:127	1|1:0,187:187:99:6223,560,0:127	1|1:0,155:155:99:5264,466,0:127
10	518547	.	ACT	A	10314.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10610683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10610683" target="_blank">rs10610683</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.158-60_158-59delAG;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.158-60_158-59delAG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.158-60_158-59delAG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:518547">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,53:97:99:2068,0,1688:127	1|0:56,54:110:99:2099,0,2188:127	0|0:88,0:88:99:0,265,3935:127
10	687569	.	C	T	9073.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1631975;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1631975" target="_blank">rs1631975</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.85+47865G>A;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280886;SAVANT_GENE=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;SAVANT_INFO=-/415.5kb/37/7.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.85+47865G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DIP2C+c.85+47865G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:687569">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:906,81,0:104	1|1:0,47:47:99:1517,141,0:104	1|1:0,35:35:99:1073,105,0:104
10	696237	.	G	A	11803.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10904535;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10904535" target="_blank">rs10904535</a>;ExAC.Info.AC=17150;ExAC.Info.AN=21170;ExAC.Info.AF=0.810;ExAC.Info.AC_Het=1802;ExAC.Info.AC_Hom=6270;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.85+39197C>T;snpeff.Amino_Acid_length=1556;snpeff.Gene_Name=DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280886;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg25Arg/c.75G>A;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=PRR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DIP2C" target="_blank">DIP2C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441152;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441152:ENST00000280886;SAVANT_GENE=C10orf108:DIP2C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf108:DIP2C" target="_blank">C10orf108:DIP2C</a>;SAVANT_INFO=+/2.7kb/3/2.2kb:-/415.5kb/37/7.9kb;SAVANT_LOC=Ex2:In1/2;SAVANT_HGVS=c.75G>A_p.=:c.85+39197C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf108:DIP2C+c.75G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:696237">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1856,168,0:95	1|1:0,49:49:99:1796,147,0:95	1|1:0,32:32:96:1096,96,0:95
10	875287	.	T	G	5100.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs17159950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17159950" target="_blank">rs17159950</a>;ExAC.Info.AC=16496;ExAC.Info.AN=126262;ExAC.Info.AF=0.131;ExAC.Info.AC_Het=11136;ExAC.Info.AC_Hom=1046;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1125+38A>C;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=LARP4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LARP4B" target="_blank">LARP4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316157;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316157;SAVANT_GENE=LARP4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LARP4B" target="_blank">LARP4B</a>;SAVANT_INFO=-/76.2kb/17/5.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1125+38A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LARP4B+c.1125+38A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:875287">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:864,72,0:72	1|0:16,21:37:99:630,0,401:72	1|0:14,14:28:99:376,0,353:72
10	910225	.	A	G	16521.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs35968821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35968821" target="_blank">rs35968821</a>;ExAC.Info.AC=18198;ExAC.Info.AN=126692;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=15095;ExAC.Info.AC_Hom=1534;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.142-15T>C;snpeff.Amino_Acid_length=738;snpeff.Gene_Name=LARP4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LARP4B" target="_blank">LARP4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316157;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316157;SAVANT_GENE=LARP4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LARP4B" target="_blank">LARP4B</a>;SAVANT_INFO=-/76.2kb/17/5.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.142-15T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LARP4B+c.142-15T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:910225">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2560,219,0:127	1|0:59,54:113:99:1664,0,1708:127	1|0:49,50:99:99:1553,0,1393:127
10	1018585	.	T	G	24716.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=540;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4880745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4880745" target="_blank">rs4880745</a>;ExAC.Info.AC=10698;ExAC.Info.AN=20282;ExAC.Info.AF=0.527;ExAC.Info.AC_Het=4310;ExAC.Info.AC_Hom=2795;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cCt;snpeff.Amino_Acid_Change=p.His96Pro/c.287A>C;snpeff.Amino_Acid_length=143;snpeff.Gene_Name=AL359878.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3598781" target="_blank">AL3598781</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381466;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381466;SAVANT_GENE=AL359878.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3598781" target="_blank">AL3598781</a>;SAVANT_INFO=-/17.2kb/2/1.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.287A>C_p.His96Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3598781+c.287A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1018585">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,101:168:99:3094,0,1826:127	0|1:105,104:209:99:3197,0,3110:127	1|1:2,161:163:99:5607,409,0:127
10	1018673	.	A	C	11196.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=505;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72778238;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72778238" target="_blank">rs72778238</a>;ExAC.Info.AC=50;ExAC.Info.AN=21184;ExAC.Info.AF=2.360e-03;ExAC.Info.AC_Het=48;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Gca;snpeff.Amino_Acid_Change=p.Ser67Ala/c.199T>G;snpeff.Amino_Acid_length=143;snpeff.Gene_Name=AL359878.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3598781" target="_blank">AL3598781</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381466;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381466;SAVANT_GENE=AL359878.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3598781" target="_blank">AL3598781</a>;SAVANT_INFO=-/17.2kb/2/1.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.199T>G_p.Ser67Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3598781+c.199T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1018673">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,76:145:99:2301,0,1833:127	0|0:196,0:196:99:0,589,6878:127	1|0:79,85:164:99:2544,0,2248:127
10	1034412	.	C	T	4779.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12772979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12772979" target="_blank">rs12772979</a>;ExAC.Info.AC=15968;ExAC.Info.AN=126608;ExAC.Info.AF=0.126;ExAC.Info.AC_Het=13228;ExAC.Info.AC_Hom=1259;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.-8C>T;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360803;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360803;SAVANT_GENE=GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;SAVANT_INFO=+/31.5kb/17/4.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-8C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GTPBP4+c.-8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1034412">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,38:63:99:945,0,593:127	1|0:32,33:65:99:884,0,974:127	0|0:62,0:62:99:0,186,2107:127
10	1042023	.	A	AAAC	40401.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=403;MQ=71.18;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10665098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10665098" target="_blank">rs10665098</a>;ExAC.Info.AC=126076;ExAC.Info.AN=126358;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=233;ExAC.Info.AC_Hom=57309;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.324-22_324-21insAAC;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360803;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000360803;SAVANT_GENE=GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;SAVANT_INFO=+/31.5kb/17/4.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.324-23_324-22insAAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GTPBP4+c.324-23_324-22insAAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1042023">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,123:123:99:5644,395,0:127	1|1:0,145:145:99:6883,474,0:127	1|1:0,135:135:99:6271,438,0:127
10	1046712	.	G	A	16050.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2306409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306409" target="_blank">rs2306409</a>;ExAC.Info.AC=67760;ExAC.Info.AN=126676;ExAC.Info.AF=0.535;ExAC.Info.AC_Het=30796;ExAC.Info.AC_Hom=18194;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala250Ala/c.750G>A;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360803;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360803;SAVANT_GENE=GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;SAVANT_INFO=+/31.5kb/17/4.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.750G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GTPBP4+c.750G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1046712">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,56:126:99:1589,0,1969:127	0|1:67,59:126:99:1793,0,2025:127	1|1:0,96:96:99:3544,288,0:127
10	1054444	.	A	G	17539.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=829;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11253567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11253567" target="_blank">rs11253567</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1114-454A>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360803;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360803;SAVANT_GENE=GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;SAVANT_INFO=+/31.5kb/17/4.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1114-454A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GTPBP4+c.1114-454A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1054444">View</a>	GT:AD:DP:GQ:PL:TP	0|1:124,138:262:99:3544,0,3098:127	1|0:130,155:285:99:4062,0,3287:127	0|0:282,0:282:99:0,847,8986:127
10	1065457	.	T	A	776.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs41314629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41314629" target="_blank">rs41314629</a>;ExAC.Info.AC=4238;ExAC.Info.AN=126686;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=3855;ExAC.Info.AC_Hom=163;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2290;snpeff.Amino_Acid_Change=c.*2290T>A;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360803;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=stop_lost;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tgA/tgT;snpeff.Amino_Acid_Change=p.Ter228Cysext*?/c.684A>T;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=IDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277517;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277517:ENST00000360803;SAVANT_GENE=IDI2:GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2:GTPBP4" target="_blank">IDI2:GTPBP4</a>;SAVANT_INFO=-/7.0kb/5/1.4kb:+/31.5kb/17/4.7kb;SAVANT_LOC=Ex5:3UTR;SAVANT_HGVS=c.684A>T_p.X228CysextX23:c.*2290T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SL:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IDI2:GTPBP4+c.684A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1065457">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1116:80	0|0:27,0:27:81:0,81,1138:80	0|1:14,14:28:99:407,0,483:80
10	1065458	.	C	T	616.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17851563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17851563" target="_blank">rs17851563</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=3253;ExAC.Info.AN=126686;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=3094;ExAC.Info.AC_Hom=55;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2291;snpeff.Amino_Acid_Change=c.*2291C>T;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360803;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=stop_retained_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tGa/tAa;snpeff.Amino_Acid_Change=p.Ter228Ter/c.683G>A;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=IDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTPBP4" target="_blank">GTPBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277517;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277517:ENST00000360803;SAVANT_GENE=IDI2:GTPBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2:GTPBP4" target="_blank">IDI2:GTPBP4</a>;SAVANT_INFO=-/7.0kb/5/1.4kb:+/31.5kb/17/4.7kb;SAVANT_LOC=Ex5:3UTR;SAVANT_HGVS=c.683G>A_p.=:c.*2291C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IDI2:GTPBP4+c.683G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1065458">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1200:83	0|1:16,12:28:99:327,0,573:83	0|0:28,0:28:84:0,84,1202:83
10	1070710	.	C	G	9709.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12357207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12357207" target="_blank">rs12357207</a>;ExAC.Info.AC=35159;ExAC.Info.AN=126678;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=24703;ExAC.Info.AC_Hom=5167;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-21-26G>C;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=IDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2" target="_blank">IDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277517;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.116+1987C>G;snpeff.Gene_Name=IDI2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2" target="_blank">IDI2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428780;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277517;SAVANT_GENE=IDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2" target="_blank">IDI2</a>;SAVANT_INFO=-/7.0kb/5/1.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-47G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IDI2+c.-47G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1070710">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,41:106:99:1076,0,1911:127	0|0:166,0:166:99:0,499,6024:127	1|0:54,59:113:99:1686,0,1584:127
10	1081791	.	G	GCCTGGCCCA	3265.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs146706331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146706331" target="_blank">rs146706331</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.155_156insCCTGGCCCA;snpeff.Gene_Name=IDI2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2-AS1" target="_blank">IDI2-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428780;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2-AS1" target="_blank">IDI2-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=IDI2-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1081791">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,390,6942:127	0|1:78,41:119:99:1656,0,4025:127	0|0:104,0:104:99:0,318,5505:127
10	1081882	.	T	C	13537.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=647;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7075695;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7075695" target="_blank">rs7075695</a>;ExAC.Info.AC=4291;ExAC.Info.AN=27518;ExAC.Info.AF=0.156;ExAC.Info.AC_Het=2668;ExAC.Info.AC_Hom=371;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.245T>C;snpeff.Gene_Name=IDI2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2-AS1" target="_blank">IDI2-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428780;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2-AS1" target="_blank">IDI2-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=IDI2-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1081882">View</a>	GT:AD:DP:GQ:PL:TP	1|0:105,92:197:99:2290,0,2954:127	0|0:253,0:253:99:0,759,8190:127	1|0:93,104:197:99:2749,0,2682:127
10	1089616	.	T	C	13341.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11250238;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11250238" target="_blank">rs11250238</a>;ExAC.Info.AC=19948;ExAC.Info.AN=23450;ExAC.Info.AF=0.851;ExAC.Info.AC_Het=1521;ExAC.Info.AC_Hom=5552;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.532T>C;snpeff.Gene_Name=IDI2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2-AS1" target="_blank">IDI2-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428780;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.314-283A>G;snpeff.Amino_Acid_length=284;snpeff.Gene_Name=IDI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2-AS1" target="_blank">IDI2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381344;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314T>C;snpeff.Amino_Acid_length=284;snpeff.Gene_Name=IDI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2-AS1" target="_blank">IDI2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381344;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314T>C;snpeff.Amino_Acid_length=284;snpeff.Gene_Name=IDI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI2-AS1" target="_blank">IDI2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381344;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381344;SAVANT_GENE=IDI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDI1" target="_blank">IDI1</a>;SAVANT_INFO=-/9.3kb/5/2.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.314-283A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IDI1+c.314-283A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1089616">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1475,117,0:127	1|1:0,55:55:99:2063,165,0:127	1|1:0,45:45:99:1728,135,0:127
10	1126293	.	T	C	3861.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7087381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7087381" target="_blank">rs7087381</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.332-59T>C;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=WDR37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR37" target="_blank">WDR37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263150;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358220;SAVANT_GENE=WDR37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR37" target="_blank">WDR37</a>;SAVANT_INFO=+/82.8kb/14/4.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.332-59T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR37+c.332-59T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1126293">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,19:36:99:552,0,498:104	0|0:44,0:44:99:0,132,1613:104	1|1:0,35:35:99:1226,105,0:104
10	1142208	.	T	C	22821.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs10794716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794716" target="_blank">rs10794716</a>;ExAC.Info.AC=126341;ExAC.Info.AN=126704;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=352;ExAC.Info.AC_Hom=62987;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.726+22T>C;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=WDR37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR37" target="_blank">WDR37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263150;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358220;SAVANT_GENE=WDR37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR37" target="_blank">WDR37</a>;SAVANT_INFO=+/82.8kb/14/4.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.726+22T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR37+c.726+22T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1142208">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3046,288,0:127	1|1:0,103:103:99:3494,310,0:127	1|1:0,80:80:99:2734,240,0:127
10	1170304	.	C	G	9732.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=461;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7916430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7916430" target="_blank">rs7916430</a>;ExAC.Info.AC=19765;ExAC.Info.AN=126702;ExAC.Info.AF=0.156;ExAC.Info.AC_Het=16232;ExAC.Info.AC_Hom=1759;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1238+12C>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=WDR37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR37" target="_blank">WDR37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263150;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1239C>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=WDR37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR37" target="_blank">WDR37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263150;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1239C>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=WDR37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR37" target="_blank">WDR37</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263150;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358220;SAVANT_GENE=WDR37;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR37" target="_blank">WDR37</a>;SAVANT_INFO=+/82.8kb/14/4.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1238+12C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR37+c.1238+12C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1170304">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,73:142:99:2116,0,1857:127	0|0:172,0:172:99:0,516,5911:127	1|0:77,70:147:99:2027,0,2218:127
10	1232500	.	G	A	1640.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7924253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7924253" target="_blank">rs7924253</a>;ExAC.Info.AC=20639;ExAC.Info.AN=119658;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=15994;ExAC.Info.AC_Hom=2173;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1865-1521C>T;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1865G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1865G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1865G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1865G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1865G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1865G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381312;SAVANT_GENE=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;SAVANT_INFO=-/551.6kb/10/3.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1865-1521C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADARB2+c.1865-1521C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1232500">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1116:99	0|1:28,31:59:99:839,0,768:99	0|0:56,0:56:99:0,168,1809:99
10	1263076	.	C	T	1836.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3750677;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750677" target="_blank">rs3750677</a>;ExAC.Info.AC=39240;ExAC.Info.AN=124148;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=15262;ExAC.Info.AC_Hom=3914;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1514-17G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514C>T;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514C>T;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514C>T;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514C>T;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514C>T;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:A_to_I_editase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1514C>T;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381312;SAVANT_GENE=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;SAVANT_INFO=-/551.6kb/10/3.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1514-17G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADARB2+c.1514-17G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1263076">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,1888:127	0|0:74,0:74:99:0,222,2527:127	0|1:18,32:50:99:937,0,445:127
10	1779349	.	G	A	5187.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3750684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750684" target="_blank">rs3750684</a>;ExAC.Info.AC=63153;ExAC.Info.AN=126468;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=29529;ExAC.Info.AC_Hom=16344;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=5;snpeff.Amino_Acid_Change=c.-5C>T;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381312;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381312;SAVANT_GENE=ADARB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADARB2" target="_blank">ADARB2</a>;SAVANT_INFO=-/551.6kb/10/3.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-5C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADARB2+c.-5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:1779349">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,14:36:99:333,0,605:127	0/1:27,34:61:99:996,0,684:127	0/1:16,25:41:99:752,0,448:127
10	3124516	.	G	A	13703.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4881074;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881074" target="_blank">rs4881074</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.113-64G>A;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.113-64G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.113-64G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3124516">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2169,192,0:127	1|0:37,37:74:99:1066,0,1116:127	1|1:0,66:66:99:2253,198,0:127
10	3143054	.	CAAAAA	C	2455.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=87;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.265-502_265-498delAAAAA;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.265-487_265-483del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.265-487_265-483del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3143054">View</a>	GT:AD:DP:GQ:PL	./0:14,1:22:99:148,218,1315	0/1:11,26:44:99:824,0,603	./0:10,4:21:98:162,98,1020
10	3143054	.	CAAAAA	CAAA	2455.29	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=87;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.265-499_265-498delAA;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.265-484_265-483delAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.265-484_265-483delAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3143054">View</a>	GT:AD:DP:GQ:PL	0/1:14,7:22:99:148,0,268	./0:11,7:44:99:824,662,896	0/1:10,7:21:98:162,0,238
10	3143643	.	A	C	14231.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4881080;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881080" target="_blank">rs4881080</a>;ExAC.Info.AC=126024;ExAC.Info.AN=126098;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=39;ExAC.Info.AC_Hom=58964;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgC;snpeff.Amino_Acid_Change=p.Arg117Arg/c.351A>C;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.351A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.351A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3143643">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:1823,174,0:127	1|1:0,71:71:99:2460,213,0:127	1|1:0,53:53:99:1868,159,0:127
10	3146155	.	C	G	7396.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2306293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306293" target="_blank">rs2306293</a>;ExAC.Info.AC=25524;ExAC.Info.AN=126546;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=19530;ExAC.Info.AC_Hom=2604;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.620+19C>G;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.620+19C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.620+19C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3146155">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,38:74:99:1049,0,1119:127	1|0:44,58:102:99:1787,0,1266:127	0|0:71,0:71:99:0,213,2495:127
10	3147244	.	G	A	8881.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=503;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72778587;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72778587" target="_blank">rs72778587</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.621-63G>A;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.621-63G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.621-63G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3147244">View</a>	GT:AD:DP:GQ:PL:TP	1|0:84,62:146:99:1684,0,2296:127	0|0:213,0:213:99:0,638,7133:127	1|0:88,56:144:99:1558,0,2471:127
10	3149402	.	A	G	29731.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10903967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10903967" target="_blank">rs10903967</a>;ExAC.Info.AC=77988;ExAC.Info.AN=126562;ExAC.Info.AF=0.616;ExAC.Info.AC_Het=28103;ExAC.Info.AC_Hom=24578;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.775-4A>G;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775A>G;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.775-4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.775-4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3149402">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4078,367,0:127	1|1:0,134:134:99:4601,403,0:127	1|1:0,130:130:99:4476,391,0:127
10	3154339	.	C	T	18558.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2306301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306301" target="_blank">rs2306301</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1090-75C>T;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1090-75C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1090-75C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3154339">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2541,222,0:127	1|1:0,73:73:99:2666,220,0:127	1|1:0,72:72:99:2521,216,0:127
10	3155217	.	T	C	13024.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6602023;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6602023" target="_blank">rs6602023</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1155-94T>C;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1155-94T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1155-94T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3155217">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1437,120,0:127	1|1:0,56:56:99:2035,168,0:127	1|1:0,43:43:99:1436,129,0:127
10	3155237	.	A	G	15223.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6602024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6602024" target="_blank">rs6602024</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1155-74A>G;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1155-74A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1155-74A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3155237">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1834,165,0:127	1|1:0,69:69:99:2353,207,0:127	1|1:0,49:49:99:1610,147,0:127
10	3155263	.	T	C	19424.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7906901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7906901" target="_blank">rs7906901</a>;ExAC.Info.AC=110064;ExAC.Info.AN=125316;ExAC.Info.AF=0.878;ExAC.Info.AC_Het=8341;ExAC.Info.AC_Hom=34149;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1155-48T>C;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1155-48T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1155-48T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3155263">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2430,210,0:127	1|1:2,87:89:99:3059,218,0:127	1|1:0,55:55:99:1913,165,0:127
10	3155540	.	A	G	25765.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4881085;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881085" target="_blank">rs4881085</a>;ExAC.Info.AC=112153;ExAC.Info.AN=126198;ExAC.Info.AF=0.889;ExAC.Info.AC_Het=11053;ExAC.Info.AC_Hom=46321;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1225-24A>G;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1225-24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1225-24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3155540">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3410,318,0:127	1|1:0,112:112:99:3872,336,0:127	1|1:0,87:87:99:2820,261,0:127
10	3155620	.	A	G	26757.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1052309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052309" target="_blank">rs1052309</a>;ExAC.Info.AC=78026;ExAC.Info.AN=126546;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=28196;ExAC.Info.AC_Hom=24018;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala427Ala/c.1281A>G;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1281A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1281A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3155620">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3134,285,0:127	1|1:0,118:118:99:3997,355,0:127	1|1:0,101:101:99:3219,303,0:127
10	3161131	.	C	T	12725.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3829914;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829914" target="_blank">rs3829914</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1530+70C>T;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1530+70C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1530+70C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3161131">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:1977,180,0:127	1|0:38,33:71:99:866,0,1243:127	1|1:0,59:59:99:1952,177,0:127
10	3161148	.	G	C	746.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3829915;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829915" target="_blank">rs3829915</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1530+87G>C;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1530+87G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1530+87G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3161148">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1514:125	0|0:58,0:58:99:0,174,2088:125	0|1:33,14:47:99:392,0,908:125
10	3167465	.	A	G	19148.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3816703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3816703" target="_blank">rs3816703</a>;ExAC.Info.AC=78730;ExAC.Info.AN=118102;ExAC.Info.AF=0.667;ExAC.Info.AC_Het=20744;ExAC.Info.AC_Hom=21237;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1684-4546A>G;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1684-4546A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1684-4546A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3167465">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3411,303,0:127	1|0:58,48:106:99:1210,0,1557:127	1|1:0,89:89:99:3010,267,0:127
10	3172121	.	C	T	10775.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1052333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052333" target="_blank">rs1052333</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=47837;ExAC.Info.AN=126554;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=29167;ExAC.Info.AC_Hom=9019;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala598Ala/c.1794C>T;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1794C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1794C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3172121">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,53:117:99:1500,0,1835:127	1|0:82,76:158:99:2118,0,2335:127	0|0:115,0:115:99:0,345,3900:127
10	3172145	.	C	T	10227.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1052337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052337" target="_blank">rs1052337</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=16327;ExAC.Info.AN=126600;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=13563;ExAC.Info.AC_Hom=1143;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe606Phe/c.1818C>T;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1818C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1818C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3172145">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,49:113:99:1348,0,1809:127	1|0:89,71:160:99:2035,0,2531:127	0|0:117,0:117:99:0,351,4155:127
10	3174499	.	G	GC	3418.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3830217;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3830217" target="_blank">rs3830217</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1849-72_1849-71insC;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1849-71dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.1849-71dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3174499">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,12:30:99:320,0,541:89	0|0:32,0:32:96:0,96,1142:89	1|1:0,29:29:90:1061,90,0:89
10	3175541	.	C	A	2795.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3740613;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740613" target="_blank">rs3740613</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2022+35C>A;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2022+35C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.2022+35C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3175541">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,26:37:99:698,0,261:127	1|0:43,19:62:99:485,0,1314:127	0|0:56,0:56:99:0,168,1779:127
10	3176611	.	TTTCTATTTA	T	2430.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=110;MQ=68.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs200439920;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200439920" target="_blank">rs200439920</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2023-63_2023-55delTTCTATTTA;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2023-63_2023-55del9;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.2023-63_2023-55del9+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3176611">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,9:29:99:315,0,968:114	1|0:26,17:43:99:675,0,1525:114	0|0:38,0:38:99:0,114,2214:114
10	3176625	.	C	T	2546.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=118;MQ=69.04;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs375079219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=375079219" target="_blank">rs375079219</a>;ExAC.Info.AC=15332;ExAC.Info.AN=126508;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=13231;ExAC.Info.AC_Hom=937;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2023-50C>T;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2023-50C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.2023-50C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3176625">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,10:33:99:348,0,1205:123	1|0:29,17:46:99:701,0,1902:123	0|0:39,0:39:99:0,123,2504:123
10	3176627	.	A	AC	2743.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=125;MQ=69.09;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=15313;ExAC.Info.AN=126506;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=13241;ExAC.Info.AC_Hom=943;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2023-47_2023-46insC;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2023-48_2023-47insC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.2023-48_2023-47insC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3176627">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,10:34:99:345,0,1247:125	1|0:32,18:50:99:785,0,1896:125	0|0:41,0:41:99:0,126,2573:125
10	3176629	.	G	C	2867.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=129;MQ=69.12;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=15306;ExAC.Info.AN=126506;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=13256;ExAC.Info.AC_Hom=942;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2023-46G>C;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2023-46G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.2023-46G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3176629">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,10:35:99:381,0,1328:127	1|0:32,20:52:99:827,0,1893:127	0|0:42,0:42:99:0,132,2663:127
10	3176630	.	TG	T	3016.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=69.15;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=15313;ExAC.Info.AN=126664;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=13267;ExAC.Info.AC_Hom=949;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2023-44delG;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2023-44delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.2023-44delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3176630">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,11:38:99:378,0,1370:127	1|0:32,21:53:99:908,0,1929:127	0|0:44,0:44:99:0,132,2663:127
10	3176634	.	A	G	3047.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=143;MQ=69.19;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=15316;ExAC.Info.AN=126492;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=13280;ExAC.Info.AC_Hom=954;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2023-41A>G;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2023-41A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.2023-41A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3176634">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,11:39:99:375,0,1412:127	1|0:35,23:58:99:857,0,2058:127	0|0:46,0:46:99:0,148,2888:127
10	3176638	.	T	TTAAATAGAA	3445.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=69.23;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs147431012;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147431012" target="_blank">rs147431012</a>;ExAC.Info.AC=15304;ExAC.Info.AN=126496;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=13288;ExAC.Info.AC_Hom=954;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2023-36_2023-35insTAAATAGAA;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2023-37_2023-36insTAAATAGAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.2023-37_2023-36insTAAATAGAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3176638">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,11:40:99:375,0,1412:127	1|0:36,23:59:99:983,0,2049:127	0|0:50,0:50:99:0,150,2872:127
10	3177876	.	C	G	7628.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2306317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306317" target="_blank">rs2306317</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2123-52C>G;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2123-52C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.2123-52C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3177876">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,32:69:99:1425,0,2463:127	1|0:48,45:93:99:1860,0,3152:127	0|0:76,0:76:99:0,229,5262:127
10	3177878	.	C	T	7628.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2306318;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306318" target="_blank">rs2306318</a>;ExAC.Info.AC=15254;ExAC.Info.AN=126378;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=11428;ExAC.Info.AC_Hom=863;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2123-50C>T;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2123-50C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.2123-50C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3177878">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,38:78:99:1425,0,2463:127	1|0:50,49:99:99:1860,0,3152:127	0|0:73,0:73:99:0,229,5262:127
10	3178814	.	T	A	2736.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1052929;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052929" target="_blank">rs1052929</a>;ExAC.Info.AC=15844;ExAC.Info.AN=126482;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=12973;ExAC.Info.AC_Hom=1024;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=43;snpeff.Amino_Acid_Change=c.*43T>A;snpeff.Amino_Acid_length=784;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381125;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381125;SAVANT_GENE=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=+/69.3kb/22/2.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*43T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+c.*43T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3178814">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,16:31:99:483,0,474:110	1|0:23,22:45:99:617,0,644:110	0|0:37,0:37:99:0,111,1330:110
10	3179663	.	G	A	4803.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=109;MQ=70.04;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11251744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11251744" target="_blank">rs11251744</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3179663">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,22:32:99:672,0,244:104	0|0:42,0:42:99:0,126,1528:104	1|1:0,35:35:99:1197,105,0:104
10	3179703	.	C	T	5248.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4881107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881107" target="_blank">rs4881107</a>;ExAC.Info.AC=45328;ExAC.Info.AN=118570;ExAC.Info.AF=0.382;ExAC.Info.AC_Het=24612;ExAC.Info.AC_Hom=5998;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3179703">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,20:57:99:766,0,1480:127	1|0:42,28:70:99:1028,0,1775:127	0|0:61,0:61:99:0,190,2767:127
10	3179708	.	A	G	5225.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4881108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881108" target="_blank">rs4881108</a>;ExAC.Info.AC=45326;ExAC.Info.AN=118498;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=25807;ExAC.Info.AC_Hom=6880;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3179708">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,22:61:99:801,0,1535:127	1|0:47,27:74:99:972,0,1856:127	0|0:63,0:63:99:0,190,2801:127
10	3179842	.	C	T	9889.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2306319;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306319" target="_blank">rs2306319</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PFKP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKP" target="_blank">PFKP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3179842">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,42:88:99:1235,0,1269:127	0|0:121,0:121:99:0,364,4221:127	1|1:2,82:84:99:2843,203,0:127
10	3180227	.	T	C	9061.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6901" target="_blank">rs6901</a>;ExAC.Info.AC=85577;ExAC.Info.AN=124432;ExAC.Info.AF=0.688;ExAC.Info.AC_Het=22434;ExAC.Info.AC_Hom=25629;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln1038Arg/c.3113A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3113A>G_p.Gln1038Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.3113A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3180227">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1052,87,0:86	1|0:30,28:58:99:776,0,864:86	1|1:0,37:37:99:1393,111,0:86
10	3180316	.	T	C	4331.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11414;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11414" target="_blank">rs11414</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=73663;ExAC.Info.AN=125066;ExAC.Info.AF=0.589;ExAC.Info.AC_Het=27781;ExAC.Info.AC_Hom=20091;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3024T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3024T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg1008Arg/c.3024A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3024A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3024A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.3024A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3180316">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,27:59:99:713,0,824:127	1|0:34,31:65:99:896,0,971:127	0|0:79,0:79:99:0,237,2634:127
10	3180343	.	A	G	4539.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2388559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2388559" target="_blank">rs2388559</a>;ExAC.Info.AC=52965;ExAC.Info.AN=125060;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=27435;ExAC.Info.AC_Hom=10206;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3024-27T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3024A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3024A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3024-27T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.3024-27T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3180343">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,29:56:99:798,0,707:127	1|0:29,30:59:99:890,0,863:127	0|0:82,0:82:99:0,245,2588:127
10	3181282	.	G	A	23798.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2279220;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2279220" target="_blank">rs2279220</a>;ExAC.Info.AC=86562;ExAC.Info.AN=124782;ExAC.Info.AF=0.694;ExAC.Info.AC_Het=26128;ExAC.Info.AC_Hom=30070;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2775-41C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2775G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2775G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.2775-41C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.2775-41C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3181282">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4227,388,0:127	1|0:59,67:126:99:1953,0,1681:127	1|1:0,121:121:99:4152,364,0:127
10	3183747	.	A	G	19583.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7094698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7094698" target="_blank">rs7094698</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2649-743T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2649A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2649A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2649-743T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.2649-743T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3183747">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3175,282,0:127	1|0:94,58:152:99:1461,0,2791:127	1|1:0,108:108:99:3452,324,0:127
10	3186458	.	C	G	5728.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3752803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3752803" target="_blank">rs3752803</a>;ExAC.Info.AC=39770;ExAC.Info.AN=96072;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=6359;ExAC.Info.AC_Hom=3631;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.171+280C>G;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000430356;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2535+26G>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2535+26G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.2535+26G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3186458">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,36:63:99:1171,0,833:116	0|0:64,0:64:99:0,192,2272:116	1|1:0,39:39:99:1474,117,0:116
10	3187924	.	T	C	1342.89	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=28;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3758631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758631" target="_blank">rs3758631</a>;ExAC.Info.AC=50732;ExAC.Info.AN=84784;ExAC.Info.AF=0.598;ExAC.Info.AC_Het=5923;ExAC.Info.AC_Hom=6264;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.933T>C;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000430356;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2340-16A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2340T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2340T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2340-16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.2340-16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3187924">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,5:5:15:162,15,0:14	1|0:7,1:8:14:14,0,195:14	1|1:0,15:15:45:433,45,0:14
10	3189380	.	C	T	9213.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740607" target="_blank">rs3740607</a>;ExAC.Info.AC=65179;ExAC.Info.AN=124898;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=30360;ExAC.Info.AC_Hom=17380;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2389C>T;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000430356;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2301C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro767Pro/c.2301G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2301G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.2301G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3189380">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,44:116:99:1032,0,1877:127	0|0:123,0:123:99:0,370,4207:127	1|1:0,80:80:99:2694,240,0:127
10	3190265	.	A	G	15513.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=474;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4881111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881111" target="_blank">rs4881111</a>;ExAC.Info.AC=62780;ExAC.Info.AN=125024;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=30641;ExAC.Info.AC_Hom=16018;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3274A>G;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000430356;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1996-10T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1996-10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.1996-10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3190265">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,58:137:99:1590,0,2206:127	0|0:203,0:203:99:0,610,6852:127	1|1:0,134:134:99:4571,403,0:127
10	3190298	.	C	T	12989.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4881112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881112" target="_blank">rs4881112</a>;ExAC.Info.AC=61781;ExAC.Info.AN=125066;ExAC.Info.AF=0.494;ExAC.Info.AC_Het=30676;ExAC.Info.AC_Hom=15516;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3307C>T;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000430356;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1996-43G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1996-43G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.1996-43G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3190298">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,43:109:99:1178,0,1839:127	0|0:155,0:155:99:0,466,5236:127	1|1:0,106:106:99:3670,319,0:127
10	3191823	.	C	T	2285.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2388556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2388556" target="_blank">rs2388556</a>;ExAC.Info.AC=17936;ExAC.Info.AN=125166;ExAC.Info.AF=0.143;ExAC.Info.AC_Het=14840;ExAC.Info.AC_Hom=1448;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1861C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val621Ile/c.1861G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1861G>A_p.Val621Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.1861G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3191823">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,23:36:99:691,0,291:99	1|0:13,18:31:99:498,0,354:99	0|0:33,0:33:99:0,99,1123:99
10	3200292	.	G	A	12473.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3182535;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3182535" target="_blank">rs3182535</a>;ExAC.Info.AC=82172;ExAC.Info.AN=124822;ExAC.Info.AF=0.658;ExAC.Info.AC_Het=27416;ExAC.Info.AC_Hom=27305;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1190G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala397Val/c.1190C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1190C>T_p.Ala397Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.1190C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3200292">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2046,189,0:127	1|0:51,36:87:99:931,0,1403:127	1|1:0,54:54:99:1804,162,0:127
10	3201097	.	T	C	16936.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3814594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814594" target="_blank">rs3814594</a>;ExAC.Info.AC=81370;ExAC.Info.AN=124884;ExAC.Info.AF=0.652;ExAC.Info.AC_Het=27491;ExAC.Info.AC_Hom=26887;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1136+9A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1136+9A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.1136+9A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3201097">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2090,168,0:127	1|0:41,47:88:99:1419,0,1257:127	1|1:0,60:60:99:2329,180,0:127
10	3202065	.	T	C	26130.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4242746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4242746" target="_blank">rs4242746</a>;ExAC.Info.AC=78525;ExAC.Info.AN=124556;ExAC.Info.AF=0.630;ExAC.Info.AC_Het=25506;ExAC.Info.AC_Hom=22512;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.982T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile328Val/c.982A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.982A>G_p.Ile328Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.982A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3202065">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4405,373,0:127	1|0:80,78:158:99:2322,0,2351:127	1|1:0,121:121:99:4409,364,0:127
10	3202140	.	C	T	34439.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=557;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4242747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4242747" target="_blank">rs4242747</a>;ExAC.Info.AC=71253;ExAC.Info.AN=122686;ExAC.Info.AF=0.581;ExAC.Info.AC_Het=18927;ExAC.Info.AC_Hom=14586;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.919-12G>A;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.919-12G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.919-12G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3202140">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,180:180:99:5809,540,0:127	1|0:114,94:208:99:2835,0,3329:127	1|1:0,169:169:99:5659,508,0:127
10	3206027	.	A	G	6661.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4609511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4609511" target="_blank">rs4609511</a>;ExAC.Info.AC=82771;ExAC.Info.AN=124874;ExAC.Info.AF=0.663;ExAC.Info.AC_Het=27172;ExAC.Info.AC_Hom=27752;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro227Pro/c.681T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.681T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.681T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3206027">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1247,108,0:83	1|0:22,24:46:99:795,0,670:83	1|1:0,28:28:84:948,84,0:83
10	3207632	.	A	G	10893.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=502;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3814596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814596" target="_blank">rs3814596</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=21004;ExAC.Info.AN=124866;ExAC.Info.AF=0.168;ExAC.Info.AC_Het=17069;ExAC.Info.AC_Hom=1899;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tCc;snpeff.Amino_Acid_Change=p.Phe169Ser/c.506T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.506T>C_p.Phe169Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.506T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3207632">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,73:150:99:2003,0,1942:127	1|0:112,84:196:99:2391,0,3005:127	0|0:156,0:156:99:0,469,5162:127
10	3208557	.	A	G	7403.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=109;MQ=69.77;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs12359035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12359035" target="_blank">rs12359035</a>;ExAC.Info.AC=83807;ExAC.Info.AN=125054;ExAC.Info.AF=0.670;ExAC.Info.AC_Het=26887;ExAC.Info.AC_Hom=28302;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr94Thr/c.282T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.282T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.282T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3208557">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1123,93,0:92	1|0:21,22:43:99:622,0,574:92	1|1:0,35:35:99:1281,105,0:92
10	3208581	.	G	GA	2588.73	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=40;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs58131139;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58131139" target="_blank">rs58131139</a>;ExAC.Info.AC=77343;ExAC.Info.AN=124996;ExAC.Info.AF=0.619;ExAC.Info.AC_Het=30005;ExAC.Info.AC_Hom=19538;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PITRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.267-9_267-10insT;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267_268insA;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267_268insA;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1-AS1" target="_blank">PITRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.267-10_267-9insT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.267-10_267-9insT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3208581">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,9:9:26:309,26,0:24	1|0:12,10:22:99:280,0,654:24	1|1:0,9:9:30:369,30,0:24
10	3214369	.	A	G	7167.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs4880599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4880599" target="_blank">rs4880599</a>;ExAC.Info.AC=10279;ExAC.Info.AN=15582;ExAC.Info.AF=0.660;ExAC.Info.AC_Het=2981;ExAC.Info.AC_Hom=3203;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.56+540T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.56+540T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.56+540T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3214369">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:1073,84,0:84	1|0:19,22:41:99:812,0,573:84	1|0:8,13:21:99:490,0,244:84
10	3214516	.	A	G	13977.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs4881118;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881118" target="_blank">rs4881118</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.56+393T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.56+393T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.56+393T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3214516">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2812,246,0:127	1|0:54,45:99:99:1318,0,1477:127	1|0:32,34:66:99:988,0,806:127
10	3214995	.	AC	A	13704.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=253;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs34460808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34460808" target="_blank">rs34460808</a>;ExAC.Info.AC=31048;ExAC.Info.AN=56072;ExAC.Info.AF=0.554;ExAC.Info.AC_Het=3343;ExAC.Info.AC_Hom=3670;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=32;snpeff.Amino_Acid_Change=c.-32delG;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380989;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000380989;SAVANT_GENE=PITRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITRM1" target="_blank">PITRM1</a>;SAVANT_INFO=-/35.1kb/27/3.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-32delG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITRM1+c.-32delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:3214995">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2217,227,0:127	1|0:41,44:85:99:960,0,1091:127	1|0:47,45:92:99:1081,0,1257:127
10	4240906	.	A	C	6550.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=739;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72776570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72776570" target="_blank">rs72776570</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72776570" target="_blank">rs72776570</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:4240906">View</a>	GT:AD:DP:GQ:PL:TP	0|0:240,2:242:99:0,677,7953:127	0|1:152,119:271:99:3294,0,4329:127	0|0:226,0:226:99:0,679,7798:127
10	4868445	.	G	T	8545.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2924275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2924275" target="_blank">rs2924275</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1E2" target="_blank">AKR1E2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=upstream_gene_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=AKR1E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1E2" target="_blank">AKR1E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298375;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1E2" target="_blank">AKR1E2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1E2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:4868445">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1071,90,0:77	1|1:0,33:33:99:1214,99,0:77	1|1:0,26:26:78:999,78,0:77
10	4877814	.	T	TTTTTG	4164.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs150127444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150127444" target="_blank">rs150127444</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.325-52_325-51insTTTTG;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=AKR1E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1E2" target="_blank">AKR1E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298375;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000298375;SAVANT_GENE=AKR1E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1E2" target="_blank">AKR1E2</a>;SAVANT_INFO=+/21.8kb/10/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.325-33_325-29dup5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1E2+c.325-33_325-29dup5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:4877814">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,12:28:99:490,0,932:86	1|1:0,28:28:87:1302,87,0:86	0|0:35,0:35:99:0,106,2245:86
10	4884784	.	T	C	22763.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2924269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2924269" target="_blank">rs2924269</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.837+88T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=AKR1E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1E2" target="_blank">AKR1E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298375;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298375;SAVANT_GENE=AKR1E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1E2" target="_blank">AKR1E2</a>;SAVANT_INFO=+/21.8kb/10/1.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.837+88T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1E2+c.837+88T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:4884784">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3363,304,0:127	1|1:0,112:112:99:3752,337,0:127	1|1:0,68:68:99:2249,204,0:127
10	4889403	.	C	T	28682.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=908;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs12240276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12240276" target="_blank">rs12240276</a>;ExAC.Info.AC=12281;ExAC.Info.AN=126702;ExAC.Info.AF=0.097;ExAC.Info.AC_Het=10953;ExAC.Info.AC_Hom=663;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cga/Tga;snpeff.Amino_Acid_Change=p.Arg301*/c.901C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=AKR1E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1E2" target="_blank">AKR1E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298375;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298375;SAVANT_GENE=AKR1E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1E2" target="_blank">AKR1E2</a>;SAVANT_INFO=+/21.8kb/10/1.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.901C>T_p.Arg301X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1E2+c.901C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:4889403">View</a>	GT:AD:DP:GQ:PL:TP	1|0:156,108:264:99:2768,0,4254:127	0|0:366,0:366:99:0,1099,12277:127	1|1:0,278:278:99:9460,835,0:127
10	5008383	.	C	T	13153.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=602;MQ=68.84;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7908994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7908994" target="_blank">rs7908994</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.252+110C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380872;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380872;SAVANT_GENE=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;SAVANT_INFO=+/16.7kb/9/3.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.252+110C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C1+c.252+110C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5008383">View</a>	GT:AD:DP:GQ:PL:TP	1|0:98,117:215:99:3472,0,2787:127	0|0:221,1:222:99:0,663,7730:127	1|0:75,90:165:99:2942,0,2082:127
10	5009347	.	A	G	8611.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4445550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4445550" target="_blank">rs4445550</a>;ExAC.Info.AC=32927;ExAC.Info.AN=124790;ExAC.Info.AF=0.264;ExAC.Info.AC_Het=16395;ExAC.Info.AC_Hom=3910;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369+112A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380872;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380872;SAVANT_GENE=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;SAVANT_INFO=+/16.7kb/9/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.369+112A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C1+c.369+112A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5009347">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,64:140:99:1856,0,1945:127	0|0:155,0:155:99:0,466,5165:127	1|0:64,62:126:99:1851,0,1880:127
10	5009364	.	T	C	31823.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2904802;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2904802" target="_blank">rs2904802</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369+129T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380872;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380872;SAVANT_GENE=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;SAVANT_INFO=+/16.7kb/9/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.369+129T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C1+c.369+129T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5009364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4731,400,0:127	1|1:0,158:158:99:5499,474,0:127	1|1:0,127:127:99:4525,382,0:127
10	5010572	.	A	G	5339.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=72;MQ=40.70;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1138600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1138600" target="_blank">rs1138600</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=121281;ExAC.Info.AN=121904;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=171;ExAC.Info.AC_Hom=36359;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr147Thr/c.441A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380872;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380872;SAVANT_GENE=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;SAVANT_INFO=+/16.7kb/9/3.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.441A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C1+c.441A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5010572">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:885,75,0:67	1|1:0,24:24:72:846,72,0:67	1|1:0,23:23:69:808,69,0:67
10	5014545	.	T	TA	23303.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=347;MQ=64.09;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs67671072;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67671072" target="_blank">rs67671072</a>;ExAC.Info.AC=72460;ExAC.Info.AN=126632;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=37156;ExAC.Info.AC_Hom=15586;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.680+44_680+45insA;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380872;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000380872;SAVANT_GENE=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;SAVANT_INFO=+/16.7kb/9/3.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.680+51dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C1+c.680+51dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5014545">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:2677,279,0:127	1|1:0,142:142:99:4119,429,0:127	1|1:0,113:113:99:3279,339,0:127
10	5018132	.	A	G	156.05	PASS	InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=2;MQ=53.85;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=./.;NA12891_GT=1|1;dbSNP139.ID=rs201420087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201420087" target="_blank">rs201420087</a>;ExAC.Info.AC=3915;ExAC.Info.AN=7524;ExAC.Info.AF=0.520;ExAC.Info.AC_Het=462;ExAC.Info.AC_Hom=357;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.929+7A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380872;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380872;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380872;SAVANT_GENE=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;SAVANT_INFO=+/16.7kb/9/3.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.929+7A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C1+c.929+7A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5018132">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,2:2:6:90,6,0	./.
10	5018146	.	T	A	234.76	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=3;MQ=59.72;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs199593717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199593717" target="_blank">rs199593717</a>;ExAC.Info.AC=3581;ExAC.Info.AN=6960;ExAC.Info.AF=0.515;ExAC.Info.AC_Het=352;ExAC.Info.AC_Hom=244;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.929+21T>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380872;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380872;SAVANT_GENE=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;SAVANT_INFO=+/16.7kb/9/3.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.929+21T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C1+c.929+21T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5018146">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,2:2:6:90,6,0	1|1:0,1:1:3:39,3,0
10	5018174	.	C	T	381.63	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=4;MQ=59.72;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs200458191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200458191" target="_blank">rs200458191</a>;ExAC.Info.AC=2079;ExAC.Info.AN=5354;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=146;ExAC.Info.AC_Hom=68;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.929+49C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380872;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380872;SAVANT_GENE=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;SAVANT_INFO=+/16.7kb/9/3.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.929+49C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C1+c.929+49C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5018174">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,3:3:9:135,9,0	1|1:0,1:1:3:45,3,0
10	5018178	.	G	A	381.63	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=4;MQ=59.72;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs201224840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201224840" target="_blank">rs201224840</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.929+53G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380872;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380872;SAVANT_GENE=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;SAVANT_INFO=+/16.7kb/9/3.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.929+53G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C1+c.929+53G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5018178">View</a>	GT:AD:DP:GQ:PL	./.	1|1:0,3:3:9:135,9,0	1|1:0,1:1:3:45,3,0
10	5019959	.	G	A	2793.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=173;MQ=67.63;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs8483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8483" target="_blank">rs8483</a>;ExAC.Info.AC=56484;ExAC.Info.AN=126626;ExAC.Info.AF=0.446;ExAC.Info.AC_Het=29415;ExAC.Info.AC_Hom=12837;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=25;snpeff.Amino_Acid_Change=c.*25G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380872;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380872;SAVANT_GENE=AKR1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C1" target="_blank">AKR1C1</a>;SAVANT_INFO=+/16.7kb/9/3.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*25G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C1+c.*25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5019959">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,26:48:99:675,0,692:127	0|0:72,0:72:99:0,216,2872:127	1|0:36,17:53:99:464,0,1251:127
10	5037434	.	TC	T	430.16	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=23;MQ=30.87;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Obesity|_hyperphagia|_and_developmental_delay_(3)|_46XY_sex_reversal_8|_614279_(3);dbSNP139.ID=rs200291679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200291679" target="_blank">rs200291679</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.846+76delG;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380753;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000380753;SAVANT_GENE=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;SAVANT_INFO=-/16.3kb/9/3.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.846+76delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C2+c.846+76delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5037434">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,3:8:88:88,0,163:18	1|0:5,4:9:99:123,0,160:18	0|0:6,0:6:18:0,18,224:18
10	5037696	.	G	C	782.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=259;MQ=43.42;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Obesity|_hyperphagia|_and_developmental_delay_(3)|_46XY_sex_reversal_8|_614279_(3);dbSNP139.ID=rs199804594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199804594" target="_blank">rs199804594</a>;ExAC.Info.AC=25453;ExAC.Info.AN=124386;ExAC.Info.AF=0.205;ExAC.Info.AC_Het=23207;ExAC.Info.AC_Hom=332;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.17G>C;snpeff.Gene_Name=RP11-499O7.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499O77" target="_blank">RP11-499O77</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451575;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681-20C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499O77" target="_blank">RP11-499O77</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380753;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380753;SAVANT_GENE=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;SAVANT_INFO=-/16.3kb/9/3.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.681-20C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C2+c.681-20C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5037696">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,204,1971:127	0|0:117,0:117:99:0,351,3589:127	0|1:52,22:74:99:410,0,1443:127
10	5037715	.	G	C	826.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=254;MQ=47.18;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Obesity|_hyperphagia|_and_developmental_delay_(3)|_46XY_sex_reversal_8|_614279_(3);dbSNP139.ID=rs201606136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201606136" target="_blank">rs201606136</a>;ExAC.Info.AC=33490;ExAC.Info.AN=126168;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=27063;ExAC.Info.AC_Hom=2798;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.36G>C;snpeff.Gene_Name=RP11-499O7.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499O77" target="_blank">RP11-499O77</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451575;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681-39C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499O77" target="_blank">RP11-499O77</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380753;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380753;SAVANT_GENE=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;SAVANT_INFO=-/16.3kb/9/3.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.681-39C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C2+c.681-39C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5037715">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,12:60:99:154,0,1477:127	1|0:101,19:120:99:240,0,3232:127	0|0:74,0:74:99:0,222,2631:127
10	5037718	.	A	G	1087.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=254;MQ=47.76;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Obesity|_hyperphagia|_and_developmental_delay_(3)|_46XY_sex_reversal_8|_614279_(3);dbSNP139.ID=rs183737995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=183737995" target="_blank">rs183737995</a>;ExAC.Info.AC=42383;ExAC.Info.AN=126360;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=35834;ExAC.Info.AC_Hom=2858;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.39A>G;snpeff.Gene_Name=RP11-499O7.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499O77" target="_blank">RP11-499O77</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451575;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681-42T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499O77" target="_blank">RP11-499O77</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380753;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380753;SAVANT_GENE=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;SAVANT_INFO=-/16.3kb/9/3.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.681-42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C2+c.681-42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5037718">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,8:59:58:58,0,1641:58	0/1:104,19:123:99:150,0,3272:58	0/1:58,14:72:99:171,0,1629:58
10	5037732	.	G	A	706.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=239;MQ=48.69;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Obesity|_hyperphagia|_and_developmental_delay_(3)|_46XY_sex_reversal_8|_614279_(3);dbSNP139.ID=rs199922753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199922753" target="_blank">rs199922753</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.53G>A;snpeff.Gene_Name=RP11-499O7.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499O77" target="_blank">RP11-499O77</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451575;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681-56C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499O77" target="_blank">RP11-499O77</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380753;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380753;SAVANT_GENE=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;SAVANT_INFO=-/16.3kb/9/3.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.681-56C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C2+c.681-56C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5037732">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,10:59:99:129,0,1372:127	1|0:98,18:116:99:237,0,2832:127	0|0:64,0:64:99:0,192,2123:127
10	5037914	.	G	C	7043.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=327;MQ=64.02;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Obesity|_hyperphagia|_and_developmental_delay_(3)|_46XY_sex_reversal_8|_614279_(3);dbSNP139.ID=rs146951526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146951526" target="_blank">rs146951526</a>;ExAC.Info.AC=7658;ExAC.Info.AN=125848;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=5243;ExAC.Info.AC_Hom=983;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.180+55G>C;snpeff.Gene_Name=RP11-499O7.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499O77" target="_blank">RP11-499O77</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451575;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.680+34C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499O77" target="_blank">RP11-499O77</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380753;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380753;SAVANT_GENE=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;SAVANT_INFO=-/16.3kb/9/3.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.680+34C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C2+c.680+34C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5037914">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,46:88:99:1409,0,1258:127	1|0:66,58:124:99:1700,0,1914:127	0|0:115,0:115:99:0,346,4250:127
10	5038105	.	T	C	466.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=191;MQ=52.59;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Obesity|_hyperphagia|_and_developmental_delay_(3)|_46XY_sex_reversal_8|_614279_(3);dbSNP139.ID=rs200022607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200022607" target="_blank">rs200022607</a>;ExAC.Info.AC=7305;ExAC.Info.AN=124706;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=4405;ExAC.Info.AC_Hom=152;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.571-48A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380753;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.181-124T>C;snpeff.Gene_Name=RP11-499O7.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451575;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380753;SAVANT_GENE=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;SAVANT_INFO=-/16.3kb/9/3.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.571-48A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C2+c.571-48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5038105">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2040:127	0|1:43,12:55:99:252,0,1369:127	0|0:77,0:77:99:0,232,2702:127
10	5041398	.	T	C	6008.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=139;MQ=45.32;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Obesity|_hyperphagia|_and_developmental_delay_(3)|_46XY_sex_reversal_8|_614279_(3);dbSNP139.ID=rs56259037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56259037" target="_blank">rs56259037</a>;ExAC.Info.AC=28174;ExAC.Info.AN=125978;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=24125;ExAC.Info.AC_Hom=973;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr147Thr/c.441A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380753;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380753;SAVANT_GENE=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;SAVANT_INFO=-/16.3kb/9/3.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.441A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C2+c.441A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5041398">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,17:34:99:504,0,511:127	0/1:23,43:66:99:1394,0,620:127	0/1:14,25:39:99:823,0,380:127
10	5042664	.	C	T	5310.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=543;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Obesity|_hyperphagia|_and_developmental_delay_(3)|_46XY_sex_reversal_8|_614279_(3);dbSNP139.ID=rs2275929;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275929" target="_blank">rs2275929</a>;ExAC.Info.AC=20831;ExAC.Info.AN=126668;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=16607;ExAC.Info.AC_Hom=1874;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369+78G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380753;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380753;SAVANT_GENE=AKR1C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C2" target="_blank">AKR1C2</a>;SAVANT_INFO=-/16.3kb/9/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.369+78G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C2+c.369+78G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5042664">View</a>	GT:AD:DP:GQ:PL:TP	0|0:151,0:151:99:0,454,5567:127	0|1:86,93:179:99:2674,0,2566:127	0|0:213,0:213:99:0,640,7595:127
10	5091201	.	G	A	4514.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10736995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10736995" target="_blank">rs10736995</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+114G>A;snpeff.Gene_Name=RP11-499O7.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451627;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5091201">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,0:149:99:0,448,5456:127	0|1:86,79:165:99:2277,0,2939:127	0|0:131,0:131:99:0,393,4762:127
10	5120157	.	G	T	14618.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4881396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881396" target="_blank">rs4881396</a>;ExAC.Info.AC=12972;ExAC.Info.AN=15928;ExAC.Info.AF=0.814;ExAC.Info.AC_Het=1444;ExAC.Info.AC_Hom=4218;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5120157">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:1922,183,0:127	1|1:0,68:68:99:2279,204,0:127	1|1:0,76:76:99:2472,228,0:127
10	5120227	.	C	T	8010.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs11252921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11252921" target="_blank">rs11252921</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5120227">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1783,171,0:127	1|1:0,44:44:99:1552,132,0:127	1|0:19,19:38:99:563,0,651:127
10	5136499	.	A	G	4818.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=460;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3763676;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3763676" target="_blank">rs3763676</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Polycystic_ovary_syndrome|_association_with;hgmd_2014.2.OMIM_ID=603966;hgmd_2014.2.PubMed=16263811;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16263811" target="_blank">16263811</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=138;snpeff.Amino_Acid_Change=c.-138A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-138A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.-138A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5136499">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,405,4466:127	0|0:173,0:173:99:0,520,6306:127	0|1:80,72:152:99:2428,0,2424:127
10	5136651	.	C	G	17346.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=564;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12529" target="_blank">rs12529</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Lung_cancer|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=603966;hgmd_2014.2.PubMed=15284179;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15284179" target="_blank">15284179</a>;ExAC.Info.AC=62835;ExAC.Info.AN=126704;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=28935;ExAC.Info.AC_Hom=16942;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caC/caG;snpeff.Amino_Acid_Change=p.His5Gln/c.15C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.15C>G_p.His5Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.15C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5136651">View</a>	GT:AD:DP:GQ:PL:TP	0/1:65,89:154:99:2683,0,1982:127	0/1:129,97:226:99:2813,0,3858:127	0/1:90,94:184:99:2736,0,2497:127
10	5138607	.	G	A	7270.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=881;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7741" target="_blank">rs7741</a>;ExAC.Info.AC=36008;ExAC.Info.AN=126688;ExAC.Info.AF=0.284;ExAC.Info.AC_Het=24115;ExAC.Info.AC_Hom=5909;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro30Pro/c.90G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.90G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.90G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5138607">View</a>	GT:AD:DP:GQ:PL:TP	0|0:284,0:284:99:0,853,9336:127	0|0:347,0:347:99:0,1043,11720:127	0|1:125,125:250:99:3654,0,3411:127
10	5138747	.	A	G	20002.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=954;MQ=68.43;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11551177;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11551177" target="_blank">rs11551177</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_enzyme_activity;hgmd_2014.2.OMIM_ID=603966;hgmd_2014.2.PubMed=19460435;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19460435" target="_blank">19460435</a>;ExAC.Info.AC=6379;ExAC.Info.AN=126682;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=5934;ExAC.Info.AC_Hom=221;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu77Gly/c.230A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.230A>G_p.Glu77Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.230A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5138747">View</a>	GT:AD:DP:GQ:PL:TP	0|1:153,154:307:99:4766,0,4280:127	1|0:184,170:354:99:5151,0,5481:127	0|0:292,1:293:99:0,842,10382:127
10	5139685	.	G	A	61453.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=809;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12387" target="_blank">rs12387</a>;ExAC.Info.AC=105981;ExAC.Info.AN=126700;ExAC.Info.AF=0.836;ExAC.Info.AC_Het=17232;ExAC.Info.AC_Hom=44370;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys104Lys/c.312G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.312G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.312G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5139685">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,207:207:99:6938,625,0:127	1|1:0,318:318:99:11005,956,0:127	1|1:0,284:284:99:9987,854,0:127
10	5139815	.	C	A	10588.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2245191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2245191" target="_blank">rs2245191</a>;ExAC.Info.AC=28825;ExAC.Info.AN=126682;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=21805;ExAC.Info.AC_Hom=3422;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369+73C>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.369+73C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.369+73C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5139815">View</a>	GT:AD:DP:GQ:PL:TP	0/1:52,52:104:99:1464,0,1790:127	0/1:69,61:130:99:1739,0,2212:127	0/1:62,49:111:99:1505,0,1991:127
10	5140980	.	T	C	5926.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs34140485;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34140485" target="_blank">rs34140485</a>;ExAC.Info.AC=6787;ExAC.Info.AN=126700;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=6296;ExAC.Info.AC_Hom=228;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.370-14T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.370-14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.370-14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5140980">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,42:80:99:1240,0,1009:127	1|0:37,46:83:99:1414,0,1104:127	0|0:92,0:92:99:0,276,3175:127
10	5141609	.	C	T	21030.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1096;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34186955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34186955" target="_blank">rs34186955</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_enzyme_activity_with_DOX/DAUN;hgmd_2014.2.OMIM_ID=603966;hgmd_2014.2.PubMed=20837989;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20837989" target="_blank">20837989</a>;ExAC.Info.AC=1715;ExAC.Info.AN=126704;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1667;ExAC.Info.AC_Hom=24;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Tca;snpeff.Amino_Acid_Change=p.Pro180Ser/c.538C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.538C>T_p.Pro180Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.538C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5141609">View</a>	GT:AD:DP:GQ:PL:TP	0|1:194,149:343:99:3880,0,5840:127	1|0:199,195:394:99:5637,0,6491:127	0|0:359,0:359:99:0,1079,13148:127
10	5144599	.	T	C	7688.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=98;MQ=67.40;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10904419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10904419" target="_blank">rs10904419</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681-78T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Involved_in_ligand_recognition_and_product_release];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Involved_in_ligand_recognition_and_product_release];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.681-78T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.681-78T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5144599">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1161,99,0:83	1|1:0,37:37:99:1352,111,0:83	1|1:0,28:28:84:1022,84,0:83
10	5144621	.	C	T	1754.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=94;MQ=66.69;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs33921818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33921818" target="_blank">rs33921818</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681-56C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Involved_in_ligand_recognition_and_product_release];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Involved_in_ligand_recognition_and_product_release];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.681-56C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.681-56C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5144621">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,10:29:99:246,0,525:84	1|0:19,18:37:99:568,0,480:84	0|0:28,0:28:84:0,84,920:84
10	5144635	.	T	C	3641.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=93;MQ=66.22;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4347280;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4347280" target="_blank">rs4347280</a>;ExAC.Info.AC=22883;ExAC.Info.AN=118400;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=8435;ExAC.Info.AC_Hom=1373;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681-42T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Involved_in_ligand_recognition_and_product_release];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Involved_in_ligand_recognition_and_product_release];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.681-42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.681-42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5144635">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,18:29:99:557,0,400:127	0/1:19,22:41:99:675,0,696:127	0/1:11,12:23:99:391,0,350:127
10	5144638	.	C	G	1544.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=86;MQ=65.63;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs33979906;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33979906" target="_blank">rs33979906</a>;ExAC.Info.AC=32270;ExAC.Info.AN=120730;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=10267;ExAC.Info.AC_Hom=2592;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681-39C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Involved_in_ligand_recognition_and_product_release];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Involved_in_ligand_recognition_and_product_release];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.681-39C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.681-39C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5144638">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,10:26:99:306,0,649:69	1|0:21,17:38:99:465,0,870:69	0|0:22,0:22:69:0,69,991:69
10	5144657	.	C	G	616.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=80;MQ=67.37;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11252941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11252941" target="_blank">rs11252941</a>;ExAC.Info.AC=28293;ExAC.Info.AN=124386;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=15350;ExAC.Info.AC_Hom=2754;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681-20C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Involved_in_ligand_recognition_and_product_release];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Involved_in_ligand_recognition_and_product_release];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.681-20C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.681-20C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5144657">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,950:71	0|0:33,0:33:99:0,99,1332:71	0|1:13,10:23:99:327,0,460:71
10	5147909	.	G	A	33002.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=758;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2275928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275928" target="_blank">rs2275928</a>;ExAC.Info.AC=64360;ExAC.Info.AN=126088;ExAC.Info.AF=0.510;ExAC.Info.AC_Het=23620;ExAC.Info.AC_Hom=14802;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.929+40G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.929+40G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.929+40G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5147909">View</a>	GT:AD:DP:GQ:PL:TP	1|0:125,114:239:99:3323,0,3589:127	0|1:155,144:299:99:4043,0,4574:127	1|1:0,220:220:99:7860,660,0:127
10	5149649	.	T	G	7304.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs34320249;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34320249" target="_blank">rs34320249</a>;ExAC.Info.AC=7143;ExAC.Info.AN=126700;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=6624;ExAC.Info.AC_Hom=257;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.930-4T>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930T>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930T>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.930-4T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.930-4T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5149649">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,47:111:99:1410,0,1836:127	1|0:91,57:148:99:1744,0,2763:127	0|0:101,0:101:99:0,304,3621:127
10	5149703	.	G	A	21488.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=475;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3209896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3209896" target="_blank">rs3209896</a>;ExAC.Info.AC=66356;ExAC.Info.AN=126696;ExAC.Info.AF=0.524;ExAC.Info.AC_Het=29252;ExAC.Info.AC_Hom=18493;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.*8G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380554;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380554;SAVANT_GENE=AKR1C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3" target="_blank">AKR1C3</a>;SAVANT_INFO=+/13.9kb/9/1.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*8G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C3+c.*8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5149703">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,79:161:99:2245,0,2446:127	0|1:69,109:178:99:3465,0,2050:127	1|1:0,136:136:99:4757,408,0:127
10	5196273	.	A	G	3617.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=42;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1781930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1781930" target="_blank">rs1781930</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1781930" target="_blank">rs1781930</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5196273">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:464,36,0:35	1|1:0,18:18:54:690,54,0:35	1|1:0,12:12:36:462,36,0:35
10	5196479	.	C	T	3334.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=468;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1334471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1334471" target="_blank">rs1334471</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1CL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5196479">View</a>	GT:AD:DP:GQ:PL:TP	0|0:163,0:163:99:0,490,5388:127	0|0:177,0:177:99:0,532,6101:127	0|1:65,63:128:99:1686,0,1823:127
10	5199934	.	G	C	11319.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1781935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1781935" target="_blank">rs1781935</a>;ExAC.Info.AC=20641;ExAC.Info.AN=49198;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=4674;ExAC.Info.AC_Hom=3041;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1CL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5199934">View</a>	GT:AD:DP:GQ:PL:TP	0/1:54,51:105:99:1397,0,1349:127	0/1:69,74:143:99:2106,0,1937:127	0/1:69,44:113:99:1198,0,1885:127
10	5200013	.	G	A	5982.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72776976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72776976" target="_blank">rs72776976</a>;ExAC.Info.AC=1109;ExAC.Info.AN=32180;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=800;ExAC.Info.AC_Hom=29;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1CL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5200013">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,35:79:99:1053,0,1300:127	1|0:55,48:103:99:1437,0,1746:127	0|0:65,0:65:99:0,196,2441:127
10	5200739	.	T	TAGG	25207.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5782810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5782810" target="_blank">rs5782810</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1CL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5200739">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2963,199,0:127	1|1:0,93:93:99:4159,280,0:127	1|1:0,75:75:99:3465,232,0:127
10	5202221	.	G	A	6987.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs41460145;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41460145" target="_blank">rs41460145</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1CL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5202221">View</a>	GT:AD:DP:GQ:PL:TP	0/1:60,40:100:99:928,0,2699:127	0/1:72,50:122:99:1206,0,3549:127	0/1:50,45:95:99:1119,0,1434:127
10	5202241	.	C	T	12135.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1761599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1761599" target="_blank">rs1761599</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1CL1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5202241">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,35:84:99:1277,0,1480:127	0|1:67,40:107:99:1466,0,2071:127	1|1:0,76:76:99:2993,238,0:127
10	5203864	.	C	T	3488.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=486;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11253021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11253021" target="_blank">rs11253021</a>;ExAC.Info.AC=34948;ExAC.Info.AN=126696;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=23744;ExAC.Info.AC_Hom=5545;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro111Pro/c.333G>A;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000488756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000488756;SAVANT_GENE=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;SAVANT_INFO=-/24.3kb/4/0.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.333G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1CL1+c.333G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5203864">View</a>	GT:AD:DP:GQ:PL:TP	0|0:148,0:148:99:0,445,4911:127	0|0:200,0:200:99:0,600,6869:127	0|1:74,64:138:99:1763,0,2062:127
10	5203944	.	AC	A	1623.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11325738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11325738" target="_blank">rs11325738</a>;ExAC.Info.AC=34640;ExAC.Info.AN=126616;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=23261;ExAC.Info.AC_Hom=5256;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.262-10delG;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000488756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000488756;SAVANT_GENE=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;SAVANT_INFO=-/24.3kb/4/0.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.262-10delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1CL1+c.262-10delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5203944">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,256,3103:127	0|0:112,2:114:99:0,300,4021:127	0|1:41,29:70:99:835,0,1287:127
10	5204928	.	C	T	1970.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7097295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7097295" target="_blank">rs7097295</a>;ExAC.Info.AC=34969;ExAC.Info.AN=126702;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=23771;ExAC.Info.AC_Hom=5591;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg50His/c.149G>A;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000488756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000488756;SAVANT_GENE=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;SAVANT_INFO=-/24.3kb/4/0.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.149G>A_p.Arg50His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1CL1+c.149G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5204928">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,248,2689:127	0|0:86,0:86:99:0,258,2823:127	0|1:51,40:91:99:1004,0,1424:127
10	5242164	.	A	G	21799.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1158;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17306779;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17306779" target="_blank">rs17306779</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=25770;ExAC.Info.AN=126696;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=20211;ExAC.Info.AC_Hom=2767;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val35Val/c.105A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380448;SAVANT_GENE=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;SAVANT_INFO=+/23.5kb/11/1.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.105A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C4+c.105A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5242164">View</a>	GT:AD:DP:GQ:PL:TP	1|0:217,168:385:99:4733,0,6155:127	0|0:389,0:389:99:0,1172,13711:127	1|0:195,189:384:99:5447,0,5465:127
10	5242346	.	G	A	69968.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1010;MQ=69.87;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7099651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7099651" target="_blank">rs7099651</a>;ExAC.Info.AC=125833;ExAC.Info.AN=126584;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=694;ExAC.Info.AC_Hom=60654;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.252+35G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380448;SAVANT_GENE=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;SAVANT_INFO=+/23.5kb/11/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.252+35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C4+c.252+35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5242346">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,336:336:99:10554,1009,0:127	1|1:0,356:356:99:12059,1069,0:127	1|1:0,318:318:99:10770,956,0:127
10	5244441	.	A	G	5913.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2151896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2151896" target="_blank">rs2151896</a>;ExAC.Info.AC=7785;ExAC.Info.AN=13514;ExAC.Info.AF=0.576;ExAC.Info.AC_Het=2640;ExAC.Info.AC_Hom=2240;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AKR1CL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.253-1899A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1CL1" target="_blank">AKR1CL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380448;SAVANT_GENE=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;SAVANT_INFO=+/23.5kb/11/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.253-1899A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C4+c.253-1899A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5244441">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,32:46:99:1010,0,336:127	0/1:25,32:57:99:910,0,741:127	0/1:27,26:53:99:768,0,753:127
10	5244456	.	A	AT	609.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs200255773;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200255773" target="_blank">rs200255773</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.253-1883_253-1882insT;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380448;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000380448;SAVANT_GENE=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;SAVANT_INFO=+/23.5kb/11/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.253-1876dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C4+c.253-1876dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5244456">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,761:74	0|1:21,15:36:99:328,0,483:74	0|0:38,0:38:99:0,114,1143:74
10	5246584	.	C	A	28646.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=616;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs11253042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11253042" target="_blank">rs11253042</a>;ExAC.Info.AC=50620;ExAC.Info.AN=126588;ExAC.Info.AF=0.400;ExAC.Info.AC_Het=27532;ExAC.Info.AC_Hom=10842;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369+128C>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380448;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380448;SAVANT_GENE=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;SAVANT_INFO=+/23.5kb/11/1.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.369+128C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C4+c.369+128C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5246584">View</a>	GT:AD:DP:GQ:PL:TP	0|1:104,69:173:99:1749,0,3119:127	1|1:0,248:248:99:8438,745,0:127	0|1:96,99:195:99:2827,0,2730:127
10	5246626	.	G	A	10890.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=489;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56015013;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56015013" target="_blank">rs56015013</a>;ExAC.Info.AC=7490;ExAC.Info.AN=126172;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=6514;ExAC.Info.AC_Hom=223;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369+170G>A;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380448;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380448;SAVANT_GENE=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;SAVANT_INFO=+/23.5kb/11/1.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.369+170G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C4+c.369+170G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5246626">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,82:140:99:2294,0,1490:127	0|0:203,0:203:99:0,610,7092:127	1|0:76,70:146:99:1964,0,2228:127
10	5246670	.	A	C	18659.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1413781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1413781" target="_blank">rs1413781</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369+214A>C;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380448;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380448;SAVANT_GENE=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;SAVANT_INFO=+/23.5kb/11/1.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.369+214A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C4+c.369+214A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5246670">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,47:100:99:1433,0,1438:127	1|1:0,138:138:99:5258,415,0:127	0|1:44,57:101:99:1897,0,1268:127
10	5254804	.	G	T	2368.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11253045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11253045" target="_blank">rs11253045</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.680+116G>T;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380448;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380448;SAVANT_GENE=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;SAVANT_INFO=+/23.5kb/11/1.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.680+116G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C4+c.680+116G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5254804">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,235,2984:127	0|0:93,0:93:99:0,280,3552:127	0|1:41,41:82:99:1203,0,1374:127
10	5255025	.	A	G	54289.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=726;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4880718;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4880718" target="_blank">rs4880718</a>;ExAC.Info.AC=126692;ExAC.Info.AN=126702;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=10;ExAC.Info.AC_Hom=63285;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln250Arg/c.749A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380448;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380448;SAVANT_GENE=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;SAVANT_INFO=+/23.5kb/11/1.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.749A>G_p.Gln250Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C4+c.749A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5255025">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,223:223:99:7286,669,0:127	1|1:0,295:295:99:10120,885,0:127	1|1:0,208:208:99:6976,624,0:127
10	5260611	.	TTCAC	T	3367.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72003850;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72003850" target="_blank">rs72003850</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.930-69_930-66delTCAC;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380448;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000380448;SAVANT_GENE=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;SAVANT_INFO=+/23.5kb/11/1.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.930-68_930-65delCACT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C4+c.930-68_930-65delCACT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5260611">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,265,4343:127	0|1:49,45:94:99:1707,0,1922:127	0|0:87,0:87:99:0,262,4224:127
10	5260812	.	A	G	43042.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=605;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2398157;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2398157" target="_blank">rs2398157</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=89;snpeff.Amino_Acid_Change=c.*89A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380448;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380448;SAVANT_GENE=AKR1C4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C4" target="_blank">AKR1C4</a>;SAVANT_INFO=+/23.5kb/11/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*89A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKR1C4+c.*89A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5260812">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,171:171:99:5624,514,0:127	1|1:0,238:238:99:7731,715,0:127	1|1:0,196:196:99:6526,589,0:127
10	5415954	.	A	G	2391.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10904481;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10904481" target="_blank">rs10904481</a>;ExAC.Info.AC=45243;ExAC.Info.AN=126486;ExAC.Info.AF=0.358;ExAC.Info.AC_Het=25445;ExAC.Info.AC_Hom=7957;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.271A>G;snpeff.Amino_Acid_length=161;snpeff.Gene_Name=UCN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCN3" target="_blank">UCN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380433;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg91Gly/c.271A>G;snpeff.Amino_Acid_length=161;snpeff.Gene_Name=UCN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCN3" target="_blank">UCN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380433;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380433;SAVANT_GENE=UCN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCN3" target="_blank">UCN3</a>;SAVANT_INFO=+/9.2kb/2/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.271A>G_p.Arg91Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UCN3+c.271A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5415954">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,340,3974:127	0|1:60,46:106:99:1214,0,1743:127	0|0:97,0:97:99:0,292,3375:127
10	5435918	.	G	A	5484.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7097775;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7097775" target="_blank">rs7097775</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=82946;ExAC.Info.AN=126704;ExAC.Info.AF=0.655;ExAC.Info.AC_Het=27816;ExAC.Info.AC_Hom=27559;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala301Ala/c.903C>T;snpeff.Amino_Acid_length=446;snpeff.Gene_Name=TUBAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBAL3" target="_blank">TUBAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380419;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380419;SAVANT_GENE=TUBAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBAL3" target="_blank">TUBAL3</a>;SAVANT_INFO=-/11.7kb/4/1.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.903C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUBAL3+c.903C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5435918">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,249,2917:127	0|1:41,52:93:99:1460,0,1251:127	0|1:45,42:87:99:1302,0,1329:127
10	5436260	.	A	G	3264.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7910290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7910290" target="_blank">rs7910290</a>;ExAC.Info.AC=93470;ExAC.Info.AN=126704;ExAC.Info.AF=0.738;ExAC.Info.AC_Het=24056;ExAC.Info.AC_Hom=34695;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala187Ala/c.561T>C;snpeff.Amino_Acid_length=446;snpeff.Gene_Name=TUBAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBAL3" target="_blank">TUBAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380419;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380419;SAVANT_GENE=TUBAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBAL3" target="_blank">TUBAL3</a>;SAVANT_INFO=-/11.7kb/4/1.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.561T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUBAL3+c.561T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5436260">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,137,1601:127	0|1:27,45:72:99:1298,0,806:127	0|1:28,13:41:99:354,0,870:127
10	5437365	.	A	G	3942.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11253156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11253156" target="_blank">rs11253156</a>;ExAC.Info.AC=93812;ExAC.Info.AN=126680;ExAC.Info.AF=0.741;ExAC.Info.AC_Het=23766;ExAC.Info.AC_Hom=34904;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala107Ala/c.321T>C;snpeff.Amino_Acid_length=446;snpeff.Gene_Name=TUBAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBAL3" target="_blank">TUBAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380419;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380419;SAVANT_GENE=TUBAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBAL3" target="_blank">TUBAL3</a>;SAVANT_INFO=-/11.7kb/4/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.321T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUBAL3+c.321T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5437365">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2131:127	0|1:46,48:94:99:1257,0,1263:127	0|1:32,24:56:99:734,0,953:127
10	5446794	.	C	T	5042.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7477466;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7477466" target="_blank">rs7477466</a>;ExAC.Info.AC=92359;ExAC.Info.AN=126656;ExAC.Info.AF=0.729;ExAC.Info.AC_Het=24184;ExAC.Info.AC_Hom=33211;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=upstream_gene_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Amino_Acid_length=446;snpeff.Gene_Name=TUBAL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBAL3" target="_blank">TUBAL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380419;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBAL3" target="_blank">TUBAL3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUBAL3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5446794">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2347:127	0|1:30,51:81:99:1512,0,861:127	0|1:39,36:75:99:1029,0,1178:127
10	5471200	.	C	T	17647.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4604777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4604777" target="_blank">rs4604777</a>;ExAC.Info.AC=122713;ExAC.Info.AN=125132;ExAC.Info.AF=0.981;ExAC.Info.AC_Het=2203;ExAC.Info.AC_Hom=60230;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.255+8C>T;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355029;SAVANT_GENE=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;SAVANT_INFO=+/45.9kb/12/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.255+8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NET1+c.255+8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5471200">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2243,207,0:127	1|1:0,87:87:99:2905,261,0:127	1|1:0,78:78:99:2833,235,0:127
10	5495218	.	T	C	22160.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4567355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4567355" target="_blank">rs4567355</a>;ExAC.Info.AC=125748;ExAC.Info.AN=126636;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=814;ExAC.Info.AC_Hom=62330;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.600T>C;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr200Tyr/c.600T>C;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355029;SAVANT_GENE=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;SAVANT_INFO=+/45.9kb/12/3.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.600T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NET1+c.600T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5495218">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3551,321,0:127	1|1:0,126:126:99:4280,379,0:127	1|1:0,76:76:99:2572,228,0:127
10	5498248	.	G	T	2284.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4242790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4242790" target="_blank">rs4242790</a>;ExAC.Info.AC=79654;ExAC.Info.AN=125314;ExAC.Info.AF=0.636;ExAC.Info.AC_Het=23605;ExAC.Info.AC_Hom=21879;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1384+12G>T;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1385G>T;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1385G>T;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1385G>T;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355029;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355029;SAVANT_GENE=NET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NET1" target="_blank">NET1</a>;SAVANT_INFO=+/45.9kb/12/3.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1384+12G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NET1+c.1384+12G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5498248">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,821:60	0|1:13,20:33:99:583,0,391:60	0|1:9,17:26:99:579,0,260:60
10	5541181	.	T	C	11519.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10904516;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10904516" target="_blank">rs10904516</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=42351;ExAC.Info.AN=126680;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=27475;ExAC.Info.AC_Hom=7331;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221T>C;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CALML5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML5" target="_blank">CALML5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys74Arg/c.221A>G;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CALML5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML5" target="_blank">CALML5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380332;SAVANT_GENE=CALML5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML5" target="_blank">CALML5</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.221A>G_p.Lys74Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALML5+c.221A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5541181">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,24:57:99:888,0,1288:127	0|0:76,0:76:99:0,232,3432:127	1|1:0,64:64:99:2888,196,0:127
10	5541183	.	C	T	11519.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs10904517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10904517" target="_blank">rs10904517</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=42348;ExAC.Info.AN=126680;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=27478;ExAC.Info.AC_Hom=7334;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219C>T;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CALML5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML5" target="_blank">CALML5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala73Ala/c.219G>A;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CALML5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML5" target="_blank">CALML5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380332;SAVANT_GENE=CALML5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML5" target="_blank">CALML5</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.219G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALML5+c.219G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5541183">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,23:55:99:888,0,1288:127	0|0:77,0:77:99:0,232,3432:127	1|1:0,64:64:99:2888,196,0:127
10	5541230	.	T	C	16596.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11546426;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11546426" target="_blank">rs11546426</a>;ExAC.Info.AC=36166;ExAC.Info.AN=126694;ExAC.Info.AF=0.285;ExAC.Info.AC_Het=25388;ExAC.Info.AC_Hom=5381;snpeff.Effect=sequence_feature[calcium-binding_region:2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.172T>C;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CALML5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML5" target="_blank">CALML5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.172T>C;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CALML5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML5" target="_blank">CALML5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser58Gly/c.172A>G;snpeff.Amino_Acid_length=146;snpeff.Gene_Name=CALML5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML5" target="_blank">CALML5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380332;SAVANT_GENE=CALML5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML5" target="_blank">CALML5</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.172A>G_p.Ser58Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALML5+c.172A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5541230">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,71:72:99:2536,178,0:127	1|0:70,58:128:99:1547,0,2130:127	1|0:48,40:88:99:1142,0,1371:127
10	5558145	.	G	GC	3897.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs5782832;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5782832" target="_blank">rs5782832</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2592_2593insG;snpeff.Gene_Name=CALML3-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML3-AS1" target="_blank">CALML3-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000543008;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML3-AS1" target="_blank">CALML3-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALML3-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5558145">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,268,3328:127	0|0:114,1:115:99:0,309,4216:127	0|1:48,62:110:99:1972,0,1466:127
10	5567366	.	G	A	9294.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1142825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1142825" target="_blank">rs1142825</a>;ExAC.Info.AC=40989;ExAC.Info.AN=126638;ExAC.Info.AF=0.324;ExAC.Info.AC_Het=26003;ExAC.Info.AC_Hom=7291;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.168C>T;snpeff.Gene_Name=RP11-116G8.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-116G85" target="_blank">RP11-116G85</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442008;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CALML3-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-116G85" target="_blank">RP11-116G85</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.318G>A;snpeff.Amino_Acid_length=149;snpeff.Gene_Name=CALML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-116G85" target="_blank">RP11-116G85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315238;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.318G>A;snpeff.Amino_Acid_length=149;snpeff.Gene_Name=CALML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-116G85" target="_blank">RP11-116G85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315238;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu106Leu/c.318G>A;snpeff.Amino_Acid_length=149;snpeff.Gene_Name=CALML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-116G85" target="_blank">RP11-116G85</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315238;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000315238;SAVANT_GENE=CALML3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALML3" target="_blank">CALML3</a>;SAVANT_INFO=+/1.3kb/1/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.318G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALML3+c.318G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5567366">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,63:132:99:1621,0,2019:127	0|0:192,0:192:99:0,577,7242:127	1|0:53,64:117:99:1803,0,1599:127
10	5682855	.	T	C	14276.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4427479;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4427479" target="_blank">rs4427479</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.710-62A>G;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SOCS_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.710T>C;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SOCS_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.710T>C;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357700;SAVANT_GENE=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;SAVANT_INFO=-/27.7kb/6/2.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.710-62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASB13+c.710-62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5682855">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2653,178,0:127	1|1:0,46:46:99:2094,141,0:127	1|0:29,15:44:99:543,0,1870:127
10	5682856	.	G	C	14276.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs7893640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7893640" target="_blank">rs7893640</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.710-63C>G;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SOCS_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.710G>C;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SOCS_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.710G>C;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357700;SAVANT_GENE=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;SAVANT_INFO=-/27.7kb/6/2.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.710-63C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASB13+c.710-63C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5682856">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2653,178,0:127	1|1:0,46:46:99:2094,141,0:127	1|0:28,15:43:99:543,0,1870:127
10	5684534	.	T	TA	7451.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=140;MQ=70.99;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs61006671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61006671" target="_blank">rs61006671</a>;ExAC.Info.AC=10419;ExAC.Info.AN=18782;ExAC.Info.AF=0.555;ExAC.Info.AC_Het=3670;ExAC.Info.AC_Hom=2227;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.518-610_518-611insT;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518_519insA;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.518_519insA;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000357700;SAVANT_GENE=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;SAVANT_INFO=-/27.7kb/6/2.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.518-611dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASB13+c.518-611dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5684534">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1601,141,0:116	1|0:31,25:56:99:860,0,712:116	1|1:0,39:39:99:1100,117,0:116
10	5693379	.	A	G	24271.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6602483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6602483" target="_blank">rs6602483</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.232-53T>C;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.232A>G;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.232A>G;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357700;SAVANT_GENE=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;SAVANT_INFO=-/27.7kb/6/2.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.232-53T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASB13+c.232-53T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5693379">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2377,225,0:127	1|1:0,129:129:99:4379,388,0:127	1|1:0,88:88:99:2878,264,0:127
10	5708420	.	T	C	980.46	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=36;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6602613;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6602613" target="_blank">rs6602613</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.43+52A>G;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357700;SAVANT_GENE=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;SAVANT_INFO=-/27.7kb/6/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.43+52A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASB13+c.43+52A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5708420">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,5:10:99:137,0,144:21	1|1:0,7:7:21:203,21,0:21	0|0:19,0:19:57:0,57,555:21
10	5708434	.	C	G	709.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=35;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56178329;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56178329" target="_blank">rs56178329</a>;ExAC.Info.AC=2819;ExAC.Info.AN=14956;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=1015;ExAC.Info.AC_Hom=216;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.43+38G>C;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357700;SAVANT_GENE=ASB13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASB13" target="_blank">ASB13</a>;SAVANT_INFO=-/27.7kb/6/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.43+38G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASB13+c.43+38G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5708434">View</a>	GT:AD:DP:GQ:PL:TP	0|1:6,5:11:99:102,0,187:50	1|0:2,5:7:59:119,0,59:50	0|0:17,0:17:51:0,51,492:50
10	5766337	.	G	A	2242.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=63;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10737018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10737018" target="_blank">rs10737018</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-336A10.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-336A102" target="_blank">RP11-336A102</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.248-56G>A;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-336A102" target="_blank">RP11-336A102</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.248-56G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.248-56G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5766337">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,9:20:99:254,0,431:111	0/1:11,11:22:99:362,0,429:111	0/1:5,16:21:99:490,0,112:111
10	5766352	.	C	T	1647.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72774076;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72774076" target="_blank">rs72774076</a>;ExAC.Info.AC=1192;ExAC.Info.AN=124986;ExAC.Info.AF=9.537e-03;ExAC.Info.AC_Het=1071;ExAC.Info.AC_Hom=7;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-336A10.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-336A102" target="_blank">RP11-336A102</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.248-41C>T;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-336A102" target="_blank">RP11-336A102</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.248-41C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.248-41C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5766352">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,16:30:99:468,0,530:72	1|0:15,13:28:99:373,0,613:72	0|0:24,0:24:72:0,72,1018:72
10	5781628	.	T	G	16134.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=543;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2254067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2254067" target="_blank">rs2254067</a>;ExAC.Info.AC=104721;ExAC.Info.AN=125136;ExAC.Info.AF=0.837;ExAC.Info.AC_Het=16879;ExAC.Info.AC_Hom=43856;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-336A10.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-336A102" target="_blank">RP11-336A102</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Ggt;snpeff.Amino_Acid_Change=p.Cys499Gly/c.1495T>G;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-336A102" target="_blank">RP11-336A102</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1495T>G_p.Cys499Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.1495T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5781628">View</a>	GT:AD:DP:GQ:PL:TP	0/1:89,80:169:99:2247,0,2460:127	0/1:109,90:199:99:2717,0,3088:127	0/1:88,87:175:99:2430,0,2440:127
10	5781969	.	A	T	15421.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2797486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2797486" target="_blank">rs2797486</a>;ExAC.Info.AC=104671;ExAC.Info.AN=125158;ExAC.Info.AF=0.836;ExAC.Info.AC_Het=16851;ExAC.Info.AC_Hom=43662;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-336A10.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-336A102" target="_blank">RP11-336A102</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acT;snpeff.Amino_Acid_Change=p.Thr612Thr/c.1836A>T;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-336A102" target="_blank">RP11-336A102</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1836A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.1836A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5781969">View</a>	GT:AD:DP:GQ:PL:TP	0/1:60,64:124:99:1879,0,1895:127	0/1:93,79:172:99:2381,0,2919:127	0/1:61,67:128:99:2159,0,1990:127
10	5784151	.	A	G	7151.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=666;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs45575338;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45575338" target="_blank">rs45575338</a>;ExAC.Info.AC=23242;ExAC.Info.AN=125162;ExAC.Info.AF=0.186;ExAC.Info.AC_Het=18442;ExAC.Info.AC_Hom=2393;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-336A10.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-336A102" target="_blank">RP11-336A102</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile807Val/c.2419A>G;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-336A102" target="_blank">RP11-336A102</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2419A>G_p.Ile807Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.2419A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5784151">View</a>	GT:AD:DP:GQ:PL:TP	0|0:200,0:200:99:0,601,6693:127	0|1:125,118:243:99:3594,0,3616:127	0|0:223,0:223:99:0,670,7849:127
10	5788608	.	G	C	24963.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=789;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2797491;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2797491" target="_blank">rs2797491</a>;ExAC.Info.AC=104500;ExAC.Info.AN=125194;ExAC.Info.AF=0.835;ExAC.Info.AC_Het=17066;ExAC.Info.AC_Hom=43642;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cCt;snpeff.Amino_Acid_Change=p.Arg1075Pro/c.3224G>C;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.3224G>C_p.Arg1075Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.3224G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5788608">View</a>	GT:AD:DP:GQ:PL:TP	0/1:118,139:257:99:4038,0,3326:127	0/1:164,136:300:99:4087,0,4617:127	0/1:116,116:232:99:3433,0,3417:127
10	5790420	.	T	C	26935.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=617;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2669142;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2669142" target="_blank">rs2669142</a>;ExAC.Info.AC=124430;ExAC.Info.AN=125988;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1521;ExAC.Info.AC_Hom=61022;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val1679Ala/c.5036T>C;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.5036T>C_p.Val1679Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.5036T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5790420">View</a>	GT:AD:DP:GQ:PL:TP	1|0:97,83:180:99:2428,0,2697:127	0|1:130,115:245:99:3338,0,3901:127	1|1:0,192:192:99:6628,577,0:127
10	5799613	.	A	G	4696.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=475;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275774;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275774" target="_blank">rs2275774</a>;ExAC.Info.AC=18908;ExAC.Info.AN=125234;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=15449;ExAC.Info.AC_Hom=1729;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys2288Arg/c.6863A>G;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.6863A>G_p.Lys2288Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.6863A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5799613">View</a>	GT:AD:DP:GQ:PL:TP	0|0:143,0:143:99:0,430,4739:127	0|1:86,87:173:99:2367,0,2354:127	0|0:159,0:159:99:0,478,5460:127
10	5803368	.	A	G	8843.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=369;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41290259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41290259" target="_blank">rs41290259</a>;ExAC.Info.AC=1335;ExAC.Info.AN=125192;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1323;ExAC.Info.AC_Hom=6;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile2370Val/c.7108A>G;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.7108A>G_p.Ile2370Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.7108A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5803368">View</a>	GT:AD:DP:GQ:PL:TP	0|1:66,54:120:99:1532,0,2068:127	1|0:74,60:134:99:1931,0,2108:127	0|0:115,0:115:99:0,346,3991:127
10	5804531	.	G	A	4038.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2797501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2797501" target="_blank">rs2797501</a>;ExAC.Info.AC=107354;ExAC.Info.AN=125086;ExAC.Info.AF=0.858;ExAC.Info.AC_Het=15057;ExAC.Info.AC_Hom=46014;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser2404Asn/c.7211G>A;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.7211G>A_p.Ser2404Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.7211G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5804531">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,13:28:99:323,0,397:127	0/1:32,25:57:99:714,0,895:127	0/1:20,28:48:99:842,0,533:127
10	5804633	.	T	TTC	1825.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs79988786;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79988786" target="_blank">rs79988786</a>;ExAC.Info.AC=26268;ExAC.Info.AN=125136;ExAC.Info.AF=0.210;ExAC.Info.AC_Het=20153;ExAC.Info.AC_Hom=2984;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7289+25_7289+26insTC;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.7289+25_7289+26dupTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.7289+25_7289+26dupTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5804633">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,154,2294:127	0|1:31,25:56:99:936,0,1230:127	0|0:49,0:49:99:0,148,2203:127
10	5805087	.	AAC	A	4101.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs139115917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139115917" target="_blank">rs139115917</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=93;snpeff.Amino_Acid_Change=c.*93_*94delAC;snpeff.Amino_Acid_length=2430;snpeff.Gene_Name=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328090;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000328090;SAVANT_GENE=FAM208B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM208B" target="_blank">FAM208B</a>;SAVANT_INFO=+/78.9kb/21/8.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*94_*95delCA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM208B+c.*94_*95delCA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5805087">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,15:28:99:590,0,508:127	0/1:12,16:28:99:636,0,484:127	0/1:11,15:26:99:597,0,443:127
10	5808086	.	G	A	3375.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1129614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1129614" target="_blank">rs1129614</a>;ExAC.Info.AC=22980;ExAC.Info.AN=126702;ExAC.Info.AF=0.181;ExAC.Info.AC_Het=18294;ExAC.Info.AC_Hom=2342;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr411Thr/c.1233C>T;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380132;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380191;SAVANT_GENE=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;SAVANT_INFO=-/48.3kb/11/2.4kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1221C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GDI2+c.1221C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5808086">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,301,3701:127	0|1:85,64:149:99:1706,0,2581:127	0|0:94,0:94:99:0,283,3613:127
10	5837038	.	T	C	4150.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10752110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10752110" target="_blank">rs10752110</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.266-56A>G;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380132;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380191;SAVANT_GENE=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;SAVANT_INFO=-/48.3kb/11/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.254-56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GDI2+c.254-56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5837038">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,28:64:99:808,0,1072:127	0|0:78,0:78:99:0,234,2721:127	1|0:37,32:69:99:1056,0,1094:127
10	5853767	.	T	C	8628.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1567706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1567706" target="_blank">rs1567706</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.57+70A>G;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380132;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380191;SAVANT_GENE=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;SAVANT_INFO=-/48.3kb/11/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.45+1410A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GDI2+c.45+1410A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5853767">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,13:31:99:381,0,561:127	1|1:0,77:77:99:2790,231,0:127	0|1:43,26:69:99:745,0,1290:127
10	5853817	.	G	C	11191.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1567707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1567707" target="_blank">rs1567707</a>;ExAC.Info.AC=6520;ExAC.Info.AN=19656;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=3964;ExAC.Info.AC_Hom=1106;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.57+20C>G;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380132;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380191;SAVANT_GENE=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;SAVANT_INFO=-/48.3kb/11/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.45+1360C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GDI2+c.45+1360C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5853817">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,20:47:99:512,0,741:127	1|1:0,98:98:99:3477,295,0:127	0|1:58,37:95:99:1015,0,1550:127
10	5855168	.	G	A	3489.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs118084745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=118084745" target="_blank">rs118084745</a>;ExAC.Info.AC=1412;ExAC.Info.AN=123786;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=979;ExAC.Info.AC_Hom=10;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-27+9C>T;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380132;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380191;SAVANT_GENE=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;SAVANT_INFO=-/48.3kb/11/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.45+9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GDI2+c.45+9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5855168">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,26:41:99:687,0,448:72	1|0:20,26:46:99:672,0,653:72	0|0:24,0:24:72:0,72,953:72
10	5855225	.	G	A	1172.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3736460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736460" target="_blank">rs3736460</a>;ExAC.Info.AC=13174;ExAC.Info.AN=123606;ExAC.Info.AF=0.107;ExAC.Info.AC_Het=10388;ExAC.Info.AC_Hom=688;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1332;snpeff.Amino_Acid_Change=c.-75C>T;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380132;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380132;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380191;SAVANT_GENE=GDI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI2" target="_blank">GDI2</a>;SAVANT_INFO=-/48.3kb/11/2.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GDI2+c.-4C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5855225">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1813:127	0|0:72,0:72:99:0,216,2365:127	0|1:31,23:54:99:605,0,877:127
10	5920121	.	T	C	30287.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1052420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052420" target="_blank">rs1052420</a>;ExAC.Info.AC=108011;ExAC.Info.AN=126702;ExAC.Info.AF=0.852;ExAC.Info.AC_Het=15437;ExAC.Info.AC_Hom=46272;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln353Arg/c.1058A>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380094;SAVANT_GENE=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;SAVANT_INFO=-/28.2kb/8/2.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1058A>G_p.Gln353Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD16+c.1058A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5920121">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3548,310,0:127	1|1:0,138:138:99:4602,415,0:127	1|1:0,124:124:99:4232,373,0:127
10	5924942	.	C	G	33413.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs617165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=617165" target="_blank">rs617165</a>;ExAC.Info.AC=110164;ExAC.Info.AN=126690;ExAC.Info.AF=0.870;ExAC.Info.AC_Het=13872;ExAC.Info.AC_Hom=47657;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.849+27G>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850C>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850C>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380094;SAVANT_GENE=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;SAVANT_INFO=-/28.2kb/8/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.849+27G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD16+c.849+27G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5924942">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4381,367,0:127	1|1:0,143:143:99:4987,430,0:127	1|1:0,125:125:99:4737,376,0:127
10	5925971	.	C	A	37197.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=480;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs631947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=631947" target="_blank">rs631947</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=114760;ExAC.Info.AN=126704;ExAC.Info.AF=0.906;ExAC.Info.AC_Het=10642;ExAC.Info.AC_Hom=52046;snpeff.Effect=sequence_feature[repeat:ANK_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648C>A;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648C>A;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggT;snpeff.Amino_Acid_Change=p.Gly216Gly/c.648G>T;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380094;SAVANT_GENE=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;SAVANT_INFO=-/28.2kb/8/2.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.648G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD16+c.648G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5925971">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:3834,372,0:127	1|1:0,196:196:99:6539,589,0:127	1|1:0,160:160:99:5333,481,0:127
10	5926079	.	A	C	20261.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3750657;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750657" target="_blank">rs3750657</a>;ExAC.Info.AC=52753;ExAC.Info.AN=126540;ExAC.Info.AF=0.417;ExAC.Info.AC_Het=27534;ExAC.Info.AC_Hom=10716;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.579-39T>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.579A>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.579A>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.579A>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380094;SAVANT_GENE=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;SAVANT_INFO=-/28.2kb/8/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.579-39T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD16+c.579-39T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5926079">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1910,165,0:127	1|1:2,98:100:99:3471,251,0:127	1|1:0,77:77:99:2708,231,0:127
10	5926080	.	T	C	28054.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3750658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750658" target="_blank">rs3750658</a>;ExAC.Info.AC=52753;ExAC.Info.AN=126534;ExAC.Info.AF=0.417;ExAC.Info.AC_Het=27446;ExAC.Info.AC_Hom=10684;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.579-40A>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.579T>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.579T>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.579T>C;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380092;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380094;SAVANT_GENE=ANKRD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD16" target="_blank">ANKRD16</a>;SAVANT_INFO=-/28.2kb/8/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.579-40A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD16+c.579-40A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5926080">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2659,181,0:127	1|1:0,102:102:99:4598,313,0:127	1|1:0,81:81:99:3710,250,0:127
10	5936425	.	C	G	41933.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=938;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs12781700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12781700" target="_blank">rs12781700</a>;ExAC.Info.AC=35342;ExAC.Info.AN=126704;ExAC.Info.AF=0.279;ExAC.Info.AC_Het=23814;ExAC.Info.AC_Hom=5755;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=28;snpeff.Amino_Acid_Change=c.-28C>G;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379999;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379999;SAVANT_GENE=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;SAVANT_INFO=+/43.2kb/22/3.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-28C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO18+c.-28C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5936425">View</a>	GT:AD:DP:GQ:PL:TP	1|0:158,139:297:99:4010,0,4372:127	0|1:163,159:322:99:4690,0,4907:127	1|1:0,319:319:99:11236,959,0:127
10	5948638	.	C	T	21205.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=482;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7082434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7082434" target="_blank">rs7082434</a>;ExAC.Info.AC=32882;ExAC.Info.AN=126044;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=21028;ExAC.Info.AC_Hom=4789;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.906+43C>T;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379999;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379999;SAVANT_GENE=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;SAVANT_INFO=+/43.2kb/22/3.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.906+43C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO18+c.906+43C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5948638">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,81:154:99:2248,0,2019:127	0|1:87,90:177:99:2577,0,2483:127	1|1:0,151:151:99:5144,454,0:127
10	5952854	.	C	T	12525.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7067928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7067928" target="_blank">rs7067928</a>;ExAC.Info.AC=33187;ExAC.Info.AN=126526;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=21533;ExAC.Info.AC_Hom=4745;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1174-47C>T;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379999;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379999;SAVANT_GENE=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;SAVANT_INFO=+/43.2kb/22/3.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1174-47C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO18+c.1174-47C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5952854">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,40:84:99:1084,0,1256:127	0|1:45,64:109:99:1733,0,1292:127	1|1:0,81:81:99:2896,244,0:127
10	5957352	.	C	T	4095.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41290313;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41290313" target="_blank">rs41290313</a>;ExAC.Info.AC=9548;ExAC.Info.AN=126698;ExAC.Info.AF=0.075;ExAC.Info.AC_Het=8618;ExAC.Info.AC_Hom=434;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1550-14C>T;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379999;SAVANT_GENE=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;SAVANT_INFO=+/43.2kb/22/3.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1550-14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO18+c.1550-14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5957352">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,24:48:99:668,0,644:125	1|0:29,37:66:99:1193,0,918:125	0|0:42,0:42:99:0,126,1551:125
10	5957602	.	C	T	9235.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=460;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61834496;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61834496" target="_blank">rs61834496</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1718+68C>T;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379999;SAVANT_GENE=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;SAVANT_INFO=+/43.2kb/22/3.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1718+68C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO18+c.1718+68C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5957602">View</a>	GT:AD:DP:GQ:PL:TP	0|1:83,63:146:99:1686,0,2175:127	1|0:89,81:170:99:2298,0,2486:127	0|0:144,0:144:99:0,433,4721:127
10	5966806	.	G	A	6652.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs55639163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55639163" target="_blank">rs55639163</a>;ExAC.Info.AC=1047;ExAC.Info.AN=21236;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=335;ExAC.Info.AC_Hom=21;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2749+335G>A;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379999;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379999;SAVANT_GENE=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;SAVANT_INFO=+/43.2kb/22/3.7kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2749+335G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO18+c.2749+335G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5966806">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,46:102:99:1268,0,1628:127	1|0:47,46:93:99:1275,0,1453:127	0|0:76,0:76:99:0,228,2683:127
10	5966854	.	G	A	7936.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11594794;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11594794" target="_blank">rs11594794</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2749+383G>A;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379999;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379999;SAVANT_GENE=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;SAVANT_INFO=+/43.2kb/22/3.7kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2749+383G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO18+c.2749+383G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5966854">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,62:136:99:1365,0,2026:127	1|0:79,58:137:99:1455,0,2136:127	0|0:112,0:112:99:0,336,3616:127
10	5978411	.	T	C	9594.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs646406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=646406" target="_blank">rs646406</a>;ExAC.Info.AC=108172;ExAC.Info.AN=126684;ExAC.Info.AF=0.854;ExAC.Info.AC_Het=15410;ExAC.Info.AC_Hom=46355;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1308A>G;snpeff.Gene_Name=RP11-536K7.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-536K73" target="_blank">RP11-536K73</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000397264;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2983-8T>C;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-536K73" target="_blank">RP11-536K73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379999;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2983T>C;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-536K73" target="_blank">RP11-536K73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379999;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379999;SAVANT_GENE=FBXO18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO18" target="_blank">FBXO18</a>;SAVANT_INFO=+/43.2kb/22/3.7kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2983-8T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO18+c.2983-8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5978411">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1422,120,0:104	1|1:0,35:35:99:1302,105,0:104	1|1:0,41:41:99:1488,123,0:104
10	5998285	.	G	A	1574.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3136627;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3136627" target="_blank">rs3136627</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.692+57C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.693G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.693G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379977;SAVANT_GENE=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;SAVANT_INFO=-/25.2kb/7/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.692+57C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL15RA+c.692+57C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:5998285">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2123:127	0|1:30,27:57:99:806,0,904:127	0|0:69,0:69:99:0,207,2578:127
10	6000259	.	T	C	6024.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=575;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17320853;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17320853" target="_blank">rs17320853</a>;ExAC.Info.AC=2153;ExAC.Info.AN=14952;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=1570;ExAC.Info.AC_Hom=170;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.616+1458A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617T>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617T>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379977;SAVANT_GENE=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;SAVANT_INFO=-/25.2kb/7/1.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.616+1458A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL15RA+c.616+1458A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6000259">View</a>	GT:AD:DP:GQ:PL:TP	0|0:197,0:197:99:0,591,6025:127	0|1:105,112:217:99:3031,0,2852:127	0|0:161,0:161:99:0,484,5355:127
10	6001696	.	C	T	1770.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3136618;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3136618" target="_blank">rs3136618</a>;ExAC.Info.AC=64111;ExAC.Info.AN=126700;ExAC.Info.AF=0.506;ExAC.Info.AC_Het=30825;ExAC.Info.AC_Hom=16339;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.616+21G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379977;SAVANT_GENE=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;SAVANT_INFO=-/25.2kb/7/1.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.616+21G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL15RA+c.616+21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6001696">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1982:116	0|1:38,31:69:99:904,0,1054:116	0|0:39,0:39:99:0,117,1422:116
10	6002368	.	T	G	3106.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2228059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228059" target="_blank">rs2228059</a>;ExAC.Info.AC=64729;ExAC.Info.AN=126704;ExAC.Info.AF=0.511;ExAC.Info.AC_Het=30699;ExAC.Info.AC_Hom=17012;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.545T>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.545T>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.545T>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.545T>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aCc;snpeff.Amino_Acid_Change=p.Asn182Thr/c.545A>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379977;SAVANT_GENE=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;SAVANT_INFO=-/25.2kb/7/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.545A>C_p.Asn182Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL15RA+c.545A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6002368">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,0:111:99:0,333,3528:127	0|1:48,56:104:99:1572,0,1375:127	0|0:94,0:94:99:0,282,3121:127
10	6005674	.	G	A	16352.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3136614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3136614" target="_blank">rs3136614</a>;ExAC.Info.AC=105345;ExAC.Info.AN=126572;ExAC.Info.AF=0.832;ExAC.Info.AC_Het=15472;ExAC.Info.AC_Hom=40817;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.382+32C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.383G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.383G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.383G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.383G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379977;SAVANT_GENE=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;SAVANT_INFO=-/25.2kb/7/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.382+32C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL15RA+c.382+32C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6005674">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2001,183,0:127	1|1:0,53:53:99:1834,159,0:127	1|1:0,87:87:99:2827,261,0:127
10	6008172	.	C	T	18918.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2296139;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296139" target="_blank">rs2296139</a>;ExAC.Info.AC=20240;ExAC.Info.AN=126702;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=16321;ExAC.Info.AC_Hom=1939;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr73Thr/c.219G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379977;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379977;SAVANT_GENE=IL15RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL15RA" target="_blank">IL15RA</a>;SAVANT_INFO=-/25.2kb/7/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.219G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL15RA+c.219G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6008172">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2714,234,0:127	1|0:38,46:84:99:1243,0,1060:127	1|1:0,99:99:99:3407,297,0:127
10	6041873	.	C	T	2914.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11596136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11596136" target="_blank">rs11596136</a>;ExAC.Info.AC=29525;ExAC.Info.AN=117206;ExAC.Info.AF=0.252;ExAC.Info.AC_Het=20593;ExAC.Info.AC_Hom=3610;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11596136" target="_blank">rs11596136</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6041873">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,340,3944:127	0|1:60,51:111:99:1476,0,1870:127	0|0:86,0:86:99:0,258,2948:127
10	6041923	.	T	C	3746.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10905599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10905599" target="_blank">rs10905599</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10905599" target="_blank">rs10905599</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6041923">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,336,3446:127	0|1:62,59:121:99:1892,0,1719:127	0|0:86,0:86:99:0,258,2814:127
10	6054912	.	AT	A	5123.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=451;MQ=70.03;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Interleukin-2_receptor|_alpha_chain|_deficiency_of|_606367_(3)|_{Diabetes|_mellitus|_insulin-dependent|_susceptibility_to|_10}|_601942_(3);dbSNP139.ID=rs12722599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12722599" target="_blank">rs12722599</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.795-54delA;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.795delT;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.795delT;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000379959;SAVANT_GENE=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;SAVANT_INFO=-/51.6kb/8/3.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.795-54delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL2RA+c.795-54delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6054912">View</a>	GT:AD:DP:GQ:PL:TP	0|0:143,3:146:99:0,335,5629:127	0|0:167,0:167:99:0,502,6631:127	0|1:63,75:138:99:2585,0,2105:127
10	6061479	.	A	C	1666.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Interleukin-2_receptor|_alpha_chain|_deficiency_of|_606367_(3)|_{Diabetes|_mellitus|_insulin-dependent|_susceptibility_to|_10}|_601942_(3);dbSNP139.ID=rs28360490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28360490" target="_blank">rs28360490</a>;ExAC.Info.AC=11671;ExAC.Info.AN=126700;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=10347;ExAC.Info.AC_Hom=662;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.656-17T>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379959;SAVANT_GENE=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;SAVANT_INFO=-/51.6kb/8/3.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.656-17T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL2RA+c.656-17T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6061479">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2071:127	0|0:87,0:87:99:0,261,2865:127	0|1:33,27:60:99:852,0,981:127
10	6061499	.	C	T	1012.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Interleukin-2_receptor|_alpha_chain|_deficiency_of|_606367_(3)|_{Diabetes|_mellitus|_insulin-dependent|_susceptibility_to|_10}|_601942_(3);dbSNP139.ID=rs28360489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28360489" target="_blank">rs28360489</a>;ExAC.Info.AC=11658;ExAC.Info.AN=126704;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=10332;ExAC.Info.AC_Hom=660;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.656-37G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656C>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656C>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656C>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656C>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656C>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656C>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379959;SAVANT_GENE=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;SAVANT_INFO=-/51.6kb/8/3.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.656-37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL2RA+c.656-37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6061499">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1452:125	0|0:68,0:68:99:0,204,2321:125	0|1:27,19:46:99:525,0,796:125
10	6061781	.	T	C	15052.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Interleukin-2_receptor|_alpha_chain|_deficiency_of|_606367_(3)|_{Diabetes|_mellitus|_insulin-dependent|_susceptibility_to|_10}|_601942_(3);dbSNP139.ID=rs10752175;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10752175" target="_blank">rs10752175</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.655+52A>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379959;SAVANT_GENE=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;SAVANT_INFO=-/51.6kb/8/3.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.655+52A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL2RA+c.655+52A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6061781">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,48:103:99:1455,0,1582:127	1|1:2,112:114:99:3868,293,0:127	0|1:45,47:92:99:1327,0,1162:127
10	6063508	.	G	A	13478.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=664;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Interleukin-2_receptor|_alpha_chain|_deficiency_of|_606367_(3)|_{Diabetes|_mellitus|_insulin-dependent|_susceptibility_to|_10}|_601942_(3);dbSNP139.ID=rs2228149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228149" target="_blank">rs2228149</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=7597;ExAC.Info.AN=126704;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=6519;ExAC.Info.AC_Hom=539;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His172His/c.516C>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379959;SAVANT_GENE=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;SAVANT_INFO=-/51.6kb/8/3.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.516C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL2RA+c.516C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6063508">View</a>	GT:AD:DP:GQ:PL:TP	1|0:108,94:202:99:2600,0,3042:127	0|0:264,0:264:99:0,793,8788:127	1|0:96,102:198:99:2710,0,2681:127
10	6063674	.	T	C	25685.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Interleukin-2_receptor|_alpha_chain|_deficiency_of|_606367_(3)|_{Diabetes|_mellitus|_insulin-dependent|_susceptibility_to|_10}|_601942_(3);dbSNP139.ID=rs942200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=942200" target="_blank">rs942200</a>;ExAC.Info.AC=119963;ExAC.Info.AN=126702;ExAC.Info.AF=0.947;ExAC.Info.AC_Het=5578;ExAC.Info.AC_Hom=57145;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.368-18A>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379959;SAVANT_GENE=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;SAVANT_INFO=-/51.6kb/8/3.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.368-18A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL2RA+c.368-18A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6063674">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3768,319,0:127	1|1:0,125:125:99:4456,376,0:127	1|1:0,92:92:99:3280,277,0:127
10	6066195	.	T	A	10690.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=568;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Interleukin-2_receptor|_alpha_chain|_deficiency_of|_606367_(3)|_{Diabetes|_mellitus|_insulin-dependent|_susceptibility_to|_10}|_601942_(3);dbSNP139.ID=rs12358961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12358961" target="_blank">rs12358961</a>;ExAC.Info.AC=45494;ExAC.Info.AN=126702;ExAC.Info.AF=0.359;ExAC.Info.AC_Het=27377;ExAC.Info.AC_Hom=9010;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.367+12A>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>A;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379959;SAVANT_GENE=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;SAVANT_INFO=-/51.6kb/8/3.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.367+12A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL2RA+c.367+12A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6066195">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,73:155:99:2157,0,3308:127	0|0:225,0:225:99:0,683,8835:127	1|0:110,78:188:99:2181,0,3364:127
10	6066200	.	C	G	13832.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=587;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Interleukin-2_receptor|_alpha_chain|_deficiency_of|_606367_(3)|_{Diabetes|_mellitus|_insulin-dependent|_susceptibility_to|_10}|_601942_(3);dbSNP139.ID=rs11256369;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11256369" target="_blank">rs11256369</a>;ExAC.Info.AC=27147;ExAC.Info.AN=126704;ExAC.Info.AF=0.214;ExAC.Info.AC_Het=20687;ExAC.Info.AC_Hom=3213;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.367+7G>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368C>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368C>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368C>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368C>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sushi_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368C>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368C>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368C>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368C>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368C>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368C>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368C>G;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368G>C;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379959;SAVANT_GENE=IL2RA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RA" target="_blank">IL2RA</a>;SAVANT_INFO=-/51.6kb/8/3.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.367+7G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IL2RA+c.367+7G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6066200">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,87:164:99:2731,0,2923:127	1|0:125,105:230:99:3283,0,3797:127	0|0:192,1:193:99:0,548,7721:127
10	6156118	.	T	C	20641.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10795823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10795823" target="_blank">rs10795823</a>;ExAC.Info.AC=125949;ExAC.Info.AN=126684;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=636;ExAC.Info.AC_Hom=60169;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1029+8T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=RBM17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM17" target="_blank">RBM17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446108;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1030T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=RBM17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM17" target="_blank">RBM17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446108;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000446108;SAVANT_GENE=RBM17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM17" target="_blank">RBM17</a>;SAVANT_INFO=+/28.1kb/12/3.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1029+8T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM17+c.1029+8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6156118">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2277,210,0:127	1|1:0,79:79:99:2697,237,0:127	1|1:0,102:102:99:3478,306,0:127
10	6245317	.	G	T	4060.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6602514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6602514" target="_blank">rs6602514</a>;ExAC.Info.AC=32890;ExAC.Info.AN=125364;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=21153;ExAC.Info.AC_Hom=3978;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.119-10269G>T;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=PFKFB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB3" target="_blank">PFKFB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379775;SAVANT_GENE=PFKFB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB3" target="_blank">PFKFB3</a>;SAVANT_INFO=+/32.6kb/15/4.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.76+18G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKFB3+c.76+18G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6245317">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,15:31:99:349,0,444:92	1|1:0,38:38:99:1341,114,0:92	0|0:31,0:31:93:0,93,1187:92
10	6258052	.	G	A	14145.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2148294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2148294" target="_blank">rs2148294</a>;ExAC.Info.AC=113332;ExAC.Info.AN=126684;ExAC.Info.AF=0.895;ExAC.Info.AC_Het=10490;ExAC.Info.AC_Hom=51191;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.342-36G>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=PFKFB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB3" target="_blank">PFKFB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540253;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379775;SAVANT_GENE=PFKFB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB3" target="_blank">PFKFB3</a>;SAVANT_INFO=+/32.6kb/15/4.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.300-36G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKFB3+c.300-36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6258052">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2154,189,0:127	1|0:36,34:70:99:1075,0,1041:127	1|1:0,62:62:99:2401,187,0:127
10	6273170	.	C	CT	3728.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=276;MQ=70.04;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35890201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35890201" target="_blank">rs35890201</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1558-1687_1558-1686insT;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=PFKFB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB3" target="_blank">PFKFB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540253;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000379775;SAVANT_GENE=PFKFB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PFKFB3" target="_blank">PFKFB3</a>;SAVANT_INFO=+/32.6kb/15/4.5kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1516-1677dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PFKFB3+c.1516-1677dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6273170">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,21:74:99:326,0,1106:127	1|0:61,48:109:99:934,0,1350:127	0|0:93,0:93:99:0,277,2454:127
10	6472891	.	G	T	8225.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs11258747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11258747" target="_blank">rs11258747</a>;ExAC.Info.AC=23001;ExAC.Info.AN=126698;ExAC.Info.AF=0.182;ExAC.Info.AC_Het=18249;ExAC.Info.AC_Hom=2322;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846G>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846G>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846G>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846G>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846G>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846G>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846G>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cga/Aga;snpeff.Amino_Acid_Change=p.Arg616Arg/c.1846C>A;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263125;SAVANT_GENE=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;SAVANT_INFO=-/153.2kb/18/3.3kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1846C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKCQ+c.1846C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6472891">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,59:126:99:1619,0,1833:127	1|0:75,60:135:99:1701,0,2241:127	0|0:97,0:97:99:0,291,3367:127
10	6498723	.	G	A	6063.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11258943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11258943" target="_blank">rs11258943</a>;ExAC.Info.AC=23353;ExAC.Info.AN=126702;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=18582;ExAC.Info.AC_Hom=2375;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1560G>A;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1560G>A;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1560G>A;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1560G>A;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1560G>A;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1560G>A;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1560G>A;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1560G>A;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile520Ile/c.1560C>T;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263125;SAVANT_GENE=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;SAVANT_INFO=-/153.2kb/18/3.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1560C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKCQ+c.1560C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6498723">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,52:95:99:1382,0,999:127	1|0:59,51:110:99:1302,0,1591:127	0|0:89,0:89:99:0,267,3084:127
10	6553071	.	T	C	1968.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17555072;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17555072" target="_blank">rs17555072</a>;ExAC.Info.AC=6800;ExAC.Info.AN=126704;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=6331;ExAC.Info.AC_Hom=235;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.204T>C;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.204T>C;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.204T>C;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg68Arg/c.204A>G;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263125;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263125;SAVANT_GENE=PRKCQ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCQ" target="_blank">PRKCQ</a>;SAVANT_INFO=-/153.2kb/18/3.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.204A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKCQ+c.204A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:6553071">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,237,2562:127	0|0:71,0:71:99:0,213,2496:127	0|1:36,33:69:99:1003,0,1029:127
10	7205717	.	C	G	2068.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2692756;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2692756" target="_blank">rs2692756</a>;ExAC.Info.AC=10443;ExAC.Info.AN=126696;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=9382;ExAC.Info.AC_Hom=510;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.*15G>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=SFMBT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFMBT2" target="_blank">SFMBT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361972;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361972;SAVANT_GENE=SFMBT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFMBT2" target="_blank">SFMBT2</a>;SAVANT_INFO=-/250.7kb/21/7.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*15G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFMBT2+c.*15G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7205717">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,252,2932:127	0|0:107,0:107:99:0,322,3865:127	0|1:36,39:75:99:1053,0,1009:127
10	7285632	.	A	G	23577.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2248474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2248474" target="_blank">rs2248474</a>;ExAC.Info.AC=115364;ExAC.Info.AN=126702;ExAC.Info.AF=0.911;ExAC.Info.AC_Het=10132;ExAC.Info.AC_Hom=52563;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp336Asp/c.1008T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=SFMBT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFMBT2" target="_blank">SFMBT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361972;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361972;SAVANT_GENE=SFMBT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFMBT2" target="_blank">SFMBT2</a>;SAVANT_INFO=-/250.7kb/21/7.9kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1008T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFMBT2+c.1008T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7285632">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3196,288,0:127	1|1:0,103:103:99:3616,310,0:127	1|1:0,91:91:99:3041,273,0:127
10	7318803	.	T	C	19399.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=216;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7097601;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7097601" target="_blank">rs7097601</a>;ExAC.Info.AC=75059;ExAC.Info.AN=126668;ExAC.Info.AF=0.593;ExAC.Info.AC_Het=27545;ExAC.Info.AC_Hom=23358;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.870+51A>G;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=SFMBT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFMBT2" target="_blank">SFMBT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361972;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361972;SAVANT_GENE=SFMBT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFMBT2" target="_blank">SFMBT2</a>;SAVANT_INFO=-/250.7kb/21/7.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.870+51A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFMBT2+c.870+51A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7318803">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2201,177,0:127	1|1:0,92:92:99:3298,277,0:127	1|1:0,65:65:99:2524,196,0:127
10	7390214	.	G	A	4589.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1749361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1749361" target="_blank">rs1749361</a>;ExAC.Info.AC=988;ExAC.Info.AN=21448;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=774;ExAC.Info.AC_Hom=42;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.436+19397C>T;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=SFMBT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFMBT2" target="_blank">SFMBT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361972;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361972;SAVANT_GENE=SFMBT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFMBT2" target="_blank">SFMBT2</a>;SAVANT_INFO=-/250.7kb/21/7.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.436+19397C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFMBT2+c.436+19397C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7390214">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,30:59:99:732,0,805:127	0|0:82,0:82:99:0,246,2719:127	1|0:45,32:77:99:903,0,1334:127
10	7390300	.	A	G	4025.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1751658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1751658" target="_blank">rs1751658</a>;ExAC.Info.AC=2436;ExAC.Info.AN=20890;ExAC.Info.AF=0.117;ExAC.Info.AC_Het=1824;ExAC.Info.AC_Hom=209;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.436+19311T>C;snpeff.Amino_Acid_length=894;snpeff.Gene_Name=SFMBT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFMBT2" target="_blank">SFMBT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361972;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361972;SAVANT_GENE=SFMBT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFMBT2" target="_blank">SFMBT2</a>;SAVANT_INFO=-/250.7kb/21/7.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.436+19311T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFMBT2+c.436+19311T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7390300">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,28:55:99:715,0,780:127	0|0:70,0:70:99:0,210,2428:127	1|0:30,30:60:99:850,0,872:127
10	7605067	.	C	T	11654.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=141;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3824658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824658" target="_blank">rs3824658</a>;ExAC.Info.AC=87479;ExAC.Info.AN=126674;ExAC.Info.AF=0.691;ExAC.Info.AC_Het=25334;ExAC.Info.AC_Hom=31068;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro936Pro/c.2808G>A;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256861;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256861;SAVANT_GENE=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;SAVANT_INFO=-/107.7kb/14/6.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2808G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH5+c.2808G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7605067">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1425,120,0:120	1|1:0,63:63:99:2306,189,0:120	1|0:18,20:38:99:538,0,504:120
10	7605077	.	TC	T	15941.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=167;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs61199416;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61199416" target="_blank">rs61199416</a>;ExAC.Info.AC=122733;ExAC.Info.AN=126704;ExAC.Info.AF=0.969;ExAC.Info.AC_Het=3017;ExAC.Info.AC_Hom=59856;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=gac/;snpeff.Amino_Acid_Change=p.Asp933fs/c.2797delG;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256861;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000256861;SAVANT_GENE=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;SAVANT_INFO=-/107.7kb/14/6.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2797delG;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH5+c.2797delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7605077">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1985,160,0:127	1|1:0,70:70:99:2613,211,0:127	1|1:0,44:44:99:1645,132,0:127
10	7605101	.	A	G	18574.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10795551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10795551" target="_blank">rs10795551</a>;ExAC.Info.AC=125573;ExAC.Info.AN=126704;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=1045;ExAC.Info.AC_Hom=62264;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tCc;snpeff.Amino_Acid_Change=p.Phe925Ser/c.2774T>C;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256861;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256861;SAVANT_GENE=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;SAVANT_INFO=-/107.7kb/14/6.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2774T>C_p.Phe925Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH5+c.2774T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7605101">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2436,213,0:127	1|1:0,82:82:99:2983,247,0:127	1|1:0,59:59:99:2100,177,0:127
10	7615195	.	C	A	9184.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4747517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4747517" target="_blank">rs4747517</a>;ExAC.Info.AC=52507;ExAC.Info.AN=126700;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=29464;ExAC.Info.AC_Hom=11354;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1979-37G>T;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256861;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256861;SAVANT_GENE=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;SAVANT_INFO=-/107.7kb/14/6.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1979-37G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH5+c.1979-37G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7615195">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,44:73:99:1412,0,838:127	0/1:68,55:123:99:1626,0,2105:127	0/1:47,44:91:99:1260,0,1497:127
10	7618501	.	A	G	6836.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2275068;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275068" target="_blank">rs2275068</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=69154;ExAC.Info.AN=126618;ExAC.Info.AF=0.546;ExAC.Info.AC_Het=29961;ExAC.Info.AC_Hom=19142;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp631Asp/c.1893T>C;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256861;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256861;SAVANT_GENE=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;SAVANT_INFO=-/107.7kb/14/6.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1893T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH5+c.1893T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7618501">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,28:48:99:791,0,534:127	0/1:36,37:73:99:1031,0,1052:127	0/1:35,26:61:99:693,0,1018:127
10	7618686	.	T	G	14198.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275069;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275069" target="_blank">rs2275069</a>;ExAC.Info.AC=69313;ExAC.Info.AN=126702;ExAC.Info.AF=0.547;ExAC.Info.AC_Het=30308;ExAC.Info.AC_Hom=19445;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Ccc;snpeff.Amino_Acid_Change=p.Thr570Pro/c.1708A>C;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256861;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256861;SAVANT_GENE=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;SAVANT_INFO=-/107.7kb/14/6.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1708A>C_p.Thr570Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH5+c.1708A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7618686">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,54:109:99:1497,0,1474:127	0/1:85,86:171:99:2481,0,2467:127	0/1:56,69:125:99:1971,0,1511:127
10	7658041	.	C	T	2814.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72779162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72779162" target="_blank">rs72779162</a>;ExAC.Info.AC=440;ExAC.Info.AN=126704;ExAC.Info.AF=3.473e-03;ExAC.Info.AC_Het=435;ExAC.Info.AC_Hom=2;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val281Val/c.843G>A;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256861;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256861;SAVANT_GENE=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;SAVANT_INFO=-/107.7kb/14/6.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.843G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH5+c.843G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7658041">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,303,3404:127	0|1:54,55:109:99:1426,0,1505:127	0|0:80,0:80:99:0,240,2891:127
10	7679393	.	C	T	6656.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs6602256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6602256" target="_blank">rs6602256</a>;ExAC.Info.AC=46864;ExAC.Info.AN=126704;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=27887;ExAC.Info.AC_Hom=9475;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys150Lys/c.450G>A;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256861;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256861;SAVANT_GENE=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;SAVANT_INFO=-/107.7kb/14/6.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.450G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH5+c.450G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7679393">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,255,3008:127	0|1:42,58:100:99:1700,0,1305:127	0|1:47,59:106:99:1648,0,1338:127
10	7682870	.	C	G	13662.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=752;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs17142884;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17142884" target="_blank">rs17142884</a>;ExAC.Info.AC=20075;ExAC.Info.AN=126688;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=16457;ExAC.Info.AC_Hom=1802;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.300-52G>C;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256861;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256861;SAVANT_GENE=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;SAVANT_INFO=-/107.7kb/14/6.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.300-52G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH5+c.300-52G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7682870">View</a>	GT:AD:DP:GQ:PL:TP	0|0:238,0:238:99:0,718,8560:127	0|1:149,129:278:99:3718,0,4470:127	0|1:122,114:236:99:3154,0,3755:127
10	7697504	.	G	A	10289.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=496;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11255267;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11255267" target="_blank">rs11255267</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.135+90C>T;snpeff.Amino_Acid_length=956;snpeff.Gene_Name=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256861;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256861;SAVANT_GENE=ITIH5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH5" target="_blank">ITIH5</a>;SAVANT_INFO=-/107.7kb/14/6.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.135+90C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH5+c.135+90C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7697504">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,69:145:99:1898,0,2256:127	0|0:186,0:186:99:0,559,6793:127	1|0:78,87:165:99:2612,0,2960:127
10	7755088	.	GA	G	189.5	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=303;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.363-55delA;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITIH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH2" target="_blank">ITIH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358415;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VIT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.363delA;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITIH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH2" target="_blank">ITIH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358415;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VIT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.363delA;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITIH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH2" target="_blank">ITIH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358415;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VIT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.363delA;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITIH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH2" target="_blank">ITIH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358415;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VIT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.363delA;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITIH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH2" target="_blank">ITIH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358415;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000358415;SAVANT_GENE=ITIH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH2" target="_blank">ITIH2</a>;SAVANT_INFO=+/46.3kb/21/3.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.363-44delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH2+c.363-44delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7755088">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,10:106:99:0,131,2326:41	0|0:98,11:109:55:0,55,2310:41	0|1:77,11:88:42:42,0,1784:41
10	7763661	.	A	G	27900.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7075296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7075296" target="_blank">rs7075296</a>;ExAC.Info.AC=126371;ExAC.Info.AN=126704;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=327;ExAC.Info.AC_Hom=63019;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.788A>G;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITIH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH2" target="_blank">ITIH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358415;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn263Ser/c.788A>G;snpeff.Amino_Acid_length=946;snpeff.Gene_Name=ITIH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH2" target="_blank">ITIH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358415;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358415;SAVANT_GENE=ITIH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITIH2" target="_blank">ITIH2</a>;SAVANT_INFO=+/46.3kb/21/3.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.788A>G_p.Asn263Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITIH2+c.788A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7763661">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2845,243,0:127	1|1:0,136:136:99:4701,409,0:127	1|1:0,99:99:99:3429,297,0:127
10	7795911	.	A	G	21089.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7342066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7342066" target="_blank">rs7342066</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2132;snpeff.Amino_Acid_Change=c.*2132T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIN+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7795911">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,80:133:99:2222,0,1441:127	1|1:0,155:155:99:5096,465,0:127	0|1:60,71:131:99:2015,0,1744:127
10	7798150	.	C	T	1150.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41290295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41290295" target="_blank">rs41290295</a>;ExAC.Info.AC=25433;ExAC.Info.AN=125656;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=16966;ExAC.Info.AC_Hom=2304;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1120-45G>A;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1120C>T;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1120C>T;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1120C>T;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379562;SAVANT_GENE=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;SAVANT_INFO=-/32.8kb/13/2.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1120-45G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIN+c.1120-45G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7798150">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1724:127	0|0:55,0:55:99:0,165,2030:127	0|1:22,21:43:99:594,0,630:127
10	7804308	.	C	T	3694.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1980856;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1980856" target="_blank">rs1980856</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1018+112G>A;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1019C>T;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1019C>T;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1019C>T;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379562;SAVANT_GENE=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;SAVANT_INFO=-/32.8kb/13/2.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1018+112G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIN+c.1018+112G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7804308">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,6:17:99:165,0,397:104	1|1:0,35:35:99:1248,105,0:104	0|1:12,5:17:99:137,0,442:104
10	7804390	.	A	G	1423.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;dbSNP139.ID=rs200927513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200927513" target="_blank">rs200927513</a>;ExAC.Info.AC=4;ExAC.Info.AN=126676;ExAC.Info.AF=3.158e-05;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1018+30T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1019A>G;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1019A>G;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1019A>G;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379562;SAVANT_GENE=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;SAVANT_INFO=-/32.8kb/13/2.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1018+30T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIN+c.1018+30T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7804390">View</a>	GT:AD:DP:GQ:PL:TP	0/1:54,13:67:99:302,0,1561:127	0/0:123,0:123:99:0,370,4181:127	0/0:70,0:70:99:0,210,2287:127
10	7808086	.	T	C	1686.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3736968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736968" target="_blank">rs3736968</a>;ExAC.Info.AC=46726;ExAC.Info.AN=126674;ExAC.Info.AF=0.369;ExAC.Info.AC_Het=28966;ExAC.Info.AC_Hom=8816;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.799-20A>G;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799T>C;snpeff.Amino_Acid_length=393;snpeff.Gene_Name=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379562;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379562;SAVANT_GENE=KIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIN" target="_blank">KIN</a>;SAVANT_INFO=-/32.8kb/13/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.799-20A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIN+c.799-20A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7808086">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1648:127	0|0:53,0:53:99:0,159,1839:127	0|1:23,26:49:99:862,0,645:127
10	7844906	.	T	G	2370.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1244431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1244431" target="_blank">rs1244431</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.890+89T>G;snpeff.Amino_Acid_length=298;snpeff.Gene_Name=ATP5C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP5C1" target="_blank">ATP5C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356708;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356708;SAVANT_GENE=ATP5C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP5C1" target="_blank">ATP5C1</a>;SAVANT_INFO=+/19.7kb/10/1.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.890+89T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP5C1+c.890+89T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7844906">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2558:127	0|1:34,39:73:99:1204,0,1124:127	0|0:63,0:63:99:0,189,2186:127
10	7846152	.	T	C	24550.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=321;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs914609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=914609" target="_blank">rs914609</a>;ExAC.Info.AC=114810;ExAC.Info.AN=116296;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1217;ExAC.Info.AC_Hom=56381;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.890+1335T>C;snpeff.Amino_Acid_length=298;snpeff.Gene_Name=ATP5C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP5C1" target="_blank">ATP5C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356708;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356708;SAVANT_GENE=ATP5C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP5C1" target="_blank">ATP5C1</a>;SAVANT_INFO=+/19.7kb/10/1.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.890+1335T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATP5C1+c.890+1335T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7846152">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3203,300,0:127	1|1:0,103:103:99:3477,309,0:127	1|1:0,118:118:99:3896,354,0:127
10	7866268	.	C	G	54040.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=706;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7070208;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7070208" target="_blank">rs7070208</a>;ExAC.Info.AC=102297;ExAC.Info.AN=120276;ExAC.Info.AF=0.851;ExAC.Info.AC_Het=17855;ExAC.Info.AC_Hom=42184;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.167-13C>G;snpeff.Amino_Acid_length=929;snpeff.Gene_Name=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344293;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344293;SAVANT_GENE=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;SAVANT_INFO=+/198.1kb/7/4.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.167-13C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF3+c.167-13C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:7866268">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,209:209:99:7144,627,0:127	1|1:0,256:256:99:9153,769,0:127	1|1:0,241:241:99:8600,724,0:127
10	8006798	.	A	G	40398.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=567;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4747647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4747647" target="_blank">rs4747647</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=75575;ExAC.Info.AN=125200;ExAC.Info.AF=0.604;ExAC.Info.AC_Het=28284;ExAC.Info.AC_Hom=23602;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn442Ser/c.1325A>G;snpeff.Amino_Acid_length=929;snpeff.Gene_Name=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344293;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344293;SAVANT_GENE=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;SAVANT_INFO=+/198.1kb/7/4.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1325A>G_p.Asn442Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF3+c.1325A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:8006798">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,153:153:99:5528,459,0:127	1|0:94,140:234:99:4639,0,2564:127	1|1:0,180:180:99:6525,541,0:127
10	8007559	.	G	C	14176.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10795583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10795583" target="_blank">rs10795583</a>;ExAC.Info.AC=78646;ExAC.Info.AN=125260;ExAC.Info.AF=0.628;ExAC.Info.AC_Het=27829;ExAC.Info.AC_Hom=25169;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>C;snpeff.Amino_Acid_length=929;snpeff.Gene_Name=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344293;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2086G>C;snpeff.Amino_Acid_length=929;snpeff.Gene_Name=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344293;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ctg;snpeff.Amino_Acid_Change=p.Val696Leu/c.2086G>C;snpeff.Amino_Acid_length=929;snpeff.Gene_Name=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344293;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344293;SAVANT_GENE=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;SAVANT_INFO=+/198.1kb/7/4.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2086G>C_p.Val696Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF3+c.2086G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:8007559">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:2140,144,0:127	1|0:36,35:71:99:1398,0,2206:127	1|1:0,57:57:99:2539,172,0:127
10	8007560	.	T	C	14176.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1244229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1244229" target="_blank">rs1244229</a>;ExAC.Info.AC=90410;ExAC.Info.AN=125262;ExAC.Info.AF=0.722;ExAC.Info.AC_Het=24333;ExAC.Info.AC_Hom=32770;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2087T>C;snpeff.Amino_Acid_length=929;snpeff.Gene_Name=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344293;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2087T>C;snpeff.Amino_Acid_length=929;snpeff.Gene_Name=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344293;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val696Ala/c.2087T>C;snpeff.Amino_Acid_length=929;snpeff.Gene_Name=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344293;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344293;SAVANT_GENE=TAF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF3" target="_blank">TAF3</a>;SAVANT_INFO=+/198.1kb/7/4.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2087T>C_p.Val696Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF3+c.2087T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:8007560">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:2140,144,0:127	1|0:35,36:71:99:1398,0,2206:127	1|1:0,57:57:99:2539,172,0:127
10	8093034	.	G	T	3655.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypoparathyroidism|_sensorineural_deafness|_and_renal_dysplasia|_146255_(3);dbSNP139.ID=rs501764;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=501764" target="_blank">rs501764</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=108560;ExAC.Info.AN=125888;ExAC.Info.AF=0.862;ExAC.Info.AC_Het=13434;ExAC.Info.AC_Hom=44790;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1593C>A;snpeff.Gene_Name=GATA3-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3-AS1" target="_blank">GATA3-AS1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000355358;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3-AS1" target="_blank">GATA3-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GATA3-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:8093034">View</a>	GT:AD:DP:GQ:PL:TP	0|1:6,7:13:99:169,0,132:92	1|1:0,31:31:93:1019,93,0:92	0|1:12,15:27:99:303,0,312:92
10	8093185	.	T	C	872.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hypoparathyroidism|_sensorineural_deafness|_and_renal_dysplasia|_146255_(3);dbSNP139.ID=rs485411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=485411" target="_blank">rs485411</a>;ExAC.Info.AC=78058;ExAC.Info.AN=104458;ExAC.Info.AF=0.747;ExAC.Info.AC_Het=3988;ExAC.Info.AC_Hom=8599;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1442A>G;snpeff.Gene_Name=GATA3-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3-AS1" target="_blank">GATA3-AS1</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000355358;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3-AS1" target="_blank">GATA3-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GATA3-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:8093185">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,877:84	0|1:12,8:20:99:267,0,340:84	0|1:16,8:24:99:189,0,466:84
10	8100647	.	C	T	6862.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypoparathyroidism|_sensorineural_deafness|_and_renal_dysplasia|_146255_(3);dbSNP139.ID=rs2229359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229359" target="_blank">rs2229359</a>;ExAC.Info.AC=6149;ExAC.Info.AN=126678;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5704;ExAC.Info.AC_Hom=201;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala207Ala/c.621C>T;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379328;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379328;SAVANT_GENE=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;SAVANT_INFO=+/20.5kb/6/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.621C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GATA3+c.621C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:8100647">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,41:97:99:986,0,1693:127	0|0:113,0:113:99:0,339,4010:127	1|0:41,46:87:99:1446,0,1121:127
10	8111345	.	CT	C	70.02	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hypoparathyroidism|_sensorineural_deafness|_and_renal_dysplasia|_146255_(3);dbSNP139.ID=rs35348503;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35348503" target="_blank">rs35348503</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.925-90delT;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379328;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.925delT;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379328;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.925delT;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379328;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000379328;SAVANT_GENE=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;SAVANT_INFO=+/20.5kb/6/3.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.925-78delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GATA3+c.925-78delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:8111345">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,3:46:58:0,58,1019:8	0|1:47,8:55:31:31,0,1040:8	0|1:29,4:33:8:8,0,622:8
10	8111409	.	C	T	8011.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hypoparathyroidism|_sensorineural_deafness|_and_renal_dysplasia|_146255_(3);dbSNP139.ID=rs422628;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=422628" target="_blank">rs422628</a>;ExAC.Info.AC=101654;ExAC.Info.AN=126704;ExAC.Info.AF=0.802;ExAC.Info.AC_Het=19525;ExAC.Info.AC_Hom=41038;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.925-27C>T;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379328;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.925C>T;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379328;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.925C>T;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379328;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379328;SAVANT_GENE=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;SAVANT_INFO=+/20.5kb/6/3.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.925-27C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GATA3+c.925-27C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:8111409">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,411,5083:127	0|1:83,78:161:99:2262,0,2578:127	0|1:56,58:114:99:1764,0,1704:127
10	8115668	.	TA	T	3098.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=372;MQ=70.06;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hypoparathyroidism|_sensorineural_deafness|_and_renal_dysplasia|_146255_(3);dbSNP139.ID=rs373223232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=373223232" target="_blank">rs373223232</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1051-33delA;snpeff.Amino_Acid_length=444;snpeff.Gene_Name=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379328;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000379328;SAVANT_GENE=GATA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GATA3" target="_blank">GATA3</a>;SAVANT_INFO=+/20.5kb/6/3.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1051-16delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GATA3+c.1051-16delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:8115668">View</a>	GT:AD:DP:GQ:PL:TP	0/1:62,44:106:99:446,0,937:127	0/1:92,39:131:99:430,0,1404:127	0/1:88,47:135:99:528,0,1362:127
10	9449913	.	C	G	1088.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=74;MQ=40.10;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs113622754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113622754" target="_blank">rs113622754</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113622754" target="_blank">rs113622754</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:9449913">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,731:58	0|1:14,19:33:99:563,0,393:58	0|0:21,0:21:63:0,63,742:58
10	11299536	.	T	G	551.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=5159;ExAC.Info.AN=90420;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=1474;ExAC.Info.AC_Hom=14;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.404-165T>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450189;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450189;SAVANT_GENE=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;SAVANT_INFO=+/318.8kb/15/8.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.404-165T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF2+c.404-165T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11299536">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,16:43:33:33,0,628:33	0/1:25,19:44:99:161,0,579:33	0/1:11,8:19:86:86,0,271:33
10	11299607	.	A	G	3851.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56183744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56183744" target="_blank">rs56183744</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.404-94A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450189;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450189;SAVANT_GENE=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;SAVANT_INFO=+/318.8kb/15/8.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.404-94A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF2+c.404-94A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11299607">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,33:55:99:934,0,615:127	0|0:62,0:62:99:0,186,2211:127	1|0:26,21:47:99:635,0,873:127
10	11299735	.	A	T	12988.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2277212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2277212" target="_blank">rs2277212</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=94899;ExAC.Info.AN=125478;ExAC.Info.AF=0.756;ExAC.Info.AC_Het=22705;ExAC.Info.AC_Hom=35966;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtT;snpeff.Amino_Acid_Change=p.Val146Val/c.438A>T;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450189;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450189;SAVANT_GENE=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;SAVANT_INFO=+/318.8kb/15/8.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.438A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF2+c.438A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11299735">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,43:90:99:1176,0,1211:127	1|1:1,106:107:99:3340,286,0:127	0|1:53,59:112:99:1562,0,1401:127
10	11316909	.	G	C	14511.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2244576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2244576" target="_blank">rs2244576</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.778-111G>C;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450189;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450189;SAVANT_GENE=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;SAVANT_INFO=+/318.8kb/15/8.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.778-111G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF2+c.778-111G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11316909">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1980,162,0:127	1|1:0,62:62:99:2218,186,0:127	1|1:0,56:56:99:2058,168,0:127
10	11316987	.	G	A	18073.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2244573;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2244573" target="_blank">rs2244573</a>;ExAC.Info.AC=66824;ExAC.Info.AN=125728;ExAC.Info.AF=0.531;ExAC.Info.AC_Het=28277;ExAC.Info.AC_Hom=19193;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.778-33G>A;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450189;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450189;SAVANT_GENE=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;SAVANT_INFO=+/318.8kb/15/8.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.778-33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF2+c.778-33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11316987">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2553,222,0:127	1|1:0,101:101:99:3711,304,0:127	1|0:36,37:73:99:1072,0,1048:127
10	11356160	.	C	T	6778.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2246449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2246449" target="_blank">rs2246449</a>;ExAC.Info.AC=43570;ExAC.Info.AN=125268;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=26735;ExAC.Info.AC_Hom=8405;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu345Leu/c.1035C>T;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450189;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450189;SAVANT_GENE=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;SAVANT_INFO=+/318.8kb/15/8.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1035C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF2+c.1035C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11356160">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,23:43:99:599,0,626:127	1|1:0,57:57:99:1984,171,0:127	0|0:59,0:59:99:0,177,2261:127
10	11361182	.	A	T	7901.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11596315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11596315" target="_blank">rs11596315</a>;ExAC.Info.AC=1136;ExAC.Info.AN=24656;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=729;ExAC.Info.AC_Hom=50;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.92-9T>A;snpeff.Gene_Name=CELF2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2-AS1" target="_blank">CELF2-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000379256;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1097-1970A>T;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2-AS1" target="_blank">CELF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450189;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379256:ENST00000450189;SAVANT_GENE=C10orf31:CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf31:CELF2" target="_blank">C10orf31:CELF2</a>;SAVANT_INFO=-/3.1kb/2/2.5kb:+/318.8kb/15/8.0kb;SAVANT_LOC=In1/2:In10/11;SAVANT_HGVS=c.67-9T>A:c.1097-1970A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf31:CELF2+c.67-9T>A:c.1097-1970A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11361182">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,44:85:99:1766,0,1717:127	0|0:124,0:124:99:0,379,6132:127	1|0:47,40:87:99:1517,0,2002:127
10	11361186	.	A	G	7885.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11596316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11596316" target="_blank">rs11596316</a>;ExAC.Info.AC=1134;ExAC.Info.AN=24630;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=706;ExAC.Info.AC_Hom=49;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.92-13T>C;snpeff.Gene_Name=CELF2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2-AS1" target="_blank">CELF2-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000379256;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1097-1966A>G;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2-AS1" target="_blank">CELF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450189;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379256:ENST00000450189;SAVANT_GENE=C10orf31:CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf31:CELF2" target="_blank">C10orf31:CELF2</a>;SAVANT_INFO=-/3.1kb/2/2.5kb:+/318.8kb/15/8.0kb;SAVANT_LOC=In1/2:In10/11;SAVANT_HGVS=c.67-13T>C:c.1097-1966A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf31:CELF2+c.67-13T>C:c.1097-1966A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11361186">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,45:84:99:1772,0,1673:127	0|0:119,0:119:99:0,379,6143:127	1|0:47,38:85:99:1523,0,1937:127
10	11362789	.	GTT	G	5675.32	PASS	InheritancePattern=Normal;AC=2;AF=0.667;AN=3;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1097-362_1097-361delTT;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450189;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000450189;SAVANT_GENE=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;SAVANT_INFO=+/318.8kb/15/8.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1097-347_1097-346delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF2+c.1097-347_1097-346delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11362789">View</a>	GT:AD:DP:GQ:PL	./1:10,14:71:80:1136,782,1178	./0:33,10:75:99:629,475,1616	./1:8,12:54:78:829,535,935
10	11362789	.	GTT	GT	5675.32	PASS	InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1097-361delT;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450189;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000450189;SAVANT_GENE=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;SAVANT_INFO=+/318.8kb/15/8.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1097-346delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF2+c.1097-346delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11362789">View</a>	GT:AD:DP:GQ:PL	./1:10,47:71:80:1136,81,80	0/1:33,32:75:99:629,0,473	./1:8,34:54:78:829,78,95
10	11367780	.	CT	C	15315.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=570;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3832668;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3832668" target="_blank">rs3832668</a>;ExAC.Info.AC=49597;ExAC.Info.AN=125132;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=29300;ExAC.Info.AC_Hom=9956;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1295-18delT;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450189;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000450189;SAVANT_GENE=CELF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELF2" target="_blank">CELF2</a>;SAVANT_INFO=+/318.8kb/15/8.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1295-10delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CELF2+c.1295-10delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11367780">View</a>	GT:AD:DP:GQ:PL:TP	0/1:87,101:188:99:2422,0,1953:127	0/1:105,111:216:99:2643,0,2420:127	0/1:86,80:166:99:1881,0,2007:127
10	11504687	.	G	A	3940.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41291253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41291253" target="_blank">rs41291253</a>;ExAC.Info.AC=445;ExAC.Info.AN=125044;ExAC.Info.AF=3.559e-03;ExAC.Info.AC_Het=443;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr770Met/c.2309C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=USP6NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP6NL" target="_blank">USP6NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379237;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277575;SAVANT_GENE=USP6NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP6NL" target="_blank">USP6NL</a>;SAVANT_INFO=-/71.8kb/14/4.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2291C>T_p.Thr764Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP6NL+c.2291C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11504687">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,3310:127	0|0:112,2:114:99:0,293,3706:127	0|1:69,68:137:99:1989,0,1963:127
10	11504752	.	T	C	4062.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12570211;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12570211" target="_blank">rs12570211</a>;ExAC.Info.AC=9879;ExAC.Info.AN=125012;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=8585;ExAC.Info.AC_Hom=645;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro748Pro/c.2244A>G;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=USP6NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP6NL" target="_blank">USP6NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379237;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277575;SAVANT_GENE=USP6NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP6NL" target="_blank">USP6NL</a>;SAVANT_INFO=-/71.8kb/14/4.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2226A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP6NL+c.2226A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11504752">View</a>	GT:AD:DP:GQ:PL:TP	0|0:130,0:130:99:0,390,4104:127	0|0:145,1:146:99:0,403,4935:127	0|1:76,71:147:99:2050,0,2168:127
10	11505175	.	A	G	8765.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3740204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740204" target="_blank">rs3740204</a>;ExAC.Info.AC=45860;ExAC.Info.AN=124936;ExAC.Info.AF=0.367;ExAC.Info.AC_Het=26629;ExAC.Info.AC_Hom=9475;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro607Pro/c.1821T>C;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=USP6NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP6NL" target="_blank">USP6NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379237;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277575;SAVANT_GENE=USP6NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP6NL" target="_blank">USP6NL</a>;SAVANT_INFO=-/71.8kb/14/4.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1803T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP6NL+c.1803T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11505175">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,52:103:99:1544,0,1423:127	0/1:70,36:106:99:1055,0,2162:127	0/1:42,38:80:99:1126,0,1255:127
10	11505743	.	G	A	5469.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs113611342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113611342" target="_blank">rs113611342</a>;ExAC.Info.AC=1962;ExAC.Info.AN=124302;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=1708;ExAC.Info.AC_Hom=22;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro418Leu/c.1253C>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=USP6NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP6NL" target="_blank">USP6NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379237;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277575;SAVANT_GENE=USP6NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP6NL" target="_blank">USP6NL</a>;SAVANT_INFO=-/71.8kb/14/4.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1235C>T_p.Pro412Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP6NL+c.1235C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11505743">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,354,3897:127	0|1:69,84:153:99:2753,0,1987:127	0|0:104,0:104:99:0,313,3614:127
10	11532758	.	C	A	6363.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs882206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=882206" target="_blank">rs882206</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.612+73G>T;snpeff.Amino_Acid_length=851;snpeff.Gene_Name=USP6NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP6NL" target="_blank">USP6NL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379237;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277575;SAVANT_GENE=USP6NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP6NL" target="_blank">USP6NL</a>;SAVANT_INFO=-/71.8kb/14/4.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.594+73G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP6NL+c.594+73G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11532758">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,32:62:99:859,0,914:127	0/1:42,37:79:99:977,0,1358:127	0/1:31,31:62:99:878,0,908:127
10	11653512	.	CCGGCG	C	2995.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=93;MQ=70.34;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.210_214delCGGCG;snpeff.Gene_Name=RP11-138I18.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-138I181" target="_blank">RP11-138I181</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000604634;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=USP6NL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-138I181" target="_blank">RP11-138I181</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-138I181" target="_blank">RP11-138I181</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-138I181+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11653512">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,17:31:99:616,0,517:108	0|0:36,0:36:99:0,108,1561:108	1|0:16,10:26:99:364,0,640:108
10	11653766	.	T	C	610.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=39;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.463T>C;snpeff.Gene_Name=RP11-138I18.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-138I181" target="_blank">RP11-138I181</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000604634;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-138I181" target="_blank">RP11-138I181</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-138I181+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11653766">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:27:0,27,321:26	0|0:15,0:15:45:0,45,565:26	0|1:6,9:15:99:324,0,188:26
10	11784633	.	C	T	691.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=38;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11558855;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11558855" target="_blank">rs11558855</a>;cosmic68.Histology_subtype=serous_carcinoma;ExAC.Info.AC=3209;ExAC.Info.AN=49946;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=141;ExAC.Info.AC_Hom=12;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg20Cys/c.58C>T;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.58C>T_p.Arg20Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.58C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11784633">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,6:15:99:145,0,256:39	0|0:13,0:13:39:0,39,458:39	1|0:7,3:10:57:57,0,225:39
10	11789382	.	G	A	16283.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4750090;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4750090" target="_blank">rs4750090</a>;ExAC.Info.AC=123519;ExAC.Info.AN=126700;ExAC.Info.AF=0.975;ExAC.Info.AC_Het=2395;ExAC.Info.AC_Hom=60549;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcg/Acg;snpeff.Amino_Acid_Change=p.Ala69Thr/c.205G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.205G>A_p.Ala69Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.205G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11789382">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2126,174,0:127	1|1:0,85:85:99:2830,255,0:127	1|1:0,50:50:99:1654,150,0:127
10	11789405	.	G	A	19614.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4750091;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4750091" target="_blank">rs4750091</a>;ExAC.Info.AC=124038;ExAC.Info.AN=126702;ExAC.Info.AF=0.979;ExAC.Info.AC_Het=2046;ExAC.Info.AC_Hom=60986;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.228G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys76Lys/c.228G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.228G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.228G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11789405">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2377,207,0:127	1|1:0,97:97:99:3218,291,0:127	1|1:0,61:61:99:2079,183,0:127
10	11789511	.	C	G	16430.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4750092;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4750092" target="_blank">rs4750092</a>;ExAC.Info.AC=123583;ExAC.Info.AN=126702;ExAC.Info.AF=0.975;ExAC.Info.AC_Het=2323;ExAC.Info.AC_Hom=60564;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.292+42C>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293C>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.293C>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.292+42C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.292+42C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11789511">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2106,168,0:127	1|1:0,65:65:99:2290,195,0:127	1|1:0,65:65:99:2177,195,0:127
10	11797436	.	T	C	55044.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=623;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7899215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7899215" target="_blank">rs7899215</a>;ExAC.Info.AC=124373;ExAC.Info.AN=126700;ExAC.Info.AF=0.982;ExAC.Info.AC_Het=1860;ExAC.Info.AC_Hom=61204;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val140Val/c.420T>C;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.420T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.420T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11797436">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,180:180:99:6208,543,0:127	1|1:0,245:245:99:9051,751,0:127	1|1:0,198:198:99:6651,595,0:127
10	11797467	.	G	A	48772.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=537;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7910140;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7910140" target="_blank">rs7910140</a>;ExAC.Info.AC=123643;ExAC.Info.AN=126692;ExAC.Info.AF=0.976;ExAC.Info.AC_Het=2275;ExAC.Info.AC_Hom=60523;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcg/Acg;snpeff.Amino_Acid_Change=p.Ala151Thr/c.451G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.451G>A_p.Ala151Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.451G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11797467">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,162:162:99:5923,489,0:127	1|1:0,204:204:99:7675,619,0:127	1|1:0,171:171:99:5816,517,0:127
10	11797500	.	G	A	12010.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=473;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35986488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35986488" target="_blank">rs35986488</a>;ExAC.Info.AC=7931;ExAC.Info.AN=126698;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=7305;ExAC.Info.AC_Hom=303;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.484G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp162Asn/c.484G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.484G>A_p.Asp162Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.484G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11797500">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,66:145:99:1817,0,2210:127	1|0:94,82:176:99:2360,0,2898:127	0|0:151,1:152:99:0,418,5370:127
10	11797619	.	C	G	14394.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs902892;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=902892" target="_blank">rs902892</a>;ExAC.Info.AC=123888;ExAC.Info.AN=126560;ExAC.Info.AF=0.979;ExAC.Info.AC_Het=1735;ExAC.Info.AC_Hom=54529;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.591+12C>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592C>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592C>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.591+12C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.591+12C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11797619">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1650,135,0:127	1|1:0,60:60:99:2162,180,0:127	1|1:0,60:60:99:2249,180,0:127
10	11805152	.	C	T	2578.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61844892;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61844892" target="_blank">rs61844892</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.592-71C>T;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592C>T;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592C>T;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.592-71C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.592-71C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11805152">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,9:27:99:242,0,531:127	0|0:57,0:57:99:0,170,2054:127	1|0:19,23:42:99:702,0,475:127
10	11805204	.	A	C	3639.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72781916;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72781916" target="_blank">rs72781916</a>;ExAC.Info.AC=23817;ExAC.Info.AN=126454;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=16926;ExAC.Info.AC_Hom=2175;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.592-19A>C;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592A>C;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.592-19A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.592-19A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11805204">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,18:50:99:446,0,953:127	0|0:82,0:82:99:0,246,2863:127	1|0:22,26:48:99:740,0,567:127
10	11805249	.	T	C	4688.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61739577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61739577" target="_blank">rs61739577</a>;ExAC.Info.AC=24778;ExAC.Info.AN=126684;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=19112;ExAC.Info.AC_Hom=2715;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly206Gly/c.618T>C;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.618T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.618T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11805249">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,23:62:99:652,0,998:127	0|0:102,0:102:99:0,307,3479:127	1|0:33,29:62:99:854,0,936:127
10	11805339	.	C	T	2913.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17850531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17850531" target="_blank">rs17850531</a>;ExAC.Info.AC=26303;ExAC.Info.AN=126696;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=20316;ExAC.Info.AC_Hom=2962;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708C>T;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile236Ile/c.708C>T;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.708C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.708C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11805339">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2452:127	0|1:46,50:96:99:1475,0,1273:127	0|0:76,0:76:99:0,228,2581:127
10	11805354	.	A	G	21752.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs12258196;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12258196" target="_blank">rs12258196</a>;ExAC.Info.AC=70301;ExAC.Info.AN=126698;ExAC.Info.AF=0.555;ExAC.Info.AC_Het=30856;ExAC.Info.AC_Hom=19463;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.723A>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala241Ala/c.723A>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.723A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.723A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11805354">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:3171,214,0:127	1|1:0,83:83:99:3816,262,0:127	1|0:39,30:69:99:1139,0,1774:127
10	11805357	.	G	A	21665.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10906011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10906011" target="_blank">rs10906011</a>;ExAC.Info.AC=70291;ExAC.Info.AN=126696;ExAC.Info.AF=0.555;ExAC.Info.AC_Het=30853;ExAC.Info.AC_Hom=19454;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser242Ser/c.726G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379215;SAVANT_GENE=ECHDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHDC3" target="_blank">ECHDC3</a>;SAVANT_INFO=+/21.7kb/5/1.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.726G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHDC3+c.726G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11805357">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:3233,217,0:127	1|1:0,80:80:99:3735,256,0:127	1|0:39,30:69:99:1130,0,1894:127
10	11894221	.	GAC	G	7106.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs142313031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142313031" target="_blank">rs142313031</a>;ExAC.Info.AC=14491;ExAC.Info.AN=126688;ExAC.Info.AF=0.114;ExAC.Info.AC_Het=12387;ExAC.Info.AC_Hom=966;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.138+8_138+9delAC;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=PROSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROSER2" target="_blank">PROSER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277570;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.998-468_998-467delGT;snpeff.Gene_Name=PROSER2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROSER2" target="_blank">PROSER2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445498;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.139_140delAC;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=PROSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROSER2" target="_blank">PROSER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277570;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000277570;SAVANT_GENE=C10orf47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf47" target="_blank">C10orf47</a>;SAVANT_INFO=+/48.9kb/4/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.138+9_138+10delCA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf47+c.138+9_138+10delCA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11894221">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,26:52:99:1014,0,1023:127	0/1:33,29:62:99:1115,0,1309:127	0/1:26,24:50:99:930,0,1022:127
10	11911764	.	G	A	2799.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs117789748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=117789748" target="_blank">rs117789748</a>;ExAC.Info.AC=10126;ExAC.Info.AN=120416;ExAC.Info.AF=0.084;ExAC.Info.AC_Het=4914;ExAC.Info.AC_Hom=391;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.627-264C>T;snpeff.Gene_Name=PROSER2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROSER2-AS1" target="_blank">PROSER2-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445498;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.667G>A;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=PROSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROSER2-AS1" target="_blank">PROSER2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277570;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly223Arg/c.667G>A;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=PROSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROSER2-AS1" target="_blank">PROSER2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277570;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277570;SAVANT_GENE=C10orf47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf47" target="_blank">C10orf47</a>;SAVANT_INFO=+/48.9kb/4/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.667G>A_p.Gly223Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf47+c.667G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11911764">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,16:30:99:494,0,459:127	0/1:17,15:32:99:447,0,493:127	0/1:14,15:29:99:395,0,381:127
10	11912228	.	G	A	2276.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs74657303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74657303" target="_blank">rs74657303</a>;ExAC.Info.AC=2386;ExAC.Info.AN=39110;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=1042;ExAC.Info.AC_Hom=84;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.627-728C>T;snpeff.Gene_Name=PROSER2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROSER2-AS1" target="_blank">PROSER2-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445498;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr377Thr/c.1131G>A;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=PROSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROSER2-AS1" target="_blank">PROSER2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277570;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277570;SAVANT_GENE=C10orf47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf47" target="_blank">C10orf47</a>;SAVANT_INFO=+/48.9kb/4/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1131G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf47+c.1131G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11912228">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,11:21:99:289,0,288:112	0/1:5,14:19:99:396,0,113:112	0/1:8,9:17:99:278,0,264:112
10	11912431	.	C	T	3078.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12253600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12253600" target="_blank">rs12253600</a>;ExAC.Info.AC=8113;ExAC.Info.AN=26250;ExAC.Info.AF=0.309;ExAC.Info.AC_Het=1697;ExAC.Info.AC_Hom=716;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.627-931G>A;snpeff.Gene_Name=PROSER2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROSER2-AS1" target="_blank">PROSER2-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445498;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=26;snpeff.Amino_Acid_Change=c.*26C>T;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=PROSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROSER2-AS1" target="_blank">PROSER2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277570;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277570;SAVANT_GENE=C10orf47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf47" target="_blank">C10orf47</a>;SAVANT_INFO=+/48.9kb/4/3.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*26C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf47+c.*26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:11912431">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,24:43:99:638,0,499:127	0/1:20,22:42:99:538,0,571:127	0/1:21,10:31:99:248,0,601:127
10	12046546	.	T	C	7380.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7079388;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7079388" target="_blank">rs7079388</a>;ExAC.Info.AC=13109;ExAC.Info.AN=126686;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=11380;ExAC.Info.AC_Hom=820;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn496Ser/c.1487A>G;snpeff.Amino_Acid_length=1272;snpeff.Gene_Name=UPF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UPF2" target="_blank">UPF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397053;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356352;SAVANT_GENE=UPF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UPF2" target="_blank">UPF2</a>;SAVANT_INFO=-/115.9kb/21/5.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1487A>G_p.Asn496Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UPF2+c.1487A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12046546">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,36:56:99:1170,0,515:127	1|1:0,70:70:99:2532,210,0:127	0|0:55,0:55:99:0,165,1920:127
10	12068542	.	C	T	15503.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=528;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs12415637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12415637" target="_blank">rs12415637</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1145+2202G>A;snpeff.Amino_Acid_length=1272;snpeff.Gene_Name=UPF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UPF2" target="_blank">UPF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397053;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356352;SAVANT_GENE=UPF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UPF2" target="_blank">UPF2</a>;SAVANT_INFO=-/115.9kb/21/5.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.1145+2202G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UPF2+c.1145+2202G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12068542">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,84:165:99:2231,0,2137:127	0|0:227,1:228:99:0,648,7782:127	1|1:0,135:135:99:4655,406,0:127
10	12111090	.	T	C	35543.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1279138;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1279138" target="_blank">rs1279138</a>;ExAC.Info.AC=124751;ExAC.Info.AN=125986;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=1005;ExAC.Info.AC_Hom=59464;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe20Leu/c.58T>C;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.58T>C_p.Phe20Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.58T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12111090">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4434,396,0:127	1|1:0,125:125:99:4547,376,0:127	1|1:0,123:123:99:4246,369,0:127
10	12131081	.	T	G	17005.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740015;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740015" target="_blank">rs3740015</a>;ExAC.Info.AC=70578;ExAC.Info.AN=126704;ExAC.Info.AF=0.557;ExAC.Info.AC_Het=29160;ExAC.Info.AC_Hom=20709;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Gac;snpeff.Amino_Acid_Change=p.Tyr272Asp/c.814T>G;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.814T>G_p.Tyr272Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.814T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12131081">View</a>	GT:AD:DP:GQ:PL:TP	0/1:79,67:146:99:1870,0,2027:127	0/1:86,91:177:99:2914,0,2470:127	0/1:71,75:146:99:2188,0,1897:127
10	12131218	.	C	T	12492.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=563;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbSNP139.ID=rs3740016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740016" target="_blank">rs3740016</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=11326;ExAC.Info.AN=126704;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=10122;ExAC.Info.AC_Hom=599;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn317Asn/c.951C>T;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.951C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.951C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12131218">View</a>	GT:AD:DP:GQ:PL:TP	0|1:86,93:179:99:2573,0,2433:127	1|0:113,97:210:99:2868,0,3418:127	0|0:174,0:174:99:0,523,6124:127
10	12140030	.	C	G	42074.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=521;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbSNP139.ID=rs10906076;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10906076" target="_blank">rs10906076</a>;ExAC.Info.AC=97652;ExAC.Info.AN=126264;ExAC.Info.AF=0.773;ExAC.Info.AC_Het=20185;ExAC.Info.AC_Hom=35740;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1671+35C>G;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1671+35C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.1671+35C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12140030">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,172:172:99:6104,517,0:127	1|1:0,195:195:99:7074,586,0:127	1|1:0,154:154:99:5416,461,0:127
10	12143105	.	C	G	30199.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2062988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2062988" target="_blank">rs2062988</a>;ExAC.Info.AC=98544;ExAC.Info.AN=126704;ExAC.Info.AF=0.778;ExAC.Info.AC_Het=20996;ExAC.Info.AC_Hom=38772;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atC/atG;snpeff.Amino_Acid_Change=p.Ile607Met/c.1821C>G;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1821C>G_p.Ile607Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.1821C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12143105">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4246,375,0:127	1|1:0,132:132:99:4570,397,0:127	1|1:0,134:134:99:4688,403,0:127
10	12148259	.	A	C	32971.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbSNP139.ID=rs1701472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1701472" target="_blank">rs1701472</a>;ExAC.Info.AC=124929;ExAC.Info.AN=126702;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1507;ExAC.Info.AC_Hom=61703;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro637Pro/c.1911A>C;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1911A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.1911A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12148259">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4353,388,0:127	1|1:0,142:142:99:5093,426,0:127	1|1:0,138:138:99:4909,415,0:127
10	12148286	.	T	C	42700.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=519;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbSNP139.ID=rs1615510;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1615510" target="_blank">rs1615510</a>;ExAC.Info.AC=125304;ExAC.Info.AN=126704;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1226;ExAC.Info.AC_Hom=62038;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe646Phe/c.1938T>C;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1938T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.1938T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12148286">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,160:160:99:5474,480,0:127	1|1:0,179:179:99:6338,538,0:127	1|1:0,180:180:99:6399,541,0:127
10	12149939	.	C	T	18482.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=400;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbSNP139.ID=rs1722462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1722462" target="_blank">rs1722462</a>;ExAC.Info.AC=114453;ExAC.Info.AN=126702;ExAC.Info.AF=0.903;ExAC.Info.AC_Het=10838;ExAC.Info.AC_Hom=51792;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile693Ile/c.2079C>T;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2079C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.2079C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12149939">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,73:135:99:2061,0,1706:127	0|1:69,69:138:99:1989,0,2044:127	1|1:0,127:127:99:4429,381,0:127
10	12154833	.	C	T	9422.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=969;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbSNP139.ID=rs1701470;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1701470" target="_blank">rs1701470</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2155-66C>T;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2155-66C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.2155-66C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12154833">View</a>	GT:AD:DP:GQ:PL:TP	0|0:269,0:269:99:0,808,8944:127	0|0:356,0:356:99:0,1069,12155:127	0|1:164,180:344:99:4730,0,4303:127
10	12159647	.	A	G	32579.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbSNP139.ID=rs2399771;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2399771" target="_blank">rs2399771</a>;ExAC.Info.AC=124993;ExAC.Info.AN=126704;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1489;ExAC.Info.AC_Hom=61752;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2320-25A>G;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2320-25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.2320-25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12159647">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3927,330,0:127	1|1:0,152:152:99:5267,456,0:127	1|1:0,129:129:99:4509,388,0:127
10	12159668	.	G	A	9669.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=461;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbSNP139.ID=rs12416681;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12416681" target="_blank">rs12416681</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=10961;ExAC.Info.AN=126704;ExAC.Info.AF=0.087;ExAC.Info.AC_Het=9831;ExAC.Info.AC_Hom=565;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2320-4G>A;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2320G>A;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2320-4G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.2320-4G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12159668">View</a>	GT:AD:DP:GQ:PL:TP	0|1:84,51:135:99:1441,0,2297:127	1|0:77,87:164:99:2383,0,2164:127	0|0:162,0:162:99:0,486,5386:127
10	12162716	.	C	T	4932.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=2-aminoadipic_2-oxoadipic_aciduria|_204750_(3)|_Charcot-Marie-Tooth_disease|_axonal|_type_2Q|_615025_(3);dbSNP139.ID=rs72779687;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72779687" target="_blank">rs72779687</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2659-70C>T;snpeff.Amino_Acid_length=919;snpeff.Gene_Name=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263035;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263035;SAVANT_GENE=DHTKD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHTKD1" target="_blank">DHTKD1</a>;SAVANT_INFO=+/54.3kb/17/5.2kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2659-70C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHTKD1+c.2659-70C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12162716">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,34:74:99:978,0,1204:127	0|0:79,2:81:99:0,164,2951:127	1|0:37,42:79:99:1298,0,1153:127
10	12171740	.	G	A	4074.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11257552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11257552" target="_blank">rs11257552</a>;ExAC.Info.AC=33574;ExAC.Info.AN=103752;ExAC.Info.AF=0.324;ExAC.Info.AC_Het=5769;ExAC.Info.AC_Hom=2516;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=47;snpeff.Amino_Acid_Change=c.-47G>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298428;SAVANT_GENE=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;SAVANT_INFO=+/35.1kb/12/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-47G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC61A2+c.-47G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12171740">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,11:29:99:266,0,566:127	0/1:23,24:47:99:576,0,537:127	0/1:23,18:41:99:496,0,622:127
10	12191933	.	C	T	7222.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=633;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10466280;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10466280" target="_blank">rs10466280</a>;ExAC.Info.AC=52813;ExAC.Info.AN=126700;ExAC.Info.AF=0.417;ExAC.Info.AC_Het=30374;ExAC.Info.AC_Hom=11214;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala145Ala/c.435C>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298428;SAVANT_GENE=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;SAVANT_INFO=+/35.1kb/12/1.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.435C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC61A2+c.435C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12191933">View</a>	GT:AD:DP:GQ:PL:TP	0|0:187,0:187:99:0,562,6426:127	0|0:218,0:218:99:0,655,7454:127	0|1:104,124:228:99:3630,0,2928:127
10	12195881	.	G	A	1124.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2895501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2895501" target="_blank">rs2895501</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.463-1896G>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463G>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463G>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298428;SAVANT_GENE=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;SAVANT_INFO=+/35.1kb/12/1.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.463-1896G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC61A2+c.463-1896G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12195881">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1683:127	0|0:49,0:49:99:0,147,1799:127	0|1:27,20:47:99:581,0,789:127
10	12197259	.	A	G	1247.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10906089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10906089" target="_blank">rs10906089</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.463-518A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298428;SAVANT_GENE=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;SAVANT_INFO=+/35.1kb/12/1.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.463-518A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC61A2+c.463-518A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12197259">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,6:15:99:185,0,257:127	0/1:7,11:18:99:342,0,195:127	0/1:13,6:19:99:169,0,401:127
10	12202866	.	A	T	884.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10906092;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10906092" target="_blank">rs10906092</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.976-63A>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.976A>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.976A>T;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298428;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298428;SAVANT_GENE=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;SAVANT_INFO=+/35.1kb/12/1.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.976-63A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC61A2+c.976-63A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12202866">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,994:83	0|0:42,0:42:99:0,126,1512:83	0|1:18,17:35:99:461,0,530:83
10	12209752	.	T	C	17975.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=575;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6686" target="_blank">rs6686</a>;ExAC.Info.AC=60392;ExAC.Info.AN=126704;ExAC.Info.AF=0.477;ExAC.Info.AC_Het=31029;ExAC.Info.AC_Hom=14673;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SEC61A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala216Ala/c.648A>G;snpeff.Amino_Acid_length=232;snpeff.Gene_Name=NUDT5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC61A2" target="_blank">SEC61A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378937;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000491614;SAVANT_GENE=NUDT5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT5" target="_blank">NUDT5</a>;SAVANT_INFO=-/30.8kb/10/3.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.609A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUDT5+c.609A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12209752">View</a>	GT:AD:DP:GQ:PL:TP	0/1:103,79:182:99:2126,0,2923:127	0/1:99,107:206:99:3123,0,2890:127	0/1:105,82:187:99:2226,0,3239:127
10	12212186	.	T	A	10339.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11257577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11257577" target="_blank">rs11257577</a>;ExAC.Info.AC=61484;ExAC.Info.AN=118880;ExAC.Info.AF=0.517;ExAC.Info.AC_Het=28921;ExAC.Info.AC_Hom=16154;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.589+530A>T;snpeff.Amino_Acid_length=232;snpeff.Gene_Name=NUDT5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT5" target="_blank">NUDT5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378937;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000491614;SAVANT_GENE=NUDT5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT5" target="_blank">NUDT5</a>;SAVANT_INFO=-/30.8kb/10/3.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.550+530A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUDT5+c.550+530A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12212186">View</a>	GT:AD:DP:GQ:PL:TP	0/1:66,59:125:99:1528,0,1702:127	0/1:74,64:138:99:1707,0,2126:127	0/1:52,48:100:99:1379,0,1419:127
10	12228298	.	C	T	6580.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2272207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272207" target="_blank">rs2272207</a>;ExAC.Info.AC=7108;ExAC.Info.AN=126704;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=6633;ExAC.Info.AC_Hom=237;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.-8G>A;snpeff.Amino_Acid_length=232;snpeff.Gene_Name=NUDT5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT5" target="_blank">NUDT5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378937;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000491614;SAVANT_GENE=NUDT5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT5" target="_blank">NUDT5</a>;SAVANT_INFO=-/30.8kb/10/3.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-8G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUDT5+c.-8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12228298">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,44:101:99:1209,0,1571:127	1|0:58,53:111:99:1490,0,1530:127	0|0:101,0:101:99:0,303,3381:127
10	12238325	.	TGGGA	T	2687.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs141093124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141093124" target="_blank">rs141093124</a>;ExAC.Info.AC=16976;ExAC.Info.AN=126704;ExAC.Info.AF=0.134;ExAC.Info.AC_Het=14228;ExAC.Info.AC_Hom=1358;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.74+8_74+11delGGGA;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281141;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000281141;SAVANT_GENE=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;SAVANT_INFO=+/54.6kb/13/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.74+11_74+14delAGGG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC123+c.74+11_74+14delAGGG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12238325">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,220,3669:127	0|1:43,37:80:99:1367,0,1893:127	0|0:81,0:81:99:0,243,4146:127
10	12240640	.	G	C	2241.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11257591;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11257591" target="_blank">rs11257591</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.75-64G>C;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281141;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281141;SAVANT_GENE=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;SAVANT_INFO=+/54.6kb/13/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.75-64G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC123+c.75-64G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12240640">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,17:37:99:495,0,578:125	1|0:17,17:34:99:557,0,565:125	0|0:42,0:42:99:0,126,1466:125
10	12240691	.	GT	G	2852.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs150891932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150891932" target="_blank">rs150891932</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.75-12delT;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281141;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000281141;SAVANT_GENE=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;SAVANT_INFO=+/54.6kb/13/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.75-3delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC123+c.75-3delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12240691">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,15:37:99:315,0,517:46	1|0:21,36:57:99:806,0,425:46	0|0:41,3:44:46:0,46,1052:46
10	12288302	.	A	G	16018.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs36042706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36042706" target="_blank">rs36042706</a>;ExAC.Info.AC=65723;ExAC.Info.AN=126692;ExAC.Info.AF=0.519;ExAC.Info.AC_Het=30536;ExAC.Info.AC_Hom=17535;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1239T>C;snpeff.Gene_Name=RP11-186N15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-186N153" target="_blank">RP11-186N153</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421657;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.846+26A>G;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-186N153" target="_blank">RP11-186N153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281141;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281141;SAVANT_GENE=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;SAVANT_INFO=+/54.6kb/13/1.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.846+26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC123+c.846+26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12288302">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,72:127:99:2247,0,1516:127	0|0:158,0:158:99:0,475,5760:127	1|1:0,144:144:99:5069,433,0:127
10	12292286	.	C	G	13945.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=402;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs12779647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12779647" target="_blank">rs12779647</a>;ExAC.Info.AC=68373;ExAC.Info.AN=126682;ExAC.Info.AF=0.540;ExAC.Info.AC_Het=30949;ExAC.Info.AC_Hom=18502;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.985-24C>G;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281141;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281141;SAVANT_GENE=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;SAVANT_INFO=+/54.6kb/13/1.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.985-24C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC123+c.985-24C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12292286">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,79:155:99:2106,0,2028:127	0|0:138,0:138:99:0,415,4916:127	1|1:0,109:109:99:3920,327,0:127
10	12292344	.	A	G	3648.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=406;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10951" target="_blank">rs10951</a>;ExAC.Info.AC=78669;ExAC.Info.AN=126700;ExAC.Info.AF=0.621;ExAC.Info.AC_Het=29434;ExAC.Info.AC_Hom=24557;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.*8A>G;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281141;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281141;SAVANT_GENE=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;SAVANT_INFO=+/54.6kb/13/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*8A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC123+c.*8A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12292344">View</a>	GT:AD:DP:GQ:PL:TP	0|0:150,0:150:99:0,454,5634:127	0|0:135,0:135:99:0,406,4443:127	0|1:58,63:121:99:1843,0,2172:127
10	12292348	.	G	T	8011.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs12590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12590" target="_blank">rs12590</a>;ExAC.Info.AC=23302;ExAC.Info.AN=126702;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=18617;ExAC.Info.AC_Hom=2324;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.*12G>T;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281141;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281141;SAVANT_GENE=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;SAVANT_INFO=+/54.6kb/13/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*12G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC123+c.*12G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12292348">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,68:148:99:1673,0,2323:127	0|0:130,0:130:99:0,390,4597:127	1|0:61,55:116:99:1432,0,2397:127
10	12292454	.	A	G	4808.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1051055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1051055" target="_blank">rs1051055</a>;ExAC.Info.AC=80613;ExAC.Info.AN=124106;ExAC.Info.AF=0.650;ExAC.Info.AC_Het=19664;ExAC.Info.AC_Hom=19229;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=118;snpeff.Amino_Acid_Change=c.*118A>G;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000281141;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000281141;SAVANT_GENE=CDC123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDC123" target="_blank">CDC123</a>;SAVANT_INFO=+/54.6kb/13/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*118A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDC123+c.*118A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12292454">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,18:37:99:579,0,528:110	0|0:42,0:42:99:0,126,1501:110	1|1:0,37:37:99:1512,111,0:110
10	12595147	.	C	T	5326.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=329;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2895524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2895524" target="_blank">rs2895524</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.93-77C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.93C>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378847;SAVANT_GENE=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;SAVANT_INFO=+/486.1kb/11/8.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.93-77C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMK1D+c.93-77C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12595147">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,271,3189:127	0|1:78,58:136:99:1506,0,2244:127	0|1:57,46:103:99:1177,0,1698:127
10	12695177	.	A	G	2163.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7896283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7896283" target="_blank">rs7896283</a>;ExAC.Info.AC=1007;ExAC.Info.AN=5014;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.225-13558A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.225A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378847;SAVANT_GENE=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;SAVANT_INFO=+/486.1kb/11/8.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.225-13558A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMK1D+c.225-13558A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12695177">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,9:27:99:253,0,495:110	0|0:37,0:37:99:0,111,1119:110	1|0:13,25:38:99:689,0,283:110
10	12867598	.	C	G	11301.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1757051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1757051" target="_blank">rs1757051</a>;ExAC.Info.AC=95927;ExAC.Info.AN=126702;ExAC.Info.AF=0.757;ExAC.Info.AC_Het=22917;ExAC.Info.AC_Hom=36485;snpeff.Effect=sequence_feature[region_of_interest:Calmodulin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.948C>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Calmodulin-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.948C>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Autoinhibitory_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.948C>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Autoinhibitory_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.948C>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtG;snpeff.Amino_Acid_Change=p.Val316Val/c.948C>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378847;SAVANT_GENE=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;SAVANT_INFO=+/486.1kb/11/8.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.948C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMK1D+c.948C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12867598">View</a>	GT:AD:DP:GQ:PL:TP	0/1:52,60:112:99:1666,0,1534:127	0/1:61,64:125:99:1872,0,1818:127	0/1:79,60:139:99:1584,0,2305:127
10	12870714	.	A	G	3645.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2482075;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2482075" target="_blank">rs2482075</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1040-54A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1040A>G;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378847;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378847;SAVANT_GENE=CAMK1D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK1D" target="_blank">CAMK1D</a>;SAVANT_INFO=+/486.1kb/11/8.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1040-54A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMK1D+c.1040-54A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12870714">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,19:35:99:447,0,453:69	0|1:22,20:42:99:483,0,614:69	1|1:0,23:23:69:800,69,0:69
10	12940455	.	A	G	10753.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10906249;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10906249" target="_blank">rs10906249</a>;ExAC.Info.AC=125423;ExAC.Info.AN=125754;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=250;ExAC.Info.AC_Hom=60217;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn258Asn/c.774T>C;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=CCDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC3" target="_blank">CCDC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378825;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378825;SAVANT_GENE=CCDC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC3" target="_blank">CCDC3</a>;SAVANT_INFO=-/105.1kb/3/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.774T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC3+c.774T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:12940455">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1277,114,0:119	1|1:0,41:41:99:1414,123,0:119	1|1:0,41:41:99:1473,123,0:119
10	13151224	.	G	A	3042.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Glaucoma_1|_open_angle|_E|_137760_(3)|_{Glaucoma|_normal_tension|_susceptibility_to}|_606657_(3)|_Amyotrophic_lateral_sclerosis_12|_613435_(3);dbSNP139.ID=rs2234968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234968" target="_blank">rs2234968</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Glaucoma|_open_angle|_association_with;hgmd_2014.2.OMIM_ID=602432;hgmd_2014.2.PubMed=17122126;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17122126" target="_blank">17122126</a>;ExAC.Info.AC=30001;ExAC.Info.AN=126676;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=22162;ExAC.Info.AC_Hom=3903;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000082082;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr34Thr/c.102G>A;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263036;SAVANT_GENE=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;SAVANT_INFO=+/38.8kb/15/3.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.102G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTN+c.102G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13151224">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000082082" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,324,3596:127	0|1:51,53:104:99:1540,0,1437:127	0|0:75,0:75:99:0,225,2638:127
10	13151354	.	A	G	3608.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Glaucoma_1|_open_angle|_E|_137760_(3)|_{Glaucoma|_normal_tension|_susceptibility_to}|_606657_(3)|_Amyotrophic_lateral_sclerosis_12|_613435_(3);dbSNP139.ID=rs10906303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10906303" target="_blank">rs10906303</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.166+66A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.167A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.167A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.167A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263036;SAVANT_GENE=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;SAVANT_INFO=+/38.8kb/15/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.166+66A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTN+c.166+66A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13151354">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,1:100:99:0,291,3341:127	0|1:86,64:150:99:1820,0,2565:127	0|0:88,0:88:99:0,264,3137:127
10	13152504	.	GT	G	21421.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Glaucoma_1|_open_angle|_E|_137760_(3)|_{Glaucoma|_normal_tension|_susceptibility_to}|_606657_(3)|_Amyotrophic_lateral_sclerosis_12|_613435_(3);dbSNP139.ID=rs34617995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34617995" target="_blank">rs34617995</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.369+29delT;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_Rab8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.370delT;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_Rab8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.370delT;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_Rab8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.370delT;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_Rab8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.370delT;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.370delT;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.370delT;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.370delT;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263036;SAVANT_GENE=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;SAVANT_INFO=+/38.8kb/15/3.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.369+40delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTN+c.369+40delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13152504">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,103:105:99:2734,276,0:127	1|1:1,123:124:99:4451,345,0:127	1|1:1,111:112:99:2859,305,0:127
10	13158262	.	C	T	3712.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Glaucoma_1|_open_angle|_E|_137760_(3)|_{Glaucoma|_normal_tension|_susceptibility_to}|_606657_(3)|_Amyotrophic_lateral_sclerosis_12|_613435_(3);dbSNP139.ID=rs2244380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2244380" target="_blank">rs2244380</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Glaucoma_1|_open_angle|_association_with;hgmd_2014.2.OMIM_ID=602432;hgmd_2014.2.PubMed=15312511;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15312511" target="_blank">15312511</a>;ExAC.Info.AC=103069;ExAC.Info.AN=126702;ExAC.Info.AF=0.813;ExAC.Info.AC_Het=18648;ExAC.Info.AC_Hom=42076;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.553-5C>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_Rab8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553C>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_Rab8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553C>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_Rab8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553C>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_Rab8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553C>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553C>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263036;SAVANT_GENE=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;SAVANT_INFO=+/38.8kb/15/3.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.553-5C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTN+c.553-5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13158262">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2144:127	0|1:56,38:94:99:944,0,1744:127	0|1:55,36:91:99:932,0,1652:127
10	13164596	.	A	G	5570.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Glaucoma_1|_open_angle|_E|_137760_(3)|_{Glaucoma|_normal_tension|_susceptibility_to}|_606657_(3)|_Amyotrophic_lateral_sclerosis_12|_613435_(3);dbSNP139.ID=rs489040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=489040" target="_blank">rs489040</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.882+109A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.883A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263036;SAVANT_GENE=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;SAVANT_INFO=+/38.8kb/15/3.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.882+109A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTN+c.882+109A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13164596">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2072:127	0|1:39,41:80:99:1264,0,1241:127	0|1:35,47:82:99:1541,0,993:127
10	13166076	.	A	G	56100.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=701;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Glaucoma_1|_open_angle|_E|_137760_(3)|_{Glaucoma|_normal_tension|_susceptibility_to}|_606657_(3)|_Amyotrophic_lateral_sclerosis_12|_613435_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs523747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=523747" target="_blank">rs523747</a>;hgmd_2014.2.CLASS=DM;hgmd_2014.2.PHEN=Glaucoma_1|_open_angle;hgmd_2014.2.OMIM_ID=602432;hgmd_2014.2.PubMed=19710941;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19710941" target="_blank">19710941</a>;ExAC.Info.AC=126341;ExAC.Info.AN=126692;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=319;ExAC.Info.AC_Hom=62472;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Gaa;snpeff.Amino_Acid_Change=p.Lys322Glu/c.964A>G;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263036;SAVANT_GENE=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;SAVANT_INFO=+/38.8kb/15/3.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.964A>G_p.Lys322Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTN+c.964A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13166076">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,199:199:99:6947,598,0:127	1|1:0,299:299:99:10304,898,0:127	1|1:0,203:203:99:7265,610,0:127
10	13167860	.	G	T	2653.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Glaucoma_1|_open_angle|_E|_137760_(3)|_{Glaucoma|_normal_tension|_susceptibility_to}|_606657_(3)|_Amyotrophic_lateral_sclerosis_12|_613435_(3);dbSNP139.ID=rs676302;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=676302" target="_blank">rs676302</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1149-86G>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1149G>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1149G>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1149G>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1149G>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1149G>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1149G>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1149G>T;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263036;SAVANT_GENE=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;SAVANT_INFO=+/38.8kb/15/3.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1149-86G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTN+c.1149-86G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13167860">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1271:104	0|1:18,23:41:99:674,0,593:104	0|1:23,24:47:99:672,0,721:104
10	13178697	.	C	A	2038.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=270;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Glaucoma_1|_open_angle|_E|_137760_(3)|_{Glaucoma|_normal_tension|_susceptibility_to}|_606657_(3)|_Amyotrophic_lateral_sclerosis_12|_613435_(3);dbSNP139.ID=rs10906310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10906310" target="_blank">rs10906310</a>;ExAC.Info.AC=33613;ExAC.Info.AN=126692;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=24063;ExAC.Info.AC_Hom=4429;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1613-48C>A;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1613C>A;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1613C>A;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1613C>A;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1613C>A;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1613C>A;snpeff.Amino_Acid_length=577;snpeff.Gene_Name=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263036;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263036;SAVANT_GENE=OPTN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPTN" target="_blank">OPTN</a>;SAVANT_INFO=+/38.8kb/15/3.8kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1613-48C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPTN+c.1613-48C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13178697">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,264,3067:127	0|0:106,0:106:99:0,319,3892:127	0|1:42,34:76:99:1038,0,1360:127
10	13206233	.	A	T	10904.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=598;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7090944;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7090944" target="_blank">rs7090944</a>;ExAC.Info.AC=100941;ExAC.Info.AN=126692;ExAC.Info.AF=0.797;ExAC.Info.AC_Het=19885;ExAC.Info.AC_Hom=40265;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7+24A>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8A>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8A>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8A>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8A>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361282;SAVANT_GENE=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;SAVANT_INFO=+/49.5kb/20/4.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.7+24A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCM10+c.7+24A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13206233">View</a>	GT:AD:DP:GQ:PL:TP	0|0:174,0:174:99:0,523,5713:127	0|1:135,118:253:99:3286,0,3536:127	0|1:92,79:171:99:2184,0,2557:127
10	13212884	.	C	T	23230.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2147279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2147279" target="_blank">rs2147279</a>;ExAC.Info.AC=93606;ExAC.Info.AN=126498;ExAC.Info.AF=0.740;ExAC.Info.AC_Het=21450;ExAC.Info.AC_Hom=34217;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8-38C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361282;SAVANT_GENE=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;SAVANT_INFO=+/49.5kb/20/4.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.8-38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCM10+c.8-38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13212884">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3336,303,0:127	1|1:0,117:117:99:4223,352,0:127	1|1:0,95:95:99:3233,285,0:127
10	13225119	.	G	A	3850.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11258235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11258235" target="_blank">rs11258235</a>;ExAC.Info.AC=37889;ExAC.Info.AN=126674;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=25666;ExAC.Info.AC_Hom=6072;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1101+19G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:OB-fold_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:OB-fold_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:OB-fold_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:OB-fold_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361282;SAVANT_GENE=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;SAVANT_INFO=+/49.5kb/20/4.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1101+19G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCM10+c.1101+19G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13225119">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,24:52:99:640,0,869:127	1|0:33,26:59:99:736,0,1065:127	0|0:84,0:84:99:0,253,3076:127
10	13230934	.	C	T	9792.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7904071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7904071" target="_blank">rs7904071</a>;ExAC.Info.AC=13854;ExAC.Info.AN=126704;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=11488;ExAC.Info.AC_Hom=1180;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser424Ser/c.1272C>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361282;SAVANT_GENE=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;SAVANT_INFO=+/49.5kb/20/4.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1272C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCM10+c.1272C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13230934">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,28:81:99:729,0,1510:127	0|0:116,0:116:99:0,348,4031:127	1|1:0,100:100:99:3255,300,0:127
10	13234356	.	A	T	8726.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7905784;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7905784" target="_blank">rs7905784</a>;ExAC.Info.AC=15093;ExAC.Info.AN=126700;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=12622;ExAC.Info.AC_Hom=1230;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Tca;snpeff.Amino_Acid_Change=p.Thr541Ser/c.1621A>T;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361282;SAVANT_GENE=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;SAVANT_INFO=+/49.5kb/20/4.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1621A>T_p.Thr541Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCM10+c.1621A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13234356">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,47:96:99:1244,0,1355:127	0|0:108,0:108:99:0,324,3702:127	1|1:0,64:64:99:2240,192,0:127
10	13237015	.	G	A	20977.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10796036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10796036" target="_blank">rs10796036</a>;ExAC.Info.AC=107169;ExAC.Info.AN=126684;ExAC.Info.AF=0.846;ExAC.Info.AC_Het=15662;ExAC.Info.AC_Hom=45246;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1749-26G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000484800;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361282;SAVANT_GENE=MCM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCM10" target="_blank">MCM10</a>;SAVANT_INFO=+/49.5kb/20/4.5kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1749-26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCM10+c.1749-26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13237015">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2782,243,0:127	1|1:0,95:95:99:3450,286,0:127	1|1:0,74:74:99:2571,222,0:127
10	13275553	.	T	G	17780.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3829925;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829925" target="_blank">rs3829925</a>;ExAC.Info.AC=110443;ExAC.Info.AN=126700;ExAC.Info.AF=0.872;ExAC.Info.AC_Het=13540;ExAC.Info.AC_Hom=48420;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Aga/Cga;snpeff.Amino_Acid_Change=p.Arg69Arg/c.205A>C;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378681;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378681;SAVANT_GENE=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;SAVANT_INFO=-/12.6kb/5/0.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.205A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UCMA+c.205A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13275553">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2030,180,0:127	1|1:0,84:84:99:2810,252,0:127	1|1:0,57:57:99:1928,171,0:127
10	13275676	.	T	C	18104.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3829926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829926" target="_blank">rs3829926</a>;ExAC.Info.AC=79550;ExAC.Info.AN=126698;ExAC.Info.AF=0.628;ExAC.Info.AC_Het=28335;ExAC.Info.AC_Hom=25549;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125-43A>G;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378681;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Ucma-N];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125T>C;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378681;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Ucma-N];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125T>C;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378681;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378681;SAVANT_GENE=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;SAVANT_INFO=-/12.6kb/5/0.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.125-43A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UCMA+c.125-43A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13275676">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2479,222,0:127	1|0:52,55:107:99:1365,0,1508:127	1|1:0,79:79:99:2514,237,0:127
10	13275691	.	G	T	15811.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10796042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10796042" target="_blank">rs10796042</a>;ExAC.Info.AC=48804;ExAC.Info.AN=126696;ExAC.Info.AF=0.385;ExAC.Info.AC_Het=28261;ExAC.Info.AC_Hom=10239;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.124+44C>A;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378681;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Ucma-N];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>T;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378681;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Ucma-N];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>T;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378681;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378681;SAVANT_GENE=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;SAVANT_INFO=-/12.6kb/5/0.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.124+44C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UCMA+c.124+44C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13275691">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2220,195,0:127	1|0:48,48:96:99:1242,0,1538:127	1|1:1,66:67:99:2177,170,0:127
10	13276179	.	A	G	9967.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs942418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=942418" target="_blank">rs942418</a>;ExAC.Info.AC=124883;ExAC.Info.AN=126570;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1436;ExAC.Info.AC_Hom=57889;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+22T>C;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378681;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.59A>G;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378681;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.59A>G;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378681;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378681;SAVANT_GENE=UCMA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UCMA" target="_blank">UCMA</a>;SAVANT_INFO=-/12.6kb/5/0.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.58+22T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UCMA+c.58+22T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13276179">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1332,111,0:92	1|1:0,44:44:99:1527,132,0:92	1|1:0,31:31:93:1079,93,0:92
10	13320411	.	A	T	39949.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=558;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Refsum_disease|_266500_(3);dbSNP139.ID=rs825625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=825625" target="_blank">rs825625</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.964-57T>A;snpeff.Amino_Acid_length=338;snpeff.Gene_Name=PHYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHYH" target="_blank">PHYH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263038;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964A>T;snpeff.Amino_Acid_length=338;snpeff.Gene_Name=PHYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHYH" target="_blank">PHYH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263038;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964A>T;snpeff.Amino_Acid_length=338;snpeff.Gene_Name=PHYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHYH" target="_blank">PHYH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263038;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263038;SAVANT_GENE=PHYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHYH" target="_blank">PHYH</a>;SAVANT_INFO=-/22.3kb/9/1.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.964-57T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHYH+c.964-57T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13320411">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,167:168:99:5294,494,0:127	1|1:0,199:199:99:6544,597,0:127	1|1:0,191:191:99:6262,574,0:127
10	13337588	.	G	A	42247.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=602;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Refsum_disease|_266500_(3);dbSNP139.ID=rs1747682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1747682" target="_blank">rs1747682</a>;ExAC.Info.AC=125512;ExAC.Info.AN=126670;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=1059;ExAC.Info.AC_Hom=62155;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000117910;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn51Asn/c.153C>T;snpeff.Amino_Acid_length=338;snpeff.Gene_Name=PHYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHYH" target="_blank">PHYH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263038;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263038;SAVANT_GENE=PHYH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHYH" target="_blank">PHYH</a>;SAVANT_INFO=-/22.3kb/9/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.153C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHYH+c.153C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13337588">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000117910" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,165:165:99:5496,496,0:127	1|1:0,215:215:99:7555,646,0:127	1|1:0,222:222:99:7536,667,0:127
10	13350198	.	G	C	5496.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72781379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72781379" target="_blank">rs72781379</a>;ExAC.Info.AC=5751;ExAC.Info.AN=119418;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=3223;ExAC.Info.AC_Hom=207;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln84Glu/c.250C>G;snpeff.Amino_Acid_length=100;snpeff.Gene_Name=AL138764.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL1387641" target="_blank">AL1387641</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000429930;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429930;SAVANT_GENE=AL138764.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL1387641" target="_blank">AL1387641</a>;SAVANT_INFO=-/0.3kb/1/0.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.250C>G_p.Gln84Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL1387641+c.250C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13350198">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,3085:127	0|1:64,52:116:99:1642,0,1999:127	0|1:45,40:85:99:1126,0,1316:127
10	13378445	.	A	G	15713.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2275128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275128" target="_blank">rs2275128</a>;ExAC.Info.AC=60751;ExAC.Info.AN=108620;ExAC.Info.AF=0.559;ExAC.Info.AC_Het=7441;ExAC.Info.AC_Hom=6558;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.298-95T>C;snpeff.Amino_Acid_length=392;snpeff.Gene_Name=SEPHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPHS1" target="_blank">SEPHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327347;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298A>G;snpeff.Amino_Acid_length=392;snpeff.Gene_Name=SEPHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPHS1" target="_blank">SEPHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327347;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298A>G;snpeff.Amino_Acid_length=392;snpeff.Gene_Name=SEPHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPHS1" target="_blank">SEPHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327347;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327347;SAVANT_GENE=SEPHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEPHS1" target="_blank">SEPHS1</a>;SAVANT_INFO=-/30.9kb/9/3.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.298-95T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEPHS1+c.298-95T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13378445">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,62:92:99:1804,0,800:127	1|1:0,112:112:99:3993,337,0:127	0|1:40,52:92:99:1432,0,1227:127
10	13489201	.	A	AT	23556.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs11408564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11408564" target="_blank">rs11408564</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1234+65_1234+64insA;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=BEND7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEND7" target="_blank">BEND7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396900;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000341083;SAVANT_GENE=BEND7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEND7" target="_blank">BEND7</a>;SAVANT_INFO=-/64.3kb/9/2.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1081+64dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BEND7+c.1081+64dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13489201">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,46:89:99:1419,0,1328:127	1|1:0,183:183:99:6872,561,0:127	0|1:68,73:141:99:2299,0,2107:127
10	13534851	.	A	G	22397.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=400;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2251555;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2251555" target="_blank">rs2251555</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=66498;ExAC.Info.AN=126692;ExAC.Info.AF=0.525;ExAC.Info.AC_Het=30601;ExAC.Info.AC_Hom=17851;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro199Pro/c.597T>C;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=BEND7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEND7" target="_blank">BEND7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396900;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341083;SAVANT_GENE=BEND7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEND7" target="_blank">BEND7</a>;SAVANT_INFO=-/64.3kb/9/2.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.441T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BEND7+c.441T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13534851">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,122:124:99:3488,306,0:127	1|0:77,80:157:99:1909,0,2242:127	1|1:1,118:119:99:3492,352,0:127
10	13538928	.	CAA	C	5400.89	PASS	InheritancePattern=Normal;AC=2;AF=0.667;AN=3;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./0;ExAC.Info.AC=5710;ExAC.Info.AN=85706;ExAC.Info.AF=0.067;ExAC.Info.AC_Het=5974;ExAC.Info.AC_Hom=43;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.449-42_449-41delTT;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=BEND7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEND7" target="_blank">BEND7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396900;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000341083;SAVANT_GENE=BEND7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEND7" target="_blank">BEND7</a>;SAVANT_INFO=-/64.3kb/9/2.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.293-42_293-41delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BEND7+c.293-42_293-41delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13538928">View</a>	GT:AD:DP:GQ:PL	./1:5,21:52:99:1007,459,676	./0:36,4:60:99:352,347,1169	./1:3,20:42:99:864,337,512
10	13538928	.	CAA	CA	5400.89	PASS	InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=0/1;ExAC.Info.AC=10243;ExAC.Info.AN=85706;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=5974;ExAC.Info.AC_Hom=43;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.449-42delT;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=BEND7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEND7" target="_blank">BEND7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396900;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000341083;SAVANT_GENE=BEND7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEND7" target="_blank">BEND7</a>;SAVANT_INFO=-/64.3kb/9/2.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.293-41delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BEND7+c.293-41delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13538928">View</a>	GT:AD:DP:GQ:PL	./1:5,26:52:99:1007,310,265	0/1:36,20:60:99:352,0,359	./1:3,19:42:99:864,332,284
10	13570569	.	GGCGGCAGCGGCGGCA	G	1156.81	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=13;MQ=69.57;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ExAC.Info.AC=1281;ExAC.Info.AN=10342;ExAC.Info.AF=0.124;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=15;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.55_69delGCGGCAGCGGCGGCA;snpeff.Gene_Name=RP11-214D15.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-214D152" target="_blank">RP11-214D152</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438431;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=BEND7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-214D152" target="_blank">RP11-214D152</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-214D152" target="_blank">RP11-214D152</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-214D152+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13570569">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:12:159,12,0:10	1|1:0,5:5:15:171,15,0:10	1|1:0,4:4:13:161,13,0:10
10	13633835	.	A	G	7967.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10906419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10906419" target="_blank">rs10906419</a>;ExAC.Info.AC=49281;ExAC.Info.AN=123428;ExAC.Info.AF=0.399;ExAC.Info.AC_Het=26397;ExAC.Info.AC_Hom=11055;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.489T>C;snpeff.Gene_Name=RP11-295P9.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295P92" target="_blank">RP11-295P92</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445338;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66+4683A>G;snpeff.Amino_Acid_length=342;snpeff.Gene_Name=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295P92" target="_blank">RP11-295P92</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378572;SAVANT_GENE=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF18" target="_blank">PRPF18</a>;SAVANT_INFO=+/43.9kb/10/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.66+4683A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF18+c.66+4683A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13633835">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,27:60:99:768,0,867:127	1|1:0,60:60:99:2164,180,0:127	0|1:33,27:60:99:757,0,923:127
10	13633928	.	GT	G	163.51	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.395delA;snpeff.Gene_Name=RP11-295P9.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295P92" target="_blank">RP11-295P92</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445338;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66+4777delT;snpeff.Amino_Acid_length=342;snpeff.Gene_Name=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295P92" target="_blank">RP11-295P92</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000378572;SAVANT_GENE=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF18" target="_blank">PRPF18</a>;SAVANT_INFO=+/43.9kb/10/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.66+4791delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF18+c.66+4791delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13633928">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,7:29:64:64,0,483:30	0/1:19,5:24:42:42,0,439:30	0/1:21,4:25:31:31,0,408:30
10	13633929	.	T	G	1589.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10796097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10796097" target="_blank">rs10796097</a>;ExAC.Info.AC=30295;ExAC.Info.AN=78388;ExAC.Info.AF=0.386;ExAC.Info.AC_Het=26517;ExAC.Info.AC_Hom=81;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.395A>C;snpeff.Gene_Name=RP11-295P9.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295P92" target="_blank">RP11-295P92</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445338;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66+4777T>G;snpeff.Amino_Acid_length=342;snpeff.Gene_Name=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295P92" target="_blank">RP11-295P92</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378572;SAVANT_GENE=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF18" target="_blank">PRPF18</a>;SAVANT_INFO=+/43.9kb/10/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.66+4777T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF18+c.66+4777T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13633929">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,10:34:99:131,0,528:91	0/1:7,17:24:92:359,0,92:91	0/1:18,13:31:99:229,0,440:91
10	13633930	.	T	G	29.18	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=98;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ExAC.Info.AC=6685;ExAC.Info.AN=106054;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=4679;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.394A>C;snpeff.Gene_Name=RP11-295P9.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295P92" target="_blank">RP11-295P92</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000445338;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66+4778T>G;snpeff.Amino_Acid_length=342;snpeff.Gene_Name=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295P92" target="_blank">RP11-295P92</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378572;SAVANT_GENE=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF18" target="_blank">PRPF18</a>;SAVANT_INFO=+/43.9kb/10/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.66+4778T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF18+c.66+4778T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13633930">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,5:36:8:0,8,918:8	0|1:22,5:27:33:33,0,507:8	0|0:32,3:35:26:0,26,861:8
10	13653653	.	A	G	12423.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=520;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1135102;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1135102" target="_blank">rs1135102</a>;ExAC.Info.AC=52314;ExAC.Info.AN=126702;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=29009;ExAC.Info.AC_Hom=11640;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys183Lys/c.549A>G;snpeff.Amino_Acid_length=342;snpeff.Gene_Name=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF18" target="_blank">PRPF18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378572;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys59Lys/c.177A>G;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RP11-295P9.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF18" target="_blank">PRPF18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000601460;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000378572;SAVANT_GENE=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF18" target="_blank">PRPF18</a>;SAVANT_INFO=+/43.9kb/10/1.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.549A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF18+c.549A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13653653">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,77:151:99:2089,0,1896:127	0|0:179,0:179:99:0,538,6082:127	1|0:90,100:190:99:2844,0,2527:127
10	13658335	.	G	A	27285.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2253308;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2253308" target="_blank">rs2253308</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.421-63G>A;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RP11-295P9.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295P93" target="_blank">RP11-295P93</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000601460;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.793-63G>A;snpeff.Amino_Acid_length=342;snpeff.Gene_Name=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295P93" target="_blank">RP11-295P93</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378572;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378572;SAVANT_GENE=PRPF18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF18" target="_blank">PRPF18</a>;SAVANT_INFO=+/43.9kb/10/1.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.793-63G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF18+c.793-63G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13658335">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3589,309,0:127	1|1:0,129:129:99:4480,388,0:127	1|1:0,127:127:99:4299,382,0:127
10	13693883	.	C	T	29041.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=636;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs11258499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11258499" target="_blank">rs11258499</a>;ExAC.Info.AC=43989;ExAC.Info.AN=126702;ExAC.Info.AF=0.347;ExAC.Info.AC_Het=25969;ExAC.Info.AC_Hom=8929;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*2+20G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=FRMD4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357447;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.577-2470C>T;snpeff.Amino_Acid_length=202;snpeff.Gene_Name=RP11-295P9.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000601460;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000357447;SAVANT_GENE=FRMD4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;SAVANT_INFO=-/687.2kb/25/6.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*22G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRMD4A+c.*22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13693883">View</a>	GT:AD:DP:GQ:PL:TP	0|1:99,91:190:99:2188,0,2798:127	1|1:0,239:239:99:8034,718,0:127	0|1:94,113:207:99:3181,0,2610:127
10	13735685	.	CT	C	962.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs200663128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200663128" target="_blank">rs200663128</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1117+212delA;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=FRMD4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357447;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000357447;SAVANT_GENE=FRMD4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;SAVANT_INFO=-/687.2kb/25/6.8kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1117+212delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRMD4A+c.1117+212delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13735685">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,9:28:81:81,0,331:80	0/1:22,11:33:99:114,0,391:80	0/1:11,7:18:89:89,0,201:80
10	13782124	.	A	G	24612.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10906462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10906462" target="_blank">rs10906462</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.672+70T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=FRMD4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357447;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.131-4389A>G;snpeff.Gene_Name=RP11-353M9.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000449462;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357447;SAVANT_GENE=FRMD4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;SAVANT_INFO=-/687.2kb/25/6.8kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.672+70T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRMD4A+c.672+70T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13782124">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:3281,250,0:127	1|1:0,112:112:99:4126,337,0:127	1|1:0,94:94:99:3506,283,0:127
10	13782605	.	G	A	10913.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6602679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6602679" target="_blank">rs6602679</a>;ExAC.Info.AC=85144;ExAC.Info.AN=126690;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=26513;ExAC.Info.AC_Hom=29179;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.549-28C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=FRMD4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357447;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.131-3908G>A;snpeff.Gene_Name=RP11-353M9.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000449462;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357447;SAVANT_GENE=FRMD4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;SAVANT_INFO=-/687.2kb/25/6.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.549-28C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRMD4A+c.549-28C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13782605">View</a>	GT:AD:DP:GQ:PL:TP	0/1:57,63:120:99:1730,0,1621:127	0/1:68,65:133:99:1716,0,1988:127	0/1:59,50:109:99:1408,0,1763:127
10	13838604	.	A	G	19552.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3740121;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740121" target="_blank">rs3740121</a>;ExAC.Info.AC=63791;ExAC.Info.AN=126698;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=29398;ExAC.Info.AC_Hom=17108;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.207-16T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=FRMD4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357447;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357447;SAVANT_GENE=FRMD4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMD4A" target="_blank">FRMD4A</a>;SAVANT_INFO=-/687.2kb/25/6.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.207-16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRMD4A+c.207-16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:13838604">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,65:127:99:1859,0,1644:127	1|1:1,144:145:99:5114,399,0:127	0|1:56,70:126:99:2065,0,1442:127
10	14425204	.	T	A	726.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12780876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12780876" target="_blank">rs12780876</a>;ExAC.Info.AC=955;ExAC.Info.AN=5872;ExAC.Info.AF=0.163;ExAC.Info.AC_Het=417;ExAC.Info.AC_Hom=79;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.73A>T;snpeff.Gene_Name=MIR4293;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4293" target="_blank">MIR4293</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000584305;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FRMD4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4293" target="_blank">MIR4293</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4293" target="_blank">MIR4293</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIR4293+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14425204">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,817:74	0|0:44,0:44:99:0,132,1578:74	0|1:16,13:29:99:382,0,526:74
10	14569998	.	CTT	C	1343.5	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=58;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.653+2331_653+2332delAA;snpeff.Amino_Acid_length=306;snpeff.Gene_Name=FAM107B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM107B" target="_blank">FAM107B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000181796;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000181796;SAVANT_GENE=FAM107B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM107B" target="_blank">FAM107B</a>;SAVANT_INFO=-/256.3kb/5/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.653+2331_653+2332delAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM107B+c.653+2331_653+2332delAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14569998">View</a>	GT:AD:DP:GQ:PL:TP	0|1:4,15:19:46:409,0,46:3	1|0:13,14:27:99:333,0,356:3	0|0:11,1:12:0:0,0,322:3
10	14595392	.	A	G	7590.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11259179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11259179" target="_blank">rs11259179</a>;ExAC.Info.AC=1661;ExAC.Info.AN=16226;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=1271;ExAC.Info.AC_Hom=107;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.470-22878T>C;snpeff.Amino_Acid_length=306;snpeff.Gene_Name=FAM107B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM107B" target="_blank">FAM107B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000181796;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000181796;SAVANT_GENE=FAM107B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM107B" target="_blank">FAM107B</a>;SAVANT_INFO=-/256.3kb/5/3.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.470-22878T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM107B+c.470-22878T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14595392">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,21:57:99:539,0,923:127	1|1:0,71:71:99:2532,213,0:127	0|0:64,0:64:99:0,192,2211:127
10	14882040	.	A	T	2784.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs57734027;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57734027" target="_blank">rs57734027</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.139-34A>T;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=HSPA14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA14" target="_blank">HSPA14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378372;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378372;SAVANT_GENE=HSPA14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA14" target="_blank">HSPA14</a>;SAVANT_INFO=+/33.6kb/14/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.139-34A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPA14+c.139-34A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14882040">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,21:41:99:625,0,522:78	1|0:34,32:66:99:937,0,1034:78	0|0:26,0:26:78:0,78,976:78
10	14882060	.	AT	A	798.17	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=50;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3830599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3830599" target="_blank">rs3830599</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.139-13delT;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=HSPA14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA14" target="_blank">HSPA14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378372;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000378372;SAVANT_GENE=HSPA14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA14" target="_blank">HSPA14</a>;SAVANT_INFO=+/33.6kb/14/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.139-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPA14+c.139-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14882060">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,10:19:99:228,0,200:18	1|0:12,13:25:99:286,0,267:18	0|0:6,0:6:18:0,18,171:18
10	14884117	.	C	T	2509.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72772418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72772418" target="_blank">rs72772418</a>;ExAC.Info.AC=1;ExAC.Info.AN=19536;ExAC.Info.AF=5.119e-05;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.221+1961C>T;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=HSPA14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA14" target="_blank">HSPA14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378372;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378372;SAVANT_GENE=HSPA14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA14" target="_blank">HSPA14</a>;SAVANT_INFO=+/33.6kb/14/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.221+1961C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPA14+c.221+1961C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14884117">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2381:104	0|1:32,42:74:99:1273,0,1013:104	0|0:35,0:35:99:0,105,1350:104
10	14885598	.	C	T	7088.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41284449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41284449" target="_blank">rs41284449</a>;ExAC.Info.AC=398;ExAC.Info.AN=25136;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=341;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.221+3442C>T;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=HSPA14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA14" target="_blank">HSPA14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378372;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378372;SAVANT_GENE=HSPA14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA14" target="_blank">HSPA14</a>;SAVANT_INFO=+/33.6kb/14/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.221+3442C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPA14+c.221+3442C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14885598">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,41:90:99:1134,0,1394:127	1|0:55,53:108:99:1473,0,1649:127	0|0:107,0:107:99:0,322,3737:127
10	14943176	.	C	G	3279.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61730323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61730323" target="_blank">rs61730323</a>;ExAC.Info.AC=4720;ExAC.Info.AN=126702;ExAC.Info.AF=0.037;ExAC.Info.AC_Het=4479;ExAC.Info.AC_Hom=119;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DCLRE1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041C>G;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=SUV39H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354919;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041C>G;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=SUV39H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354919;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SET];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041C>G;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=SUV39H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354919;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctG;snpeff.Amino_Acid_Change=p.Leu347Leu/c.1041C>G;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=SUV39H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354919;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354919;SAVANT_GENE=SUV39H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUV39H2" target="_blank">SUV39H2</a>;SAVANT_INFO=+/23.6kb/6/1.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1041C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SUV39H2+c.1041C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14943176">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,21:45:99:690,0,638:127	1|0:36,26:62:99:744,0,1015:127	0|0:51,0:51:99:0,153,1737:127
10	14974843	.	G	A	20988.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1219;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Severe_combined_immunodeficiency|_Athabascan_type|_602450_(3)|_Omenn_syndrome|_603554_(3);dbSNP139.ID=rs35927251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35927251" target="_blank">rs35927251</a>;ExAC.Info.AC=20777;ExAC.Info.AN=126704;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=17102;ExAC.Info.AC_Hom=1835;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.780+10C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=DCLRE1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378278;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378278;SAVANT_GENE=DCLRE1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;SAVANT_INFO=-/45.9kb/14/2.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.780+10C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCLRE1C+c.780+10C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14974843">View</a>	GT:AD:DP:GQ:PL:TP	0|1:215,202:417:99:4910,0,6144:127	1|0:209,195:404:99:5388,0,6599:127	0|0:398,0:398:99:0,1196,14517:127
10	14974905	.	T	C	17519.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=909;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Severe_combined_immunodeficiency|_Athabascan_type|_602450_(3)|_Omenn_syndrome|_603554_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12768894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12768894" target="_blank">rs12768894</a>;ExAC.Info.AC=19743;ExAC.Info.AN=126704;ExAC.Info.AF=0.156;ExAC.Info.AC_Het=16333;ExAC.Info.AC_Hom=1704;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His243Arg/c.728A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=DCLRE1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378278;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378278;SAVANT_GENE=DCLRE1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;SAVANT_INFO=-/45.9kb/14/2.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.728A>G_p.His243Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCLRE1C+c.728A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14974905">View</a>	GT:AD:DP:GQ:PL:TP	0|1:152,167:319:99:4490,0,4461:127	1|0:159,146:305:99:4127,0,4796:127	0|0:285,0:285:99:0,857,10522:127
10	14976414	.	G	A	3226.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=379;MQ=69.55;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Severe_combined_immunodeficiency|_Athabascan_type|_602450_(3)|_Omenn_syndrome|_603554_(3);dbSNP139.ID=rs7076862;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7076862" target="_blank">rs7076862</a>;ExAC.Info.AC=52711;ExAC.Info.AN=126704;ExAC.Info.AF=0.416;ExAC.Info.AC_Het=28976;ExAC.Info.AC_Hom=11851;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu215Leu/c.643C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=DCLRE1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378278;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378278;SAVANT_GENE=DCLRE1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;SAVANT_INFO=-/45.9kb/14/2.4kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.643C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCLRE1C+c.643C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14976414">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,330,3695:127	0|0:151,0:151:99:0,452,5233:127	0|1:66,54:120:99:1632,0,1880:127
10	14976727	.	G	C	18759.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1064;MQ=69.88;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Severe_combined_immunodeficiency|_Athabascan_type|_602450_(3)|_Omenn_syndrome|_603554_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35441642;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35441642" target="_blank">rs35441642</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Immunodeficiency|_severe_combined|_atypical;hgmd_2014.2.OMIM_ID=605988;hgmd_2014.2.PubMed=21664875;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21664875" target="_blank">21664875</a>;ExAC.Info.AC=11420;ExAC.Info.AN=126704;ExAC.Info.AF=0.090;ExAC.Info.AC_Het=10166;ExAC.Info.AC_Hom=627;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000029657;Clinvar.PhenotypeIDs=MedGen:C0085110|SNOMED_CT:31323000;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cGa;snpeff.Amino_Acid_Change=p.Pro171Arg/c.512C>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=DCLRE1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378278;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378278;SAVANT_GENE=DCLRE1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C" target="_blank">DCLRE1C</a>;SAVANT_INFO=-/45.9kb/14/2.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.512C>G_p.Pro171Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCLRE1C+c.512C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:14976727">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000029657" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:181,135:316:99:3490,0,5194:127	1|0:224,187:411:99:4858,0,6371:127	0|0:337,0:337:99:0,1012,11198:127
10	15008493	.	A	C	8116.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4750568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4750568" target="_blank">rs4750568</a>;ExAC.Info.AC=83391;ExAC.Info.AN=126688;ExAC.Info.AF=0.658;ExAC.Info.AC_Het=27880;ExAC.Info.AC_Hom=27676;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aCa;snpeff.Amino_Acid_Change=p.Lys9Thr/c.26A>C;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=MEIG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEIG1" target="_blank">MEIG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378240;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000407572;SAVANT_GENE=MEIG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MEIG1" target="_blank">MEIG1</a>;SAVANT_INFO=+/13.4kb/3/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.26A>C_p.Lys9Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MEIG1+c.26A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15008493">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1867,159,0:127	1|0:38,25:63:99:666,0,1172:127	1|0:29,26:55:99:816,0,827:127
10	15057374	.	G	A	6867.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2007712;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2007712" target="_blank">rs2007712</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.694C>T;snpeff.Gene_Name=DCLRE1CP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000378211;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCLRE1CP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15057374">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,47:105:99:1236,0,1575:127	0|0:119,0:119:99:0,357,4198:127	1|0:82,68:150:99:1640,0,2329:127
10	15057390	.	G	T	2692.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72774323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72774323" target="_blank">rs72774323</a>;ExAC.Info.AC=570;ExAC.Info.AN=126702;ExAC.Info.AF=4.499e-03;ExAC.Info.AC_Het=568;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.678C>A;snpeff.Gene_Name=DCLRE1CP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000378211;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCLRE1CP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15057390">View</a>	GT:AD:DP:GQ:PL:TP	0|0:130,0:130:99:0,390,4370:127	0|1:66,52:118:99:1365,0,1975:127	0|0:148,0:148:99:0,447,5049:127
10	15106379	.	A	G	6368.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10796255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10796255" target="_blank">rs10796255</a>;ExAC.Info.AC=18000;ExAC.Info.AN=126678;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=14561;ExAC.Info.AC_Hom=1646;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.462-23A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OLAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLAH" target="_blank">OLAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378217;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.229+7153T>C;snpeff.Gene_Name=DCLRE1CP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLAH" target="_blank">OLAH</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000378211;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.462A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OLAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLAH" target="_blank">OLAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378217;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[active_site];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.462A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OLAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLAH" target="_blank">OLAH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378217;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378217;SAVANT_GENE=OLAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLAH" target="_blank">OLAH</a>;SAVANT_INFO=+/29.9kb/9/1.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.462-23A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLAH+c.462-23A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15106379">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,36:79:99:981,0,1217:127	1|0:45,61:106:99:1704,0,1262:127	0|0:72,0:72:99:0,216,2506:127
10	15106441	.	A	G	9555.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10906818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10906818" target="_blank">rs10906818</a>;ExAC.Info.AC=54683;ExAC.Info.AN=126700;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=30527;ExAC.Info.AC_Hom=12056;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.229+7091T>C;snpeff.Gene_Name=DCLRE1CP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000378211;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu167Leu/c.501A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OLAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378217;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378217;SAVANT_GENE=OLAH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OLAH" target="_blank">OLAH</a>;SAVANT_INFO=+/29.9kb/9/1.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.501A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OLAH+c.501A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15106441">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,47:105:99:1462,0,1556:127	0/1:82,48:130:99:1332,0,2193:127	0/1:54,44:98:99:1187,0,1572:127
10	15121165	.	A	G	4919.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72774373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72774373" target="_blank">rs72774373</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.61-126T>C;snpeff.Gene_Name=DCLRE1CP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000378211;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13-126T>C;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>G;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>G;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>G;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>G;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>G;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>G;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356189;SAVANT_GENE=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD7" target="_blank">ACBD7</a>;SAVANT_INFO=-/11.3kb/4/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.13-126T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACBD7+c.13-126T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15121165">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,312,3527:127	0|1:71,79:150:99:2478,0,1993:127	0|0:117,0:117:99:0,352,4194:127
10	15121195	.	A	C	2806.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11259464;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11259464" target="_blank">rs11259464</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.61-156T>G;snpeff.Gene_Name=DCLRE1CP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000378211;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13-156T>G;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>C;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>C;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>C;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>C;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>C;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>C;snpeff.Amino_Acid_length=88;snpeff.Gene_Name=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1CP1" target="_blank">DCLRE1CP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356189;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356189;SAVANT_GENE=ACBD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD7" target="_blank">ACBD7</a>;SAVANT_INFO=-/11.3kb/4/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.13-156T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACBD7+c.13-156T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15121195">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,2:75:99:0,205,2326:127	0|1:56,48:104:99:1422,0,1590:127	0|0:83,1:84:99:0,242,2846:127
10	15130794	.	C	G	1198.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs79247418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79247418" target="_blank">rs79247418</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79247418" target="_blank">rs79247418</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15130794">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1446:127	0|1:37,23:60:99:618,0,1089:127	0|0:46,0:46:99:0,138,1480:127
10	15138615	.	C	T	3116.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7896053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7896053" target="_blank">rs7896053</a>;ExAC.Info.AC=17873;ExAC.Info.AN=126698;ExAC.Info.AF=0.141;ExAC.Info.AC_Het=13074;ExAC.Info.AC_Hom=2397;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg70Lys/c.209G>A;snpeff.Amino_Acid_length=155;snpeff.Gene_Name=C10orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf111" target="_blank">C10orf111</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378207;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378207;SAVANT_GENE=C10orf111;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf111" target="_blank">C10orf111</a>;SAVANT_INFO=-/1.9kb/2/1.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.209G>A_p.Arg70Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf111+c.209G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15138615">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,0:95:99:0,286,3351:127	0|1:54,51:105:99:1577,0,1616:127	0|0:88,0:88:99:0,264,3133:127
10	15145569	.	A	G	5122.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=534;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3814171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814171" target="_blank">rs3814171</a>;ExAC.Info.AC=2659;ExAC.Info.AN=126704;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2568;ExAC.Info.AC_Hom=45;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NMT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NMT2" target="_blank">NMT2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile86Val/c.256A>G;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=RPP38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NMT2" target="_blank">NMT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378197;SAVANT_GENE=RPP38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPP38" target="_blank">RPP38</a>;SAVANT_INFO=+/6.9kb/3/1.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.256A>G_p.Ile86Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPP38+c.256A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15145569">View</a>	GT:AD:DP:GQ:PL:TP	0|0:154,0:154:99:0,463,4896:127	0|1:108,91:199:99:2580,0,2995:127	0|0:181,0:181:99:0,543,5863:127
10	15145855	.	C	G	4180.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=321;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs15772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=15772" target="_blank">rs15772</a>;ExAC.Info.AC=32660;ExAC.Info.AN=126704;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=20780;ExAC.Info.AC_Hom=5929;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NMT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NMT2" target="_blank">NMT2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gGg;snpeff.Amino_Acid_Change=p.Ala181Gly/c.542C>G;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=RPP38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NMT2" target="_blank">NMT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378197;SAVANT_GENE=RPP38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPP38" target="_blank">RPP38</a>;SAVANT_INFO=+/6.9kb/3/1.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.542C>G_p.Ala181Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPP38+c.542C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15145855">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,316,3695:127	0|1:67,66:133:99:2109,0,2028:127	0|0:83,0:83:99:0,249,2850:127
10	15146061	.	C	G	5592.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=476;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34040166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34040166" target="_blank">rs34040166</a>;ExAC.Info.AC=6957;ExAC.Info.AN=126674;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=6508;ExAC.Info.AC_Hom=217;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NMT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NMT2" target="_blank">NMT2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Ggg;snpeff.Amino_Acid_Change=p.Arg250Gly/c.748C>G;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=RPP38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NMT2" target="_blank">NMT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378203;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378197;SAVANT_GENE=RPP38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPP38" target="_blank">RPP38</a>;SAVANT_INFO=+/6.9kb/3/1.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.748C>G_p.Arg250Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPP38+c.748C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15146061">View</a>	GT:AD:DP:GQ:PL:TP	0|0:131,0:131:99:0,394,4465:127	0|1:98,93:191:99:2815,0,2805:127	0|0:154,0:154:99:0,463,5142:127
10	15154974	.	A	G	20651.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs7072269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7072269" target="_blank">rs7072269</a>;ExAC.Info.AC=119826;ExAC.Info.AN=126704;ExAC.Info.AF=0.946;ExAC.Info.AC_Het=6359;ExAC.Info.AC_Hom=56731;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RPP38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPP38" target="_blank">RPP38</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1171-12T>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=NMT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPP38" target="_blank">RPP38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378165;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378165;SAVANT_GENE=NMT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NMT2" target="_blank">NMT2</a>;SAVANT_INFO=-/60.8kb/12/2.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1171-12T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NMT2+c.1171-12T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15154974">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:3233,268,0:127	1|1:0,111:111:99:3765,333,0:127	1|0:44,43:87:99:1391,0,1384:127
10	15161334	.	G	T	7625.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=621;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs45582333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45582333" target="_blank">rs45582333</a>;ExAC.Info.AC=7050;ExAC.Info.AN=126684;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=6613;ExAC.Info.AC_Hom=216;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RPP38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPP38" target="_blank">RPP38</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1170+8C>A;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=NMT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPP38" target="_blank">RPP38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378165;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>A;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=NMT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPP38" target="_blank">RPP38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378165;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378165;SAVANT_GENE=NMT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NMT2" target="_blank">NMT2</a>;SAVANT_INFO=-/60.8kb/12/2.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1170+8C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NMT2+c.1170+8C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15161334">View</a>	GT:AD:DP:GQ:PL:TP	0|0:206,0:206:99:0,619,7243:127	0|1:118,132:250:99:3832,0,3663:127	0|0:165,0:165:99:0,496,6057:127
10	15177237	.	T	C	2044.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12243440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12243440" target="_blank">rs12243440</a>;ExAC.Info.AC=9078;ExAC.Info.AN=126690;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=8306;ExAC.Info.AC_Hom=351;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RPP38;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPP38" target="_blank">RPP38</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.391+36A>G;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=NMT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPP38" target="_blank">RPP38</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378165;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378165;SAVANT_GENE=NMT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NMT2" target="_blank">NMT2</a>;SAVANT_INFO=-/60.8kb/12/2.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.391+36A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NMT2+c.391+36A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15177237">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2134:127	0|1:53,40:93:99:1041,0,1524:127	0|0:90,0:90:99:0,270,3030:127
10	15256194	.	G	A	3152.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=406;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3814165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814165" target="_blank">rs3814165</a>;ExAC.Info.AC=18950;ExAC.Info.AN=126704;ExAC.Info.AF=0.150;ExAC.Info.AC_Het=15871;ExAC.Info.AC_Hom=1535;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1393G>A;snpeff.Amino_Acid_length=890;snpeff.Gene_Name=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378116;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1393G>A;snpeff.Amino_Acid_length=890;snpeff.Gene_Name=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378116;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro465Ser/c.1393C>T;snpeff.Amino_Acid_length=890;snpeff.Gene_Name=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378116;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378116;SAVANT_GENE=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;SAVANT_INFO=-/159.4kb/8/4.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1393C>T_p.Pro465Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM171A1+c.1393C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15256194">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,400,4430:127	0|0:148,0:148:99:0,445,5497:127	0|1:59,66:125:99:1595,0,1660:127
10	15263100	.	C	T	2274.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6602828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6602828" target="_blank">rs6602828</a>;ExAC.Info.AC=23738;ExAC.Info.AN=126682;ExAC.Info.AF=0.187;ExAC.Info.AC_Het=18662;ExAC.Info.AC_Hom=2411;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.755-41G>A;snpeff.Amino_Acid_length=890;snpeff.Gene_Name=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378116;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.755C>T;snpeff.Amino_Acid_length=890;snpeff.Gene_Name=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378116;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.755C>T;snpeff.Amino_Acid_length=890;snpeff.Gene_Name=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378116;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.755C>T;snpeff.Amino_Acid_length=890;snpeff.Gene_Name=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378116;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.755C>T;snpeff.Amino_Acid_length=890;snpeff.Gene_Name=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378116;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.755C>T;snpeff.Amino_Acid_length=890;snpeff.Gene_Name=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378116;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.755C>T;snpeff.Amino_Acid_length=890;snpeff.Gene_Name=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378116;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.755C>T;snpeff.Amino_Acid_length=890;snpeff.Gene_Name=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378116;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378116;SAVANT_GENE=FAM171A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM171A1" target="_blank">FAM171A1</a>;SAVANT_INFO=-/159.4kb/8/4.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.755-41G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM171A1+c.755-41G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15263100">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,264,2804:127	0|0:127,0:127:99:0,382,4203:127	0|1:46,40:86:99:1156,0,1303:127
10	15413071	.	G	A	1694.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs192904368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=192904368" target="_blank">rs192904368</a>;ExAC.Info.AC=9309;ExAC.Info.AN=17794;ExAC.Info.AF=0.523;ExAC.Info.AC_Het=1680;ExAC.Info.AC_Hom=1572;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=192904368" target="_blank">rs192904368</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15413071">View</a>	GT:AD:DP:GQ:PL:TP	1|0:6,9:15:99:231,0,103:41	0|0:15,0:15:45:0,45,479:41	1|1:0,15:15:45:485,45,0:41
10	15573050	.	A	G	27489.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1041135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1041135" target="_blank">rs1041135</a>;ExAC.Info.AC=123157;ExAC.Info.AN=126702;ExAC.Info.AF=0.972;ExAC.Info.AC_Het=2963;ExAC.Info.AC_Hom=60076;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2981A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2981A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2981A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2981A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2981A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2981A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2981A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" 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target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2981A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2981A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2981T>C;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTa/gCa;snpeff.Amino_Acid_Change=p.Val994Ala/c.2981T>C;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378076;SAVANT_GENE=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;SAVANT_INFO=-/206.2kb/30/6.8kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.2981T>C_p.Val994Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGA8+c.2981T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15573050">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:4002,330,0:127	1|1:0,141:141:99:4995,423,0:127	1|1:0,106:106:99:3815,319,0:127
10	15600271	.	A	G	1256.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2277204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2277204" target="_blank">rs2277204</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2638-70T>C;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_heavy_and_light_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2638A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_heavy_and_light_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2638A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_heavy_and_light_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2638A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2638A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2638A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2638A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2638A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" 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target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15600271">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2040:127	0|1:41,26:67:99:647,0,1096:127	0|0:51,0:51:99:0,153,1782:127
10	15648243	.	C	T	42888.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2282383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282383" target="_blank">rs2282383</a>;ExAC.Info.AC=94995;ExAC.Info.AN=126608;ExAC.Info.AF=0.750;ExAC.Info.AC_Het=22435;ExAC.Info.AC_Hom=35630;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1902+41G>A;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1903C>T;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a 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target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378076;SAVANT_GENE=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;SAVANT_INFO=-/206.2kb/30/6.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1902+41G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGA8+c.1902+41G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15648243">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,181:181:99:5870,543,0:127	1|1:0,212:212:99:7071,637,0:127	1|1:0,160:160:99:5468,480,0:127
10	15658588	.	C	T	2462.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs9333266;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9333266" target="_blank">rs9333266</a>;ExAC.Info.AC=203;ExAC.Info.AN=126698;ExAC.Info.AF=1.602e-03;ExAC.Info.AC_Het=207;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1400-30G>A;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[calcium-binding_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1400C>T;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a 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target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15658588">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,276,3077:127	0|0:104,0:104:99:0,313,3573:127	0|1:44,46:90:99:1250,0,1262:127
10	15701093	.	A	G	5997.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9333128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9333128" target="_blank">rs9333128</a>;ExAC.Info.AC=15058;ExAC.Info.AN=126596;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=12560;ExAC.Info.AC_Hom=1097;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.892-39T>C;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:FG-GAP_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.892A>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a 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target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378076;SAVANT_GENE=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;SAVANT_INFO=-/206.2kb/30/6.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.892-39T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGA8+c.892-39T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15701093">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,27:52:99:775,0,760:127	0/1:37,42:79:99:1267,0,1150:127	0/1:36,23:59:99:692,0,1048:127
10	15702992	.	C	A	11168.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=328;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9333114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9333114" target="_blank">rs9333114</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.848-71G>T;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:FG-GAP_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.848C>A;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" 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10	15713541	.	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target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378076;SAVANT_GENE=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;SAVANT_INFO=-/206.2kb/30/6.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.847+61A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGA8+c.847+61A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15713541">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,33:74:99:1021,0,1177:127	0|1:48,32:80:99:1037,0,1450:127	1|1:0,45:45:99:1745,135,0:127
10	15713667	.	C	G	12022.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7100510;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7100510" target="_blank">rs7100510</a>;ExAC.Info.AC=83713;ExAC.Info.AN=126658;ExAC.Info.AF=0.661;ExAC.Info.AC_Het=26542;ExAC.Info.AC_Hom=27784;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.803-21G>C;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:FG-GAP_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.803C>G;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a 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target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378076;SAVANT_GENE=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;SAVANT_INFO=-/206.2kb/30/6.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.803-21G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGA8+c.803-21G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15713667">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,44:81:99:1197,0,1124:127	0|1:55,61:116:99:1744,0,1752:127	1|1:0,77:77:99:2701,231,0:127
10	15726088	.	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href="https://www.google.com/search?q=ITGA8+c.483G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15726088">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,51:98:99:1318,0,1250:127	0|0:129,0:129:99:0,387,4239:127	1|0:49,47:96:99:1403,0,1425:127
10	15729923	.	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target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.445C>T;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.445C>T;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.445C>T;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.445C>T;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.445C>T;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.445C>T;snpeff.Amino_Acid_length=1063;snpeff.Gene_Name=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378076;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378076;SAVANT_GENE=ITGA8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA8" target="_blank">ITGA8</a>;SAVANT_INFO=-/206.2kb/30/6.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.444+14G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGA8+c.444+14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15729923">View</a>	GT:AD:DP:GQ:PL:TP	0/1:85,90:175:99:2543,0,2230:127	0/1:107,102:209:99:2920,0,2944:127	0/1:91,81:172:99:2294,0,2650:127
10	15831361	.	C	G	1544.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41289287;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41289287" target="_blank">rs41289287</a>;ExAC.Info.AC=1130;ExAC.Info.AN=126542;ExAC.Info.AF=8.930e-03;ExAC.Info.AC_Het=1098;ExAC.Info.AC_Hom=9;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.956-43G>C;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=FAM188A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM188A" target="_blank">FAM188A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277632;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277632;SAVANT_GENE=FAM188A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM188A" target="_blank">FAM188A</a>;SAVANT_INFO=-/82.4kb/15/2.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.956-43G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM188A+c.956-43G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15831361">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,2024:127	0|0:76,0:76:99:0,228,2610:127	0|1:32,27:59:99:791,0,876:127
10	15863537	.	G	C	350.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=68;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72781880;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72781880" target="_blank">rs72781880</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.801+118C>G;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=FAM188A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM188A" target="_blank">FAM188A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277632;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277632;SAVANT_GENE=FAM188A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM188A" target="_blank">FAM188A</a>;SAVANT_INFO=-/82.4kb/15/2.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.801+118C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM188A+c.801+118C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15863537">View</a>	GT:AD:DP:GQ:PL:TP	0|0:16,0:16:48:0,48,557:47	0|0:30,0:30:90:0,90,1098:47	0|1:14,8:22:99:194,0,417:47
10	15902303	.	A	G	2614.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2297882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297882" target="_blank">rs2297882</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Non-small-cell_lung_cancer|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=611649;hgmd_2014.2.PubMed=21499297;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21499297" target="_blank">21499297</a>;ExAC.Info.AC=35326;ExAC.Info.AN=125812;ExAC.Info.AF=0.281;ExAC.Info.AC_Het=18994;ExAC.Info.AC_Hom=3949;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=5;snpeff.Amino_Acid_Change=c.-5T>C;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=FAM188A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM188A" target="_blank">FAM188A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277632;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277632;SAVANT_GENE=FAM188A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM188A" target="_blank">FAM188A</a>;SAVANT_INFO=-/82.4kb/15/2.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-5T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM188A+c.-5T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:15902303">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,300,3180:127	0|1:47,54:101:99:1326,0,1342:127	0|0:78,0:78:99:0,234,2645:127
10	16547058	.	A	G	15060.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=623;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7904014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7904014" target="_blank">rs7904014</a>;ExAC.Info.AC=70371;ExAC.Info.AN=126702;ExAC.Info.AF=0.555;ExAC.Info.AC_Het=29125;ExAC.Info.AC_Hom=20608;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln246Gln/c.738A>G;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=PTER;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTER" target="_blank">PTER</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298942;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378000;SAVANT_GENE=PTER;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTER" target="_blank">PTER</a>;SAVANT_INFO=+/76.8kb/6/3.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.738A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTER+c.738A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16547058">View</a>	GT:AD:DP:GQ:PL:TP	0|1:103,88:191:99:2641,0,2906:127	1|0:99,124:223:99:3618,0,2647:127	0|0:209,0:209:99:0,628,7104:127
10	16556710	.	T	C	11977.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=601;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7909832;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7909832" target="_blank">rs7909832</a>;ExAC.Info.AC=70143;ExAC.Info.AN=126650;ExAC.Info.AF=0.554;ExAC.Info.AC_Het=30176;ExAC.Info.AC_Hom=19701;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.589-4A>G;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=C1QL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QL3" target="_blank">C1QL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298943;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C1q];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.589T>C;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=C1QL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QL3" target="_blank">C1QL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298943;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C1q];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.589T>C;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=C1QL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QL3" target="_blank">C1QL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298943;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298943;SAVANT_GENE=C1QL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QL3" target="_blank">C1QL3</a>;SAVANT_INFO=-/8.3kb/2/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.589-4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1QL3+c.589-4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16556710">View</a>	GT:AD:DP:GQ:PL:TP	1|0:97,85:182:99:2321,0,2850:127	0|0:234,0:234:99:0,703,8123:127	1|0:96,89:185:99:2490,0,2847:127
10	16562600	.	G	A	11510.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=534;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72772306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72772306" target="_blank">rs72772306</a>;ExAC.Info.AC=13986;ExAC.Info.AN=126696;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=12116;ExAC.Info.AC_Hom=914;snpeff.Effect=sequence_feature[domain:C1q];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=C1QL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QL3" target="_blank">C1QL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298943;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C1q];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=C1QL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QL3" target="_blank">C1QL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298943;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His155His/c.465C>T;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=C1QL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QL3" target="_blank">C1QL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298943;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298943;SAVANT_GENE=C1QL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1QL3" target="_blank">C1QL3</a>;SAVANT_INFO=-/8.3kb/2/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.465C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C1QL3+c.465C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16562600">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,79:161:99:2231,0,2411:127	0|0:234,0:234:99:0,702,7861:127	1|0:63,76:139:99:2020,0,1878:127
10	16737156	.	T	TG	2209.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.599-2_599-3insC;snpeff.Amino_Acid_length=277;snpeff.Gene_Name=RSU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSU1" target="_blank">RSU1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377921;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.599_600insC;snpeff.Amino_Acid_length=277;snpeff.Gene_Name=RSU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSU1" target="_blank">RSU1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377921;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000377921;SAVANT_GENE=RSU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSU1" target="_blank">RSU1</a>;SAVANT_INFO=-/226.8kb/8/3.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.599-3dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RSU1+c.599-3dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16737156">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,15:50:99:269,0,797:127	0/1:47,24:71:99:455,0,969:127	0/1:49,13:62:99:157,0,1209:127
10	16737167	.	A	G	777.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=223;MQ=69.95;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs45561438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45561438" target="_blank">rs45561438</a>;ExAC.Info.AC=17253;ExAC.Info.AN=93644;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=12445;ExAC.Info.AC_Hom=906;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.599-13T>C;snpeff.Amino_Acid_length=277;snpeff.Gene_Name=RSU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSU1" target="_blank">RSU1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377921;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377921;SAVANT_GENE=RSU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSU1" target="_blank">RSU1</a>;SAVANT_INFO=-/226.8kb/8/3.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.599-13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RSU1+c.599-13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16737167">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,194,1957:127	0|0:86,0:86:99:0,257,2776:127	0|1:48,24:72:99:407,0,1253:127
10	16769242	.	A	G	584.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs45619140;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45619140" target="_blank">rs45619140</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.209-4035T>C;snpeff.Gene_Name=RP11-197M22.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-197M222" target="_blank">RP11-197M222</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000421480;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.598+25296T>C;snpeff.Amino_Acid_length=277;snpeff.Gene_Name=RSU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-197M222" target="_blank">RP11-197M222</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377921;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377921;SAVANT_GENE=RSU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSU1" target="_blank">RSU1</a>;SAVANT_INFO=-/226.8kb/8/3.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.598+25296T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RSU1+c.598+25296T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16769242">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,980:94	0|0:33,0:33:99:0,99,1181:94	0|1:10,11:21:99:311,0,315:94
10	16878204	.	T	C	28061.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs703062;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=703062" target="_blank">rs703062</a>;ExAC.Info.AC=93708;ExAC.Info.AN=126694;ExAC.Info.AF=0.740;ExAC.Info.AC_Het=23096;ExAC.Info.AC_Hom=35231;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10180+30A>G;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In63/64;SAVANT_HGVS=c.10180+30A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.10180+30A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16878204">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3680,301,0:127	1|1:0,147:147:99:5232,442,0:127	1|1:0,114:114:99:4235,343,0:127
10	16882518	.	T	C	32320.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=500;MQ=69.80;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs703064;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=703064" target="_blank">rs703064</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=86589;ExAC.Info.AN=126330;ExAC.Info.AF=0.685;ExAC.Info.AC_Het=21746;ExAC.Info.AC_Hom=25777;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9843T>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_25];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9843T>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=63;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_25];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9843T>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr3281Thr/c.9843A>G;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=62;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex62;SAVANT_HGVS=c.9843A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.9843A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16882518">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:5023,457,0:127	1|1:0,209:209:99:7011,628,0:127	1|0:62,77:139:99:2171,0,1840:127
10	16911556	.	TG	T	1842.98	VQSRTrancheINDEL99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs375732991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=375732991" target="_blank">rs375732991</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9454+78delC;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In59/60;SAVANT_HGVS=c.9454+78delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.9454+78delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16911556">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,1:43:99:0,100,1128:99	0|1:20,24:44:99:534,0,347:99	0|1:19,19:38:99:412,0,384:99
10	16911605	.	C	A	3458.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs703075;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=703075" target="_blank">rs703075</a>;ExAC.Info.AC=49717;ExAC.Info.AN=126698;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=27356;ExAC.Info.AC_Hom=11088;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9454+30G>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In59/60;SAVANT_HGVS=c.9454+30G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.9454+30G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16911605">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,317,3697:127	0|0:118,0:118:99:0,354,4321:127	0|1:59,62:121:99:1748,0,1648:127
10	16943371	.	G	C	78170.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1028;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2796835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2796835" target="_blank">rs2796835</a>;ExAC.Info.AC=126702;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=63349;snpeff.Effect=sequence_feature[domain:CUB_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8150G>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8150G>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCg/tGg;snpeff.Amino_Acid_Change=p.Ser2717Trp/c.8150C>G;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex52;SAVANT_HGVS=c.8150C>G_p.Ser2717Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.8150C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16943371">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,340:340:99:12428,1021,0:127	1|1:0,359:359:99:13809,1080,0:127	1|1:0,329:329:99:11977,989,0:127
10	16946125	.	T	C	7506.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=732;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs7088988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7088988" target="_blank">rs7088988</a>;ExAC.Info.AC=7284;ExAC.Info.AN=126702;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=6714;ExAC.Info.AC_Hom=283;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7913-11A>G;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7913T>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7913T>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_19];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7913T>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_19];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7913T>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In50/51;SAVANT_HGVS=c.7913-11A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.7913-11A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16946125">View</a>	GT:AD:DP:GQ:PL:TP	0|0:225,0:225:99:0,676,7357:127	0|1:134,129:263:99:3772,0,3719:127	0|0:244,0:244:99:0,733,8373:127
10	16949447	.	A	C	13451.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs780804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=780804" target="_blank">rs780804</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7705+60T>G;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In49/50;SAVANT_HGVS=c.7705+60T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.7705+60T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16949447">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1975,159,0:127	1|1:0,55:55:99:1987,165,0:127	1|1:0,58:58:99:2050,174,0:127
10	16967401	.	C	T	62153.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=886;MQ=69.90;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1276712;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1276712" target="_blank">rs1276712</a>;ExAC.Info.AC=126157;ExAC.Info.AN=126678;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=485;ExAC.Info.AC_Hom=62751;snpeff.Effect=sequence_feature[domain:CUB_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6485C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6485C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tAt;snpeff.Amino_Acid_Change=p.Cys2162Tyr/c.6485G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex43;SAVANT_HGVS=c.6485G>A_p.Cys2162Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.6485G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16967401">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,274:274:99:8991,824,0:127	1|1:1,341:342:99:11580,1001,0:127	1|1:1,269:270:99:9060,788,0:127
10	16967445	.	T	G	57179.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=708;MQ=69.70;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs1276713;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1276713" target="_blank">rs1276713</a>;ExAC.Info.AC=105606;ExAC.Info.AN=126612;ExAC.Info.AF=0.834;ExAC.Info.AC_Het=16777;ExAC.Info.AC_Hom=43981;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6463-22A>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6463T>G;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6463T>G;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In42/43;SAVANT_HGVS=c.6463-22A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.6463-22A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16967445">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,214:214:99:8222,644,0:127	1|1:0,293:293:99:11311,881,0:127	1|1:0,201:201:99:7842,605,0:127
10	16975078	.	G	A	4824.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs2271461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271461" target="_blank">rs2271461</a>;ExAC.Info.AC=26185;ExAC.Info.AN=126702;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=20553;ExAC.Info.AC_Hom=2793;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6124+8C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6125G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6125G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6125G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6125G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6125G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6125C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In40/41;SAVANT_HGVS=c.6124+8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.6124+8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16975078">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,44:91:99:1106,0,1274:127	0|0:84,0:84:99:0,252,3025:127	1|0:41,39:80:99:1045,0,1233:127
10	16979566	.	G	T	2980.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=494;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs2356589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2356589" target="_blank">rs2356589</a>;ExAC.Info.AC=10420;ExAC.Info.AN=126680;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=7843;ExAC.Info.AC_Hom=1145;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5926+25C>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In39/40;SAVANT_HGVS=c.5926+25C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.5926+25C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16979566">View</a>	GT:AD:DP:GQ:PL:TP	0|0:175,0:175:99:0,526,6322:127	0|0:194,0:194:99:0,582,7250:127	0|1:73,52:125:99:1509,0,2287:127
10	16979606	.	G	T	5040.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=735;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2356590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2356590" target="_blank">rs2356590</a>;ExAC.Info.AC=7276;ExAC.Info.AN=126694;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=5781;ExAC.Info.AC_Hom=728;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Act;snpeff.Amino_Acid_Change=p.Pro1971Thr/c.5911C>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex39;SAVANT_HGVS=c.5911C>A_p.Pro1971Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.5911C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16979606">View</a>	GT:AD:DP:GQ:PL:TP	0|0:260,0:260:99:0,781,8997:127	0|0:286,0:286:99:0,859,10139:127	0|1:97,92:189:99:2539,0,2856:127
10	16979661	.	T	C	16392.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=997;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs1801234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801234" target="_blank">rs1801234</a>;ExAC.Info.AC=58410;ExAC.Info.AN=126698;ExAC.Info.AF=0.461;ExAC.Info.AC_Het=29928;ExAC.Info.AC_Hom=14188;snpeff.Effect=sequence_feature[domain:CUB_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5856T>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5856T>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser1952Ser/c.5856A>G;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex39;SAVANT_HGVS=c.5856A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.5856A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16979661">View</a>	GT:AD:DP:GQ:PL:TP	0|0:342,3:345:99:0,948,11690:127	0|1:204,189:393:99:5182,0,5928:127	0|1:138,121:259:99:2996,0,4287:127
10	16982061	.	C	T	4052.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=499;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2271462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271462" target="_blank">rs2271462</a>;ExAC.Info.AC=8673;ExAC.Info.AN=126700;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=6926;ExAC.Info.AC_Hom=872;snpeff.Effect=sequence_feature[domain:CUB_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5518C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5518C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5518C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly1840Ser/c.5518G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.5518G>A_p.Gly1840Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.5518G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16982061">View</a>	GT:AD:DP:GQ:PL:TP	0|0:156,0:156:99:0,468,5261:127	0|0:185,0:185:99:0,555,6272:127	0|1:85,73:158:99:2045,0,2178:127
10	16982244	.	G	T	3192.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs2271463;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271463" target="_blank">rs2271463</a>;ExAC.Info.AC=25250;ExAC.Info.AN=126700;ExAC.Info.AF=0.199;ExAC.Info.AC_Het=19906;ExAC.Info.AC_Hom=2635;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5343-8C>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5343G>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5343G>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5343G>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5343C>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In36/37;SAVANT_HGVS=c.5343-8C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.5343-8C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16982244">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,315,3669:127	0|1:65,56:121:99:1615,0,1972:127	0|0:106,0:106:99:0,318,3899:127
10	16989272	.	G	A	4936.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs61841454;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61841454" target="_blank">rs61841454</a>;ExAC.Info.AC=7712;ExAC.Info.AN=126696;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=7074;ExAC.Info.AC_Hom=313;snpeff.Effect=sequence_feature[domain:CUB_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5304G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5304G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5304G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile1768Ile/c.5304C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.5304C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.5304C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16989272">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,367,4143:127	0|1:43,86:129:99:2487,0,1107:127	0|0:116,0:116:99:0,349,3926:127
10	16989427	.	T	C	1698.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs2271466;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271466" target="_blank">rs2271466</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5210-61A>G;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.5210-61A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.5210-61A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16989427">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,203,2177:127	0|0:65,0:65:99:0,195,2242:127	0|1:36,28:64:99:868,0,1064:127
10	16990552	.	G	A	4752.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=639;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs2271468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271468" target="_blank">rs2271468</a>;ExAC.Info.AC=8662;ExAC.Info.AN=126704;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=6933;ExAC.Info.AC_Hom=838;snpeff.Effect=sequence_feature[domain:CUB_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5134G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5134G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5134G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu1712Leu/c.5134C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.5134C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.5134C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:16990552">View</a>	GT:AD:DP:GQ:PL:TP	0|0:187,1:188:99:0,555,6502:127	0|0:239,0:239:99:0,718,8680:127	0|1:125,87:212:99:2395,0,3730:127
10	17024503	.	G	A	40903.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=691;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1801231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801231" target="_blank">rs1801231</a>;ExAC.Info.AC=98036;ExAC.Info.AN=126702;ExAC.Info.AF=0.774;ExAC.Info.AC_Het=18725;ExAC.Info.AC_Hom=39632;snpeff.Effect=sequence_feature[domain:CUB_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4675G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4675G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4675G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Tca;snpeff.Amino_Acid_Change=p.Pro1559Ser/c.4675C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4675C>T_p.Pro1559Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.4675C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17024503">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,181:182:99:5993,515,0:127	1|1:0,278:278:99:9373,835,0:127	1|0:135,96:231:99:2660,0,3844:127
10	17024615	.	A	T	37341.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=610;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs1801229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801229" target="_blank">rs1801229</a>;ExAC.Info.AC=98029;ExAC.Info.AN=126696;ExAC.Info.AF=0.774;ExAC.Info.AC_Het=18712;ExAC.Info.AC_Hom=39604;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4563A>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4563A>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4563A>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4563A>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atA;snpeff.Amino_Acid_Change=p.Ile1521Ile/c.4563T>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4563T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.4563T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17024615">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,193:193:99:6058,580,0:127	1|1:0,219:219:99:7565,657,0:127	1|0:108,90:198:99:2325,0,3174:127
10	17032281	.	C	T	11813.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs2291521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291521" target="_blank">rs2291521</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4350+52G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4351C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4351C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4351C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4351C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.4350+52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.4350+52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17032281">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,94:174:99:2639,0,2332:127	0|0:194,0:194:99:0,583,6708:127	1|0:63,60:123:99:1876,0,1825:127
10	17032559	.	A	C	21635.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs925522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=925522" target="_blank">rs925522</a>;ExAC.Info.AC=115109;ExAC.Info.AN=126670;ExAC.Info.AF=0.909;ExAC.Info.AC_Het=9229;ExAC.Info.AC_Hom=51989;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4169-45T>G;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.4169-45T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.4169-45T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17032559">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:3937,265,0:127	1|1:0,104:104:99:4700,316,0:127	1|0:45,50:95:99:1900,0,2286:127
10	17032561	.	A	G	21635.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs925523;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=925523" target="_blank">rs925523</a>;ExAC.Info.AC=115105;ExAC.Info.AN=126670;ExAC.Info.AF=0.909;ExAC.Info.AC_Het=9216;ExAC.Info.AC_Hom=51702;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4169-47T>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.4169-47T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.4169-47T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17032561">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:3937,265,0:127	1|1:0,103:103:99:4700,316,0:127	1|0:48,48:96:99:1900,0,2286:127
10	17032590	.	G	A	2026.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs12359150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12359150" target="_blank">rs12359150</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4169-76C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.4169-76C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.4169-76C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17032590">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,2042:127	0|1:33,36:69:99:1032,0,957:127	0|0:69,0:69:99:0,207,2395:127
10	17110595	.	G	A	5776.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=557;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs10795440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10795440" target="_blank">rs10795440</a>;ExAC.Info.AC=108490;ExAC.Info.AN=126692;ExAC.Info.AF=0.856;ExAC.Info.AC_Het=15088;ExAC.Info.AC_Hom=46614;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2791+9C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2791+9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.2791+9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17110595">View</a>	GT:AD:DP:GQ:PL:TP	0|0:181,0:181:99:0,541,5996:127	0|1:111,99:210:99:2907,0,3524:127	0|0:166,0:166:99:0,498,5784:127
10	17141952	.	C	A	15394.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs1033765;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1033765" target="_blank">rs1033765</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1765+52G>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1765+52G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.1765+52G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17141952">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,45:104:99:1250,0,1625:127	1|1:0,125:125:99:4313,376,0:127	0|1:67,68:135:99:1964,0,1991:127
10	17147521	.	G	T	25585.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=564;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1801224;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801224" target="_blank">rs1801224</a>;ExAC.Info.AC=77796;ExAC.Info.AN=126698;ExAC.Info.AF=0.614;ExAC.Info.AC_Het=28836;ExAC.Info.AC_Hom=24471;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Aca;snpeff.Amino_Acid_Change=p.Pro389Thr/c.1165C>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1165C>A_p.Pro389Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.1165C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17147521">View</a>	GT:AD:DP:GQ:PL:TP	0|1:94,105:199:99:2570,0,2570:127	1|1:0,194:194:99:6706,583,0:127	0|1:90,81:171:99:2233,0,2646:127
10	17156151	.	A	G	5965.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1801222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801222" target="_blank">rs1801222</a>;ExAC.Info.AC=91806;ExAC.Info.AN=126684;ExAC.Info.AF=0.725;ExAC.Info.AC_Het=23938;ExAC.Info.AC_Hom=33352;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tCt;snpeff.Amino_Acid_Change=p.Phe253Ser/c.758T>C;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.758T>C_p.Phe253Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.758T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17156151">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,32:62:99:955,0,839:127	1|0:37,44:81:99:1403,0,1112:127	0|0:58,0:58:99:0,174,2039:127
10	17157630	.	C	T	6976.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs2295813;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295813" target="_blank">rs2295813</a>;ExAC.Info.AC=118402;ExAC.Info.AN=126704;ExAC.Info.AF=0.934;ExAC.Info.AC_Het=7622;ExAC.Info.AC_Hom=55380;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.594-34G>A;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594C>T;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.594-34G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.594-34G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17157630">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,39:59:99:1083,0,504:127	1|1:0,49:49:99:1583,147,0:127	0|1:24,25:49:99:719,0,689:127
10	17164760	.	A	AC	14179.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs11409967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11409967" target="_blank">rs11409967</a>;ExAC.Info.AC=118487;ExAC.Info.AN=125836;ExAC.Info.AF=0.942;ExAC.Info.AC_Het=5796;ExAC.Info.AC_Hom=48146;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.593+34_593+33insG;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594_595insC;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594_595insC;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594_595insC;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594_595insC;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.593+33dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.593+33dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17164760">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,30:77:99:896,0,1522:127	1|1:0,112:112:99:4169,340,0:127	0|1:56,47:103:99:1448,0,1759:127
10	17164772	.	CA	C	1407.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=265;MQ=69.97;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.593+21delT;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594delA;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594delA;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594delA;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594delA;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.593+21delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.593+21delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17164772">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,20:76:99:207,0,1011:127	0/1:73,24:97:99:223,0,1375:127	0/1:68,24:92:99:289,0,1242:127
10	17171265	.	G	C	63737.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=829;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Megaloblastic_anemia-1|_Finnish_type|_261100_(3);dbSNP139.ID=rs2281648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281648" target="_blank">rs2281648</a>;ExAC.Info.AC=115841;ExAC.Info.AN=126660;ExAC.Info.AF=0.915;ExAC.Info.AC_Het=7852;ExAC.Info.AC_Hom=53783;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.123-16C>G;snpeff.Amino_Acid_length=3623;snpeff.Gene_Name=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377833;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377833;SAVANT_GENE=CUBN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUBN" target="_blank">CUBN</a>;SAVANT_INFO=-/305.9kb/67/11.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.123-16C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUBN+c.123-16C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17171265">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,248:248:99:8593,745,0:127	1|1:0,305:305:99:11168,917,0:127	1|1:0,276:276:99:10014,830,0:127
10	17195428	.	G	C	16739.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=461;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2273736;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273736" target="_blank">rs2273736</a>;ExAC.Info.AC=59592;ExAC.Info.AN=126250;ExAC.Info.AF=0.472;ExAC.Info.AC_Het=24921;ExAC.Info.AC_Hom=12961;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1075+78C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1076G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377799;SAVANT_GENE=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;SAVANT_INFO=-/54.9kb/11/3.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1075+78C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRDMT1+c.1075+78C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17195428">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,66:136:99:1770,0,1840:127	0|0:178,1:179:99:0,495,6054:127	1|1:1,145:146:99:5057,399,0:127
10	17199419	.	C	G	42375.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=551;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2295810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295810" target="_blank">rs2295810</a>;ExAC.Info.AC=118294;ExAC.Info.AN=126552;ExAC.Info.AF=0.935;ExAC.Info.AC_Het=6280;ExAC.Info.AC_Hom=54378;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.887+21G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.888C>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377799;SAVANT_GENE=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;SAVANT_INFO=-/54.9kb/11/3.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.887+21G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRDMT1+c.887+21G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17199419">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,162:162:99:5624,487,0:127	1|1:0,222:222:99:7835,666,0:127	1|1:0,167:167:99:5698,501,0:127
10	17204139	.	G	A	14726.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=408;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs33993216;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33993216" target="_blank">rs33993216</a>;ExAC.Info.AC=34469;ExAC.Info.AN=126704;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=24547;ExAC.Info.AC_Hom=4951;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.323+26C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.324G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377799;SAVANT_GENE=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;SAVANT_INFO=-/54.9kb/11/3.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.323+26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRDMT1+c.323+26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17204139">View</a>	GT:AD:DP:GQ:PL:TP	0|1:76,56:132:99:1439,0,2211:127	1|1:0,152:152:99:5053,457,0:127	0|0:124,0:124:99:0,373,4354:127
10	17204187	.	G	A	14409.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=393;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11254413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11254413" target="_blank">rs11254413</a>;ExAC.Info.AC=52954;ExAC.Info.AN=126704;ExAC.Info.AF=0.418;ExAC.Info.AC_Het=30064;ExAC.Info.AC_Hom=11437;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cat/Tat;snpeff.Amino_Acid_Change=p.His101Tyr/c.301C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377799;SAVANT_GENE=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;SAVANT_INFO=-/54.9kb/11/3.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.301C>T_p.His101Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRDMT1+c.301C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17204187">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,58:129:99:1458,0,2097:127	1|1:0,146:146:99:4964,439,0:127	0|0:118,0:118:99:0,355,4277:127
10	17216556	.	C	T	18799.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2273734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273734" target="_blank">rs2273734</a>;ExAC.Info.AC=52824;ExAC.Info.AN=126684;ExAC.Info.AF=0.417;ExAC.Info.AC_Het=30011;ExAC.Info.AC_Hom=11382;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr56Thr/c.168G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377799;SAVANT_GENE=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;SAVANT_INFO=-/54.9kb/11/3.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.168G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRDMT1+c.168G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17216556">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,76:154:99:2011,0,2170:127	1|1:0,200:200:99:6788,601,0:127	0|0:171,0:171:99:0,514,5898:127
10	17243480	.	T	A	10336.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1885394;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1885394" target="_blank">rs1885394</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64+90A>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65T>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377799;SAVANT_GENE=TRDMT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRDMT1" target="_blank">TRDMT1</a>;SAVANT_INFO=-/54.9kb/11/3.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.64+90A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRDMT1+c.64+90A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17243480">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1365,132,0:110	1|1:0,50:50:99:1459,147,0:110	1|1:0,37:37:99:1282,111,0:110
10	17362784	.	A	G	12418.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=711;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs717768;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=717768" target="_blank">rs717768</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=93;snpeff.Amino_Acid_Change=c.*93T>C;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377602;SAVANT_GENE=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;SAVANT_INFO=-/134.5kb/8/2.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*93T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST8SIA6+c.*93T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17362784">View</a>	GT:AD:DP:GQ:PL:TP	0|1:97,98:195:99:2537,0,2524:127	1|0:146,134:280:99:3678,0,4058:127	0|0:236,0:236:99:0,709,8115:127
10	17364962	.	A	G	5475.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10466289;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10466289" target="_blank">rs10466289</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.728+102T>C;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377602;SAVANT_GENE=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;SAVANT_INFO=-/134.5kb/8/2.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.728+102T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST8SIA6+c.728+102T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17364962">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,35:80:99:1094,0,1246:127	1|0:42,47:89:99:1604,0,1124:127	0|0:80,0:80:99:0,240,2774:127
10	17365012	.	T	A	13887.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=417;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7085734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7085734" target="_blank">rs7085734</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.728+52A>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377602;SAVANT_GENE=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;SAVANT_INFO=-/134.5kb/8/2.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.728+52A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST8SIA6+c.728+52A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17365012">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,73:136:99:2910,0,2489:127	1|0:67,97:164:99:3893,0,2490:127	0|0:117,0:117:99:0,355,5280:127
10	17365013	.	T	A	13887.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=419;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7085735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7085735" target="_blank">rs7085735</a>;ExAC.Info.AC=42813;ExAC.Info.AN=126616;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=26080;ExAC.Info.AC_Hom=8009;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.728+51A>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377602;SAVANT_GENE=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;SAVANT_INFO=-/134.5kb/8/2.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.728+51A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST8SIA6+c.728+51A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17365013">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,75:139:99:2910,0,2489:127	1|0:66,98:164:99:3893,0,2490:127	0|0:116,0:116:99:0,355,5280:127
10	17365044	.	T	G	13004.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=568;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7085750;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7085750" target="_blank">rs7085750</a>;ExAC.Info.AC=43131;ExAC.Info.AN=126678;ExAC.Info.AF=0.340;ExAC.Info.AC_Het=26129;ExAC.Info.AC_Hom=8461;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.728+20A>C;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377602;SAVANT_GENE=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;SAVANT_INFO=-/134.5kb/8/2.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.728+20A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST8SIA6+c.728+20A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17365044">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,101:180:99:2857,0,2125:127	1|0:111,120:231:99:3425,0,3215:127	0|0:157,0:157:99:0,472,5348:127
10	17365169	.	A	G	8814.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12354751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12354751" target="_blank">rs12354751</a>;ExAC.Info.AC=34632;ExAC.Info.AN=126678;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=23803;ExAC.Info.AC_Hom=5380;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.636-13T>C;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.636A>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377602;SAVANT_GENE=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;SAVANT_INFO=-/134.5kb/8/2.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.636-13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST8SIA6+c.636-13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17365169">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,70:134:99:2132,0,1786:127	1|0:71,73:144:99:2284,0,2162:127	0|0:96,0:96:99:0,289,3309:127
10	17373617	.	G	A	10482.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=513;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2120716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2120716" target="_blank">rs2120716</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.378-66C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377602;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377602;SAVANT_GENE=ST8SIA6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST8SIA6" target="_blank">ST8SIA6</a>;SAVANT_INFO=-/134.5kb/8/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.378-66C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST8SIA6+c.378-66C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17373617">View</a>	GT:AD:DP:GQ:PL:TP	0|1:86,72:158:99:1966,0,2589:127	1|0:90,90:180:99:2665,0,2917:127	0|0:175,0:175:99:0,526,6611:127
10	17636309	.	G	A	8726.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1053926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1053926" target="_blank">rs1053926</a>;ExAC.Info.AC=29306;ExAC.Info.AN=126678;ExAC.Info.AF=0.231;ExAC.Info.AC_Het=21469;ExAC.Info.AC_Hom=3891;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.679G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361271;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cat/Tat;snpeff.Amino_Acid_Change=p.His227Tyr/c.679C>T;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361271;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361271;SAVANT_GENE=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;SAVANT_INFO=-/27.4kb/7/1.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.679C>T_p.His227Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPLA+c.679C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17636309">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:1915,177,0:127	1|0:48,38:86:99:964,0,1421:127	1|0:50,43:93:99:1055,0,1453:127
10	17645814	.	C	T	7633.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2252808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2252808" target="_blank">rs2252808</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.376-71G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361271;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376C>T;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361271;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376C>T;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361271;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361271;SAVANT_GENE=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;SAVANT_INFO=-/27.4kb/7/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.376-71G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPLA+c.376-71G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17645814">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1343,126,0:125	1|0:30,31:61:99:924,0,928:125	1|0:27,29:56:99:792,0,863:125
10	17659131	.	C	A	19591.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11254692;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11254692" target="_blank">rs11254692</a>;ExAC.Info.AC=18940;ExAC.Info.AN=18976;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=6227;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208C>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361271;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Ttc;snpeff.Amino_Acid_Change=p.Val70Phe/c.208G>T;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361271;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361271;SAVANT_GENE=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;SAVANT_INFO=-/27.4kb/7/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.208G>T_p.Val70Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPLA+c.208G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17659131">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2462,180,0:127	1|1:0,46:46:99:1970,141,0:127	1|1:0,54:54:99:2312,163,0:127
10	17659149	.	C	T	18665.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7895850;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7895850" target="_blank">rs7895850</a>;ExAC.Info.AC=17231;ExAC.Info.AN=18350;ExAC.Info.AF=0.939;ExAC.Info.AC_Het=730;ExAC.Info.AC_Hom=5404;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.190C>T;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361271;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu64Lys/c.190G>A;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361271;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361271;SAVANT_GENE=PTPLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPLA" target="_blank">PTPLA</a>;SAVANT_INFO=-/27.4kb/7/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.190G>A_p.Glu64Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPLA+c.190G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17659149">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2344,165,0:127	1|1:0,44:44:99:1938,135,0:127	1|1:0,48:48:99:2147,147,0:127
10	17756596	.	T	C	5948.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12221" target="_blank">rs12221</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=24649;ExAC.Info.AN=126702;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=19347;ExAC.Info.AC_Hom=2648;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr480Tyr/c.1440T>C;snpeff.Amino_Acid_length=540;snpeff.Gene_Name=STAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STAM" target="_blank">STAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377524;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377524;SAVANT_GENE=STAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STAM" target="_blank">STAM</a>;SAVANT_INFO=+/71.8kb/14/3.0kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1440T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STAM+c.1440T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17756596">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,39:83:99:1229,0,1354:127	1|0:42,39:81:99:1286,0,1356:127	0|0:64,0:64:99:0,192,2324:127
10	17869577	.	C	T	528.81	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=8;MQ=51.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs370136276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=370136276" target="_blank">rs370136276</a>;ExAC.Info.AC=1648;ExAC.Info.AN=12508;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=192;ExAC.Info.AC_Hom=84;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aTc;snpeff.Amino_Acid_Change=p.Thr167Ile/c.500C>T;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1L1" target="_blank">MRC1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331429;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331429;SAVANT_GENE=MRC1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1L1" target="_blank">MRC1L1</a>;SAVANT_INFO=+/101.8kb/30/5.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.500C>T_p.Thr167Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRC1L1+c.500C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17869577">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,3:3:9:106,9,0:5	1|1:0,3:3:9:116,9,0:5	1|1:0,2:2:6:73,6,0:5
10	17875816	.	T	A	5369.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=63;MQ=30.79;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs56331215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56331215" target="_blank">rs56331215</a>;ExAC.Info.AC=2531;ExAC.Info.AN=102412;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=48;ExAC.Info.AC_Hom=11;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atA;snpeff.Amino_Acid_Change=p.Ile260Ile/c.780T>A;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1L1" target="_blank">MRC1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331429;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331429;SAVANT_GENE=MRC1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1L1" target="_blank">MRC1L1</a>;SAVANT_INFO=+/101.8kb/30/5.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.780T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRC1L1+c.780T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17875816">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,23:24:62:784,62,0:38	1|1:0,26:26:78:901,78,0:38	1|1:0,13:13:39:451,39,0:38
10	17891705	.	A	G	6931.32	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=98;MQ=63.77;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1926736;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1926736" target="_blank">rs1926736</a>;ExAC.Info.AC=66174;ExAC.Info.AN=124036;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=21195;ExAC.Info.AC_Hom=22262;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Ggt;snpeff.Amino_Acid_Change=p.Ser396Gly/c.1186A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1L1" target="_blank">MRC1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331429;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331429;SAVANT_GENE=MRC1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1L1" target="_blank">MRC1L1</a>;SAVANT_INFO=+/101.8kb/30/5.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1186A>G_p.Ser396Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRC1L1+c.1186A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:17891705">View</a>	GT:AD:DP:GQ:PL	./.	1|1:1,96:97:99:3418,247,0	1|1:0,1:1:3:41,3,0
10	18087564	.	C	A	7639.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=446;MQ=45.53;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56389130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56389130" target="_blank">rs56389130</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2074;snpeff.Amino_Acid_Change=c.*2074C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=TMEM236;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM236" target="_blank">TMEM236</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000480516;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000480516;SAVANT_GENE=FAM23B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM23B" target="_blank">FAM23B</a>;SAVANT_INFO=+/48.6kb/4/5.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2074C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM23B+c.*2074C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18087564">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,60:134:99:1480,0,1986:127	0|0:182,0:182:99:0,546,5740:127	1|0:63,67:130:99:1756,0,1651:127
10	18122716	.	A	G	45354.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=740;MQ=62.39;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs111490411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111490411" target="_blank">rs111490411</a>;ExAC.Info.AC=23230;ExAC.Info.AN=97416;ExAC.Info.AF=0.238;ExAC.Info.AC_Het=6079;ExAC.Info.AC_Hom=6826;snpeff.Effect=sequence_feature[domain:C-type_lectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" 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target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln242Gln/c.726A>G;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239761;SAVANT_GENE=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;SAVANT_INFO=+/101.7kb/30/5.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.726A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRC1+c.726A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18122716">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,190:190:99:6952,571,0:127	1|1:0,252:252:99:9524,758,0:127	1|0:185,113:298:99:2976,0,5585:127
10	18198213	.	A	AT	2520.99	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=112;MQ=29.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4079-21_4079-20insT;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4079_4080insT;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4079_4080insT;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4079_4080insT;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4079_4080insT;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4079_4080insT;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" 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target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4079_4080insT;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4079_4080insT;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" 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target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4079_4080insT;snpeff.Amino_Acid_length=1456;snpeff.Gene_Name=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239761;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000239761;SAVANT_GENE=MRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRC1" target="_blank">MRC1</a>;SAVANT_INFO=+/101.7kb/30/5.2kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.4079-9dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRC1+c.4079-9dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18198213">View</a>	GT:AD:DP:GQ:PL:TP	1|1:4,33:37:24:782,24,0:24	1|0:27,14:41:99:241,0,539:24	1|0:21,13:34:99:225,0,421:24
10	18242304	.	T	C	22441.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs691112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=691112" target="_blank">rs691112</a>;ExAC.Info.AC=114794;ExAC.Info.AN=126704;ExAC.Info.AF=0.906;ExAC.Info.AC_Het=10634;ExAC.Info.AC_Hom=52076;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.99T>C;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.99T>C;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.99T>C;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp33Asp/c.99T>C;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377369;SAVANT_GENE=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;SAVANT_INFO=+/91.5kb/13/2.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.99T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A12+c.99T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18242304">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2949,252,0:127	1|1:0,88:88:99:3594,265,0:127	1|1:0,69:69:99:2723,207,0:127
10	18242311	.	A	G	4188.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10764176;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10764176" target="_blank">rs10764176</a>;ExAC.Info.AC=35100;ExAC.Info.AN=126704;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=24571;ExAC.Info.AC_Hom=5258;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106A>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106A>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106A>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser36Gly/c.106A>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377369;SAVANT_GENE=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;SAVANT_INFO=+/91.5kb/13/2.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.106A>G_p.Ser36Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A12+c.106A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18242311">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2688:127	0|1:48,40:88:99:1199,0,1465:127	0|1:36,35:71:99:915,0,1011:127
10	18254606	.	C	A	4696.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs691513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=691513" target="_blank">rs691513</a>;ExAC.Info.AC=44112;ExAC.Info.AN=126684;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=28643;ExAC.Info.AC_Hom=7507;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738C>A;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738C>A;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738C>A;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738C>A;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acA;snpeff.Amino_Acid_Change=p.Thr246Thr/c.738C>A;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377369;SAVANT_GENE=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;SAVANT_INFO=+/91.5kb/13/2.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.738C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A12+c.738C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18254606">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,29:71:99:787,0,1248:127	0|0:82,0:82:99:0,246,2917:127	1|0:42,35:77:99:932,0,1249:127
10	18266989	.	G	A	26364.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=587;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2478568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2478568" target="_blank">rs2478568</a>;ExAC.Info.AC=83431;ExAC.Info.AN=126688;ExAC.Info.AF=0.659;ExAC.Info.AC_Het=28084;ExAC.Info.AC_Hom=27563;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.910G>A;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.910G>A;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.910G>A;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.910G>A;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val304Ile/c.910G>A;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377369;SAVANT_GENE=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;SAVANT_INFO=+/91.5kb/13/2.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.910G>A_p.Val304Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A12+c.910G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18266989">View</a>	GT:AD:DP:GQ:PL:TP	1|0:95,90:185:99:2398,0,2849:127	0|1:97,115:212:99:3235,0,2831:127	1|1:0,190:190:99:6341,571,0:127
10	18270341	.	A	G	1979.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72778328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72778328" target="_blank">rs72778328</a>;ExAC.Info.AC=2499;ExAC.Info.AN=126704;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=2399;ExAC.Info.AC_Hom=49;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1025A>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1025A>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1025A>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1025A>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln342Arg/c.1025A>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377369;SAVANT_GENE=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;SAVANT_INFO=+/91.5kb/13/2.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1025A>G_p.Gln342Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A12+c.1025A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18270341">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1842:127	0|1:28,19:47:99:538,0,835:127	0|1:15,18:33:99:471,0,416:127
10	18280054	.	C	CT	928.31	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=33;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs140784602;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140784602" target="_blank">rs140784602</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1270-25_1270-24insT;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270_1271insT;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270_1271insT;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000377369;SAVANT_GENE=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;SAVANT_INFO=+/91.5kb/13/2.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1270-10dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A12+c.1270-10dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18280054">View</a>	GT:AD:DP:GQ:PL:TP	0/1:1,4:5:10:65,0,10:7	0/1:10,11:21:99:106,0,147:7	0/1:2,5:7:9:107,0,9:7
10	18287792	.	C	T	59349.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=883;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2497761;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2497761" target="_blank">rs2497761</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1601-1804C>T;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601C>T;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601C>T;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601C>T;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601C>T;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377369;SAVANT_GENE=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;SAVANT_INFO=+/91.5kb/13/2.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1601-1804C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A12+c.1601-1804C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18287792">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,275:275:99:8835,825,0:127	1|1:0,327:327:99:12505,992,0:127	1|1:0,281:281:99:9292,843,0:127
10	18287814	.	T	G	8976.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=825;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11818989;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11818989" target="_blank">rs11818989</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1601-1782T>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601T>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601T>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601T>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1601T>G;snpeff.Amino_Acid_length=691;snpeff.Gene_Name=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377369;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377369;SAVANT_GENE=SLC39A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A12" target="_blank">SLC39A12</a>;SAVANT_INFO=+/91.5kb/13/2.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1601-1782T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A12+c.1601-1782T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18287814">View</a>	GT:AD:DP:GQ:PL:TP	0|0:250,0:250:99:0,751,7930:127	0|1:158,162:320:99:4507,0,4063:127	0|0:255,0:255:99:0,766,8637:127
10	18430167	.	G	C	4683.3	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Brugada_syndrome_4|_611876_(3);dbSNP139.ID=rs150534429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150534429" target="_blank">rs150534429</a>;ExAC.Info.AC=959;ExAC.Info.AN=62736;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=143;ExAC.Info.AC_Hom=55;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.120+382G>C;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324631;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324631;SAVANT_GENE=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;SAVANT_INFO=+/400.5kb/14/3.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.120+382G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNB2+c.120+382G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18430167">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,29:34:99:762,0,102:10	0|0:17,0:17:51:0,51,534:10	1|0:4,36:40:10:1046,0,10:10
10	18789724	.	T	G	4808.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=504;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Brugada_syndrome_4|_611876_(3);dbSNP139.ID=rs4485000;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4485000" target="_blank">rs4485000</a>;ExAC.Info.AC=35109;ExAC.Info.AN=126688;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=24209;ExAC.Info.AC_Hom=5393;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.457-17T>G;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324631;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.457T>G;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324631;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.457T>G;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324631;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324631;SAVANT_GENE=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;SAVANT_INFO=+/400.5kb/14/3.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.457-17T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNB2+c.457-17T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18789724">View</a>	GT:AD:DP:GQ:PL:TP	0|0:153,0:153:99:0,460,5355:127	0|1:97,81:178:99:2423,0,2775:127	0|0:173,0:173:99:0,520,6099:127
10	18804094	.	T	C	4106.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Brugada_syndrome_4|_611876_(3);dbSNP139.ID=rs7088091;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7088091" target="_blank">rs7088091</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.804+796T>C;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324631;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.483-1505A>G;snpeff.Gene_Name=RP11-499P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425669;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324631;SAVANT_GENE=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;SAVANT_INFO=+/400.5kb/14/3.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.804+796T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNB2+c.804+796T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18804094">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,321,3548:127	0|1:58,66:124:99:2072,0,1715:127	0|0:120,0:120:99:0,363,4019:127
10	18826974	.	T	C	4688.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Brugada_syndrome_4|_611876_(3);dbSNP139.ID=rs2272274;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272274" target="_blank">rs2272274</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1303-135T>C;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324631;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.482+1149A>G;snpeff.Gene_Name=RP11-499P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425669;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324631;SAVANT_GENE=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;SAVANT_INFO=+/400.5kb/14/3.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1303-135T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNB2+c.1303-135T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18826974">View</a>	GT:AD:DP:GQ:PL:TP	0|0:138,0:138:99:0,414,4412:127	0|1:94,80:174:99:2363,0,2715:127	0|0:126,0:126:99:0,379,4180:127
10	18828663	.	G	T	2700.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Brugada_syndrome_4|_611876_(3);dbSNP139.ID=rs4747352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4747352" target="_blank">rs4747352</a>;ExAC.Info.AC=98141;ExAC.Info.AN=124870;ExAC.Info.AF=0.786;ExAC.Info.AC_Het=19682;ExAC.Info.AC_Hom=37571;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.377-435C>A;snpeff.Gene_Name=RP11-499P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499P202" target="_blank">RP11-499P202</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425669;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.*10G>T;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499P202" target="_blank">RP11-499P202</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324631;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324631;SAVANT_GENE=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;SAVANT_INFO=+/400.5kb/14/3.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*10G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNB2+c.*10G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18828663">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,0:103:99:0,309,3845:127	0|1:76,45:121:99:1369,0,2500:127	0|0:86,0:86:99:0,258,3267:127
10	18828669	.	GT	G	1029.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Brugada_syndrome_4|_611876_(3);dbSNP139.ID=rs67831174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67831174" target="_blank">rs67831174</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.377-442delA;snpeff.Gene_Name=RP11-499P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499P202" target="_blank">RP11-499P202</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425669;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=17;snpeff.Amino_Acid_Change=c.*17delT;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499P202" target="_blank">RP11-499P202</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324631;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000324631;SAVANT_GENE=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;SAVANT_INFO=+/400.5kb/14/3.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*35delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNB2+c.*35delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18828669">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,19:37:99:191,0,223:127	0/1:20,23:43:99:263,0,236:127	0/1:12,11:23:99:135,0,146:127
10	18828721	.	C	CAA	2613.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Brugada_syndrome_4|_611876_(3);dbSNP139.ID=rs3841459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3841459" target="_blank">rs3841459</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.377-493_377-494insTT;snpeff.Gene_Name=RP11-499P20.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499P202" target="_blank">RP11-499P202</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425669;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=69;snpeff.Amino_Acid_Change=c.*69_*70insAA;snpeff.Amino_Acid_length=660;snpeff.Gene_Name=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-499P202" target="_blank">RP11-499P202</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324631;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000324631;SAVANT_GENE=CACNB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB2" target="_blank">CACNB2</a>;SAVANT_INFO=+/400.5kb/14/3.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*70_*71dupAA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CACNB2+c.*70_*71dupAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18828721">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,235,3391:127	0|1:47,37:84:99:1330,0,1822:127	0|0:76,0:76:99:0,229,3311:127
10	18931512	.	T	C	1022.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=73;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7907153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7907153" target="_blank">rs7907153</a>;ExAC.Info.AC=74004;ExAC.Info.AN=126650;ExAC.Info.AF=0.584;ExAC.Info.AC_Het=29115;ExAC.Info.AC_Hom=22344;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.196-28A>G;snpeff.Amino_Acid_length=90;snpeff.Gene_Name=RP11-139J15.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-139J157" target="_blank">RP11-139J157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000606425;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.232-28A>G;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=NSUN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-139J157" target="_blank">RP11-139J157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377304;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377304;SAVANT_GENE=NSUN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN6" target="_blank">NSUN6</a>;SAVANT_INFO=-/106.1kb/11/2.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.232-28A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSUN6+c.232-28A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18931512">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,880:68	0|1:8,15:23:99:530,0,231:68	0|0:23,0:23:69:0,69,815:68
10	18937579	.	A	AAAG	839.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs45468894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45468894" target="_blank">rs45468894</a>;ExAC.Info.AC=74912;ExAC.Info.AN=126608;ExAC.Info.AF=0.592;ExAC.Info.AC_Het=27193;ExAC.Info.AC_Hom=21609;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.40-5_40-6insCTT;snpeff.Amino_Acid_length=90;snpeff.Gene_Name=RP11-139J15.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-139J157" target="_blank">RP11-139J157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000606425;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.76-5_76-6insCTT;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=NSUN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-139J157" target="_blank">RP11-139J157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377304;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.40_41insCTT;snpeff.Amino_Acid_length=90;snpeff.Gene_Name=RP11-139J15.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-139J157" target="_blank">RP11-139J157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000606425;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76_77insCTT;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=NSUN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-139J157" target="_blank">RP11-139J157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377304;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000377304;SAVANT_GENE=NSUN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN6" target="_blank">NSUN6</a>;SAVANT_INFO=-/106.1kb/11/2.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.76-8_76-6dupCTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSUN6+c.76-8_76-6dupCTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18937579">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:73:0,73,1242:72	0|1:20,12:32:99:443,0,933:72	0|0:30,0:30:91:0,91,1547:72
10	18940157	.	C	A	1536.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3740102;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740102" target="_blank">rs3740102</a>;ExAC.Info.AC=48231;ExAC.Info.AN=126658;ExAC.Info.AF=0.381;ExAC.Info.AC_Het=27982;ExAC.Info.AC_Hom=9975;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.40-2583G>T;snpeff.Amino_Acid_length=90;snpeff.Gene_Name=RP11-139J15.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-139J157" target="_blank">RP11-139J157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000606425;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=25;snpeff.Amino_Acid_Change=c.-25G>T;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=NSUN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-139J157" target="_blank">RP11-139J157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377304;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=NSUN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-139J157" target="_blank">RP11-139J157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377304;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377304;SAVANT_GENE=NSUN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN6" target="_blank">NSUN6</a>;SAVANT_INFO=-/106.1kb/11/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-25G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSUN6+c.-25G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18940157">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,204,2369:127	0|1:35,28:63:99:787,0,1128:127	0|0:46,0:46:99:0,138,1767:127
10	18940185	.	G	GT	917.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs140572895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140572895" target="_blank">rs140572895</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.40-2611_40-2612insA;snpeff.Amino_Acid_length=90;snpeff.Gene_Name=RP11-139J15.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-139J157" target="_blank">RP11-139J157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000606425;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=54;snpeff.Amino_Acid_Change=c.-54_-55insA;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=NSUN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-139J157" target="_blank">RP11-139J157</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377304;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000377304;SAVANT_GENE=NSUN6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSUN6" target="_blank">NSUN6</a>;SAVANT_INFO=-/106.1kb/11/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-54dupA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSUN6+c.-54dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18940185">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1148:38	0|1:21,22:43:99:482,0,442:38	0|0:29,2:31:38:0,38,724:38
10	18957647	.	T	G	1851.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10741127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10741127" target="_blank">rs10741127</a>;ExAC.Info.AC=55140;ExAC.Info.AN=126664;ExAC.Info.AF=0.435;ExAC.Info.AC_Het=28499;ExAC.Info.AC_Hom=13133;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.255+41T>G;snpeff.Amino_Acid_length=179;snpeff.Gene_Name=ARL5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL5B" target="_blank">ARL5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377275;SAVANT_GENE=ARL5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL5B" target="_blank">ARL5B</a>;SAVANT_INFO=+/22.2kb/6/7.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.255+41T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARL5B+c.255+41T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:18957647">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1697:127	0|1:34,29:63:99:944,0,989:127	0|0:51,0:51:99:0,153,1903:127
10	19392857	.	T	C	6067.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10159517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10159517" target="_blank">rs10159517</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10159517" target="_blank">rs10159517</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19392857">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,23:40:99:664,0,465:127	0|1:39,20:59:99:528,0,1207:127	1|1:0,44:44:99:1652,132,0:127
10	19392925	.	A	G	1166.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs57243552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57243552" target="_blank">rs57243552</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57243552" target="_blank">rs57243552</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19392925">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2194:127	0|0:78,0:78:99:0,234,2537:127	0|1:22,21:43:99:602,0,695:127
10	19417181	.	T	C	7613.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11008573;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11008573" target="_blank">rs11008573</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11008573" target="_blank">rs11008573</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19417181">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,41:108:99:1039,0,1794:127	1|0:66,62:128:99:1884,0,1942:127	0|0:119,0:119:99:0,357,3818:127
10	19492702	.	C	T	6281.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs16918344;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16918344" target="_blank">rs16918344</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16918344" target="_blank">rs16918344</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19492702">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,40:100:99:932,0,1954:127	1|0:83,59:142:99:1568,0,2710:127	0|0:117,1:118:99:0,317,4069:127
10	19492832	.	A	C	14352.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7476259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7476259" target="_blank">rs7476259</a>;ExAC.Info.AC=18002;ExAC.Info.AN=20410;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=1700;ExAC.Info.AC_Hom=7265;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.31+23A>C;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.31+23A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.31+23A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19492832">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,42:90:99:1183,0,1288:127	1|1:0,126:126:99:4369,379,0:127	0|1:39,38:77:99:1156,0,1103:127
10	19493210	.	G	GT	62.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=83;MQ=70.04;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs71387054;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71387054" target="_blank">rs71387054</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.32-26_32-25insT;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=Insertion;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.32-11dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.32-11dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19493210">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,103,1029:49	0|0:34,1:35:83:0,83,1005:49	0|1:10,4:14:50:50,0,158:49
10	19493215	.	T	TG	2725.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=115;MQ=70.09;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs202203955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202203955" target="_blank">rs202203955</a>;ExAC.Info.AC=1766;ExAC.Info.AN=19072;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=1448;ExAC.Info.AC_Hom=51;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.32-21_32-20insG;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=Insertion;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.32-22_32-21insG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.32-22_32-21insG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19493215">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,23:45:99:663,0,631:66	1|0:21,27:48:99:689,0,606:66	0|0:22,0:22:66:0,66,787:66
10	19493309	.	G	A	5705.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10508578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10508578" target="_blank">rs10508578</a>;ExAC.Info.AC=1156;ExAC.Info.AN=20980;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=983;ExAC.Info.AC_Hom=39;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser35Asn/c.104G>A;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.104G>A_p.Ser35Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.104G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19493309">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,48:102:99:1191,0,1473:127	1|0:57,51:108:99:1352,0,1711:127	0|0:78,0:78:99:0,234,2691:127
10	19493993	.	G	C	9404.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4601653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4601653" target="_blank">rs4601653</a>;ExAC.Info.AC=2208;ExAC.Info.AN=22704;ExAC.Info.AF=0.097;ExAC.Info.AC_Het=1732;ExAC.Info.AC_Hom=155;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Cat;snpeff.Amino_Acid_Change=p.Asp102His/c.304G>C;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.304G>C_p.Asp102His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.304G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19493993">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,76:133:99:2339,0,1698:127	1|0:77,66:143:99:1946,0,2359:127	0|0:110,0:110:99:0,331,4044:127
10	19498278	.	G	A	23744.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=513;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2358355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2358355" target="_blank">rs2358355</a>;ExAC.Info.AC=18894;ExAC.Info.AN=21498;ExAC.Info.AF=0.879;ExAC.Info.AC_Het=1889;ExAC.Info.AC_Hom=7773;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser196Asn/c.587G>A;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.587G>A_p.Ser196Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.587G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19498278">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,94:171:99:2590,0,2216:127	1|1:0,200:200:99:6623,600,0:127	0|1:76,66:142:99:1776,0,2393:127
10	19571940	.	C	T	3096.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11009290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11009290" target="_blank">rs11009290</a>;ExAC.Info.AC=628;ExAC.Info.AN=22164;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=485;ExAC.Info.AC_Hom=16;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1184-8C>T;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1184C>T;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1184-8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.1184-8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19571940">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,268,3991:127	0|1:44,49:93:99:1567,0,1270:127	0|0:119,0:119:99:0,370,6673:127
10	19571941	.	A	G	10881.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2499066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2499066" target="_blank">rs2499066</a>;ExAC.Info.AC=7950;ExAC.Info.AN=21638;ExAC.Info.AF=0.367;ExAC.Info.AC_Het=4067;ExAC.Info.AC_Hom=1455;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1184-7A>G;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1184A>G;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1184-7A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.1184-7A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19571941">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,50:94:99:1387,0,1261:127	1|1:0,96:96:99:3774,289,0:127	0|0:123,0:123:99:0,369,4028:127
10	19572060	.	C	T	3658.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72796460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72796460" target="_blank">rs72796460</a>;ExAC.Info.AC=762;ExAC.Info.AN=23200;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=647;ExAC.Info.AC_Hom=24;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile432Ile/c.1296C>T;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1296C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.1296C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19572060">View</a>	GT:AD:DP:GQ:PL:TP	0|0:132,0:132:99:0,397,4677:127	0|1:71,64:135:99:1848,0,2088:127	0|0:124,0:124:99:0,373,4308:127
10	19613068	.	C	G	5260.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72782366;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72782366" target="_blank">rs72782366</a>;ExAC.Info.AC=127;ExAC.Info.AN=21766;ExAC.Info.AF=5.835e-03;ExAC.Info.AC_Het=112;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1503+34C>G;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1503+34C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.1503+34C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19613068">View</a>	GT:AD:DP:GQ:PL:TP	0|0:102,0:102:99:0,307,3764:127	0|1:54,83:137:99:2649,0,1672:127	0|0:122,0:122:99:0,366,4422:127
10	19620407	.	A	C	12204.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=562;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7100382;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7100382" target="_blank">rs7100382</a>;ExAC.Info.AC=11923;ExAC.Info.AN=21684;ExAC.Info.AF=0.550;ExAC.Info.AC_Het=4575;ExAC.Info.AC_Hom=3128;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gCt;snpeff.Amino_Acid_Change=p.Asp575Ala/c.1724A>C;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1724A>C_p.Asp575Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.1724A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19620407">View</a>	GT:AD:DP:GQ:PL:TP	0|1:73,86:159:99:2521,0,1894:127	1|0:126,90:216:99:2440,0,3460:127	0|0:187,0:187:99:0,562,6269:127
10	19620439	.	A	G	10402.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=481;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7100403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7100403" target="_blank">rs7100403</a>;ExAC.Info.AC=11006;ExAC.Info.AN=21812;ExAC.Info.AF=0.505;ExAC.Info.AC_Het=4577;ExAC.Info.AC_Hom=2634;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile586Val/c.1756A>G;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1756A>G_p.Ile586Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.1756A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19620439">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,67:128:99:1828,0,1592:127	1|0:104,90:194:99:2466,0,2848:127	0|0:159,0:159:99:0,477,5458:127
10	19636869	.	G	T	11751.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1609746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1609746" target="_blank">rs1609746</a>;ExAC.Info.AC=10660;ExAC.Info.AN=21320;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=4433;ExAC.Info.AC_Hom=2534;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaG/aaT;snpeff.Amino_Acid_Change=p.Lys666Asn/c.1998G>T;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1998G>T_p.Lys666Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.1998G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19636869">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,66:137:99:1789,0,2086:127	1|0:101,107:208:99:3077,0,3137:127	0|0:127,0:127:99:0,382,4881:127
10	19641035	.	T	C	8977.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10827306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10827306" target="_blank">rs10827306</a>;ExAC.Info.AC=11480;ExAC.Info.AN=22810;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=4628;ExAC.Info.AC_Hom=2688;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTa/gCa;snpeff.Amino_Acid_Change=p.Val726Ala/c.2177T>C;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2177T>C_p.Val726Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.2177T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19641035">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,50:118:99:1466,0,1816:127	1|0:82,71:153:99:2133,0,2359:127	0|0:138,0:138:99:0,415,4552:127
10	19641231	.	A	G	7858.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7092566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7092566" target="_blank">rs7092566</a>;ExAC.Info.AC=11282;ExAC.Info.AN=20454;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=4295;ExAC.Info.AC_Hom=2653;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2368+5A>G;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2369A>G;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2368+5A>G;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.2368+5A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19641231">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,45:92:99:1312,0,1362:127	1|0:53,64:117:99:1949,0,1516:127	0|0:110,0:110:99:0,330,3788:127
10	19641239	.	CTG	C	24437.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10616221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10616221" target="_blank">rs10616221</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2368+14_2368+15delTG;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=Deletion;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2368+26_2368+27delTG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.2368+26_2368+27delTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19641239">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:3177,235,0:127	1|1:0,92:92:99:3883,280,0:127	1|1:0,78:78:99:2999,236,0:127
10	19676553	.	A	G	24146.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=401;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12773592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12773592" target="_blank">rs12773592</a>;ExAC.Info.AC=2663;ExAC.Info.AN=22188;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=2051;ExAC.Info.AC_Hom=206;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gGt;snpeff.Amino_Acid_Change=p.Asp822Gly/c.2465A>G;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2465A>G_p.Asp822Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.2465A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19676553">View</a>	GT:AD:DP:GQ:PL:TP	1|0:64,55:119:99:2095,0,2496:127	0|1:92,59:151:99:2252,0,3643:127	1|1:0,131:131:99:5913,401,0:127
10	19676561	.	G	A	25442.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12771333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12771333" target="_blank">rs12771333</a>;ExAC.Info.AC=2663;ExAC.Info.AN=22148;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=2044;ExAC.Info.AC_Hom=206;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu825Lys/c.2473G>A;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2473G>A_p.Glu825Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.2473G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19676561">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,56:118:99:2174,0,2489:127	0|1:92,67:159:99:2512,0,3642:127	1|1:0,140:140:99:6216,425,0:127
10	19678286	.	C	T	31342.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=402;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10763974;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10763974" target="_blank">rs10763974</a>;ExAC.Info.AC=17142;ExAC.Info.AN=21346;ExAC.Info.AF=0.803;ExAC.Info.AC_Het=2871;ExAC.Info.AC_Hom=6324;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr930Met/c.2789C>T;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2789C>T_p.Thr930Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.2789C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19678286">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:4135,352,0:127	1|1:0,149:149:99:5392,448,0:127	1|1:0,136:136:99:4925,409,0:127
10	19678497	.	G	A	13051.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10763975;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10763975" target="_blank">rs10763975</a>;ExAC.Info.AC=18006;ExAC.Info.AN=22006;ExAC.Info.AF=0.818;ExAC.Info.AC_Het=2724;ExAC.Info.AC_Hom=6674;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val971Ile/c.2911G>A;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2911G>A_p.Val971Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.2911G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19678497">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1802,159,0:127	1|1:0,52:52:99:1792,156,0:127	1|1:0,60:60:99:2148,180,0:127
10	19739459	.	T	G	9807.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6415957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6415957" target="_blank">rs6415957</a>;ExAC.Info.AC=19733;ExAC.Info.AN=20506;ExAC.Info.AF=0.962;ExAC.Info.AC_Het=483;ExAC.Info.AC_Hom=7760;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2953-38430T>G;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2953-38430T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.2953-38430T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19739459">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1480,117,0:98	1|1:0,43:43:99:1671,129,0:98	1|1:0,33:33:99:1300,99,0:98
10	19777982	.	G	A	9283.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72788548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72788548" target="_blank">rs72788548</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=3010;ExAC.Info.AN=24096;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=1945;ExAC.Info.AC_Hom=246;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly1016Ser/c.3046G>A;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.3046G>A_p.Gly1016Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.3046G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19777982">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,77:134:99:1990,0,1513:127	0|0:127,0:127:99:0,381,4234:127	1|0:57,57:114:99:1476,0,1627:127
10	19780543	.	C	T	25229.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=523;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10827499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10827499" target="_blank">rs10827499</a>;ExAC.Info.AC=6065;ExAC.Info.AN=22180;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=3693;ExAC.Info.AC_Hom=980;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp1088Asp/c.3264C>T;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.3264C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.3264C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19780543">View</a>	GT:AD:DP:GQ:PL:TP	0|1:76,88:164:99:2531,0,2259:127	1|1:0,194:194:99:6714,586,0:127	0|1:79,86:165:99:2436,0,2245:127
10	19884264	.	G	A	4949.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10827628;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10827628" target="_blank">rs10827628</a>;ExAC.Info.AC=9880;ExAC.Info.AN=22738;ExAC.Info.AF=0.435;ExAC.Info.AC_Het=4677;ExAC.Info.AC_Hom=2211;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser1320Asn/c.3959G>A;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.3959G>A_p.Ser1320Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.3959G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19884264">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,30:69:99:715,0,1140:127	1|0:40,41:81:99:1061,0,1177:127	0|0:60,0:60:99:0,179,2179:127
10	19896830	.	C	A	15539.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7909976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7909976" target="_blank">rs7909976</a>;ExAC.Info.AC=17931;ExAC.Info.AN=21140;ExAC.Info.AF=0.848;ExAC.Info.AC_Het=2015;ExAC.Info.AC_Hom=6865;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcA;snpeff.Amino_Acid_Change=p.Ser1402Ser/c.4206C>A;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4206C>A;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.4206C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.4206C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19896830">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1566,141,0:127	1|1:0,78:78:99:2769,234,0:127	1|1:0,55:55:99:2050,165,0:127
10	19904870	.	ATT	A	5959.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10580913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10580913" target="_blank">rs10580913</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4207+8040_4207+8041delTT;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=Deletion;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.4207+8049_4207+8050delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.4207+8049_4207+8050delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19904870">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,26:53:99:990,0,1647:127	1|0:37,35:72:99:1271,0,2289:127	0|0:67,0:67:99:0,201,4571:127
10	19904879	.	T	G	6071.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs62881061;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62881061" target="_blank">rs62881061</a>;ExAC.Info.AC=7848;ExAC.Info.AN=18932;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=3815;ExAC.Info.AC_Hom=1609;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4207+8048T>G;snpeff.Amino_Acid_length=1486;snpeff.Gene_Name=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377266;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000377266;SAVANT_GENE=C10orf112;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf112" target="_blank">C10orf112</a>;SAVANT_INFO=+/530.4kb/25/4.5kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.4207+8048T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf112+c.4207+8048T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:19904879">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,27:54:99:1012,0,1644:127	1|0:38,37:75:99:1311,0,2305:127	0|0:66,0:66:99:0,202,4571:127
10	20357183	.	A	G	3186.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7072650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7072650" target="_blank">rs7072650</a>;ExAC.Info.AC=30018;ExAC.Info.AN=126682;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=21502;ExAC.Info.AC_Hom=4161;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.541+15A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.542A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377252;SAVANT_GENE=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;SAVANT_INFO=+/464.1kb/14/3.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.541+15A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXDC2+c.541+15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:20357183">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,345,3665:127	0|1:63,56:119:99:1612,0,1750:127	0|0:115,0:115:99:0,345,3771:127
10	20436838	.	G	C	8296.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4626974;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4626974" target="_blank">rs4626974</a>;ExAC.Info.AC=42395;ExAC.Info.AN=126692;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=24246;ExAC.Info.AC_Hom=8990;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.783+7G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377252;SAVANT_GENE=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;SAVANT_INFO=+/464.1kb/14/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.783+7G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXDC2+c.783+7G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:20436838">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,38:85:99:1241,0,1497:127	0|0:155,0:155:99:0,466,5566:127	1|0:44,51:95:99:1622,0,1378:127
10	20506326	.	T	C	16153.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs12783379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12783379" target="_blank">rs12783379</a>;ExAC.Info.AC=62512;ExAC.Info.AN=126512;ExAC.Info.AF=0.494;ExAC.Info.AC_Het=28033;ExAC.Info.AC_Hom=15823;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1123-29T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377252;SAVANT_GENE=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;SAVANT_INFO=+/464.1kb/14/3.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1123-29T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXDC2+c.1123-29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:20506326">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,54:100:99:1661,0,1318:127	1|1:0,117:117:99:4381,351,0:127	0|1:42,49:91:99:1426,0,1152:127
10	20506418	.	G	A	25910.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=580;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3817405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3817405" target="_blank">rs3817405</a>;ExAC.Info.AC=77807;ExAC.Info.AN=126700;ExAC.Info.AF=0.614;ExAC.Info.AC_Het=27386;ExAC.Info.AC_Hom=25171;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val396Ile/c.1186G>A;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377252;SAVANT_GENE=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;SAVANT_INFO=+/464.1kb/14/3.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1186G>A_p.Val396Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXDC2+c.1186G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:20506418">View</a>	GT:AD:DP:GQ:PL:TP	0|1:113,89:202:99:2377,0,3035:127	1|1:0,211:211:99:7178,634,0:127	0|1:85,82:167:99:2184,0,2374:127
10	20534333	.	A	G	6514.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2778979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2778979" target="_blank">rs2778979</a>;ExAC.Info.AC=105922;ExAC.Info.AN=126704;ExAC.Info.AF=0.836;ExAC.Info.AC_Het=15330;ExAC.Info.AC_Hom=45278;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1372A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile458Val/c.1372A>G;snpeff.Amino_Acid_length=529;snpeff.Gene_Name=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377252;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377252;SAVANT_GENE=PLXDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLXDC2" target="_blank">PLXDC2</a>;SAVANT_INFO=+/464.1kb/14/3.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1372A>G_p.Ile458Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLXDC2+c.1372A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:20534333">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,20:41:99:552,0,650:127	1|1:0,54:54:99:1961,162,0:127	0|1:22,12:34:99:321,0,634:127
10	20810525	.	T	G	12413.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=740;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs16920624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16920624" target="_blank">rs16920624</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16920624" target="_blank">rs16920624</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:20810525">View</a>	GT:AD:DP:GQ:PL:TP	1|0:114,144:258:99:3885,0,2913:127	0|0:272,0:272:99:0,817,9029:127	1|0:106,104:210:99:2731,0,2845:127
10	21074724	.	T	C	14843.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=506;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2296614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296614" target="_blank">rs2296614</a>;ExAC.Info.AC=9746;ExAC.Info.AN=126696;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=8783;ExAC.Info.AC_Hom=474;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127188|RCV000038702;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2997T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2997T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2997T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr999Thr/c.2997A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377122;SAVANT_GENE=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=-/117.6kb/28/9.2kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.2997A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+c.2997A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21074724">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127188%20OR%20RCV000038702" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:96,65:161:99:1647,0,2699:127	0/1:92,103:195:99:2843,0,2515:127	0/1:80,70:150:99:1959,0,2381:127
10	21076307	.	C	T	9257.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=475;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2296607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296607" target="_blank">rs2296607</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2762-70G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Linker];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2762C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Linker];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2762C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Linker];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2762C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Linker];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2762C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377122;SAVANT_GENE=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=-/117.6kb/28/9.2kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2762-70G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+c.2762-70G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21076307">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,53:119:99:1342,0,1907:127	0|0:208,1:209:99:0,617,6989:127	1|0:81,66:147:99:1789,0,2429:127
10	21108377	.	C	T	3387.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1006363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1006363" target="_blank">rs1006363</a>;ExAC.Info.AC=31661;ExAC.Info.AN=126704;ExAC.Info.AF=0.250;ExAC.Info.AC_Het=22691;ExAC.Info.AC_Hom=4484;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127185|RCV000038694;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[repeat:Nebulin_19];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_19];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031C>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg677Arg/c.2031G>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377122;SAVANT_GENE=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=-/117.6kb/28/9.2kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2031G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+c.2031G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21108377">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127185%20OR%20RCV000038694" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,375,4095:127	0|1:88,67:155:99:1711,0,2582:127	0|0:141,0:141:99:0,423,4852:127
10	21112111	.	A	T	1693.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11012353;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11012353" target="_blank">rs11012353</a>;ExAC.Info.AC=36333;ExAC.Info.AN=126042;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=23071;ExAC.Info.AC_Hom=5026;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1962+26T>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_18];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1963A>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_18];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1963A>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377122;SAVANT_GENE=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=-/117.6kb/28/9.2kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1962+26T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+c.1962+26T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21112111">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,16:36:99:355,0,537:127	0|0:73,0:73:99:0,219,2283:127	1|0:27,24:51:99:560,0,711:127
10	21115332	.	T	C	7427.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1409348;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1409348" target="_blank">rs1409348</a>;ExAC.Info.AC=56708;ExAC.Info.AN=126688;ExAC.Info.AF=0.448;ExAC.Info.AC_Het=29182;ExAC.Info.AC_Hom=13688;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1869+44A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1870T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1870T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377122;SAVANT_GENE=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=-/117.6kb/28/9.2kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1869+44A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+c.1869+44A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21115332">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,54:108:99:1618,0,1520:127	0|0:170,0:170:99:0,511,5914:127	1|0:68,61:129:99:1892,0,2104:127
10	21120116	.	A	G	19821.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1200;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10491056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10491056" target="_blank">rs10491056</a>;ExAC.Info.AC=49071;ExAC.Info.AN=126684;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=28599;ExAC.Info.AC_Hom=10143;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1671+9T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1672A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377122;SAVANT_GENE=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=-/117.6kb/28/9.2kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1671+9T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+c.1671+9T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21120116">View</a>	GT:AD:DP:GQ:PL:TP	1|0:209,157:366:99:4034,0,5588:127	0|0:470,0:470:99:0,1412,16254:127	1|0:185,179:364:99:4678,0,5146:127
10	21141440	.	AG	A	8864.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3831100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3831100" target="_blank">rs3831100</a>;ExAC.Info.AC=32731;ExAC.Info.AN=126686;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=23173;ExAC.Info.AC_Hom=4636;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1008+33delC;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1009delG;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1009delG;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000377122;SAVANT_GENE=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=-/117.6kb/28/9.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1008+33delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+c.1008+33delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21141440">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,70:114:99:2142,0,1206:127	0|0:156,0:156:99:0,469,5487:127	1|0:58,48:106:99:1386,0,1729:127
10	21141469	.	T	C	29725.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs703089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=703089" target="_blank">rs703089</a>;ExAC.Info.AC=123044;ExAC.Info.AN=126698;ExAC.Info.AF=0.971;ExAC.Info.AC_Het=2994;ExAC.Info.AC_Hom=59922;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127177|RCV000038676;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1008+5A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1009T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1009T>C;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1009A>G;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377122;SAVANT_GENE=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=-/117.6kb/28/9.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1008+5A>G;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+c.1008+5A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21141469">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127177%20OR%20RCV000038676" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:3634,332,0:127	1|1:0,159:159:99:5420,477,0:127	1|1:0,114:114:99:3945,341,0:127
10	21148584	.	C	A	12164.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs4748729;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4748729" target="_blank">rs4748729</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.798+58G>T;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799C>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799C>A;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000377122;SAVANT_GENE=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=-/117.6kb/28/9.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.798+58G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+c.798+58G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21148584">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,53:107:99:1380,0,1678:127	1|1:0,99:99:99:3589,298,0:127	0|1:52,45:97:99:1298,0,1687:127
10	21177156	.	GA	G	13617.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs67288319;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67288319" target="_blank">rs67288319</a>;ExAC.Info.AC=75403;ExAC.Info.AN=126330;ExAC.Info.AF=0.597;ExAC.Info.AC_Het=27149;ExAC.Info.AC_Hom=21558;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.259-21delT;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259delA;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259delA;snpeff.Amino_Acid_length=1014;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000377122;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000377122;SAVANT_GENE=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=-/117.6kb/28/9.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.259-21delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+c.259-21delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21177156">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,61:140:99:1469,0,2041:127	1|1:0,133:133:99:4209,400,0:127	0|1:54,48:102:99:1162,0,1378:127
10	21188197	.	T	A	5387.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs788976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=788976" target="_blank">rs788976</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21188197">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,40:89:99:1037,0,1232:127	0|0:110,0:110:99:0,330,3690:127	1|0:44,46:90:99:1252,0,1192:127
10	21414892	.	C	G	44498.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=518;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs625223;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=625223" target="_blank">rs625223</a>;ExAC.Info.AC=51146;ExAC.Info.AN=126704;ExAC.Info.AF=0.404;ExAC.Info.AC_Het=27961;ExAC.Info.AC_Hom=11577;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Cat;snpeff.Amino_Acid_Change=p.Asp110His/c.328G>C;snpeff.Amino_Acid_length=155;snpeff.Gene_Name=C10orf113;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534331;SAVANT_GENE=C10orf113;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf113" target="_blank">C10orf113</a>;SAVANT_INFO=-/20.8kb/2/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.328G>C_p.Asp110His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf113+c.328G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21414892">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,161:161:99:5752,483,0:127	1|1:0,201:201:99:6971,603,0:127	1|1:0,156:156:99:5716,469,0:127
10	21415006	.	T	C	4725.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11591355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11591355" target="_blank">rs11591355</a>;ExAC.Info.AC=19143;ExAC.Info.AN=126698;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=15675;ExAC.Info.AC_Hom=1722;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg72Gly/c.214A>G;snpeff.Amino_Acid_length=155;snpeff.Gene_Name=C10orf113;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534331;SAVANT_GENE=C10orf113;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf113" target="_blank">C10orf113</a>;SAVANT_INFO=-/20.8kb/2/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.214A>G_p.Arg72Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf113+c.214A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21415006">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1984:127	0|1:49,41:90:99:1059,0,1543:127	0|1:41,47:88:99:1323,0,1343:127
10	21415036	.	G	A	2329.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72796574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72796574" target="_blank">rs72796574</a>;ExAC.Info.AC=958;ExAC.Info.AN=126656;ExAC.Info.AF=7.564e-03;ExAC.Info.AC_Het=941;ExAC.Info.AC_Hom=6;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg62Trp/c.184C>T;snpeff.Amino_Acid_length=155;snpeff.Gene_Name=C10orf113;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534331;SAVANT_GENE=C10orf113;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf113" target="_blank">C10orf113</a>;SAVANT_INFO=-/20.8kb/2/0.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.184C>T_p.Arg62Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf113+c.184C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21415036">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,2075:127	0|1:41,42:83:99:1183,0,1209:127	0|0:67,0:67:99:0,201,2373:127
10	21435340	.	ACACT	A	35676.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=630;MQ=70.16;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs72102767;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72102767" target="_blank">rs72102767</a>;ExAC.Info.AC=27181;ExAC.Info.AN=126698;ExAC.Info.AF=0.215;ExAC.Info.AC_Het=20837;ExAC.Info.AC_Hom=3159;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=agtgtt/;snpeff.Amino_Acid_Change=p.Ser32fs/c.94_97delAGTG;snpeff.Amino_Acid_length=155;snpeff.Gene_Name=C10orf113;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534331;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(C10orf113|ENSG00000204683|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000534331;SAVANT_GENE=C10orf113;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf113" target="_blank">C10orf113</a>;SAVANT_INFO=-/20.8kb/2/0.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.94_97delAGTG;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf113+c.94_97delAGTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21435340">View</a>	GT:AD:DP:GQ:PL:TP	1|0:104,96:200:99:3588,0,4019:127	0|1:128,115:243:99:4351,0,4881:127	1|1:0,187:187:99:8295,563,0:127
10	21461410	.	GA	G	2057.3	PASS	InheritancePattern=deNovo;AC=1;AF=0.250;AN=4;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=./0;dbSNP139.ID=rs112496684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112496684" target="_blank">rs112496684</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21461410">View</a>	GT:AD:DP:GQ:PL	0/1:33,6:39:33:33,0,779	./0:30,7:66:99:473,489,1468	./0:32,4:55:99:307,365,1269
10	21461410	.	GA	GAA	2057.3	PASS	InheritancePattern=notInChild;AC=2;AF=0.400;AN=5;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NEBL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEBL" target="_blank">NEBL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEBL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21461410">View</a>	GT:AD:DP:GQ:PL	./0:33,0:39:33:33,147,933	0/1:30,29:66:99:473,0,627	0/1:32,19:55:99:307,0,695
10	21827796	.	G	A	34389.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=566;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Leukemia|_acute_myeloid|_601626_(3)|_Leukemia|_acute_T-cell_lymphoblastic_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1802669;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1802669" target="_blank">rs1802669</a>;ExAC.Info.AC=39418;ExAC.Info.AN=126704;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=25617;ExAC.Info.AC_Hom=6897;snpeff.Effect=sequence_feature[zinc_finger_region:PHD-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.195G>A;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=MLLT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLLT10" target="_blank">MLLT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307729;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:PHD-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.195G>A;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=MLLT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLLT10" target="_blank">MLLT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307729;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro65Pro/c.195G>A;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=MLLT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLLT10" target="_blank">MLLT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307729;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307729;SAVANT_GENE=MLLT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLLT10" target="_blank">MLLT10</a>;SAVANT_INFO=+/209.3kb/23/5.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.195G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MLLT10+c.195G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:21827796">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,181:181:99:5860,543,0:127	1|0:92,102:194:99:2688,0,2466:127	1|1:0,191:191:99:6446,574,0:127
10	22022650	.	G	A	10484.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=465;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41277390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41277390" target="_blank">rs41277390</a>;ExAC.Info.AC=3342;ExAC.Info.AN=126404;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=2990;ExAC.Info.AC_Hom=97;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2497-47G>A;snpeff.Amino_Acid_length=1068;snpeff.Gene_Name=MLLT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLLT10" target="_blank">MLLT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307729;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307729;SAVANT_GENE=MLLT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MLLT10" target="_blank">MLLT10</a>;SAVANT_INFO=+/209.3kb/23/5.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2497-47G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MLLT10+c.2497-47G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:22022650">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,80:149:99:1979,0,1951:127	0|0:148,1:149:99:0,407,5392:127	1|0:70,97:167:99:2709,0,2019:127
10	22048330	.	C	T	2988.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs9045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9045" target="_blank">rs9045</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=19209;ExAC.Info.AN=126704;ExAC.Info.AF=0.152;ExAC.Info.AC_Het=15916;ExAC.Info.AC_Hom=1644;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365C>T;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365C>T;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365C>T;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365C>T;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365C>T;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365C>T;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365C>T;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365C>T;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1365C>T;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala455Ala/c.1365G>A;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376980;SAVANT_GENE=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;SAVANT_INFO=-/247.2kb/12/2.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1365G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC1+c.1365G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:22048330">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2112:127	0|1:45,52:97:99:1513,0,1337:127	0|0:63,0:63:99:0,189,2149:127
10	22292246	.	CCAG	C	47.72	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=271;ExAC.Info.AN=92664;ExAC.Info.AF=2.925e-03;ExAC.Info.AC_Het=263;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.115_117delCAG;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ctg/;snpeff.Amino_Acid_Change=p.Leu39del/c.115_117delCTG;snpeff.Amino_Acid_length=554;snpeff.Gene_Name=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376980;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000376980;SAVANT_GENE=DNAJC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC1" target="_blank">DNAJC1</a>;SAVANT_INFO=-/247.2kb/12/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.115_117delCTG_p.Leu39del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC1+c.115_117delCTG+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:22292246">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,1204:40	0|0:28,1:29:41:0,41,1249:40	0|1:21,3:24:47:47,0,882:40
10	22498209	.	A	G	16594.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2243897;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243897" target="_blank">rs2243897</a>;ExAC.Info.AC=29738;ExAC.Info.AN=121692;ExAC.Info.AF=0.244;ExAC.Info.AC_Het=18604;ExAC.Info.AC_Hom=3464;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met235Thr/c.704T>C;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=EBLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBLN1" target="_blank">EBLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBLN1" target="_blank">EBLN1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBLN1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:22498209">View</a>	GT:AD:DP:GQ:PL:TP	0/1:75,58:133:99:1625,0,2321:127	0/1:79,94:173:99:3006,0,2325:127	0/1:67,76:143:99:2314,0,1997:127
10	22498468	.	C	T	21421.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=628;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs838759;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=838759" target="_blank">rs838759</a>;ExAC.Info.AC=22206;ExAC.Info.AN=117492;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=9500;ExAC.Info.AC_Hom=1340;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly149Arg/c.445G>A;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=EBLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBLN1" target="_blank">EBLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBLN1" target="_blank">EBLN1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBLN1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:22498468">View</a>	GT:AD:DP:GQ:PL:TP	0/1:93,99:192:99:2802,0,2627:127	0/1:107,100:207:99:2957,0,3234:127	0/1:100,129:229:99:3901,0,2900:127
10	22498484	.	C	CAGA	26398.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=586;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3059425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3059425" target="_blank">rs3059425</a>;ExAC.Info.AC=24181;ExAC.Info.AN=114424;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=5671;ExAC.Info.AC_Hom=1052;snpeff.Effect=disruptive_inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ctg/ctTCTg;snpeff.Amino_Acid_Change=p.Leu143_Ile144insLeuLeu/c.428_429insTCT;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=EBLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBLN1" target="_blank">EBLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBLN1" target="_blank">EBLN1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBLN1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:22498484">View</a>	GT:AD:DP:GQ:PL:TP	0/1:86,93:179:99:3613,0,3329:127	0/1:98,90:188:99:3525,0,3823:127	0/1:98,121:219:99:4728,0,3727:127
10	22498749	.	A	T	52376.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=707;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2478476;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2478476" target="_blank">rs2478476</a>;ExAC.Info.AC=48226;ExAC.Info.AN=48300;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=7;ExAC.Info.AC_Hom=6209;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gAc;snpeff.Amino_Acid_Change=p.Val55Asp/c.164T>A;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=EBLN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBLN1" target="_blank">EBLN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000422359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBLN1" target="_blank">EBLN1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBLN1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:22498749">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,202:202:99:6385,606,0:127	1|1:0,276:276:99:8851,829,0:127	1|1:0,229:229:99:7663,688,0:127
10	22826093	.	A	C	8373.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1053454;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1053454" target="_blank">rs1053454</a>;ExAC.Info.AC=81217;ExAC.Info.AN=123910;ExAC.Info.AF=0.655;ExAC.Info.AC_Het=15410;ExAC.Info.AC_Hom=18349;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=37;snpeff.Amino_Acid_Change=c.*37T>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376573;SAVANT_GENE=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;SAVANT_INFO=-/179.7kb/10/3.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*37T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIP4K2A+c.*37T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:22826093">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,40:76:99:1094,0,1078:127	0|0:93,0:93:99:0,279,3166:127	1|1:0,64:64:99:2270,192,0:127
10	22830719	.	G	C	66131.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=829;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs943192;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=943192" target="_blank">rs943192</a>;ExAC.Info.AC=115945;ExAC.Info.AN=123388;ExAC.Info.AF=0.940;ExAC.Info.AC_Het=6058;ExAC.Info.AC_Hom=51302;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1036+14C>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037G>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037G>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037G>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037G>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037G>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037G>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037G>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037G>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037G>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037G>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376573;SAVANT_GENE=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;SAVANT_INFO=-/179.7kb/10/3.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1036+14C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIP4K2A+c.1036+14C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:22830719">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,242:242:99:8590,727,0:127	1|1:0,315:315:99:10979,946,0:127	1|1:0,272:272:99:9554,817,0:127
10	22839628	.	T	C	10930.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230469" target="_blank">rs2230469</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Schizophrenia|_association_with;hgmd_2014.2.OMIM_ID=603140;hgmd_2014.2.PubMed=16801950;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16801950" target="_blank">16801950</a>;ExAC.Info.AC=34280;ExAC.Info.AN=126692;ExAC.Info.AF=0.271;ExAC.Info.AC_Het=23627;ExAC.Info.AC_Hom=5326;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn251Ser/c.752A>G;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376573;SAVANT_GENE=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;SAVANT_INFO=-/179.7kb/10/3.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.752A>G_p.Asn251Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIP4K2A+c.752A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:22839628">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,33:69:99:972,0,994:127	1|1:0,106:106:99:3653,318,0:127	0|0:84,0:84:99:0,252,2878:127
10	22896779	.	C	T	36836.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=498;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2765997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2765997" target="_blank">rs2765997</a>;ExAC.Info.AC=80789;ExAC.Info.AN=125184;ExAC.Info.AF=0.645;ExAC.Info.AC_Het=16941;ExAC.Info.AC_Hom=18219;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.339+77G>A;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PIPK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=406;snpeff.Gene_Name=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376573;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376573;SAVANT_GENE=PIP4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIP4K2A" target="_blank">PIP4K2A</a>;SAVANT_INFO=-/179.7kb/10/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.339+77G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIP4K2A+c.339+77G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:22896779">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:4257,378,0:127	1|1:0,202:202:99:7005,606,0:127	1|1:0,170:170:99:5936,511,0:127
10	23290952	.	C	T	4132.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12259839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12259839" target="_blank">rs12259839</a>;ExAC.Info.AC=6994;ExAC.Info.AN=126702;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=6400;ExAC.Info.AC_Hom=296;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp510Asp/c.1530C>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=ARMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC3" target="_blank">ARMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298032;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298032;SAVANT_GENE=ARMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC3" target="_blank">ARMC3</a>;SAVANT_INFO=+/109.6kb/19/2.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1530C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC3+c.1530C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:23290952">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,22:37:99:603,0,432:110	1|0:21,34:55:99:1082,0,591:110	0|0:37,0:37:99:0,111,1311:110
10	23297301	.	C	T	6764.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11817610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11817610" target="_blank">rs11817610</a>;ExAC.Info.AC=59565;ExAC.Info.AN=117244;ExAC.Info.AF=0.508;ExAC.Info.AC_Het=13449;ExAC.Info.AC_Hom=8539;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn642Asn/c.1926C>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=ARMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC3" target="_blank">ARMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298032;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1926C>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=ARMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC3" target="_blank">ARMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298032;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298032;SAVANT_GENE=ARMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC3" target="_blank">ARMC3</a>;SAVANT_INFO=+/109.6kb/19/2.8kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1926C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC3+c.1926C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:23297301">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,31:58:99:775,0,674:127	0|1:41,34:75:99:890,0,1187:127	1|1:0,52:52:99:1629,156,0:127
10	23297336	.	A	T	5797.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11819616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11819616" target="_blank">rs11819616</a>;ExAC.Info.AC=47740;ExAC.Info.AN=103024;ExAC.Info.AF=0.463;ExAC.Info.AC_Het=8024;ExAC.Info.AC_Hom=5276;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1928+33A>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=ARMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC3" target="_blank">ARMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298032;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298032;SAVANT_GENE=ARMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC3" target="_blank">ARMC3</a>;SAVANT_INFO=+/109.6kb/19/2.8kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1928+33A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC3+c.1928+33A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:23297336">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,24:48:99:714,0,625:108	0|1:30,30:60:99:809,0,775:108	1|1:0,36:36:99:1337,108,0:108
10	23408278	.	C	T	3211.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7427;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7427" target="_blank">rs7427</a>;ExAC.Info.AC=35887;ExAC.Info.AN=125358;ExAC.Info.AF=0.286;ExAC.Info.AC_Het=25072;ExAC.Info.AC_Hom=5398;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser114Ser/c.342C>T;snpeff.Amino_Acid_length=182;snpeff.Gene_Name=MSRB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSRB2" target="_blank">MSRB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376510;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376510;SAVANT_GENE=MSRB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSRB2" target="_blank">MSRB2</a>;SAVANT_INFO=+/26.5kb/5/1.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.342C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSRB2+c.342C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:23408278">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,22:41:99:628,0,526:127	0|0:60,0:60:99:0,180,2183:127	1|0:25,23:48:99:651,0,745:127
10	23482635	.	T	C	13756.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=477;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Diabetes_mellitus|_permanent_neonatal|_with_cerebellar_agenesis|_609069_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7918487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7918487" target="_blank">rs7918487</a>;ExAC.Info.AC=69085;ExAC.Info.AN=126684;ExAC.Info.AF=0.545;ExAC.Info.AC_Het=29409;ExAC.Info.AC_Hom=19743;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118082;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.787T>C;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=PTF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTF1A" target="_blank">PTF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376504;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Ccc;snpeff.Amino_Acid_Change=p.Ser263Pro/c.787T>C;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=PTF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTF1A" target="_blank">PTF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376504;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376504;SAVANT_GENE=PTF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTF1A" target="_blank">PTF1A</a>;SAVANT_INFO=+/1.9kb/2/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.787T>C_p.Ser263Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTF1A+c.787T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:23482635">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118082" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:72,79:151:99:2374,0,1857:127	0/1:103,77:180:99:2265,0,2873:127	0/1:77,69:146:99:2055,0,2134:127
10	23482991	.	AGAT	A	3002.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Diabetes_mellitus|_permanent_neonatal|_with_cerebellar_agenesis|_609069_(3);dbSNP139.ID=rs149560393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149560393" target="_blank">rs149560393</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=157;snpeff.Amino_Acid_Change=c.*157_*159delGAT;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=PTF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTF1A" target="_blank">PTF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376504;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000376504;SAVANT_GENE=PTF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTF1A" target="_blank">PTF1A</a>;SAVANT_INFO=+/1.9kb/2/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*160_*162delGAT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTF1A+c.*160_*162delGAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:23482991">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,23:65:99:812,0,1817:127	0|0:120,0:120:99:0,360,5875:127	1|0:45,23:68:99:831,0,2088:127
10	23528557	.	C	A	852.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7075896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7075896" target="_blank">rs7075896</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66+101G>T;snpeff.Amino_Acid_length=94;snpeff.Gene_Name=C10orf115;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf115" target="_blank">C10orf115</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376501;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399806;SAVANT_GENE=C10orf115;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf115" target="_blank">C10orf115</a>;SAVANT_INFO=-/46.9kb/6/0.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.66+101G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf115+c.66+101G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:23528557">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1790:127	0|1:42,19:61:99:445,0,1250:127	0|0:54,0:54:99:0,162,1973:127
10	23632970	.	T	G	1559.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11013408;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11013408" target="_blank">rs11013408</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.85T>G;snpeff.Gene_Name=RP11-371A19.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-371A192" target="_blank">RP11-371A192</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000443224;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C10orf67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-371A192" target="_blank">RP11-371A192</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323327;SAVANT_GENE=C10orf67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf67" target="_blank">C10orf67</a>;SAVANT_INFO=-/28.1kb/5/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.209+528A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf67+c.209+528A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:23632970">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,4:9:99:137,0,132:127	0/1:5,12:17:99:303,0,139:127	0/1:10,9:19:99:216,0,304:127
10	23633566	.	C	A	2787.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2036917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2036917" target="_blank">rs2036917</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=63773;ExAC.Info.AN=122676;ExAC.Info.AF=0.520;ExAC.Info.AC_Het=16411;ExAC.Info.AC_Hom=10556;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.348C>A;snpeff.Gene_Name=RP11-371A19.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-371A192" target="_blank">RP11-371A192</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000443224;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C10orf67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-371A192" target="_blank">RP11-371A192</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323327;SAVANT_GENE=C10orf67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf67" target="_blank">C10orf67</a>;SAVANT_INFO=-/28.1kb/5/2.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.141G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf67+c.141G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:23633566">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,8:25:99:208,0,515:127	0/1:9,9:18:99:266,0,283:127	0/1:13,21:34:99:631,0,332:127
10	23633741	.	A	C	449.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.523A>C;snpeff.Gene_Name=RP11-371A19.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-371A192" target="_blank">RP11-371A192</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000443224;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C10orf67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-371A192" target="_blank">RP11-371A192</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323327;SAVANT_GENE=C10orf67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf67" target="_blank">C10orf67</a>;SAVANT_INFO=-/28.1kb/5/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-35T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf67+c.-35T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:23633741">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,8:16:74:74,0,129:73	0/1:8,9:17:85:85,0,207:73	0/1:12,7:19:89:89,0,303:73
10	24498289	.	G	GA	2201.21	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=65;MQ=70.04;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs11451939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11451939" target="_blank">rs11451939</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.70+98_70+99insA;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376454;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000376454;SAVANT_GENE=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;SAVANT_INFO=+/338.7kb/21/7.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.70+111dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1217+c.70+111dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:24498289">View</a>	GT:AD:DP:GQ:PL:TP	0|1:4,17:21:43:298,0,43:36	1|1:2,28:30:37:624,37,0:36	0|1:10,4:14:58:58,0,186:36
10	24669877	.	C	G	8517.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=260;MQ=69.96;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|D|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17506606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17506606" target="_blank">rs17506606</a>;ExAC.Info.AC=24759;ExAC.Info.AN=126686;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=18633;ExAC.Info.AC_Hom=3028;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCt/gGt;snpeff.Amino_Acid_Change=p.Ala145Gly/c.434C>G;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376454;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376454;SAVANT_GENE=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;SAVANT_INFO=+/338.7kb/21/7.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.434C>G_p.Ala145Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1217+c.434C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:24669877">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,33:80:99:863,0,1501:127	0/1:57,34:91:99:1003,0,1768:127	0/1:33,56:89:99:1680,0,1020:127
10	24721946	.	A	C	10265.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2274831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274831" target="_blank">rs2274831</a>;ExAC.Info.AC=20900;ExAC.Info.AN=126702;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=17058;ExAC.Info.AC_Hom=1904;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly192Gly/c.576A>C;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376454;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376454;SAVANT_GENE=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;SAVANT_INFO=+/338.7kb/21/7.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.576A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1217+c.576A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:24721946">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1569,123,0:123	1|0:26,37:63:99:1207,0,757:123	1|0:26,29:55:99:947,0,836:123
10	24790393	.	A	G	2038.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1112284;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1112284" target="_blank">rs1112284</a>;ExAC.Info.AC=43920;ExAC.Info.AN=126704;ExAC.Info.AF=0.347;ExAC.Info.AC_Het=27411;ExAC.Info.AC_Hom=8237;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser640Ser/c.1920A>G;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376454;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376454;SAVANT_GENE=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;SAVANT_INFO=+/338.7kb/21/7.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1920A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1217+c.1920A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:24790393">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1747:127	0|0:67,1:68:99:0,166,2361:127	0|1:29,34:63:99:1038,0,771:127
10	24810663	.	C	A	1824.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2297330;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297330" target="_blank">rs2297330</a>;ExAC.Info.AC=24669;ExAC.Info.AN=126620;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=19109;ExAC.Info.AC_Hom=2432;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2309-48C>A;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376454;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376454;SAVANT_GENE=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;SAVANT_INFO=+/338.7kb/21/7.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2309-48C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1217+c.2309-48C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:24810663">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2195:127	0|0:52,0:52:99:0,155,1805:127	0|1:24,30:54:99:931,0,726:127
10	24813454	.	G	A	10180.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10828663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10828663" target="_blank">rs10828663</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=28619;ExAC.Info.AN=126704;ExAC.Info.AF=0.226;ExAC.Info.AC_Het=21557;ExAC.Info.AC_Hom=3507;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcg/Acg;snpeff.Amino_Acid_Change=p.Ala887Thr/c.2659G>A;snpeff.Amino_Acid_length=1943;snpeff.Gene_Name=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376454;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376454;SAVANT_GENE=KIAA1217;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1217" target="_blank">KIAA1217</a>;SAVANT_INFO=+/338.7kb/21/7.4kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2659G>A_p.Ala887Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1217+c.2659G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:24813454">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,30:59:99:731,0,830:127	0|1:30,49:79:99:1410,0,838:127	1|1:0,58:58:99:1982,174,0:127
10	24869101	.	T	C	10488.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10828675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10828675" target="_blank">rs10828675</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10828675" target="_blank">rs10828675</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:24869101">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,63:131:99:1644,0,1764:127	1|0:79,94:173:99:2616,0,2107:127	0|0:115,0:115:99:0,346,3875:127
10	24873369	.	C	G	4608.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=62.88;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1127893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1127893" target="_blank">rs1127893</a>;ExAC.Info.AC=66583;ExAC.Info.AN=126664;ExAC.Info.AF=0.526;ExAC.Info.AC_Het=31023;ExAC.Info.AC_Hom=17638;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aCt;snpeff.Amino_Acid_Change=p.Ser1950Thr/c.5849G>C;snpeff.Amino_Acid_length=1958;snpeff.Gene_Name=ARHGAP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP21" target="_blank">ARHGAP21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396432;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396432;SAVANT_GENE=ARHGAP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP21" target="_blank">ARHGAP21</a>;SAVANT_INFO=-/140.1kb/26/7.2kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.5849G>C_p.Ser1950Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP21+c.5849G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:24873369">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,18:55:99:458,0,1112:127	1|0:29,40:69:99:1239,0,815:127	0|0:60,0:60:99:0,180,2094:127
10	24878129	.	G	A	9071.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7478260;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7478260" target="_blank">rs7478260</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4182+71C>T;snpeff.Amino_Acid_length=1958;snpeff.Gene_Name=ARHGAP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP21" target="_blank">ARHGAP21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396432;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396432;SAVANT_GENE=ARHGAP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP21" target="_blank">ARHGAP21</a>;SAVANT_INFO=-/140.1kb/26/7.2kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.4182+71C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP21+c.4182+71C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:24878129">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,36:73:99:915,0,1017:127	1|1:0,94:94:99:3165,282,0:127	0|0:81,0:81:99:0,243,2914:127
10	24879281	.	A	G	33805.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10734053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10734053" target="_blank">rs10734053</a>;ExAC.Info.AC=13924;ExAC.Info.AN=13924;ExAC.Info.AF=1.00;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=5800;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4150+873T>C;snpeff.Amino_Acid_length=1958;snpeff.Gene_Name=ARHGAP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP21" target="_blank">ARHGAP21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396432;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396432;SAVANT_GENE=ARHGAP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP21" target="_blank">ARHGAP21</a>;SAVANT_INFO=-/140.1kb/26/7.2kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.4150+873T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP21+c.4150+873T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:24879281">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:4476,408,0:127	1|1:0,179:179:99:6152,537,0:127	1|1:0,106:106:99:3586,318,0:127
10	24908686	.	T	C	8928.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=307;MQ=63.86;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748222" target="_blank">rs3748222</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=62997;ExAC.Info.AN=126696;ExAC.Info.AF=0.497;ExAC.Info.AC_Het=31156;ExAC.Info.AC_Hom=15872;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn713Ser/c.2138A>G;snpeff.Amino_Acid_length=1958;snpeff.Gene_Name=ARHGAP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP21" target="_blank">ARHGAP21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396432;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396432;SAVANT_GENE=ARHGAP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP21" target="_blank">ARHGAP21</a>;SAVANT_INFO=-/140.1kb/26/7.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2138A>G_p.Asn713Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP21+c.2138A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:24908686">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,33:64:99:889,0,832:127	1|0:59,79:138:99:2411,0,1527:127	0|0:105,0:105:99:0,315,3559:127
10	25140411	.	G	C	11734.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=301;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1326192;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1326192" target="_blank">rs1326192</a>;ExAC.Info.AC=56867;ExAC.Info.AN=126624;ExAC.Info.AF=0.449;ExAC.Info.AC_Het=30522;ExAC.Info.AC_Hom=12927;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.554-18C>G;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRTFDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRTFDC1" target="_blank">PRTFDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320152;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.554G>C;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRTFDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRTFDC1" target="_blank">PRTFDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320152;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.554G>C;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRTFDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRTFDC1" target="_blank">PRTFDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320152;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320152;SAVANT_GENE=PRTFDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRTFDC1" target="_blank">PRTFDC1</a>;SAVANT_INFO=-/104.0kb/9/1.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.554-18C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRTFDC1+c.554-18C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:25140411">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,45:98:99:1316,0,1415:127	1|1:0,107:107:99:3728,319,0:127	0|0:96,0:96:99:0,287,3318:127
10	25273311	.	G	GA	2795.71	PASS	InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=61;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=0/1;dbSNP139.ID=rs5783912;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5783912" target="_blank">rs5783912</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.765-6_765-7insT;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=ENKUR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENKUR" target="_blank">ENKUR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331161;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000331161;SAVANT_GENE=ENKUR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENKUR" target="_blank">ENKUR</a>;SAVANT_INFO=-/34.2kb/6/3.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.765-7dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENKUR+c.765-7dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:25273311">View</a>	GT:AD:DP:GQ:PL	./1:0,3:10:36:397,171,122	0/1:11,10:25:99:361,0,123	./1:5,13:26:84:528,84,96
10	25273311	.	G	GAA	2795.71	PASS	InheritancePattern=Normal;AC=2;AF=0.667;AN=3;DP=61;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.765-6_765-7insTT;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=ENKUR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENKUR" target="_blank">ENKUR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331161;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000331161;SAVANT_GENE=ENKUR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENKUR" target="_blank">ENKUR</a>;SAVANT_INFO=-/34.2kb/6/3.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.765-8_765-7dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENKUR+c.765-8_765-7dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:25273311">View</a>	GT:AD:DP:GQ:PL	./1:0,7:10:36:397,80,36	./0:11,4:25:99:361,113,367	./1:5,8:26:84:528,178,275
10	25312689	.	A	G	26257.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4748997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4748997" target="_blank">rs4748997</a>;ExAC.Info.AC=40835;ExAC.Info.AN=126696;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=25911;ExAC.Info.AC_Hom=7423;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly179Gly/c.537A>G;snpeff.Amino_Acid_length=743;snpeff.Gene_Name=THNSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THNSL1" target="_blank">THNSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524413;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524413;SAVANT_GENE=THNSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THNSL1" target="_blank">THNSL1</a>;SAVANT_INFO=+/10.0kb/3/3.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.537A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THNSL1+c.537A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:25312689">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:4103,340,0:127	1|0:83,77:160:99:2376,0,2511:127	1|1:1,141:142:99:5128,417,0:127
10	25313818	.	C	T	25626.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7086282;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7086282" target="_blank">rs7086282</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=53276;ExAC.Info.AN=126698;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=29476;ExAC.Info.AC_Hom=11806;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cta/Tta;snpeff.Amino_Acid_Change=p.Leu556Leu/c.1666C>T;snpeff.Amino_Acid_length=743;snpeff.Gene_Name=THNSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THNSL1" target="_blank">THNSL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524413;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524413;SAVANT_GENE=THNSL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=THNSL1" target="_blank">THNSL1</a>;SAVANT_INFO=+/10.0kb/3/3.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1666C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=THNSL1+c.1666C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:25313818">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,151:151:99:5193,454,0:127	1|0:82,72:154:99:2175,0,2553:127	1|1:0,115:115:99:4035,345,0:127
10	25350125	.	G	A	1574.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs55694736;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55694736" target="_blank">rs55694736</a>;ExAC.Info.AC=285;ExAC.Info.AN=21646;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=235;ExAC.Info.AC_Hom=5;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55694736" target="_blank">rs55694736</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:25350125">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,9:19:99:276,0,319:96	1|0:23,10:33:99:283,0,727:96	0|0:32,0:32:96:0,96,1118:96
10	25701341	.	C	G	9951.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2480345;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2480345" target="_blank">rs2480345</a>;ExAC.Info.AC=78779;ExAC.Info.AN=126704;ExAC.Info.AF=0.622;ExAC.Info.AC_Het=26134;ExAC.Info.AC_Hom=26318;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1274C>G;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=GPR158;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR158" target="_blank">GPR158</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376351;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gGc;snpeff.Amino_Acid_Change=p.Ala425Gly/c.1274C>G;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=GPR158;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR158" target="_blank">GPR158</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376351;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376351;SAVANT_GENE=GPR158;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR158" target="_blank">GPR158</a>;SAVANT_INFO=+/427.2kb/11/7.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1274C>G_p.Ala425Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR158+c.1274C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:25701341">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1189,105,0:104	1|0:21,22:43:99:704,0,687:104	1|1:0,55:55:99:2101,165,0:104
10	25888180	.	A	G	6356.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10828833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10828833" target="_blank">rs10828833</a>;ExAC.Info.AC=65124;ExAC.Info.AN=126676;ExAC.Info.AF=0.514;ExAC.Info.AC_Het=28612;ExAC.Info.AC_Hom=17984;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3625A>G;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=GPR158;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR158" target="_blank">GPR158</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376351;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3625A>G;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=GPR158;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR158" target="_blank">GPR158</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376351;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3625A>G;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=GPR158;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR158" target="_blank">GPR158</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376351;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile1209Val/c.3625A>G;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=GPR158;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR158" target="_blank">GPR158</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376351;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376351;SAVANT_GENE=GPR158;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR158" target="_blank">GPR158</a>;SAVANT_INFO=+/427.2kb/11/7.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.3625A>G_p.Ile1209Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR158+c.3625A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:25888180">View</a>	GT:AD:DP:GQ:PL:TP	0|0:130,0:130:99:0,390,4153:127	0|1:76,82:158:99:2358,0,2037:127	0|1:48,32:80:99:840,0,1398:127
10	26310410	.	T	C	19784.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=432;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs3737275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737275" target="_blank">rs3737275</a>;ExAC.Info.AC=63451;ExAC.Info.AN=126700;ExAC.Info.AF=0.501;ExAC.Info.AC_Het=30852;ExAC.Info.AC_Hom=16290;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.586-22T>C;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586T>C;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586T>C;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586T>C;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586T>C;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586T>C;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586T>C;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586T>C;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586T>C;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.586-22T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.586-22T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26310410">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,59:125:99:1614,0,1714:127	0|1:88,71:159:99:1875,0,2452:127	1|1:0,148:148:99:5042,445,0:127
10	26355862	.	G	T	50504.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=527;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs3824702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824702" target="_blank">rs3824702</a>;ExAC.Info.AC=61184;ExAC.Info.AN=126690;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=29819;ExAC.Info.AC_Hom=15144;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.954-42G>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.954-42G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.954-42G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26355862">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,159:159:99:7231,491,0:127	1|1:0,185:185:99:8554,578,0:127	1|1:0,183:183:99:8306,560,0:127
10	26355872	.	A	G	55623.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=594;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs3824701;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824701" target="_blank">rs3824701</a>;ExAC.Info.AC=61183;ExAC.Info.AN=126678;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=29966;ExAC.Info.AC_Hom=15231;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.954-32A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.954-32A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.954-32A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26355872">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,177:177:99:7857,539,0:127	1|1:0,219:219:99:9652,662,0:127	1|1:0,198:198:99:8823,602,0:127
10	26355906	.	G	A	66302.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=926;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3824700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824700" target="_blank">rs3824700</a>;ExAC.Info.AC=61532;ExAC.Info.AN=126704;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=29907;ExAC.Info.AC_Hom=15775;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039050;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.956G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg319His/c.956G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.956G>A_p.Arg319His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.956G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26355906">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039050" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,275:275:99:9331,826,0:127	1|1:0,346:346:99:11781,1040,0:127	1|1:0,305:305:99:10544,916,0:127
10	26355992	.	A	G	86703.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=980;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3824699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824699" target="_blank">rs3824699</a>;ExAC.Info.AC=86067;ExAC.Info.AN=126698;ExAC.Info.AF=0.679;ExAC.Info.AC_Het=27194;ExAC.Info.AC_Hom=29370;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039019;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile348Val/c.1042A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1042A>G_p.Ile348Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.1042A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26355992">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039019" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,304:304:99:12886,924,0:127	1|1:0,377:377:99:15922,1140,0:127	1|1:0,299:299:99:12740,900,0:127
10	26356014	.	C	T	72613.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=750;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs3824698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824698" target="_blank">rs3824698</a>;ExAC.Info.AC=61167;ExAC.Info.AN=126684;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=30047;ExAC.Info.AC_Hom=15183;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039020;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1053+11C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1053+11C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.1053+11C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26356014">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039020" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,235:235:99:10895,737,0:127	1|1:0,289:289:99:13558,912,0:127	1|1:0,226:226:99:10521,710,0:127
10	26356015	.	A	G	71383.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=742;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs3824697;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824697" target="_blank">rs3824697</a>;ExAC.Info.AC=61189;ExAC.Info.AN=126684;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=30050;ExAC.Info.AC_Hom=15181;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039021;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1053+12A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054A>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1053+12A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.1053+12A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26356015">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039021" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,233:233:99:10741,722,0:127	1|1:0,288:288:99:13235,888,0:127	1|1:0,221:221:99:10303,692,0:127
10	26356037	.	C	T	51407.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=557;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs3824696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824696" target="_blank">rs3824696</a>;ExAC.Info.AC=61239;ExAC.Info.AN=126658;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=29558;ExAC.Info.AC_Hom=15187;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1053+34C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1053+34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.1053+34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26356037">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,184:184:99:8271,569,0:127	1|1:0,204:204:99:9364,632,0:127	1|1:0,169:169:99:7640,524,0:127
10	26357747	.	C	T	105063.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1078;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs35379457;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35379457" target="_blank">rs35379457</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=61415;ExAC.Info.AN=126698;ExAC.Info.AF=0.485;ExAC.Info.AC_Het=29955;ExAC.Info.AC_Hom=15628;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039023;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr368Tyr/c.1104C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1104C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.1104C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26357747">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039023" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,325:325:99:14635,988,0:127	1|1:0,414:414:99:18680,1252,0:127	1|1:0,339:339:99:15384,1032,0:127
10	26357748	.	G	A	105063.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1082;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3817420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3817420" target="_blank">rs3817420</a>;ExAC.Info.AC=86223;ExAC.Info.AN=126698;ExAC.Info.AF=0.681;ExAC.Info.AC_Het=27179;ExAC.Info.AC_Hom=29414;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039024;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val369Ile/c.1105G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1105G>A_p.Val369Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.1105G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26357748">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039024" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,325:325:99:14635,988,0:127	1|1:0,415:415:99:18680,1252,0:127	1|1:0,342:342:99:15384,1032,0:127
10	26357820	.	C	T	52093.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=685;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs3817419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3817419" target="_blank">rs3817419</a>;ExAC.Info.AC=61494;ExAC.Info.AN=126698;ExAC.Info.AF=0.485;ExAC.Info.AC_Het=29897;ExAC.Info.AC_Hom=15729;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039025;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1170+7C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1170+7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.1170+7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26357820">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039025" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,196:196:99:7016,589,0:127	1|1:1,265:266:99:9328,763,0:127	1|1:0,223:223:99:8064,670,0:127
10	26359180	.	T	G	63512.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=705;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs3758441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758441" target="_blank">rs3758441</a>;ExAC.Info.AC=61449;ExAC.Info.AN=126672;ExAC.Info.AF=0.485;ExAC.Info.AC_Het=29813;ExAC.Info.AC_Hom=15625;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1275+36T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276T>G;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1275+36T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.1275+36T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26359180">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,207:207:99:9159,638,0:127	1|1:0,264:264:99:11731,815,0:127	1|1:0,234:234:99:10391,716,0:127
10	26359200	.	T	TA	64069.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=729;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs3834403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3834403" target="_blank">rs3834403</a>;ExAC.Info.AC=61441;ExAC.Info.AN=126668;ExAC.Info.AF=0.485;ExAC.Info.AC_Het=29768;ExAC.Info.AC_Hom=15609;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1276-46_1276-45insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1276_1277insA;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1276-45dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.1276-45dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26359200">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,214:214:99:9244,656,0:127	1|1:0,268:268:99:11486,815,0:127	1|1:0,247:247:99:10821,764,0:127
10	26377331	.	C	T	8487.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72787346;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72787346" target="_blank">rs72787346</a>;ExAC.Info.AC=272;ExAC.Info.AN=126702;ExAC.Info.AF=2.147e-03;ExAC.Info.AC_Het=270;ExAC.Info.AC_Hom=1;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039026;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCt/gTt;snpeff.Amino_Acid_Change=p.Ala520Val/c.1559C>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1559C>T_p.Ala520Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.1559C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26377331">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039026" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:62,67:129:99:1789,0,1786:127	0|0:164,0:164:99:0,492,5577:127	1|0:78,75:153:99:2185,0,2191:127
10	26443646	.	G	A	60606.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=815;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs3818956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818956" target="_blank">rs3818956</a>;ExAC.Info.AC=87693;ExAC.Info.AN=126672;ExAC.Info.AF=0.692;ExAC.Info.AC_Het=26339;ExAC.Info.AC_Hom=29919;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2716-29G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.2716-29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.2716-29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26443646">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,260:260:99:8734,781,0:127	1|1:0,313:313:99:10940,940,0:127	1|1:0,242:242:99:8584,730,0:127
10	26446312	.	G	A	87404.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3758449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758449" target="_blank">rs3758449</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=64246;ExAC.Info.AN=126702;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=30617;ExAC.Info.AC_Hom=16805;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039031;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myosin_head-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser956Asn/c.2867G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.2867G>A_p.Ser956Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.2867G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26446312">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039031" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,386:386:99:13596,1161,0:127	1|1:0,411:411:99:14993,1235,0:127	1|1:0,407:407:99:14369,1223,0:127
10	26462790	.	G	A	27031.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbSNP139.ID=rs3740232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740232" target="_blank">rs3740232</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=43538;ExAC.Info.AN=126694;ExAC.Info.AF=0.344;ExAC.Info.AC_Het=28164;ExAC.Info.AC_Hom=7575;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039035;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu1199Glu/c.3597G>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.3597G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.3597G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26462790">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039035" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3463,292,0:127	1|1:0,133:133:99:4954,400,0:127	1|1:0,92:92:99:3423,277,0:127
10	26463043	.	A	T	48910.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=648;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740231" target="_blank">rs3740231</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=52476;ExAC.Info.AN=126702;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=30182;ExAC.Info.AC_Hom=11082;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039036;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Tct;snpeff.Amino_Acid_Change=p.Thr1284Ser/c.3850A>T;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.3850A>T_p.Thr1284Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.3850A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26463043">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039036" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,206:206:99:6772,619,0:127	1|1:0,213:213:99:7348,640,0:127	1|1:0,229:229:99:7824,688,0:127
10	26463130	.	C	A	50457.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=640;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Deafness|_autosomal_recessive_30|_607101_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1999240;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1999240" target="_blank">rs1999240</a>;ExAC.Info.AC=75901;ExAC.Info.AN=126704;ExAC.Info.AF=0.599;ExAC.Info.AC_Het=30261;ExAC.Info.AC_Hom=22808;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039038;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Agt;snpeff.Amino_Acid_Change=p.Arg1313Ser/c.3937C>A;snpeff.Amino_Acid_length=1616;snpeff.Gene_Name=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265944;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265944;SAVANT_GENE=MYO3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYO3A" target="_blank">MYO3A</a>;SAVANT_INFO=+/278.3kb/35/5.6kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.3937C>A_p.Arg1313Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYO3A+c.3937C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26463130">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039038" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,207:207:99:7086,625,0:127	1|1:0,222:222:99:7633,666,0:127	1|1:0,211:211:99:7747,635,0:127
10	26505822	.	G	A	37227.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=452;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2839671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2839671" target="_blank">rs2839671</a>;ExAC.Info.AC=25149;ExAC.Info.AN=126690;ExAC.Info.AF=0.199;ExAC.Info.AC_Het=19697;ExAC.Info.AC_Hom=2657;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.76+8G>A;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=GAD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GAD2" target="_blank">GAD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000259271;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376261;SAVANT_GENE=GAD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GAD2" target="_blank">GAD2</a>;SAVANT_INFO=+/88.3kb/16/5.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.76+8G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GAD2+c.76+8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26505822">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,154:154:99:5067,462,0:127	1|1:0,150:150:99:5390,450,0:127	1|1:0,148:148:99:5027,445,0:127
10	26589625	.	T	A	43981.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=571;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs928197;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=928197" target="_blank">rs928197</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1585-92T>A;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=GAD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GAD2" target="_blank">GAD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000259271;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376261;SAVANT_GENE=GAD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GAD2" target="_blank">GAD2</a>;SAVANT_INFO=+/88.3kb/16/5.9kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1585-92T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GAD2+c.1585-92T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26589625">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:5740,508,0:127	1|1:0,199:199:99:6975,598,0:127	1|1:0,203:203:99:7090,610,0:127
10	26734470	.	C	T	5095.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10764612;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10764612" target="_blank">rs10764612</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1+6688C>T;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376236;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376236;SAVANT_GENE=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;SAVANT_INFO=+/129.6kb/15/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-46786C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1IP+c.-46786C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26734470">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,34:62:99:974,0,862:127	0|0:97,0:97:99:0,292,3534:127	1|0:43,46:89:99:1405,0,1227:127
10	26734485	.	C	T	6084.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10764613;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10764613" target="_blank">rs10764613</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1+6703C>T;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376236;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376236;SAVANT_GENE=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;SAVANT_INFO=+/129.6kb/15/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-46771C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1IP+c.-46771C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26734485">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,43:81:99:1261,0,1203:127	0|0:129,0:129:99:0,387,4525:127	1|0:47,56:103:99:1656,0,1383:127
10	26734517	.	G	A	20763.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=435;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11591540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11591540" target="_blank">rs11591540</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1+6735G>A;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376236;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376236;SAVANT_GENE=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;SAVANT_INFO=+/129.6kb/15/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-46739G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1IP+c.-46739G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26734517">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,63:122:99:2468,0,2288:127	1|1:0,178:178:99:8015,539,0:127	0|0:135,0:135:99:0,415,6116:127
10	26734518	.	C	A	20763.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=435;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11595895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11595895" target="_blank">rs11595895</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1+6736C>A;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376236;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376236;SAVANT_GENE=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;SAVANT_INFO=+/129.6kb/15/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-46738C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1IP+c.-46738C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26734518">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,63:122:99:2468,0,2288:127	1|1:0,178:178:99:8015,539,0:127	0|0:135,0:135:99:0,415,6116:127
10	26734587	.	C	T	3076.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2992257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2992257" target="_blank">rs2992257</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1+6805C>T;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376236;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376236;SAVANT_GENE=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;SAVANT_INFO=+/129.6kb/15/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-46669C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1IP+c.-46669C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26734587">View</a>	GT:AD:DP:GQ:PL:TP	0|0:136,0:136:99:0,408,4413:127	0|0:137,0:137:99:0,412,4820:127	0|1:51,55:106:99:1557,0,1546:127
10	26734618	.	C	A	5443.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10764614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10764614" target="_blank">rs10764614</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1+6836C>A;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376236;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376236;SAVANT_GENE=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;SAVANT_INFO=+/129.6kb/15/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-46638C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1IP+c.-46638C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26734618">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,55:99:99:1513,0,1215:127	0|0:94,0:94:99:0,283,3558:127	1|0:38,44:82:99:1315,0,1228:127
10	26790136	.	T	A	576.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs812007;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=812007" target="_blank">rs812007</a>;ExAC.Info.AC=26358;ExAC.Info.AN=126352;ExAC.Info.AF=0.209;ExAC.Info.AC_Het=20008;ExAC.Info.AC_Hom=2698;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.453+96T>A;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376236;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376236;SAVANT_GENE=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;SAVANT_INFO=+/129.6kb/15/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.453+96T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1IP+c.453+96T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26790136">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1402:92	0|0:31,0:31:93:0,93,1101:92	0|1:15,11:26:99:307,0,438:92
10	26802633	.	AT	A	5981.89	PASS	InheritancePattern=Normal;AC=4;AF=1.00;AN=4;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=1/1;dbSNP139.ID=rs202232214;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202232214" target="_blank">rs202232214</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.813+45delT;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376236;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000376236;SAVANT_GENE=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;SAVANT_INFO=+/129.6kb/15/2.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.813+58delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1IP+c.813+58delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26802633">View</a>	GT:AD:DP:GQ:PL	./1:6,24:46:99:708,223,499	1/1:4,51:55:61:1215,61,0	./1:10,29:55:99:700,156,487
10	26802633	.	AT	ATT	5981.89	PASS	InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./.;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.813+46_813+47insT;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376236;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000376236;SAVANT_GENE=APBB1IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1IP" target="_blank">APBB1IP</a>;SAVANT_INFO=+/129.6kb/15/2.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.813+58dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1IP+c.813+58dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26802633">View</a>	GT:AD:DP:GQ:PL	./1:6,16:46:99:708,468,735	./.:4,0:55:61:1215,1360,1825	./1:10,16:55:99:700,457,843
10	26990849	.	T	G	2947.84	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=47;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs1677726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1677726" target="_blank">rs1677726</a>;ExAC.Info.AC=10373;ExAC.Info.AN=21124;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=1981;ExAC.Info.AC_Hom=1865;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.130-242T>G;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.130-242T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.130-242T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26990849">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,5:5:15:172,15,0:15	1|0:13,9:22:99:268,0,364:15	1|1:0,20:20:60:656,60,0:15
10	26991037	.	A	G	2661.77	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=67;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs1677725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1677725" target="_blank">rs1677725</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.130-54A>G;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.130-54A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.130-54A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26991037">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,8:8:24:360,24,0:23	1|0:41,6:47:99:122,0,3472:23	1|1:0,12:12:36:540,36,0:23
10	26991045	.	T	C	2683.77	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=64;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs1780186;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1780186" target="_blank">rs1780186</a>;ExAC.Info.AC=14183;ExAC.Info.AN=24778;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=2311;ExAC.Info.AC_Hom=3176;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.130-46T>C;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.130-46T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.130-46T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26991045">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,8:8:24:360,24,0:23	1|0:39,5:44:99:131,0,3438:23	1|1:0,12:12:36:540,36,0:23
10	26991067	.	CG	C	2359.73	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs71403882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71403882" target="_blank">rs71403882</a>;ExAC.Info.AC=12571;ExAC.Info.AN=24582;ExAC.Info.AF=0.511;ExAC.Info.AC_Het=2761;ExAC.Info.AC_Hom=2828;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.130-23delG;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.130-23delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.130-23delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26991067">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,8:8:24:355,24,0:23	1|0:33,3:36:27:27,0,3067:23	1|1:0,11:11:33:490,33,0:23
10	26993597	.	AT	A	6479.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=909;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs34296355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34296355" target="_blank">rs34296355</a>;ExAC.Info.AC=38525;ExAC.Info.AN=126648;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=26101;ExAC.Info.AC_Hom=6158;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.163-8delT;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.163delT;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.163-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.163-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26993597">View</a>	GT:AD:DP:GQ:PL:TP	0|0:291,0:291:99:0,875,9810:127	0|0:352,0:352:99:0,1058,11931:127	0|1:147,119:266:99:3263,0,4183:127
10	26993725	.	G	A	9074.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=361;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs1677730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1677730" target="_blank">rs1677730</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.227+55G>A;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.227+55G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.227+55G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26993725">View</a>	GT:AD:DP:GQ:PL:TP	0|0:119,0:119:99:0,361,6299:127	0|1:58,65:123:99:2452,0,2168:127	0|1:60,59:119:99:2105,0,3683:127
10	26993728	.	G	A	5865.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=328;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs6482571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6482571" target="_blank">rs6482571</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.227+58G>A;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.227+58G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.227+58G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26993728">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,63:108:99:1903,0,1330:127	1|0:62,51:113:99:1568,0,2529:127	0|0:107,0:107:99:0,331,4655:127
10	26993737	.	A	T	6916.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=268;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs1780193;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1780193" target="_blank">rs1780193</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.227+67A>T;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.227+67A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.227+67A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26993737">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,0:95:99:0,298,5440:127	0|1:43,47:90:99:1936,0,1815:127	0|1:46,37:83:99:1542,0,3230:127
10	26994150	.	A	C	10236.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=632;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs1780192;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1780192" target="_blank">rs1780192</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.228-65A>C;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.228-65A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.228-65A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26994150">View</a>	GT:AD:DP:GQ:PL:TP	0|0:199,0:199:99:0,598,6231:127	0|1:133,107:240:99:3041,0,3805:127	0|1:117,76:193:99:2097,0,3235:127
10	26994345	.	G	A	4462.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs1748356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1748356" target="_blank">rs1748356</a>;ExAC.Info.AC=67383;ExAC.Info.AN=126600;ExAC.Info.AF=0.532;ExAC.Info.AC_Het=28190;ExAC.Info.AC_Hom=17411;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.336+22G>A;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.336+22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.336+22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26994345">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,253,3164:127	0|1:49,49:98:99:1362,0,1537:127	0|1:35,29:64:99:889,0,1135:127
10	26998739	.	G	C	6858.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=707;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs2368183;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2368183" target="_blank">rs2368183</a>;ExAC.Info.AC=38539;ExAC.Info.AN=126674;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=26152;ExAC.Info.AC_Hom=6151;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.467+42G>C;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.467+42G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.467+42G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:26998739">View</a>	GT:AD:DP:GQ:PL:TP	0|0:202,0:202:99:0,607,7255:127	0|0:283,0:283:99:0,850,10017:127	0|1:104,118:222:99:3448,0,3063:127
10	27009334	.	A	G	19373.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs1780196;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1780196" target="_blank">rs1780196</a>;ExAC.Info.AC=111341;ExAC.Info.AN=126684;ExAC.Info.AF=0.879;ExAC.Info.AC_Het=13197;ExAC.Info.AC_Hom=48536;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.609+46A>G;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.609+46A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.609+46A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27009334">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2426,213,0:127	1|1:0,91:91:99:3037,273,0:127	1|1:0,89:89:99:3153,267,0:127
10	27035478	.	C	T	10191.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=654;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs12776877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12776877" target="_blank">rs12776877</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=76;snpeff.Amino_Acid_Change=c.*76C>T;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000376215;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376215;SAVANT_GENE=PDSS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDSS1" target="_blank">PDSS1</a>;SAVANT_INFO=+/49.1kb/12/1.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*76C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDSS1+c.*76C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27035478">View</a>	GT:AD:DP:GQ:PL:TP	1|0:107,101:208:99:2680,0,3060:127	0|0:253,0:253:99:0,759,8952:127	1|0:92,101:193:99:2763,0,2689:127
10	27065976	.	G	A	8453.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Coenzyme_Q10_deficiency|_primary|_2|_614651_(3)|Coenzyme_Q10_deficiency|_primary|_2|_614651_(3);dbSNP139.ID=rs7096584;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7096584" target="_blank">rs7096584</a>;ExAC.Info.AC=24564;ExAC.Info.AN=126648;ExAC.Info.AF=0.194;ExAC.Info.AC_Het=18940;ExAC.Info.AC_Hom=2710;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.462+18C>T;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=ABI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABI1" target="_blank">ABI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355394;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376142;SAVANT_GENE=ABI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABI1" target="_blank">ABI1</a>;SAVANT_INFO=-/114.3kb/12/3.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.462+18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABI1+c.462+18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27065976">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,50:89:99:1238,0,1150:127	0/1:48,56:104:99:1464,0,1414:127	0/1:36,39:75:99:1079,0,1063:127
10	27294449	.	CAT	C	14970.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=623;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs3215884;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215884" target="_blank">rs3215884</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*68_*69delAT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.*68_*69delAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27294449">View</a>	GT:AD:DP:GQ:PL:TP	0|1:94,95:189:99:3527,0,3861:127	1|0:134,109:243:99:4166,0,5444:127	0|0:191,0:191:99:0,575,8873:127
10	27303605	.	A	T	13601.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=690;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2274741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274741" target="_blank">rs2274741</a>;ExAC.Info.AC=27720;ExAC.Info.AN=125232;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=19822;ExAC.Info.AC_Hom=3853;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttT/ttA;snpeff.Amino_Acid_Change=p.Phe1530Leu/c.4590T>A;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4542T>A_p.Phe1514Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.4542T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27303605">View</a>	GT:AD:DP:GQ:PL:TP	0|1:111,102:213:99:2640,0,2991:127	1|0:100,129:229:99:3777,0,2725:127	0|0:248,0:248:99:0,745,8280:127
10	27317778	.	T	C	17078.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=910;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs72807627;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72807627" target="_blank">rs72807627</a>;ExAC.Info.AC=13982;ExAC.Info.AN=125240;ExAC.Info.AF=0.112;ExAC.Info.AC_Het=11913;ExAC.Info.AC_Hom=993;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4020+3A>G;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4021A>G;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3972+3A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.3972+3A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27317778">View</a>	GT:AD:DP:GQ:PL:TP	0|1:147,115:262:99:3270,0,4070:127	1|0:188,145:333:99:4300,0,5384:127	0|0:315,0:315:99:0,947,10669:127
10	27317840	.	C	T	15625.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=980;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10829163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10829163" target="_blank">rs10829163</a>;ExAC.Info.AC=27698;ExAC.Info.AN=125148;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=19889;ExAC.Info.AC_Hom=3806;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val1321Ile/c.3961G>A;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3913G>A_p.Val1305Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.3913G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27317840">View</a>	GT:AD:DP:GQ:PL:TP	0|1:161,133:294:99:3402,0,4524:127	1|0:203,151:354:99:3985,0,5789:127	0|0:331,1:332:99:0,986,10992:127
10	27322372	.	TTA	T	4017.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs72515848;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72515848" target="_blank">rs72515848</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3703-68_3703-67delTA;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.3655-68_3655-67delTA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.3655-68_3655-67delTA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27322372">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,32:72:99:1169,0,2014:127	1|0:36,32:68:99:1232,0,1752:127	0|0:57,0:57:99:0,171,2810:127
10	27326999	.	T	C	21350.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs7096505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7096505" target="_blank">rs7096505</a>;ExAC.Info.AC=104667;ExAC.Info.AN=125040;ExAC.Info.AF=0.837;ExAC.Info.AC_Het=16155;ExAC.Info.AC_Hom=43278;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2424-16A>G;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2376-16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.2376-16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27326999">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:3091,264,0:127	1|1:0,109:109:99:3982,328,0:127	1|1:0,90:90:99:3203,270,0:127
10	27329167	.	G	A	4526.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs10829167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10829167" target="_blank">rs10829167</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2210-60C>T;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2162-60C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.2162-60C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27329167">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,49:97:99:1211,0,1498:127	1|0:51,41:92:99:1122,0,1445:127	0|0:69,0:69:99:0,207,2532:127
10	27333121	.	TA	T	48.85	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs113123391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113123391" target="_blank">rs113123391</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2034-3delT;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2034delT;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1986-3delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.1986-3delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27333121">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,7:101:99:0,108,2284:42	0|0:129,13:142:89:0,89,3036:42	0|1:109,15:124:42:42,0,2533:42
10	27368126	.	A	C	13722.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs3737055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737055" target="_blank">rs3737055</a>;ExAC.Info.AC=70376;ExAC.Info.AN=125232;ExAC.Info.AF=0.562;ExAC.Info.AC_Het=28324;ExAC.Info.AC_Hom=20790;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.888-36T>G;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.741-36T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.741-36T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27368126">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,45:86:99:1321,0,1104:127	0|1:39,54:93:99:1590,0,1032:127	1|1:0,97:97:99:3634,292,0:127
10	27371623	.	G	A	12442.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs10829173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10829173" target="_blank">rs10829173</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.740+109C>T;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.740+109C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.740+109C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27371623">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,60:132:99:1526,0,1932:127	0|1:63,70:133:99:1938,0,1653:127	1|1:0,82:82:99:2664,246,0:127
10	27371647	.	T	C	12520.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs10829174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10829174" target="_blank">rs10829174</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.740+85A>G;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.740+85A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.740+85A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27371647">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,69:145:99:1860,0,2056:127	0|1:68,69:137:99:1965,0,1913:127	1|1:0,75:75:99:2584,225,0:127
10	27375377	.	A	T	35164.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=498;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs10443987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10443987" target="_blank">rs10443987</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.709+91T>A;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.709+91T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.709+91T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27375377">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,151:151:99:4992,454,0:127	1|1:0,164:164:99:5761,493,0:127	1|1:0,183:183:99:6551,550,0:127
10	27375559	.	C	T	7755.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=447;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs66853312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66853312" target="_blank">rs66853312</a>;ExAC.Info.AC=17886;ExAC.Info.AN=125006;ExAC.Info.AF=0.143;ExAC.Info.AC_Het=14788;ExAC.Info.AC_Hom=1483;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.639-21G>A;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.639-21G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.639-21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27375559">View</a>	GT:AD:DP:GQ:PL:TP	0|1:69,64:133:99:1753,0,2325:127	1|0:82,77:159:99:2186,0,2729:127	0|0:155,0:155:99:0,466,6105:127
10	27381349	.	T	C	7119.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs2297145;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297145" target="_blank">rs2297145</a>;ExAC.Info.AC=30402;ExAC.Info.AN=125224;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=21245;ExAC.Info.AC_Hom=4370;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val208Val/c.624A>G;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.624A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.624A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27381349">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,54:115:99:1680,0,1796:127	1|0:92,62:154:99:1764,0,2760:127	0|0:118,0:118:99:0,355,4302:127
10	27382236	.	C	T	10703.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=605;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs2297146;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297146" target="_blank">rs2297146</a>;ExAC.Info.AC=17248;ExAC.Info.AN=125650;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=11574;ExAC.Info.AC_Hom=1184;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.531+42G>A;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.531+42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.531+42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27382236">View</a>	GT:AD:DP:GQ:PL:TP	0|1:91,88:179:99:2431,0,3575:127	1|0:119,94:213:99:2664,0,4901:127	0|0:213,0:213:99:0,653,9557:127
10	27382240	.	T	C	29216.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=623;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs2297147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297147" target="_blank">rs2297147</a>;ExAC.Info.AC=69433;ExAC.Info.AN=125440;ExAC.Info.AF=0.554;ExAC.Info.AC_Het=23536;ExAC.Info.AC_Hom=17251;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.531+38A>G;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.531+38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.531+38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27382240">View</a>	GT:AD:DP:GQ:PL:TP	1|0:93,93:186:99:2823,0,3591:127	0|1:98,126:224:99:3825,0,3693:127	1|1:0,213:213:99:7870,640,0:127
10	27382586	.	G	C	18233.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=971;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs2297150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297150" target="_blank">rs2297150</a>;ExAC.Info.AC=18112;ExAC.Info.AN=126066;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=14977;ExAC.Info.AC_Hom=1529;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.357+28C>G;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.357+28C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.357+28C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27382586">View</a>	GT:AD:DP:GQ:PL:TP	0|1:160,133:293:99:3996,0,4785:127	1|0:203,147:350:99:4355,0,6594:127	0|0:328,0:328:99:0,986,12183:127
10	27389197	.	T	C	11506.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7897309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7897309" target="_blank">rs7897309</a>;ExAC.Info.AC=111287;ExAC.Info.AN=124116;ExAC.Info.AF=0.897;ExAC.Info.AC_Het=10775;ExAC.Info.AC_Hom=48731;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln20Arg/c.59A>G;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.59A>G_p.Gln20Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.59A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27389197">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1165,99,0:96	1|1:0,61:61:99:2281,184,0:96	1|1:0,32:32:96:1208,96,0:96
10	27389314	.	C	T	5010.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Thrombocytopenia_2|_188000_(3);dbSNP139.ID=rs3737056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737056" target="_blank">rs3737056</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=59;snpeff.Amino_Acid_Change=c.-59G>A;snpeff.Amino_Acid_length=1726;snpeff.Gene_Name=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000376087;SAVANT_GENE=ANKRD26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD26" target="_blank">ANKRD26</a>;SAVANT_INFO=-/96.2kb/34/6.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-59G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD26+c.-59G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27389314">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,26:51:99:628,0,708:127	1|0:29,44:73:99:1256,0,855:127	0|0:45,0:45:99:0,135,1628:127
10	27400861	.	G	A	15335.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs9833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9833" target="_blank">rs9833</a>;ExAC.Info.AC=108053;ExAC.Info.AN=126700;ExAC.Info.AF=0.853;ExAC.Info.AC_Het=15366;ExAC.Info.AC_Hom=46320;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=45;snpeff.Amino_Acid_Change=c.*45C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326799;SAVANT_GENE=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;SAVANT_INFO=-/43.9kb/20/4.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*45C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YME1L1+c.*45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27400861">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:1949,183,0:127	1|1:0,87:87:99:2882,261,0:127	1|1:0,63:63:99:2164,189,0:127
10	27401056	.	C	T	9846.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=533;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11015538;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11015538" target="_blank">rs11015538</a>;ExAC.Info.AC=32101;ExAC.Info.AN=126690;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=22319;ExAC.Info.AC_Hom=4852;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2179-7G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2179C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326799;SAVANT_GENE=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;SAVANT_INFO=-/43.9kb/20/4.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2179-7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YME1L1+c.2179-7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27401056">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,96:166:99:2392,0,2039:127	1|0:110,93:203:99:2406,0,3227:127	0|0:163,1:164:99:0,455,5717:127
10	27405096	.	A	G	4773.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2297152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297152" target="_blank">rs2297152</a>;ExAC.Info.AC=32117;ExAC.Info.AN=126692;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=22327;ExAC.Info.AC_Hom=4884;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2018-34T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2018A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326799;SAVANT_GENE=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;SAVANT_INFO=-/43.9kb/20/4.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2018-34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YME1L1+c.2018-34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27405096">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,37:83:99:951,0,1365:127	1|0:55,45:100:99:1199,0,1563:127	0|0:98,1:99:99:0,261,3338:127
10	27409555	.	G	A	32198.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10829190;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10829190" target="_blank">rs10829190</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1470-79C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1470G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326799;SAVANT_GENE=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;SAVANT_INFO=-/43.9kb/20/4.0kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1470-79C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YME1L1+c.1470-79C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27409555">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,151:151:99:4842,454,0:127	1|1:0,155:155:99:5191,465,0:127	1|1:0,130:130:99:4343,390,0:127
10	27423744	.	T	C	5639.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2275752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275752" target="_blank">rs2275752</a>;ExAC.Info.AC=27338;ExAC.Info.AN=126658;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=20680;ExAC.Info.AC_Hom=3316;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.862+16A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.863T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.863T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.863T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.863T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.863T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.863T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.863T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.863T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326799;SAVANT_GENE=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;SAVANT_INFO=-/43.9kb/20/4.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.862+16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YME1L1+c.862+16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27423744">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,38:80:99:1002,0,1154:127	1|0:47,42:89:99:989,0,1347:127	0|0:91,0:91:99:0,273,2821:127
10	27434483	.	G	A	6099.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2274634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274634" target="_blank">rs2274634</a>;ExAC.Info.AC=32194;ExAC.Info.AN=126698;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=22348;ExAC.Info.AC_Hom=4903;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.376G>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cta/Tta;snpeff.Amino_Acid_Change=p.Leu126Leu/c.376C>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326799;SAVANT_GENE=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;SAVANT_INFO=-/43.9kb/20/4.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.376C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YME1L1+c.376C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27434483">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,45:72:99:1221,0,747:127	1|0:57,50:107:99:1450,0,1791:127	0|0:85,0:85:99:0,256,3101:127
10	27437964	.	T	C	7892.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11538750;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11538750" target="_blank">rs11538750</a>;ExAC.Info.AC=13476;ExAC.Info.AN=126698;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=11463;ExAC.Info.AC_Hom=999;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr13Thr/c.39A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326799;SAVANT_GENE=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;SAVANT_INFO=-/43.9kb/20/4.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.39A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YME1L1+c.39A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27437964">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,54:126:99:1518,0,2099:127	1|0:97,69:166:99:1852,0,2920:127	0|0:126,0:126:99:0,378,4645:127
10	27442121	.	A	G	4962.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs57671772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57671772" target="_blank">rs57671772</a>;ExAC.Info.AC=2179;ExAC.Info.AN=21306;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=1768;ExAC.Info.AC_Hom=152;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.33+986T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326799;SAVANT_GENE=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;SAVANT_INFO=-/43.9kb/20/4.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.33+986T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YME1L1+c.33+986T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27442121">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,31:65:99:811,0,865:127	1|0:49,38:87:99:1135,0,1284:127	0|0:64,0:64:99:0,192,2160:127
10	27443012	.	A	G	3447.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2274636;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274636" target="_blank">rs2274636</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.33+95T>C;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>G;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326799;SAVANT_GENE=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;SAVANT_INFO=-/43.9kb/20/4.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.33+95T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YME1L1+c.33+95T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27443012">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,24:52:99:670,0,722:116	1|0:22,17:39:99:498,0,632:116	0|0:39,0:39:99:0,117,1320:116
10	27443083	.	A	T	3808.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2274637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274637" target="_blank">rs2274637</a>;ExAC.Info.AC=11075;ExAC.Info.AN=124932;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=6036;ExAC.Info.AC_Hom=503;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.33+24T>A;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_matrix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.34A>T;snpeff.Amino_Acid_length=773;snpeff.Gene_Name=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326799;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326799;SAVANT_GENE=YME1L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YME1L1" target="_blank">YME1L1</a>;SAVANT_INFO=-/43.9kb/20/4.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.33+24T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YME1L1+c.33+24T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27443083">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,31:63:99:830,0,812:127	1|0:30,23:53:99:606,0,836:127	0|0:61,0:61:99:0,183,2010:127
10	27444329	.	T	C	6335.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Thrombocytopenia-2|_188000_(3);dbSNP139.ID=rs7907981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7907981" target="_blank">rs7907981</a>;ExAC.Info.AC=94012;ExAC.Info.AN=121448;ExAC.Info.AF=0.774;ExAC.Info.AC_Het=11121;ExAC.Info.AC_Hom=22191;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=27;snpeff.Amino_Acid_Change=c.-27T>C;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375940;SAVANT_GENE=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;SAVANT_INFO=+/31.6kb/12/3.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-27T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASTL+c.-27T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27444329">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,13:13:39:555,39,0:50	1|1:0,27:27:81:1165,81,0:50	1|1:0,17:17:51:765,51,0:50
10	27444344	.	T	G	7738.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Thrombocytopenia-2|_188000_(3);dbSNP139.ID=rs7907988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7907988" target="_blank">rs7907988</a>;ExAC.Info.AC=104537;ExAC.Info.AN=125088;ExAC.Info.AF=0.836;ExAC.Info.AC_Het=12307;ExAC.Info.AC_Hom=35154;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.-12T>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375940;SAVANT_GENE=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;SAVANT_INFO=+/31.6kb/12/3.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASTL+c.-12T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27444344">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:942,75,0:65	1|1:0,36:36:99:1321,108,0:65	1|1:0,22:22:66:911,66,0:65
10	27454111	.	A	T	31292.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=737;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Thrombocytopenia-2|_188000_(3);dbSNP139.ID=rs7068375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7068375" target="_blank">rs7068375</a>;ExAC.Info.AC=74952;ExAC.Info.AN=126702;ExAC.Info.AF=0.592;ExAC.Info.AC_Het=29541;ExAC.Info.AC_Hom=22576;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.660+12A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.661A>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375940;SAVANT_GENE=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;SAVANT_INFO=+/31.6kb/12/3.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.660+12A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASTL+c.660+12A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27454111">View</a>	GT:AD:DP:GQ:PL:TP	1|0:115,112:227:99:3218,0,3012:127	0|1:139,153:292:99:4205,0,3938:127	1|1:0,218:218:99:7506,653,0:127
10	27456003	.	G	A	17158.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Thrombocytopenia-2|_188000_(3);dbSNP139.ID=rs788238;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=788238" target="_blank">rs788238</a>;ExAC.Info.AC=126444;ExAC.Info.AN=126704;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=250;ExAC.Info.AC_Hom=63059;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.812-28G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375940;SAVANT_GENE=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;SAVANT_INFO=+/31.6kb/12/3.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.812-28G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASTL+c.812-28G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27456003">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2261,210,0:127	1|1:0,64:64:99:2226,192,0:127	1|1:0,89:89:99:3019,267,0:127
10	27459670	.	C	T	37694.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=956;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Thrombocytopenia-2|_188000_(3);dbSNP139.ID=rs1981296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1981296" target="_blank">rs1981296</a>;ExAC.Info.AC=74861;ExAC.Info.AN=126678;ExAC.Info.AF=0.591;ExAC.Info.AC_Het=29419;ExAC.Info.AC_Hom=22455;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile594Ile/c.1782C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375940;SAVANT_GENE=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;SAVANT_INFO=+/31.6kb/12/3.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1782C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASTL+c.1782C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27459670">View</a>	GT:AD:DP:GQ:PL:TP	1|0:161,160:321:99:4067,0,4703:127	0|1:173,159:332:99:4215,0,5225:127	1|1:0,303:303:99:10377,911,0:127
10	27475444	.	T	C	39817.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=1010;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Thrombocytopenia-2|_188000_(3);dbSNP139.ID=rs10741130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10741130" target="_blank">rs10741130</a>;ExAC.Info.AC=75790;ExAC.Info.AN=126704;ExAC.Info.AF=0.598;ExAC.Info.AC_Het=29399;ExAC.Info.AC_Hom=23194;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2619T>C;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr873Thr/c.2619T>C;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375940;SAVANT_GENE=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;SAVANT_INFO=+/31.6kb/12/3.1kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2619T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASTL+c.2619T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27475444">View</a>	GT:AD:DP:GQ:PL:TP	1|0:165,156:321:99:4331,0,4927:127	0|1:206,173:379:99:4868,0,6216:127	1|1:0,310:310:99:10362,931,0:127
10	27475494	.	T	C	34875.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=881;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Thrombocytopenia-2|_188000_(3);dbSNP139.ID=rs10764686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10764686" target="_blank">rs10764686</a>;ExAC.Info.AC=70978;ExAC.Info.AN=126704;ExAC.Info.AF=0.560;ExAC.Info.AC_Het=28743;ExAC.Info.AC_Hom=21105;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=29;snpeff.Amino_Acid_Change=c.*29T>C;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375940;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375940;SAVANT_GENE=MASTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MASTL" target="_blank">MASTL</a>;SAVANT_INFO=+/31.6kb/12/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*29T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MASTL+c.*29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27475494">View</a>	GT:AD:DP:GQ:PL:TP	1|0:136,149:285:99:4068,0,4064:127	0|1:183,143:326:99:4078,0,5594:127	1|1:0,270:270:99:9285,811,0:127
10	27508758	.	T	C	15876.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs10764690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10764690" target="_blank">rs10764690</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=57108;ExAC.Info.AN=126698;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=29485;ExAC.Info.AC_Hom=13799;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro182Pro/c.546A>G;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375888;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396271;SAVANT_GENE=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;SAVANT_INFO=-/45.6kb/13/3.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.519A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACBD5+c.519A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27508758">View</a>	GT:AD:DP:GQ:PL:TP	1|0:105,74:179:99:1900,0,3060:127	0|0:203,0:203:99:0,610,6977:127	1|1:0,144:144:99:4743,433,0:127
10	27523967	.	G	A	2475.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs534226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=534226" target="_blank">rs534226</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.296+54C>T;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375888;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297G>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375888;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297G>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375888;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297G>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375888;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297G>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375888;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297G>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375888;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ACB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297G>A;snpeff.Amino_Acid_length=534;snpeff.Gene_Name=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375888;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396271;SAVANT_GENE=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;SAVANT_INFO=-/45.6kb/13/3.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.302+54C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACBD5+c.302+54C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27523967">View</a>	GT:AD:DP:GQ:PL:TP	0|1:7,18:25:99:533,0,205:127	1|0:23,21:44:99:662,0,832:127	0|0:51,0:51:99:0,153,2101:127
10	27529549	.	C	A	26141.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=537;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2797078;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2797078" target="_blank">rs2797078</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0079.2:SP1];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396271;SAVANT_GENE=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;SAVANT_INFO=-/45.6kb/13/3.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.15+54G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACBD5+c.15+54G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27529549">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,85:155:99:2527,0,1958:127	0|1:98,130:228:99:3841,0,2709:127	1|1:0,154:154:99:5354,462,0:127
10	27529565	.	T	C	58117.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=608;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2489372;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2489372" target="_blank">rs2489372</a>;ExAC.Info.AC=33214;ExAC.Info.AN=34754;ExAC.Info.AF=0.956;ExAC.Info.AC_Het=798;ExAC.Info.AC_Hom=10871;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396271;SAVANT_GENE=ACBD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACBD5" target="_blank">ACBD5</a>;SAVANT_INFO=-/45.6kb/13/3.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.15+38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACBD5+c.15+38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27529565">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,178:178:99:6909,543,0:127	1|1:0,263:263:99:10097,797,0:127	1|1:0,167:167:99:7293,512,0:127
10	27577568	.	G	A	6240.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=195;MQ=67.17;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2780686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2780686" target="_blank">rs2780686</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.560-38G>A;snpeff.Gene_Name=ARMC4P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4P1" target="_blank">ARMC4P1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438905;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4P1" target="_blank">ARMC4P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC4P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27577568">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,26:59:99:614,0,1076:127	1|1:0,65:65:99:2130,195,0:127	0|0:71,0:71:99:0,213,2559:127
10	27577615	.	T	G	1296.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=226;MQ=65.56;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11015640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11015640" target="_blank">rs11015640</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.569T>G;snpeff.Gene_Name=ARMC4P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4P1" target="_blank">ARMC4P1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438905;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4P1" target="_blank">ARMC4P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC4P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27577615">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2295:127	0|1:49,29:78:99:667,0,1308:127	0|0:75,0:75:99:0,225,2554:127
10	27577640	.	G	T	1516.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=195;MQ=63.69;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3818746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818746" target="_blank">rs3818746</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.594G>T;snpeff.Gene_Name=ARMC4P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4P1" target="_blank">ARMC4P1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000438905;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4P1" target="_blank">ARMC4P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC4P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27577640">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2160:127	0|1:37,29:66:99:777,0,1114:127	0|0:64,0:64:99:0,192,2306:127
10	27687017	.	A	G	2634.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11015739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11015739" target="_blank">rs11015739</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11015739" target="_blank">rs11015739</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27687017">View</a>	GT:AD:DP:GQ:PL:TP	0|0:144,0:144:99:0,433,7243:127	0|0:153,0:153:99:0,467,10162:127	0|1:56,45:101:99:1336,0,1478:127
10	27687031	.	A	G	12334.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs676321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=676321" target="_blank">rs676321</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=676321" target="_blank">rs676321</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27687031">View</a>	GT:AD:DP:GQ:PL:TP	1|0:88,65:153:99:1680,0,2480:127	0|0:166,0:166:99:0,499,5868:127	1|1:0,111:111:99:4281,337,0:127
10	27687225	.	A	G	22530.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=744;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs2505323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2505323" target="_blank">rs2505323</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.OMIM_ID=611791;hgmd_2014.2.PubMed=21984973;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21984973" target="_blank">21984973</a>;ExAC.Info.AC=77889;ExAC.Info.AN=126414;ExAC.Info.AF=0.616;ExAC.Info.AC_Het=26622;ExAC.Info.AC_Hom=23517;snpeff.Effect=stop_lost;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Taa/Caa;snpeff.Amino_Acid_Change=p.Ter768Glnext*?/c.2302T>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.2302T>C_p.X768GlnextX?;SAVANT_EFFECT=STOP_LOSS;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SL;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.2302T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27687225">View</a>	GT:AD:DP:GQ:PL:TP	1|0:103,118:221:99:3410,0,2744:127	0|0:316,0:316:99:0,949,10659:127	1|1:0,207:207:99:7547,622,0:127
10	27687775	.	T	C	53380.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=657;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1638630;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1638630" target="_blank">rs1638630</a>;ExAC.Info.AC=122966;ExAC.Info.AN=126692;ExAC.Info.AF=0.971;ExAC.Info.AC_Het=3560;ExAC.Info.AC_Hom=59650;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atA/atG;snpeff.Amino_Acid_Change=p.Ile584Met/c.1752A>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1752A>G_p.Ile584Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.1752A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27687775">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,186:186:99:6805,559,0:127	1|1:0,252:252:99:9093,757,0:127	1|1:0,219:219:99:7912,658,0:127
10	27687965	.	A	G	20499.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=618;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2505327;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2505327" target="_blank">rs2505327</a>;ExAC.Info.AC=78452;ExAC.Info.AN=126680;ExAC.Info.AF=0.619;ExAC.Info.AC_Het=27846;ExAC.Info.AC_Hom=25283;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1562A>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1562A>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1562A>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1562A>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met521Thr/c.1562T>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1562T>C_p.Met521Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.1562T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27687965">View</a>	GT:AD:DP:GQ:PL:TP	1|0:103,70:173:99:2007,0,3256:127	0|0:248,0:248:99:0,746,8798:127	1|1:0,197:197:99:6920,592,0:127
10	27687994	.	A	G	20431.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=647;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2484173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2484173" target="_blank">rs2484173</a>;ExAC.Info.AC=78447;ExAC.Info.AN=126696;ExAC.Info.AF=0.619;ExAC.Info.AC_Het=27832;ExAC.Info.AC_Hom=25269;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1533A>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1533A>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1533A>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser511Ser/c.1533T>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1533T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.1533T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27687994">View</a>	GT:AD:DP:GQ:PL:TP	1|0:119,73:192:99:1876,0,3643:127	0|0:248,1:249:99:0,712,8886:127	1|1:0,206:206:99:7230,619,0:127
10	27688109	.	T	C	24419.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=710;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2429485;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2429485" target="_blank">rs2429485</a>;ExAC.Info.AC=78401;ExAC.Info.AN=126696;ExAC.Info.AF=0.619;ExAC.Info.AC_Het=27749;ExAC.Info.AC_Hom=25130;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1418T>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gGt;snpeff.Amino_Acid_Change=p.Asp473Gly/c.1418A>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1418A>G_p.Asp473Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.1418A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27688109">View</a>	GT:AD:DP:GQ:PL:TP	1|0:135,104:239:99:2779,0,3652:127	0|0:238,1:239:99:0,683,8073:127	1|1:0,232:232:99:8383,698,0:127
10	27688188	.	AG	A	321.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs368432311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=368432311" target="_blank">rs368432311</a>;ExAC.Info.AC=11210;ExAC.Info.AN=59762;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=3865;ExAC.Info.AC_Hom=1505;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1358-20delC;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1358delG;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1358delG;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1358delG;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1358delG;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1358delG;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1358-20delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.1358-20delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27688188">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,3:84:99:0,188,2597:127	0|0:100,0:100:99:0,300,3795:127	0|1:33,16:49:99:184,0,593:127
10	27688189	.	G	A	836.63	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2484174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2484174" target="_blank">rs2484174</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1358-20C>T;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1358G>A;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1358G>A;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1358G>A;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1358G>A;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1358G>A;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1358-20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.1358-20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27688189">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,18:84:99:100,0,2098:99	0|0:96,4:100:99:0,245,3663:99	1|0:23,26:49:99:388,0,452:99
10	27692279	.	A	C	7797.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2484180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2484180" target="_blank">rs2484180</a>;ExAC.Info.AC=50426;ExAC.Info.AN=126694;ExAC.Info.AF=0.398;ExAC.Info.AC_Het=31557;ExAC.Info.AC_Hom=10243;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1219A>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1219A>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SSD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1219A>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Ggc;snpeff.Amino_Acid_Change=p.Cys407Gly/c.1219T>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1219T>G_p.Cys407Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.1219T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27692279">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,68:130:99:1712,0,1798:127	0|0:160,1:161:99:0,473,5447:127	1|0:61,57:118:99:1485,0,1818:127
10	27700887	.	G	A	12902.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=488;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2429499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2429499" target="_blank">rs2429499</a>;ExAC.Info.AC=93915;ExAC.Info.AN=126682;ExAC.Info.AF=0.741;ExAC.Info.AC_Het=22828;ExAC.Info.AC_Hom=34988;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1090-29C>T;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.1090-29C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.1090-29C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27700887">View</a>	GT:AD:DP:GQ:PL:TP	1|0:91,67:158:99:1653,0,2665:127	0|0:190,0:190:99:0,571,6961:127	1|1:1,139:140:99:4643,411,0:127
10	27702042	.	T	TA	7343.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=830;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=32241;ExAC.Info.AN=126546;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=21431;ExAC.Info.AC_Hom=4773;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1089+49_1089+48insT;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.1089+48_1089+49insT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.1089+48_1089+49insT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27702042">View</a>	GT:AD:DP:GQ:PL:TP	0|0:301,1:302:99:0,873,12056:127	0|0:299,0:299:99:0,900,12034:127	0|1:121,108:229:99:3695,0,4191:127
10	27702169	.	C	T	31939.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=913;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6482625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6482625" target="_blank">rs6482625</a>;ExAC.Info.AC=26335;ExAC.Info.AN=126702;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=19809;ExAC.Info.AC_Hom=3259;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val337Val/c.1011G>A;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1011G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.1011G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27702169">View</a>	GT:AD:DP:GQ:PL:TP	0|1:154,148:302:99:3873,0,4662:127	1|1:0,326:326:99:11151,980,0:127	0|0:285,0:285:99:0,855,9963:127
10	27702256	.	G	GC	9747.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=508;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs112067123;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112067123" target="_blank">rs112067123</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.OMIM_ID=611791;hgmd_2014.2.PubMed=21439084;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21439084" target="_blank">21439084</a>;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923_924insC;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=ggc/ggGc;snpeff.Amino_Acid_Change=p.Gly308_Ser309fs/c.923_924insG;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(PTCHD3|ENSG00000182077|1|1.00);TYPE=Insertion;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.923dupG;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.923dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27702256">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,71:147:99:1791,0,1923:127	0|0:211,1:212:99:0,607,6535:127	1|0:74,75:149:99:1875,0,1857:127
10	27702688	.	C	T	15820.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7087552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7087552" target="_blank">rs7087552</a>;ExAC.Info.AC=26326;ExAC.Info.AN=126702;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=19771;ExAC.Info.AC_Hom=3253;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu164Glu/c.492G>A;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.492G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.492G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27702688">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,60:119:99:1792,0,1778:127	1|1:0,141:141:99:5035,424,0:127	0|0:104,0:104:99:0,313,3799:127
10	27702725	.	A	G	14228.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6482626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6482626" target="_blank">rs6482626</a>;ExAC.Info.AC=26268;ExAC.Info.AN=126694;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=19699;ExAC.Info.AC_Hom=3226;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.455A>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu152Pro/c.455T>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.455T>C_p.Leu152Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.455T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27702725">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,61:107:99:1686,0,1347:127	1|1:0,126:126:99:4396,379,0:127	0|0:127,0:127:99:0,381,4907:127
10	27702726	.	G	A	3304.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11015753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11015753" target="_blank">rs11015753</a>;ExAC.Info.AC=32745;ExAC.Info.AN=126688;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=22492;ExAC.Info.AC_Hom=5085;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>A;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu152Leu/c.454C>T;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.454C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.454C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27702726">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,322,4460:127	0|0:125,0:125:99:0,379,5667:127	0|1:70,58:128:99:1671,0,2007:127
10	27702744	.	A	G	3024.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11015754;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11015754" target="_blank">rs11015754</a>;ExAC.Info.AC=20558;ExAC.Info.AN=126688;ExAC.Info.AF=0.162;ExAC.Info.AC_Het=16346;ExAC.Info.AC_Hom=2041;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.436A>G;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu146Leu/c.436T>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.436T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.436T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27702744">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,319,3757:127	0|0:139,0:139:99:0,417,4847:127	0|1:69,54:123:99:1531,0,1973:127
10	27703234	.	A	G	14816.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7071851;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7071851" target="_blank">rs7071851</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=55;snpeff.Amino_Acid_Change=c.-55T>C;snpeff.Amino_Acid_length=767;snpeff.Gene_Name=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438700;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438700;SAVANT_GENE=PTCHD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3" target="_blank">PTCHD3</a>;SAVANT_INFO=-/16.2kb/4/2.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-55T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTCHD3+c.-55T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27703234">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,52:88:99:1486,0,970:127	1|1:0,95:95:99:3439,285,0:127	0|1:26,55:81:99:1621,0,658:127
10	27822619	.	TTC	T	17873.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=419;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Warburg_micro_syndrome_3|_614222_(3);dbSNP139.ID=rs72264716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72264716" target="_blank">rs72264716</a>;ExAC.Info.AC=53462;ExAC.Info.AN=126604;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=29240;ExAC.Info.AC_Hom=11804;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.596-44_596-43delTC;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=RAB18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB18" target="_blank">RAB18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423465;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=Deletion;SAVANT_ENST=ENST00000356940;SAVANT_GENE=RAB18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB18" target="_blank">RAB18</a>;SAVANT_INFO=+/35.9kb/7/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.260-43_260-42delCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAB18+c.260-43_260-42delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27822619">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,67:124:99:2601,0,2271:127	0|0:150,0:150:99:0,450,6868:127	1|1:0,145:145:99:6443,437,0:127
10	27964470	.	G	A	7825.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2253230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2253230" target="_blank">rs2253230</a>;ExAC.Info.AC=40661;ExAC.Info.AN=126702;ExAC.Info.AF=0.321;ExAC.Info.AC_Het=27090;ExAC.Info.AC_Hom=6685;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn284Asn/c.852C>T;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=MKX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKX" target="_blank">MKX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375790;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375790;SAVANT_GENE=MKX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKX" target="_blank">MKX</a>;SAVANT_INFO=-/73.2kb/7/3.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.852C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKX+c.852C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:27964470">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,55:115:99:1502,0,1647:127	1|0:74,67:141:99:1824,0,2210:127	0|0:120,0:120:99:0,361,4321:127
10	28032136	.	C	T	2482.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2252651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2252651" target="_blank">rs2252651</a>;ExAC.Info.AC=85645;ExAC.Info.AN=123566;ExAC.Info.AF=0.693;ExAC.Info.AC_Het=18463;ExAC.Info.AC_Hom=25032;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.188+21G>A;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=MKX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKX" target="_blank">MKX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375790;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375790;SAVANT_GENE=MKX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKX" target="_blank">MKX</a>;SAVANT_INFO=-/73.2kb/7/3.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.188+21G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKX+c.188+21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28032136">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,8:23:99:164,0,422:127	0/1:9,16:25:99:403,0,226:127	0/1:9,12:21:99:346,0,237:127
10	28142245	.	A	G	151.97	PASS	InheritancePattern=unknown;AC=3;AF=0.750;AN=4;DP=4;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=./.;NA12891_GT=1|0;dbSNP139.ID=rs7898085;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7898085" target="_blank">rs7898085</a>;ExAC.Info.AC=7516;ExAC.Info.AN=12954;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=2161;ExAC.Info.AC_Hom=1734;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3021+7309T>C;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3022A>G;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3022A>G;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305242;SAVANT_GENE=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;SAVANT_INFO=-/186.9kb/20/3.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.3021+7309T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC4+c.3021+7309T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28142245">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,2:2:6:77,6,0:5	1|0:1,1:2:27:35,0,27:5	./.
10	28225897	.	G	T	5338.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2297646;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297646" target="_blank">rs2297646</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2098-88C>A;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2098G>T;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2098G>T;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2098G>T;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2098G>T;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305242;SAVANT_GENE=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;SAVANT_INFO=-/186.9kb/20/3.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2098-88C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC4+c.2098-88C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28225897">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,26:52:99:723,0,725:127	0/1:26,37:63:99:1067,0,815:127	0/1:27,24:51:99:706,0,835:127
10	28228865	.	A	G	11703.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7893462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7893462" target="_blank">rs7893462</a>;ExAC.Info.AC=67870;ExAC.Info.AN=126692;ExAC.Info.AF=0.536;ExAC.Info.AC_Het=30939;ExAC.Info.AC_Hom=18408;snpeff.Effect=sequence_feature[repeat:ARM_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2058A>G;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2058A>G;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2058A>G;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2058A>G;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn686Asn/c.2058T>C;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305242;SAVANT_GENE=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;SAVANT_INFO=-/186.9kb/20/3.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2058T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC4+c.2058T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28228865">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,73:116:99:2084,0,1117:127	0/1:75,60:135:99:1657,0,2296:127	0/1:69,60:129:99:1758,0,2081:127
10	28233931	.	G	A	11211.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs34717952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34717952" target="_blank">rs34717952</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1387-40C>T;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305242;SAVANT_GENE=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;SAVANT_INFO=-/186.9kb/20/3.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1387-40C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC4+c.1387-40C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28233931">View</a>	GT:AD:DP:GQ:PL:TP	0/1:64,54:118:99:1302,0,1911:127	0/1:92,67:159:99:1655,0,2660:127	0/1:62,58:120:99:1479,0,1869:127
10	28233933	.	A	G	11606.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs34084011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34084011" target="_blank">rs34084011</a>;ExAC.Info.AC=68972;ExAC.Info.AN=126658;ExAC.Info.AF=0.545;ExAC.Info.AC_Het=30850;ExAC.Info.AC_Hom=18853;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1387-42T>C;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305242;SAVANT_GENE=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;SAVANT_INFO=-/186.9kb/20/3.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1387-42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC4+c.1387-42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28233933">View</a>	GT:AD:DP:GQ:PL:TP	0/1:61,53:114:99:1373,0,1741:127	0/1:86,65:151:99:1710,0,2435:127	0/1:64,55:119:99:1404,0,1833:127
10	28257852	.	C	T	95.63	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=13;MQ=40.28;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199740026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199740026" target="_blank">rs199740026</a>;ExAC.Info.AC=4620;ExAC.Info.AN=80694;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=1056;ExAC.Info.AC_Hom=81;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1238G>A;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg413Gln/c.1238G>A;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305242;SAVANT_GENE=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;SAVANT_INFO=-/186.9kb/20/3.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1238G>A_p.Arg413Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC4+c.1238G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28257852">View</a>	GT:AD:DP:GQ:PL:TP	0|0:4,0:4:12:0,12,147:6	0|0:7,0:7:21:0,21,251:6	0|1:0,2:2:1:70,6,0:6
10	28276273	.	G	A	11953.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3808909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3808909" target="_blank">rs3808909</a>;ExAC.Info.AC=27509;ExAC.Info.AN=126660;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=20754;ExAC.Info.AC_Hom=3124;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.382+42C>T;snpeff.Amino_Acid_length=1044;snpeff.Gene_Name=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305242;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305242;SAVANT_GENE=ARMC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMC4" target="_blank">ARMC4</a>;SAVANT_INFO=-/186.9kb/20/3.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.382+42C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMC4+c.382+42C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28276273">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,54:105:99:1483,0,1560:127	0/1:76,71:147:99:2097,0,2252:127	0/1:56,47:103:99:1351,0,1751:127
10	28345370	.	G	A	5385.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs118187581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=118187581" target="_blank">rs118187581</a>;ExAC.Info.AC=11613;ExAC.Info.AN=126702;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=10275;ExAC.Info.AC_Hom=668;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1551+39C>T;snpeff.Amino_Acid_length=576;snpeff.Gene_Name=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375732;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337532;SAVANT_GENE=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;SAVANT_INFO=-/229.2kb/18/5.1kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1551+39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MPP7+c.1551+39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28345370">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,33:66:99:840,0,994:127	1|0:33,44:77:99:1325,0,977:127	0|0:45,0:45:99:0,135,1668:127
10	28346584	.	G	A	2355.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=50;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12217744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12217744" target="_blank">rs12217744</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1407+840C>T;snpeff.Amino_Acid_length=576;snpeff.Gene_Name=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375732;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337532;SAVANT_GENE=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;SAVANT_INFO=-/229.2kb/18/5.1kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1407+840C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MPP7+c.1407+840C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28346584">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:459,36,0:36	1|0:9,9:18:99:268,0,311:36	1|0:11,9:20:99:292,0,368:36
10	28346629	.	A	AGT	6277.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs76671899;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76671899" target="_blank">rs76671899</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1407+795_1407+794insAC;snpeff.Amino_Acid_length=576;snpeff.Gene_Name=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375732;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000337532;SAVANT_GENE=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;SAVANT_INFO=-/229.2kb/18/5.1kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1407+793_1407+794dupAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MPP7+c.1407+793_1407+794dupAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28346629">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:1062,72,0:72	1|0:17,17:34:99:737,0,643:72	1|0:15,22:37:99:879,0,570:72
10	28358659	.	C	T	3600.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7919895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7919895" target="_blank">rs7919895</a>;ExAC.Info.AC=41072;ExAC.Info.AN=126460;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=18826;ExAC.Info.AC_Hom=9428;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1204+42G>A;snpeff.Amino_Acid_length=576;snpeff.Gene_Name=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375732;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337532;SAVANT_GENE=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;SAVANT_INFO=-/229.2kb/18/5.1kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1204+42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MPP7+c.1204+42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28358659">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,39:74:99:993,0,1047:127	0|0:91,0:91:99:0,273,3209:127	1|0:21,24:45:99:709,0,591:127
10	28408538	.	C	T	4471.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10047289;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10047289" target="_blank">rs10047289</a>;ExAC.Info.AC=32022;ExAC.Info.AN=126682;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=19407;ExAC.Info.AC_Hom=6247;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.952+42G>A;snpeff.Amino_Acid_length=576;snpeff.Gene_Name=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375732;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337532;SAVANT_GENE=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;SAVANT_INFO=-/229.2kb/18/5.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.952+42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MPP7+c.952+42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28408538">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,36:67:99:977,0,922:127	0|0:91,0:91:99:0,274,3469:127	1|0:19,35:54:99:1104,0,551:127
10	28409614	.	C	G	10701.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=494;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7903192;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7903192" target="_blank">rs7903192</a>;ExAC.Info.AC=33029;ExAC.Info.AN=126634;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=21694;ExAC.Info.AC_Hom=6429;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.616-17G>C;snpeff.Amino_Acid_length=576;snpeff.Gene_Name=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375732;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337532;SAVANT_GENE=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;SAVANT_INFO=-/229.2kb/18/5.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.616-17G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MPP7+c.616-17G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28409614">View</a>	GT:AD:DP:GQ:PL:TP	1|0:89,85:174:99:2476,0,2691:127	0|0:177,0:177:99:0,532,6574:127	1|0:81,62:143:99:1937,0,2549:127
10	28436534	.	A	G	11226.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=558;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11006897;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11006897" target="_blank">rs11006897</a>;ExAC.Info.AC=26220;ExAC.Info.AN=126690;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=20190;ExAC.Info.AC_Hom=2949;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.235-42T>C;snpeff.Amino_Acid_length=576;snpeff.Gene_Name=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375732;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337532;SAVANT_GENE=MPP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MPP7" target="_blank">MPP7</a>;SAVANT_INFO=-/229.2kb/18/5.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.235-42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MPP7+c.235-42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28436534">View</a>	GT:AD:DP:GQ:PL:TP	0|0:180,0:180:99:0,541,6178:127	0|1:96,107:203:99:3446,0,2829:127	0|1:97,78:175:99:2187,0,2945:127
10	28872481	.	CAA	CA	1356.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=19867;ExAC.Info.AN=121088;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=40625;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.381+49delA;snpeff.Amino_Acid_length=647;snpeff.Gene_Name=WAC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAC" target="_blank">WAC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354911;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000354911;SAVANT_GENE=WAC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAC" target="_blank">WAC</a>;SAVANT_INFO=+/87.1kb/14/3.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.381+63delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=WAC+c.381+63delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28872481">View</a>	GT:AD:DP:GQ:PL	0/1:18,5:26:39:78,0,319	0/1:25,14:41:99:242,0,468	0/1:19,12:35:99:228,0,328
10	28970487	.	C	T	1962.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs56281747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56281747" target="_blank">rs56281747</a>;ExAC.Info.AC=21225;ExAC.Info.AN=126682;ExAC.Info.AF=0.168;ExAC.Info.AC_Het=16296;ExAC.Info.AC_Hom=2444;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.364+13C>T;snpeff.Amino_Acid_length=260;snpeff.Gene_Name=BAMBI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAMBI" target="_blank">BAMBI</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375533;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365C>T;snpeff.Amino_Acid_length=260;snpeff.Gene_Name=BAMBI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAMBI" target="_blank">BAMBI</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375533;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365C>T;snpeff.Amino_Acid_length=260;snpeff.Gene_Name=BAMBI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAMBI" target="_blank">BAMBI</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375533;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365C>T;snpeff.Amino_Acid_length=260;snpeff.Gene_Name=BAMBI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAMBI" target="_blank">BAMBI</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375533;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375533;SAVANT_GENE=BAMBI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAMBI" target="_blank">BAMBI</a>;SAVANT_INFO=+/5.6kb/3/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.364+13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BAMBI+c.364+13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28970487">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2459:127	0|0:88,0:88:99:0,264,2946:127	0|1:45,36:81:99:1000,0,1188:127
10	28971169	.	G	A	2424.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72809669;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72809669" target="_blank">rs72809669</a>;ExAC.Info.AC=1015;ExAC.Info.AN=126704;ExAC.Info.AF=8.011e-03;ExAC.Info.AC_Het=997;ExAC.Info.AC_Hom=9;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622G>A;snpeff.Amino_Acid_length=260;snpeff.Gene_Name=BAMBI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAMBI" target="_blank">BAMBI</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375533;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val208Ile/c.622G>A;snpeff.Amino_Acid_length=260;snpeff.Gene_Name=BAMBI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAMBI" target="_blank">BAMBI</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375533;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375533;SAVANT_GENE=BAMBI;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAMBI" target="_blank">BAMBI</a>;SAVANT_INFO=+/5.6kb/3/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.622G>A_p.Val208Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BAMBI+c.622G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:28971169">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,249,2888:127	0|0:112,0:112:99:0,336,3928:127	0|1:33,43:76:99:1231,0,998:127
10	29136129	.	A	G	28159.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs813935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=813935" target="_blank">rs813935</a>;ExAC.Info.AC=13596;ExAC.Info.AN=13738;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=35;ExAC.Info.AC_Hom=5730;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=41;snpeff.Amino_Acid_Change=c.-41A>G;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=C10orf126;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf126" target="_blank">C10orf126</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375520;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375520;SAVANT_GENE=C10orf126;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf126" target="_blank">C10orf126</a>;SAVANT_INFO=+/35.5kb/5/2.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-41A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf126+c.-41A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29136129">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3138,287,0:127	1|1:0,136:136:99:4715,408,0:127	1|1:0,116:116:99:3889,348,0:127
10	29578084	.	A	G	702.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=229;MQ=65.95;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17851935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17851935" target="_blank">rs17851935</a>;ExAC.Info.AC=82005;ExAC.Info.AN=126684;ExAC.Info.AF=0.647;ExAC.Info.AC_Het=27961;ExAC.Info.AC_Hom=26316;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys13Arg/c.38A>G;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375500;SAVANT_GENE=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;SAVANT_INFO=+/22.2kb/5/0.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.38A>G_p.Lys13Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYZL1+c.38A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29578084">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2188:127	0|0:116,0:116:99:0,349,3963:127	0|1:35,16:51:99:370,0,1088:127
10	29578180	.	A	ATGAAGCCAACTGTCTC	2611.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=338;MQ=69.78;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=1073;ExAC.Info.AN=76462;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=59;ExAC.Info.AC_Hom=17;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.113+22_113+23insTGAAGCCAACTGTCTC;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000375500;SAVANT_GENE=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;SAVANT_INFO=+/22.2kb/5/0.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.113+24_113+25insAGCCAACTGTCTCTGA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYZL1+c.113+24_113+25insAGCCAACTGTCTCTGA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29578180">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,330,4950:127	0|0:145,0:145:99:0,440,6703:127	0|1:60,24:84:99:1329,0,2417:127
10	29580743	.	G	A	3238.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=67;MQ=65.06;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2148902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2148902" target="_blank">rs2148902</a>;ExAC.Info.AC=86024;ExAC.Info.AN=124804;ExAC.Info.AF=0.689;ExAC.Info.AC_Het=25064;ExAC.Info.AC_Hom=26882;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.114-29G>A;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375500;SAVANT_GENE=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;SAVANT_INFO=+/22.2kb/5/0.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.114-29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYZL1+c.114-29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29580743">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,9:22:99:319,0,833:60	1|1:0,19:19:60:866,60,0:60	0|1:16,10:26:99:372,0,998:60
10	29581440	.	C	T	13768.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=533;MQ=69.56;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3818550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818550" target="_blank">rs3818550</a>;ExAC.Info.AC=51676;ExAC.Info.AN=126684;ExAC.Info.AF=0.408;ExAC.Info.AC_Het=29747;ExAC.Info.AC_Hom=10907;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.278-8C>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.278C>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.278C>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.278C>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.278C>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.278C>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375500;SAVANT_GENE=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;SAVANT_INFO=+/22.2kb/5/0.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.278-8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYZL1+c.278-8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29581440">View</a>	GT:AD:DP:GQ:PL:TP	0|1:96,81:177:99:2178,0,2852:127	1|0:84,96:180:99:2702,0,2494:127	0|0:176,0:176:99:0,528,6041:127
10	29581493	.	A	C	3144.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=538;MQ=68.88;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3818551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818551" target="_blank">rs3818551</a>;ExAC.Info.AC=30568;ExAC.Info.AN=126700;ExAC.Info.AF=0.241;ExAC.Info.AC_Het=22619;ExAC.Info.AC_Hom=3963;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323A>C;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323A>C;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323A>C;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323A>C;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cCg;snpeff.Amino_Acid_Change=p.Gln108Pro/c.323A>C;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375500;SAVANT_GENE=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;SAVANT_INFO=+/22.2kb/5/0.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.323A>C_p.Gln108Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYZL1+c.323A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29581493">View</a>	GT:AD:DP:GQ:PL:TP	0|0:180,0:180:99:0,539,6016:127	0|0:198,0:198:99:0,595,7043:127	0|1:95,65:160:99:1591,0,2783:127
10	29581527	.	C	T	4340.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=463;MQ=68.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11007514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11007514" target="_blank">rs11007514</a>;ExAC.Info.AC=9707;ExAC.Info.AN=126704;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=8737;ExAC.Info.AC_Hom=484;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357C>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly119Gly/c.357C>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375500;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375500;SAVANT_GENE=LYZL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL1" target="_blank">LYZL1</a>;SAVANT_INFO=+/22.2kb/5/0.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.357C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYZL1+c.357C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29581527">View</a>	GT:AD:DP:GQ:PL:TP	0|0:161,0:161:99:0,484,6081:127	0|1:84,80:164:99:2189,0,2542:127	0|0:138,0:138:99:0,415,5046:127
10	29747221	.	G	A	9229.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=268;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs41299212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41299212" target="_blank">rs41299212</a>;ExAC.Info.AC=11799;ExAC.Info.AN=126704;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=10274;ExAC.Info.AC_Hom=761;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PTCHD3P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6600G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:HP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6600G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro2200Pro/c.6600C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex40;SAVANT_HGVS=c.6600C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.6600C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29747221">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,44:86:99:1245,0,1169:127	0/1:45,58:103:99:1757,0,1186:127	0/1:43,36:79:99:1049,0,1177:127
10	29754535	.	G	A	2590.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=79;MQ=68.72;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17694739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17694739" target="_blank">rs17694739</a>;ExAC.Info.AC=11663;ExAC.Info.AN=126688;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=10071;ExAC.Info.AC_Hom=748;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PTCHD3P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Gelsolin-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6122G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Gelsolin-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6122G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Gelsolin-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6122G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala2041Val/c.6122C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.6122C>T_p.Ala2041Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.6122C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29754535">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,10:29:99:270,0,487:127	0/1:13,18:31:99:476,0,302:127	0/1:9,10:19:99:298,0,279:127
10	29754609	.	T	C	1729.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=55;MQ=68.66;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1057952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057952" target="_blank">rs1057952</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=50236;ExAC.Info.AN=126704;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=29292;ExAC.Info.AC_Hom=10431;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PTCHD3P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Gelsolin-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6048T>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Gelsolin-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6048T>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Gelsolin-like_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6048T>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr2016Thr/c.6048A>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.6048A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.6048A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29754609">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,8:19:99:192,0,313:127	0/1:9,7:16:99:216,0,247:127	0/1:10,10:20:99:263,0,244:127
10	29759225	.	A	G	6879.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=251;MQ=70.03;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11007607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11007607" target="_blank">rs11007607</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=28848;ExAC.Info.AN=126702;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=21937;ExAC.Info.AC_Hom=3447;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PTCHD3P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Gelsolin-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5823A>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Gelsolin-like_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5823A>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala1941Ala/c.5823T>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.5823T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.5823T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29759225">View</a>	GT:AD:DP:GQ:PL:TP	0/1:57,31:88:99:742,0,1607:127	0/1:56,42:98:99:1018,0,1552:127	0/1:40,25:65:99:681,0,1144:127
10	29760209	.	C	T	2532.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2274494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274494" target="_blank">rs2274494</a>;ExAC.Info.AC=48081;ExAC.Info.AN=125766;ExAC.Info.AF=0.382;ExAC.Info.AC_Het=23247;ExAC.Info.AC_Hom=7867;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PTCHD3P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5530-37G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Gelsolin-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5530C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Gelsolin-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5530C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Gelsolin-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5530C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.5530-37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.5530-37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29760209">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,20:28:99:634,0,191:127	0/1:16,14:30:99:369,0,531:127	0/1:10,14:24:99:385,0,306:127
10	29769647	.	G	A	11949.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10763720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10763720" target="_blank">rs10763720</a>;ExAC.Info.AC=11804;ExAC.Info.AN=126704;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=10281;ExAC.Info.AC_Hom=761;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PTCHD3P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val1732Val/c.5196C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5196C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.5196C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29769647">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,55:102:99:1523,0,1247:127	0/1:69,70:139:99:1960,0,1900:127	0/1:52,41:93:99:1177,0,1519:127
10	29770551	.	A	G	18819.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=587;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11007612;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11007612" target="_blank">rs11007612</a>;ExAC.Info.AC=11808;ExAC.Info.AN=126704;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=10282;ExAC.Info.AC_Hom=763;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PTCHD3P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcg/Ccg;snpeff.Amino_Acid_Change=p.Ser1688Pro/c.5062T>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTCHD3P1" target="_blank">PTCHD3P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.5062T>C_p.Ser1688Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.5062T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29770551">View</a>	GT:AD:DP:GQ:PL:TP	0/1:87,99:186:99:2662,0,2071:127	0/1:102,103:205:99:2928,0,2750:127	0/1:94,102:196:99:2852,0,2584:127
10	29777558	.	G	A	3435.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=109;MQ=66.88;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61737742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61737742" target="_blank">rs61737742</a>;ExAC.Info.AC=11711;ExAC.Info.AN=126678;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=10114;ExAC.Info.AC_Hom=690;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NEB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4320G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NEB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4320G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NEB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4320G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NEB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4320G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NEB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4320G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NEB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4320G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr1440Tyr/c.4320C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.4320C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.4320C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29777558">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,20:39:99:549,0,591:127	0/1:21,19:40:99:570,0,689:127	0/1:19,11:30:99:331,0,618:127
10	29779847	.	A	C	997.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=392;MQ=66.20;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|D|D|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs199726033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199726033" target="_blank">rs199726033</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=25457;ExAC.Info.AN=126704;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=22954;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTc/cGc;snpeff.Amino_Acid_Change=p.Leu1374Arg/c.4121T>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.4121T>G_p.Leu1374Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.4121T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29779847">View</a>	GT:AD:DP:GQ:PL:TP	1|0:100,22:122:99:339,0,2992:68	0|0:133,11:144:68:0,68,4100:68	1|0:109,17:126:99:140,0,3473:68
10	29783813	.	G	A	4019.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs6481600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6481600" target="_blank">rs6481600</a>;ExAC.Info.AC=64240;ExAC.Info.AN=126694;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=29992;ExAC.Info.AC_Hom=17041;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3841+30C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3841+30C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.3841+30C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29783813">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,21:50:99:529,0,898:127	0/1:53,23:76:99:601,0,1649:127	0/1:32,22:54:99:563,0,995:127
10	29783885	.	A	G	5393.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=269;MQ=66.75;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1056782;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1056782" target="_blank">rs1056782</a>;ExAC.Info.AC=51369;ExAC.Info.AN=126704;ExAC.Info.AF=0.405;ExAC.Info.AC_Het=35326;ExAC.Info.AC_Hom=7669;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu1267Leu/c.3799T>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.3799T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.3799T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29783885">View</a>	GT:AD:DP:GQ:PL:TP	0/1:61,35:96:99:900,0,1753:127	0/1:67,27:94:99:714,0,2102:127	0/1:51,28:79:99:721,0,1532:127
10	29783908	.	A	G	1172.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=283;MQ=65.78;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|B|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs78773460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78773460" target="_blank">rs78773460</a>;cosmic68.Histology_subtype=squamous_cell_carcinoma;ExAC.Info.AC=22478;ExAC.Info.AN=126704;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=21534;ExAC.Info.AC_Hom=4;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met1259Thr/c.3776T>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.3776T>C_p.Met1259Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.3776T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29783908">View</a>	GT:AD:DP:GQ:PL:TP	0/1:94,16:110:99:206,0,2604:87	0/1:82,13:95:99:135,0,2494:87	0/1:69,9:78:88:88,0,2016:87
10	29783984	.	GAAACT	G	9773.29	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=182;MQ=63.76;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3031505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3031505" target="_blank">rs3031505</a>;ExAC.Info.AC=9224;ExAC.Info.AN=107994;ExAC.Info.AF=0.085;ExAC.Info.AC_Het=5602;ExAC.Info.AC_Hom=132;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3754+32_3754+36delAGTTT;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.3754+32_3754+36del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.3754+32_3754+36del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29783984">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,41:70:99:1634,0,1074:127	0/1:22,37:59:99:1488,0,812:127	0/1:21,32:53:99:1281,0,785:127
10	29784004	.	G	A	3507.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=155;MQ=61.61;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs28427082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28427082" target="_blank">rs28427082</a>;ExAC.Info.AC=53882;ExAC.Info.AN=126340;ExAC.Info.AF=0.426;ExAC.Info.AC_Het=49317;ExAC.Info.AC_Hom=1394;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3754+17C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.3754+17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.3754+17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29784004">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,22:53:99:588,0,1003:127	0/1:34,18:52:99:409,0,1129:127	0/1:34,16:50:99:337,0,1089:127
10	29784072	.	G	C	3894.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=45;MQ=56.34;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2368406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2368406" target="_blank">rs2368406</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=94219;ExAC.Info.AN=126480;ExAC.Info.AF=0.745;ExAC.Info.AC_Het=26067;ExAC.Info.AC_Hom=31945;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Gcc;snpeff.Amino_Acid_Change=p.Pro1235Ala/c.3703C>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.3703C>G_p.Pro1235Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.3703C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29784072">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,10:10:30:396,30,0:47	1|1:0,16:16:48:623,48,0:47	1|1:0,19:19:57:723,57,0:47
10	29812602	.	G	T	28125.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=388;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs7070678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7070678" target="_blank">rs7070678</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=49433;ExAC.Info.AN=126692;ExAC.Info.AF=0.390;ExAC.Info.AC_Het=28740;ExAC.Info.AC_Hom=10338;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cga/Aga;snpeff.Amino_Acid_Change=p.Arg981Arg/c.2941C>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2941C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.2941C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29812602">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3587,295,0:127	1|1:0,150:150:99:5491,450,0:127	1|0:60,80:140:99:2452,0,1605:127
10	29818604	.	A	C	7576.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs913035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=913035" target="_blank">rs913035</a>;ExAC.Info.AC=37622;ExAC.Info.AN=126654;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=25513;ExAC.Info.AC_Hom=5861;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2246+30T>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2246+30T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.2246+30T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29818604">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:1064,78,0:77	1|1:0,44:44:99:1581,132,0:77	1|0:22,21:43:99:674,0,611:77
10	29821523	.	T	C	21002.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1328323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1328323" target="_blank">rs1328323</a>;ExAC.Info.AC=47969;ExAC.Info.AN=126700;ExAC.Info.AF=0.379;ExAC.Info.AC_Het=28245;ExAC.Info.AC_Hom=9841;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys591Lys/c.1773A>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1773A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.1773A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29821523">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3601,310,0:127	1|1:1,104:105:99:3663,274,0:127	1|0:40,40:80:99:1291,0,1107:127
10	29822032	.	C	T	17882.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1247696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1247696" target="_blank">rs1247696</a>;ExAC.Info.AC=124929;ExAC.Info.AN=126698;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1720;ExAC.Info.AC_Hom=61303;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val422Ile/c.1264G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1264G>A_p.Val422Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.1264G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29822032">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1903,171,0:127	1|1:0,88:88:99:2955,264,0:127	1|1:0,74:74:99:2622,222,0:127
10	29822159	.	T	C	25580.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs7076239;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7076239" target="_blank">rs7076239</a>;ExAC.Info.AC=49201;ExAC.Info.AN=126698;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=28636;ExAC.Info.AC_Hom=10276;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu379Leu/c.1137A>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1137A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.1137A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29822159">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:4017,328,0:127	1|1:0,144:144:99:5267,432,0:127	1|0:71,42:113:99:1281,0,2064:127
10	29833998	.	A	G	32438.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2368393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2368393" target="_blank">rs2368393</a>;ExAC.Info.AC=36445;ExAC.Info.AN=126236;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=25611;ExAC.Info.AC_Hom=5381;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.29T>C;snpeff.Gene_Name=MIR604;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR604" target="_blank">MIR604</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000384880;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.827+5528T>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR604" target="_blank">MIR604</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.827+5528T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.827+5528T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29833998">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,102:102:99:4468,310,0:127	1|1:0,137:137:99:6092,412,0:127	1|0:71,51:122:99:1897,0,3364:127
10	29834003	.	G	A	30795.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2368392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2368392" target="_blank">rs2368392</a>;ExAC.Info.AC=36214;ExAC.Info.AN=126238;ExAC.Info.AF=0.287;ExAC.Info.AC_Het=25541;ExAC.Info.AC_Hom=5289;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.24C>T;snpeff.Gene_Name=MIR604;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR604" target="_blank">MIR604</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000384880;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.827+5523C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR604" target="_blank">MIR604</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.827+5523C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.827+5523C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29834003">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:4171,283,0:127	1|1:0,128:128:99:5827,391,0:127	1|0:67,47:114:99:1785,0,3311:127
10	29839787	.	A	G	27030.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10160013;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10160013" target="_blank">rs10160013</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=34678;ExAC.Info.AN=126704;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=24622;ExAC.Info.AC_Hom=5021;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val189Ala/c.566T>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.566T>C_p.Val189Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.566T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29839787">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:3837,328,0:127	1|1:0,135:135:99:4735,406,0:127	1|0:54,68:122:99:2020,0,1492:127
10	29839864	.	A	C	33500.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1270874;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1270874" target="_blank">rs1270874</a>;ExAC.Info.AC=93337;ExAC.Info.AN=126704;ExAC.Info.AF=0.737;ExAC.Info.AC_Het=24390;ExAC.Info.AC_Hom=34466;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.489A>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.489A>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.489A>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcG;snpeff.Amino_Acid_Change=p.Ala163Ala/c.489T>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.489T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.489T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29839864">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,127:127:99:4289,382,0:127	1|1:1,137:138:99:4668,404,0:127	1|1:0,138:138:99:4837,415,0:127
10	29840038	.	A	G	24040.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3740003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740003" target="_blank">rs3740003</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=36119;ExAC.Info.AN=126704;ExAC.Info.AF=0.285;ExAC.Info.AC_Het=25410;ExAC.Info.AC_Hom=5352;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile105Ile/c.315T>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.315T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.315T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29840038">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2936,247,0:127	1|1:0,145:145:99:5111,436,0:127	1|0:46,41:87:99:1258,0,1292:127
10	29840164	.	A	G	16882.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3740002;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740002" target="_blank">rs3740002</a>;ExAC.Info.AC=32755;ExAC.Info.AN=126688;ExAC.Info.AF=0.259;ExAC.Info.AC_Het=23792;ExAC.Info.AC_Hom=4327;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.189A>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.189A>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.189A>G;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser63Ser/c.189T>C;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.189T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.189T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29840164">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2182,201,0:127	1|1:0,95:95:99:3344,286,0:127	1|0:49,42:91:99:1125,0,1359:127
10	29843833	.	C	T	17025.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1547169;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1547169" target="_blank">rs1547169</a>;ExAC.Info.AC=32989;ExAC.Info.AN=126698;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=24019;ExAC.Info.AC_Hom=4441;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MYLK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.39C>T;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly13Gly/c.39G>A;snpeff.Amino_Acid_length=2214;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.39G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.39G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29843833">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3093,282,0:127	1|1:1,92:93:99:3095,242,0:127	1|0:38,34:72:99:894,0,1166:127
10	29932918	.	G	A	1974.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2488689;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2488689" target="_blank">rs2488689</a>;ExAC.Info.AC=50043;ExAC.Info.AN=116812;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=27511;ExAC.Info.AC_Hom=10785;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375398;SAVANT_GENE=SVIL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVIL" target="_blank">SVIL</a>;SAVANT_INFO=-/278.5kb/40/8.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-88931C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVIL+c.-88931C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:29932918">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1597:127	0|1:34,37:71:99:1006,0,927:127	0|0:49,0:49:99:0,147,1508:127
10	30306804	.	G	A	18652.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2478839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2478839" target="_blank">rs2478839</a>;ExAC.Info.AC=47705;ExAC.Info.AN=125220;ExAC.Info.AF=0.381;ExAC.Info.AC_Het=28035;ExAC.Info.AC_Hom=9751;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.*8C>T;snpeff.Amino_Acid_length=1359;snpeff.Gene_Name=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375377;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375377;SAVANT_GENE=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;SAVANT_INFO=-/46.7kb/4/9.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*8C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1462+c.*8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30306804">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,64:126:99:1749,0,1625:127	1|1:2,152:154:99:5003,413,0:127	0|1:73,66:139:99:1856,0,2089:127
10	30316072	.	C	G	21845.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3739998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3739998" target="_blank">rs3739998</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Coronary_artery_disease|_association_with;hgmd_2014.2.OMIM_ID=614398;hgmd_2014.2.PubMed=21088011;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21088011" target="_blank">21088011</a>;ExAC.Info.AC=46338;ExAC.Info.AN=125216;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=27671;ExAC.Info.AC_Hom=9328;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aCt;snpeff.Amino_Acid_Change=p.Ser1002Thr/c.3005G>C;snpeff.Amino_Acid_length=1359;snpeff.Gene_Name=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375377;SAVANT_GENE=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;SAVANT_INFO=-/46.7kb/4/9.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.3005G>C_p.Ser1002Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1462+c.3005G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30316072">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,66:128:99:2261,0,1877:127	1|1:0,143:143:99:5663,430,0:127	0|1:60,66:126:99:2032,0,1916:127
10	30316208	.	T	C	16060.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=787;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2185724;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2185724" target="_blank">rs2185724</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=46828;ExAC.Info.AN=125466;ExAC.Info.AF=0.373;ExAC.Info.AC_Het=28581;ExAC.Info.AC_Hom=9085;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg957Gly/c.2869A>G;snpeff.Amino_Acid_length=1359;snpeff.Gene_Name=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375377;SAVANT_GENE=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;SAVANT_INFO=-/46.7kb/4/9.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2869A>G_p.Arg957Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1462+c.2869A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30316208">View</a>	GT:AD:DP:GQ:PL:TP	1|0:152,109:261:99:2866,0,4136:127	0|0:277,0:277:99:0,832,9509:127	1|0:123,126:249:99:3615,0,3288:127
10	30316872	.	T	C	14565.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=719;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3739996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3739996" target="_blank">rs3739996</a>;ExAC.Info.AC=38446;ExAC.Info.AN=125736;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=25305;ExAC.Info.AC_Hom=6519;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala735Ala/c.2205A>G;snpeff.Amino_Acid_length=1359;snpeff.Gene_Name=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375377;SAVANT_GENE=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;SAVANT_INFO=-/46.7kb/4/9.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2205A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1462+c.2205A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30316872">View</a>	GT:AD:DP:GQ:PL:TP	1|0:110,103:213:99:2833,0,3055:127	0|0:265,0:265:99:0,796,9364:127	1|0:141,100:241:99:2709,0,4033:127
10	30317073	.	G	A	20266.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=538;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs9337951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9337951" target="_blank">rs9337951</a>;ExAC.Info.AC=33727;ExAC.Info.AN=125408;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=22793;ExAC.Info.AC_Hom=5451;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His668His/c.2004C>T;snpeff.Amino_Acid_length=1359;snpeff.Gene_Name=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375377;SAVANT_GENE=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;SAVANT_INFO=-/46.7kb/4/9.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2004C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1462+c.2004C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30317073">View</a>	GT:AD:DP:GQ:PL:TP	0|1:83,80:163:99:2169,0,2466:127	1|1:1,205:206:99:7211,581,0:127	0|0:169,0:169:99:0,508,6215:127
10	30317826	.	A	G	13309.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=559;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7920682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7920682" target="_blank">rs7920682</a>;ExAC.Info.AC=57873;ExAC.Info.AN=125284;ExAC.Info.AF=0.462;ExAC.Info.AC_Het=28852;ExAC.Info.AC_Hom=14416;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr417Tyr/c.1251T>C;snpeff.Amino_Acid_length=1359;snpeff.Gene_Name=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375377;SAVANT_GENE=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;SAVANT_INFO=-/46.7kb/4/9.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1251T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1462+c.1251T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30317826">View</a>	GT:AD:DP:GQ:PL:TP	1|0:92,83:175:99:3086,0,4591:127	0|0:212,0:212:99:0,665,13040:127	1|0:101,71:172:99:2661,0,5194:127
10	30317838	.	A	G	13240.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=531;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7920686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7920686" target="_blank">rs7920686</a>;ExAC.Info.AC=57555;ExAC.Info.AN=125282;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=29016;ExAC.Info.AC_Hom=14158;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1239A>G;snpeff.Amino_Acid_length=1359;snpeff.Gene_Name=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro413Pro/c.1239T>C;snpeff.Amino_Acid_length=1359;snpeff.Gene_Name=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375377;SAVANT_GENE=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;SAVANT_INFO=-/46.7kb/4/9.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1239T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1462+c.1239T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30317838">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,73:160:99:2887,0,4549:127	0|0:206,0:206:99:0,635,12766:127	1|0:92,73:165:99:2756,0,4878:127
10	30317949	.	C	T	19071.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2478835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2478835" target="_blank">rs2478835</a>;ExAC.Info.AC=47167;ExAC.Info.AN=125682;ExAC.Info.AF=0.375;ExAC.Info.AC_Het=27824;ExAC.Info.AC_Hom=9643;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1128C>T;snpeff.Amino_Acid_length=1359;snpeff.Gene_Name=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro376Pro/c.1128G>A;snpeff.Amino_Acid_length=1359;snpeff.Gene_Name=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375377;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375377;SAVANT_GENE=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;SAVANT_INFO=-/46.7kb/4/9.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1128G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1462+c.1128G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30317949">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,40:87:99:1100,0,1349:127	1|1:0,161:161:99:5383,481,0:127	0|1:47,62:109:99:1854,0,1208:127
10	30336672	.	C	T	15856.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=709;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72810797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72810797" target="_blank">rs72810797</a>;ExAC.Info.AC=3117;ExAC.Info.AN=125640;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=3000;ExAC.Info.AC_Hom=57;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu24Lys/c.70G>A;snpeff.Amino_Acid_length=1359;snpeff.Gene_Name=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375377;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375377;SAVANT_GENE=KIAA1462;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1462" target="_blank">KIAA1462</a>;SAVANT_INFO=-/46.7kb/4/9.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.70G>A_p.Glu24Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1462+c.70G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30336672">View</a>	GT:AD:DP:GQ:PL:TP	1|0:115,96:211:99:2555,0,3313:127	0|0:281,0:281:99:0,844,9907:127	1|0:99,118:217:99:3447,0,2786:127
10	30629136	.	G	A	23070.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=811;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Ataxia|_spastic|_4|_613672_(3);dbSNP139.ID=rs1047988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1047988" target="_blank">rs1047988</a>;ExAC.Info.AC=31756;ExAC.Info.AN=126696;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=23261;ExAC.Info.AC_Hom=4087;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126860;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.945+19C>T;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=MTPAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTPAP" target="_blank">MTPAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263063;SAVANT_GENE=MTPAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTPAP" target="_blank">MTPAP</a>;SAVANT_INFO=-/36.5kb/9/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.555+19C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTPAP+c.555+19C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30629136">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126860" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:124,107:231:99:3132,0,3619:127	0/1:161,157:318:99:4662,0,4475:127	0/1:141,121:262:99:3457,0,4126:127
10	30629226	.	G	A	35256.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1242;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Ataxia|_spastic|_4|_613672_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1047991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1047991" target="_blank">rs1047991</a>;ExAC.Info.AC=31608;ExAC.Info.AN=126704;ExAC.Info.AF=0.249;ExAC.Info.AC_Het=23265;ExAC.Info.AC_Hom=4168;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000126859|RCV000117635;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg292Cys/c.874C>T;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=MTPAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTPAP" target="_blank">MTPAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358107;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263063;SAVANT_GENE=MTPAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTPAP" target="_blank">MTPAP</a>;SAVANT_INFO=-/36.5kb/9/2.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.484C>T_p.Arg162Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTPAP+c.484C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30629226">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126859%20OR%20RCV000117635" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:226,209:435:99:5531,0,6141:127	0/1:188,209:397:99:5886,0,5293:127	0/1:210,200:410:99:5745,0,5981:127
10	30638208	.	T	TAAA	3693.88	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Ataxia|_spastic|_4|_613672_(3);ExAC.Info.AC=3112;ExAC.Info.AN=115384;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=346;ExAC.Info.AC_Hom=576;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.548-7639_548-7640insTTT;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=MTPAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTPAP" target="_blank">MTPAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358107;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000263063;SAVANT_GENE=MTPAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTPAP" target="_blank">MTPAP</a>;SAVANT_INFO=-/36.5kb/9/2.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-7_-5dupTTT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTPAP+c.-7_-5dupTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30638208">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,14:19:51:288,0,51:24	0|1:6,27:33:24:643,0,24:24	1|1:2,18:20:25:474,25,0:24
10	30728101	.	T	C	40452.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=648;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs1042058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1042058" target="_blank">rs1042058</a>;ExAC.Info.AC=63894;ExAC.Info.AN=126702;ExAC.Info.AF=0.504;ExAC.Info.AC_Het=28688;ExAC.Info.AC_Hom=17598;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr78Tyr/c.234T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=MAP3K8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K8" target="_blank">MAP3K8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375321;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263056;SAVANT_GENE=MAP3K8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K8" target="_blank">MAP3K8</a>;SAVANT_INFO=+/27.9kb/9/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.234T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAP3K8+c.234T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30728101">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,187:187:99:6430,562,0:127	1|0:137,117:254:99:3382,0,4006:127	1|1:0,207:207:99:7265,622,0:127
10	30728250	.	A	G	38220.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=574;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Lung_cancer|_somatic|_211980_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2907" target="_blank">rs2907</a>;ExAC.Info.AC=64034;ExAC.Info.AN=126570;ExAC.Info.AF=0.506;ExAC.Info.AC_Het=28302;ExAC.Info.AC_Hom=17012;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.336+47A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=MAP3K8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K8" target="_blank">MAP3K8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375321;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263056;SAVANT_GENE=MAP3K8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K8" target="_blank">MAP3K8</a>;SAVANT_INFO=+/27.9kb/9/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.336+47A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAP3K8+c.336+47A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30728250">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,163:163:99:5588,490,0:127	1|0:90,100:190:99:3068,0,2407:127	1|1:0,221:221:99:7897,664,0:127
10	30748498	.	T	C	5283.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=554;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs8177029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8177029" target="_blank">rs8177029</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1273+68T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=MAP3K8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K8" target="_blank">MAP3K8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375321;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263056;SAVANT_GENE=MAP3K8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K8" target="_blank">MAP3K8</a>;SAVANT_INFO=+/27.9kb/9/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1273+68T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAP3K8+c.1273+68T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30748498">View</a>	GT:AD:DP:GQ:PL:TP	0|0:190,0:190:99:0,571,6384:127	0|1:112,98:210:99:2657,0,2960:127	0|0:154,0:154:99:0,463,5149:127
10	30749895	.	G	A	18863.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs3034;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3034" target="_blank">rs3034</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=130;snpeff.Amino_Acid_Change=c.*130G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=MAP3K8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K8" target="_blank">MAP3K8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375321;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263056;SAVANT_GENE=MAP3K8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K8" target="_blank">MAP3K8</a>;SAVANT_INFO=+/27.9kb/9/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*130G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAP3K8+c.*130G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30749895">View</a>	GT:AD:DP:GQ:PL:TP	1|1:10,59:69:99:1873,143,0:127	1|1:5,109:114:99:3675,310,0:127	1|1:7,75:82:99:2610,201,0:127
10	30915898	.	C	T	260.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=93;MQ=63.45;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61844263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61844263" target="_blank">rs61844263</a>;ExAC.Info.AC=27423;ExAC.Info.AN=126690;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=24539;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.114-29G>A;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=LYZL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL2" target="_blank">LYZL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375318;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000375318;SAVANT_GENE=LYZL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYZL2" target="_blank">LYZL2</a>;SAVANT_INFO=-/18.0kb/5/0.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.114-29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYZL2+c.114-29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30915898">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,5:27:99:118,0,673:71	1|0:37,5:42:57:57,0,1196:71	0|0:24,0:24:72:0,72,942:71
10	30974174	.	T	C	1074.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=140;MQ=64.88;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4749580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4749580" target="_blank">rs4749580</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.92-17T>C;snpeff.Gene_Name=SVILP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422642;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVILP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30974174">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1881:116	0|0:39,0:39:99:0,117,1366:116	0|1:24,20:44:99:556,0,641:116
10	30982453	.	T	C	892.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=132;MQ=65.76;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7068641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7068641" target="_blank">rs7068641</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.623T>C;snpeff.Gene_Name=SVILP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422642;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVILP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30982453">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,6:43:82:82,0,1071:81	0/1:41,10:51:99:194,0,1252:81	0/1:32,6:38:99:102,0,942:81
10	30982475	.	A	G	1064.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=148;MQ=64.91;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7084628;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7084628" target="_blank">rs7084628</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.645A>G;snpeff.Gene_Name=SVILP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422642;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVILP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30982475">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,11:52:99:219,0,1259:127	0/1:43,9:52:99:169,0,1394:127	0/1:35,9:44:99:181,0,1082:127
10	30982526	.	T	G	5042.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=254;MQ=65.08;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7068784;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7068784" target="_blank">rs7068784</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.696T>G;snpeff.Gene_Name=SVILP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422642;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVILP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30982526">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,32:79:99:781,0,1320:127	0/1:66,26:92:99:620,0,1754:127	0/1:49,34:83:99:843,0,1496:127
10	30986296	.	C	T	4599.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=56;MQ=69.43;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4749587;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4749587" target="_blank">rs4749587</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.924-9C>T;snpeff.Gene_Name=SVILP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422642;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVILP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30986296">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,18:18:54:632,54,0:44	1|1:0,23:23:69:827,69,0:44	1|1:0,15:15:45:488,45,0:44
10	30986348	.	G	A	894.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=93;MQ=69.34;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4749588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4749588" target="_blank">rs4749588</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.967G>A;snpeff.Gene_Name=SVILP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422642;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVILP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30986348">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,974:92	0|0:32,0:32:96:0,96,1072:92	0|1:13,16:29:99:466,0,328:92
10	30986364	.	G	A	6918.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=103;MQ=69.40;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs7078530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7078530" target="_blank">rs7078530</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.983G>A;snpeff.Gene_Name=SVILP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422642;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVILP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30986364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1016,105,0:103	1|1:0,36:36:99:1199,108,0:103	1|0:16,16:32:99:450,0,389:103
10	30989188	.	G	C	39278.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=484;MQ=68.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10740829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740829" target="_blank">rs10740829</a>;ExAC.Info.AC=126191;ExAC.Info.AN=126374;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=126;ExAC.Info.AC_Hom=51371;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1504G>C;snpeff.Gene_Name=SVILP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422642;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVILP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30989188">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,162:162:99:5552,487,0:127	1|1:0,175:175:99:6055,525,0:127	1|1:0,147:147:99:5138,442,0:127
10	30993404	.	G	A	28794.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs11008192;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11008192" target="_blank">rs11008192</a>;ExAC.Info.AC=76027;ExAC.Info.AN=126678;ExAC.Info.AF=0.600;ExAC.Info.AC_Het=29194;ExAC.Info.AC_Hom=23027;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1715G>A;snpeff.Gene_Name=SVILP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422642;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVILP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30993404">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:4455,414,0:127	1|1:0,157:157:99:5218,472,0:127	1|0:84,57:141:99:1458,0,2321:127
10	30993448	.	G	A	31994.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=392;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10826848;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10826848" target="_blank">rs10826848</a>;ExAC.Info.AC=115841;ExAC.Info.AN=126696;ExAC.Info.AF=0.914;ExAC.Info.AC_Het=9512;ExAC.Info.AC_Hom=53025;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1759G>A;snpeff.Gene_Name=SVILP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422642;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVILP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:30993448">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:3692,345,0:127	1|1:0,153:153:99:5023,460,0:127	1|1:0,124:124:99:4039,372,0:127
10	31001494	.	A	C	66020.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=803;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1826619;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1826619" target="_blank">rs1826619</a>;ExAC.Info.AC=97378;ExAC.Info.AN=126692;ExAC.Info.AF=0.769;ExAC.Info.AC_Het=20143;ExAC.Info.AC_Hom=38517;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2234A>C;snpeff.Gene_Name=SVILP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422642;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SVILP1" target="_blank">SVILP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SVILP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:31001494">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,262:262:99:9023,787,0:127	1|1:0,298:298:99:10527,895,0:127	1|1:0,243:243:99:8441,730,0:127
10	31134214	.	A	G	17357.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=486;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3740236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740236" target="_blank">rs3740236</a>;ExAC.Info.AC=16488;ExAC.Info.AN=126702;ExAC.Info.AF=0.130;ExAC.Info.AC_Het=13342;ExAC.Info.AC_Hom=1572;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His721His/c.2163T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=ZNF438;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF438" target="_blank">ZNF438</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436087;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000436087;SAVANT_GENE=ZNF438;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF438" target="_blank">ZNF438</a>;SAVANT_INFO=-/187.3kb/8/3.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.2163T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF438+c.2163T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:31134214">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,64:136:99:1740,0,2104:127	0|0:188,1:189:99:0,538,6388:127	1|1:1,160:161:99:5726,444,0:127
10	31146615	.	T	C	14581.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=467;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16932010;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16932010" target="_blank">rs16932010</a>;ExAC.Info.AC=3945;ExAC.Info.AN=26894;ExAC.Info.AF=0.147;ExAC.Info.AC_Het=3034;ExAC.Info.AC_Hom=389;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.38-7319A>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=ZNF438;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF438" target="_blank">ZNF438</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000436087;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000436087;SAVANT_GENE=ZNF438;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF438" target="_blank">ZNF438</a>;SAVANT_INFO=-/187.3kb/8/3.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.38-7319A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF438+c.38-7319A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:31146615">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,88:162:99:2430,0,1870:127	0|0:179,1:180:99:0,502,5966:127	1|1:1,124:125:99:4123,333,0:127
10	31791501	.	A	G	2860.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Corneal_dystrophy|_posterior_polymorphous|_3|_609141_(3)|_Corneal_dystrophy|_Fuchs_endothelial|_6|_613270_(3);dbSNP139.ID=rs2839664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2839664" target="_blank">rs2839664</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.484+64A>G;snpeff.Amino_Acid_length=1125;snpeff.Gene_Name=ZEB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZEB1" target="_blank">ZEB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361642;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361642;SAVANT_GENE=ZEB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZEB1" target="_blank">ZEB1</a>;SAVANT_INFO=+/210.6kb/9/6.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.484+64A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZEB1+c.484+64A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:31791501">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,241,2702:127	0|1:47,44:91:99:1449,0,1385:127	0|0:82,0:82:99:0,247,2969:127
10	31803516	.	G	A	40321.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=530;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Corneal_dystrophy|_posterior_polymorphous|_3|_609141_(3)|_Corneal_dystrophy|_Fuchs_endothelial|_6|_613270_(3);dbSNP139.ID=rs220060;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=220060" target="_blank">rs220060</a>;ExAC.Info.AC=119380;ExAC.Info.AN=126642;ExAC.Info.AF=0.943;ExAC.Info.AC_Het=6619;ExAC.Info.AC_Hom=56018;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.688-15G>A;snpeff.Amino_Acid_length=1125;snpeff.Gene_Name=ZEB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZEB1" target="_blank">ZEB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361642;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361642;SAVANT_GENE=ZEB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZEB1" target="_blank">ZEB1</a>;SAVANT_INFO=+/210.6kb/9/6.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.688-15G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZEB1+c.688-15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:31803516">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:5936,508,0:127	1|1:0,173:173:99:6506,520,0:127	1|1:0,188:188:99:7000,565,0:127
10	32106851	.	A	G	11232.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2778650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2778650" target="_blank">rs2778650</a>;ExAC.Info.AC=61590;ExAC.Info.AN=126614;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=30396;ExAC.Info.AC_Hom=14884;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1633-37T>C;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633A>G;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633A>G;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633A>G;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1633A>G;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344936;SAVANT_GENE=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;SAVANT_INFO=-/122.5kb/20/4.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1633-37T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP12+c.1633-37T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32106851">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1610,138,0:120	1|1:0,55:55:99:2081,165,0:120	1|1:0,40:40:99:1456,120,0:120
10	32120678	.	C	T	3540.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2808100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2808100" target="_blank">rs2808100</a>;ExAC.Info.AC=27673;ExAC.Info.AN=126634;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=20905;ExAC.Info.AC_Hom=3153;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437C>T;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437C>T;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437C>T;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1437C>T;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly479Gly/c.1437G>A;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344936;SAVANT_GENE=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;SAVANT_INFO=-/122.5kb/20/4.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1437G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP12+c.1437G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32120678">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,30:65:99:777,0,998:127	1|0:46,36:82:99:961,0,1393:127	0|0:59,0:59:99:0,177,2057:127
10	32128611	.	A	G	2110.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2808096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2808096" target="_blank">rs2808096</a>;ExAC.Info.AC=27540;ExAC.Info.AN=126702;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=20929;ExAC.Info.AC_Hom=3286;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tCt;snpeff.Amino_Acid_Change=p.Phe442Ser/c.1325T>C;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344936;SAVANT_GENE=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;SAVANT_INFO=-/122.5kb/20/4.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1325T>C_p.Phe442Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP12+c.1325T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32128611">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,18:38:99:516,0,482:90	1|0:18,17:35:99:531,0,553:90	0|0:30,0:30:90:0,90,932:90
10	32141460	.	T	C	13031.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=614;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2799021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2799021" target="_blank">rs2799021</a>;ExAC.Info.AC=27558;ExAC.Info.AN=126702;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=20910;ExAC.Info.AC_Hom=3322;snpeff.Effect=sequence_feature[domain:WW_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WW_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WW_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu385Glu/c.1155A>G;snpeff.Amino_Acid_length=846;snpeff.Gene_Name=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344936;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344936;SAVANT_GENE=ARHGAP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP12" target="_blank">ARHGAP12</a>;SAVANT_INFO=-/122.5kb/20/4.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1155A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP12+c.1155A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32141460">View</a>	GT:AD:DP:GQ:PL:TP	0|1:112,101:213:99:2780,0,3035:127	1|0:114,107:221:99:3042,0,3139:127	0|0:180,0:180:99:0,541,6141:127
10	32311969	.	A	G	33953.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs176924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=176924" target="_blank">rs176924</a>;ExAC.Info.AC=125604;ExAC.Info.AN=126688;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=966;ExAC.Info.AC_Hom=62082;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1726-5T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726A>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726T>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302418;SAVANT_GENE=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;SAVANT_INFO=-/47.4kb/26/5.9kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1726-5T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF5B+c.1726-5T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32311969">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4597,400,0:127	1|1:0,165:165:99:5975,495,0:127	1|1:0,121:121:99:4106,363,0:127
10	32323591	.	G	T	8348.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs211277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=211277" target="_blank">rs211277</a>;ExAC.Info.AC=26837;ExAC.Info.AN=126626;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20151;ExAC.Info.AC_Hom=2961;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1111+27C>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1112G>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302418;SAVANT_GENE=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;SAVANT_INFO=-/47.4kb/26/5.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1111+27C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF5B+c.1111+27C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32323591">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,30:66:99:684,0,1036:127	0|1:41,42:83:99:1125,0,1062:127	1|1:0,64:64:99:2094,192,0:127
10	32327779	.	C	G	676.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs45615333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45615333" target="_blank">rs45615333</a>;ExAC.Info.AC=12072;ExAC.Info.AN=126322;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=9706;ExAC.Info.AC_Hom=587;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.394-25G>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394C>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302418;SAVANT_GENE=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;SAVANT_INFO=-/47.4kb/26/5.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.394-25G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF5B+c.394-25G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32327779">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2254:127	0|0:80,0:80:99:0,240,2788:127	0|1:27,14:41:99:357,0,854:127
10	32328389	.	A	C	888.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41289023;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41289023" target="_blank">rs41289023</a>;ExAC.Info.AC=13052;ExAC.Info.AN=124894;ExAC.Info.AF=0.105;ExAC.Info.AC_Het=10410;ExAC.Info.AC_Hom=750;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.289-30T>G;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302418;SAVANT_GENE=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;SAVANT_INFO=-/47.4kb/26/5.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.289-30T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF5B+c.289-30T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32328389">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1561:127	0|0:48,0:48:99:0,144,1595:127	0|1:14,16:30:99:463,0,435:127
10	32344747	.	G	A	4943.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs211299;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=211299" target="_blank">rs211299</a>;ExAC.Info.AC=12889;ExAC.Info.AN=126652;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=11151;ExAC.Info.AC_Hom=764;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.126+29C>T;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kinesin-motor];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.127G>A;snpeff.Amino_Acid_length=963;snpeff.Gene_Name=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302418;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302418;SAVANT_GENE=KIF5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF5B" target="_blank">KIF5B</a>;SAVANT_INFO=-/47.4kb/26/5.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.126+29C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF5B+c.126+29C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32344747">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,12:38:99:334,0,726:127	0/1:37,27:64:99:741,0,986:127	0/1:22,26:48:99:754,0,538:127
10	32575793	.	A	G	26243.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=351;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2986931;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2986931" target="_blank">rs2986931</a>;ExAC.Info.AC=84451;ExAC.Info.AN=126682;ExAC.Info.AF=0.667;ExAC.Info.AC_Het=27076;ExAC.Info.AC_Hom=28513;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1243-23T>C;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=EPC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPC1" target="_blank">EPC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263062;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263062;SAVANT_GENE=EPC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPC1" target="_blank">EPC1</a>;SAVANT_INFO=-/78.3kb/15/2.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1243-23T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPC1+c.1243-23T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32575793">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:4014,321,0:127	1|0:59,71:130:99:2287,0,1719:127	1|1:0,114:114:99:4463,343,0:127
10	32580205	.	C	T	3230.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72789797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72789797" target="_blank">rs72789797</a>;ExAC.Info.AC=6683;ExAC.Info.AN=126704;ExAC.Info.AF=0.053;ExAC.Info.AC_Het=6215;ExAC.Info.AC_Hom=234;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atA;snpeff.Amino_Acid_Change=p.Met287Ile/c.861G>A;snpeff.Amino_Acid_length=836;snpeff.Gene_Name=EPC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPC1" target="_blank">EPC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263062;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263062;SAVANT_GENE=EPC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPC1" target="_blank">EPC1</a>;SAVANT_INFO=-/78.3kb/15/2.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.861G>A_p.Met287Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPC1+c.861G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32580205">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,262,3214:127	0|1:65,66:131:99:1634,0,1758:127	0|0:85,0:85:99:0,255,2726:127
10	32742234	.	A	G	3410.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2505335;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2505335" target="_blank">rs2505335</a>;ExAC.Info.AC=50163;ExAC.Info.AN=125708;ExAC.Info.AF=0.399;ExAC.Info.AC_Het=25103;ExAC.Info.AC_Hom=10665;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.280-38A>G;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362006;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362006;SAVANT_GENE=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;SAVANT_INFO=+/128.4kb/18/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.280-38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC7+c.280-38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32742234">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,16:29:99:579,0,335:68	1|1:0,31:31:93:1307,93,0:68	0|0:22,0:22:69:0,69,1068:68
10	32742256	.	T	G	7977.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2490505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2490505" target="_blank">rs2490505</a>;ExAC.Info.AC=109381;ExAC.Info.AN=126516;ExAC.Info.AF=0.865;ExAC.Info.AC_Het=13859;ExAC.Info.AC_Hom=47229;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.280-16T>G;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362006;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362006;SAVANT_GENE=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;SAVANT_INFO=+/128.4kb/18/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.280-16T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC7+c.280-16T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32742256">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1657,120,0:119	1|1:0,49:49:99:2078,147,0:119	1|0:14,17:31:99:502,0,405:119
10	32745248	.	A	C	4488.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56391924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56391924" target="_blank">rs56391924</a>;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Caa;snpeff.Amino_Acid_Change=p.Lys148Gln/c.442A>C;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362006;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362006;SAVANT_GENE=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;SAVANT_INFO=+/128.4kb/18/2.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.442A>C_p.Lys148Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC7+c.442A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32745248">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,21:71:99:585,0,1352:127	0|0:86,0:86:99:0,258,2792:127	1|0:20,42:62:99:1243,0,493:127
10	32751901	.	G	A	16400.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2505380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2505380" target="_blank">rs2505380</a>;ExAC.Info.AC=123676;ExAC.Info.AN=126626;ExAC.Info.AF=0.977;ExAC.Info.AC_Het=2221;ExAC.Info.AC_Hom=60319;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.478-44G>A;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362006;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362006;SAVANT_GENE=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;SAVANT_INFO=+/128.4kb/18/2.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.478-44G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC7+c.478-44G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32751901">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2226,192,0:127	1|1:0,89:89:99:3108,268,0:127	1|1:0,60:60:99:1989,180,0:127
10	32806972	.	C	T	5331.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2990984;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2990984" target="_blank">rs2990984</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.903+69C>T;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362006;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362006;SAVANT_GENE=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;SAVANT_INFO=+/128.4kb/18/2.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.903+69C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC7+c.903+69C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32806972">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,36:67:99:952,0,941:127	0|0:98,0:98:99:0,294,3512:127	1|0:30,53:83:99:1506,0,795:127
10	32832214	.	G	A	1730.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2990986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2990986" target="_blank">rs2990986</a>;ExAC.Info.AC=41732;ExAC.Info.AN=119344;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=10744;ExAC.Info.AC_Hom=4218;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.994-14G>A;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362006;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362006;SAVANT_GENE=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;SAVANT_INFO=+/128.4kb/18/2.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.994-14G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC7+c.994-14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32832214">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,18:35:99:487,0,559:110	0|0:37,0:37:99:0,111,1385:110	1|0:22,14:36:99:399,0,727:110
10	32833121	.	G	C	974.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11008968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11008968" target="_blank">rs11008968</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1080-54G>C;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362006;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362006;SAVANT_GENE=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;SAVANT_INFO=+/128.4kb/18/2.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1080-54G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC7+c.1080-54G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32833121">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,120,2718:77	0|0:25,0:25:78:0,78,1839:77	0|1:11,14:25:99:506,0,756:77
10	32833143	.	C	T	1064.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12266680;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12266680" target="_blank">rs12266680</a>;ExAC.Info.AC=5580;ExAC.Info.AN=126672;ExAC.Info.AF=0.044;ExAC.Info.AC_Het=5221;ExAC.Info.AC_Hom=162;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1080-32C>T;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362006;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362006;SAVANT_GENE=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7" target="_blank">CCDC7</a>;SAVANT_INFO=+/128.4kb/18/2.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1080-32C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC7+c.1080-32C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32833143">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,3249:116	0|0:39,0:39:99:0,117,2389:116	0|1:22,16:38:99:551,0,1074:116
10	32856746	.	A	C	3652.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12268559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12268559" target="_blank">rs12268559</a>;ExAC.Info.AC=16029;ExAC.Info.AN=126690;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=13247;ExAC.Info.AC_Hom=1359;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aCa;snpeff.Amino_Acid_Change=p.Lys449Thr/c.1346A>C;snpeff.Amino_Acid_length=486;snpeff.Gene_Name=CCDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362006;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362006:ENST00000302316;SAVANT_GENE=CCDC7:C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC7:C10orf68" target="_blank">CCDC7:C10orf68</a>;SAVANT_INFO=+/128.4kb/18/2.1kb:+/315.2kb/23/2.7kb;SAVANT_LOC=Ex16:5UTR;SAVANT_HGVS=c.1346A>C_p.Lys449Thr:c.-16444A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC7:C10orf68+c.1346A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32856746">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,19:44:99:482,0,744:127	0|0:66,0:66:99:0,198,2306:127	1|0:31,27:58:99:870,0,923:127
10	32974874	.	A	AAATAGATAAATAC	1857.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs148671234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148671234" target="_blank">rs148671234</a>;ExAC.Info.AC=13833;ExAC.Info.AN=126616;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=11880;ExAC.Info.AC_Hom=881;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.44-23_44-22insAATAGATAAATAC;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.44-23_44-22insATAGATAAATACA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.44-23_44-22insATAGATAAATACA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32974874">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,190,2835:127	0|0:100,0:100:99:0,301,4474:127	0|1:32,19:51:99:952,0,1267:127
10	32974969	.	A	G	22050.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1762526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1762526" target="_blank">rs1762526</a>;ExAC.Info.AC=123686;ExAC.Info.AN=126664;ExAC.Info.AF=0.976;ExAC.Info.AC_Het=2265;ExAC.Info.AC_Hom=60618;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Gta;snpeff.Amino_Acid_Change=p.Ile39Val/c.115A>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.115A>G_p.Ile39Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.115A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:32974969">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2883,261,0:127	1|1:0,108:108:99:3701,324,0:127	1|1:0,95:95:99:3317,285,0:127
10	33014354	.	TTG	T	1901.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=186;MQ=70.05;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs138210257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138210257" target="_blank">rs138210257</a>;ExAC.Info.AC=1763;ExAC.Info.AN=18852;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=1500;ExAC.Info.AC_Hom=98;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.491-1307_491-1306delTG;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.491-1306_491-1305delGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.491-1306_491-1305delGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33014354">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,2540:127	0|0:67,0:67:99:0,202,2976:127	0|1:36,26:62:99:974,0,1416:127
10	33015782	.	G	A	2954.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=46;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs928701;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=928701" target="_blank">rs928701</a>;ExAC.Info.AC=125336;ExAC.Info.AN=125724;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=322;ExAC.Info.AC_Hom=58887;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.589+22G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.589+22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.589+22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33015782">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,17:17:51:541,51,0:38	1|1:0,16:16:48:504,48,0:38	1|1:0,13:13:39:466,39,0:38
10	33017782	.	C	T	1056.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10827116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10827116" target="_blank">rs10827116</a>;ExAC.Info.AC=13744;ExAC.Info.AN=126476;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=10757;ExAC.Info.AC_Hom=914;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.590-33C>T;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.590-33C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.590-33C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33017782">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1041:89	0|0:49,0:49:99:0,147,1797:89	0|1:12,21:33:99:547,0,353:89
10	33018351	.	G	C	7452.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1414548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1414548" target="_blank">rs1414548</a>;ExAC.Info.AC=123472;ExAC.Info.AN=126470;ExAC.Info.AF=0.976;ExAC.Info.AC_Het=2183;ExAC.Info.AC_Hom=60032;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acC;snpeff.Amino_Acid_Change=p.Thr264Thr/c.792G>C;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.792G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.792G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33018351">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1380,120,0:71	1|1:0,45:45:99:1576,135,0:71	1|1:0,24:24:72:764,72,0:71
10	33093858	.	TAC	T	4001.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs35054696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35054696" target="_blank">rs35054696</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.935-84_935-83delAC;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.827-64_827-63delAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.827-64_827-63delAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33093858">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,22:22:67:779,67,0:66	1|1:0,34:34:99:1109,101,0:66	1|0:5,5:10:99:149,0,146:66
10	33123774	.	T	C	5676.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11009107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11009107" target="_blank">rs11009107</a>;ExAC.Info.AC=48311;ExAC.Info.AN=126180;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=24826;ExAC.Info.AC_Hom=9938;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn407Asn/c.1221T>C;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1113T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.1113T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33123774">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,24:53:99:656,0,825:125	1|1:0,62:62:99:2162,186,0:125	0|0:42,0:42:99:0,126,1521:125
10	33123824	.	G	C	14524.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4448627;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4448627" target="_blank">rs4448627</a>;ExAC.Info.AC=125340;ExAC.Info.AN=126016;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=551;ExAC.Info.AC_Hom=55850;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1271G>C;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gCa;snpeff.Amino_Acid_Change=p.Gly424Ala/c.1271G>C;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1163G>C_p.Gly388Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.1163G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33123824">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2221,189,0:127	1|1:0,71:71:99:2572,213,0:127	1|1:0,53:53:99:1850,159,0:127
10	33137515	.	T	G	5543.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2488294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2488294" target="_blank">rs2488294</a>;ExAC.Info.AC=49358;ExAC.Info.AN=126580;ExAC.Info.AF=0.390;ExAC.Info.AC_Het=26905;ExAC.Info.AC_Hom=11075;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1694-9T>G;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1502-9T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.1502-9T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33137515">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,14:26:99:437,0,293:127	1|1:0,43:43:99:1740,129,0:127	0|0:59,0:59:99:0,177,2056:127
10	33137551	.	T	C	6210.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2504011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2504011" target="_blank">rs2504011</a>;ExAC.Info.AC=49502;ExAC.Info.AN=126644;ExAC.Info.AF=0.391;ExAC.Info.AC_Het=27013;ExAC.Info.AC_Hom=11184;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met574Thr/c.1721T>C;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.1529T>C_p.Met510Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.1529T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33137551">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,17:34:99:502,0,456:127	1|1:0,57:57:99:1901,171,0:127	0|0:77,0:77:99:0,231,2594:127
10	33143396	.	G	A	13493.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1418538;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1418538" target="_blank">rs1418538</a>;ExAC.Info.AC=125981;ExAC.Info.AN=126626;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=609;ExAC.Info.AC_Hom=62398;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val671Ile/c.2011G>A;snpeff.Amino_Acid_length=692;snpeff.Gene_Name=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000375025;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302316;SAVANT_GENE=C10orf68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf68" target="_blank">C10orf68</a>;SAVANT_INFO=+/315.2kb/23/2.7kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.1819G>A_p.Val607Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf68+c.1819G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33143396">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1782,153,0:127	1|1:0,77:77:99:2662,231,0:127	1|1:0,50:50:99:1789,150,0:127
10	33190567	.	C	A	3985.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2153875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2153875" target="_blank">rs2153875</a>;ExAC.Info.AC=85612;ExAC.Info.AN=126680;ExAC.Info.AF=0.676;ExAC.Info.AC_Het=24521;ExAC.Info.AC_Hom=30456;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2448-4G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396033;SAVANT_GENE=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;SAVANT_INFO=-/57.6kb/16/3.8kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2332-4G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGB1+c.2332-4G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33190567">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,11:32:99:266,0,626:113	1|1:0,48:48:99:1580,144,0:113	0|0:38,0:38:99:0,114,1317:113
10	33209266	.	G	T	47766.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=773;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2230396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230396" target="_blank">rs2230396</a>;ExAC.Info.AC=108632;ExAC.Info.AN=126694;ExAC.Info.AF=0.857;ExAC.Info.AC_Het=14611;ExAC.Info.AC_Hom=46966;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" 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target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176G>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly392Gly/c.1176C>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396033;SAVANT_GENE=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;SAVANT_INFO=-/57.6kb/16/3.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1176C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGB1+c.1176C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33209266">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,226:226:99:7410,679,0:127	1|1:0,303:303:99:10319,910,0:127	1|0:127,117:244:99:3380,0,3689:127
10	33211227	.	T	G	2186.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2230395;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230395" target="_blank">rs2230395</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=17077;ExAC.Info.AN=126694;ExAC.Info.AF=0.135;ExAC.Info.AC_Het=14137;ExAC.Info.AC_Hom=1463;snpeff.Effect=sequence_feature[metal_ion-binding_site:Calcium_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>G;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcC;snpeff.Amino_Acid_Change=p.Ala362Ala/c.1086A>C;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396033;SAVANT_GENE=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;SAVANT_INFO=-/57.6kb/16/3.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1086A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGB1+c.1086A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33211227">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,234,2508:127	0|0:96,0:96:99:0,288,3245:127	0|1:40,38:78:99:1112,0,1133:127
10	33217110	.	G	A	8984.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=989;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2230394;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230394" target="_blank">rs2230394</a>;ExAC.Info.AC=17383;ExAC.Info.AN=126702;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=14302;ExAC.Info.AC_Hom=1536;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr153Tyr/c.459C>T;snpeff.Amino_Acid_length=825;snpeff.Gene_Name=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396033;SAVANT_GENE=ITGB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB1" target="_blank">ITGB1</a>;SAVANT_INFO=-/57.6kb/16/3.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.459C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITGB1+c.459C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33217110">View</a>	GT:AD:DP:GQ:PL:TP	0|0:304,0:304:99:0,913,10594:127	0|0:391,0:391:99:0,1174,13763:127	0|1:142,152:294:99:4511,0,4265:127
10	33469181	.	A	G	9683.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1048804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048804" target="_blank">rs1048804</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37647;ExAC.Info.AN=126704;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=23817;ExAC.Info.AC_Hom=6913;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser865Ser/c.2595T>C;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2595T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.2595T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33469181">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,75:129:99:2389,0,1504:127	0|0:174,1:175:99:0,515,5925:127	1|0:83,59:142:99:1710,0,2448:127
10	33475282	.	C	T	7129.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2228638;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228638" target="_blank">rs2228638</a>;ExAC.Info.AC=14703;ExAC.Info.AN=126704;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=12567;ExAC.Info.AC_Hom=1057;snpeff.Effect=sequence_feature[domain:MAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2197C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val733Ile/c.2197G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2197G>A_p.Val733Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.2197G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33475282">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,44:68:99:1211,0,620:127	1|0:34,62:96:99:1744,0,955:127	0|0:86,0:86:99:0,257,2866:127
10	33495267	.	C	T	14342.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=346;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11812166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11812166" target="_blank">rs11812166</a>;ExAC.Info.AC=35772;ExAC.Info.AN=117080;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=22908;ExAC.Info.AC_Hom=6216;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1759+1233G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1759+1233G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.1759+1233G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33495267">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3037,285,0:127	1|0:77,62:139:99:1611,0,2211:127	1|0:70,42:112:99:1037,0,1955:127
10	33495304	.	A	G	13874.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11815912;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11815912" target="_blank">rs11815912</a>;ExAC.Info.AC=35326;ExAC.Info.AN=116920;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=22925;ExAC.Info.AC_Hom=5699;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1759+1196T>C;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1759+1196T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.1759+1196T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33495304">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3098,288,0:127	1|0:90,59:149:99:1498,0,2340:127	1|0:79,42:121:99:979,0,3800:127
10	33495306	.	A	G	25976.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2474715;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2474715" target="_blank">rs2474715</a>;ExAC.Info.AC=56167;ExAC.Info.AN=116766;ExAC.Info.AF=0.481;ExAC.Info.AC_Het=27952;ExAC.Info.AC_Hom=13356;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1759+1194T>C;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1759+1194T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.1759+1194T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33495306">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:4299,289,0:127	1|1:0,146:146:99:5368,445,0:127	1|0:78,42:120:99:1529,0,2065:127
10	33495333	.	C	A	11691.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11812181;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11812181" target="_blank">rs11812181</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1759+1167G>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1760C>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1759+1167G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.1759+1167G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33495333">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2683,237,0:127	1|0:66,49:115:99:1347,0,1847:127	1|0:66,34:100:99:820,0,1824:127
10	33496681	.	A	AAG	819.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=49;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs74656391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74656391" target="_blank">rs74656391</a>;ExAC.Info.AC=20691;ExAC.Info.AN=126676;ExAC.Info.AF=0.163;ExAC.Info.AC_Het=17060;ExAC.Info.AC_Hom=1797;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1615-37_1615-38insCT;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615_1616insAG;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1615-38_1615-37insCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.1615-38_1615-37insCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33496681">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,812:44	0|1:5,10:15:99:433,0,159:44	0|0:15,0:15:45:0,45,639:44
10	33502240	.	C	T	8304.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2070303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070303" target="_blank">rs2070303</a>;ExAC.Info.AC=21731;ExAC.Info.AN=126696;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=16242;ExAC.Info.AC_Hom=2688;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.289C>T;snpeff.Gene_Name=RP11-342D11.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451530;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1614+74G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" 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target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1615C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342D112" target="_blank">RP11-342D112</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1614+74G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.1614+74G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33502240">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,50:93:99:1480,0,1191:127	0|0:132,0:132:99:0,396,4741:127	1|0:50,55:105:99:1715,0,1393:127
10	33510663	.	G	A	24509.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=502;MQ=69.96;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2229935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229935" target="_blank">rs2229935</a>;ExAC.Info.AC=39798;ExAC.Info.AN=126702;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=25519;ExAC.Info.AC_Hom=7132;snpeff.Effect=sequence_feature[domain:F5/8_type_C_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1266G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1266G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1266G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1266G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" 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target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1266G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1266G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" 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target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1266G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1266G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1266G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1266G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr422Tyr/c.1266C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1266C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.1266C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33510663">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,144:144:99:4916,432,0:127	1|0:95,86:181:99:2498,0,2551:127	1|0:86,91:177:99:2642,0,2305:127
10	33510768	.	G	A	29272.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=570;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2229934;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229934" target="_blank">rs2229934</a>;ExAC.Info.AC=39796;ExAC.Info.AN=126704;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=25520;ExAC.Info.AC_Hom=7133;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro387Pro/c.1161C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1161C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.1161C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33510768">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,178:178:99:5761,535,0:127	1|0:100,99:199:99:2895,0,2957:127	1|0:97,96:193:99:2724,0,2792:127
10	33552518	.	A	C	11847.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2070298;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070298" target="_blank">rs2070298</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.658+56T>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659A>C;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659A>C;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659A>C;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659A>C;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659A>C;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659A>C;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659A>C;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" 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target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.658+56T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.658+56T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33552518">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,27:53:99:1052,0,1555:127	1|1:0,78:78:99:3545,241,0:127	0|1:28,26:54:99:1031,0,1595:127
10	33552522	.	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target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.658+52C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.658+52C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33552522">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,27:55:99:1089,0,1592:127	1|1:0,80:80:99:3584,244,0:127	0|1:28,27:55:99:1031,0,1595:127
10	33552695	.	C	T	7893.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2070296;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070296" target="_blank">rs2070296</a>;ExAC.Info.AC=25817;ExAC.Info.AN=126704;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=19563;ExAC.Info.AC_Hom=3127;snpeff.Effect=sequence_feature[domain:CUB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537C>T;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val179Val/c.537G>A;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.537G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.537G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33552695">View</a>	GT:AD:DP:GQ:PL:TP	0|1:66,63:129:99:1755,0,1961:127	1|0:63,57:120:99:1506,0,1805:127	0|0:107,1:108:99:0,287,3849:127
10	33552696	.	A	G	33442.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7079053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7079053" target="_blank">rs7079053</a>;ExAC.Info.AC=126685;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=19;ExAC.Info.AC_Hom=63331;snpeff.Effect=sequence_feature[domain:CUB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CUB_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.536A>G;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val179Ala/c.536T>C;snpeff.Amino_Acid_length=923;snpeff.Gene_Name=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374867;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374867;SAVANT_GENE=NRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRP1" target="_blank">NRP1</a>;SAVANT_INFO=-/157.4kb/17/5.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.536T>C_p.Val179Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRP1+c.536T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:33552696">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,128:128:99:5022,385,0:127	1|1:0,119:119:99:4610,357,0:127	1|1:0,110:110:99:3888,331,0:127
10	34408745	.	A	C	5658.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3004928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3004928" target="_blank">rs3004928</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3550-77T>G;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374789;SAVANT_GENE=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;SAVANT_INFO=-/705.8kb/25/6.0kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3550-77T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARD3+c.3550-77T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:34408745">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,29:58:99:824,0,720:127	1|1:0,50:50:99:1872,150,0:127	0|0:60,0:60:99:0,180,1919:127
10	34420607	.	G	A	5441.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs970166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=970166" target="_blank">rs970166</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3429-96C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374789;SAVANT_GENE=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;SAVANT_INFO=-/705.8kb/25/6.0kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3429-96C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARD3+c.3429-96C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:34420607">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,15:53:99:381,0,1225:127	0|0:82,0:82:99:0,246,3208:127	1|1:0,54:54:99:1895,162,0:127
10	34620220	.	C	T	5200.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3781128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3781128" target="_blank">rs3781128</a>;ExAC.Info.AC=62767;ExAC.Info.AN=126696;ExAC.Info.AF=0.495;ExAC.Info.AC_Het=30724;ExAC.Info.AC_Hom=15988;snpeff.Effect=sequence_feature[interacting_region:Interacts_with_PRKCI_and_PRKCZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2667C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interacts_with_PRKCI_and_PRKCZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2667C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interacts_with_PRKCI_and_PRKCZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2667C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interacts_with_PRKCI_and_PRKCZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2667C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interacts_with_PRKCI_and_PRKCZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2667C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser889Ser/c.2667G>A;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374789;SAVANT_GENE=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;SAVANT_INFO=-/705.8kb/25/6.0kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2667G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARD3+c.2667G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:34620220">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,2974:127	0|1:48,53:101:99:1586,0,1398:127	0|1:43,37:80:99:1034,0,1247:127
10	34666864	.	C	T	3623.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10740890;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740890" target="_blank">rs10740890</a>;ExAC.Info.AC=65038;ExAC.Info.AN=126638;ExAC.Info.AF=0.514;ExAC.Info.AC_Het=29834;ExAC.Info.AC_Hom=17390;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1539+31G>A;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1540C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1540C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1540C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1540C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1540C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374789;SAVANT_GENE=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;SAVANT_INFO=-/705.8kb/25/6.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1539+31G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARD3+c.1539+31G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:34666864">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1590:127	0|1:31,36:67:99:1058,0,849:127	0|1:32,30:62:99:774,0,870:127
10	34688287	.	G	A	24931.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2796011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2796011" target="_blank">rs2796011</a>;ExAC.Info.AC=126577;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=122;ExAC.Info.AC_Hom=63206;snpeff.Effect=sequence_feature[domain:PDZ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.861G>A;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.861G>A;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.861G>A;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His287His/c.861C>T;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374789;SAVANT_GENE=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;SAVANT_INFO=-/705.8kb/25/6.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.861C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARD3+c.861C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:34688287">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2673,237,0:127	1|1:0,124:124:99:4131,373,0:127	1|1:0,105:105:99:3597,316,0:127
10	34985197	.	C	CA	8714.55	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs5784425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5784425" target="_blank">rs5784425</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.222+49_222+48insT;snpeff.Amino_Acid_length=1356;snpeff.Gene_Name=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374789;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000374789;SAVANT_GENE=PARD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARD3" target="_blank">PARD3</a>;SAVANT_INFO=-/705.8kb/25/6.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.222+48dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARD3+c.222+48dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:34985197">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,55:118:99:990,0,1166:13	0/1:57,52:109:99:958,0,1073:13	0/1:13,93:106:13:2053,0,13:13
10	35302705	.	C	T	1014.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12830;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12830" target="_blank">rs12830</a>;ExAC.Info.AC=38681;ExAC.Info.AN=126320;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=24036;ExAC.Info.AC_Hom=5102;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser656Ser/c.1968G>A;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537177;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537177;SAVANT_GENE=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;SAVANT_INFO=-/64.0kb/21/2.4kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.1968G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUL2+c.1968G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35302705">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1312:115	0|1:34,17:51:99:526,0,1021:115	0|0:39,0:39:99:0,117,1366:115
10	35314130	.	TA	T	196.6	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=20;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/0;NA12892_GT=./0;NA12891_GT=./1;dbSNP139.ID=rs58779572;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58779572" target="_blank">rs58779572</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1675-5delT;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537177;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1675delT;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537177;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000537177;SAVANT_GENE=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;SAVANT_INFO=-/64.0kb/21/2.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1675-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUL2+c.1675-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35314130">View</a>	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,123	./1:1,3:5:1:52,1,80	./0:6,0:10:50:50,82,260
10	35314130	.	TA	TAA	196.6	PASS	InheritancePattern=notInChild;AC=2;AF=0.400;AN=5;DP=20;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/0;NA12892_GT=0/1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1675-5_1675-6insT;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537177;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1675_1676insT;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537177;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000537177;SAVANT_GENE=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;SAVANT_INFO=-/64.0kb/21/2.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1675-5dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUL2+c.1675-5dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35314130">View</a>	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,122	./1:1,1:5:1:52,43,83	0/1:6,4:10:50:50,0,118
10	35320355	.	T	C	2503.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17582954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17582954" target="_blank">rs17582954</a>;ExAC.Info.AC=19639;ExAC.Info.AN=126650;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=16064;ExAC.Info.AC_Hom=1741;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1357-41A>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537177;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537177;SAVANT_GENE=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;SAVANT_INFO=-/64.0kb/21/2.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1357-41A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUL2+c.1357-41A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35320355">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,322,3942:127	0|1:62,41:103:99:1269,0,1993:127	0|0:105,0:105:99:0,316,3878:127
10	35320383	.	C	T	3806.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3740083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740083" target="_blank">rs3740083</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1356+36G>A;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537177;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537177;SAVANT_GENE=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;SAVANT_INFO=-/64.0kb/21/2.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1356+36G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUL2+c.1356+36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35320383">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,379,4544:127	0|1:78,62:140:99:1922,0,2495:127	0|0:131,0:131:99:0,394,4922:127
10	35321515	.	A	C	3149.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=336;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1168-93T>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537177;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537177;SAVANT_GENE=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;SAVANT_INFO=-/64.0kb/21/2.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1168-93T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUL2+c.1168-93T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35321515">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,50:101:99:384,0,1132:127	0/1:64,59:123:99:423,0,1436:127	0/1:43,69:112:99:636,0,923:127
10	35324076	.	A	G	15297.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2244174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2244174" target="_blank">rs2244174</a>;ExAC.Info.AC=126544;ExAC.Info.AN=126700;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=153;ExAC.Info.AC_Hom=63045;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1059+24T>C;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537177;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537177;SAVANT_GENE=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;SAVANT_INFO=-/64.0kb/21/2.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1059+24T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUL2+c.1059+24T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35324076">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2212,186,0:127	1|1:0,62:62:99:2313,187,0:127	1|1:0,66:66:99:2341,198,0:127
10	35338699	.	G	A	6344.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=587;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7900480;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7900480" target="_blank">rs7900480</a>;ExAC.Info.AC=42480;ExAC.Info.AN=126594;ExAC.Info.AF=0.336;ExAC.Info.AC_Het=27065;ExAC.Info.AC_Hom=6859;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.481-6C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537177;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537177;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537177;SAVANT_GENE=CUL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUL2" target="_blank">CUL2</a>;SAVANT_INFO=-/64.0kb/21/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.481-6C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUL2+c.481-6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35338699">View</a>	GT:AD:DP:GQ:PL:TP	0|0:200,0:200:99:0,600,6442:127	0|1:102,117:219:99:3191,0,2758:127	0|0:168,0:168:99:0,505,5600:127
10	35426755	.	A	G	3514.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17499247;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17499247" target="_blank">rs17499247</a>;ExAC.Info.AC=42847;ExAC.Info.AN=126672;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=28038;ExAC.Info.AC_Hom=7321;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=9;snpeff.Amino_Acid_Change=c.-9A>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=CREM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREM" target="_blank">CREM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395895;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=CREM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREM" target="_blank">CREM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395895;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345491;SAVANT_GENE=CREM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREM" target="_blank">CREM</a>;SAVANT_INFO=+/85.5kb/8/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-9A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CREM+c.-9A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35426755">View</a>	GT:AD:DP:GQ:PL:TP	0|0:102,0:102:99:0,306,3131:127	0|1:59,61:120:99:1776,0,1463:127	0|0:100,0:100:99:0,300,3195:127
10	35484949	.	T	G	3244.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1057108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1057108" target="_blank">rs1057108</a>;ExAC.Info.AC=42887;ExAC.Info.AN=126694;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=28090;ExAC.Info.AC_Hom=7312;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.746-5430T>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=CREM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREM" target="_blank">CREM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395895;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345491;SAVANT_GENE=CREM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREM" target="_blank">CREM</a>;SAVANT_INFO=+/85.5kb/8/2.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.598+7633T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CREM+c.598+7633T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35484949">View</a>	GT:AD:DP:GQ:PL:TP	0|0:102,0:102:99:0,307,3368:127	0|1:60,60:120:99:1641,0,1736:127	0|0:91,0:91:99:0,274,3131:127
10	35772402	.	G	A	3768.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3802509;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802509" target="_blank">rs3802509</a>;ExAC.Info.AC=46224;ExAC.Info.AN=126704;ExAC.Info.AF=0.365;ExAC.Info.AC_Het=28150;ExAC.Info.AC_Hom=9012;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr75Thr/c.225G>A;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=CCNY;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNY" target="_blank">CCNY</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374704;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374704;SAVANT_GENE=CCNY;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNY" target="_blank">CCNY</a>;SAVANT_INFO=+/235.1kb/10/4.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.225G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNY+c.225G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35772402">View</a>	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,369,4093:127	0|0:159,0:159:99:0,477,5123:127	0|1:59,66:125:99:1903,0,1572:127
10	35814767	.	A	G	556.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41276106;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41276106" target="_blank">rs41276106</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.366-125A>G;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=CCNY;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNY" target="_blank">CCNY</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374704;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374704;SAVANT_GENE=CCNY;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNY" target="_blank">CCNY</a>;SAVANT_INFO=+/235.1kb/10/4.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.366-125A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNY+c.366-125A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35814767">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1430:125	0|0:46,0:46:99:0,138,1647:125	0|1:28,12:40:99:297,0,827:125
10	35894666	.	A	G	10383.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs627267;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=627267" target="_blank">rs627267</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64+107A>G;snpeff.Amino_Acid_length=370;snpeff.Gene_Name=GJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJD4" target="_blank">GJD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321660;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65A>G;snpeff.Amino_Acid_length=370;snpeff.Gene_Name=GJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJD4" target="_blank">GJD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321660;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65A>G;snpeff.Amino_Acid_length=370;snpeff.Gene_Name=GJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJD4" target="_blank">GJD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321660;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321660;SAVANT_GENE=GJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJD4" target="_blank">GJD4</a>;SAVANT_INFO=+/3.5kb/2/1.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.64+107A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJD4+c.64+107A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35894666">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1388,120,0:119	1|1:0,46:46:99:1528,138,0:119	1|1:0,40:40:99:1332,120,0:119
10	35896957	.	G	A	5397.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs595652;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=595652" target="_blank">rs595652</a>;ExAC.Info.AC=30151;ExAC.Info.AN=126496;ExAC.Info.AF=0.238;ExAC.Info.AC_Het=21582;ExAC.Info.AC_Hom=3922;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.125C>T;snpeff.Gene_Name=RP11-425A6.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-425A65" target="_blank">RP11-425A65</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609313;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=370;snpeff.Gene_Name=GJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-425A65" target="_blank">RP11-425A65</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321660;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys172Lys/c.516G>A;snpeff.Amino_Acid_length=370;snpeff.Gene_Name=GJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-425A65" target="_blank">RP11-425A65</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321660;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321660;SAVANT_GENE=GJD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GJD4" target="_blank">GJD4</a>;SAVANT_INFO=+/3.5kb/2/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.516G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GJD4+c.516G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:35896957">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,0:95:99:0,285,3170:127	0|1:52,51:103:99:1523,0,1585:127	0|1:54,42:96:99:1195,0,1618:127
10	36812251	.	C	T	16756.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=762;MQ=69.63;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41276114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41276114" target="_blank">rs41276114</a>;ExAC.Info.AC=4311;ExAC.Info.AN=126702;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=4014;ExAC.Info.AC_Hom=147;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys304Lys/c.912G>A;snpeff.Amino_Acid_length=472;snpeff.Gene_Name=NAMPTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAMPTL" target="_blank">NAMPTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440465;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000440465;SAVANT_GENE=NAMPTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAMPTL" target="_blank">NAMPTL</a>;SAVANT_INFO=-/2.5kb/1/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.912G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAMPTL+c.912G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:36812251">View</a>	GT:AD:DP:GQ:PL:TP	0|1:118,98:216:99:2604,0,3466:127	1|0:145,151:296:99:4188,0,4070:127	0|0:249,1:250:99:0,712,8815:127
10	36812362	.	C	T	23555.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=691;MQ=67.03;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2503084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2503084" target="_blank">rs2503084</a>;ExAC.Info.AC=68903;ExAC.Info.AN=126702;ExAC.Info.AF=0.544;ExAC.Info.AC_Het=32398;ExAC.Info.AC_Hom=17486;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala267Ala/c.801G>A;snpeff.Amino_Acid_length=472;snpeff.Gene_Name=NAMPTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAMPTL" target="_blank">NAMPTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440465;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000440465;SAVANT_GENE=NAMPTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAMPTL" target="_blank">NAMPTL</a>;SAVANT_INFO=-/2.5kb/1/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.801G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAMPTL+c.801G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:36812362">View</a>	GT:AD:DP:GQ:PL:TP	0/1:114,113:227:99:3183,0,3399:127	0/1:105,135:240:99:4255,0,2987:127	0/1:116,108:224:99:3281,0,3483:127
10	36812879	.	A	G	14069.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=632;MQ=69.83;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41276116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41276116" target="_blank">rs41276116</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=8023;ExAC.Info.AN=126702;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=7385;ExAC.Info.AC_Hom=319;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile95Thr/c.284T>C;snpeff.Amino_Acid_length=472;snpeff.Gene_Name=NAMPTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAMPTL" target="_blank">NAMPTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440465;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000440465;SAVANT_GENE=NAMPTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAMPTL" target="_blank">NAMPTL</a>;SAVANT_INFO=-/2.5kb/1/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.284T>C_p.Ile95Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAMPTL+c.284T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:36812879">View</a>	GT:AD:DP:GQ:PL:TP	1|0:98,92:190:99:2736,0,2570:127	0|0:241,0:241:99:0,724,7912:127	1|0:95,106:201:99:3079,0,2552:127
10	36813180	.	T	A	9257.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=273;MQ=69.95;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2503083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2503083" target="_blank">rs2503083</a>;ExAC.Info.AC=70709;ExAC.Info.AN=126184;ExAC.Info.AF=0.560;ExAC.Info.AC_Het=29231;ExAC.Info.AC_Hom=20122;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2503083" target="_blank">rs2503083</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:36813180">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,25:67:99:676,0,1282:127	0/1:58,65:123:99:1902,0,1599:127	0/1:47,36:83:99:1068,0,1312:127
10	36813198	.	A	G	17390.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=203;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2503082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2503082" target="_blank">rs2503082</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2503082" target="_blank">rs2503082</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:36813198">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1702,138,0:127	1|1:0,96:96:99:3421,289,0:127	1|1:0,61:61:99:2210,183,0:127
10	37441072	.	T	G	7887.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1148257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1148257" target="_blank">rs1148257</a>;ExAC.Info.AC=44844;ExAC.Info.AN=125074;ExAC.Info.AF=0.359;ExAC.Info.AC_Het=27351;ExAC.Info.AC_Hom=8632;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1539+23T>G;snpeff.Amino_Acid_length=1460;snpeff.Gene_Name=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374660;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361713;SAVANT_GENE=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;SAVANT_INFO=+/106.7kb/36/4.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1539+23T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD30A+c.1539+23T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:37441072">View</a>	GT:AD:DP:GQ:PL:TP	0|0:130,0:130:99:0,390,4255:127	0|1:88,74:162:99:2085,0,2502:127	0|1:65,62:127:99:1878,0,1820:127
10	37488689	.	G	C	6148.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1209750;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1209750" target="_blank">rs1209750</a>;ExAC.Info.AC=62902;ExAC.Info.AN=124956;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=28971;ExAC.Info.AC_Hom=16281;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaG/aaC;snpeff.Amino_Acid_Change=p.Lys980Asn/c.2940G>C;snpeff.Amino_Acid_length=1460;snpeff.Gene_Name=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374660;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361713;SAVANT_GENE=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;SAVANT_INFO=+/106.7kb/36/4.4kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.2583G>C_p.Lys861Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD30A+c.2583G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:37488689">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,0:111:99:0,334,3862:127	0|1:79,48:127:99:1257,0,2240:127	0|1:50,67:117:99:1836,0,1300:127
10	37505141	.	G	A	1942.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1200876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1200876" target="_blank">rs1200876</a>;ExAC.Info.AC=25136;ExAC.Info.AN=125052;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=19260;ExAC.Info.AC_Hom=2880;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val1031Ile/c.3091G>A;snpeff.Amino_Acid_length=1460;snpeff.Gene_Name=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374660;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361713;SAVANT_GENE=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;SAVANT_INFO=+/106.7kb/36/4.4kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.2734G>A_p.Val912Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD30A+c.2734G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:37505141">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2095:127	0|1:52,37:89:99:990,0,1556:127	0|0:73,0:73:99:0,219,2721:127
10	37505159	.	G	A	2600.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34552277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34552277" target="_blank">rs34552277</a>;ExAC.Info.AC=25732;ExAC.Info.AN=125064;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=19533;ExAC.Info.AC_Hom=3050;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala1037Thr/c.3109G>A;snpeff.Amino_Acid_length=1460;snpeff.Gene_Name=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374660;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361713;SAVANT_GENE=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;SAVANT_INFO=+/106.7kb/36/4.4kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.2752G>A_p.Ala918Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD30A+c.2752G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:37505159">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,232,4061:127	0|0:97,0:97:99:0,301,5168:127	0|1:42,35:77:99:1319,0,2113:127
10	37505179	.	T	C	2992.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs57914746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57914746" target="_blank">rs57914746</a>;ExAC.Info.AC=18458;ExAC.Info.AN=125088;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=15023;ExAC.Info.AC_Hom=1683;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp1043Asp/c.3129T>C;snpeff.Amino_Acid_length=1460;snpeff.Gene_Name=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374660;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361713;SAVANT_GENE=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;SAVANT_INFO=+/106.7kb/36/4.4kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.2772T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD30A+c.2772T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:37505179">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,247,4184:127	0|0:100,0:100:99:0,310,5310:127	0|1:39,41:80:99:1515,0,2070:127
10	37505192	.	C	T	2182.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1200875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1200875" target="_blank">rs1200875</a>;ExAC.Info.AC=25188;ExAC.Info.AN=125080;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=19304;ExAC.Info.AC_Hom=2890;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg1048Cys/c.3142C>T;snpeff.Amino_Acid_length=1460;snpeff.Gene_Name=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374660;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361713;SAVANT_GENE=ANKRD30A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD30A" target="_blank">ANKRD30A</a>;SAVANT_INFO=+/106.7kb/36/4.4kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.2785C>T_p.Arg929Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD30A+c.2785C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:37505192">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2646:127	0|1:59,42:101:99:1110,0,1715:127	0|0:74,0:74:99:0,226,3007:127
10	38344700	.	C	G	13964.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=511;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2505232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2505232" target="_blank">rs2505232</a>;ExAC.Info.AC=56396;ExAC.Info.AN=126704;ExAC.Info.AF=0.445;ExAC.Info.AC_Het=30184;ExAC.Info.AC_Hom=13098;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln556Glu/c.1666C>G;snpeff.Amino_Acid_length=817;snpeff.Gene_Name=ZNF33A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF33A" target="_blank">ZNF33A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000432900;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374618;SAVANT_GENE=ZNF33A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF33A" target="_blank">ZNF33A</a>;SAVANT_INFO=+/49.4kb/5/6.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1648C>G_p.Gln550Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF33A+c.1648C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:38344700">View</a>	GT:AD:DP:GQ:PL:TP	0|1:80,114:194:99:3304,0,2049:127	1|0:107,101:208:99:2954,0,3086:127	0|0:109,0:109:99:0,327,3984:127
10	38385441	.	G	A	14374.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=416;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2474573;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2474573" target="_blank">rs2474573</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-44-61G>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=ZNF37A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF37A" target="_blank">ZNF37A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361085;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000351773;SAVANT_GENE=ZNF37A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF37A" target="_blank">ZNF37A</a>;SAVANT_INFO=+/29.0kb/8/7.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-105G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF37A+c.-105G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:38385441">View</a>	GT:AD:DP:GQ:PL:TP	0/1:57,60:117:99:1583,0,1598:127	0/1:62,91:153:99:2665,0,1683:127	0/1:80,66:146:99:1762,0,2234:127
10	38599101	.	C	CT	5595.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=184;MQ=48.88;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs34686283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34686283" target="_blank">rs34686283</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271_272insT;snpeff.Gene_Name=RP11-672F9.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-672F91" target="_blank">RP11-672F91</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000450980;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-672F91" target="_blank">RP11-672F91</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-672F91+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:38599101">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,20:66:99:514,0,1399:127	0/1:29,34:63:99:996,0,846:127	0/1:26,29:55:99:863,0,762:127
10	38645343	.	C	T	1898.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=223;MQ=57.99;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs75687299;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75687299" target="_blank">rs75687299</a>;ExAC.Info.AC=42053;ExAC.Info.AN=126654;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=39590;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.36C>T;snpeff.Gene_Name=HSD17B7P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7P2" target="_blank">HSD17B7P2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494540;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7P2" target="_blank">HSD17B7P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B7P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:38645343">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,11:52:99:146,0,1219:127	0/1:70,27:97:99:407,0,2117:127	0/1:54,20:74:99:353,0,1565:127
10	38645403	.	T	C	11656.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=295;MQ=64.05;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs72639552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72639552" target="_blank">rs72639552</a>;ExAC.Info.AC=60827;ExAC.Info.AN=126610;ExAC.Info.AF=0.480;ExAC.Info.AC_Het=29779;ExAC.Info.AC_Hom=14046;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96T>C;snpeff.Gene_Name=HSD17B7P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7P2" target="_blank">HSD17B7P2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494540;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7P2" target="_blank">HSD17B7P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B7P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:38645403">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,44:81:99:1214,0,953:127	0/1:66,56:122:99:1434,0,1672:127	0/1:45,47:92:99:1328,0,1234:127
10	38647463	.	A	AT	6080.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=254;MQ=69.77;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs35215821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35215821" target="_blank">rs35215821</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.314+21_314+22insT;snpeff.Gene_Name=HSD17B7P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7P2" target="_blank">HSD17B7P2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494540;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B7P2" target="_blank">HSD17B7P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B7P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:38647463">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,32:71:99:687,0,887:127	0/1:56,35:91:99:715,0,1284:127	0/1:37,55:92:99:1238,0,756:127
10	38740353	.	T	C	594.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=27;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2754385;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2754385" target="_blank">rs2754385</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2754385" target="_blank">rs2754385</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:38740353">View</a>	GT:AD:DP:GQ:PL:TP	0/1:6,3:9:90:90,0,146:85	0/1:6,4:10:96:96,0,172:85	0/1:5,3:8:88:88,0,170:85
10	38740382	.	T	C	537.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=23;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2754386;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2754386" target="_blank">rs2754386</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2754386" target="_blank">rs2754386</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:38740382">View</a>	GT:AD:DP:GQ:PL:TP	0/1:6,3:9:89:89,0,152:66	0/1:5,3:8:67:67,0,139:66	0/1:3,3:6:99:100,0,101:66
10	38894500	.	T	C	2697.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=65;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3970150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3970150" target="_blank">rs3970150</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3970150" target="_blank">rs3970150</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:38894500">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,5:12:99:164,0,224:127	0/1:13,14:27:99:445,0,411:127	0/1:11,15:26:99:477,0,319:127
10	39011323	.	G	A	259.66	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=114;MQ=48.67;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61837111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61837111" target="_blank">rs61837111</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.168+63G>A;snpeff.Gene_Name=CHEK2P5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHEK2P5" target="_blank">CHEK2P5</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000423877;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHEK2P5" target="_blank">CHEK2P5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHEK2P5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:39011323">View</a>	GT:AD:DP:GQ:PL:TP	0|0:23,2:25:15:0,15,800:15	0|1:45,10:55:99:116,0,1535:15	0|0:32,2:34:47:0,47,1076:15
10	42905510	.	A	C	19704.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2419684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2419684" target="_blank">rs2419684</a>;ExAC.Info.AC=19044;ExAC.Info.AN=20906;ExAC.Info.AF=0.911;ExAC.Info.AC_Het=1412;ExAC.Info.AC_Hom=7618;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1417T>G;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNYL2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:42905510">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2766,240,0:127	1|1:0,105:105:99:3879,315,0:127	1|1:0,61:61:99:2174,183,0:127
10	42907201	.	G	A	25291.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=626;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2505860;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2505860" target="_blank">rs2505860</a>;ExAC.Info.AC=9489;ExAC.Info.AN=23046;ExAC.Info.AF=0.412;ExAC.Info.AC_Het=4712;ExAC.Info.AC_Hom=2131;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1231C>T;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426433;SAVANT_GENE=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;SAVANT_INFO=-/44.3kb/10/1.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.921C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNYL2+c.921C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:42907201">View</a>	GT:AD:DP:GQ:PL:TP	1|0:119,115:234:99:3092,0,3103:127	0|1:121,110:231:99:3085,0,3390:127	1|1:0,161:161:99:5481,484,0:127
10	42907260	.	T	C	18840.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2505861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2505861" target="_blank">rs2505861</a>;ExAC.Info.AC=9479;ExAC.Info.AN=22936;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=4427;ExAC.Info.AC_Hom=2061;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1172A>G;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426433;SAVANT_GENE=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;SAVANT_INFO=-/44.3kb/10/1.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.862A>G_p.Ile288Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNYL2+c.862A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:42907260">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,73:147:99:2028,0,2135:127	0|1:85,78:163:99:2072,0,2489:127	1|1:0,136:136:99:4431,409,0:127
10	42920832	.	G	A	8868.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2505872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2505872" target="_blank">rs2505872</a>;ExAC.Info.AC=9704;ExAC.Info.AN=23498;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=4334;ExAC.Info.AC_Hom=2012;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.889C>T;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426433;SAVANT_GENE=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;SAVANT_INFO=-/44.3kb/10/1.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.579C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNYL2+c.579C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:42920832">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,35:77:99:883,0,1180:127	0|1:41,45:86:99:1158,0,1106:127	1|1:0,54:54:99:1740,162,0:127
10	42920884	.	C	T	7349.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2489720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2489720" target="_blank">rs2489720</a>;ExAC.Info.AC=8811;ExAC.Info.AN=22560;ExAC.Info.AF=0.391;ExAC.Info.AC_Het=3751;ExAC.Info.AC_Hom=1549;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.837G>A;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.837G>A;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426433;SAVANT_GENE=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;SAVANT_INFO=-/44.3kb/10/1.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.527G>A_p.Arg176Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNYL2+c.527G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:42920884">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,24:45:99:659,0,600:116	0|1:31,35:66:99:1073,0,863:116	1|1:0,39:39:99:1435,117,0:116
10	42924560	.	TCACCTTTGCTTGATATGATAATATAGTGCCAAGG	T	3951.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=290;MQ=68.65;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs6143878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6143878" target="_blank">rs6143878</a>;ExAC.Info.AC=17913;ExAC.Info.AN=119444;ExAC.Info.AF=0.150;ExAC.Info.AC_Het=7333;ExAC.Info.AC_Hom=1718;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.805_838delCCTTGGCACTATATTATCATATCAAGCAAAGGTG;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.835+30_835+3delCCTTGGCACTATATTATCATATCAAGCAAAGGTG;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.805_838delCCTTGGCACTATATTATCATATCAAGCAAAGGTG;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.805_838delCCTTGGCACTATATTATCATATCAAGCAAAGGTG;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000426433;SAVANT_GENE=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;SAVANT_INFO=-/44.3kb/10/1.1kb;SAVANT_LOC=Ex5-In5/6;SAVANT_HGVS=c.438_468+3del34;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=ESS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNYL2+c.438_468+3del34+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:42924560">View</a>	GT:AD:DP:GQ:PL:TP	1|0:100,23:123:99:395,0,6552:58	0|0:120,0:120:99:0,360,7730:58	1|1:1,46:47:58:1576,58,0:58
10	42924561	.	CACCTTTGCTTGATATGATAATATAGTGCCAAGGT	C	831.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=291;MQ=68.66;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ExAC.Info.AC=1673;ExAC.Info.AN=94196;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=987;ExAC.Info.AC_Hom=38;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.804_837delACCTTGGCACTATATTATCATATCAAGCAAAGGT;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.835+31_835+2delACCTTGGCACTATATTATCATATCAAGCAAAGGT;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.804_837delACCTTGGCACTATATTATCATATCAAGCAAAGGT;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.804_837delACCTTGGCACTATATTATCATATCAAGCAAAGGT;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000426433;SAVANT_GENE=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;SAVANT_INFO=-/44.3kb/10/1.1kb;SAVANT_LOC=Ex5-In5/6;SAVANT_HGVS=c.437_468+2del34;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=ESS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNYL2+c.437_468+2del34+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:42924561">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,367,7616:127	0|1:98,22:120:99:439,0,6538:127	0|0:49,0:49:99:0,147,1815:127
10	42928668	.	GGAGTCTATC	G	4451.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs67090148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67090148" target="_blank">rs67090148</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.799+25_799+33delGATAGACTC;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000426433;SAVANT_GENE=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;SAVANT_INFO=-/44.3kb/10/1.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.432+24_432+32del9;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNYL2+c.432+24_432+32del9+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:42928668">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,31:90:99:1123,0,2634:127	1|0:71,30:101:99:1046,0,3170:127	0|0:140,0:140:99:0,421,6591:127
10	42941685	.	T	TA	3621.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11455507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11455507" target="_blank">rs11455507</a>;ExAC.Info.AC=8655;ExAC.Info.AN=22046;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=3852;ExAC.Info.AC_Hom=1766;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.698+5372_698+5371insT;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000426433;SAVANT_GENE=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;SAVANT_INFO=-/44.3kb/10/1.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.299-34dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNYL2+c.299-34dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:42941685">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,18:31:99:471,0,316:57	0|1:22,28:50:99:743,0,545:57	1|1:0,18:18:57:602,57,0:57
10	42949664	.	A	T	12109.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2490085;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2490085" target="_blank">rs2490085</a>;ExAC.Info.AC=49539;ExAC.Info.AN=125896;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=28848;ExAC.Info.AC_Hom=10044;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.624-2533T>A;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000426433;SAVANT_GENE=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;SAVANT_INFO=-/44.3kb/10/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.170T>A_p.Val57Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNYL2+c.170T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:42949664">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,56:92:99:1470,0,940:127	0|1:53,57:110:99:1592,0,1389:127	1|1:0,69:69:99:2436,207,0:127
10	42965636	.	C	T	10614.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=265;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1255411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1255411" target="_blank">rs1255411</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.517G>A;snpeff.Gene_Name=CCNYL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000483242;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNYL2" target="_blank">CCNYL2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNYL2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:42965636">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,43:90:99:1258,0,1266:127	1|1:0,95:95:99:3365,285,0:127	0|0:80,0:80:99:0,240,2616:127
10	43089965	.	G	A	13874.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=222;MQ=69.92;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs210280;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=210280" target="_blank">rs210280</a>;ExAC.Info.AC=101066;ExAC.Info.AN=126636;ExAC.Info.AF=0.798;ExAC.Info.AC_Het=19422;ExAC.Info.AC_Hom=40690;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.411+78C>T;snpeff.Gene_Name=ZNF33B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF33B" target="_blank">ZNF33B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000486187;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg145Cys/c.433C>T;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ZNF33B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF33B" target="_blank">ZNF33B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359467;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359467;SAVANT_GENE=ZNF33B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF33B" target="_blank">ZNF33B</a>;SAVANT_INFO=-/49.4kb/5/5.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.433C>T_p.Arg145Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF33B+c.433C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43089965">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2612,225,0:127	1|0:41,31:72:99:916,0,1135:127	1|1:0,75:75:99:2594,225,0:127
10	43119123	.	G	T	11012.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs158377;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=158377" target="_blank">rs158377</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.229+8254C>A;snpeff.Gene_Name=ZNF33B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF33B" target="_blank">ZNF33B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000486187;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.250+8254C>A;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ZNF33B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF33B" target="_blank">ZNF33B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359467;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359467;SAVANT_GENE=ZNF33B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF33B" target="_blank">ZNF33B</a>;SAVANT_INFO=-/49.4kb/5/5.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.250+8254C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF33B+c.250+8254C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43119123">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,56:57:99:1773,160,0:127	1|0:36,31:67:99:825,0,1105:127	1|1:0,51:51:99:1649,153,0:127
10	43119159	.	T	C	9985.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs158378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=158378" target="_blank">rs158378</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.229+8218A>G;snpeff.Gene_Name=ZNF33B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF33B" target="_blank">ZNF33B</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000486187;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.250+8218A>G;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ZNF33B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF33B" target="_blank">ZNF33B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359467;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359467;SAVANT_GENE=ZNF33B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF33B" target="_blank">ZNF33B</a>;SAVANT_INFO=-/49.4kb/5/5.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.250+8218A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF33B+c.250+8218A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43119159">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1539,132,0:122	1|0:36,26:62:99:746,0,977:122	1|1:0,41:41:99:1527,123,0:122
10	43232450	.	G	A	31086.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=383;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs702370;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=702370" target="_blank">rs702370</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.324-40G>A;snpeff.Gene_Name=RSU1P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSU1P1" target="_blank">RSU1P1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453416;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RSU1P1" target="_blank">RSU1P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RSU1P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43232450">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:3991,366,0:127	1|1:0,144:144:99:4846,433,0:127	1|1:0,117:117:99:4125,352,0:127
10	43280057	.	CTT	C	31871.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs55869085;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55869085" target="_blank">rs55869085</a>;ExAC.Info.AC=126554;ExAC.Info.AN=126554;ExAC.Info.AF=1.00;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=60984;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.176+40_176+41delTT;snpeff.Amino_Acid_length=1282;snpeff.Gene_Name=BMS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMS1" target="_blank">BMS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374518;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000374518;SAVANT_GENE=BMS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMS1" target="_blank">BMS1</a>;SAVANT_INFO=+/48.6kb/23/4.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.176+45_176+46delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMS1+c.176+45_176+46delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43280057">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:4808,350,0:127	1|1:0,109:109:99:4550,329,0:127	1|1:0,91:91:99:3775,275,0:127
10	43281089	.	T	C	10147.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=325;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7074877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7074877" target="_blank">rs7074877</a>;ExAC.Info.AC=58674;ExAC.Info.AN=126700;ExAC.Info.AF=0.463;ExAC.Info.AC_Het=30218;ExAC.Info.AC_Hom=14214;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr112Thr/c.336T>C;snpeff.Amino_Acid_length=1282;snpeff.Gene_Name=BMS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMS1" target="_blank">BMS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374518;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374518;SAVANT_GENE=BMS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMS1" target="_blank">BMS1</a>;SAVANT_INFO=+/48.6kb/23/4.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.336T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMS1+c.336T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43281089">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,57:119:99:1526,0,1691:127	0|0:128,1:129:99:0,375,4394:127	1|1:0,77:77:99:2447,231,0:127
10	43572832	.	G	A	1260.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs12267460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12267460" target="_blank">rs12267460</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+53G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73+53G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.73+53G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43572832">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1140:99	0|1:17,13:30:99:361,0,494:99	0|1:13,10:23:99:289,0,394:99
10	43595836	.	AT	A	5845.98	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.500;AN=4;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=./1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs57003029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57003029" target="_blank">rs57003029</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.74-70delT;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74delT;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74delT;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.74-57delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.74-57delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43595836">View</a>	GT:AD:DP:GQ:PL	0/1:32,54:88:99:1039,0,672	./1:17,61:116:99:1489,454,1105	./0:33,12:68:99:347,271,1486
10	43595836	.	AT	ATT	5845.98	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.500;AN=4;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs57003029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57003029" target="_blank">rs57003029</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.74-69_74-68insT;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74_75insT;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74_75insT;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.74-57dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.74-57dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43595836">View</a>	GT:AD:DP:GQ:PL	./0:32,2:88:99:1039,1229,2313	./1:17,38:116:99:1489,956,1634	0/1:33,23:68:99:347,0,760
10	43595968	.	A	G	46249.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=588;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs1800858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800858" target="_blank">rs1800858</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hirschsprung_disease|_association_with;hgmd_2014.2.OMIM_ID=164761;hgmd_2014.2.PubMed=10528857;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10528857" target="_blank">10528857</a>;ExAC.Info.AC=92959;ExAC.Info.AN=126674;ExAC.Info.AF=0.734;ExAC.Info.AC_Het=23639;ExAC.Info.AC_Hom=34391;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala45Ala/c.135A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.135A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.135A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43595968">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,178:178:99:6131,535,0:127	1|1:1,230:231:99:8060,668,0:127	1|1:0,179:179:99:6252,537,0:127
10	43598195	.	A	G	10864.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=562;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs2472739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2472739" target="_blank">rs2472739</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.625+118A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.625+118A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.625+118A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43598195">View</a>	GT:AD:DP:GQ:PL:TP	0|0:189,0:189:99:0,567,6216:127	0|1:104,102:206:99:2850,0,2938:127	0|1:73,94:167:99:2602,0,2017:127
10	43600324	.	GCC	G	5086.98	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=149;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs144431581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144431581" target="_blank">rs144431581</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.626-75_626-74delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626_627delCC;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.626-72_626-71delCC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.626-72_626-71delCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43600324">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1756:123	0|1:32,43:75:99:1688,0,1159:123	0|1:11,22:33:99:880,0,358:123
10	43600689	.	A	G	3199.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs2435352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2435352" target="_blank">rs2435352</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hirschsprung_disease|_association_with;hgmd_2014.2.OMIM_ID=164761;hgmd_2014.2.PubMed=12872262;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12872262" target="_blank">12872262</a>;ExAC.Info.AC=52874;ExAC.Info.AN=125956;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=29014;ExAC.Info.AC_Hom=11020;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.867+48A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.868A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.868A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.868A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.868A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.868A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.868A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.868A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.868A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.868A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.868A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.867+48A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.867+48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43600689">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1578:127	0|1:34,30:64:99:917,0,942:127	0|1:26,22:48:99:702,0,675:127
10	43606687	.	A	G	2778.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs1800860;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800860" target="_blank">rs1800860</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hirschsprung_disease|_association_with;hgmd_2014.2.OMIM_ID=164761;hgmd_2014.2.PubMed=14627689;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=14627689" target="_blank">14627689</a>;ExAC.Info.AC=89431;ExAC.Info.AN=126698;ExAC.Info.AF=0.706;ExAC.Info.AC_Het=25340;ExAC.Info.AC_Hom=31999;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127778|RCV000082048|RCV000131068;Clinvar.PhenotypeIDs=MedGen:C0027672|MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1296A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1296A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1296A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1296A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1296A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1296A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1296A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1296A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1296A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1296A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala432Ala/c.1296A>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1296A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.1296A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43606687">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127778%20OR%20RCV000082048%20OR%20RCV000131068" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:138,0:138:99:0,415,4750:127	0|0:166,0:166:99:0,499,5827:127	0|1:59,49:108:99:1408,0,1676:127
10	43610119	.	G	A	6834.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1799939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799939" target="_blank">rs1799939</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Hirschsprung_disease|_association_with;hgmd_2014.2.OMIM_ID=164761;hgmd_2014.2.PubMed=10528857;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10528857" target="_blank">10528857</a>;ExAC.Info.AC=25594;ExAC.Info.AN=126690;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=19602;ExAC.Info.AC_Hom=2954;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000021841|RCV000034769|RCV000039052;Clinvar.PhenotypeIDs=|MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Agt;snpeff.Amino_Acid_Change=p.Gly691Ser/c.2071G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2071G>A_p.Gly691Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.2071G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43610119">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000021841%20OR%20RCV000034769%20OR%20RCV000039052" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:93,2:95:99:0,206,3394:127	0|1:67,78:145:99:2361,0,1845:127	0|1:41,38:79:99:1076,0,1230:127
10	43613843	.	G	T	40662.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=496;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs1800861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800861" target="_blank">rs1800861</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hirschsprung_disease|_association_with;hgmd_2014.2.OMIM_ID=164761;hgmd_2014.2.PubMed=10528857;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10528857" target="_blank">10528857</a>;ExAC.Info.AC=93838;ExAC.Info.AN=126690;ExAC.Info.AF=0.741;ExAC.Info.AC_Het=23132;ExAC.Info.AC_Hom=35115;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctT;snpeff.Amino_Acid_Change=p.Leu769Leu/c.2307G>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2307G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.2307G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43613843">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,174:174:99:5507,523,0:127	1|1:0,173:173:99:5778,520,0:127	1|1:0,149:149:99:4845,448,0:127
10	43615505	.	G	A	7020.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs2472737;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2472737" target="_blank">rs2472737</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hirschsprung_disease|_association_with;hgmd_2014.2.OMIM_ID=164761;hgmd_2014.2.PubMed=21222160;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21222160" target="_blank">21222160</a>;ExAC.Info.AC=26099;ExAC.Info.AN=126606;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=19913;ExAC.Info.AC_Hom=2652;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000021870|RCV000082053;Clinvar.PhenotypeIDs=|MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2608-24G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2608G>A;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2608-24G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.2608-24G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43615505">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000021870%20OR%20RCV000082053" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:61,48:109:99:1257,0,1549:127	1|0:62,61:123:99:1710,0,1651:127	0|0:90,0:90:99:0,270,2894:127
10	43615633	.	C	G	6559.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs1800863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800863" target="_blank">rs1800863</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hirschsprung_disease|_association_with;hgmd_2014.2.OMIM_ID=164761;hgmd_2014.2.PubMed=10528857;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10528857" target="_blank">10528857</a>;ExAC.Info.AC=25671;ExAC.Info.AN=126608;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=19583;ExAC.Info.AC_Hom=2855;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000021879|RCV000127781|RCV000039053;Clinvar.PhenotypeIDs=|MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcG;snpeff.Amino_Acid_Change=p.Ser904Ser/c.2712C>G;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2712C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.2712C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43615633">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000021879%20OR%20RCV000127781%20OR%20RCV000039053" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,280,3340:127	0|1:70,65:135:99:1916,0,2014:127	0|1:49,50:99:99:1382,0,1568:127
10	43620335	.	C	T	3812.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17158558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17158558" target="_blank">rs17158558</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Autonomic_control|_congenital_failure_of;hgmd_2014.2.OMIM_ID=164761;hgmd_2014.2.PubMed=14566559;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=14566559" target="_blank">14566559</a>;ExAC.Info.AC=2435;ExAC.Info.AN=126704;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2372;ExAC.Info.AC_Hom=31;Clinvar.ClinicalSignificance=Benign|risk_factor;Clinvar.RCVaccession=RCV000014965|RCV000119132|RCV000034774|RCV000082055;Clinvar.PhenotypeIDs=GeneReviews:NBK1257|MedGen:CN073359|SNOMED_CT:61808009|GeneReviews:NBK1439|MedGen:CN030431|OMIM:142623|Orphanet:ORPHA388|MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg982Cys/c.2944C>T;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2944C>T_p.Arg982Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.2944C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43620335">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014965%20OR%20RCV000119132%20OR%20RCV000034774%20OR%20RCV000082055" target="_blank">Benign|risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,336,3733:127	0|1:63,66:129:99:1925,0,1659:127	0|0:103,0:103:99:0,309,3429:127
10	43622217	.	T	C	49074.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=616;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Multiple_endocrine_neoplasia_IIA|_171400_(3)|_Medullary_thyroid_carcinoma|_155240_(3)|_Multiple_endocrine_neoplasia_IIB|_162300_(3)|_Central_hypoventilation_syndrome|_congenital|_209880_(3)|_Pheochromocytoma|_171300_(3)|_Renal_agenesis|_191830_(3)|_{Hirschsprung_disease|_susceptibility_to|_1}|_142623_(3);dbSNP139.ID=rs2075912;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075912" target="_blank">rs2075912</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hirschsprung_disease|_association_with;hgmd_2014.2.OMIM_ID=164761;hgmd_2014.2.PubMed=12872262;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12872262" target="_blank">12872262</a>;ExAC.Info.AC=99050;ExAC.Info.AN=126068;ExAC.Info.AF=0.786;ExAC.Info.AC_Het=17214;ExAC.Info.AC_Hom=34777;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3187+47T>C;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188T>C;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188T>C;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188T>C;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188T>C;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188T>C;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188T>C;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188T>C;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188T>C;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188T>C;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188T>C;snpeff.Amino_Acid_length=1114;snpeff.Gene_Name=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355710;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355710;SAVANT_GENE=RET;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RET" target="_blank">RET</a>;SAVANT_INFO=+/53.3kb/20/5.7kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.3187+47T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RET+c.3187+47T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43622217">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,183:183:99:6190,550,0:127	1|1:0,249:249:99:8166,747,0:127	1|1:0,184:184:99:6372,552,0:127
10	43671378	.	GT	G	3400.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=53;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs61579799;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61579799" target="_blank">rs61579799</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1255-20delT;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1255delT;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1255delT;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1255delT;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1255delT;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1255delT;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1255delT;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1255delT;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000374466;SAVANT_GENE=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;SAVANT_INFO=+/46.8kb/8/3.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1255-8delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSGALNACT2+c.1255-8delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43671378">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,18:18:53:444,53,0:44	1|1:0,20:20:60:510,60,0:44	1|1:0,15:15:45:383,45,0:44
10	43678796	.	C	T	9371.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2435381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2435381" target="_blank">rs2435381</a>;ExAC.Info.AC=29440;ExAC.Info.AN=126704;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=21694;ExAC.Info.AC_Hom=3873;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1435C>T;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1435C>T;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1435C>T;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1435C>T;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1435C>T;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1435C>T;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1435C>T;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro479Ser/c.1435C>T;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374466;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374466;SAVANT_GENE=CSGALNACT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSGALNACT2" target="_blank">CSGALNACT2</a>;SAVANT_INFO=+/46.8kb/8/3.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1435C>T_p.Pro479Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSGALNACT2+c.1435C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43678796">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,75:137:99:2039,0,1696:127	1|0:99,68:167:99:1868,0,2979:127	0|0:129,0:129:99:0,388,4590:127
10	43694363	.	C	CA	1446.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs35825252;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35825252" target="_blank">rs35825252</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1056+18_1056+17insT;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1057_1058insA;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1057_1058insA;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1057_1058insA;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1057_1058insA;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1057_1058insA;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1057_1058insA;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1057_1058insA;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1057_1058insA;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000395809;SAVANT_GENE=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;SAVANT_INFO=-/13.1kb/13/4.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1032+17_1032+18insT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASGEF1A+c.1032+17_1032+18insT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43694363">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1342:101	0|1:18,16:34:99:532,0,604:101	0|1:25,8:33:99:216,0,885:101
10	43695049	.	T	C	13250.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1254964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1254964" target="_blank">rs1254964</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.873+75A>G;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ras-GEF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.874T>C;snpeff.Amino_Acid_length=489;snpeff.Gene_Name=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374459;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395809;SAVANT_GENE=RASGEF1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASGEF1A" target="_blank">RASGEF1A</a>;SAVANT_INFO=-/13.1kb/13/4.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.849+75A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASGEF1A+c.849+75A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43695049">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,38:78:99:1051,0,1027:127	1|1:0,103:103:99:3810,310,0:127	0|1:57,37:94:99:983,0,1565:127
10	43883342	.	T	A	8930.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1126487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1126487" target="_blank">rs1126487</a>;ExAC.Info.AC=57971;ExAC.Info.AN=126504;ExAC.Info.AF=0.458;ExAC.Info.AC_Het=29149;ExAC.Info.AC_Hom=14152;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.-10A>T;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=HNRNPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPF" target="_blank">HNRNPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356053;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000443950;SAVANT_GENE=HNRNPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPF" target="_blank">HNRNPF</a>;SAVANT_INFO=-/11.2kb/3/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-10A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HNRNPF+c.-10A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43883342">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1588,150,0:122	1|0:33,31:64:99:823,0,922:122	1|1:0,41:41:99:1385,123,0:122
10	43971512	.	C	T	4074.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72787460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72787460" target="_blank">rs72787460</a>;ExAC.Info.AC=93;ExAC.Info.AN=29030;ExAC.Info.AF=3.204e-03;ExAC.Info.AC_Het=82;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.230-43C>T;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=ZNF487;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF487" target="_blank">ZNF487</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431662;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230C>T;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=ZNF487;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF487" target="_blank">ZNF487</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431662;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230C>T;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=ZNF487;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF487" target="_blank">ZNF487</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431662;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431662;SAVANT_GENE=ZNF487P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF487P" target="_blank">ZNF487P</a>;SAVANT_INFO=+/59.2kb/7/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.230-43C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF487P+c.230-43C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43971512">View</a>	GT:AD:DP:GQ:PL:TP	0|0:131,0:131:99:0,393,4267:127	0|1:74,73:147:99:2056,0,2080:127	0|0:137,0:137:99:0,412,4455:127
10	43976983	.	T	C	8013.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12359980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12359980" target="_blank">rs12359980</a>;ExAC.Info.AC=3661;ExAC.Info.AN=22056;ExAC.Info.AF=0.166;ExAC.Info.AC_Het=2750;ExAC.Info.AC_Hom=328;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn144Asn/c.432T>C;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=ZNF487;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF487" target="_blank">ZNF487</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431662;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431662;SAVANT_GENE=ZNF487P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF487P" target="_blank">ZNF487P</a>;SAVANT_INFO=+/59.2kb/7/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.432T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF487P+c.432T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43976983">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,73:119:99:2121,0,1268:127	1|0:56,64:120:99:1857,0,1700:127	0|0:118,0:118:99:0,355,4238:127
10	43978087	.	A	G	3494.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3750890;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750890" target="_blank">rs3750890</a>;ExAC.Info.AC=62085;ExAC.Info.AN=123532;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=16644;ExAC.Info.AC_Hom=9887;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1002A>G;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=ZNF487;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF487" target="_blank">ZNF487</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431662;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg334Arg/c.1002A>G;snpeff.Amino_Acid_length=448;snpeff.Gene_Name=ZNF487;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF487" target="_blank">ZNF487</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431662;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431662;SAVANT_GENE=ZNF487P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF487P" target="_blank">ZNF487P</a>;SAVANT_INFO=+/59.2kb/7/1.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1002A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF487P+c.1002A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:43978087">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,268,2975:127	0|1:47,58:105:99:1766,0,1389:127	0|0:103,0:103:99:0,310,3575:127
10	44052903	.	A	C	4110.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230661" target="_blank">rs2230661</a>;ExAC.Info.AC=70179;ExAC.Info.AN=126014;ExAC.Info.AF=0.557;ExAC.Info.AC_Het=30642;ExAC.Info.AC_Hom=19591;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Ggt;snpeff.Amino_Acid_Change=p.Cys209Gly/c.625T>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=ZNF239;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF239" target="_blank">ZNF239</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426961;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306006;SAVANT_GENE=ZNF239;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF239" target="_blank">ZNF239</a>;SAVANT_INFO=-/12.1kb/2/2.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.625T>G_p.Cys209Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF239+c.625T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44052903">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4633:127	0|0:146,0:146:99:0,439,5208:127	0|1:80,73:153:99:2074,0,2117:127
10	44053013	.	G	C	5018.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=501;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230660;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230660" target="_blank">rs2230660</a>;ExAC.Info.AC=69913;ExAC.Info.AN=125548;ExAC.Info.AF=0.557;ExAC.Info.AC_Het=30613;ExAC.Info.AC_Hom=19552;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCt/gGt;snpeff.Amino_Acid_Change=p.Ala172Gly/c.515C>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=ZNF239;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF239" target="_blank">ZNF239</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426961;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306006;SAVANT_GENE=ZNF239;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF239" target="_blank">ZNF239</a>;SAVANT_INFO=-/12.1kb/2/2.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.515C>G_p.Ala172Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF239+c.515C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44053013">View</a>	GT:AD:DP:GQ:PL:TP	0|0:151,0:151:99:0,454,5485:127	0|0:185,0:185:99:0,556,6785:127	0|1:81,84:165:99:2528,0,2419:127
10	44053585	.	C	T	2186.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2999278;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2999278" target="_blank">rs2999278</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=58;snpeff.Amino_Acid_Change=c.-58G>A;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=ZNF239;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF239" target="_blank">ZNF239</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000426961;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306006;SAVANT_GENE=ZNF239;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF239" target="_blank">ZNF239</a>;SAVANT_INFO=-/12.1kb/2/2.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-58G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF239+c.-58G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44053585">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,237,2866:127	0|0:124,0:124:99:0,372,4259:127	0|1:63,40:103:99:1112,0,1984:127
10	44111806	.	G	A	29737.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=661;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10899839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10899839" target="_blank">rs10899839</a>;ExAC.Info.AC=36533;ExAC.Info.AN=126700;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=24418;ExAC.Info.AC_Hom=6029;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu105Leu/c.315G>A;snpeff.Amino_Acid_length=441;snpeff.Gene_Name=ZNF485;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF485" target="_blank">ZNF485</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361807;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361807;SAVANT_GENE=ZNF485;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF485" target="_blank">ZNF485</a>;SAVANT_INFO=+/11.5kb/5/2.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.315G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF485+c.315G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44111806">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,199:199:99:6523,598,0:127	1|0:140,113:253:99:3013,0,4036:127	1|0:107,102:209:99:2631,0,3027:127
10	44112245	.	G	A	23876.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12354886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12354886" target="_blank">rs12354886</a>;ExAC.Info.AC=24784;ExAC.Info.AN=126696;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=19201;ExAC.Info.AC_Hom=2764;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala252Thr/c.754G>A;snpeff.Amino_Acid_length=441;snpeff.Gene_Name=ZNF485;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF485" target="_blank">ZNF485</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361807;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361807;SAVANT_GENE=ZNF485;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF485" target="_blank">ZNF485</a>;SAVANT_INFO=+/11.5kb/5/2.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.754G>A_p.Ala252Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF485+c.754G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44112245">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:5073,471,0:127	1|0:88,90:178:99:2423,0,2443:127	1|0:61,73:134:99:2100,0,1587:127
10	44340865	.	G	A	10061.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs4948785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4948785" target="_blank">rs4948785</a>;ExAC.Info.AC=9552;ExAC.Info.AN=23302;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=4452;ExAC.Info.AC_Hom=2025;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.102+10G>A;snpeff.Gene_Name=LINC00619;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00619" target="_blank">LINC00619</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000374432;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374432;SAVANT_GENE=C10orf136;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf136" target="_blank">C10orf136</a>;SAVANT_INFO=+/5.3kb/3/1.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.95+10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf136+c.95+10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44340865">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1767,168,0:127	1|0:43,29:72:99:744,0,1447:127	1|0:21,41:62:99:1255,0,624:127
10	44341072	.	CATTGATT	C	20254.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=306;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10535963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10535963" target="_blank">rs10535963</a>;ExAC.Info.AC=8034;ExAC.Info.AN=21710;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=4203;ExAC.Info.AC_Hom=1684;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.172+23_172+29delATTGATT;snpeff.Gene_Name=LINC00619;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00619" target="_blank">LINC00619</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000374432;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000374432;SAVANT_GENE=C10orf136;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf136" target="_blank">C10orf136</a>;SAVANT_INFO=+/5.3kb/3/1.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.165+26_165+32del7;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf136+c.165+26_165+32del7+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44341072">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:3914,263,0:127	1|0:75,52:127:99:1877,0,3816:127	1|0:55,37:92:99:1376,0,2831:127
10	44793299	.	C	T	14895.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2505734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2505734" target="_blank">rs2505734</a>;ExAC.Info.AC=7654;ExAC.Info.AN=15738;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=2801;ExAC.Info.AC_Hom=1722;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CXCL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CXCL12+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44793299">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,75:127:99:2124,0,1365:127	1|1:0,134:134:99:4653,402,0:127	0|0:142,0:142:99:0,427,4864:127
10	44793355	.	G	A	5927.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56043323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56043323" target="_blank">rs56043323</a>;ExAC.Info.AC=1591;ExAC.Info.AN=16162;ExAC.Info.AF=0.098;ExAC.Info.AC_Het=1193;ExAC.Info.AC_Hom=100;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CXCL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CXCL12+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44793355">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,42:103:99:1134,0,1678:127	0|0:126,0:126:99:0,379,4239:127	1|0:63,50:113:99:1399,0,1783:127
10	44868856	.	A	C	18381.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs266091;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=266091" target="_blank">rs266091</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CXCL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CXCL12+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44868856">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:3188,264,0:127	1|0:32,41:73:99:1280,0,887:127	1|1:0,85:85:99:3453,256,0:127
10	44868864	.	C	T	2322.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs266090;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=266090" target="_blank">rs266090</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CXCL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CXCL12+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44868864">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2421:127	0|0:63,0:63:99:0,192,2953:127	0|1:43,40:83:99:1180,0,1184:127
10	44870015	.	C	T	1730.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs266088;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=266088" target="_blank">rs266088</a>;ExAC.Info.AC=2220;ExAC.Info.AN=17268;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=1583;ExAC.Info.AC_Hom=185;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CXCL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CXCL12+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44870015">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2644:127	0|0:98,1:99:99:0,254,3552:127	0|1:42,34:76:99:884,0,1362:127
10	44870240	.	C	T	400.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs197452;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=197452" target="_blank">rs197452</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CXCL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CXCL12+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44870240">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,973:83	0|0:44,0:44:99:0,132,1458:83	0|1:26,8:34:99:219,0,810:83
10	44871548	.	G	A	8079.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2297630;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297630" target="_blank">rs2297630</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CXCL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CXCL12+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44871548">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,49:95:99:1390,0,1286:127	1|0:86,80:166:99:2136,0,2479:127	0|0:118,0:118:99:0,355,4127:127
10	44873849	.	A	G	6494.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2839695;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2839695" target="_blank">rs2839695</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.51+112A>G;snpeff.Amino_Acid_length=25;snpeff.Gene_Name=AL137026.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL1370261" target="_blank">AL1370261</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000593376;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.266+236T>C;snpeff.Amino_Acid_length=140;snpeff.Gene_Name=CXCL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL1370261" target="_blank">AL1370261</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395794;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395794;SAVANT_GENE=CXCL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;SAVANT_INFO=-/7.9kb/4/1.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.266+236T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CXCL12+c.266+236T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44873849">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,45:92:99:1246,0,1373:127	0|0:149,0:149:99:0,448,5509:127	1|0:48,45:93:99:1236,0,1415:127
10	44873992	.	C	CCT	13978.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=550;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2839694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2839694" target="_blank">rs2839694</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.51+256_51+257insCT;snpeff.Amino_Acid_length=25;snpeff.Gene_Name=AL137026.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL1370261" target="_blank">AL1370261</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000593376;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.266+93_266+92insAG;snpeff.Amino_Acid_length=140;snpeff.Gene_Name=CXCL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL1370261" target="_blank">AL1370261</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395794;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000395794;SAVANT_GENE=CXCL12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CXCL12" target="_blank">CXCL12</a>;SAVANT_INFO=-/7.9kb/4/1.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.266+91_266+92dupAG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CXCL12+c.266+91_266+92dupAG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:44873992">View</a>	GT:AD:DP:GQ:PL:TP	0|1:101,72:173:99:2650,0,3755:127	1|0:122,97:219:99:3519,0,4560:127	0|0:158,0:158:99:0,477,6779:127
10	45430462	.	C	T	3688.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17417442;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17417442" target="_blank">rs17417442</a>;ExAC.Info.AC=48062;ExAC.Info.AN=124888;ExAC.Info.AF=0.385;ExAC.Info.AC_Het=28792;ExAC.Info.AC_Hom=9592;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.99-11788G>A;snpeff.Gene_Name=TMEM72-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM72-AS1" target="_blank">TMEM72-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000450287;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala236Ala/c.708C>T;snpeff.Amino_Acid_length=275;snpeff.Gene_Name=TMEM72;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM72-AS1" target="_blank">TMEM72-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389583;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389583;SAVANT_GENE=TMEM72;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM72" target="_blank">TMEM72</a>;SAVANT_INFO=+/25.8kb/5/3.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.708C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM72+c.708C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45430462">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,21:50:99:588,0,706:127	1|0:29,30:59:99:898,0,821:127	0|0:43,0:43:99:0,129,1401:127
10	45467204	.	T	C	4595.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2274886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274886" target="_blank">rs2274886</a>;ExAC.Info.AC=5028;ExAC.Info.AN=126702;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=4788;ExAC.Info.AC_Hom=120;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C10orf10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf10" target="_blank">C10orf10</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.62+1492T>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=RASSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf10" target="_blank">C10orf10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334940;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340258;SAVANT_GENE=RASSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF4" target="_blank">RASSF4</a>;SAVANT_INFO=+/34.9kb/11/2.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.63-17T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASSF4+c.63-17T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45467204">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,25:43:99:691,0,450:127	1|0:32,36:68:99:938,0,923:127	0|0:53,0:53:99:0,159,1822:127
10	45473317	.	C	T	5146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=511;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3740094;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740094" target="_blank">rs3740094</a>;ExAC.Info.AC=20249;ExAC.Info.AN=126294;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=16318;ExAC.Info.AC_Hom=1801;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.63-4548C>T;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=RASSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF4" target="_blank">RASSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334940;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu54Leu/c.162G>A;snpeff.Amino_Acid_length=212;snpeff.Gene_Name=C10orf10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF4" target="_blank">RASSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298295;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340258:ENST00000298295;SAVANT_GENE=RASSF4:C10orf10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF4:C10orf10" target="_blank">RASSF4:C10orf10</a>;SAVANT_INFO=+/34.9kb/11/2.5kb:-/2.7kb/2/2.1kb;SAVANT_LOC=In3/4:Ex2;SAVANT_HGVS=c.139-4652C>T:c.162G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASSF4:C10orf10+c.139-4652C>T:c.162G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45473317">View</a>	GT:AD:DP:GQ:PL:TP	0|0:155,0:155:99:0,466,5271:127	0|1:101,90:191:99:2592,0,2880:127	0|0:165,0:165:99:0,496,5719:127
10	45478092	.	A	G	720.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs870957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=870957" target="_blank">rs870957</a>;ExAC.Info.AC=25772;ExAC.Info.AN=126696;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=19684;ExAC.Info.AC_Hom=2989;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg70Gly/c.208A>G;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=RASSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF4" target="_blank">RASSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334940;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340258;SAVANT_GENE=RASSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF4" target="_blank">RASSF4</a>;SAVANT_INFO=+/34.9kb/11/2.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.262A>G_p.Arg88Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASSF4+c.262A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45478092">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1198:95	0|0:48,0:48:99:0,144,1753:95	0|1:5,11:16:99:379,0,148:95
10	45479434	.	G	A	852.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs871043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=871043" target="_blank">rs871043</a>;ExAC.Info.AC=19719;ExAC.Info.AN=119642;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=6908;ExAC.Info.AC_Hom=1114;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro91Pro/c.273G>A;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=RASSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF4" target="_blank">RASSF4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334940;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340258;SAVANT_GENE=RASSF4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF4" target="_blank">RASSF4</a>;SAVANT_INFO=+/34.9kb/11/2.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.282-36G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASSF4+c.282-36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45479434">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1361:122	0|0:51,0:51:99:0,153,1715:122	0|1:41,19:60:99:445,0,1247:122
10	45496120	.	A	T	21035.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=592;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12269028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12269028" target="_blank">rs12269028</a>;ExAC.Info.AC=75736;ExAC.Info.AN=126704;ExAC.Info.AF=0.598;ExAC.Info.AC_Het=28307;ExAC.Info.AC_Hom=23651;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2697;snpeff.Amino_Acid_Change=c.-396A>T;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=ZNF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF22" target="_blank">ZNF22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298299;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aAt;snpeff.Amino_Acid_Change=p.Ile63Asn/c.188T>A;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=C10orf25;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF22" target="_blank">ZNF22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298298;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298299:ENST00000298298;SAVANT_GENE=ZNF22:C10orf25;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF22:C10orf25" target="_blank">ZNF22:C10orf25</a>;SAVANT_INFO=+/4.9kb/2/2.6kb:-/3.2kb/2/3.1kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-2697A>T:c.188T>A_p.Ile63Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF22:C10orf25+c.-2697A>T:c.188T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45496120">View</a>	GT:AD:DP:GQ:PL:TP	0|1:97,98:195:99:2657,0,2739:127	1|1:0,202:202:99:7041,607,0:127	0|0:195,0:195:99:0,586,6874:127
10	45869748	.	C	T	5192.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4987105;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4987105" target="_blank">rs4987105</a>;ExAC.Info.AC=9843;ExAC.Info.AN=108290;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=3238;ExAC.Info.AC_Hom=334;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.21C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.21C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.21C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.21C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr7Thr/c.21C>T;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374391;SAVANT_GENE=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;SAVANT_INFO=+/71.9kb/14/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.21C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALOX5+c.21C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45869748">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,24:71:99:640,0,1495:127	0|0:91,0:91:99:0,274,3219:127	1|0:35,29:64:99:815,0,1071:127
10	45869895	.	A	G	6911.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs111916157;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111916157" target="_blank">rs111916157</a>;ExAC.Info.AC=19428;ExAC.Info.AN=123098;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=12044;ExAC.Info.AC_Hom=1199;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.150+18A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374391;SAVANT_GENE=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;SAVANT_INFO=+/71.9kb/14/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.150+18A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALOX5+c.150+18A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45869895">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,34:93:99:1243,0,3052:127	0|0:93,0:93:99:0,282,5183:127	1|0:33,29:62:99:1071,0,1674:127
10	45869903	.	A	G	6300.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs111528152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111528152" target="_blank">rs111528152</a>;ExAC.Info.AC=16407;ExAC.Info.AN=122614;ExAC.Info.AF=0.134;ExAC.Info.AC_Het=9306;ExAC.Info.AC_Hom=754;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.150+26A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.151A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374391;SAVANT_GENE=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;SAVANT_INFO=+/71.9kb/14/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.150+26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALOX5+c.150+26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45869903">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,34:89:99:1299,0,2912:127	0|0:82,0:82:99:0,256,4866:127	1|0:31,25:56:99:1031,0,1635:127
10	45901089	.	A	G	31564.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=990;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2115819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2115819" target="_blank">rs2115819</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.432-6550A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432A>G;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374391;SAVANT_GENE=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;SAVANT_INFO=+/71.9kb/14/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.432-6550A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALOX5+c.432-6550A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45901089">View</a>	GT:AD:DP:GQ:PL:TP	0/1:163,138:301:99:3857,0,4279:127	0/1:165,220:385:99:6374,0,4302:127	0/1:144,160:304:99:4417,0,3689:127
10	45924023	.	G	A	17015.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1565096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1565096" target="_blank">rs1565096</a>;ExAC.Info.AC=96833;ExAC.Info.AN=126688;ExAC.Info.AF=0.764;ExAC.Info.AC_Het=21919;ExAC.Info.AC_Hom=37119;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.835-43G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374391;SAVANT_GENE=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;SAVANT_INFO=+/71.9kb/14/2.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.835-43G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALOX5+c.835-43G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45924023">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1914,156,0:127	1|1:0,76:76:99:2792,229,0:127	1|1:0,55:55:99:1962,165,0:127
10	45938677	.	G	A	5961.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=484;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs28395868;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28395868" target="_blank">rs28395868</a>;ExAC.Info.AC=3926;ExAC.Info.AN=126568;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3657;ExAC.Info.AC_Hom=96;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1451+13G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1452G>A;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374391;SAVANT_GENE=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;SAVANT_INFO=+/71.9kb/14/2.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1451+13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALOX5+c.1451+13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45938677">View</a>	GT:AD:DP:GQ:PL:TP	0|0:167,0:167:99:0,502,5706:127	0|1:90,97:187:99:2999,0,2680:127	0|0:130,0:130:99:0,391,4512:127
10	45939136	.	T	C	16532.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7900977;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7900977" target="_blank">rs7900977</a>;ExAC.Info.AC=92429;ExAC.Info.AN=124312;ExAC.Info.AF=0.744;ExAC.Info.AC_Het=16486;ExAC.Info.AC_Hom=26092;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1574-40T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1574T>C;snpeff.Amino_Acid_length=674;snpeff.Gene_Name=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374391;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374391;SAVANT_GENE=ALOX5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALOX5" target="_blank">ALOX5</a>;SAVANT_INFO=+/71.9kb/14/2.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1574-40T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALOX5+c.1574-40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45939136">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1856,161,0:127	1|1:0,63:63:99:2200,188,0:127	1|1:0,60:60:99:2164,180,0:127
10	45953767	.	A	G	16712.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7908745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7908745" target="_blank">rs7908745</a>;ExAC.Info.AC=39813;ExAC.Info.AN=126702;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=26798;ExAC.Info.AC_Hom=6506;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Cat;snpeff.Amino_Acid_Change=p.Tyr548His/c.1642T>C;snpeff.Amino_Acid_length=573;snpeff.Gene_Name=MARCH8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARCH8" target="_blank">MARCH8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453424;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395771;SAVANT_GENE=MARCH8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARCH8" target="_blank">MARCH8</a>;SAVANT_INFO=-/137.5kb/8/2.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.796T>C_p.Tyr266His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MARCH8+c.796T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45953767">View</a>	GT:AD:DP:GQ:PL:TP	0/1:70,79:149:99:2319,0,1648:127	0/1:109,87:196:99:2561,0,3053:127	0/1:70,85:155:99:2693,0,1927:127
10	45958856	.	G	C	12621.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2291428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291428" target="_blank">rs2291428</a>;ExAC.Info.AC=4892;ExAC.Info.AN=22960;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=3264;ExAC.Info.AC_Hom=543;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttC/ttG;snpeff.Amino_Acid_Change=p.Phe277Leu/c.831C>G;snpeff.Amino_Acid_length=573;snpeff.Gene_Name=MARCH8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARCH8" target="_blank">MARCH8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453424;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395771;SAVANT_GENE=MARCH8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARCH8" target="_blank">MARCH8</a>;SAVANT_INFO=-/137.5kb/8/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.242+831C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MARCH8+c.242+831C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45958856">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,52:100:99:1659,0,1395:127	0/1:70,66:136:99:1996,0,2152:127	0/1:46,53:99:99:1670,0,1465:127
10	45958881	.	A	C	11106.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2291429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291429" target="_blank">rs2291429</a>;ExAC.Info.AC=4873;ExAC.Info.AN=22306;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=3843;ExAC.Info.AC_Hom=544;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTg/tGg;snpeff.Amino_Acid_Change=p.Leu269Trp/c.806T>G;snpeff.Amino_Acid_length=573;snpeff.Gene_Name=MARCH8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARCH8" target="_blank">MARCH8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453424;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395771;SAVANT_GENE=MARCH8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MARCH8" target="_blank">MARCH8</a>;SAVANT_INFO=-/137.5kb/8/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.242+806T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MARCH8+c.242+806T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:45958881">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,61:102:99:1828,0,1151:127	0/1:70,58:128:99:1839,0,2103:127	0/1:44,35:79:99:1124,0,1353:127
10	46135871	.	TA	T	668.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=43;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.570-461delT;snpeff.Amino_Acid_length=727;snpeff.Gene_Name=ZFAND4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFAND4" target="_blank">ZFAND4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344646;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000344646;SAVANT_GENE=ANUBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANUBL1" target="_blank">ANUBL1</a>;SAVANT_INFO=-/56.8kb/10/3.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.570-461delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANUBL1+c.570-461delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46135871">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,8:15:74:74,0,95:60	0/1:7,7:14:76:76,0,91:60	0/1:5,9:14:61:87,0,61:60
10	46143958	.	T	G	3658.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17854567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17854567" target="_blank">rs17854567</a>;ExAC.Info.AC=16708;ExAC.Info.AN=126668;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=13890;ExAC.Info.AC_Hom=1393;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aCg;snpeff.Amino_Acid_Change=p.Lys118Thr/c.353A>C;snpeff.Amino_Acid_length=727;snpeff.Gene_Name=ZFAND4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFAND4" target="_blank">ZFAND4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344646;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344646;SAVANT_GENE=ANUBL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANUBL1" target="_blank">ANUBL1</a>;SAVANT_INFO=-/56.8kb/10/3.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.353A>C_p.Lys118Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANUBL1+c.353A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46143958">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,0:103:99:0,310,3593:127	0|1:83,61:144:99:1847,0,2653:127	0|0:129,0:129:99:0,388,4389:127
10	46254741	.	C	CA	381.91	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=10;MQ=34.73;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;ExAC.Info.AC=508;ExAC.Info.AN=48738;ExAC.Info.AF=0.010;ExAC.Info.AC_Het=48;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1549-21_1549-20insA;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=FAM21C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21C" target="_blank">FAM21C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374362;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000374362;SAVANT_GENE=FAM21C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21C" target="_blank">FAM21C</a>;SAVANT_INFO=+/65.7kb/30/4.6kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1549-22_1549-21insA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM21C+c.1549-22_1549-21insA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46254741">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:12:119,12,0:3	1|0:1,4:5:13:70,0,13:3	1|1:0,1:1:3:30,3,0:3
10	46952758	.	G	T	1191.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=110;MQ=57.22;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3120431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3120431" target="_blank">rs3120431</a>;ExAC.Info.AC=1135;ExAC.Info.AN=19300;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=910;ExAC.Info.AC_Hom=11;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.312+975G>T;snpeff.Gene_Name=RP11-38L15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000506914;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-38L153+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46952758">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,10:41:99:204,0,845:114	0/1:23,13:36:99:324,0,629:114	0/1:27,6:33:99:114,0,828:114
10	46952802	.	T	C	1023.35	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=148;MQ=60.26;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201063459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201063459" target="_blank">rs201063459</a>;ExAC.Info.AC=697;ExAC.Info.AN=20746;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=465;ExAC.Info.AC_Hom=9;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.312+1019T>C;snpeff.Gene_Name=RP11-38L15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000506914;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-38L153+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46952802">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,12:53:99:258,0,1107:25	0/1:44,13:57:99:281,0,1228:25	0/1:34,4:38:25:25,0,1083:25
10	46952839	.	G	A	1687.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=181;MQ=54.88;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs138917182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138917182" target="_blank">rs138917182</a>;ExAC.Info.AC=890;ExAC.Info.AN=21734;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=629;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.312+1056G>A;snpeff.Gene_Name=RP11-38L15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000506914;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-38L153+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46952839">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,29:63:99:664,0,901:96	0/1:64,11:75:97:97,0,1747:96	0/1:35,8:43:99:116,0,987:96
10	46963951	.	G	A	11007.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=728;MQ=60.78;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs55945664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55945664" target="_blank">rs55945664</a>;ExAC.Info.AC=32150;ExAC.Info.AN=125386;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=32003;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.313-2528G>A;snpeff.Gene_Name=RP11-38L15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000506914;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu391Leu/c.1171C>T;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374321;SAVANT_GENE=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=-/8.6kb/8/1.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1012C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+c.1012C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46963951">View</a>	GT:AD:DP:GQ:PL:TP	0/1:142,54:196:99:1226,0,4185:127	0/1:265,84:349:99:1827,0,8200:127	0/1:122,61:183:99:1614,0,3707:127
10	46965018	.	C	G	21531.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=408;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3127785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127785" target="_blank">rs3127785</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=59763;ExAC.Info.AN=125546;ExAC.Info.AF=0.476;ExAC.Info.AC_Het=57721;ExAC.Info.AC_Hom=860;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.313-1461C>G;snpeff.Gene_Name=RP11-38L15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000506914;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu362Asp/c.1086G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374321;SAVANT_GENE=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=-/8.6kb/8/1.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.927G>C_p.Glu309Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+c.927G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46965018">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,66:117:99:1960,0,1321:127	0/1:40,152:192:99:4540,0,749:127	0/1:38,61:99:99:1906,0,1049:127
10	46965727	.	G	A	13937.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=277;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1889849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889849" target="_blank">rs1889849</a>;ExAC.Info.AC=63427;ExAC.Info.AN=125554;ExAC.Info.AF=0.505;ExAC.Info.AC_Het=60591;ExAC.Info.AC_Hom=1279;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.313-752G>A;snpeff.Gene_Name=RP11-38L15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000506914;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala323Ala/c.969C>T;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-38L153" target="_blank">RP11-38L153</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374321;SAVANT_GENE=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=-/8.6kb/8/1.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.810C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+c.810C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46965727">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,48:74:99:1440,0,689:127	0/1:31,103:134:99:3104,0,627:127	0/1:24,45:69:99:1358,0,635:127
10	46965887	.	T	TG	3424.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs112965082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112965082" target="_blank">rs112965082</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.811-2_811-3insC;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.313-591_313-590insG;snpeff.Gene_Name=RP11-38L15.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000506914;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.811_812insC;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000374321;SAVANT_GENE=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=-/8.6kb/8/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.652-3dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+c.652-3dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46965887">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,19:58:99:404,0,1012:127	0/1:60,16:76:99:286,0,1603:127	0/1:36,28:64:99:685,0,896:127
10	46967672	.	C	T	22023.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2152530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2152530" target="_blank">rs2152530</a>;ExAC.Info.AC=64137;ExAC.Info.AN=125284;ExAC.Info.AF=0.512;ExAC.Info.AC_Het=59864;ExAC.Info.AC_Hom=1686;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro188Pro/c.564G>A;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374321;SAVANT_GENE=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=-/8.6kb/8/1.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.405G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+c.405G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46967672">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,97:135:99:2871,0,768:127	0/1:57,154:211:99:4643,0,1270:127	0/1:35,67:102:99:2041,0,896:127
10	46968665	.	G	A	564.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs200814731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200814731" target="_blank">rs200814731</a>;cosmic68.Histology_subtype=serous_carcinoma;ExAC.Info.AC=12812;ExAC.Info.AN=125824;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=12745;ExAC.Info.AC_Hom=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu144Leu/c.430C>T;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374321;SAVANT_GENE=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=-/8.6kb/8/1.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.271C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+c.271C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46968665">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2398:127	0|1:70,14:84:99:301,0,2265:127	0|0:49,0:49:99:0,147,1774:127
10	46968762	.	C	G	10809.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3127790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127790" target="_blank">rs3127790</a>;ExAC.Info.AC=63472;ExAC.Info.AN=125570;ExAC.Info.AF=0.505;ExAC.Info.AC_Het=58391;ExAC.Info.AC_Hom=1285;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.372-39G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374321;SAVANT_GENE=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=-/8.6kb/8/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.213-39G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+c.213-39G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46968762">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,37:55:99:1080,0,507:127	0/1:17,65:82:99:2033,0,436:127	0/1:18,39:57:99:1218,0,471:127
10	46969312	.	G	A	1262.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55894256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55894256" target="_blank">rs55894256</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=10852;ExAC.Info.AN=125716;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=10770;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.372-589C>T;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374321;SAVANT_GENE=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=-/8.6kb/8/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.149C>T_p.Thr50Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+c.149C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46969312">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,234,2866:127	0|0:119,0:119:99:0,357,4382:127	0|1:46,28:74:99:650,0,1515:127
10	46970654	.	C	A	3195.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs915449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=915449" target="_blank">rs915449</a>;ExAC.Info.AC=6319;ExAC.Info.AN=14944;ExAC.Info.AF=0.423;ExAC.Info.AC_Het=4879;ExAC.Info.AC_Hom=101;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acT;snpeff.Amino_Acid_Change=p.Thr53Thr/c.159G>T;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46970654">View</a>	GT:AD:DP:GQ:PL:TP	0/1:4,16:20:68:507,0,68:42	0/1:10,15:25:99:421,0,257:42	0/1:2,10:12:43:332,0,43:42
10	46970792	.	G	C	1619.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=39;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs915450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=915450" target="_blank">rs915450</a>;ExAC.Info.AC=5319;ExAC.Info.AN=16314;ExAC.Info.AF=0.326;ExAC.Info.AC_Het=2516;ExAC.Info.AC_Hom=16;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro7Pro/c.21C>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46970792">View</a>	GT:AD:DP:GQ:PL:TP	0/1:2,6:8:55:195,0,55:55	0/1:9,7:16:99:235,0,330:55	0/1:5,10:15:99:262,0,132:55
10	46970796	.	G	A	96.77	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=36;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs112001859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112001859" target="_blank">rs112001859</a>;ExAC.Info.AC=177;ExAC.Info.AN=18858;ExAC.Info.AF=9.386e-03;ExAC.Info.AC_Het=95;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCa/tTa;snpeff.Amino_Acid_Change=p.Ser6Leu/c.17C>T;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46970796">View</a>	GT:AD:DP:GQ:PL:TP	0|0:8,0:8:24:0,24,400:23	0|1:12,3:15:67:67,0,592:23	0|0:13,0:13:39:0,39,683:23
10	46970815	.	C	T	202.78	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=30;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs915451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=915451" target="_blank">rs915451</a>;ExAC.Info.AC=582;ExAC.Info.AN=19326;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=303;ExAC.Info.AC_Hom=0;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3;snpeff.Amino_Acid_Change=c.-3G>A;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=SYT15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374323;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT15" target="_blank">SYT15</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT15+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46970815">View</a>	GT:AD:DP:GQ:PL:TP	0|0:7,0:7:21:0,21,260:20	0|1:6,4:10:99:120,0,261:20	0|0:13,0:13:39:0,39,526:20
10	46998894	.	G	A	11474.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3127817;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127817" target="_blank">rs3127817</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=58075;ExAC.Info.AN=119568;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=54994;ExAC.Info.AC_Hom=234;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg5His/c.14G>A;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.14G>A_p.Arg5His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.14G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46998894">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,60:91:99:1557,0,750:127	0/1:59,64:123:99:1728,0,1543:127	0/1:15,51:66:99:1463,0,336:127
10	46998995	.	C	G	5199.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4926045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4926045" target="_blank">rs4926045</a>;ExAC.Info.AC=58535;ExAC.Info.AN=125856;ExAC.Info.AF=0.465;ExAC.Info.AC_Het=56044;ExAC.Info.AC_Hom=17;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Gtc;snpeff.Amino_Acid_Change=p.Leu39Val/c.115C>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.115C>G_p.Leu39Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.115C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46998995">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,29:77:99:728,0,2012:127	0/1:90,33:123:99:823,0,3439:127	0/1:37,24:61:99:674,0,1523:127
10	46998999	.	G	A	13633.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3127818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127818" target="_blank">rs3127818</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=63245;ExAC.Info.AN=125796;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=58366;ExAC.Info.AC_Hom=352;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg40His/c.119G>A;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.119G>A_p.Arg40His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.119G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46998999">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,51:80:99:2020,0,1058:127	0/1:60,62:122:99:2384,0,2718:127	0/1:25,37:62:99:1405,0,980:127
10	46999019	.	G	A	15137.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3127819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127819" target="_blank">rs3127819</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=63007;ExAC.Info.AN=125798;ExAC.Info.AF=0.501;ExAC.Info.AC_Het=58558;ExAC.Info.AC_Hom=300;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val47Met/c.139G>A;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.139G>A_p.Val47Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.139G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999019">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,56:84:99:2167,0,1046:127	0/1:65,71:136:99:2633,0,2891:127	0/1:29,42:71:99:1574,0,1125:127
10	46999030	.	C	T	4921.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4925989;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4925989" target="_blank">rs4925989</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=58239;ExAC.Info.AN=125678;ExAC.Info.AF=0.463;ExAC.Info.AC_Het=55853;ExAC.Info.AC_Hom=7;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala50Ala/c.150C>T;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.150C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.150C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999030">View</a>	GT:AD:DP:GQ:PL:TP	0/1:61,31:92:99:694,0,2397:127	0/1:102,33:135:99:663,0,3822:127	0/1:45,26:71:99:633,0,1692:127
10	46999151	.	T	C	10331.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3127820;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127820" target="_blank">rs3127820</a>;ExAC.Info.AC=62165;ExAC.Info.AN=125710;ExAC.Info.AF=0.495;ExAC.Info.AC_Het=60480;ExAC.Info.AC_Hom=226;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp91Arg/c.271T>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.271T>C_p.Trp91Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.271T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999151">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,55:82:99:1674,0,658:127	0/1:40,54:94:99:1768,0,1174:127	0/1:23,35:58:99:1160,0,670:127
10	46999178	.	A	C	4391.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7090312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7090312" target="_blank">rs7090312</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=60068;ExAC.Info.AN=125860;ExAC.Info.AF=0.477;ExAC.Info.AC_Het=58725;ExAC.Info.AC_Hom=19;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Ccc;snpeff.Amino_Acid_Change=p.Thr100Pro/c.298A>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.298A>C_p.Thr100Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.298A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999178">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,22:75:99:597,0,1688:127	0/1:86,22:108:99:553,0,2776:127	0/1:31,22:53:99:718,0,925:127
10	46999189	.	C	T	13006.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3127678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127678" target="_blank">rs3127678</a>;ExAC.Info.AC=62740;ExAC.Info.AN=125610;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=60595;ExAC.Info.AC_Hom=235;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly103Gly/c.309C>T;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.309C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.309C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999189">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,45:70:99:1818,0,951:127	0/1:51,59:110:99:2404,0,2267:127	0/1:25,29:54:99:1223,0,1108:127
10	46999190	.	A	G	20695.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3127679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127679" target="_blank">rs3127679</a>;ExAC.Info.AC=111859;ExAC.Info.AN=125540;ExAC.Info.AF=0.891;ExAC.Info.AC_Het=12909;ExAC.Info.AC_Hom=47819;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Ggt;snpeff.Amino_Acid_Change=p.Ser104Gly/c.310A>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.310A>G_p.Ser104Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.310A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999190">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:3021,214,0:127	1|0:29,84:113:99:3292,0,681:127	1|1:0,60:60:99:2484,183,0:127
10	46999198	.	G	T	12972.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3127680;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127680" target="_blank">rs3127680</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=62716;ExAC.Info.AN=125930;ExAC.Info.AF=0.498;ExAC.Info.AC_Het=60650;ExAC.Info.AC_Hom=244;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctT;snpeff.Amino_Acid_Change=p.Leu106Leu/c.318G>T;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.318G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.318G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999198">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,47:76:99:1889,0,1054:127	0/1:52,58:110:99:2293,0,2210:127	0/1:29,32:61:99:1264,0,1070:127
10	46999465	.	A	G	12476.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3127682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127682" target="_blank">rs3127682</a>;ExAC.Info.AC=63250;ExAC.Info.AN=126470;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=61263;ExAC.Info.AC_Hom=274;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser195Ser/c.585A>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.585A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.585A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999465">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,39:60:99:1110,0,583:127	0/1:47,61:108:99:1924,0,1438:127	0/1:31,47:78:99:1426,0,908:127
10	46999484	.	G	T	4326.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11204658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11204658" target="_blank">rs11204658</a>;ExAC.Info.AC=60240;ExAC.Info.AN=126582;ExAC.Info.AF=0.476;ExAC.Info.AC_Het=59424;ExAC.Info.AC_Hom=14;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Tgg;snpeff.Amino_Acid_Change=p.Gly202Trp/c.604G>T;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.604G>T_p.Gly202Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.604G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999484">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,16:55:99:398,0,1133:127	0/1:89,20:109:99:391,0,2957:127	0/1:49,30:79:99:821,0,1514:127
10	46999577	.	G	T	4061.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11204659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11204659" target="_blank">rs11204659</a>;ExAC.Info.AC=61157;ExAC.Info.AN=126684;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=60951;ExAC.Info.AC_Hom=5;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Tct;snpeff.Amino_Acid_Change=p.Ala233Ser/c.697G>T;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.697G>T_p.Ala233Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.697G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999577">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,23:66:99:537,0,1512:127	0/1:98,29:127:99:575,0,3335:127	0/1:51,32:83:99:759,0,1741:127
10	46999591	.	C	CATGAGGGAG	15836.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs112620425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112620425" target="_blank">rs112620425</a>;ExAC.Info.AC=63482;ExAC.Info.AN=126692;ExAC.Info.AF=0.501;ExAC.Info.AC_Het=62813;ExAC.Info.AC_Hom=228;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=atg/ATGAGGGAGatg;snpeff.Amino_Acid_Change=p.Met238_Arg239insMetArgGluMet/c.712_713insATGAGGGAG;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.712_720dup9_p.Met238_Glu240dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.712_720dup9+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999591">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,48:72:99:2111,0,841:127	0/1:55,61:116:99:2692,0,2362:127	0/1:33,43:76:99:1924,0,1203:127
10	46999596	.	G	A	4544.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7895979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7895979" target="_blank">rs7895979</a>;ExAC.Info.AC=61100;ExAC.Info.AN=126694;ExAC.Info.AF=0.482;ExAC.Info.AC_Het=60853;ExAC.Info.AC_Hom=12;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg239Lys/c.716G>A;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.716G>A_p.Arg239Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.716G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999596">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,25:84:99:607,0,2315:127	0/1:105,33:138:99:727,0,4383:127	0/1:56,33:89:99:758,0,2163:127
10	46999604	.	A	G	23923.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3127683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127683" target="_blank">rs3127683</a>;ExAC.Info.AC=112051;ExAC.Info.AN=126682;ExAC.Info.AF=0.885;ExAC.Info.AC_Het=14505;ExAC.Info.AC_Hom=48536;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg242Gly/c.724A>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.724A>G_p.Arg242Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.724A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999604">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:3120,245,0:127	1|0:24,111:135:99:3742,0,430:127	1|1:0,91:91:99:3350,275,0:127
10	46999732	.	G	A	6517.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4579877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4579877" target="_blank">rs4579877</a>;ExAC.Info.AC=61269;ExAC.Info.AN=126700;ExAC.Info.AF=0.484;ExAC.Info.AC_Het=61222;ExAC.Info.AC_Hom=7;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly284Gly/c.852G>A;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.852G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.852G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999732">View</a>	GT:AD:DP:GQ:PL:TP	0/1:74,38:112:99:934,0,2113:127	0/1:153,44:197:99:891,0,4722:127	0/1:74,36:110:99:813,0,2209:127
10	46999747	.	T	C	19395.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3127821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127821" target="_blank">rs3127821</a>;ExAC.Info.AC=63562;ExAC.Info.AN=126696;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=63048;ExAC.Info.AC_Hom=229;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His289His/c.867T>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.867T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.867T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999747">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,61:100:99:1849,0,1009:127	0/1:85,107:192:99:3384,0,2345:127	0/1:33,66:99:99:2082,0,847:127
10	46999863	.	C	G	4130.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4445576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4445576" target="_blank">rs4445576</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=32967;ExAC.Info.AN=126700;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=32867;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tGc;snpeff.Amino_Acid_Change=p.Ser328Cys/c.983C>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.983C>G_p.Ser328Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.983C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:46999863">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,16:59:99:478,0,1315:127	0/1:79,25:104:99:596,0,2527:127	0/1:45,20:65:99:501,0,1488:127
10	47000004	.	T	C	31946.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3127822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127822" target="_blank">rs3127822</a>;ExAC.Info.AC=124962;ExAC.Info.AN=126694;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1731;ExAC.Info.AC_Hom=61588;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val375Ala/c.1124T>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1124T>C_p.Val375Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.1124T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47000004">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:3136,261,0:127	1|1:0,171:171:99:6418,514,0:127	1|1:0,94:94:99:3443,286,0:127
10	47000071	.	G	A	8801.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=414;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4244614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4244614" target="_blank">rs4244614</a>;ExAC.Info.AC=61220;ExAC.Info.AN=126686;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=61101;ExAC.Info.AC_Hom=5;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala397Ala/c.1191G>A;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1191G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.1191G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47000071">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,36:99:99:961,0,2496:127	0/1:146,52:198:99:1195,0,5661:127	0/1:69,48:117:99:1219,0,2746:127
10	47000079	.	T	C	17919.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=416;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3127823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127823" target="_blank">rs3127823</a>;ExAC.Info.AC=63506;ExAC.Info.AN=126678;ExAC.Info.AF=0.501;ExAC.Info.AC_Het=62916;ExAC.Info.AC_Hom=224;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu400Pro/c.1199T>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1199T>C_p.Leu400Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.1199T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47000079">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,64:98:99:1795,0,1211:127	0/1:93,114:207:99:3209,0,3168:127	0/1:42,69:111:99:2000,0,1632:127
10	47000146	.	C	T	15918.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3127684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127684" target="_blank">rs3127684</a>;ExAC.Info.AC=61836;ExAC.Info.AN=125614;ExAC.Info.AF=0.492;ExAC.Info.AC_Het=59284;ExAC.Info.AC_Hom=264;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro422Pro/c.1266C>T;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1266C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.1266C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47000146">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,51:82:99:1479,0,766:127	0/1:75,104:179:99:2976,0,2039:127	0/1:37,56:93:99:1649,0,965:127
10	47000188	.	A	G	21839.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3127824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127824" target="_blank">rs3127824</a>;ExAC.Info.AC=122052;ExAC.Info.AN=123832;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1184;ExAC.Info.AC_Hom=47390;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro436Pro/c.1308A>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374314;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374314;SAVANT_GENE=GPRIN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPRIN2" target="_blank">GPRIN2</a>;SAVANT_INFO=+/7.7kb/1/7.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1308A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPRIN2+c.1308A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47000188">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2018,168,0:127	1|1:0,120:120:99:4340,361,0:127	1|1:0,59:59:99:2267,177,0:127
10	47086915	.	C	T	3152.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=612;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs59974223;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59974223" target="_blank">rs59974223</a>;ExAC.Info.AC=21800;ExAC.Info.AN=126704;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=21779;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00842;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile44Ile/c.132C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=NPY4R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374312;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374312;SAVANT_GENE=PPYR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPYR1" target="_blank">PPYR1</a>;SAVANT_INFO=+/4.8kb/3/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.132C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPYR1+c.132C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47086915">View</a>	GT:AD:DP:GQ:PL:TP	0|0:179,0:179:99:0,538,6065:127	0|0:258,0:258:99:0,776,9451:127	0|1:116,59:175:99:1595,0,3584:127
10	47086978	.	G	A	3128.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=656;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3740294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740294" target="_blank">rs3740294</a>;ExAC.Info.AC=20939;ExAC.Info.AN=126698;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=20918;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00842;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val65Val/c.195G>A;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=NPY4R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374312;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374312;SAVANT_GENE=PPYR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPYR1" target="_blank">PPYR1</a>;SAVANT_INFO=+/4.8kb/3/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.195G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPYR1+c.195G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47086978">View</a>	GT:AD:DP:GQ:PL:TP	0|0:156,0:156:99:0,468,5605:127	0|0:284,0:284:99:0,854,10709:127	0|1:148,68:216:99:1583,0,4590:127
10	47087371	.	G	A	1452.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=495;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1048156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048156" target="_blank">rs1048156</a>;cosmic68.Histology_subtype=squamous_cell_carcinoma;ExAC.Info.AC=29322;ExAC.Info.AN=126702;ExAC.Info.AF=0.231;ExAC.Info.AC_Het=29262;ExAC.Info.AC_Hom=2;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00842;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala196Ala/c.588G>A;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=NPY4R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374312;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374312;SAVANT_GENE=PPYR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPYR1" target="_blank">PPYR1</a>;SAVANT_INFO=+/4.8kb/3/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.588G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPYR1+c.588G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47087371">View</a>	GT:AD:DP:GQ:PL:TP	0|0:158,0:158:99:0,475,5500:127	0|0:216,1:217:99:0,612,7626:127	0|1:91,29:120:99:745,0,2802:127
10	47087474	.	C	T	47756.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=647;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1129838;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1129838" target="_blank">rs1129838</a>;ExAC.Info.AC=95493;ExAC.Info.AN=126704;ExAC.Info.AF=0.754;ExAC.Info.AC_Het=31189;ExAC.Info.AC_Hom=32138;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00842;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu231Leu/c.691C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=NPY4R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374312;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374312;SAVANT_GENE=PPYR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPYR1" target="_blank">PPYR1</a>;SAVANT_INFO=+/4.8kb/3/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.691C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPYR1+c.691C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47087474">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,181:181:99:6174,543,0:127	1|1:0,287:287:99:10351,863,0:127	1|0:60,119:179:99:3619,0,1471:127
10	47087501	.	C	T	10153.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=654;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3824733;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824733" target="_blank">rs3824733</a>;ExAC.Info.AC=38820;ExAC.Info.AN=126704;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=38694;ExAC.Info.AC_Hom=18;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00842;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg240Cys/c.718C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=NPY4R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374312;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374312;SAVANT_GENE=PPYR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPYR1" target="_blank">PPYR1</a>;SAVANT_INFO=+/4.8kb/3/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.718C>T_p.Arg240Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPYR1+c.718C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47087501">View</a>	GT:AD:DP:GQ:PL:TP	0/1:124,63:187:99:1616,0,3748:127	0/1:215,76:291:99:1720,0,6673:127	0/1:125,51:176:99:1229,0,3580:127
10	47087608	.	T	C	42197.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=510;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1936339;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1936339" target="_blank">rs1936339</a>;ExAC.Info.AC=125323;ExAC.Info.AN=126702;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1376;ExAC.Info.AC_Hom=61970;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00842;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala275Ala/c.825T>C;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=NPY4R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374312;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374312;SAVANT_GENE=PPYR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPYR1" target="_blank">PPYR1</a>;SAVANT_INFO=+/4.8kb/3/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.825T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPYR1+c.825T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47087608">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,128:128:99:4213,384,0:127	1|1:0,235:235:99:8089,708,0:127	1|1:0,147:147:99:5232,442,0:127
10	47087680	.	C	T	40092.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=538;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1048157;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048157" target="_blank">rs1048157</a>;ExAC.Info.AC=95483;ExAC.Info.AN=126702;ExAC.Info.AF=0.754;ExAC.Info.AC_Het=31199;ExAC.Info.AC_Hom=32127;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00842;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His299His/c.897C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=NPY4R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374312;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374312;SAVANT_GENE=PPYR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPYR1" target="_blank">PPYR1</a>;SAVANT_INFO=+/4.8kb/3/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.897C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPYR1+c.897C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47087680">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,135:135:99:4743,406,0:127	1|1:0,255:255:99:9258,766,0:127	1|0:48,100:148:99:3040,0,1241:127
10	47087731	.	C	T	40968.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=589;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1048158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048158" target="_blank">rs1048158</a>;ExAC.Info.AC=95487;ExAC.Info.AN=126702;ExAC.Info.AF=0.754;ExAC.Info.AC_Het=31200;ExAC.Info.AC_Hom=32135;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00842;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys316Cys/c.948C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=NPY4R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374312;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374312;SAVANT_GENE=PPYR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPYR1" target="_blank">PPYR1</a>;SAVANT_INFO=+/4.8kb/3/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.948C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPYR1+c.948C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47087731">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,147:147:99:4939,442,0:127	1|1:1,258:259:99:8887,768,0:127	1|0:61,122:183:99:3762,0,1447:127
10	47087830	.	G	A	35109.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=487;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1129839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1129839" target="_blank">rs1129839</a>;ExAC.Info.AC=95467;ExAC.Info.AN=126704;ExAC.Info.AF=0.753;ExAC.Info.AC_Het=31220;ExAC.Info.AC_Hom=32109;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00842;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser349Ser/c.1047G>A;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=NPY4R;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00842" target="_blank">LINC00842</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374312;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374312;SAVANT_GENE=PPYR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPYR1" target="_blank">PPYR1</a>;SAVANT_INFO=+/4.8kb/3/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1047G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPYR1+c.1047G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47087830">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:4280,393,0:127	1|1:0,219:219:99:7654,658,0:127	1|0:44,93:137:99:2704,0,1041:127
10	47663227	.	C	T	390.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4074141;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4074141" target="_blank">rs4074141</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.249-67C>T;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=ANTXRL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447511;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANTXRL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47663227">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1159:53	0|1:23,9:32:99:214,0,710:53	0|0:18,0:18:54:0,54,663:53
10	47667380	.	C	T	7864.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4076959;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4076959" target="_blank">rs4076959</a>;ExAC.Info.AC=7192;ExAC.Info.AN=19990;ExAC.Info.AF=0.360;ExAC.Info.AC_Het=3959;ExAC.Info.AC_Hom=1317;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.474+44C>T;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=ANTXRL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447511;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANTXRL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47667380">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,59:103:99:1663,0,1352:127	0|0:97,1:98:99:0,264,3463:127	1|0:49,59:108:99:1791,0,1400:127
10	47677955	.	A	G	1486.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6602879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6602879" target="_blank">rs6602879</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.896-84A>G;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=ANTXRL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447511;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANTXRL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47677955">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1303:101	0|0:44,0:44:99:0,132,1720:101	0|1:21,26:47:99:762,0,706:101
10	47680257	.	G	C	1558.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11596494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11596494" target="_blank">rs11596494</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1045-92G>C;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=ANTXRL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447511;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANTXRL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47680257">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1304:104	0|0:58,0:58:99:0,174,2247:104	0|1:27,24:51:99:798,0,914:104
10	47701275	.	G	A	9666.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10906952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10906952" target="_blank">rs10906952</a>;ExAC.Info.AC=7007;ExAC.Info.AN=23574;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=3423;ExAC.Info.AC_Hom=973;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr617Thr/c.1851G>A;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=ANTXRL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447511;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANTXRL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47701275">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,40:82:99:1113,0,1087:127	0/1:58,53:111:99:1538,0,1678:127	0/1:40,40:80:99:1254,0,1084:127
10	47701302	.	G	C	17272.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7091749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7091749" target="_blank">rs7091749</a>;ExAC.Info.AC=15320;ExAC.Info.AN=19994;ExAC.Info.AF=0.766;ExAC.Info.AC_Het=2066;ExAC.Info.AC_Hom=4196;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro626Pro/c.1878G>C;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=ANTXRL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447511;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANTXRL" target="_blank">ANTXRL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANTXRL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47701302">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2325,228,0:127	1|1:0,102:102:99:3300,306,0:127	1|1:0,64:64:99:2084,192,0:127
10	47756004	.	T	C	4412.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=44;MQ=52.74;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3013885;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3013885" target="_blank">rs3013885</a>;ExAC.Info.AC=126406;ExAC.Info.AN=126656;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=211;ExAC.Info.AC_Hom=63043;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.493-29T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=ANXA8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA8L2" target="_blank">ANXA8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374277;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-108+8872T>C;snpeff.Amino_Acid_length=161;snpeff.Gene_Name=AL603965.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA8L2" target="_blank">ANXA8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335083;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335083:ENST00000374277;SAVANT_GENE=AL603965.1:ANXA8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL6039651:ANXA8L2" target="_blank">AL6039651:ANXA8L2</a>;SAVANT_INFO=+/23.9kb/2/2.0kb:+/16.0kb/12/2.0kb;SAVANT_LOC=5UTR:In6/7;SAVANT_HGVS=c.-13176T>C:c.493-29T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL6039651:ANXA8L2+c.-13176T>C:c.493-29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47756004">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:457,36,0:44	1|1:0,16:16:48:577,48,0:44	1|1:0,16:16:48:569,48,0:44
10	47756145	.	T	C	2520.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=37;MQ=47.87;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs200192962;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200192962" target="_blank">rs200192962</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.552+53T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=ANXA8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA8L2" target="_blank">ANXA8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374277;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-108+9013T>C;snpeff.Amino_Acid_length=161;snpeff.Gene_Name=AL603965.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA8L2" target="_blank">ANXA8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335083;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Annexin_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=ANXA8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA8L2" target="_blank">ANXA8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374277;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Annexin_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=ANXA8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA8L2" target="_blank">ANXA8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374277;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Annexin_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=ANXA8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA8L2" target="_blank">ANXA8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374277;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335083:ENST00000374277;SAVANT_GENE=AL603965.1:ANXA8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL6039651:ANXA8L2" target="_blank">AL6039651:ANXA8L2</a>;SAVANT_INFO=+/23.9kb/2/2.0kb:+/16.0kb/12/2.0kb;SAVANT_LOC=5UTR:In7/8;SAVANT_HGVS=c.-13035T>C:c.552+53T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL6039651:ANXA8L2+c.-13035T>C:c.552+53T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47756145">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,16:16:48:533,48,0:28	1|1:0,11:11:33:358,33,0:28	1|1:0,10:10:30:312,30,0:28
10	47915891	.	C	A	1041.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=91;MQ=45.40;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs192916706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=192916706" target="_blank">rs192916706</a>;cosmic68.Histology_subtype=acute_myeloid_leukaemia;ExAC.Info.AC=57953;ExAC.Info.AN=124796;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=37285;ExAC.Info.AC_Hom=8969;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tAc;snpeff.Amino_Acid_Change=p.Ser433Tyr/c.1298C>A;snpeff.Amino_Acid_length=1253;snpeff.Gene_Name=FAM21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21B" target="_blank">FAM21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358474;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358474;SAVANT_GENE=FAM21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21B" target="_blank">FAM21B</a>;SAVANT_INFO=+/55.4kb/29/4.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1298C>A_p.Ser433Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM21B+c.1298C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47915891">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,9:28:99:157,0,526:127	0/1:27,7:34:99:164,0,717:127	0/1:23,6:29:99:130,0,697:127
10	47915898	.	A	G	38.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=93;MQ=45.89;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs183064568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=183064568" target="_blank">rs183064568</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=40517;ExAC.Info.AN=124384;ExAC.Info.AF=0.326;ExAC.Info.AC_Het=33102;ExAC.Info.AC_Hom=2823;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys435Lys/c.1305A>G;snpeff.Amino_Acid_length=1253;snpeff.Gene_Name=FAM21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21B" target="_blank">FAM21B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358474;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358474;SAVANT_GENE=FAM21B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21B" target="_blank">FAM21B</a>;SAVANT_INFO=+/55.4kb/29/4.3kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1305A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM21B+c.1305A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:47915898">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,1011:38	0|0:33,0:33:99:0,99,1138:38	0|1:27,4:31:38:38,0,809:38
10	48370595	.	G	A	2008.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11204210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11204210" target="_blank">rs11204210</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=43404;ExAC.Info.AN=126494;ExAC.Info.AF=0.343;ExAC.Info.AC_Het=27071;ExAC.Info.AC_Hom=7737;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly21Gly/c.63G>A;snpeff.Amino_Acid_length=340;snpeff.Gene_Name=ZNF488;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF488" target="_blank">ZNF488</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395702;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395702;SAVANT_GENE=ZNF488;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF488" target="_blank">ZNF488</a>;SAVANT_INFO=+/18.8kb/2/3.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.63G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF488+c.63G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:48370595">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1806:127	0|1:28,41:69:99:1023,0,626:127	0|0:54,0:54:99:0,162,1899:127
10	49392575	.	C	G	17200.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs931743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=931743" target="_blank">rs931743</a>;ExAC.Info.AC=72135;ExAC.Info.AN=126660;ExAC.Info.AF=0.570;ExAC.Info.AC_Het=30118;ExAC.Info.AC_Hom=20816;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2584+34G>C;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374201;SAVANT_GENE=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;SAVANT_INFO=-/118.3kb/29/5.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2584+34G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRMPD2+c.2584+34G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49392575">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2069,168,0:127	1|1:0,75:75:99:2814,226,0:127	1|1:0,51:51:99:1783,153,0:127
10	49420205	.	C	T	5072.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs72792229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72792229" target="_blank">rs72792229</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1456-53G>A;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456C>T;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456C>T;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456C>T;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456C>T;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456C>T;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:FERM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1456C>T;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374201;SAVANT_GENE=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;SAVANT_INFO=-/118.3kb/29/5.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1456-53G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRMPD2+c.1456-53G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49420205">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,13:27:99:398,0,391:92	1|1:0,49:49:99:1735,147,0:92	0|0:31,0:31:93:0,93,1140:92
10	49440346	.	C	T	6414.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6537556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6537556" target="_blank">rs6537556</a>;ExAC.Info.AC=28832;ExAC.Info.AN=126556;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=19403;ExAC.Info.AC_Hom=3732;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.994-14G>A;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374201;SAVANT_GENE=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;SAVANT_INFO=-/118.3kb/29/5.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.994-14G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRMPD2+c.994-14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49440346">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,30:70:99:680,0,1308:127	1|1:0,60:60:99:1966,180,0:127	0|0:84,0:84:99:0,252,2921:127
10	49447720	.	G	A	1557.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55802136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55802136" target="_blank">rs55802136</a>;ExAC.Info.AC=393;ExAC.Info.AN=126704;ExAC.Info.AF=3.102e-03;ExAC.Info.AC_Het=383;ExAC.Info.AC_Hom=4;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr239Met/c.716C>T;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374201;SAVANT_GENE=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;SAVANT_INFO=-/118.3kb/29/5.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.716C>T_p.Thr239Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRMPD2+c.716C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49447720">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,14:24:99:402,0,262:90	0|0:30,0:30:90:0,90,1091:90	1|0:15,8:23:99:213,0,442:90
10	49457208	.	A	G	975.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72792251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72792251" target="_blank">rs72792251</a>;ExAC.Info.AC=363;ExAC.Info.AN=126702;ExAC.Info.AF=2.865e-03;ExAC.Info.AC_Het=362;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:KIND];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KIND];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KIND];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KIND];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KIND];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.165A>G;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr55Tyr/c.165T>C;snpeff.Amino_Acid_length=1309;snpeff.Gene_Name=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374201;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374201;SAVANT_GENE=FRMPD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRMPD2" target="_blank">FRMPD2</a>;SAVANT_INFO=-/118.3kb/29/5.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.165T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRMPD2+c.165T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49457208">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1280:112	0|1:17,17:34:99:505,0,503:112	0|0:39,0:39:99:0,117,1320:112
10	49654403	.	C	T	5577.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1051507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1051507" target="_blank">rs1051507</a>;ExAC.Info.AC=67157;ExAC.Info.AN=126684;ExAC.Info.AF=0.530;ExAC.Info.AC_Het=30399;ExAC.Info.AC_Hom=18257;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=31;snpeff.Amino_Acid_Change=c.*31G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*31G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.*31G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49654403">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,9:31:99:235,0,688:114	0|1:12,21:33:99:699,0,351:114	1|1:0,38:38:99:1362,114,0:114
10	49659559	.	C	T	24062.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10776601;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10776601" target="_blank">rs10776601</a>;ExAC.Info.AC=12282;ExAC.Info.AN=15836;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=1786;ExAC.Info.AC_Hom=3791;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1037-376G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.989-376G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.989-376G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49659559">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3335,312,0:127	1|1:0,106:106:99:3524,318,0:127	1|1:0,89:89:99:2889,267,0:127
10	49659637	.	T	C	9742.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3827681;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3827681" target="_blank">rs3827681</a>;ExAC.Info.AC=6440;ExAC.Info.AN=15204;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=2685;ExAC.Info.AC_Hom=1265;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1037-454A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.989-454A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.989-454A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49659637">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,37:71:99:995,0,1258:127	0|1:33,41:74:99:1212,0,1211:127	1|1:0,59:59:99:2165,177,0:127
10	49659644	.	A	G	4626.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72796303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72796303" target="_blank">rs72796303</a>;ExAC.Info.AC=1313;ExAC.Info.AN=16398;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=997;ExAC.Info.AC_Hom=69;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1037-461T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.989-461T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.989-461T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49659644">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,31:66:99:843,0,1408:127	1|0:36,29:65:99:887,0,1503:127	0|0:52,0:52:99:0,163,2414:127
10	49659691	.	C	A	1791.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs115507432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115507432" target="_blank">rs115507432</a>;ExAC.Info.AC=886;ExAC.Info.AN=13158;ExAC.Info.AF=0.067;ExAC.Info.AC_Het=256;ExAC.Info.AC_Hom=18;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1037-508G>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037C>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037C>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037C>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037C>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037C>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.989-508G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.989-508G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49659691">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,14:25:99:358,0,281:66	1|0:13,12:25:99:360,0,460:66	0|0:22,0:22:66:0,66,877:66
10	49661341	.	A	G	16602.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7092959;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7092959" target="_blank">rs7092959</a>;ExAC.Info.AC=114481;ExAC.Info.AN=126628;ExAC.Info.AF=0.904;ExAC.Info.AC_Het=9437;ExAC.Info.AC_Hom=52118;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1036+6T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1037T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.988+6T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.988+6T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49661341">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2323,195,0:127	1|1:0,79:79:99:2860,237,0:127	1|1:0,49:49:99:1725,147,0:127
10	49663184	.	G	A	1495.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72796308;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72796308" target="_blank">rs72796308</a>;ExAC.Info.AC=12250;ExAC.Info.AN=126114;ExAC.Info.AF=0.097;ExAC.Info.AC_Het=10630;ExAC.Info.AC_Hom=607;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.708-7C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.660-7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.660-7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49663184">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,12:20:99:347,0,235:45	1|0:7,13:20:99:363,0,213:45	0|0:15,0:15:45:0,45,560:45
10	49667713	.	G	A	20254.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1867575;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1867575" target="_blank">rs1867575</a>;ExAC.Info.AC=122113;ExAC.Info.AN=126696;ExAC.Info.AF=0.964;ExAC.Info.AC_Het=3477;ExAC.Info.AC_Hom=59233;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.707+14C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.708G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.659+14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.659+14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49667713">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2504,231,0:127	1|1:0,97:97:99:3301,291,0:127	1|1:0,82:82:99:2870,246,0:127
10	49667795	.	T	C	17679.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3853761;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3853761" target="_blank">rs3853761</a>;ExAC.Info.AC=123119;ExAC.Info.AN=126694;ExAC.Info.AF=0.972;ExAC.Info.AC_Het=2520;ExAC.Info.AC_Hom=60174;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.639T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.639T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.639T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.639T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.639T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro213Pro/c.639A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.591A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.591A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49667795">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2143,189,0:127	1|1:0,85:85:99:2763,255,0:127	1|1:0,78:78:99:2433,233,0:127
10	49687594	.	G	A	9729.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4838601;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4838601" target="_blank">rs4838601</a>;ExAC.Info.AC=122863;ExAC.Info.AN=126430;ExAC.Info.AF=0.972;ExAC.Info.AC_Het=2286;ExAC.Info.AC_Hom=55982;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.499+37C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.451+85C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.451+85C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49687594">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1402,129,0:110	1|1:0,37:37:99:1301,111,0:110	1|1:0,39:39:99:1278,117,0:110
10	49687925	.	C	G	3206.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4575219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4575219" target="_blank">rs4575219</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.323-118G>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.323-118G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.323-118G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49687925">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2447:127	0|1:26,49:75:99:1622,0,716:127	0|0:69,0:69:99:0,207,2460:127
10	49687964	.	A	C	32464.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4240513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4240513" target="_blank">rs4240513</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.323-157T>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323A>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323A>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323A>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.323-157T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.323-157T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49687964">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:4215,283,0:127	1|1:0,97:97:99:4383,295,0:127	1|1:0,99:99:99:4402,304,0:127
10	49687971	.	T	C	33839.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4240514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4240514" target="_blank">rs4240514</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.323-164A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.323-164A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.323-164A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49687971">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:4286,289,0:127	1|1:0,106:106:99:4776,325,0:127	1|1:0,103:103:99:4629,319,0:127
10	49688014	.	C	A	30752.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4838602;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4838602" target="_blank">rs4838602</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.323-207G>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.323-207G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.323-207G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49688014">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3543,324,0:127	1|1:0,151:151:99:5174,454,0:127	1|1:0,131:131:99:4302,393,0:127
10	49690351	.	T	C	49906.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=616;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1445157;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1445157" target="_blank">rs1445157</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.323-2544A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323T>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.323-2544A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.323-2544A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49690351">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,177:177:99:6185,532,0:127	1|1:0,222:222:99:7932,667,0:127	1|1:0,217:217:99:7770,652,0:127
10	49701384	.	G	A	3157.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11812546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11812546" target="_blank">rs11812546</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.323-13577C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.323-13577C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.323-13577C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49701384">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,20:36:99:622,0,416:99	1|0:23,18:41:99:567,0,670:99	0|0:33,0:33:99:0,99,1123:99
10	49701445	.	C	T	4883.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs9663545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9663545" target="_blank">rs9663545</a>;ExAC.Info.AC=5257;ExAC.Info.AN=26268;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=2732;ExAC.Info.AC_Hom=687;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.323-13638G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.323-13638G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.323-13638G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49701445">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,27:48:99:735,0,598:108	0|0:59,0:59:99:0,177,2013:108	1|1:0,36:36:99:1178,108,0:108
10	49732141	.	C	T	3527.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=49;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs7089439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7089439" target="_blank">rs7089439</a>;ExAC.Info.AC=2396;ExAC.Info.AN=13620;ExAC.Info.AF=0.176;ExAC.Info.AC_Het=1695;ExAC.Info.AC_Hom=226;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.322+31367G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.323C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.322+31367G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.322+31367G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49732141">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,14:14:42:501,42,0:42	1|0:8,12:20:99:409,0,267:42	1|0:9,6:15:99:185,0,327:42
10	49763618	.	C	T	3793.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1838570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1838570" target="_blank">rs1838570</a>;ExAC.Info.AC=20440;ExAC.Info.AN=126700;ExAC.Info.AF=0.161;ExAC.Info.AC_Het=16371;ExAC.Info.AC_Hom=1999;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.235-23G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.235-23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.235-23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49763618">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,21:61:99:461,0,1274:127	0|0:81,0:81:99:0,243,2678:127	1|0:27,25:52:99:646,0,672:127
10	49763677	.	A	C	2492.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1838569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1838569" target="_blank">rs1838569</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.235-82T>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235A>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235A>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235A>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.235-82T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.235-82T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49763677">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,12:42:99:286,0,803:120	0|0:40,0:40:99:0,120,1397:120	1|0:18,17:35:99:446,0,555:120
10	49790972	.	C	T	3475.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2289808;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2289808" target="_blank">rs2289808</a>;ExAC.Info.AC=46062;ExAC.Info.AN=126694;ExAC.Info.AF=0.364;ExAC.Info.AC_Het=25667;ExAC.Info.AC_Hom=10133;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234+26G>A;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.235C>T;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.234+26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.234+26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49790972">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,20:41:99:567,0,670:127	0|0:49,0:49:99:0,147,1753:127	1|0:20,27:47:99:844,0,610:127
10	49804624	.	T	C	5334.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56333519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56333519" target="_blank">rs56333519</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.34+8184A>G;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.34+8184A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.34+8184A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49804624">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,28:63:99:905,0,979:127	0|0:83,0:83:99:0,250,2945:127	1|0:27,35:62:99:1105,0,797:127
10	49804785	.	T	G	25922.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10745280;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10745280" target="_blank">rs10745280</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.34+8023A>C;snpeff.Amino_Acid_length=714;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417912;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000249601;SAVANT_GENE=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=-/159.1kb/10/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.34+8023A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+c.34+8023A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49804785">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:3312,274,0:127	1|1:0,118:118:99:4198,355,0:127	1|1:0,96:96:99:3414,288,0:127
10	49860258	.	A	G	17370.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=219;MQ=69.98;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2377614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2377614" target="_blank">rs2377614</a>;ExAC.Info.AC=7444;ExAC.Info.AN=15442;ExAC.Info.AF=0.482;ExAC.Info.AC_Het=2796;ExAC.Info.AC_Hom=1669;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ARHGAP22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP22" target="_blank">ARHGAP22</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP22+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49860258">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,63:64:99:2250,152,0:127	1|1:0,80:80:99:3081,241,0:127	1|0:35,40:75:99:1222,0,1039:127
10	49929491	.	A	C	5522.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10857625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10857625" target="_blank">rs10857625</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.456+79A>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.456+79A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.456+79A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49929491">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,44:65:99:1348,0,506:127	0|0:100,0:100:99:0,300,3374:127	1|0:39,30:69:99:837,0,1107:127
10	49939139	.	T	A	18924.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1993986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1993986" target="_blank">rs1993986</a>;ExAC.Info.AC=11717;ExAC.Info.AN=26790;ExAC.Info.AF=0.437;ExAC.Info.AC_Het=4571;ExAC.Info.AC_Hom=2160;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1130-16T>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1130-16T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.1130-16T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49939139">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,62:133:99:1776,0,2071:127	1|1:0,134:134:99:4570,402,0:127	0|1:65,65:130:99:1736,0,1822:127
10	49968492	.	G	A	3975.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72789234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72789234" target="_blank">rs72789234</a>;ExAC.Info.AC=77;ExAC.Info.AN=26560;ExAC.Info.AF=2.899e-03;ExAC.Info.AC_Het=76;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2553+7G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2554G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2553+7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.2553+7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49968492">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,25:50:99:674,0,704:127	0|0:55,1:56:99:0,128,1884:127	1|0:33,34:67:99:926,0,904:127
10	49997881	.	A	G	8943.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41282003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41282003" target="_blank">rs41282003</a>;ExAC.Info.AC=1456;ExAC.Info.AN=34308;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=1334;ExAC.Info.AC_Hom=43;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3955-38A>G;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.3955-38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.3955-38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49997881">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,47:114:99:1261,0,1936:127	1|0:77,69:146:99:1813,0,2268:127	0|0:127,0:127:99:0,381,4598:127
10	49998824	.	C	T	10607.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10857644;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10857644" target="_blank">rs10857644</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=3456;ExAC.Info.AN=29272;ExAC.Info.AF=0.118;ExAC.Info.AC_Het=2656;ExAC.Info.AC_Hom=283;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly1373Gly/c.4119C>T;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.4119C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.4119C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:49998824">View</a>	GT:AD:DP:GQ:PL:TP	0|1:73,67:140:99:1847,0,2090:127	1|0:67,84:151:99:2388,0,2074:127	0|0:116,0:116:99:0,348,4076:127
10	50013402	.	T	C	7172.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2170132;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2170132" target="_blank">rs2170132</a>;ExAC.Info.AC=11556;ExAC.Info.AN=30328;ExAC.Info.AF=0.381;ExAC.Info.AC_Het=5603;ExAC.Info.AC_Hom=2409;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Ccc;snpeff.Amino_Acid_Change=p.Ser1528Pro/c.4582T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.4582T>C_p.Ser1528Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.4582T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50013402">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,32:73:99:955,0,1161:127	1|0:42,60:102:99:1739,0,1116:127	0|0:115,0:115:99:0,345,3900:127
10	50022040	.	G	A	3945.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41283275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41283275" target="_blank">rs41283275</a>;ExAC.Info.AC=3506;ExAC.Info.AN=27904;ExAC.Info.AF=0.126;ExAC.Info.AC_Het=2709;ExAC.Info.AC_Hom=243;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg1751Arg/c.5253G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.5253G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.5253G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50022040">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,22:42:99:570,0,564:127	1|0:32,29:61:99:800,0,1007:127	0|0:49,0:49:99:0,147,1724:127
10	50025396	.	G	A	9061.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.Polyphen2HdivPred=D|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7097397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7097397" target="_blank">rs7097397</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Systemic_lupus_erythematosus|_association_with;hgmd_2014.2.OMIM_ID=613316;hgmd_2014.2.PubMed=20169177;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20169177" target="_blank">20169177</a>;ExAC.Info.AC=9853;ExAC.Info.AN=28434;ExAC.Info.AF=0.347;ExAC.Info.AC_Het=5278;ExAC.Info.AC_Hom=1787;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg1816Gln/c.5447G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5447G>A_p.Arg1816Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.5447G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50025396">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,34:90:99:934,0,1675:127	0/1:64,47:111:99:1324,0,1839:127	0/1:50,42:92:99:1164,0,1437:127
10	50025446	.	G	T	8837.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12268007;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12268007" target="_blank">rs12268007</a>;ExAC.Info.AC=3679;ExAC.Info.AN=28316;ExAC.Info.AF=0.130;ExAC.Info.AC_Het=2721;ExAC.Info.AC_Hom=281;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Tcc;snpeff.Amino_Acid_Change=p.Ala1833Ser/c.5497G>T;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5497G>T_p.Ala1833Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.5497G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50025446">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,65:110:99:1762,0,1224:127	1|0:42,78:120:99:2129,0,1249:127	0|0:108,0:108:99:0,324,3806:127
10	50028308	.	C	T	3956.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=N;dbSNP139.ID=rs41283279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41283279" target="_blank">rs41283279</a>;ExAC.Info.AC=1220;ExAC.Info.AN=28964;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=1057;ExAC.Info.AC_Hom=32;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr1845Thr/c.5535C>T;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.5535C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.5535C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50028308">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,22:42:99:613,0,606:127	1|0:48,27:75:99:685,0,1522:127	0|0:43,0:43:99:0,129,1570:127
10	50031145	.	A	G	9942.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=474;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11101515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11101515" target="_blank">rs11101515</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5982+563A>G;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In34/35;SAVANT_HGVS=c.5982+563A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.5982+563A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50031145">View</a>	GT:AD:DP:GQ:PL:TP	0|1:84,73:157:99:2044,0,2164:127	1|0:108,65:173:99:1948,0,3047:127	0|0:144,0:144:99:0,433,4926:127
10	50031212	.	CT	C	9136.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=492;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs113439641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113439641" target="_blank">rs113439641</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5982+631delT;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In34/35;SAVANT_HGVS=c.5982+642delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.5982+642delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50031212">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,91:158:99:1887,0,1293:42	1|0:90,96:186:99:1981,0,1801:42	0|0:133,15:148:42:0,42,3102:42
10	50034833	.	G	A	8163.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6537579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6537579" target="_blank">rs6537579</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=4347;ExAC.Info.AN=28864;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=3273;ExAC.Info.AC_Hom=423;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly2034Ser/c.6100G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.6100G>A_p.Gly2034Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.6100G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50034833">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,55:98:99:1501,0,1193:127	1|0:76,59:135:99:1744,0,2063:127	0|0:112,0:112:99:0,336,3779:127
10	50034986	.	TGGTGGTCCATG	T	4432.98	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs78512600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78512600" target="_blank">rs78512600</a>;ExAC.Info.AC=3952;ExAC.Info.AN=27472;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=3110;ExAC.Info.AC_Hom=352;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6221+33_6221+43delGGTGGTCCATG;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.6221+33_6221+43del11;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.6221+33_6221+43del11+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50034986">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,26:47:99:1019,0,1324:63	1|0:16,25:41:99:988,0,840:63	0|0:21,0:21:63:0,63,1517:63
10	50036972	.	C	G	401.49	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=19;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3789321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3789321" target="_blank">rs3789321</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6340+31C>G;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In36/37;SAVANT_HGVS=c.6340+31C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.6340+31C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50036972">View</a>	GT:AD:DP:GQ:PL:TP	0|1:2,1:3:31:31,0,62:6	1|1:0,2:2:6:68,6,0:6	0|1:10,4:14:43:43,0,306:6
10	50038800	.	A	G	7736.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3747874;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747874" target="_blank">rs3747874</a>;ExAC.Info.AC=15751;ExAC.Info.AN=28604;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=5920;ExAC.Info.AC_Hom=4322;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln2132Gln/c.6396A>G;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.6396A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.6396A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50038800">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1152,99,0:98	1|1:0,36:36:99:1184,108,0:98	1|0:19,13:32:99:333,0,595:98
10	50038878	.	G	C	3914.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41283281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41283281" target="_blank">rs41283281</a>;ExAC.Info.AC=1443;ExAC.Info.AN=28692;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=1255;ExAC.Info.AC_Hom=44;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu2158Asp/c.6474G>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.6474G>C_p.Glu2158Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.6474G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50038878">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,22:49:99:488,0,698:127	1|0:24,24:48:99:638,0,705:127	0|0:49,0:49:99:0,147,1675:127
10	50040562	.	A	G	29702.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=425;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3747873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747873" target="_blank">rs3747873</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6527-56A>G;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In37/38;SAVANT_HGVS=c.6527-56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.6527-56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50040562">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:4814,394,0:127	1|1:0,159:159:99:6089,478,0:127	1|0:74,61:135:99:1802,0,2166:127
10	50040610	.	T	G	45399.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=662;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3747872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747872" target="_blank">rs3747872</a>;ExAC.Info.AC=11620;ExAC.Info.AN=28522;ExAC.Info.AF=0.407;ExAC.Info.AC_Het=6091;ExAC.Info.AC_Hom=2465;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6527-8T>G;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6527T>G;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In37/38;SAVANT_HGVS=c.6527-8T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.6527-8T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50040610">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,211:211:99:7551,633,0:127	1|1:0,238:238:99:8706,715,0:127	1|0:117,96:213:99:2748,0,3206:127
10	50083111	.	T	C	37143.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=578;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2620881;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2620881" target="_blank">rs2620881</a>;ExAC.Info.AC=9298;ExAC.Info.AN=26112;ExAC.Info.AF=0.356;ExAC.Info.AC_Het=5484;ExAC.Info.AC_Hom=1759;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6949-23T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In40/41;SAVANT_HGVS=c.6949-23T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.6949-23T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50083111">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,172:172:99:5935,516,0:127	1|1:0,213:213:99:7298,639,0:127	1|0:90,103:193:99:2828,0,2332:127
10	50085267	.	C	G	8213.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1904595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1904595" target="_blank">rs1904595</a>;ExAC.Info.AC=9175;ExAC.Info.AN=26408;ExAC.Info.AF=0.347;ExAC.Info.AC_Het=5203;ExAC.Info.AC_Hom=1612;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7167+23C>G;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In42/43;SAVANT_HGVS=c.7167+23C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.7167+23C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50085267">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1535,132,0:122	1|1:0,41:41:99:1511,123,0:122	1|0:12,17:29:99:519,0,329:122
10	50098739	.	G	C	8895.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41283283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41283283" target="_blank">rs41283283</a>;ExAC.Info.AC=1397;ExAC.Info.AN=28068;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=1248;ExAC.Info.AC_Hom=47;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.174-6354C>G;snpeff.Gene_Name=RP11-523O18.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000430438;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGt/gCt;snpeff.Amino_Acid_Change=p.Gly2428Ala/c.7283G>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex43;SAVANT_HGVS=c.7283G>C_p.Gly2428Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.7283G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50098739">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,54:102:99:1601,0,1397:127	1|0:76,66:142:99:1859,0,2022:127	0|0:105,0:105:99:0,315,3626:127
10	50109902	.	G	A	12890.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2663046;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2663046" target="_blank">rs2663046</a>;ExAC.Info.AC=25986;ExAC.Info.AN=26292;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=205;ExAC.Info.AC_Hom=12081;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.174-17517C>T;snpeff.Gene_Name=RP11-523O18.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000430438;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7580G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7580G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7580G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7580G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7580G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7580G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7580G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7580G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7580G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser2527Asn/c.7580G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O187" target="_blank">RP11-523O187</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex46;SAVANT_HGVS=c.7580G>A_p.Ser2527Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.7580G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50109902">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1396,126,0:86	1|1:0,69:69:99:2364,207,0:86	1|1:1,39:40:86:1314,86,0:86
10	50121454	.	G	A	5064.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41302987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41302987" target="_blank">rs41302987</a>;ExAC.Info.AC=5652;ExAC.Info.AN=126698;ExAC.Info.AF=0.045;ExAC.Info.AC_Het=5357;ExAC.Info.AC_Hom=146;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7586+11546G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.173+19077C>T;snpeff.Gene_Name=RP11-523O18.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000430438;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp249Asp/c.747C>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=LRRC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374160;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239:ENST00000374160;SAVANT_GENE=WDFY4:LRRC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4:LRRC18" target="_blank">WDFY4:LRRC18</a>;SAVANT_INFO=+/273.3kb/61/10.0kb:-/4.8kb/2/1.6kb;SAVANT_LOC=In46/47:Ex1;SAVANT_HGVS=c.7586+11546G>A:c.747C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4:LRRC18+c.7586+11546G>A:c.747C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50121454">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,25:55:99:637,0,883:110	1|0:28,38:66:99:1161,0,805:110	0|0:37,0:37:99:0,111,1383:110
10	50121784	.	T	C	8508.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10776653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10776653" target="_blank">rs10776653</a>;ExAC.Info.AC=67265;ExAC.Info.AN=126688;ExAC.Info.AF=0.531;ExAC.Info.AC_Het=30311;ExAC.Info.AC_Hom=18338;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7586+11876T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.173+18747A>G;snpeff.Gene_Name=RP11-523O18.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000430438;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.417T>C;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=LRRC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374160;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587T>C;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr139Thr/c.417A>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=LRRC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374160;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239:ENST00000374160;SAVANT_GENE=WDFY4:LRRC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4:LRRC18" target="_blank">WDFY4:LRRC18</a>;SAVANT_INFO=+/273.3kb/61/10.0kb:-/4.8kb/2/1.6kb;SAVANT_LOC=In46/47:Ex1;SAVANT_HGVS=c.7586+11876T>C:c.417A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4:LRRC18+c.7586+11876T>C:c.417A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50121784">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,41:99:99:1207,0,1693:127	0/1:57,46:103:99:1360,0,1646:127	0/1:54,28:82:99:757,0,1702:127
10	50122181	.	C	A	6218.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7094610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7094610" target="_blank">rs7094610</a>;ExAC.Info.AC=44915;ExAC.Info.AN=126684;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=26841;ExAC.Info.AC_Hom=8964;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7586+12273C>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.173+18350G>T;snpeff.Gene_Name=RP11-523O18.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000430438;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587C>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587C>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587C>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587C>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587C>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587C>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587C>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587C>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BEACH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7587C>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gTc;snpeff.Amino_Acid_Change=p.Gly7Val/c.20G>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=LRRC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374160;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239:ENST00000374160;SAVANT_GENE=WDFY4:LRRC18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4:LRRC18" target="_blank">WDFY4:LRRC18</a>;SAVANT_INFO=+/273.3kb/61/10.0kb:-/4.8kb/2/1.6kb;SAVANT_LOC=In46/47:Ex1;SAVANT_HGVS=c.7586+12273C>A:c.20G>T_p.Gly7Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4:LRRC18+c.7586+12273C>A:c.20G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50122181">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,27:61:99:661,0,895:127	0/1:51,40:91:99:1055,0,1489:127	0/1:34,37:71:99:886,0,976:127
10	50184949	.	C	T	7697.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2271565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271565" target="_blank">rs2271565</a>;ExAC.Info.AC=11319;ExAC.Info.AN=29596;ExAC.Info.AF=0.382;ExAC.Info.AC_Het=5433;ExAC.Info.AC_Hom=2336;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1260G>A;snpeff.Gene_Name=RP11-523O18.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O185" target="_blank">RP11-523O185</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428825;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9216C>T;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O185" target="_blank">RP11-523O185</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9216C>T;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O185" target="_blank">RP11-523O185</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys3072Cys/c.9216C>T;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O185" target="_blank">RP11-523O185</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex58;SAVANT_HGVS=c.9216C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.9216C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50184949">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,24:55:99:605,0,891:127	0|1:42,19:61:99:523,0,1283:127	1|1:0,62:62:99:1961,186,0:127
10	50186317	.	G	A	6010.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2292585;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292585" target="_blank">rs2292585</a>;ExAC.Info.AC=12050;ExAC.Info.AN=24890;ExAC.Info.AF=0.484;ExAC.Info.AC_Het=4861;ExAC.Info.AC_Hom=2902;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1063+473C>T;snpeff.Gene_Name=RP11-523O18.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O185" target="_blank">RP11-523O185</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428825;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9292-37G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O185" target="_blank">RP11-523O185</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9292G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O185" target="_blank">RP11-523O185</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9292G>A;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O185" target="_blank">RP11-523O185</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=In58/59;SAVANT_HGVS=c.9292-37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.9292-37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50186317">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,41:70:99:1394,0,869:127	1|0:36,30:66:99:984,0,1146:127	0|0:49,0:49:99:0,147,1822:127
10	50186415	.	C	T	11907.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2292584;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292584" target="_blank">rs2292584</a>;ExAC.Info.AC=11592;ExAC.Info.AN=29466;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=5402;ExAC.Info.AC_Hom=2432;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1063+375G>A;snpeff.Gene_Name=RP11-523O18.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O185" target="_blank">RP11-523O185</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428825;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro3118Leu/c.9353C>T;snpeff.Amino_Acid_length=3184;snpeff.Gene_Name=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-523O185" target="_blank">RP11-523O185</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325239;snpeff.Exon_Rank=59;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325239;SAVANT_GENE=WDFY4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDFY4" target="_blank">WDFY4</a>;SAVANT_INFO=+/273.3kb/61/10.0kb;SAVANT_LOC=Ex59;SAVANT_HGVS=c.9353C>T_p.Pro3118Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDFY4+c.9353C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50186415">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,38:71:99:1056,0,857:127	0|1:39,37:76:99:1156,0,1027:127	1|1:0,88:88:99:3007,264,0:127
10	50227785	.	T	C	12753.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1913525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1913525" target="_blank">rs1913525</a>;ExAC.Info.AC=124599;ExAC.Info.AN=126702;ExAC.Info.AF=0.983;ExAC.Info.AC_Het=1706;ExAC.Info.AC_Hom=61426;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu291Glu/c.873A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332853;SAVANT_GENE=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;SAVANT_INFO=-/97.1kb/8/2.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.873A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VSTM4+c.873A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50227785">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1615,155,0:127	1|1:0,55:55:99:1891,165,0:127	1|1:0,63:63:99:2118,189,0:127
10	50315893	.	A	G	7248.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13088;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13088" target="_blank">rs13088</a>;ExAC.Info.AC=54199;ExAC.Info.AN=126702;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=29286;ExAC.Info.AC_Hom=12430;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.203A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.203A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.203A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.203A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.203A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.203A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tCc;snpeff.Amino_Acid_Change=p.Phe68Ser/c.203T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332853;SAVANT_GENE=VSTM4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VSTM4" target="_blank">VSTM4</a>;SAVANT_INFO=-/97.1kb/8/2.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.203T>C_p.Phe68Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VSTM4+c.203T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50315893">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,405,4397:127	0|1:103,74:177:99:1982,0,2647:127	0|1:71,61:132:99:1662,0,1878:127
10	50339925	.	G	A	1218.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12765281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12765281" target="_blank">rs12765281</a>;ExAC.Info.AC=6261;ExAC.Info.AN=28754;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=4067;ExAC.Info.AC_Hom=756;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.439-3776G>A;snpeff.Gene_Name=FAM170B-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B-AS1" target="_blank">FAM170B-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442525;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp195Asp/c.585C>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=FAM170B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B-AS1" target="_blank">FAM170B-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311787;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311787;SAVANT_GENE=FAM170B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B" target="_blank">FAM170B</a>;SAVANT_INFO=-/2.9kb/2/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.585C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM170B+c.585C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50339925">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,253,3117:127	0|0:89,0:89:99:0,268,3353:127	0|1:38,24:62:99:628,0,1303:127
10	50340304	.	C	A	3070.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17773851;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17773851" target="_blank">rs17773851</a>;ExAC.Info.AC=8121;ExAC.Info.AN=42596;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=4314;ExAC.Info.AC_Hom=791;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.439-3397C>A;snpeff.Gene_Name=FAM170B-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B-AS1" target="_blank">FAM170B-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442525;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cTg;snpeff.Amino_Acid_Change=p.Arg69Leu/c.206G>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=FAM170B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B-AS1" target="_blank">FAM170B-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311787;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311787;SAVANT_GENE=FAM170B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B" target="_blank">FAM170B</a>;SAVANT_INFO=-/2.9kb/2/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.206G>T_p.Arg69Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM170B+c.206G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50340304">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,297,3261:127	0|0:103,0:103:99:0,310,3491:127	0|1:38,55:93:99:1554,0,991:127
10	50341954	.	A	G	1402.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34110351;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34110351" target="_blank">rs34110351</a>;ExAC.Info.AC=6340;ExAC.Info.AN=27850;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=4226;ExAC.Info.AC_Hom=779;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.439-1747A>G;snpeff.Gene_Name=FAM170B-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B-AS1" target="_blank">FAM170B-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442525;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Cac;snpeff.Amino_Acid_Change=p.Tyr4His/c.10T>C;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=FAM170B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B-AS1" target="_blank">FAM170B-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311787;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311787;SAVANT_GENE=FAM170B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B" target="_blank">FAM170B</a>;SAVANT_INFO=-/2.9kb/2/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.10T>C_p.Tyr4His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM170B+c.10T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50341954">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2221:127	0|0:87,0:87:99:0,261,2976:127	0|1:43,28:71:99:720,0,1126:127
10	50342008	.	T	A	1570.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61848432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61848432" target="_blank">rs61848432</a>;ExAC.Info.AC=1792;ExAC.Info.AN=28652;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=1527;ExAC.Info.AC_Hom=79;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.439-1693T>A;snpeff.Gene_Name=FAM170B-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B-AS1" target="_blank">FAM170B-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000442525;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=45;snpeff.Amino_Acid_Change=c.-45A>T;snpeff.Amino_Acid_length=283;snpeff.Gene_Name=FAM170B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B-AS1" target="_blank">FAM170B-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311787;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311787;SAVANT_GENE=FAM170B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM170B" target="_blank">FAM170B</a>;SAVANT_INFO=-/2.9kb/2/1.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-45A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM170B+c.-45A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50342008">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1607:113	0|1:36,29:65:99:803,0,1025:113	0|0:38,0:38:99:0,114,1285:113
10	50374930	.	C	T	1368.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs45563932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45563932" target="_blank">rs45563932</a>;ExAC.Info.AC=17921;ExAC.Info.AN=125514;ExAC.Info.AF=0.143;ExAC.Info.AC_Het=14451;ExAC.Info.AC_Hom=1725;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr74Thr/c.222G>A;snpeff.Amino_Acid_length=172;snpeff.Gene_Name=C10orf128;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf128" target="_blank">C10orf128</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374151;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000474718;SAVANT_GENE=C10orf128;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf128" target="_blank">C10orf128</a>;SAVANT_INFO=-/32.7kb/6/0.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.222G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf128+c.222G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50374930">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2738:127	0|0:86,0:86:99:0,258,2974:127	0|1:39,25:64:99:703,0,1155:127
10	50531604	.	T	C	15406.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7093235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7093235" target="_blank">rs7093235</a>;ExAC.Info.AC=123432;ExAC.Info.AN=124862;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1221;ExAC.Info.AC_Hom=60453;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu338Leu/c.1014T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=C10orf71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf71" target="_blank">C10orf71</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374144;SAVANT_GENE=C10orf71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf71" target="_blank">C10orf71</a>;SAVANT_INFO=+/28.3kb/3/5.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1014T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf71+c.1014T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50531604">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2502,208,0:127	1|1:0,70:70:99:2523,211,0:127	1|1:0,49:49:99:1702,147,0:127
10	50532683	.	T	C	15013.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7921186;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7921186" target="_blank">rs7921186</a>;ExAC.Info.AC=123582;ExAC.Info.AN=124808;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=1053;ExAC.Info.AC_Hom=60922;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tCc;snpeff.Amino_Acid_Change=p.Phe698Ser/c.2093T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=C10orf71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf71" target="_blank">C10orf71</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374144;SAVANT_GENE=C10orf71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf71" target="_blank">C10orf71</a>;SAVANT_INFO=+/28.3kb/3/5.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2093T>C_p.Phe698Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf71+c.2093T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50532683">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2326,192,0:127	1|1:0,65:65:99:2447,195,0:127	1|1:0,45:45:99:1665,135,0:127
10	50533617	.	T	C	30682.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2377940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2377940" target="_blank">rs2377940</a>;ExAC.Info.AC=26798;ExAC.Info.AN=28660;ExAC.Info.AF=0.935;ExAC.Info.AC_Het=1164;ExAC.Info.AC_Hom=11317;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly1009Gly/c.3027T>C;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=C10orf71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf71" target="_blank">C10orf71</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374144;SAVANT_GENE=C10orf71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf71" target="_blank">C10orf71</a>;SAVANT_INFO=+/28.3kb/3/5.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.3027T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf71+c.3027T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50533617">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3770,339,0:127	1|1:1,132:133:99:4381,372,0:127	1|1:0,135:135:99:4669,406,0:127
10	50533776	.	C	G	20668.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10857471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10857471" target="_blank">rs10857471</a>;ExAC.Info.AC=10719;ExAC.Info.AN=27318;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=5459;ExAC.Info.AC_Hom=2067;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro1062Pro/c.3186C>G;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=C10orf71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf71" target="_blank">C10orf71</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374144;SAVANT_GENE=C10orf71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf71" target="_blank">C10orf71</a>;SAVANT_INFO=+/28.3kb/3/5.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.3186C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf71+c.3186C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50533776">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2838,245,0:127	1|1:0,95:95:99:3350,285,0:127	1|1:0,71:71:99:2532,213,0:127
10	50534599	.	G	A	15699.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10857472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10857472" target="_blank">rs10857472</a>;ExAC.Info.AC=9942;ExAC.Info.AN=27626;ExAC.Info.AF=0.360;ExAC.Info.AC_Het=4282;ExAC.Info.AC_Hom=1700;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly1337Ser/c.4009G>A;snpeff.Amino_Acid_length=1435;snpeff.Gene_Name=C10orf71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf71" target="_blank">C10orf71</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374144;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374144;SAVANT_GENE=C10orf71;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf71" target="_blank">C10orf71</a>;SAVANT_INFO=+/28.3kb/3/5.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.4009G>A_p.Gly1337Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf71+c.4009G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50534599">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2147,189,0:125	1|1:0,72:72:99:2671,217,0:125	1|1:1,52:53:99:1896,125,0:125
10	50681033	.	G	A	29617.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=918;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3)|Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3);dbSNP139.ID=rs2229760;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229760" target="_blank">rs2229760</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=42769;ExAC.Info.AN=126702;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=27309;ExAC.Info.AC_Hom=7668;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116996;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2751G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2751G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2751G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2751G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2751G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly917Gly/c.2751C>T;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355832;SAVANT_GENE=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;SAVANT_INFO=-/83.7kb/21/8.0kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2751C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERCC6+c.2751C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50681033">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116996" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:136,129:265:99:3498,0,3825:127	0|0:351,2:353:99:0,982,11394:127	1|1:0,300:300:99:9883,900,0:127
10	50683438	.	T	C	6960.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3)|Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3);dbSNP139.ID=rs4838522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4838522" target="_blank">rs4838522</a>;ExAC.Info.AC=1999;ExAC.Info.AN=14734;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=1499;ExAC.Info.AC_Hom=220;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2382+823A>G;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355832;SAVANT_GENE=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;SAVANT_INFO=-/83.7kb/21/8.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2382+823A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERCC6+c.2382+823A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50683438">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,50:83:99:1439,0,855:127	1|0:49,62:111:99:1819,0,1273:127	0|0:81,0:81:99:0,243,2626:127
10	50691360	.	T	C	37623.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=615;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3)|Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3);dbSNP139.ID=rs4253162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4253162" target="_blank">rs4253162</a>;ExAC.Info.AC=115011;ExAC.Info.AN=126700;ExAC.Info.AF=0.908;ExAC.Info.AC_Het=10074;ExAC.Info.AC_Hom=52425;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1992+32A>G;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1993T>C;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1993T>C;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1993T>C;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1993T>C;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355832;SAVANT_GENE=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;SAVANT_INFO=-/83.7kb/21/8.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1992+32A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERCC6+c.1992+32A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50691360">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,183:183:99:6807,550,0:127	1|0:122,116:238:99:3457,0,3926:127	1|1:0,194:194:99:6927,583,0:127
10	50701156	.	G	A	17665.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3)|Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3);dbSNP139.ID=rs4253132;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4253132" target="_blank">rs4253132</a>;ExAC.Info.AC=112599;ExAC.Info.AN=126692;ExAC.Info.AF=0.889;ExAC.Info.AC_Het=11910;ExAC.Info.AC_Hom=50165;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1821+7C>T;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1822G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1822G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1822G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1822G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1822C>T;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355832;SAVANT_GENE=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;SAVANT_INFO=-/83.7kb/21/8.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1821+7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERCC6+c.1821+7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50701156">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2706,261,0:127	1|0:50,47:97:99:1253,0,1547:127	1|1:0,117:117:99:4183,352,0:127
10	50723684	.	G	A	36051.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=535;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3)|Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3);dbSNP139.ID=rs4253073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4253073" target="_blank">rs4253073</a>;ExAC.Info.AC=115014;ExAC.Info.AN=126702;ExAC.Info.AF=0.908;ExAC.Info.AC_Het=10079;ExAC.Info.AC_Hom=52449;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1397+8395C>T;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Nuclear_localization_signal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1398G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Nuclear_localization_signal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1398G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu961Leu/c.2881C>T;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=ERCC6-PGBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000515869;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu961Leu/c.2881C>T;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=PGBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000603152;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000515869:ENST00000374127:ENST00000355832;SAVANT_GENE=RP11-123B3.6:PGBD3:ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-123B36:PGBD3:ERCC6" target="_blank">RP11-123B36:PGBD3:ERCC6</a>;SAVANT_INFO=-/24.3kb/6/3.4kb:-/9.1kb/2/2.2kb:-/83.7kb/21/8.0kb;SAVANT_LOC=Ex6:Ex2:In5/6;SAVANT_HGVS=c.2881C>T_p.=:c.1477C>T_p.=:c.1397+8395C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:SC:INTR;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-123B36:PGBD3:ERCC6+c.2881C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50723684">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,168:168:99:5750,505,0:127	1|0:86,98:184:99:2933,0,2698:127	1|1:0,183:183:99:6395,550,0:127
10	50724016	.	C	T	34762.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3)|Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4253072;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4253072" target="_blank">rs4253072</a>;ExAC.Info.AC=126487;ExAC.Info.AN=126704;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=211;ExAC.Info.AC_Hom=63107;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1397+8063G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Nuclear_localization_signal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1398C>T;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Nuclear_localization_signal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1398C>T;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGa/aAa;snpeff.Amino_Acid_Change=p.Arg850Lys/c.2549G>A;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=ERCC6-PGBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000515869;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGa/aAa;snpeff.Amino_Acid_Change=p.Arg850Lys/c.2549G>A;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=PGBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6" target="_blank">ERCC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000603152;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000515869:ENST00000374127:ENST00000355832;SAVANT_GENE=RP11-123B3.6:PGBD3:ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-123B36:PGBD3:ERCC6" target="_blank">RP11-123B36:PGBD3:ERCC6</a>;SAVANT_INFO=-/24.3kb/6/3.4kb:-/9.1kb/2/2.2kb:-/83.7kb/21/8.0kb;SAVANT_LOC=Ex6:Ex2:In5/6;SAVANT_HGVS=c.2549G>A_p.Arg850Lys:c.1145G>A_p.Arg382Lys:c.1397+8063G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:NSC:INTR;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-123B36:PGBD3:ERCC6+c.2549G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50724016">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:4794,445,0:127	1|1:0,180:180:99:6171,541,0:127	1|1:0,120:120:99:4028,361,0:127
10	50736420	.	C	T	5112.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3)|Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3);dbSNP139.ID=rs72793796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72793796" target="_blank">rs72793796</a>;ExAC.Info.AC=563;ExAC.Info.AN=126698;ExAC.Info.AF=4.444e-03;ExAC.Info.AC_Het=559;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.652+43G>A;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=PGBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGBD3" target="_blank">PGBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000603152;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.652+43G>A;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=ERCC6-PGBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGBD3" target="_blank">PGBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000515869;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.652+43G>A;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGBD3" target="_blank">PGBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000515869:ENST00000355832;SAVANT_GENE=RP11-123B3.6:ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-123B36:ERCC6" target="_blank">RP11-123B36:ERCC6</a>;SAVANT_INFO=-/24.3kb/6/3.4kb:-/83.7kb/21/8.0kb;SAVANT_LOC=In4/5:In4/5;SAVANT_HGVS=c.652+43G>A:c.652+43G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-123B36:ERCC6+c.652+43G>A:c.652+43G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50736420">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,59:107:99:1451,0,1466:127	0|0:113,0:113:99:0,340,4145:127	1|0:43,25:68:99:602,0,1341:127
10	50740876	.	G	C	32429.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=492;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3)|Cockayne_syndrome|_type_B|_133540_(3)|_Cerebrooculofacioskeletal_syndrome_1|_214150_(3)|_De_Sanctis-Cacchione_syndrome|_278800_(3)|_{Macular_degeneration|_age-related|_susceptibility_to_5}|_613761_(3)|_UV-sensitive_syndrome_1|_600630_(3)|_{Lung_cancer|_susceptibility_to}|_211980_(3);dbSNP139.ID=rs2228524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2228524" target="_blank">rs2228524</a>;ExAC.Info.AC=88027;ExAC.Info.AN=126702;ExAC.Info.AF=0.695;ExAC.Info.AC_Het=24945;ExAC.Info.AC_Hom=31529;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctG;snpeff.Amino_Acid_Change=p.Leu45Leu/c.135C>G;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=ERCC6-PGBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6-PGBD3" target="_blank">ERCC6-PGBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000515869;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctG;snpeff.Amino_Acid_Change=p.Leu45Leu/c.135C>G;snpeff.Amino_Acid_length=1061;snpeff.Gene_Name=PGBD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6-PGBD3" target="_blank">ERCC6-PGBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000603152;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctG;snpeff.Amino_Acid_Change=p.Leu45Leu/c.135C>G;snpeff.Amino_Acid_length=1493;snpeff.Gene_Name=ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6-PGBD3" target="_blank">ERCC6-PGBD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355832;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000515869:ENST00000355832;SAVANT_GENE=RP11-123B3.6:ERCC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-123B36:ERCC6" target="_blank">RP11-123B36:ERCC6</a>;SAVANT_INFO=-/24.3kb/6/3.4kb:-/83.7kb/21/8.0kb;SAVANT_LOC=Ex2:Ex2;SAVANT_HGVS=c.135C>G_p.=:c.135C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-123B36:ERCC6+c.135C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50740876">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,184:184:99:6780,553,0:127	1|0:100,75:175:99:2289,0,3266:127	1|1:0,133:133:99:5079,400,0:127
10	50818762	.	C	T	10190.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3);dbSNP139.ID=rs1880675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1880675" target="_blank">rs1880675</a>;ExAC.Info.AC=76236;ExAC.Info.AN=84530;ExAC.Info.AF=0.902;ExAC.Info.AC_Het=601;ExAC.Info.AC_Hom=4632;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=25;snpeff.Amino_Acid_Change=c.-25C>T;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=SLC18A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374115;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374115;SAVANT_GENE=SLC18A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A3" target="_blank">SLC18A3</a>;SAVANT_INFO=+/2.4kb/1/2.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-25C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC18A3+c.-25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50818762">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1221,102,0:101	1|1:0,52:52:99:1879,156,0:101	1|1:0,34:34:99:1322,102,0:101
10	50820345	.	C	A	28607.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs8187730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8187730" target="_blank">rs8187730</a>;ExAC.Info.AC=126496;ExAC.Info.AN=126634;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=131;ExAC.Info.AC_Hom=62354;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1559C>A;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=SLC18A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374115;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gAg;snpeff.Amino_Acid_Change=p.Ala520Glu/c.1559C>A;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=SLC18A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374115;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374115;SAVANT_GENE=SLC18A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A3" target="_blank">SLC18A3</a>;SAVANT_INFO=+/2.4kb/1/2.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1559C>A_p.Ala520Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC18A3+c.1559C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50820345">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:3047,267,0:127	1|1:0,114:114:99:3965,342,0:127	1|1:0,105:105:99:3552,315,0:127
10	50822192	.	G	C	7395.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3);dbSNP139.ID=rs7903315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7903315" target="_blank">rs7903315</a>;ExAC.Info.AC=12708;ExAC.Info.AN=25142;ExAC.Info.AF=0.505;ExAC.Info.AC_Het=2253;ExAC.Info.AC_Hom=3684;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=44;snpeff.Amino_Acid_Change=c.-44G>C;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337653;SAVANT_GENE=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;SAVANT_INFO=+/51.1kb/15/2.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHAT+c.-44G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50822192">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1084,99,0:92	1|1:0,33:33:99:1145,99,0:92	1|1:0,31:31:93:1044,93,0:92
10	50822226	.	T	G	5734.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3);dbSNP139.ID=rs7923716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7923716" target="_blank">rs7923716</a>;ExAC.Info.AC=22100;ExAC.Info.AN=22648;ExAC.Info.AF=0.976;ExAC.Info.AC_Het=100;ExAC.Info.AC_Hom=6561;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.-10T>G;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337653;SAVANT_GENE=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;SAVANT_INFO=+/51.1kb/15/2.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-10T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHAT+c.-10T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50822226">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:828,69,0:65	1|1:0,22:22:66:803,66,0:65	1|1:0,26:26:78:929,78,0:65
10	50824117	.	G	A	23354.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=908;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1880676;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1880676" target="_blank">rs1880676</a>;cosmic68.Histology_subtype=secretory;ExAC.Info.AC=26257;ExAC.Info.AN=125144;ExAC.Info.AF=0.210;ExAC.Info.AC_Het=19974;ExAC.Info.AC_Hom=3122;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.287-431G>A;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337653;SAVANT_GENE=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;SAVANT_INFO=+/51.1kb/15/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.287-431G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHAT+c.287-431G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50824117">View</a>	GT:AD:DP:GQ:PL:TP	0/1:166,132:298:99:3216,0,4483:127	0/1:201,177:378:99:4759,0,5287:127	0/1:121,111:232:99:2951,0,3535:127
10	50824619	.	G	A	15928.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3810950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3810950" target="_blank">rs3810950</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Alzheimer_disease|_association_with;hgmd_2014.2.OMIM_ID=118490;hgmd_2014.2.PubMed=12401548;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12401548" target="_blank">12401548</a>;ExAC.Info.AC=26214;ExAC.Info.AN=126674;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=19638;ExAC.Info.AC_Hom=2806;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000116697;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala120Thr/c.358G>A;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337653;SAVANT_GENE=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;SAVANT_INFO=+/51.1kb/15/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.358G>A_p.Ala120Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHAT+c.358G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50824619">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116697" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:89,73:162:99:1849,0,2545:127	0/1:127,94:221:99:2407,0,3801:127	0/1:90,80:170:99:2206,0,2521:127
10	50828506	.	G	A	37729.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=495;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3);dbSNP139.ID=rs1880677;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1880677" target="_blank">rs1880677</a>;ExAC.Info.AC=124974;ExAC.Info.AN=126704;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1641;ExAC.Info.AC_Hom=61645;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.580-35G>A;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337653;SAVANT_GENE=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;SAVANT_INFO=+/51.1kb/15/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.580-35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHAT+c.580-35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50828506">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:4946,471,0:127	1|1:2,179:181:99:6025,491,0:127	1|1:0,157:157:99:5374,471,0:127
10	50856652	.	G	A	23287.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4838544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4838544" target="_blank">rs4838544</a>;ExAC.Info.AC=125310;ExAC.Info.AN=126676;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1162;ExAC.Info.AC_Hom=60852;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1381G>A;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1381G>A;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1381G>A;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val461Met/c.1381G>A;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337653;SAVANT_GENE=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;SAVANT_INFO=+/51.1kb/15/2.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1381G>A_p.Val461Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHAT+c.1381G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50856652">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2704,243,0:127	1|1:0,103:103:99:3666,309,0:127	1|1:0,90:90:99:3090,270,0:127
10	50863083	.	A	C	11124.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3);dbSNP139.ID=rs12264845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12264845" target="_blank">rs12264845</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1635-58A>C;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635A>C;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635A>C;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337653;SAVANT_GENE=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;SAVANT_INFO=+/51.1kb/15/2.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1635-58A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHAT+c.1635-58A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50863083">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,37:95:99:1022,0,1606:127	0/1:59,69:128:99:2123,0,1729:127	0/1:55,54:109:99:1472,0,1591:127
10	50863147	.	T	C	25226.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=513;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3)|Myasthenic_syndrome|_congenital|_associated_with_episodic_apnea|_254210_(3);dbSNP139.ID=rs8178992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8178992" target="_blank">rs8178992</a>;ExAC.Info.AC=107713;ExAC.Info.AN=126702;ExAC.Info.AF=0.850;ExAC.Info.AC_Het=15123;ExAC.Info.AC_Hom=46255;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000116692;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1641T>C;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1641T>C;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His547His/c.1641T>C;snpeff.Amino_Acid_length=748;snpeff.Gene_Name=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337653;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337653;SAVANT_GENE=CHAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT" target="_blank">CHAT</a>;SAVANT_INFO=+/51.1kb/15/2.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1641T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHAT+c.1641T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50863147">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116692" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:91,81:172:99:2289,0,2539:127	1|1:1,210:211:99:7324,619,0:127	0|1:78,52:130:99:1528,0,2152:127
10	50901938	.	C	T	10572.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1133837;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1133837" target="_blank">rs1133837</a>;ExAC.Info.AC=53958;ExAC.Info.AN=126704;ExAC.Info.AF=0.426;ExAC.Info.AC_Het=29590;ExAC.Info.AC_Hom=12174;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe72Phe/c.216C>T;snpeff.Amino_Acid_length=157;snpeff.Gene_Name=C10orf53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf53" target="_blank">C10orf53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000535836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.216C>T;snpeff.Amino_Acid_length=157;snpeff.Gene_Name=C10orf53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf53" target="_blank">C10orf53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000535836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374112;SAVANT_GENE=C10orf53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf53" target="_blank">C10orf53</a>;SAVANT_INFO=+/30.6kb/3/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.216C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf53+c.216C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50901938">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,33:63:99:826,0,865:127	0|1:47,44:91:99:1370,0,1220:127	1|1:0,72:72:99:2326,216,0:127
10	50916484	.	A	G	9671.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1258236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1258236" target="_blank">rs1258236</a>;ExAC.Info.AC=113611;ExAC.Info.AN=126704;ExAC.Info.AF=0.897;ExAC.Info.AC_Het=10419;ExAC.Info.AC_Hom=51593;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg99Gly/c.295A>G;snpeff.Amino_Acid_length=157;snpeff.Gene_Name=C10orf53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf53" target="_blank">C10orf53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000535836;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374112;SAVANT_GENE=C10orf53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf53" target="_blank">C10orf53</a>;SAVANT_INFO=+/30.6kb/3/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.295A>G_p.Arg99Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf53+c.295A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50916484">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,27:47:99:829,0,544:127	1|1:0,62:62:99:2257,186,0:127	0|1:31,32:63:99:925,0,962:127
10	50916542	.	C	T	2566.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4838554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4838554" target="_blank">rs4838554</a>;ExAC.Info.AC=56744;ExAC.Info.AN=126704;ExAC.Info.AF=0.448;ExAC.Info.AC_Het=30200;ExAC.Info.AC_Hom=13271;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aTt;snpeff.Amino_Acid_Change=p.Thr118Ile/c.353C>T;snpeff.Amino_Acid_length=157;snpeff.Gene_Name=C10orf53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf53" target="_blank">C10orf53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000535836;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374112;SAVANT_GENE=C10orf53;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf53" target="_blank">C10orf53</a>;SAVANT_INFO=+/30.6kb/3/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.353C>T_p.Thr118Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf53+c.353C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50916542">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,3098:127	0|0:88,0:88:99:0,265,3200:127	0|1:52,47:99:99:1302,0,1597:127
10	50960209	.	G	A	10966.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1258184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1258184" target="_blank">rs1258184</a>;ExAC.Info.AC=61180;ExAC.Info.AN=126700;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=28852;ExAC.Info.AC_Hom=16039;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu188Leu/c.564C>T;snpeff.Amino_Acid_length=1010;snpeff.Gene_Name=OGDHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OGDHL" target="_blank">OGDHL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374103;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000374103;SAVANT_GENE=OGDHL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OGDHL" target="_blank">OGDHL</a>;SAVANT_INFO=-/27.7kb/23/3.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.564C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OGDHL+c.564C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:50960209">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,45:96:99:1197,0,1545:127	1|1:0,94:94:99:3358,283,0:127	0|0:75,0:75:99:0,226,2851:127
10	51374435	.	T	C	29.76	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=61;MQ=31.24;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs201973475;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201973475" target="_blank">rs201973475</a>;ExAC.Info.AC=15657;ExAC.Info.AN=90046;ExAC.Info.AF=0.174;ExAC.Info.AC_Het=6201;ExAC.Info.AC_Hom=335;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.165+7T>C;snpeff.Amino_Acid_length=170;snpeff.Gene_Name=TIMM23B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23B" target="_blank">TIMM23B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374098;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.166T>C;snpeff.Amino_Acid_length=170;snpeff.Gene_Name=TIMM23B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23B" target="_blank">TIMM23B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000374098;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000374098;SAVANT_GENE=TIMM23B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23B" target="_blank">TIMM23B</a>;SAVANT_INFO=+/16.3kb/6/0.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.165+7T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM23B+c.165+7T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51374435">View</a>	GT:AD:DP:GQ:PL:TP	0|0:13,1:14:7:0,7,415:4	0|0:44,2:46:75:0,75,1471:4	0|1:0,1:1:2:35,3,0:4
10	51549496	.	T	C	45510.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1438;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs10993994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10993994" target="_blank">rs10993994</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Prostate_cancer|_association_with;hgmd_2014.2.OMIM_ID=157145;hgmd_2014.2.PubMed=20333697;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20333697" target="_blank">20333697</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20333697" target="_blank">20333697</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51549496">View</a>	GT:AD:DP:GQ:PL:TP	0|1:248,254:502:99:6864,0,6462:127	1|1:0,460:460:99:16038,1385,0:127	0|0:476,0:476:99:0,1430,16231:127
10	51549545	.	G	T	89608.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4935176;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4935176" target="_blank">rs4935176</a>;ExAC.Info.AC=124844;ExAC.Info.AN=126698;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1577;ExAC.Info.AC_Hom=61614;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=40;snpeff.Amino_Acid_Change=c.-40G>T;snpeff.Amino_Acid_length=114;snpeff.Gene_Name=MSMB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSMB" target="_blank">MSMB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358559;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358559;SAVANT_GENE=MSMB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MSMB" target="_blank">MSMB</a>;SAVANT_INFO=+/13.0kb/4/0.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-40G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MSMB+c.-40G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51549545">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,447:447:99:14211,1346,0:127	1|1:0,464:464:99:15457,1394,0:127	1|1:0,448:448:99:14796,1345,0:127
10	51568378	.	T	G	12669.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Thyroid_carcinoma|_papillary|_188550_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10761581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10761581" target="_blank">rs10761581</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=11802;ExAC.Info.AN=24388;ExAC.Info.AF=0.484;ExAC.Info.AC_Het=5240;ExAC.Info.AC_Hom=3083;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttt/Gtt;snpeff.Amino_Acid_Change=p.Phe8Val/c.22T>G;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000452682;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000452682;SAVANT_GENE=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;SAVANT_INFO=+/25.6kb/12/3.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.22T>G_p.Phe8Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NCOA4+c.22T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51568378">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,52:117:99:1349,0,1799:127	1|1:0,114:114:99:4136,343,0:127	0|0:101,0:101:99:0,304,3601:127
10	51573474	.	G	A	2652.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Thyroid_carcinoma|_papillary|_188550_(3);dbSNP139.ID=rs72795888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72795888" target="_blank">rs72795888</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.34+5084G>A;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000452682;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000452682;SAVANT_GENE=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;SAVANT_INFO=+/25.6kb/12/3.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.34+5084G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NCOA4+c.34+5084G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51573474">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,26:50:99:640,0,710:127	0|0:84,0:84:99:0,252,2857:127	1|0:29,23:52:99:645,0,790:127
10	51580469	.	A	C	4525.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Thyroid_carcinoma|_papillary|_188550_(3);dbSNP139.ID=rs117273914;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=117273914" target="_blank">rs117273914</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190-87A>C;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000452682;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000452682;SAVANT_GENE=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;SAVANT_INFO=+/25.6kb/12/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.190-87A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NCOA4+c.190-87A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51580469">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,50:89:99:1374,0,817:127	0|0:115,6:121:99:0,263,3276:127	1|0:32,40:72:99:1022,0,712:127
10	51582894	.	C	T	10956.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=626;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Thyroid_carcinoma|_papillary|_188550_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41306524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41306524" target="_blank">rs41306524</a>;ExAC.Info.AC=11703;ExAC.Info.AN=126704;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=10443;ExAC.Info.AC_Hom=625;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp239Asp/c.717C>T;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000452682;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000452682;SAVANT_GENE=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;SAVANT_INFO=+/25.6kb/12/3.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.717C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NCOA4+c.717C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51582894">View</a>	GT:AD:DP:GQ:PL:TP	1|0:93,81:174:99:2008,0,2551:127	0|0:247,0:247:99:0,742,8693:127	1|0:110,95:205:99:2660,0,3415:127
10	51583018	.	CATT	C	22614.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=497;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Thyroid_carcinoma|_papillary|_188550_(3);dbSNP139.ID=rs34542065;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34542065" target="_blank">rs34542065</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.762+80_762+82delATT;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000452682;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Breakpoint_for_rearrangement_to_form_RET/PTC3_oncogene];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.763_765delATT;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000452682;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Breakpoint_for_rearrangement_to_form_RET/PTC3_oncogene];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.763_765delATT;snpeff.Amino_Acid_length=650;snpeff.Gene_Name=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000452682;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000452682;SAVANT_GENE=NCOA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCOA4" target="_blank">NCOA4</a>;SAVANT_INFO=+/25.6kb/12/3.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.762+80_762+82delATT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NCOA4+c.762+80_762+82delATT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51583018">View</a>	GT:AD:DP:GQ:PL:TP	0|1:80,54:134:99:2009,0,3746:127	1|1:0,183:183:99:8123,552,0:127	0|0:180,0:180:99:0,541,9330:127
10	51603257	.	TA	T	263.04	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=31;MQ=40.65;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.514+3730delT;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260867;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000260867;SAVANT_GENE=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;SAVANT_INFO=-/31.3kb/7/1.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.514+3730delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM23+c.514+3730delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51603257">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,1:12:25:0,25,216:4	0|0:1,0:1:3:0,3,21:4	0|1:12,6:18:99:102,0,218:4
10	51620317	.	A	G	7782.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=181;MQ=30.83;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs200147310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200147310" target="_blank">rs200147310</a>;ExAC.Info.AC=77451;ExAC.Info.AN=125412;ExAC.Info.AF=0.618;ExAC.Info.AC_Het=43335;ExAC.Info.AC_Hom=9935;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.165+7T>C;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.166T>C;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260867;SAVANT_GENE=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;SAVANT_INFO=-/31.3kb/7/1.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.165+7T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM23+c.165+7T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51620317">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,29:49:99:861,0,548:127	1|1:0,44:44:99:1513,132,0:127	0|1:46,42:88:99:1166,0,1349:127
10	51620361	.	G	C	422.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=248;MQ=30.97;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs148307270;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148307270" target="_blank">rs148307270</a>;cosmic68.Histology_subtype=cystic_tumour;ExAC.Info.AC=12955;ExAC.Info.AN=126470;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=11474;ExAC.Info.AC_Hom=176;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCt/tGt;snpeff.Amino_Acid_Change=p.Ser43Cys/c.128C>G;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260867;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260867;SAVANT_GENE=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;SAVANT_INFO=-/31.3kb/7/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.128C>G_p.Ser43Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM23+c.128C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51620361">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,238,2630:127	0|0:61,0:61:99:0,183,2032:127	0|1:92,16:108:99:230,0,2877:127
10	51623052	.	C	CT	14217.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=325;MQ=41.94;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs143647852;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=143647852" target="_blank">rs143647852</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.106+57_106+56insA;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000260867;SAVANT_GENE=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;SAVANT_INFO=-/31.3kb/7/1.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.106+56dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM23+c.106+56dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51623052">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,41:100:99:1543,0,2354:127	0/1:59,56:115:99:2227,0,2293:127	0/1:66,44:110:99:1774,0,2659:127
10	51623061	.	G	A	14995.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=356;MQ=42.29;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs115719811;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115719811" target="_blank">rs115719811</a>;ExAC.Info.AC=61476;ExAC.Info.AN=126548;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=58427;ExAC.Info.AC_Hom=375;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.106+48C>T;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260867;SAVANT_GENE=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;SAVANT_INFO=-/31.3kb/7/1.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.106+48C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM23+c.106+48C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51623061">View</a>	GT:AD:DP:GQ:PL:TP	0/1:64,46:110:99:1683,0,2491:127	0/1:63,63:126:99:2360,0,2394:127	0/1:69,51:120:99:1860,0,2693:127
10	51623147	.	C	T	7361.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=257;MQ=35.10;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs373071373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=373071373" target="_blank">rs373071373</a>;ExAC.Info.AC=37767;ExAC.Info.AN=118936;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=21305;ExAC.Info.AC_Hom=158;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gAa;snpeff.Amino_Acid_Change=p.Gly23Glu/c.68G>A;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260867;SAVANT_GENE=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;SAVANT_INFO=-/31.3kb/7/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.68G>A_p.Gly23Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM23+c.68G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51623147">View</a>	GT:AD:DP:GQ:PL:TP	0/1:45,38:83:99:941,0,1141:127	0/1:46,47:93:99:1228,0,1234:127	0/1:44,37:81:99:883,0,1119:127
10	51623174	.	C	A	5023.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=149;MQ=29.39;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs141118546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141118546" target="_blank">rs141118546</a>;ExAC.Info.AC=43348;ExAC.Info.AN=122494;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=27622;ExAC.Info.AC_Hom=127;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gTa;snpeff.Amino_Acid_Change=p.Gly14Val/c.41G>T;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260867;SAVANT_GENE=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;SAVANT_INFO=-/31.3kb/7/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.41G>T_p.Gly14Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM23+c.41G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51623174">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,22:52:99:734,0,1106:127	0/1:20,29:49:99:956,0,623:127	0/1:30,18:48:99:579,0,1120:127
10	51623190	.	T	C	3297.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=95;MQ=29.31;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs137912947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=137912947" target="_blank">rs137912947</a>;ExAC.Info.AC=40907;ExAC.Info.AN=119416;ExAC.Info.AF=0.343;ExAC.Info.AC_Het=22146;ExAC.Info.AC_Hom=115;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn9Asp/c.25A>G;snpeff.Amino_Acid_length=209;snpeff.Gene_Name=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260867;SAVANT_GENE=TIMM23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM23" target="_blank">TIMM23</a>;SAVANT_INFO=-/31.3kb/7/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.25A>G_p.Asn9Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TIMM23+c.25A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51623190">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,13:36:99:507,0,924:127	0/1:12,12:24:99:499,0,552:127	0/1:22,13:35:99:477,0,882:127
10	51623602	.	C	G	687.35	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=11;MQ=29.46;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.20C>G;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51623602">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:12:130,12,0:9	1|1:0,4:4:12:137,12,0:9	1|0:1,2:3:26:59,0,26:9
10	51623621	.	A	AG	1067.29	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=12;MQ=29.58;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.40_41insG;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51623621">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,3:3:9:107,9,0:8	1|1:0,5:5:15:178,15,0:8	1|0:1,3:4:24:95,0,24:8
10	51623629	.	GA	G	1263.04	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=17;MQ=29.66;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.48delA;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51623629">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:12:143,12,0:10	1|1:0,5:5:15:179,15,0:10	1|0:3,5:8:83:154,0,83:10
10	51623647	.	CG	C	1514.84	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=21;MQ=29.70;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs377343859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=377343859" target="_blank">rs377343859</a>;ExAC.Info.AC=7155;ExAC.Info.AN=30658;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=1227;ExAC.Info.AC_Hom=87;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.66delG;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51623647">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,6:6:18:207,18,0:15	1|1:0,6:6:18:204,18,0:15	1|0:3,6:9:74:180,0,74:15
10	51623866	.	A	G	4589.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=65;MQ=32.72;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs374725846;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374725846" target="_blank">rs374725846</a>;ExAC.Info.AC=17809;ExAC.Info.AN=37444;ExAC.Info.AF=0.476;ExAC.Info.AC_Het=5130;ExAC.Info.AC_Hom=2972;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.284A>G;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51623866">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:635,60,0:59	1|1:0,26:26:78:801,78,0:59	1|0:8,11:19:99:314,0,214:59
10	51631409	.	C	G	153.07	PASS	InheritancePattern=unknown;AC=2;AF=0.500;AN=4;DP=6;MQ=30.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./.;dbSNP139.ID=rs200187671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200187671" target="_blank">rs200187671</a>;ExAC.Info.AC=2105;ExAC.Info.AN=7818;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=334;ExAC.Info.AC_Hom=10;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.826C>G;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51631409">View</a>	GT:AD:DP:GQ:PL:TP	0/1:1,3:4:23:92,0,23:23	./.	0/1:1,1:2:29:29,0,29:23
10	51631453	.	C	T	817.76	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=11;MQ=29.40;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs201266174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201266174" target="_blank">rs201266174</a>;ExAC.Info.AC=5668;ExAC.Info.AN=15072;ExAC.Info.AF=0.376;ExAC.Info.AC_Het=945;ExAC.Info.AC_Hom=49;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.870C>T;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51631453">View</a>	GT:AD:DP:GQ:PL:TP	1|0:1,4:5:30:165,0,30:4	0|1:0,2:2:1:124,9,0:4	1|1:0,4:4:12:180,12,0:4
10	51631463	.	A	G	883.59	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=13;MQ=29.50;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs201706652;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201706652" target="_blank">rs201706652</a>;ExAC.Info.AC=5660;ExAC.Info.AN=13948;ExAC.Info.AF=0.406;ExAC.Info.AC_Het=1152;ExAC.Info.AC_Hom=75;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.880A>G;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51631463">View</a>	GT:AD:DP:GQ:PL:TP	1|0:1,4:5:30:165,0,30:6	0|1:0,3:3:1:124,9,0:6	1|1:0,5:5:15:213,15,0:6
10	51631508	.	T	C	908.41	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=24;MQ=29.42;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs199861878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199861878" target="_blank">rs199861878</a>;ExAC.Info.AC=14087;ExAC.Info.AN=28684;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=3109;ExAC.Info.AC_Hom=272;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.925T>C;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51631508">View</a>	GT:AD:DP:GQ:PL:TP	0|1:1,5:6:17:152,0,17:8	1|1:0,3:3:9:97,9,0:8	0|1:7,8:15:99:227,0,198:8
10	51631530	.	T	C	1996.11	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=58;MQ=29.86;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs201143124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201143124" target="_blank">rs201143124</a>;ExAC.Info.AC=17215;ExAC.Info.AN=37554;ExAC.Info.AF=0.458;ExAC.Info.AC_Het=5285;ExAC.Info.AC_Hom=550;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.947T>C;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51631530">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,9:14:99:270,0,132:21	1|1:0,7:7:21:235,21,0:21	0|1:20,17:37:99:474,0,583:21
10	51631588	.	A	G	7231.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=183;MQ=29.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs151316128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=151316128" target="_blank">rs151316128</a>;ExAC.Info.AC=43009;ExAC.Info.AN=83462;ExAC.Info.AF=0.515;ExAC.Info.AC_Het=9949;ExAC.Info.AC_Hom=2179;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1005A>G;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51631588">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,34:52:99:1025,0,469:110	1|1:0,37:37:99:1280,111,0:110	0|1:56,38:94:99:1014,0,1638:110
10	51631812	.	A	G	33282.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=788;MQ=37.06;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs200391397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200391397" target="_blank">rs200391397</a>;ExAC.Info.AC=65447;ExAC.Info.AN=118272;ExAC.Info.AF=0.553;ExAC.Info.AC_Het=32730;ExAC.Info.AC_Hom=3578;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1229A>G;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51631812">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,166:237:99:4688,0,1444:127	1|1:2,203:205:99:6397,566,0:127	0|1:162,184:346:99:4917,0,4245:127
10	51631967	.	G	C	1833.05	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=42;MQ=29.85;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs201033118;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201033118" target="_blank">rs201033118</a>;ExAC.Info.AC=12769;ExAC.Info.AN=27112;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=3634;ExAC.Info.AC_Hom=289;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1373+11G>C;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51631967">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,5:10:99:195,0,318:27	1|1:0,9:9:27:395,27,0:27	0|1:13,10:23:99:359,0,800:27
10	51631972	.	G	C	1647.05	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=38;MQ=29.83;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs202151087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202151087" target="_blank">rs202151087</a>;ExAC.Info.AC=12720;ExAC.Info.AN=26804;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=3143;ExAC.Info.AC_Hom=253;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1373+16G>C;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51631972">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,5:10:99:195,0,318:27	1|1:0,8:8:27:395,27,0:27	0|1:12,8:20:99:297,0,806:27
10	51632855	.	A	G	3562.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=119;MQ=30.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs201235999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201235999" target="_blank">rs201235999</a>;ExAC.Info.AC=55002;ExAC.Info.AN=117456;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=32440;ExAC.Info.AC_Hom=520;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1383A>G;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51632855">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,15:31:99:427,0,463:127	0/1:29,19:48:99:515,0,863:127	0/1:20,20:40:99:574,0,550:127
10	51632906	.	G	A	7826.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=256;MQ=30.03;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs146420399;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146420399" target="_blank">rs146420399</a>;ExAC.Info.AC=55296;ExAC.Info.AN=120570;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=34733;ExAC.Info.AC_Hom=449;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1434G>A;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51632906">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,39:81:99:1112,0,1200:127	0/1:59,42:101:99:1155,0,1730:127	0/1:32,42:74:99:1236,0,881:127
10	51632971	.	A	G	13847.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=535;MQ=37.33;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs200644678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200644678" target="_blank">rs200644678</a>;ExAC.Info.AC=62134;ExAC.Info.AN=123850;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=57241;ExAC.Info.AC_Hom=732;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1499A>G;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51632971">View</a>	GT:AD:DP:GQ:PL:TP	0/1:101,79:180:99:1869,0,2377:127	0/1:114,83:197:99:1907,0,2934:127	0/1:82,76:158:99:1906,0,2035:127
10	51633027	.	T	C	17140.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=602;MQ=41.68;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs115081809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115081809" target="_blank">rs115081809</a>;ExAC.Info.AC=63440;ExAC.Info.AN=125018;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=61269;ExAC.Info.AC_Hom=1000;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1555T>C;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.1555T>C;snpeff.Gene_Name=PARGP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456092;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARGP1" target="_blank">PARGP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARGP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51633027">View</a>	GT:AD:DP:GQ:PL:TP	0/1:101,89:190:99:2279,0,2617:127	0/1:127,97:224:99:2482,0,3528:127	0/1:88,100:188:99:2557,0,2201:127
10	51827934	.	G	A	2079.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=47;MQ=67.23;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55875820;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55875820" target="_blank">rs55875820</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=48878;ExAC.Info.AN=121382;ExAC.Info.AF=0.403;ExAC.Info.AC_Het=20410;ExAC.Info.AC_Hom=9651;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val25Met/c.73G>A;snpeff.Amino_Acid_length=1341;snpeff.Gene_Name=FAM21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21A" target="_blank">FAM21A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000282633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000282633;SAVANT_GENE=FAM21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21A" target="_blank">FAM21A</a>;SAVANT_INFO=+/65.2kb/31/4.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.73G>A_p.Val25Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM21A+c.73G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51827934">View</a>	GT:AD:DP:GQ:PL:TP	0/1:4,12:16:99:312,0,112:111	0/1:6,11:17:99:311,0,184:111	0/1:6,8:14:99:238,0,175:111
10	51859715	.	C	CA	362.54	PASS	InheritancePattern=unknown;AC=1;AF=0.500;AN=2;DP=7;MQ=29.37;MQ0=0;culprit=MQRankSum;NA12878i_GT=./.;NA12892_GT=0/1;NA12891_GT=./.;ExAC.Info.AC=275;ExAC.Info.AN=65810;ExAC.Info.AF=4.179e-03;ExAC.Info.AC_Het=200;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1549-22_1549-21insA;snpeff.Amino_Acid_length=1341;snpeff.Gene_Name=FAM21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21A" target="_blank">FAM21A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000282633;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000282633;SAVANT_GENE=FAM21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21A" target="_blank">FAM21A</a>;SAVANT_INFO=+/65.2kb/31/4.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1549-23_1549-22insA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM21A+c.1549-23_1549-22insA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51859715">View</a>	GT:AD:DP:GQ:PL	./.	./.	0/1:3,4:7:45:127,0,45
10	51859758	.	A	G	600.75	PASS	InheritancePattern=unknown;AC=3;AF=0.750;AN=4;DP=15;MQ=28.90;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=./.;dbSNP139.ID=rs200416566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200416566" target="_blank">rs200416566</a>;ExAC.Info.AC=6955;ExAC.Info.AN=76718;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=2604;ExAC.Info.AC_Hom=336;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys523Lys/c.1569A>G;snpeff.Amino_Acid_length=1341;snpeff.Gene_Name=FAM21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21A" target="_blank">FAM21A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000282633;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000282633;SAVANT_GENE=FAM21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM21A" target="_blank">FAM21A</a>;SAVANT_INFO=+/65.2kb/31/4.3kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1569A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM21A+c.1569A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:51859758">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,4:4:12:111,12,0:10	./.	1|0:7,4:11:97:97,0,177:10
10	52086939	.	C	G	19112.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2246994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2246994" target="_blank">rs2246994</a>;ExAC.Info.AC=75760;ExAC.Info.AN=126690;ExAC.Info.AF=0.598;ExAC.Info.AC_Het=28891;ExAC.Info.AC_Hom=23269;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.741+26G>C;snpeff.Amino_Acid_length=413;snpeff.Gene_Name=SGMS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGMS1" target="_blank">SGMS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361781;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361781;SAVANT_GENE=SGMS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGMS1" target="_blank">SGMS1</a>;SAVANT_INFO=-/318.4kb/11/3.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.741+26G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGMS1+c.741+26G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:52086939">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,67:139:99:1793,0,2141:127	1|1:1,157:158:99:5598,433,0:127	0|1:71,51:122:99:1418,0,2161:127
10	52103707	.	A	G	11026.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10763354;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10763354" target="_blank">rs10763354</a>;ExAC.Info.AC=65791;ExAC.Info.AN=126702;ExAC.Info.AF=0.519;ExAC.Info.AC_Het=30635;ExAC.Info.AC_Hom=17569;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn56Asn/c.168T>C;snpeff.Amino_Acid_length=413;snpeff.Gene_Name=SGMS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGMS1" target="_blank">SGMS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361781;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361781;SAVANT_GENE=SGMS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGMS1" target="_blank">SGMS1</a>;SAVANT_INFO=-/318.4kb/11/3.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.168T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGMS1+c.168T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:52103707">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1381,117,0:127	1|1:0,43:43:99:1595,129,0:127	1|1:0,49:49:99:1865,147,0:127
10	53059406	.	T	C	3366.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3);dbSNP139.ID=rs2043556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2043556" target="_blank">rs2043556</a>;ExAC.Info.AC=10239;ExAC.Info.AN=70804;ExAC.Info.AF=0.145;ExAC.Info.AC_Het=4735;ExAC.Info.AC_Hom=743;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.74T>C;snpeff.Gene_Name=MIR605;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR605" target="_blank">MIR605</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000385078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.478+146316T>C;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR605" target="_blank">MIR605</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.479T>C;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR605" target="_blank">MIR605</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.479T>C;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR605" target="_blank">MIR605</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.479T>C;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR605" target="_blank">MIR605</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.479T>C;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR605" target="_blank">MIR605</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.479T>C;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR605" target="_blank">MIR605</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.479T>C;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR605" target="_blank">MIR605</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373980;SAVANT_GENE=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;SAVANT_INFO=+/1224.2kb/18/6.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.478+146316T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKG1+c.478+146316T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:53059406">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2574:127	0|1:44,34:78:99:946,0,1233:127	0|1:41,26:67:99:757,0,1179:127
10	53458047	.	A	G	3084.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3);dbSNP139.ID=rs3740228;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740228" target="_blank">rs3740228</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=22190;ExAC.Info.AN=126700;ExAC.Info.AF=0.175;ExAC.Info.AC_Het=17593;ExAC.Info.AC_Hom=2296;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.593-106298A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1263A>G;snpeff.Amino_Acid_length=616;snpeff.Gene_Name=CSTF2T;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331173;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:9_X_5_AA_tandem_repeats_of_M-E-T-R-_AG_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1263A>G;snpeff.Amino_Acid_length=616;snpeff.Gene_Name=CSTF2T;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331173;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1263A>G;snpeff.Amino_Acid_length=616;snpeff.Gene_Name=CSTF2T;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331173;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg421Arg/c.1263T>C;snpeff.Amino_Acid_length=616;snpeff.Gene_Name=CSTF2T;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331173;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373980:ENST00000331173;SAVANT_GENE=PRKG1:CSTF2T;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1:CSTF2T" target="_blank">PRKG1:CSTF2T</a>;SAVANT_INFO=+/1224.2kb/18/6.9kb:-/4.1kb/1/4.1kb;SAVANT_LOC=In3/4:Ex1;SAVANT_HGVS=c.593-106298A>G:c.1263T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKG1:CSTF2T+c.593-106298A>G:c.1263T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:53458047">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,3772:127	0|0:148,0:148:99:0,445,5006:127	0|1:49,51:100:99:1561,0,1442:127
10	53458167	.	C	T	2746.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3);dbSNP139.ID=rs3824686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824686" target="_blank">rs3824686</a>;ExAC.Info.AC=9469;ExAC.Info.AN=126698;ExAC.Info.AF=0.075;ExAC.Info.AC_Het=8689;ExAC.Info.AC_Hom=385;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.593-106178C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1143C>T;snpeff.Amino_Acid_length=616;snpeff.Gene_Name=CSTF2T;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331173;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg381Arg/c.1143G>A;snpeff.Amino_Acid_length=616;snpeff.Gene_Name=CSTF2T;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331173;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373980:ENST00000331173;SAVANT_GENE=PRKG1:CSTF2T;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1:CSTF2T" target="_blank">PRKG1:CSTF2T</a>;SAVANT_INFO=+/1224.2kb/18/6.9kb:-/4.1kb/1/4.1kb;SAVANT_LOC=In3/4:Ex1;SAVANT_HGVS=c.593-106178C>T:c.1143G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKG1:CSTF2T+c.593-106178C>T:c.1143G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:53458167">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,241,3040:127	0|0:103,0:103:99:0,310,3890:127	0|1:35,43:78:99:1392,0,1105:127
10	53458998	.	A	G	4550.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=544;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3);dbSNP139.ID=rs2292828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292828" target="_blank">rs2292828</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=24509;ExAC.Info.AN=126704;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=17886;ExAC.Info.AC_Hom=3310;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.593-105347A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu104Leu/c.312T>C;snpeff.Amino_Acid_length=616;snpeff.Gene_Name=CSTF2T;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331173;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373980:ENST00000331173;SAVANT_GENE=PRKG1:CSTF2T;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1:CSTF2T" target="_blank">PRKG1:CSTF2T</a>;SAVANT_INFO=+/1224.2kb/18/6.9kb:-/4.1kb/1/4.1kb;SAVANT_LOC=In3/4:Ex1;SAVANT_HGVS=c.593-105347A>G:c.312T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKG1:CSTF2T+c.593-105347A>G:c.312T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:53458998">View</a>	GT:AD:DP:GQ:PL:TP	0|0:171,0:171:99:0,514,5892:127	0|0:222,0:222:99:0,667,7849:127	0|1:72,79:151:99:2294,0,2203:127
10	53459459	.	C	T	5184.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=745;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3);dbSNP139.ID=rs3812670;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3812670" target="_blank">rs3812670</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.593-104886C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_high_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373980;SAVANT_GENE=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;SAVANT_INFO=+/1224.2kb/18/6.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.593-104886C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKG1+c.593-104886C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:53459459">View</a>	GT:AD:DP:GQ:PL:TP	0|0:234,0:234:99:0,703,7974:127	0|0:295,0:295:99:0,888,10070:127	0|1:117,99:216:99:2611,0,3391:127
10	53841337	.	A	G	14143.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3);dbSNP139.ID=rs1904024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1904024" target="_blank">rs1904024</a>;ExAC.Info.AC=12709;ExAC.Info.AN=16044;ExAC.Info.AF=0.792;ExAC.Info.AC_Het=1790;ExAC.Info.AC_Hom=4750;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.935+18946A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_low_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.936A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_low_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.936A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_low_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.936A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_low_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.936A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:cGMP-binding_low_affinity];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.936A>G;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373980;SAVANT_GENE=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;SAVANT_INFO=+/1224.2kb/18/6.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.935+18946A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKG1+c.935+18946A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:53841337">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1560,132,0:127	1|1:0,66:66:99:2304,198,0:127	1|1:0,58:58:99:1989,174,0:127
10	54050079	.	G	A	6338.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3)|Aortic_aneurysm|_familial_thoracic_8|_615436_(3);dbSNP139.ID=rs10762675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10762675" target="_blank">rs10762675</a>;ExAC.Info.AC=65650;ExAC.Info.AN=126656;ExAC.Info.AF=0.518;ExAC.Info.AC_Het=29628;ExAC.Info.AC_Hom=17923;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1962+29G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.169+3596C>T;snpeff.Gene_Name=PRKG1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000426785;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1963G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:AGC-kinase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1963G>A;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373980;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373980;SAVANT_GENE=PRKG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKG1" target="_blank">PRKG1</a>;SAVANT_INFO=+/1224.2kb/18/6.9kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1962+29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKG1+c.1962+29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:54050079">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,14:27:99:405,0,437:127	1|1:0,58:58:99:2055,174,0:127	0|1:20,20:40:99:572,0,589:127
10	54074757	.	A	G	1442.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2241529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2241529" target="_blank">rs2241529</a>;ExAC.Info.AC=65725;ExAC.Info.AN=126552;ExAC.Info.AF=0.519;ExAC.Info.AC_Het=29325;ExAC.Info.AC_Hom=17468;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.318A>G;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=DKK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DKK1" target="_blank">DKK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373970;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:DKK-type_Cys-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.318A>G;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=DKK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DKK1" target="_blank">DKK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373970;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:DKK-type_Cys-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.318A>G;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=DKK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DKK1" target="_blank">DKK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373970;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala106Ala/c.318A>G;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=DKK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DKK1" target="_blank">DKK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373970;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373970;SAVANT_GENE=DKK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DKK1" target="_blank">DKK1</a>;SAVANT_INFO=+/3.4kb/4/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.318A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DKK1+c.318A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:54074757">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1624:127	0|0:69,0:69:99:0,207,2303:127	0|1:28,28:56:99:740,0,786:127
10	54076271	.	A	G	4914.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=556;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1569198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1569198" target="_blank">rs1569198</a>;ExAC.Info.AC=52264;ExAC.Info.AN=126676;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=28806;ExAC.Info.AC_Hom=11689;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.548-43A>G;snpeff.Amino_Acid_length=266;snpeff.Gene_Name=DKK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DKK1" target="_blank">DKK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373970;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373970;SAVANT_GENE=DKK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DKK1" target="_blank">DKK1</a>;SAVANT_INFO=+/3.4kb/4/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.548-43A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DKK1+c.548-43A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:54076271">View</a>	GT:AD:DP:GQ:PL:TP	0|0:181,0:181:99:0,544,6149:127	0|0:212,0:212:99:0,637,7356:127	0|1:83,80:163:99:2476,0,2437:127
10	54301740	.	A	G	31959.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1040;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7085224;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7085224" target="_blank">rs7085224</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7085224" target="_blank">rs7085224</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:54301740">View</a>	GT:AD:DP:GQ:PL:TP	1|0:165,121:286:99:3386,0,4593:127	0|0:437,0:437:99:0,1312,14473:127	1|1:0,317:317:99:10974,952,0:127
10	54303449	.	G	T	5232.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=792;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10762771;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10762771" target="_blank">rs10762771</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10762771" target="_blank">rs10762771</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:54303449">View</a>	GT:AD:DP:GQ:PL:TP	0|0:255,0:255:99:0,765,8306:127	0|0:289,1:290:99:0,833,9892:127	0|1:142,105:247:99:2635,0,3891:127
10	54528266	.	G	C	9383.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs930507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=930507" target="_blank">rs930507</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Increased_serum_MBL_level;hgmd_2014.2.OMIM_ID=154545;hgmd_2014.2.PubMed=16750996;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16750996" target="_blank">16750996</a>;ExAC.Info.AC=100229;ExAC.Info.AN=125678;ExAC.Info.AF=0.798;ExAC.Info.AC_Het=18089;ExAC.Info.AC_Hom=37895;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378G>C;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378G>C;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctG;snpeff.Amino_Acid_Change=p.Leu126Leu/c.378C>G;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373968;SAVANT_GENE=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;SAVANT_INFO=-/6.3kb/4/3.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.378C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MBL2+c.378C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:54528266">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,49:97:99:1479,0,1277:127	0/1:66,61:127:99:1684,0,1863:127	0/1:53,31:84:99:902,0,1675:127
10	54528298	.	G	C	7896.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs930508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=930508" target="_blank">rs930508</a>;ExAC.Info.AC=96818;ExAC.Info.AN=122704;ExAC.Info.AF=0.789;ExAC.Info.AC_Het=17977;ExAC.Info.AC_Hom=36315;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.374-28C>G;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374G>C;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374G>C;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373968;SAVANT_GENE=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;SAVANT_INFO=-/6.3kb/4/3.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.374-28C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MBL2+c.374-28C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:54528298">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,29:70:99:856,0,1146:127	0/1:51,52:103:99:1627,0,1490:127	0/1:48,26:74:99:826,0,1476:127
10	54531235	.	C	T	6677.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=575;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1800450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800450" target="_blank">rs1800450</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Mannose-binding_protein_deficiency|_association;hgmd_2014.2.OMIM_ID=154545;hgmd_2014.2.PubMed=1675710;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=1675710" target="_blank">1675710</a>;ExAC.Info.AC=17560;ExAC.Info.AN=126704;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=14838;ExAC.Info.AC_Hom=1354;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.161C>T;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373968;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.161C>T;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373968;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gAc;snpeff.Amino_Acid_Change=p.Gly54Asp/c.161G>A;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373968;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373968;SAVANT_GENE=MBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL2" target="_blank">MBL2</a>;SAVANT_INFO=-/6.3kb/4/3.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.161G>A_p.Gly54Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MBL2+c.161G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:54531235">View</a>	GT:AD:DP:GQ:PL:TP	0|0:174,0:174:99:0,523,6222:127	0|1:127,117:244:99:3356,0,3933:127	0|0:156,1:157:99:0,436,5631:127
10	55566406	.	T	G	7782.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=946;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17704703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17704703" target="_blank">rs17704703</a>;ExAC.Info.AC=26522;ExAC.Info.AN=124524;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=19608;ExAC.Info.AC_Hom=3449;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55566406">View</a>	GT:AD:DP:GQ:PL:TP	0|0:301,0:301:99:0,904,10238:127	0|0:357,0:357:99:0,1072,11958:127	0|1:143,145:288:99:3910,0,3938:127
10	55568972	.	T	G	5869.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11003863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11003863" target="_blank">rs11003863</a>;ExAC.Info.AC=30783;ExAC.Info.AN=124484;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=19949;ExAC.Info.AC_Hom=5397;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000037010;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55568972">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000037010" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:32,29:61:99:915,0,925:127	1|0:38,44:82:99:1396,0,1124:127	0|0:68,1:69:99:0,171,2402:127
10	55582905	.	G	T	9171.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=498;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10825114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10825114" target="_blank">rs10825114</a>;ExAC.Info.AC=21615;ExAC.Info.AN=126698;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=13154;ExAC.Info.AC_Hom=4221;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039741;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccA;snpeff.Amino_Acid_Change=p.Pro1529Pro/c.4587C>A;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.4587C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.4587C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55582905">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039741" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:65,67:132:99:1911,0,1976:127	1|0:106,89:195:99:2295,0,3219:127	0|0:171,0:171:99:0,514,6128:127
10	55590942	.	TAGAC	T	23252.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=587;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs66893390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66893390" target="_blank">rs66893390</a>;ExAC.Info.AC=53081;ExAC.Info.AN=126620;ExAC.Info.AF=0.419;ExAC.Info.AC_Het=30057;ExAC.Info.AC_Hom=10834;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4202+129_4202+132delGTCT;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.4202+129_4202+132delGTCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.4202+129_4202+132delGTCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55590942">View</a>	GT:AD:DP:GQ:PL:TP	0/1:95,78:173:99:3041,0,3744:127	0/1:129,105:234:99:4088,0,5313:127	0/1:105,75:180:99:2981,0,4289:127
10	55590950	.	C	T	23839.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=622;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs77597438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77597438" target="_blank">rs77597438</a>;ExAC.Info.AC=53081;ExAC.Info.AN=126638;ExAC.Info.AF=0.419;ExAC.Info.AC_Het=30096;ExAC.Info.AC_Hom=10830;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4202+125G>A;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.4202+125G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.4202+125G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55590950">View</a>	GT:AD:DP:GQ:PL:TP	0/1:96,84:180:99:3174,0,3737:127	0/1:138,109:247:99:4076,0,5441:127	0/1:110,85:195:99:3155,0,4315:127
10	55591313	.	G	A	16712.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=588;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs7089209;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7089209" target="_blank">rs7089209</a>;ExAC.Info.AC=54152;ExAC.Info.AN=126620;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=28912;ExAC.Info.AC_Hom=11841;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039735;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3984-20C>T;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.3984-20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.3984-20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55591313">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039735" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:96,90:186:99:2431,0,2905:127	0/1:108,123:231:99:3458,0,3082:127	0/1:85,86:171:99:2442,0,2680:127
10	55626367	.	A	G	37904.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=830;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10825135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10825135" target="_blank">rs10825135</a>;ExAC.Info.AC=44971;ExAC.Info.AN=126450;ExAC.Info.AF=0.356;ExAC.Info.AC_Het=26446;ExAC.Info.AC_Hom=8827;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3717+35T>C;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3717+35T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.3717+35T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55626367">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,245:246:99:8597,729,0:127	1|0:174,167:341:99:5023,0,4942:127	1|0:134,109:243:99:3264,0,3898:127
10	55663198	.	A	C	11265.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10740559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740559" target="_blank">rs10740559</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3374-68T>G;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3374-68T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.3374-68T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55663198">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:2444,166,0:127	1|0:46,37:83:99:1415,0,2854:127	1|0:25,29:54:99:1173,0,1608:127
10	55779915	.	G	A	47045.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=802;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs3812658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3812658" target="_blank">rs3812658</a>;ExAC.Info.AC=80445;ExAC.Info.AN=126638;ExAC.Info.AF=0.635;ExAC.Info.AC_Het=25802;ExAC.Info.AC_Hom=26917;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2751+37C>T;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2751+37C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.2751+37C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55779915">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,246:247:99:8375,705,0:127	1|0:132,142:274:99:4166,0,3852:127	1|1:0,281:281:99:9745,844,0:127
10	55826470	.	A	G	5740.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=576;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs3812657;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3812657" target="_blank">rs3812657</a>;ExAC.Info.AC=25617;ExAC.Info.AN=126648;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=19499;ExAC.Info.AC_Hom=2828;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2220+47T>C;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2220+47T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.2220+47T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55826470">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,0:149:99:0,448,5696:127	0|0:230,0:230:99:0,691,8560:127	0|1:96,101:197:99:2889,0,2975:127
10	55892600	.	TAC	T	7025.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1917+33_1917+34delGT;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1917+33_1917+34delGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.1917+33_1917+34delGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55892600">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,50:92:99:1399,0,1182:127	0|0:101,1:102:99:0,271,3510:127	1|0:38,52:90:99:1534,0,1058:127
10	55892642	.	T	C	11533.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|P|D|P|P|D|P|D|P|P|D|P|D|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61731389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61731389" target="_blank">rs61731389</a>;ExAC.Info.AC=3532;ExAC.Info.AN=126680;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=3337;ExAC.Info.AC_Hom=69;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127325|RCV000039707;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn637Ser/c.1910A>G;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1910A>G_p.Asn637Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.1910A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55892642">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127325%20OR%20RCV000039707" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:77,75:152:99:1942,0,2032:127	0|0:180,0:180:99:0,540,6056:127	1|0:66,93:159:99:2687,0,1847:127
10	55943184	.	T	C	22702.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=725;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs7093302;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7093302" target="_blank">rs7093302</a>;ExAC.Info.AC=83994;ExAC.Info.AN=126644;ExAC.Info.AF=0.663;ExAC.Info.AC_Het=24528;ExAC.Info.AC_Hom=29728;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1590+20A>G;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1590+20A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.1590+20A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55943184">View</a>	GT:AD:DP:GQ:PL:TP	0/1:104,98:202:99:2957,0,2944:127	0/1:133,126:259:99:3575,0,3812:127	0/1:122,142:264:99:4432,0,3525:127
10	55973889	.	G	A	6950.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10763086;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10763086" target="_blank">rs10763086</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.986-81C>T;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.986-81C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.986-81C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:55973889">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,31:62:99:953,0,951:127	0/1:40,34:74:99:1042,0,1433:127	0/1:35,40:75:99:1286,0,1162:127
10	56077209	.	G	A	22953.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=709;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10740579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740579" target="_blank">rs10740579</a>;ExAC.Info.AC=83604;ExAC.Info.AN=126692;ExAC.Info.AF=0.660;ExAC.Info.AC_Het=25487;ExAC.Info.AC_Hom=29044;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039770;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.706-8C>T;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706C>T;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.706-8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.706-8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56077209">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039770" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:107,112:219:99:3154,0,3116:127	0/1:129,127:256:99:3694,0,3897:127	0/1:103,131:234:99:3914,0,2996:127
10	56089263	.	G	A	3262.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs857395;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=857395" target="_blank">rs857395</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.705+93C>T;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.705+93C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.705+93C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56089263">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,25:42:99:715,0,540:127	0/1:27,18:45:99:489,0,924:127	0/1:18,20:38:99:573,0,584:127
10	56287689	.	A	C	13198.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10825347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10825347" target="_blank">rs10825347</a>;ExAC.Info.AC=62276;ExAC.Info.AN=126592;ExAC.Info.AF=0.492;ExAC.Info.AC_Het=29466;ExAC.Info.AC_Hom=16003;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-52T>G;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.88-40636A>C;snpeff.Gene_Name=RP11-257I14.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422842;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-52T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.92-52T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56287689">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2184,180,0:127	1|1:0,73:73:99:2579,219,0:127	1|0:24,35:59:99:1124,0,693:127
10	56335067	.	A	G	4315.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=54;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs7070440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7070440" target="_blank">rs7070440</a>;ExAC.Info.AC=812;ExAC.Info.AN=994;ExAC.Info.AF=0.817;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.198+6632A>G;snpeff.Gene_Name=RP11-257I14.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-47430T>C;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-47430T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.92-47430T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56335067">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:487,36,0:56	1|1:0,23:23:69:896,69,0:56	1|1:0,19:19:57:735,57,0:56
10	56335099	.	C	T	5335.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10825362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10825362" target="_blank">rs10825362</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.198+6664C>T;snpeff.Gene_Name=RP11-257I14.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-47462G>A;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-47462G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.92-47462G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56335099">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:785,75,0:77	1|1:0,30:30:90:988,90,0:77	1|1:0,26:26:78:864,78,0:77
10	56345303	.	T	C	16510.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=213;MQ=70.27;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4570492;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4570492" target="_blank">rs4570492</a>;ExAC.Info.AC=11024;ExAC.Info.AN=12080;ExAC.Info.AF=0.913;ExAC.Info.AC_Het=351;ExAC.Info.AC_Hom=1377;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.198+16868T>C;snpeff.Gene_Name=RP11-257I14.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-57666A>G;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-57666A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.92-57666A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56345303">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2191,210,0:127	1|1:0,78:78:99:2803,234,0:127	1|1:0,65:65:99:2352,195,0:127
10	56345335	.	T	C	16347.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=223;MQ=70.25;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs2026413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2026413" target="_blank">rs2026413</a>;ExAC.Info.AC=8904;ExAC.Info.AN=11816;ExAC.Info.AF=0.754;ExAC.Info.AC_Het=397;ExAC.Info.AC_Hom=542;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.198+16900T>C;snpeff.Gene_Name=RP11-257I14.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-57698A>G;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-57698A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.92-57698A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56345335">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2819,213,0:127	1|1:0,81:81:99:2890,243,0:127	1|0:39,32:71:99:1250,0,1107:127
10	56345346	.	G	A	4253.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=230;MQ=70.24;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs72792585;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72792585" target="_blank">rs72792585</a>;ExAC.Info.AC=46;ExAC.Info.AN=13836;ExAC.Info.AF=3.325e-03;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.198+16911G>A;snpeff.Gene_Name=RP11-257I14.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-57709C>T;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-57709C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.92-57709C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56345346">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,37:71:99:976,0,984:127	0|0:81,0:81:99:0,244,2986:127	1|0:41,37:78:99:1028,0,1571:127
10	56345374	.	GT	G	630.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=203;MQ=70.34;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs71901521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71901521" target="_blank">rs71901521</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.198+16940delT;snpeff.Gene_Name=RP11-257I14.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-57738delA;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-57738delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.92-57738delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56345374">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,180,2572:127	0|0:82,0:82:99:0,251,3582:127	0|1:40,22:62:99:338,0,1518:127
10	56345378	.	T	TG	10196.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=193;MQ=70.36;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs11396767;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11396767" target="_blank">rs11396767</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.198+16944_198+16945insG;snpeff.Gene_Name=RP11-257I14.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-57741_92-57742insC;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-57742_92-57741insC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.92-57742_92-57741insC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56345378">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1395,147,0:127	1|1:1,74:75:99:2047,196,0:127	1|0:33,36:69:99:779,0,1092:127
10	56345425	.	G	A	10702.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=167;MQ=70.05;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs2026412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2026412" target="_blank">rs2026412</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.198+16990G>A;snpeff.Gene_Name=RP11-257I14.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-57788C>T;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-257I141" target="_blank">RP11-257I141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-57788C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.92-57788C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56345425">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1485,135,0:127	1|1:0,64:64:99:2205,192,0:127	1|0:26,32:58:99:946,0,788:127
10	56423968	.	A	C	27842.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=466;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1F|_602083_(3)|_Deafness|_autosomal_recessive_23|_609533_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B|B|B|B|B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11004439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11004439" target="_blank">rs11004439</a>;ExAC.Info.AC=26997;ExAC.Info.AN=126624;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=20449;ExAC.Info.AC_Hom=3166;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039763;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Gct;snpeff.Amino_Acid_Change=p.Ser19Ala/c.55T>G;snpeff.Amino_Acid_length=1957;snpeff.Gene_Name=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361849;SAVANT_GENE=PCDH15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH15" target="_blank">PCDH15</a>;SAVANT_INFO=-/980.1kb/34/7.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.55T>G_p.Ser19Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCDH15+c.55T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:56423968">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039763" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,147:147:99:4590,441,0:127	1|1:0,148:148:99:5099,444,0:127	1|0:112,59:171:99:1450,0,3302:127
10	58118630	.	T	C	10748.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=454;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2241666;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2241666" target="_blank">rs2241666</a>;ExAC.Info.AC=86004;ExAC.Info.AN=126702;ExAC.Info.AF=0.679;ExAC.Info.AC_Het=26492;ExAC.Info.AC_Hom=29703;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg187Gly/c.559A>G;snpeff.Amino_Acid_length=277;snpeff.Gene_Name=ZWINT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZWINT" target="_blank">ZWINT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373944;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373944;SAVANT_GENE=ZWINT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZWINT" target="_blank">ZWINT</a>;SAVANT_INFO=-/4.0kb/9/1.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.559A>G_p.Arg187Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZWINT+c.559A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:58118630">View</a>	GT:AD:DP:GQ:PL:TP	0|1:90,60:150:99:1481,0,2525:127	1|0:85,79:164:99:2152,0,2510:127	0|0:140,0:140:99:0,420,4671:127
10	58119976	.	G	A	23399.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3861049;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3861049" target="_blank">rs3861049</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.133-74C>T;snpeff.Amino_Acid_length=277;snpeff.Gene_Name=ZWINT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZWINT" target="_blank">ZWINT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373944;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373944;SAVANT_GENE=ZWINT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZWINT" target="_blank">ZWINT</a>;SAVANT_INFO=-/4.0kb/9/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.133-74C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZWINT+c.133-74C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:58119976">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2588,219,0:127	1|1:0,101:101:99:3730,304,0:127	1|1:0,79:79:99:2929,238,0:127
10	58121034	.	C	A	3565.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41305014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41305014" target="_blank">rs41305014</a>;ExAC.Info.AC=3752;ExAC.Info.AN=126632;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3507;ExAC.Info.AC_Hom=73;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=37;snpeff.Amino_Acid_Change=c.-37G>T;snpeff.Amino_Acid_length=277;snpeff.Gene_Name=ZWINT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZWINT" target="_blank">ZWINT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373944;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373944;SAVANT_GENE=ZWINT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZWINT" target="_blank">ZWINT</a>;SAVANT_INFO=-/4.0kb/9/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-37G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZWINT+c.-37G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:58121034">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,22:52:99:516,0,828:127	1|0:50,33:83:99:833,0,1499:127	0|0:71,1:72:99:0,181,2410:127
10	59958956	.	C	A	576.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1769044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1769044" target="_blank">rs1769044</a>;ExAC.Info.AC=31290;ExAC.Info.AN=125494;ExAC.Info.AF=0.249;ExAC.Info.AC_Het=14931;ExAC.Info.AC_Hom=3773;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.628+45G>T;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=IPMK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPMK" target="_blank">IPMK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373935;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373935;SAVANT_GENE=IPMK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPMK" target="_blank">IPMK</a>;SAVANT_INFO=-/76.4kb/6/6.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.628+45G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPMK+c.628+45G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:59958956">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1657:110	0|0:37,0:37:99:0,111,1332:110	0|1:20,12:32:99:307,0,637:110
10	59997644	.	A	T	854.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2790217;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2790217" target="_blank">rs2790217</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.191-69T>A;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=IPMK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPMK" target="_blank">IPMK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373935;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373935;SAVANT_GENE=IPMK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPMK" target="_blank">IPMK</a>;SAVANT_INFO=-/76.4kb/6/6.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.191-69T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPMK+c.191-69T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:59997644">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,1:35:66:0,66,1161:65	0|0:41,0:41:99:0,123,1438:65	0|1:30,18:48:99:446,0,913:65
10	60027122	.	C	T	1293.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1339580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1339580" target="_blank">rs1339580</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190+60G>A;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=IPMK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPMK" target="_blank">IPMK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373935;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373935;SAVANT_GENE=IPMK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPMK" target="_blank">IPMK</a>;SAVANT_INFO=-/76.4kb/6/6.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.190+60G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPMK+c.190+60G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60027122">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,976:77	0|0:27,0:27:81:0,81,1085:77	0|1:23,25:48:99:666,0,721:77
10	60029163	.	C	T	720.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1416763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1416763" target="_blank">rs1416763</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.31+99C>T;snpeff.Amino_Acid_length=108;snpeff.Gene_Name=CISD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CISD1" target="_blank">CISD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333926;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333926;SAVANT_GENE=CISD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CISD1" target="_blank">CISD1</a>;SAVANT_INFO=+/20.5kb/3/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.31+99C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CISD1+c.31+99C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60029163">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,816:77	0|0:37,0:37:99:0,111,1187:77	0|1:7,13:20:99:379,0,177:77
10	60036815	.	A	G	2054.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2254775;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2254775" target="_blank">rs2254775</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.32-62A>G;snpeff.Amino_Acid_length=108;snpeff.Gene_Name=CISD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CISD1" target="_blank">CISD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333926;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333926;SAVANT_GENE=CISD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CISD1" target="_blank">CISD1</a>;SAVANT_INFO=+/20.5kb/3/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.32-62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CISD1+c.32-62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60036815">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,297,3251:127	0|0:114,0:114:99:0,343,3994:127	0|1:51,36:87:99:1046,0,1523:127
10	60120681	.	CA	C	502.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs72051070;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72051070" target="_blank">rs72051070</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.25-416delA;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=UBE2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2D1" target="_blank">UBE2D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373910;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.25delA;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=UBE2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2D1" target="_blank">UBE2D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373910;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.25delA;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=UBE2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2D1" target="_blank">UBE2D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373910;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373910;SAVANT_GENE=UBE2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2D1" target="_blank">UBE2D1</a>;SAVANT_INFO=+/34.7kb/7/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.25-402delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBE2D1+c.25-402delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60120681">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,6:25:49:49,0,396:48	0/1:29,9:38:89:89,0,574:48	0/1:22,6:28:57:57,0,429:48
10	60147934	.	T	C	7448.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2277256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2277256" target="_blank">rs2277256</a>;ExAC.Info.AC=4756;ExAC.Info.AN=126694;ExAC.Info.AF=0.038;ExAC.Info.AC_Het=4465;ExAC.Info.AC_Hom=138;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.221-16T>C;snpeff.Amino_Acid_length=246;snpeff.Gene_Name=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000487519;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:HMG_box_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221T>C;snpeff.Amino_Acid_length=246;snpeff.Gene_Name=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000487519;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:HMG_box_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221T>C;snpeff.Amino_Acid_length=246;snpeff.Gene_Name=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000487519;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:HMG_box_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221T>C;snpeff.Amino_Acid_length=246;snpeff.Gene_Name=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000487519;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000487519;SAVANT_GENE=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;SAVANT_INFO=+/14.2kb/7/5.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.221-16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TFAM+c.221-16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60147934">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,63:116:99:2087,0,1414:127	0|0:148,0:148:99:0,445,5151:127	1|0:93,56:149:99:1548,0,2755:127
10	60148464	.	T	G	586.78	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs77418790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77418790" target="_blank">rs77418790</a>;ExAC.Info.AC=5355;ExAC.Info.AN=126690;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=4732;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326T>G;snpeff.Amino_Acid_length=246;snpeff.Gene_Name=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000487519;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326T>G;snpeff.Amino_Acid_length=246;snpeff.Gene_Name=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000487519;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:HMG_box_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326T>G;snpeff.Amino_Acid_length=246;snpeff.Gene_Name=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000487519;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:HMG_box_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326T>G;snpeff.Amino_Acid_length=246;snpeff.Gene_Name=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000487519;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:HMG_box_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326T>G;snpeff.Amino_Acid_length=246;snpeff.Gene_Name=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000487519;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTa/gGa;snpeff.Amino_Acid_Change=p.Val109Gly/c.326T>G;snpeff.Amino_Acid_length=246;snpeff.Gene_Name=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000487519;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000487519;SAVANT_GENE=TFAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAM" target="_blank">TFAM</a>;SAVANT_INFO=+/14.2kb/7/5.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.326T>G_p.Val109Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TFAM+c.326T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60148464">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,12:90:35:0,35,2297:6	0|0:97,20:117:5:0,5,3003:6	0|1:78,22:100:99:226,0,2334:6
10	60272808	.	C	T	517.33	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=15;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60272808">View</a>	GT:AD:DP:GQ:PL:TP	1|0:6,2:8:40:40,0,202:9	0|0:3,0:3:9:0,9,123:9	1|0:2,2:4:49:49,0,72:9
10	60273121	.	T	C	10629.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7100474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7100474" target="_blank">rs7100474</a>;ExAC.Info.AC=60687;ExAC.Info.AN=126398;ExAC.Info.AF=0.480;ExAC.Info.AC_Het=29090;ExAC.Info.AC_Hom=14435;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190+28T>C;snpeff.Amino_Acid_length=974;snpeff.Gene_Name=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373886;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373886;SAVANT_GENE=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;SAVANT_INFO=+/318.3kb/21/5.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.190+28T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BICC1+c.190+28T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60273121">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,43:71:99:1314,0,715:127	0|0:99,0:99:99:0,297,3445:127	1|1:0,76:76:99:2817,229,0:127
10	60273155	.	C	A	6167.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7079648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7079648" target="_blank">rs7079648</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190+62C>A;snpeff.Amino_Acid_length=974;snpeff.Gene_Name=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373886;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373886;SAVANT_GENE=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;SAVANT_INFO=+/318.3kb/21/5.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.190+62C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BICC1+c.190+62C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60273155">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,31:50:99:756,0,494:127	0|0:79,0:79:99:0,237,2716:127	1|1:0,57:57:99:1862,170,0:127
10	60558125	.	A	T	38232.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=834;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2393503;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2393503" target="_blank">rs2393503</a>;ExAC.Info.AC=87003;ExAC.Info.AN=126472;ExAC.Info.AF=0.688;ExAC.Info.AC_Het=24890;ExAC.Info.AC_Hom=29825;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1367-34A>T;snpeff.Amino_Acid_length=974;snpeff.Gene_Name=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373886;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373886;SAVANT_GENE=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;SAVANT_INFO=+/318.3kb/21/5.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1367-34A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BICC1+c.1367-34A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60558125">View</a>	GT:AD:DP:GQ:PL:TP	0|1:117,139:256:99:3893,0,3066:127	1|1:0,300:300:99:10617,902,0:127	0|1:140,138:278:99:4063,0,3924:127
10	60559047	.	G	C	11019.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=204;MQ=69.80;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2893789;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2893789" target="_blank">rs2893789</a>;ExAC.Info.AC=84672;ExAC.Info.AN=111634;ExAC.Info.AF=0.758;ExAC.Info.AC_Het=6103;ExAC.Info.AC_Hom=11886;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1725+35G>C;snpeff.Amino_Acid_length=974;snpeff.Gene_Name=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373886;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373886;SAVANT_GENE=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;SAVANT_INFO=+/318.3kb/21/5.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1725+35G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BICC1+c.1725+35G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60559047">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,41:71:99:1322,0,879:127	1|1:0,77:77:99:3007,232,0:127	0|1:30,26:56:99:788,0,1025:127
10	60573753	.	G	T	38724.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=827;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9416746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9416746" target="_blank">rs9416746</a>;ExAC.Info.AC=94590;ExAC.Info.AN=126680;ExAC.Info.AF=0.747;ExAC.Info.AC_Het=23469;ExAC.Info.AC_Hom=35511;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2533+7G>T;snpeff.Amino_Acid_length=974;snpeff.Gene_Name=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373886;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2534G>T;snpeff.Amino_Acid_length=974;snpeff.Gene_Name=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373886;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373886;SAVANT_GENE=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;SAVANT_INFO=+/318.3kb/21/5.5kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2533+7G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BICC1+c.2533+7G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60573753">View</a>	GT:AD:DP:GQ:PL:TP	0|1:134,139:273:99:3838,0,3805:127	1|1:0,314:314:99:11166,943,0:127	0|1:125,115:240:99:3389,0,3725:127
10	60577393	.	T	C	34124.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=713;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs4344442;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4344442" target="_blank">rs4344442</a>;ExAC.Info.AC=94621;ExAC.Info.AN=126662;ExAC.Info.AF=0.747;ExAC.Info.AC_Het=23440;ExAC.Info.AC_Hom=35486;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Tta/Cta;snpeff.Amino_Acid_Change=p.Leu869Leu/c.2605T>C;snpeff.Amino_Acid_length=974;snpeff.Gene_Name=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373886;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373886;SAVANT_GENE=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;SAVANT_INFO=+/318.3kb/21/5.5kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2605T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BICC1+c.2605T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60577393">View</a>	GT:AD:DP:GQ:PL:TP	0|1:136,112:248:99:3351,0,3963:127	1|1:0,227:227:99:8329,682,0:127	0|1:93,145:238:99:4497,0,2700:127
10	60588553	.	T	C	21877.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=410;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4948550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4948550" target="_blank">rs4948550</a>;ExAC.Info.AC=88773;ExAC.Info.AN=126688;ExAC.Info.AF=0.701;ExAC.Info.AC_Het=25143;ExAC.Info.AC_Hom=31744;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcg/Ccg;snpeff.Amino_Acid_Change=p.Ser943Pro/c.2827T>C;snpeff.Amino_Acid_length=974;snpeff.Gene_Name=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373886;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373886;SAVANT_GENE=BICC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BICC1" target="_blank">BICC1</a>;SAVANT_INFO=+/318.3kb/21/5.5kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2827T>C_p.Ser943Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BICC1+c.2827T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:60588553">View</a>	GT:AD:DP:GQ:PL:TP	0|1:69,60:129:99:1794,0,1852:127	1|1:0,175:175:99:5983,524,0:127	0|1:53,53:106:99:1708,0,1560:127
10	61005244	.	G	C	21837.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2452505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2452505" target="_blank">rs2452505</a>;ExAC.Info.AC=102898;ExAC.Info.AN=126702;ExAC.Info.AF=0.812;ExAC.Info.AC_Het=18003;ExAC.Info.AC_Hom=42412;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ctg;snpeff.Amino_Acid_Change=p.Val342Leu/c.1024G>C;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=PHYHIPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHYHIPL" target="_blank">PHYHIPL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373880;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373880;SAVANT_GENE=PHYHIPL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHYHIPL" target="_blank">PHYHIPL</a>;SAVANT_INFO=+/71.2kb/5/3.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1024G>C_p.Val342Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHYHIPL+c.1024G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61005244">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,59:112:99:1855,0,1523:127	0|1:94,103:197:99:3130,0,2799:127	1|1:0,131:131:99:4938,394,0:127
10	61014056	.	C	A	7681.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1903252;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1903252" target="_blank">rs1903252</a>;ExAC.Info.AC=102243;ExAC.Info.AN=126600;ExAC.Info.AF=0.808;ExAC.Info.AC_Het=17654;ExAC.Info.AC_Hom=41549;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1395+52G>T;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=FAM13C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM13C" target="_blank">FAM13C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442566;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373868;SAVANT_GENE=FAM13C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM13C" target="_blank">FAM13C</a>;SAVANT_INFO=-/116.4kb/14/3.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1332+52G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM13C+c.1332+52G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61014056">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,40:60:99:1148,0,514:127	0|1:43,36:79:99:1004,0,1267:127	1|1:0,44:44:99:1593,132,0:127
10	61062538	.	T	C	2892.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72808548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72808548" target="_blank">rs72808548</a>;ExAC.Info.AC=24105;ExAC.Info.AN=126698;ExAC.Info.AF=0.190;ExAC.Info.AC_Het=19075;ExAC.Info.AC_Hom=2506;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.507+23A>G;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=FAM13C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM13C" target="_blank">FAM13C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442566;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373868;SAVANT_GENE=FAM13C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM13C" target="_blank">FAM13C</a>;SAVANT_INFO=-/116.4kb/14/3.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.507+23A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM13C+c.507+23A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61062538">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,360,3791:127	0|0:128,0:128:99:0,384,4122:127	0|1:51,52:103:99:1465,0,1433:127
10	61083690	.	A	AGTTG	8691.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs34090373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34090373" target="_blank">rs34090373</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.443+58_443+57insCAAC;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=FAM13C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM13C" target="_blank">FAM13C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442566;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373868;SAVANT_GENE=FAM13C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM13C" target="_blank">FAM13C</a>;SAVANT_INFO=-/116.4kb/14/3.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.443+57_443+58insCAAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM13C+c.443+57_443+58insCAAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61083690">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,27:45:99:1079,0,788:127	0|0:62,0:62:99:0,187,3110:127	1|1:0,53:53:99:2513,168,0:127
10	61122268	.	T	TTA	9308.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3078330;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3078330" target="_blank">rs3078330</a>;ExAC.Info.AC=126296;ExAC.Info.AN=126456;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=112;ExAC.Info.AC_Hom=53511;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=49;snpeff.Amino_Acid_Change=c.-49_-50insTA;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=FAM13C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM13C" target="_blank">FAM13C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000442566;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373868;SAVANT_GENE=FAM13C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM13C" target="_blank">FAM13C</a>;SAVANT_INFO=-/116.4kb/14/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-49_-48insTA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM13C+c.-49_-48insTA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61122268">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:1215,81,0:74	1|1:0,27:27:81:1179,81,0:74	1|1:0,25:25:75:1125,75,0:74
10	61414011	.	G	T	14624.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=862;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2242206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2242206" target="_blank">rs2242206</a>;ExAC.Info.AC=42636;ExAC.Info.AN=126704;ExAC.Info.AF=0.337;ExAC.Info.AC_Het=25481;ExAC.Info.AC_Hom=8576;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCa/aAa;snpeff.Amino_Acid_Change=p.Thr258Lys/c.773C>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=SLC16A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A9" target="_blank">SLC16A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395348;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395348;SAVANT_GENE=SLC16A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A9" target="_blank">SLC16A9</a>;SAVANT_INFO=-/59.3kb/6/4.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.773C>A_p.Thr258Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC16A9+c.773C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61414011">View</a>	GT:AD:DP:GQ:PL:TP	1|0:128,108:236:99:2914,0,3746:127	0|0:362,0:362:99:0,1088,12881:127	1|0:137,127:264:99:3334,0,3880:127
10	61414176	.	G	A	9648.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=454;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56370926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56370926" target="_blank">rs56370926</a>;ExAC.Info.AC=5188;ExAC.Info.AN=126704;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4906;ExAC.Info.AC_Hom=140;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCt/gTt;snpeff.Amino_Acid_Change=p.Ala203Val/c.608C>T;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=SLC16A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A9" target="_blank">SLC16A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395348;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395348;SAVANT_GENE=SLC16A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A9" target="_blank">SLC16A9</a>;SAVANT_INFO=-/59.3kb/6/4.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.608C>T_p.Ala203Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC16A9+c.608C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61414176">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,61:124:99:1670,0,1952:127	1|0:100,79:179:99:2245,0,3207:127	0|0:151,0:151:99:0,453,5394:127
10	61443808	.	A	G	4807.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1171660;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1171660" target="_blank">rs1171660</a>;ExAC.Info.AC=54022;ExAC.Info.AN=126532;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=27426;ExAC.Info.AC_Hom=12461;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.196+46T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=SLC16A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A9" target="_blank">SLC16A9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395348;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395348;SAVANT_GENE=SLC16A9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A9" target="_blank">SLC16A9</a>;SAVANT_INFO=-/59.3kb/6/4.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.196+46T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC16A9+c.196+46T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61443808">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,32:67:99:929,0,1011:127	0|0:82,0:82:99:0,246,2861:127	1|0:25,33:58:99:950,0,700:127
10	61552692	.	G	T	8130.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Thyroid_papillary_carcinoma|_188550_(1);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1053266;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1053266" target="_blank">rs1053266</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=63315;ExAC.Info.AN=126674;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=29880;ExAC.Info.AC_Hom=16394;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Acc;snpeff.Amino_Acid_Change=p.Pro470Thr/c.1408C>A;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263102;SAVANT_GENE=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;SAVANT_INFO=-/117.9kb/9/5.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1408C>A_p.Pro470Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC6+c.1408C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61552692">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,46:111:99:1347,0,1855:127	0|0:135,0:135:99:0,406,5080:127	1|0:63,59:122:99:1681,0,1890:127
10	61552774	.	C	T	5296.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Thyroid_papillary_carcinoma|_188550_(1);dbSNP139.ID=rs1053265;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1053265" target="_blank">rs1053265</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=92104;ExAC.Info.AN=126698;ExAC.Info.AF=0.727;ExAC.Info.AC_Het=23551;ExAC.Info.AC_Hom=34242;snpeff.Effect=sequence_feature[compositionally_biased_region:Poly-Pro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1326C>T;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:SH3-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1326C>T;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro442Pro/c.1326G>A;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263102;SAVANT_GENE=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;SAVANT_INFO=-/117.9kb/9/5.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1326G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC6+c.1326G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61552774">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,16:38:99:381,0,612:127	0/1:37,35:72:99:997,0,1080:127	0/1:23,27:50:99:817,0,671:127
10	61592447	.	G	C	14838.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=473;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Thyroid_papillary_carcinoma|_188550_(1);dbSNP139.ID=rs6479653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6479653" target="_blank">rs6479653</a>;ExAC.Info.AC=17702;ExAC.Info.AN=126660;ExAC.Info.AF=0.140;ExAC.Info.AC_Het=14265;ExAC.Info.AC_Hom=1590;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.454-36C>G;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5_X_29_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5_X_29_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5_X_29_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:5_X_29_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.454G>C;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263102;SAVANT_GENE=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;SAVANT_INFO=-/117.9kb/9/5.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.454-36C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC6+c.454-36C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61592447">View</a>	GT:AD:DP:GQ:PL:TP	0/1:81,60:141:99:1679,0,2299:127	0/1:85,77:162:99:2166,0,2475:127	0/1:88,82:170:99:2268,0,2359:127
10	61612466	.	TA	T	1155.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=58;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Thyroid_papillary_carcinoma|_188550_(1);dbSNP139.ID=rs3215226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215226" target="_blank">rs3215226</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.304-7delT;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Breakpoint_for_translocation_to_form_RET-CCDC6_oncogene];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304delA;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[site:Breakpoint_for_translocation_to_form_RET-CCDC6_oncogene];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304delA;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304delA;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304delA;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304delA;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304delA;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304delA;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304delT;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263102;SAVANT_GENE=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;SAVANT_INFO=-/117.9kb/9/5.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.304-7delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC6+c.304-7delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61612466">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,12:17:78:247,0,78:77	0/1:10,10:20:99:196,0,207:77	0/1:13,8:21:99:142,0,269:77
10	61665886	.	C	A	3868.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Thyroid_papillary_carcinoma|_188550_(1);dbSNP139.ID=rs1171830;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1171830" target="_blank">rs1171830</a>;ExAC.Info.AC=58823;ExAC.Info.AN=126646;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=28879;ExAC.Info.AC_Hom=14637;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>A;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>A;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>A;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>A;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>A;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtT;snpeff.Amino_Acid_Change=p.Val99Val/c.297G>T;snpeff.Amino_Acid_length=474;snpeff.Gene_Name=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263102;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263102;SAVANT_GENE=CCDC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC6" target="_blank">CCDC6</a>;SAVANT_INFO=-/117.9kb/9/5.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.297G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC6+c.297G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61665886">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,16:23:99:496,0,210:127	0/1:14,22:36:99:621,0,403:127	0/1:10,12:22:99:384,0,269:127
10	61802375	.	A	T	37080.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=628;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs2393606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2393606" target="_blank">rs2393606</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*19+55T>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*74T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.*74T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61802375">View</a>	GT:AD:DP:GQ:PL:TP	1|0:94,106:200:99:4135,0,5351:127	0|1:111,107:218:99:4189,0,5987:127	1|1:0,210:210:99:9368,632,0:127
10	61802550	.	A	T	19654.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=603;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs9888033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9888033" target="_blank">rs9888033</a>;ExAC.Info.AC=72908;ExAC.Info.AN=126664;ExAC.Info.AF=0.576;ExAC.Info.AC_Het=30212;ExAC.Info.AC_Hom=21309;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13066-33T>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In42/43;SAVANT_HGVS=c.13066-33T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.13066-33T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61802550">View</a>	GT:AD:DP:GQ:PL:TP	0/1:93,126:219:99:3745,0,2709:127	0/1:96,100:196:99:3187,0,2991:127	0/1:94,94:188:99:2755,0,2993:127
10	61815367	.	C	T	28324.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=970;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs4948384;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4948384" target="_blank">rs4948384</a>;ExAC.Info.AC=20520;ExAC.Info.AN=126354;ExAC.Info.AF=0.162;ExAC.Info.AC_Het=16026;ExAC.Info.AC_Hom=1851;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.13065+49G>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In42/43;SAVANT_HGVS=c.13065+49G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.13065+49G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61815367">View</a>	GT:AD:DP:GQ:PL:TP	1|0:168,149:317:99:3763,0,4803:127	0|0:357,0:357:99:0,1073,12944:127	1|1:0,296:296:99:9801,888,0:127
10	61819049	.	T	G	29555.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs10733757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10733757" target="_blank">rs10733757</a>;ExAC.Info.AC=102702;ExAC.Info.AN=126668;ExAC.Info.AF=0.811;ExAC.Info.AC_Het=18854;ExAC.Info.AC_Hom=41679;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12686+49A>C;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.137-43T>G;snpeff.Gene_Name=RP11-388P9.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.12686+49A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.12686+49A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61819049">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:3707,337,0:127	1|1:0,154:154:99:5251,462,0:127	1|1:0,118:118:99:3932,355,0:127
10	61824076	.	T	A	7218.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs75243240;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75243240" target="_blank">rs75243240</a>;ExAC.Info.AC=3874;ExAC.Info.AN=126602;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3532;ExAC.Info.AC_Hom=145;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12320-30A>T;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Death];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12320T>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Death];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12320T>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Death];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12320T>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.12320-30A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.12320-30A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61824076">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,43:90:99:1343,0,1385:127	1|0:78,60:138:99:1809,0,2474:127	0|0:127,0:127:99:0,382,4517:127
10	61827623	.	T	A	5865.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs41274668;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41274668" target="_blank">rs41274668</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12319+70A>T;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Death];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12320T>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Death];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12320T>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Death];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12320T>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.12319+70A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.12319+70A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61827623">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,57:113:99:1505,0,1570:127	1|0:63,50:113:99:1445,0,1925:127	0|0:113,0:113:99:0,340,4136:127
10	61831271	.	T	C	9976.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=431;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10821668;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10821668" target="_blank">rs10821668</a>;ExAC.Info.AC=25714;ExAC.Info.AN=126704;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=19455;ExAC.Info.AC_Hom=3125;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116349;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys3123Arg/c.9368A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.9368A>G_p.Lys3123Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.9368A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61831271">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116349" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:64,57:121:99:1686,0,1824:127	0|0:175,0:175:99:0,526,6409:127	1|0:65,70:135:99:1940,0,2375:127
10	61831290	.	T	C	4032.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=485;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28932171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28932171" target="_blank">rs28932171</a>;ExAC.Info.AC=9404;ExAC.Info.AN=126694;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=8371;ExAC.Info.AC_Hom=516;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116348;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile3117Val/c.9349A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.9349A>G_p.Ile3117Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.9349A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61831290">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116348" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:143,0:143:99:0,433,5322:127	0|0:200,0:200:99:0,601,6830:127	0|1:75,67:142:99:2035,0,2844:127
10	61831651	.	C	G	21302.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1032;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41274672;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41274672" target="_blank">rs41274672</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=2580;ExAC.Info.AN=126698;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=2464;ExAC.Info.AC_Hom=58;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116345;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caC;snpeff.Amino_Acid_Change=p.Gln2996His/c.8988G>C;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.8988G>C_p.Gln2996His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.8988G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61831651">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116345" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:160,168:328:99:5158,0,4768:127	1|0:196,164:360:99:4836,0,5917:127	0|0:344,0:344:99:0,1032,11915:127
10	61831744	.	A	G	19180.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1026;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs10740006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740006" target="_blank">rs10740006</a>;ExAC.Info.AC=25734;ExAC.Info.AN=126688;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=19460;ExAC.Info.AC_Hom=3128;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116344;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala2965Ala/c.8895T>C;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.8895T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.8895T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61831744">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116344" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:184,133:317:99:3806,0,5470:127	0|0:383,0:383:99:0,1151,13988:127	1|0:157,169:326:99:4755,0,4691:127
10	61831984	.	G	T	4076.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=459;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11599164;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11599164" target="_blank">rs11599164</a>;ExAC.Info.AC=9364;ExAC.Info.AN=126674;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=8338;ExAC.Info.AC_Hom=503;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116343;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caC/caA;snpeff.Amino_Acid_Change=p.His2885Gln/c.8655C>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.8655C>A_p.His2885Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.8655C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61831984">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116343" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,370,4583:127	0|0:195,0:195:99:0,586,7270:127	0|1:74,67:141:99:2057,0,2152:127
10	61834573	.	G	A	3640.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs17208576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17208576" target="_blank">rs17208576</a>;ExAC.Info.AC=9374;ExAC.Info.AN=126702;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=8359;ExAC.Info.AC_Hom=506;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116337;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala2022Ala/c.6066C>T;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.6066C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.6066C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61834573">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116337" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:136,0:136:99:0,408,4555:127	0|0:164,0:164:99:0,493,5697:127	0|1:72,62:134:99:1839,0,2144:127
10	61841144	.	A	G	1070.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs7098848;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7098848" target="_blank">rs7098848</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4350+764T>C;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.4350+764T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.4350+764T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61841144">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1778:127	0|0:54,0:54:99:0,162,1876:127	0|1:31,22:53:99:554,0,849:127
10	61842498	.	A	G	3582.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs2393595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2393595" target="_blank">rs2393595</a>;ExAC.Info.AC=11193;ExAC.Info.AN=126680;ExAC.Info.AF=0.088;ExAC.Info.AC_Het=9856;ExAC.Info.AC_Hom=664;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116335;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4201-3T>C;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4201A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4201A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4201A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4201A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4201T>C;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.4201-3T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.4201-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61842498">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116335" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,259,3146:127	0|0:135,0:135:99:0,405,4755:127	0|1:50,59:109:99:1810,0,1491:127
10	61868716	.	C	A	13521.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3750800;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750800" target="_blank">rs3750800</a>;ExAC.Info.AC=33537;ExAC.Info.AN=126700;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=23122;ExAC.Info.AC_Hom=5205;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116332;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3045C>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3045C>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3045C>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acT;snpeff.Amino_Acid_Change=p.Thr1015Thr/c.3045G>T;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3045G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.3045G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61868716">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116332" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:40,60:100:99:1827,0,1136:127	0/1:77,72:149:99:2160,0,2260:127	0/1:66,62:128:99:1811,0,1967:127
10	61868886	.	G	A	6964.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs7922387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7922387" target="_blank">rs7922387</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2949-74C>T;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2949G>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2949G>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2949G>A;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2949-74C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.2949-74C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61868886">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,50:117:99:1294,0,1893:127	1|0:70,78:148:99:2077,0,2021:127	0|0:122,0:122:99:0,367,4327:127
10	61871598	.	A	G	1586.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs4369346;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4369346" target="_blank">rs4369346</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2948+2385T>C;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2949A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2949A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2949A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2948+2385T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.2948+2385T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61871598">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1691:127	0|0:66,0:66:99:0,198,2310:127	0|1:25,27:52:99:812,0,678:127
10	61926728	.	A	G	11659.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs11814723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11814723" target="_blank">rs11814723</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2479-74T>C;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2479-74T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.2479-74T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:61926728">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1451,117,0:125	1|1:0,49:49:99:1859,147,0:125	1|1:0,42:42:99:1636,126,0:125
10	62021593	.	T	C	1314.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs16914671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16914671" target="_blank">rs16914671</a>;ExAC.Info.AC=3939;ExAC.Info.AN=126690;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3708;ExAC.Info.AC_Hom=111;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.798+24A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.798+24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.798+24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:62021593">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,1811:127	0|0:68,1:69:99:0,197,2299:127	0|1:33,23:56:99:676,0,906:127
10	62038544	.	A	G	5138.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=662;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs1031688;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1031688" target="_blank">rs1031688</a>;ExAC.Info.AC=2738;ExAC.Info.AN=126700;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2657;ExAC.Info.AC_Hom=39;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000116334;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[repeat:ANK_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.402A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn134Asn/c.402T>C;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.402T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.402T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:62038544">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000116334" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:201,0:201:99:0,604,6726:127	0|0:264,0:264:99:0,793,8984:127	0|1:102,95:197:99:2588,0,3011:127
10	62038941	.	G	C	1848.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs17807133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17807133" target="_blank">rs17807133</a>;ExAC.Info.AC=2560;ExAC.Info.AN=126676;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=2476;ExAC.Info.AC_Hom=38;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.217-35C>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.217-35C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.217-35C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:62038941">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,2040:127	0|0:89,0:89:99:0,268,3261:127	0|1:39,36:75:99:943,0,1231:127
10	62039708	.	T	C	5024.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=465;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs72822211;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72822211" target="_blank">rs72822211</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.115-311A>G;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.115-311A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.115-311A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:62039708">View</a>	GT:AD:DP:GQ:PL:TP	0|0:143,0:143:99:0,430,4864:127	0|0:166,0:166:99:0,499,5809:127	0|1:68,88:156:99:2531,0,2021:127
10	62039800	.	C	A	4716.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=543;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=?Mental_retardation|_autosomal_recessive|_37|_615493_(3);dbSNP139.ID=rs72822212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72822212" target="_blank">rs72822212</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.115-403G>T;snpeff.Amino_Acid_length=4377;snpeff.Gene_Name=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280772;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280772;SAVANT_GENE=ANK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANK3" target="_blank">ANK3</a>;SAVANT_INFO=-/361.3kb/44/14.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.115-403G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANK3+c.115-403G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:62039800">View</a>	GT:AD:DP:GQ:PL:TP	0|0:154,0:154:99:0,462,5524:127	0|0:191,1:192:99:0,567,6853:127	0|1:108,89:197:99:2377,0,3052:127
10	62539788	.	C	G	3906.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2260179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2260179" target="_blank">rs2260179</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-25-111C>G;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=CDK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK1" target="_blank">CDK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448257;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395284;SAVANT_GENE=CDK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK1" target="_blank">CDK1</a>;SAVANT_INFO=+/16.4kb/8/1.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-136C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK1+c.-136C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:62539788">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,9:20:99:303,0,347:96	1|1:0,32:32:96:1118,96,0:96	0|1:16,9:25:99:259,0,516:96
10	62551889	.	A	G	31348.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2456777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2456777" target="_blank">rs2456777</a>;ExAC.Info.AC=98110;ExAC.Info.AN=126496;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=21221;ExAC.Info.AC_Hom=37667;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.654-17A>G;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=CDK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK1" target="_blank">CDK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448257;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395284;SAVANT_GENE=CDK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK1" target="_blank">CDK1</a>;SAVANT_INFO=+/16.4kb/8/1.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.654-17A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK1+c.654-17A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:62551889">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:4212,283,0:127	1|1:0,111:111:99:5019,337,0:127	1|1:0,95:95:99:4269,286,0:127
10	62551890	.	A	T	31348.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2456778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2456778" target="_blank">rs2456778</a>;ExAC.Info.AC=100011;ExAC.Info.AN=126488;ExAC.Info.AF=0.791;ExAC.Info.AC_Het=20300;ExAC.Info.AC_Hom=39078;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.654-16A>T;snpeff.Amino_Acid_length=297;snpeff.Gene_Name=CDK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK1" target="_blank">CDK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448257;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395284;SAVANT_GENE=CDK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDK1" target="_blank">CDK1</a>;SAVANT_INFO=+/16.4kb/8/1.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.654-16A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDK1+c.654-16A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:62551890">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:4212,283,0:127	1|1:0,112:112:99:5019,337,0:127	1|1:0,94:94:99:4269,286,0:127
10	63170292	.	A	G	9388.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1057;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7083475;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7083475" target="_blank">rs7083475</a>;ExAC.Info.AC=24053;ExAC.Info.AN=125782;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=18733;ExAC.Info.AC_Hom=2625;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu299Leu/c.895T>C;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=TMEM26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM26" target="_blank">TMEM26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399298;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399298;SAVANT_GENE=TMEM26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM26" target="_blank">TMEM26</a>;SAVANT_INFO=-/46.8kb/6/5.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.895T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM26+c.895T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63170292">View</a>	GT:AD:DP:GQ:PL:TP	0|0:314,1:315:99:0,907,10102:127	0|1:228,166:394:99:4712,0,6335:127	0|0:348,0:348:99:0,1045,11508:127
10	63422754	.	G	GGGGCCGACCCCGGCA	13193.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs151189963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=151189963" target="_blank">rs151189963</a>;ExAC.Info.AC=14713;ExAC.Info.AN=16068;ExAC.Info.AF=0.916;ExAC.Info.AC_Het=25;ExAC.Info.AC_Hom=2450;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=18246;snpeff.Amino_Acid_Change=c.-269_-270insGGGCCGACCCCGGCA;snpeff.Amino_Acid_length=208;snpeff.Gene_Name=C10orf107;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf107" target="_blank">C10orf107</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330194;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000330194;SAVANT_GENE=C10orf107;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf107" target="_blank">C10orf107</a>;SAVANT_INFO=+/103.8kb/7/1.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-18233_-18232insAGGGCCGACCCCGGC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf107+c.-18233_-18232insAGGGCCGACCCCGGC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63422754">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1775,156,0:127	1|1:0,41:41:99:1625,139,0:127	1|1:0,41:41:99:1686,149,0:127
10	63520698	.	T	C	8925.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1992625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1992625" target="_blank">rs1992625</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=105664;ExAC.Info.AN=126678;ExAC.Info.AF=0.834;ExAC.Info.AC_Het=17093;ExAC.Info.AC_Hom=44175;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe163Phe/c.489T>C;snpeff.Amino_Acid_length=208;snpeff.Gene_Name=C10orf107;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf107" target="_blank">C10orf107</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330194;SAVANT_GENE=C10orf107;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf107" target="_blank">C10orf107</a>;SAVANT_INFO=+/103.8kb/7/1.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.489T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf107+c.489T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63520698">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,22:44:99:703,0,553:127	1|1:0,66:66:99:2343,198,0:127	0|1:23,36:59:99:996,0,615:127
10	63723577	.	C	T	23652.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=556;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10821936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10821936" target="_blank">rs10821936</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.502+23410C>T;snpeff.Amino_Acid_length=1188;snpeff.Gene_Name=ARID5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID5B" target="_blank">ARID5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000279873;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000279873;SAVANT_GENE=ARID5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARID5B" target="_blank">ARID5B</a>;SAVANT_INFO=+/195.6kb/10/7.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.502+23410C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARID5B+c.502+23410C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63723577">View</a>	GT:AD:DP:GQ:PL:TP	0|1:101,95:196:99:2503,0,2973:127	1|1:0,195:195:99:6437,585,0:127	0|1:96,69:165:99:1822,0,3024:127
10	63944176	.	A	C	16700.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3125730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3125730" target="_blank">rs3125730</a>;ExAC.Info.AC=19963;ExAC.Info.AN=19994;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=8680;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63944176">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1612,141,0:127	1|1:0,93:93:99:3127,279,0:127	1|1:0,67:67:99:2322,201,0:127
10	63944188	.	A	G	7647.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7903510;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7903510" target="_blank">rs7903510</a>;ExAC.Info.AC=5800;ExAC.Info.AN=21360;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=3388;ExAC.Info.AC_Hom=834;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63944188">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,26:48:99:723,0,578:127	0|0:83,0:83:99:0,249,2812:127	1|1:0,67:67:99:2353,201,0:127
10	63958112	.	T	C	18085.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=536;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3125734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3125734" target="_blank">rs3125734</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Rheumatoid_arthritis|_susceptibility_to|_association_with;hgmd_2014.2.PubMed=23028356;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23028356" target="_blank">23028356</a>;ExAC.Info.AC=80315;ExAC.Info.AN=126696;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=27093;ExAC.Info.AC_Hom=26575;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His462Arg/c.1385A>G;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1385A>G_p.His462Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.1385A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63958112">View</a>	GT:AD:DP:GQ:PL:TP	0|1:87,77:164:99:1981,0,2479:127	1|1:0,176:176:99:5935,529,0:127	0|0:196,0:196:99:0,589,6753:127
10	63977011	.	GAAAAA	G	17427.11	VQSRTrancheINDEL99.00to99.90	InheritancePattern=unknown;AC=3;AF=1.00;AN=3;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./.;NA12891_GT=1/1;dbSNP139.ID=rs148142088;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148142088" target="_blank">rs148142088</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.889-8_889-4delTTTTT;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889_893delAAAAA;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889_893delAAAAA;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889_893delAAAAA;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889_893delTTTTT;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.889-8_889-4del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.889-8_889-4del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63977011">View</a>	GT:AD:DP:GQ:PL	./1:4,66:98:99:2556,186,1387	1/1:0,133:134:99:5392,380,0	./.:18,0:72:92:397,714,4198
10	63977011	.	GAAAAA	GAAAA	17427.11	VQSRTrancheINDEL99.00to99.90	InheritancePattern=unknown;AC=1;AF=1.00;AN=1;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=./1;NA12891_GT=./.;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.889-8delT;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889delA;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889delA;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889delA;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889delT;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.889-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.889-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63977011">View</a>	GT:AD:DP:GQ:PL	./.:4,7:98:99:2556,2520,2859	./.:0,0:134:99:5392,5390,5388	./1:18,24:72:92:397,152,862
10	63977011	.	GAAAAA	GAAAAAA	17427.11	VQSRTrancheINDEL99.00to99.90	InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./.;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.889-8_889-9insT;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889_890insA;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889_890insA;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889_890insA;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.889-4dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.889-4dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63977011">View</a>	GT:AD:DP:GQ:PL	./1:4,21:98:99:2556,2311,2378	./.:0,1:134:99:5392,5378,5375	./1:18,30:72:92:397,92,522
10	63977980	.	C	T	9514.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61850830;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61850830" target="_blank">rs61850830</a>;ExAC.Info.AC=14105;ExAC.Info.AN=126696;ExAC.Info.AF=0.111;ExAC.Info.AC_Het=11989;ExAC.Info.AC_Hom=1049;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.862C>T;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.862C>T;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.862C>T;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala288Thr/c.862G>A;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.862G>A_p.Ala288Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.862G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63977980">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,47:105:99:1159,0,1577:127	0|0:117,0:117:99:0,351,4029:127	1|1:2,103:105:99:3177,265,0:127
10	63978077	.	GA	G	3581.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11355398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11355398" target="_blank">rs11355398</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.782-18delT;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.782-18delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.782-18delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63978077">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,17:29:99:392,0,250:95	1|1:0,46:46:99:1280,138,0:95	0|0:32,0:32:96:0,96,881:95
10	63982984	.	A	G	6573.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs10740069;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740069" target="_blank">rs10740069</a>;ExAC.Info.AC=96574;ExAC.Info.AN=126632;ExAC.Info.AF=0.763;ExAC.Info.AC_Het=21931;ExAC.Info.AC_Hom=37215;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.781+13T>C;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.781+13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.781+13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63982984">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,26:46:99:745,0,541:127	1|1:0,64:64:99:2306,192,0:127	0|0:54,0:54:99:0,162,1836:127
10	63983069	.	C	T	106.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala237Thr/c.709G>A;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.709G>A_p.Ala237Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.709G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63983069">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2416:72	0|0:88,0:88:99:0,264,3093:72	0|1:85,10:95:72:72,0,2524:72
10	63995983	.	C	T	8095.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3852448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3852448" target="_blank">rs3852448</a>;ExAC.Info.AC=112417;ExAC.Info.AN=126612;ExAC.Info.AF=0.888;ExAC.Info.AC_Het=12286;ExAC.Info.AC_Hom=49619;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val176Val/c.528G>A;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.528G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.528G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:63995983">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1160,108,0:107	1|1:0,38:38:99:1333,114,0:107	1|1:0,36:36:99:1177,108,0:107
10	64000878	.	T	G	4914.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1368158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1368158" target="_blank">rs1368158</a>;ExAC.Info.AC=96132;ExAC.Info.AN=126498;ExAC.Info.AF=0.760;ExAC.Info.AC_Het=21334;ExAC.Info.AC_Hom=35764;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.370+23A>C;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.370+23A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.370+23A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64000878">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,32:56:99:938,0,615:90	1|1:0,30:30:90:1166,90,0:90	0|0:65,0:65:99:0,195,2219:90
10	64005711	.	C	T	7150.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3815999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3815999" target="_blank">rs3815999</a>;ExAC.Info.AC=95309;ExAC.Info.AN=126530;ExAC.Info.AF=0.753;ExAC.Info.AC_Het=21866;ExAC.Info.AC_Hom=35827;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.316+47G>A;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.316+47G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.316+47G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64005711">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,24:50:99:639,0,822:127	1|1:0,77:77:99:2695,231,0:127	0|0:70,0:70:99:0,210,2400:127
10	64019037	.	A	ATAAAT	5150.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs10675790;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10675790" target="_blank">rs10675790</a>;ExAC.Info.AC=8444;ExAC.Info.AN=13854;ExAC.Info.AF=0.609;ExAC.Info.AC_Het=1514;ExAC.Info.AC_Hom=1609;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.257+3347_257+3346insATTTA;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insTAAAT;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insTAAAT;snpeff.Amino_Acid_length=609;snpeff.Gene_Name=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373789;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000373789;SAVANT_GENE=RTKN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RTKN2" target="_blank">RTKN2</a>;SAVANT_INFO=-/75.5kb/12/6.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.257+3346_257+3347insATTTA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RTKN2+c.257+3346_257+3347insATTTA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64019037">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,6:21:99:276,0,991:77	1|1:0,45:45:99:2099,141,0:77	0|0:26,0:26:78:0,78,1864:77
10	64136751	.	G	C	30135.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=428;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1873686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1873686" target="_blank">rs1873686</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.743+56G>C;snpeff.Amino_Acid_length=462;snpeff.Gene_Name=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410046;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.744G>C;snpeff.Amino_Acid_length=462;snpeff.Gene_Name=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410046;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.744G>C;snpeff.Amino_Acid_length=462;snpeff.Gene_Name=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410046;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000410046;SAVANT_GENE=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;SAVANT_INFO=+/297.8kb/8/3.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.743+56G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF365+c.743+56G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64136751">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,151:151:99:5145,454,0:127	1|1:0,137:137:99:4725,412,0:127	1|1:0,140:140:99:4775,421,0:127
10	64148125	.	C	A	31214.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3852424;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3852424" target="_blank">rs3852424</a>;ExAC.Info.AC=124506;ExAC.Info.AN=126690;ExAC.Info.AF=0.983;ExAC.Info.AC_Het=1795;ExAC.Info.AC_Hom=61173;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.744-30C>A;snpeff.Amino_Acid_length=462;snpeff.Gene_Name=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410046;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.744C>A;snpeff.Amino_Acid_length=462;snpeff.Gene_Name=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410046;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.744C>A;snpeff.Amino_Acid_length=462;snpeff.Gene_Name=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410046;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000410046;SAVANT_GENE=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;SAVANT_INFO=+/297.8kb/8/3.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.744-30C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF365+c.744-30C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64148125">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:4042,349,0:127	1|1:0,144:144:99:5143,433,0:127	1|1:0,120:120:99:4292,361,0:127
10	64148369	.	A	G	28361.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2893897;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2893897" target="_blank">rs2893897</a>;ExAC.Info.AC=126523;ExAC.Info.AN=126678;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=134;ExAC.Info.AC_Hom=62173;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.924+34A>G;snpeff.Amino_Acid_length=462;snpeff.Gene_Name=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410046;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000410046;SAVANT_GENE=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;SAVANT_INFO=+/297.8kb/8/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.924+34A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF365+c.924+34A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64148369">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:3351,265,0:127	1|1:0,126:126:99:4689,379,0:127	1|1:0,122:122:99:4493,366,0:127
10	64159333	.	G	T	15690.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3758490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758490" target="_blank">rs3758490</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=69220;ExAC.Info.AN=126704;ExAC.Info.AF=0.546;ExAC.Info.AC_Het=28882;ExAC.Info.AC_Hom=20165;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.924+10998G>T;snpeff.Amino_Acid_length=462;snpeff.Gene_Name=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410046;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000410046;SAVANT_GENE=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;SAVANT_INFO=+/297.8kb/8/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.924+10998G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF365+c.924+10998G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64159333">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,54:98:99:1461,0,1221:127	0|1:76,57:133:99:1550,0,2244:127	1|1:2,125:127:99:4099,362,0:127
10	64415184	.	A	G	33454.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7076156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7076156" target="_blank">rs7076156</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Uric_acid_nephrolithiasis|_association_with;hgmd_2014.2.OMIM_ID=607818;hgmd_2014.2.PubMed=12740763;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12740763" target="_blank">12740763</a>;ExAC.Info.AC=100494;ExAC.Info.AN=126704;ExAC.Info.AF=0.793;ExAC.Info.AC_Het=19708;ExAC.Info.AC_Hom=40378;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1130-972A>G;snpeff.Amino_Acid_length=462;snpeff.Gene_Name=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410046;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000410046;SAVANT_GENE=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;SAVANT_INFO=+/297.8kb/8/3.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1130-972A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF365+c.1130-972A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64415184">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,128:129:99:4224,356,0:127	1|1:0,161:161:99:5505,483,0:127	1|1:0,131:131:99:4519,393,0:127
10	64415413	.	T	A	67915.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=939;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7094595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7094595" target="_blank">rs7094595</a>;ExAC.Info.AC=43930;ExAC.Info.AN=126688;ExAC.Info.AF=0.347;ExAC.Info.AC_Het=26683;ExAC.Info.AC_Hom=8455;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1130-743T>A;snpeff.Amino_Acid_length=462;snpeff.Gene_Name=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410046;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000410046;SAVANT_GENE=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;SAVANT_INFO=+/297.8kb/8/3.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1130-743T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF365+c.1130-743T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64415413">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,287:287:99:9154,861,0:127	1|1:0,375:375:99:12585,1126,0:127	1|1:0,277:277:99:9477,832,0:127
10	64416290	.	A	G	6801.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs12776269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12776269" target="_blank">rs12776269</a>;ExAC.Info.AC=13299;ExAC.Info.AN=126694;ExAC.Info.AF=0.105;ExAC.Info.AC_Het=11366;ExAC.Info.AC_Hom=924;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1220+44A>G;snpeff.Amino_Acid_length=462;snpeff.Gene_Name=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410046;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000410046;SAVANT_GENE=ZNF365;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF365" target="_blank">ZNF365</a>;SAVANT_INFO=+/297.8kb/8/3.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1220+44A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF365+c.1220+44A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64416290">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,39:68:99:1112,0,904:127	0|0:77,0:77:99:0,231,2734:127	1|1:0,57:57:99:2081,171,0:127
10	64564892	.	G	T	1474.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2236295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236295" target="_blank">rs2236295</a>;ExAC.Info.AC=36058;ExAC.Info.AN=121108;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=18660;ExAC.Info.AC_Hom=5026;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.159+597C>A;snpeff.Gene_Name=RP11-436D10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-436D103" target="_blank">RP11-436D103</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425290;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0162.1:Egr1];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Tgg;snpeff.Amino_Acid_Change=p.Gly25Trp/c.73G>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=ADO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-436D103" target="_blank">RP11-436D103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373783;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373783;SAVANT_GENE=ADO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADO" target="_blank">ADO</a>;SAVANT_INFO=+/3.7kb/1/3.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.73G>T_p.Gly25Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADO+c.73G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64564892">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,798:71	0|1:22,23:45:99:756,0,552:71	0|0:38,0:38:99:0,114,1244:71
10	64564934	.	C	G	2025.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10995311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10995311" target="_blank">rs10995311</a>;ExAC.Info.AC=42892;ExAC.Info.AN=123912;ExAC.Info.AF=0.346;ExAC.Info.AC_Het=23301;ExAC.Info.AC_Hom=7727;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.159+555G>C;snpeff.Gene_Name=RP11-436D10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-436D103" target="_blank">RP11-436D103</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425290;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccg/Gcg;snpeff.Amino_Acid_Change=p.Pro39Ala/c.115C>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=ADO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-436D103" target="_blank">RP11-436D103</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373783;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373783;SAVANT_GENE=ADO;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADO" target="_blank">ADO</a>;SAVANT_INFO=+/3.7kb/1/3.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.115C>G_p.Pro39Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADO+c.115C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64564934">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1256:110	0|1:33,34:67:99:1029,0,879:110	0|0:45,0:45:99:0,135,1569:110
10	64573771	.	C	T	18764.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Neuropathy|_congenital_hypomyelinating|_1|_605253_(3)|_Charcot-Marie-Tooth_disease|_type_1D|_607678_(3)|_Dejerine-Sottas_disease|_145900_(3);dbSNP139.ID=rs224083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=224083" target="_blank">rs224083</a>;ExAC.Info.AC=126113;ExAC.Info.AN=126702;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=563;ExAC.Info.AC_Hom=62774;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro209Pro/c.627G>A;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=EGR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EGR2" target="_blank">EGR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439032;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000242480;SAVANT_GENE=EGR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EGR2" target="_blank">EGR2</a>;SAVANT_INFO=-/4.4kb/2/3.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.627G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EGR2+c.627G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64573771">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2183,195,0:127	1|1:0,81:81:99:2754,243,0:127	1|1:0,73:73:99:2501,219,0:127
10	64914016	.	T	TA	8814.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=334;MQ=68.83;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35751397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35751397" target="_blank">rs35751397</a>;ExAC.Info.AC=53170;ExAC.Info.AN=122060;ExAC.Info.AF=0.436;ExAC.Info.AC_Het=26253;ExAC.Info.AC_Hom=11132;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39;snpeff.Amino_Acid_Change=c.*39_*40insA;snpeff.Amino_Acid_length=287;snpeff.Gene_Name=NRBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRBF2" target="_blank">NRBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277746;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000277746;SAVANT_GENE=NRBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRBF2" target="_blank">NRBF2</a>;SAVANT_INFO=+/21.7kb/4/1.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*39dupA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRBF2+c.*39dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64914016">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,62:109:99:1986,0,1448:127	1|0:54,63:117:99:2001,0,1652:127	0|0:108,0:108:99:0,325,4059:127
10	64927823	.	C	G	7974.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1935" target="_blank">rs1935</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=55888;ExAC.Info.AN=125156;ExAC.Info.AF=0.447;ExAC.Info.AC_Het=29596;ExAC.Info.AC_Hom=13132;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu2535Asp/c.7605G>C;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.7605G>C_p.Glu2535Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.7605G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64927823">View</a>	GT:AD:DP:GQ:PL:TP	0|1:73,53:126:99:1414,0,2176:127	1|0:65,67:132:99:2037,0,1797:127	0|0:139,0:139:99:0,418,4810:127
10	64937415	.	C	T	1854.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2306263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306263" target="_blank">rs2306263</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7224+62G>A;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7225C>T;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7225C>T;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7225C>T;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7225C>T;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7225C>T;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7225C>T;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7225C>T;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7225C>T;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.7224+62G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.7224+62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64937415">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,181,2330:127	0|0:66,0:66:99:0,199,2500:127	0|1:32,31:63:99:946,0,994:127
10	64944317	.	T	A	24068.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=406;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10740107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740107" target="_blank">rs10740107</a>;ExAC.Info.AC=98536;ExAC.Info.AN=125018;ExAC.Info.AF=0.788;ExAC.Info.AC_Het=18790;ExAC.Info.AC_Hom=38678;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6961+51A>T;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6962T>A;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6962T>A;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6962T>A;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6962T>A;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6962T>A;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6962T>A;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.6961+51A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.6961+51A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64944317">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:4202,379,0:127	1|0:76,83:159:99:2433,0,2161:127	1|1:0,121:121:99:4304,364,0:127
10	64945364	.	G	A	43101.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=974;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3211105;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3211105" target="_blank">rs3211105</a>;ExAC.Info.AC=90290;ExAC.Info.AN=125112;ExAC.Info.AF=0.722;ExAC.Info.AC_Het=22624;ExAC.Info.AC_Hom=33820;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6789G>A;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp2263Asp/c.6789C>T;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.6789C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.6789C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64945364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,278:279:99:9428,808,0:127	1|0:164,194:358:99:5376,0,4768:127	1|0:167,170:337:99:4863,0,4695:127
10	64967445	.	A	T	61111.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=764;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1904294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1904294" target="_blank">rs1904294</a>;ExAC.Info.AC=124568;ExAC.Info.AN=125136;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=548;ExAC.Info.AC_Hom=61949;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgA;snpeff.Amino_Acid_Change=p.Arg1328Arg/c.3984T>A;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.3984T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.3984T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64967445">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,237:237:99:8060,712,0:127	1|1:0,265:265:99:9555,796,0:127	1|1:0,262:262:99:9381,787,0:127
10	64974156	.	T	C	3208.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=381;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41274072;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41274072" target="_blank">rs41274072</a>;ExAC.Info.AC=3968;ExAC.Info.AN=125186;ExAC.Info.AF=0.032;ExAC.Info.AC_Het=3684;ExAC.Info.AC_Hom=141;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met591Val/c.1771A>G;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1771A>G_p.Met591Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.1771A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64974156">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,355,3967:127	0|0:141,0:141:99:0,424,5049:127	0|1:64,58:122:99:1623,0,1922:127
10	64974537	.	A	T	14985.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10761725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10761725" target="_blank">rs10761725</a>;ExAC.Info.AC=84418;ExAC.Info.AN=125148;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=23553;ExAC.Info.AC_Hom=30402;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcg/Acg;snpeff.Amino_Acid_Change=p.Ser464Thr/c.1390T>A;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1390T>A_p.Ser464Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.1390T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:64974537">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3195,292,0:127	1|0:64,57:121:99:1603,0,1824:127	1|0:55,64:119:99:1814,0,1640:127
10	65139945	.	T	C	5965.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=74;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7477425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7477425" target="_blank">rs7477425</a>;ExAC.Info.AC=121063;ExAC.Info.AN=121728;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=332;ExAC.Info.AC_Hom=34661;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.333+133A>G;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.333+133A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.333+133A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:65139945">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:936,69,0:65	1|1:0,29:29:87:1079,87,0:65	1|1:0,22:22:66:873,66,0:65
10	65142515	.	T	C	5806.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=734;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72835392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72835392" target="_blank">rs72835392</a>;ExAC.Info.AC=170;ExAC.Info.AN=17974;ExAC.Info.AF=9.458e-03;ExAC.Info.AC_Het=113;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.169-2273A>G;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.169-2273A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.169-2273A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:65142515">View</a>	GT:AD:DP:GQ:PL:TP	0|0:224,2:226:99:0,630,7599:127	0|0:306,0:306:99:0,919,10543:127	0|1:99,103:202:99:2922,0,2851:127
10	65225244	.	G	C	18899.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1061259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061259" target="_blank">rs1061259</a>;ExAC.Info.AC=89212;ExAC.Info.AN=123796;ExAC.Info.AF=0.721;ExAC.Info.AC_Het=18636;ExAC.Info.AC_Hom=28193;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.256G>C;snpeff.Gene_Name=JMJD1C-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C-AS1" target="_blank">JMJD1C-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609436;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+11C>G;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C-AS1" target="_blank">JMJD1C-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.168+11C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.168+11C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:65225244">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3112,291,0:127	1|0:45,65:110:99:1867,0,1224:127	1|0:42,47:89:99:1255,0,1217:127
10	65225245	.	A	G	33864.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10761770;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10761770" target="_blank">rs10761770</a>;ExAC.Info.AC=122063;ExAC.Info.AN=123708;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1071;ExAC.Info.AC_Hom=51475;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.257A>G;snpeff.Gene_Name=JMJD1C-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C-AS1" target="_blank">JMJD1C-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609436;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+10T>C;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C-AS1" target="_blank">JMJD1C-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.168+10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.168+10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:65225245">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:4376,295,0:127	1|1:0,110:110:99:4422,330,0:127	1|1:0,90:90:99:3606,270,0:127
10	65225450	.	C	T	8074.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1054693;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1054693" target="_blank">rs1054693</a>;ExAC.Info.AC=27883;ExAC.Info.AN=125844;ExAC.Info.AF=0.222;ExAC.Info.AC_Het=19669;ExAC.Info.AC_Hom=3423;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.462C>T;snpeff.Gene_Name=JMJD1C-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C-AS1" target="_blank">JMJD1C-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609436;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=28;snpeff.Amino_Acid_Change=c.-28G>A;snpeff.Amino_Acid_length=2540;snpeff.Gene_Name=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C-AS1" target="_blank">JMJD1C-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399262;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399262;SAVANT_GENE=JMJD1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JMJD1C" target="_blank">JMJD1C</a>;SAVANT_INFO=-/298.7kb/26/8.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-28G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JMJD1C+c.-28G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:65225450">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,63:117:99:1691,0,1566:127	0|0:124,0:124:99:0,373,4573:127	1|0:45,54:99:99:1517,0,1224:127
10	65322381	.	G	T	4195.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=498;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4746201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4746201" target="_blank">rs4746201</a>;ExAC.Info.AC=2768;ExAC.Info.AN=19714;ExAC.Info.AF=0.140;ExAC.Info.AC_Het=2107;ExAC.Info.AC_Hom=263;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.33-3717G>T;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=REEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REEP3" target="_blank">REEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373758;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373758;SAVANT_GENE=REEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REEP3" target="_blank">REEP3</a>;SAVANT_INFO=+/103.8kb/8/5.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.33-3717G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=REEP3+c.33-3717G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:65322381">View</a>	GT:AD:DP:GQ:PL:TP	0|0:167,0:167:99:0,502,5757:127	0|1:101,82:183:99:2115,0,2840:127	0|0:148,0:148:99:0,445,5048:127
10	65383531	.	G	A	368.81	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=28;MQ=69.53;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2902;snpeff.Amino_Acid_Change=c.*2902G>A;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=REEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REEP3" target="_blank">REEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373758;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373758;SAVANT_GENE=REEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REEP3" target="_blank">REEP3</a>;SAVANT_INFO=+/103.8kb/8/5.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2902G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=REEP3+c.*2902G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:65383531">View</a>	GT:AD:DP:GQ:PL:TP	0|0:6,0:6:17:0,17,294:17	0|0:16,0:16:48:0,48,720:17	0|1:2,4:6:83:203,0,83:17
10	65383533	.	G	A	370.81	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=29;MQ=69.55;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2904;snpeff.Amino_Acid_Change=c.*2904G>A;snpeff.Amino_Acid_length=255;snpeff.Gene_Name=REEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REEP3" target="_blank">REEP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373758;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373758;SAVANT_GENE=REEP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=REEP3" target="_blank">REEP3</a>;SAVANT_INFO=+/103.8kb/8/5.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2904G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=REEP3+c.*2904G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:65383533">View</a>	GT:AD:DP:GQ:PL:TP	0|0:6,0:6:17:0,17,294:17	0|0:16,0:16:48:0,48,720:17	0|1:2,5:7:83:204,0,83:17
10	65928826	.	T	C	35696.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=443;MQ=69.20;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10740151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740151" target="_blank">rs10740151</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1786A>G;snpeff.Gene_Name=DBF4P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBF4P1" target="_blank">DBF4P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000412976;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DBF4P1" target="_blank">DBF4P1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DBF4P1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:65928826">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,130:130:99:4495,391,0:127	1|1:0,170:170:99:5855,510,0:127	1|1:0,143:143:99:5122,430,0:127
10	65941424	.	C	T	24781.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4745841;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4745841" target="_blank">rs4745841</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4745841" target="_blank">rs4745841</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:65941424">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4245,388,0:127	1|1:0,129:129:99:4351,388,0:127	1|1:0,117:117:99:4103,352,0:127
10	67726514	.	A	C	13640.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=604;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2105702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2105702" target="_blank">rs2105702</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=43313;ExAC.Info.AN=126650;ExAC.Info.AF=0.342;ExAC.Info.AC_Het=27774;ExAC.Info.AC_Hom=7681;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2266-10T>G;snpeff.Amino_Acid_length=895;snpeff.Gene_Name=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373744;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433211;SAVANT_GENE=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;SAVANT_INFO=-/1776.2kb/18/3.2kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2266-10T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTNNA3+c.2266-10T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:67726514">View</a>	GT:AD:DP:GQ:PL:TP	0|0:199,0:199:99:0,598,6670:127	0|1:106,96:202:99:2939,0,2896:127	0|1:81,122:203:99:3901,0,2199:127
10	68040240	.	G	T	4396.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=399;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10997034;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10997034" target="_blank">rs10997034</a>;ExAC.Info.AC=4733;ExAC.Info.AN=126694;ExAC.Info.AF=0.037;ExAC.Info.AC_Het=4350;ExAC.Info.AC_Hom=190;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtA;snpeff.Amino_Acid_Change=p.Val624Val/c.1872C>A;snpeff.Amino_Acid_length=895;snpeff.Gene_Name=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373744;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433211;SAVANT_GENE=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;SAVANT_INFO=-/1776.2kb/18/3.2kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1872C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTNNA3+c.1872C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:68040240">View</a>	GT:AD:DP:GQ:PL:TP	0|0:130,0:130:99:0,391,4822:127	0|1:79,79:158:99:2217,0,2555:127	0|0:111,0:111:99:0,333,4236:127
10	68040325	.	C	T	6912.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=837;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4548513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4548513" target="_blank">rs4548513</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Alzheimer_disease|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=607667;hgmd_2014.2.PubMed=17209133;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17209133" target="_blank">17209133</a>;ExAC.Info.AC=52097;ExAC.Info.AN=126670;ExAC.Info.AF=0.411;ExAC.Info.AC_Het=29650;ExAC.Info.AC_Hom=11184;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser596Asn/c.1787G>A;snpeff.Amino_Acid_length=895;snpeff.Gene_Name=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373744;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433211;SAVANT_GENE=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;SAVANT_INFO=-/1776.2kb/18/3.2kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1787G>A_p.Ser596Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTNNA3+c.1787G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:68040325">View</a>	GT:AD:DP:GQ:PL:TP	0|0:268,0:268:99:0,805,9291:127	0|1:195,142:337:99:3475,0,5729:127	0|0:232,0:232:99:0,696,7890:127
10	68088508	.	C	G	27115.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10762058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10762058" target="_blank">rs10762058</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1733-48129G>C;snpeff.Amino_Acid_length=895;snpeff.Gene_Name=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373744;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433211;SAVANT_GENE=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;SAVANT_INFO=-/1776.2kb/18/3.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1733-48129G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTNNA3+c.1733-48129G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:68088508">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,138:139:99:4805,380,0:127	1|0:81,64:145:99:1861,0,2390:127	1|1:0,150:150:99:5130,451,0:127
10	68088606	.	C	A	14670.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10762059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10762059" target="_blank">rs10762059</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1733-48227G>T;snpeff.Amino_Acid_length=895;snpeff.Gene_Name=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373744;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433211;SAVANT_GENE=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;SAVANT_INFO=-/1776.2kb/18/3.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1733-48227G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTNNA3+c.1733-48227G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:68088606">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2797,252,0:127	1|0:50,46:96:99:1320,0,1556:127	1|1:0,82:82:99:2720,246,0:127
10	68139039	.	G	A	17582.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=928;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41274090;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41274090" target="_blank">rs41274090</a>;ExAC.Info.AC=1480;ExAC.Info.AN=126704;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1440;ExAC.Info.AC_Hom=20;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg535Cys/c.1603C>T;snpeff.Amino_Acid_length=895;snpeff.Gene_Name=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373744;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433211;SAVANT_GENE=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;SAVANT_INFO=-/1776.2kb/18/3.2kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1603C>T_p.Arg535Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTNNA3+c.1603C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:68139039">View</a>	GT:AD:DP:GQ:PL:TP	1|0:157,136:293:99:3778,0,4403:127	0|0:364,0:364:99:0,1093,12301:127	1|0:135,136:271:99:3875,0,3882:127
10	68685929	.	G	C	24538.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7902006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7902006" target="_blank">rs7902006</a>;ExAC.Info.AC=17090;ExAC.Info.AN=19244;ExAC.Info.AF=0.888;ExAC.Info.AC_Het=950;ExAC.Info.AC_Hom=5883;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048-150647C>G;snpeff.Amino_Acid_length=895;snpeff.Gene_Name=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373744;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=413;snpeff.Amino_Acid_Change=c.-413G>C;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=LRRTM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361320;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048G>C;snpeff.Amino_Acid_length=895;snpeff.Gene_Name=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373744;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048G>C;snpeff.Amino_Acid_length=895;snpeff.Gene_Name=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373744;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1048G>C;snpeff.Amino_Acid_length=895;snpeff.Gene_Name=CTNNA3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3" target="_blank">CTNNA3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373744;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433211:ENST00000373722;SAVANT_GENE=CTNNA3:LRRTM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNNA3:LRRTM3" target="_blank">CTNNA3:LRRTM3</a>;SAVANT_INFO=-/1776.2kb/18/3.2kb:+/173.8kb/4/3.5kb;SAVANT_LOC=In7/8:5UTR;SAVANT_HGVS=c.1048-150647C>G:c.-413G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTNNA3:LRRTM3+c.1048-150647C>G:c.-413G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:68685929">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:3147,250,0:127	1|1:0,113:113:99:4284,340,0:127	1|1:0,76:76:99:2882,229,0:127
10	69647332	.	G	T	29042.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs932657;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=932657" target="_blank">rs932657</a>;ExAC.Info.AC=126334;ExAC.Info.AN=126680;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=336;ExAC.Info.AC_Hom=62418;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.547+41G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CCAR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CCAR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CCAR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CCAR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CCAR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CCAR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CCAR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CCAR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HIST1H1E];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HIST1H1E];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HIST1H1E];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HIST1H1E];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548G>T;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000212015;SAVANT_GENE=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;SAVANT_INFO=+/33.7kb/9/4.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.547+41G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIRT1+c.547+41G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69647332">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:4258,358,0:127	1|1:0,126:126:99:4712,379,0:127	1|1:0,117:117:99:4336,352,0:127
10	69676547	.	C	CT	4131.82	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs61666042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61666042" target="_blank">rs61666042</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=198;snpeff.Amino_Acid_Change=c.*198_*199insT;snpeff.Amino_Acid_length=747;snpeff.Gene_Name=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000212015;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000212015;SAVANT_GENE=SIRT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT1" target="_blank">SIRT1</a>;SAVANT_INFO=+/33.7kb/9/4.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*209dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIRT1+c.*209dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69676547">View</a>	GT:AD:DP:GQ:PL:TP	1|0:3,18:21:99:538,0,100:11	0|1:5,24:29:51:794,0,51:11	1|1:4,24:28:11:774,11,0:11
10	69902919	.	T	C	5256.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbSNP139.ID=rs28429181;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28429181" target="_blank">rs28429181</a>;ExAC.Info.AC=7056;ExAC.Info.AN=126304;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=5555;ExAC.Info.AC_Hom=623;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1078+47T>C;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1078+47T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.1078+47T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69902919">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4518:127	0|0:140,0:140:99:0,419,4965:127	0|1:58,76:134:99:2647,0,1623:127
10	69925596	.	G	C	13273.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=570;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbSNP139.ID=rs41278498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41278498" target="_blank">rs41278498</a>;ExAC.Info.AC=937;ExAC.Info.AN=126678;ExAC.Info.AF=7.397e-03;ExAC.Info.AC_Het=919;ExAC.Info.AC_Hom=9;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1600+21G>C;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1600+21G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.1600+21G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69925596">View</a>	GT:AD:DP:GQ:PL:TP	0|1:90,73:163:99:2022,0,2695:127	1|0:121,90:211:99:2592,0,3468:127	0|0:196,0:196:99:0,588,7114:127
10	69926097	.	T	C	27629.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=651;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbSNP139.ID=rs2673794;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2673794" target="_blank">rs2673794</a>;ExAC.Info.AC=78938;ExAC.Info.AN=126704;ExAC.Info.AF=0.623;ExAC.Info.AC_Het=27095;ExAC.Info.AC_Hom=25917;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000024488;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser549Ser/c.1647T>C;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1647T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.1647T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69926097">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024488" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:106,110:216:99:3047,0,2843:127	0|1:143,108:251:99:3012,0,3919:127	1|1:0,184:184:99:6621,553,0:127
10	69926334	.	C	G	15561.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10823148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10823148" target="_blank">rs10823148</a>;ExAC.Info.AC=55612;ExAC.Info.AN=126700;ExAC.Info.AF=0.439;ExAC.Info.AC_Het=29099;ExAC.Info.AC_Hom=13233;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttC/ttG;snpeff.Amino_Acid_Change=p.Phe628Leu/c.1884C>G;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1884C>G_p.Phe628Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.1884C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69926334">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,47:98:99:1412,0,1531:127	0|1:85,51:136:99:1592,0,2554:127	1|1:0,101:101:99:3596,303,0:127
10	69933921	.	G	A	45485.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=1087;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10997975;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10997975" target="_blank">rs10997975</a>;ExAC.Info.AC=54701;ExAC.Info.AN=126704;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=29780;ExAC.Info.AC_Hom=12459;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000024490;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser691Asn/c.2072G>A;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2072G>A_p.Ser691Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.2072G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69933921">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024490" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:198,145:343:99:3799,0,6201:127	0|1:200,198:398:99:5739,0,6171:127	1|1:0,346:346:99:11912,1039,0:127
10	69933969	.	G	A	41044.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=951;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7916821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7916821" target="_blank">rs7916821</a>;ExAC.Info.AC=54082;ExAC.Info.AN=126704;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=29524;ExAC.Info.AC_Hom=12275;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser707Asn/c.2120G>A;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2120G>A_p.Ser707Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.2120G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69933969">View</a>	GT:AD:DP:GQ:PL:TP	1|0:174,128:302:99:3500,0,5407:127	0|1:177,165:342:99:5042,0,5665:127	1|1:0,307:307:99:10613,922,0:127
10	69934258	.	C	G	43170.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=536;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3814182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814182" target="_blank">rs3814182</a>;ExAC.Info.AC=66080;ExAC.Info.AN=126700;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=30907;ExAC.Info.AC_Hom=17563;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agC/agG;snpeff.Amino_Acid_Change=p.Ser803Arg/c.2409C>G;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2409C>G_p.Ser803Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.2409C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69934258">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,179:179:99:6254,538,0:127	1|1:1,204:205:99:7008,605,0:127	1|1:0,152:152:99:5058,457,0:127
10	69934467	.	A	G	9904.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbSNP139.ID=rs3814183;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814183" target="_blank">rs3814183</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2564+54A>G;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2564+54A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.2564+54A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69934467">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1558,129,0:107	1|1:0,41:41:99:1561,123,0:107	1|1:0,36:36:99:1424,108,0:107
10	69935059	.	A	G	17076.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=408;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbSNP139.ID=rs7097776;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7097776" target="_blank">rs7097776</a>;ExAC.Info.AC=82577;ExAC.Info.AN=126694;ExAC.Info.AF=0.652;ExAC.Info.AC_Het=26532;ExAC.Info.AC_Hom=27855;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2565-21A>G;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2565-21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.2565-21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69935059">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,56:110:99:1509,0,1605:127	0|1:100,88:188:99:2435,0,2933:127	1|1:0,110:110:99:3800,331,0:127
10	69935235	.	T	C	31220.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbSNP139.ID=rs6480306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6480306" target="_blank">rs6480306</a>;ExAC.Info.AC=125936;ExAC.Info.AN=126702;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=734;ExAC.Info.AC_Hom=62581;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2703+17T>C;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2703+17T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.2703+17T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69935235">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3872,325,0:127	1|1:0,134:134:99:5022,402,0:127	1|1:0,119:119:99:4579,357,0:127
10	69948844	.	T	C	25951.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbSNP139.ID=rs10733838;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10733838" target="_blank">rs10733838</a>;ExAC.Info.AC=126152;ExAC.Info.AN=126704;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=526;ExAC.Info.AC_Hom=62763;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val962Val/c.2886T>C;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2886T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.2886T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69948844">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:3297,276,0:127	1|1:0,124:124:99:4568,373,0:127	1|1:0,98:98:99:3767,294,0:127
10	69954290	.	G	A	26564.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=599;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbSNP139.ID=rs7081213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7081213" target="_blank">rs7081213</a>;ExAC.Info.AC=55239;ExAC.Info.AN=126662;ExAC.Info.AF=0.436;ExAC.Info.AC_Het=29731;ExAC.Info.AC_Hom=12232;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3075+21G>A;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.3075+21G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.3075+21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69954290">View</a>	GT:AD:DP:GQ:PL:TP	1|0:84,102:186:99:2920,0,2442:127	0|1:112,114:226:99:3223,0,3507:127	1|1:0,187:187:99:6468,562,0:127
10	69959097	.	G	T	27834.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=668;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbSNP139.ID=rs7079549;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7079549" target="_blank">rs7079549</a>;ExAC.Info.AC=85069;ExAC.Info.AN=126698;ExAC.Info.AF=0.671;ExAC.Info.AC_Het=25169;ExAC.Info.AC_Hom=29290;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3286-28G>T;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.3286-28G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.3286-28G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69959097">View</a>	GT:AD:DP:GQ:PL:TP	1|0:107,93:200:99:2536,0,3333:127	0|1:142,136:278:99:3785,0,4461:127	1|1:0,190:190:99:6436,571,0:127
10	69959242	.	C	A	17349.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7079481;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7079481" target="_blank">rs7079481</a>;ExAC.Info.AC=54897;ExAC.Info.AN=126702;ExAC.Info.AF=0.433;ExAC.Info.AC_Het=29830;ExAC.Info.AC_Hom=12510;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Aca;snpeff.Amino_Acid_Change=p.Pro1135Thr/c.3403C>A;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.3403C>A_p.Pro1135Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.3403C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69959242">View</a>	GT:AD:DP:GQ:PL:TP	1|0:77,50:127:99:1238,0,2320:127	0|1:98,77:175:99:2084,0,2891:127	1|1:0,121:121:99:4177,362,0:127
10	69959345	.	GCTGGGA	G	11193.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbSNP139.ID=rs11279655;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11279655" target="_blank">rs11279655</a>;ExAC.Info.AC=54745;ExAC.Info.AN=126680;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=30510;ExAC.Info.AC_Hom=11644;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3493+14_3493+19delCTGGGA;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3493+15_3493+20del6;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.3493+15_3493+20del6+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69959345">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,27:60:99:1028,0,1280:127	0|1:46,26:72:99:954,0,1853:127	1|1:0,60:60:99:2694,181,0:127
10	69961537	.	CA	C	419.52	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=129;MQ=70.08;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1KK|_615248_(3)|_Cardiomypathy|_familial_hypertrophic|_22|_615248_(3)|_Cardiomyopaty|_familial_restrictive_4|_615248_(3);dbSNP139.ID=rs370818222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=370818222" target="_blank">rs370818222</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3494-48delA;snpeff.Amino_Acid_length=1320;snpeff.Gene_Name=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540630;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000358913;SAVANT_GENE=MYPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYPN" target="_blank">MYPN</a>;SAVANT_INFO=+/102.8kb/20/6.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3494-35delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYPN+c.3494-35delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:69961537">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,8:35:99:105,0,584:21	0|0:51,6:57:30:0,30,1121:21	1|0:31,6:37:1:0,8,688:21
10	70045201	.	C	A	35547.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7909365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7909365" target="_blank">rs7909365</a>;ExAC.Info.AC=125458;ExAC.Info.AN=126668;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=1069;ExAC.Info.AC_Hom=61699;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.692-34G>T;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PBLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBLD" target="_blank">PBLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309049;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358769;SAVANT_GENE=PBLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBLD" target="_blank">PBLD</a>;SAVANT_INFO=-/50.3kb/10/2.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.692-34G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PBLD+c.692-34G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70045201">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4184,376,0:127	1|1:0,167:167:99:5847,502,0:127	1|1:0,138:138:99:4759,414,0:127
10	70051810	.	A	G	18062.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3835100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3835100" target="_blank">rs3835100</a>;ExAC.Info.AC=102148;ExAC.Info.AN=126662;ExAC.Info.AF=0.806;ExAC.Info.AC_Het=19032;ExAC.Info.AC_Hom=41489;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.394-14T>C;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PBLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBLD" target="_blank">PBLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309049;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358769;SAVANT_GENE=PBLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBLD" target="_blank">PBLD</a>;SAVANT_INFO=-/50.3kb/10/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.394-14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PBLD+c.394-14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70051810">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2458,216,0:127	1|1:0,98:98:99:3517,294,0:127	1|1:0,50:50:99:1808,150,0:127
10	70051928	.	A	G	27251.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10823171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10823171" target="_blank">rs10823171</a>;ExAC.Info.AC=97697;ExAC.Info.AN=126702;ExAC.Info.AF=0.771;ExAC.Info.AC_Het=21678;ExAC.Info.AC_Hom=37927;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp117Asp/c.351T>C;snpeff.Amino_Acid_length=288;snpeff.Gene_Name=PBLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBLD" target="_blank">PBLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309049;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358769;SAVANT_GENE=PBLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PBLD" target="_blank">PBLD</a>;SAVANT_INFO=-/50.3kb/10/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.351T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PBLD+c.351T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70051928">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3375,300,0:127	1|1:0,151:151:99:5178,454,0:127	1|1:0,78:78:99:2704,234,0:127
10	70101417	.	G	C	9149.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=460;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16925347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16925347" target="_blank">rs16925347</a>;ExAC.Info.AC=9917;ExAC.Info.AN=126704;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8898;ExAC.Info.AC_Hom=506;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.851G>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=HNRNPH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265866;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.851G>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=HNRNPH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265866;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.851G>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=HNRNPH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265866;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.851G>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=HNRNPH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265866;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.851G>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=HNRNPH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265866;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.851G>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=HNRNPH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265866;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.851G>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=HNRNPH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265866;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gCc;snpeff.Amino_Acid_Change=p.Gly284Ala/c.851G>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=HNRNPH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265866;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265866;SAVANT_GENE=HNRNPH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HNRNPH3" target="_blank">HNRNPH3</a>;SAVANT_INFO=+/11.1kb/10/2.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.851G>C_p.Gly284Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HNRNPH3+c.851G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70101417">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,60:138:99:1632,0,2087:127	1|0:85,81:166:99:2193,0,2397:127	0|0:156,0:156:99:0,468,5348:127
10	70105560	.	G	A	52979.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=694;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1162753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1162753" target="_blank">rs1162753</a>;ExAC.Info.AC=102112;ExAC.Info.AN=125208;ExAC.Info.AF=0.816;ExAC.Info.AC_Het=18284;ExAC.Info.AC_Hom=41867;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1891G>A;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1891G>A;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu631Leu/c.1891C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388768;SAVANT_GENE=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;SAVANT_INFO=-/63.7kb/18/4.5kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.1891C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RUFY2+c.1891C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70105560">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,230:230:99:7709,691,0:127	1|1:0,255:255:99:8784,766,0:127	1|1:0,209:209:99:7146,628,0:127
10	70143774	.	C	T	17603.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7899885;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7899885" target="_blank">rs7899885</a>;ExAC.Info.AC=93385;ExAC.Info.AN=125070;ExAC.Info.AF=0.747;ExAC.Info.AC_Het=22088;ExAC.Info.AC_Hom=35509;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.927+34G>A;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>T;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388768;SAVANT_GENE=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;SAVANT_INFO=-/63.7kb/18/4.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.927+34G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RUFY2+c.927+34G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70143774">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2425,210,0:127	1|1:0,91:91:99:3174,273,0:127	1|1:0,71:71:99:2411,213,0:127
10	70166913	.	T	G	3900.95	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=42;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs59831114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59831114" target="_blank">rs59831114</a>;ExAC.Info.AC=24652;ExAC.Info.AN=26726;ExAC.Info.AF=0.922;ExAC.Info.AC_Het=349;ExAC.Info.AC_Hom=4846;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=294;snpeff.Amino_Acid_Change=c.-294A>C;snpeff.Amino_Acid_length=641;snpeff.Gene_Name=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000388768;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388768;SAVANT_GENE=RUFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RUFY2" target="_blank">RUFY2</a>;SAVANT_INFO=-/63.7kb/18/4.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-294A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RUFY2+c.-294A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70166913">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,5:5:15:166,15,0:52	1|1:0,19:19:57:624,57,0:52	1|1:0,18:18:54:518,54,0:52
10	70174707	.	T	A	5464.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions|_autosomal_dominant|_6|_615156_(3);dbSNP139.ID=rs1801041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801041" target="_blank">rs1801041</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=89;snpeff.Amino_Acid_Change=c.*89A>T;snpeff.Amino_Acid_length=1146;snpeff.Gene_Name=DNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNA2" target="_blank">DNA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399180;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399180;SAVANT_GENE=DNA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNA2" target="_blank">DNA2</a>;SAVANT_INFO=-/58.1kb/21/4.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*89A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNA2+c.*89A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70174707">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1219,105,0:104	1|0:19,22:41:99:681,0,497:104	1|0:19,21:40:99:549,0,532:104
10	70332066	.	C	T	40303.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=911;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3814177;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814177" target="_blank">rs3814177</a>;ExAC.Info.AC=64833;ExAC.Info.AN=126194;ExAC.Info.AF=0.514;ExAC.Info.AC_Het=27428;ExAC.Info.AC_Hom=15213;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=30;snpeff.Amino_Acid_Change=c.-30C>T;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373644;SAVANT_GENE=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;SAVANT_INFO=+/133.8kb/12/9.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-30C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TET1+c.-30C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70332066">View</a>	GT:AD:DP:GQ:PL:TP	0|1:164,121:285:99:3303,0,4649:127	1|1:0,345:345:99:11907,1036,0:127	0|1:146,135:281:99:3909,0,4365:127
10	70332580	.	A	G	4953.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=642;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10823229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10823229" target="_blank">rs10823229</a>;ExAC.Info.AC=41695;ExAC.Info.AN=126700;ExAC.Info.AF=0.329;ExAC.Info.AC_Het=26426;ExAC.Info.AC_Hom=7618;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp162Gly/c.485A>G;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373644;SAVANT_GENE=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;SAVANT_INFO=+/133.8kb/12/9.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.485A>G_p.Asp162Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TET1+c.485A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70332580">View</a>	GT:AD:DP:GQ:PL:TP	0|0:218,1:219:99:0,621,6895:127	0|1:125,85:210:99:2495,0,3654:127	0|0:213,0:213:99:0,640,7160:127
10	70332672	.	T	A	14943.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12773594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12773594" target="_blank">rs12773594</a>;ExAC.Info.AC=22672;ExAC.Info.AN=126704;ExAC.Info.AF=0.179;ExAC.Info.AC_Het=18223;ExAC.Info.AC_Hom=2209;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Acc;snpeff.Amino_Acid_Change=p.Ser193Thr/c.577T>A;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373644;SAVANT_GENE=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;SAVANT_INFO=+/133.8kb/12/9.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.577T>A_p.Ser193Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TET1+c.577T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70332672">View</a>	GT:AD:DP:GQ:PL:TP	0/1:76,68:144:99:1755,0,2094:127	0/1:71,86:157:99:2410,0,2098:127	0/1:72,73:145:99:2162,0,2022:127
10	70332862	.	C	T	10731.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12221107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12221107" target="_blank">rs12221107</a>;ExAC.Info.AC=14253;ExAC.Info.AN=126704;ExAC.Info.AF=0.112;ExAC.Info.AC_Het=12058;ExAC.Info.AC_Hom=1091;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gTa;snpeff.Amino_Acid_Change=p.Ala256Val/c.767C>T;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373644;SAVANT_GENE=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;SAVANT_INFO=+/133.8kb/12/9.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.767C>T_p.Ala256Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TET1+c.767C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70332862">View</a>	GT:AD:DP:GQ:PL:TP	0|1:88,62:150:99:1549,0,2570:127	1|0:123,100:223:99:2576,0,3633:127	0|0:152,0:152:99:0,457,5404:127
10	70392375	.	G	A	9220.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=193;MQ=68.20;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1747" target="_blank">rs1747</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.248G>A;snpeff.Gene_Name=COX20P1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COX20P1" target="_blank">COX20P1</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000366529;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1969-12080G>A;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COX20P1" target="_blank">COX20P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_binding_to_genomic_CpG_islands];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1969G>A;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COX20P1" target="_blank">COX20P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_binding_to_genomic_CpG_islands];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1969G>A;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COX20P1" target="_blank">COX20P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_binding_to_genomic_CpG_islands];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1969G>A;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COX20P1" target="_blank">COX20P1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373644;SAVANT_GENE=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;SAVANT_INFO=+/133.8kb/12/9.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1969-12080G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TET1+c.1969-12080G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70392375">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,23:55:99:675,0,1003:127	1|1:0,77:77:99:2795,232,0:127	0|1:36,25:61:99:757,0,1148:127
10	70405237	.	G	A	12747.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12241767;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12241767" target="_blank">rs12241767</a>;ExAC.Info.AC=20198;ExAC.Info.AN=126704;ExAC.Info.AF=0.159;ExAC.Info.AC_Het=16235;ExAC.Info.AC_Hom=1962;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu917Glu/c.2751G>A;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373644;SAVANT_GENE=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;SAVANT_INFO=+/133.8kb/12/9.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.2751G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TET1+c.2751G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70405237">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,60:113:99:1897,0,1616:127	0/1:71,60:131:99:1954,0,2258:127	0/1:49,54:103:99:1634,0,1541:127
10	70405539	.	A	G	20755.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=779;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16925541;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16925541" target="_blank">rs16925541</a>;ExAC.Info.AC=13120;ExAC.Info.AN=126700;ExAC.Info.AF=0.104;ExAC.Info.AC_Het=11297;ExAC.Info.AC_Hom=906;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn1018Ser/c.3053A>G;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373644;SAVANT_GENE=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;SAVANT_INFO=+/133.8kb/12/9.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3053A>G_p.Asn1018Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TET1+c.3053A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70405539">View</a>	GT:AD:DP:GQ:PL:TP	0|1:125,97:222:99:3802,0,7786:127	1|0:149,143:292:99:5559,0,9691:127	0|0:265,0:265:99:0,813,18937:127
10	70405541	.	A	G	20755.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=782;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72799515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72799515" target="_blank">rs72799515</a>;ExAC.Info.AC=2920;ExAC.Info.AN=126702;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2790;ExAC.Info.AC_Hom=62;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Gaa;snpeff.Amino_Acid_Change=p.Lys1019Glu/c.3055A>G;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373644;SAVANT_GENE=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;SAVANT_INFO=+/133.8kb/12/9.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3055A>G_p.Lys1019Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TET1+c.3055A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70405541">View</a>	GT:AD:DP:GQ:PL:TP	0|1:128,100:228:99:3802,0,7786:127	1|0:150,141:291:99:5559,0,9691:127	0|0:263,0:263:99:0,813,18937:127
10	70405855	.	A	G	23693.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=705;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3998860;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3998860" target="_blank">rs3998860</a>;ExAC.Info.AC=98045;ExAC.Info.AN=126696;ExAC.Info.AF=0.774;ExAC.Info.AC_Het=20830;ExAC.Info.AC_Hom=38467;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atA/atG;snpeff.Amino_Acid_Change=p.Ile1123Met/c.3369A>G;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373644;SAVANT_GENE=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;SAVANT_INFO=+/133.8kb/12/9.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3369A>G_p.Ile1123Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TET1+c.3369A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70405855">View</a>	GT:AD:DP:GQ:PL:TP	0/1:118,94:212:99:2921,0,3241:127	0/1:130,136:266:99:4236,0,3785:127	0/1:123,104:227:99:3430,0,3731:127
10	70406518	.	A	T	7703.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1097;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72799516;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72799516" target="_blank">rs72799516</a>;ExAC.Info.AC=3242;ExAC.Info.AN=126704;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=3136;ExAC.Info.AC_Hom=53;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acT;snpeff.Amino_Acid_Change=p.Thr1344Thr/c.4032A>T;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373644;SAVANT_GENE=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;SAVANT_INFO=+/133.8kb/12/9.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.4032A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TET1+c.4032A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70406518">View</a>	GT:AD:DP:GQ:PL:TP	0|0:399,0:399:99:0,1196,12489:127	0|0:374,0:374:99:0,1123,12562:127	0|1:177,147:324:99:3875,0,4762:127
10	70411536	.	G	A	7076.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12243354;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12243354" target="_blank">rs12243354</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4277-67G>A;snpeff.Amino_Acid_length=2136;snpeff.Gene_Name=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373644;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373644;SAVANT_GENE=TET1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TET1" target="_blank">TET1</a>;SAVANT_INFO=+/133.8kb/12/9.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.4277-67G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TET1+c.4277-67G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70411536">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,27:54:99:838,0,903:127	0/1:44,40:84:99:1196,0,1443:127	0/1:36,41:77:99:1248,0,1101:127
10	70502288	.	G	A	31399.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1300253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1300253" target="_blank">rs1300253</a>;ExAC.Info.AC=109762;ExAC.Info.AN=126704;ExAC.Info.AF=0.866;ExAC.Info.AC_Het=14234;ExAC.Info.AC_Hom=47752;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr160Thr/c.480G>A;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265872;SAVANT_GENE=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;SAVANT_INFO=+/71.2kb/25/4.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.480G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCAR1+c.480G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70502288">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4499,412,0:127	1|1:0,163:163:99:5379,489,0:127	1|1:0,111:111:99:3883,334,0:127
10	70508874	.	T	C	13483.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs34521154;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34521154" target="_blank">rs34521154</a>;ExAC.Info.AC=16779;ExAC.Info.AN=126704;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=14290;ExAC.Info.AC_Hom=1238;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.827-19T>C;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265872;SAVANT_GENE=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;SAVANT_INFO=+/71.2kb/25/4.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.827-19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCAR1+c.827-19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70508874">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,62:109:99:1800,0,1257:127	0/1:64,74:138:99:2218,0,1843:127	0/1:45,62:107:99:2000,0,1253:127
10	70531217	.	C	T	7625.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10823258;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10823258" target="_blank">rs10823258</a>;ExAC.Info.AC=86799;ExAC.Info.AN=126566;ExAC.Info.AF=0.686;ExAC.Info.AC_Het=25826;ExAC.Info.AC_Hom=29197;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2538+15C>T;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539C>T;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539C>T;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539C>T;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539C>T;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539C>T;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265872;SAVANT_GENE=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;SAVANT_INFO=+/71.2kb/25/4.7kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2538+15C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCAR1+c.2538+15C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70531217">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,47:106:99:1319,0,1777:127	0/1:59,43:102:99:1240,0,1673:127	0/1:39,31:70:99:965,0,1165:127
10	70534744	.	A	C	6905.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1782323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1782323" target="_blank">rs1782323</a>;ExAC.Info.AC=10640;ExAC.Info.AN=12672;ExAC.Info.AF=0.840;ExAC.Info.AC_Het=1320;ExAC.Info.AC_Hom=4034;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2650+1888A>C;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2651A>C;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2651A>C;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2651A>C;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2651A>C;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2651A>C;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265872;SAVANT_GENE=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;SAVANT_INFO=+/71.2kb/25/4.7kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2650+1888A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCAR1+c.2650+1888A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70534744">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:879,72,0:80	1|1:0,36:36:99:1217,108,0:80	1|1:0,27:27:81:891,81,0:80
10	70546223	.	C	T	2592.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs36124907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36124907" target="_blank">rs36124907</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2734-80C>T;snpeff.Amino_Acid_length=1150;snpeff.Gene_Name=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265872;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265872;SAVANT_GENE=CCAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCAR1" target="_blank">CCAR1</a>;SAVANT_INFO=+/71.2kb/25/4.7kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2734-80C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCAR1+c.2734-80C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70546223">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,9:22:99:262,0,424:127	0/1:15,16:31:99:492,0,388:127	0/1:15,14:29:99:424,0,430:127
10	70641860	.	T	C	40519.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=988;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Preeclampsia/eclampsia_4|_609404_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1341667;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1341667" target="_blank">rs1341667</a>;hgmd_2014.2.CLASS=DM;hgmd_2014.2.PHEN=Preeclampsia;hgmd_2014.2.OMIM_ID=609397;hgmd_2014.2.PubMed=15806103;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15806103" target="_blank">15806103</a>;ExAC.Info.AC=78083;ExAC.Info.AN=125120;ExAC.Info.AF=0.624;ExAC.Info.AC_Het=27755;ExAC.Info.AC_Hom=25155;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000001789;Clinvar.PhenotypeIDs=MedGen:C1836255|OMIM:609404|Orphanet:ORPHA275555;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Cac;snpeff.Amino_Acid_Change=p.Tyr153His/c.457T>C;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=STOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STOX1" target="_blank">STOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399169;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298596;SAVANT_GENE=STOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STOX1" target="_blank">STOX1</a>;SAVANT_INFO=+/65.5kb/4/3.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.457T>C_p.Tyr153His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STOX1+c.457T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70641860">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001789" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	1|0:172,171:343:99:5007,0,4367:127	0|1:188,179:367:99:5160,0,5114:127	1|1:0,278:278:99:9678,835,0:127
10	70645376	.	A	C	17600.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=800;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Preeclampsia/eclampsia_4|_609404_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10509305;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10509305" target="_blank">rs10509305</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Preeclampsia;hgmd_2014.2.OMIM_ID=609397;hgmd_2014.2.PubMed=15806103;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15806103" target="_blank">15806103</a>;ExAC.Info.AC=26604;ExAC.Info.AN=125240;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20255;ExAC.Info.AC_Hom=3170;Clinvar.ClinicalSignificance=Pathogenic;Clinvar.RCVaccession=RCV000001790;Clinvar.PhenotypeIDs=MedGen:C1836255|OMIM:609404|Orphanet:ORPHA275555;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaA/gaC;snpeff.Amino_Acid_Change=p.Glu608Asp/c.1824A>C;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=STOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STOX1" target="_blank">STOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399169;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298596;SAVANT_GENE=STOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STOX1" target="_blank">STOX1</a>;SAVANT_INFO=+/65.5kb/4/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1824A>C_p.Glu608Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STOX1+c.1824A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70645376">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001790" target="_blank">Pathogenic</a> 	GT:AD:DP:GQ:PL:TP	0|1:111,128:239:99:3853,0,3224:127	1|0:143,143:286:99:4248,0,4300:127	0|0:275,0:275:99:0,827,10044:127
10	70645697	.	C	T	20844.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=964;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Preeclampsia/eclampsia_4|_609404_(3);dbSNP139.ID=rs10509306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10509306" target="_blank">rs10509306</a>;ExAC.Info.AC=16350;ExAC.Info.AN=125284;ExAC.Info.AF=0.131;ExAC.Info.AC_Het=13692;ExAC.Info.AC_Hom=1328;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn715Asn/c.2145C>T;snpeff.Amino_Acid_length=989;snpeff.Gene_Name=STOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STOX1" target="_blank">STOX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399169;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298596;SAVANT_GENE=STOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STOX1" target="_blank">STOX1</a>;SAVANT_INFO=+/65.5kb/4/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.2145C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STOX1+c.2145C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70645697">View</a>	GT:AD:DP:GQ:PL:TP	0|1:139,163:302:99:4623,0,3989:127	1|0:179,174:353:99:5217,0,5198:127	0|0:307,2:309:99:0,879,10354:127
10	70696908	.	G	T	9795.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1539166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1539166" target="_blank">rs1539166</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1755+57G>T;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=DDX50;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX50" target="_blank">DDX50</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373585;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373585;SAVANT_GENE=DDX50;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX50" target="_blank">DDX50</a>;SAVANT_INFO=+/45.6kb/15/2.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1755+57G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX50+c.1755+57G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70696908">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:728,69,0:127	1|1:0,45:45:99:1494,135,0:127	1|1:0,45:45:99:1574,138,0:127
10	70700944	.	A	G	10502.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs5030900;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5030900" target="_blank">rs5030900</a>;ExAC.Info.AC=80861;ExAC.Info.AN=126700;ExAC.Info.AF=0.638;ExAC.Info.AC_Het=28023;ExAC.Info.AC_Hom=26342;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly628Gly/c.1884A>G;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=DDX50;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX50" target="_blank">DDX50</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373585;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373585;SAVANT_GENE=DDX50;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX50" target="_blank">DDX50</a>;SAVANT_INFO=+/45.6kb/15/2.5kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1884A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX50+c.1884A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70700944">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,43:72:99:1225,0,652:127	0|1:40,29:69:99:776,0,1188:127	1|1:0,83:83:99:2812,249,0:127
10	70725128	.	A	G	9514.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3898314;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3898314" target="_blank">rs3898314</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=27910;ExAC.Info.AN=126700;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=20001;ExAC.Info.AC_Hom=3936;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.787-5A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354185;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.787A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354185;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.787A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354185;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.787A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354185;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.787A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354185;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.787A>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354185;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354185;SAVANT_GENE=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;SAVANT_INFO=+/28.9kb/15/4.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.787-5A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX21+c.787-5A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70725128">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,55:121:99:1625,0,1841:127	0|0:150,2:152:99:0,407,5102:127	1|0:77,70:147:99:2132,0,2262:127
10	70733266	.	T	G	3007.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs5030899;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5030899" target="_blank">rs5030899</a>;ExAC.Info.AC=27843;ExAC.Info.AN=126696;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=19954;ExAC.Info.AC_Hom=3856;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1549-35T>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354185;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1549T>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354185;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1549T>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354185;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1549T>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354185;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1549T>G;snpeff.Amino_Acid_length=783;snpeff.Gene_Name=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354185;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354185;SAVANT_GENE=DDX21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX21" target="_blank">DDX21</a>;SAVANT_INFO=+/28.9kb/15/4.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1549-35T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDX21+c.1549-35T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70733266">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,19:37:99:576,0,478:125	0|0:42,0:42:99:0,126,1480:125	1|0:26,24:50:99:742,0,709:125
10	70748784	.	G	A	8843.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Goldberg-Shprintzen_megacolon_syndrome|_609460_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2255607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2255607" target="_blank">rs2255607</a>;ExAC.Info.AC=51878;ExAC.Info.AN=126414;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=29094;ExAC.Info.AC_Hom=11066;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000146132;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly66Ser/c.196G>A;snpeff.Amino_Acid_length=621;snpeff.Gene_Name=KIAA1279;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1279" target="_blank">KIAA1279</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361983;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361983;SAVANT_GENE=KIAA1279;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1279" target="_blank">KIAA1279</a>;SAVANT_INFO=+/28.3kb/7/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.196G>A_p.Gly66Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1279+c.196G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70748784">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000146132" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,354,4320:127	0|1:93,86:179:99:2660,0,3044:127	0|1:59,53:112:99:1782,0,1825:127
10	70775959	.	C	T	6718.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=812;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Goldberg-Shprintzen_megacolon_syndrome|_609460_(3);dbSNP139.ID=rs35893997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35893997" target="_blank">rs35893997</a>;ExAC.Info.AC=6256;ExAC.Info.AN=126700;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5807;ExAC.Info.AC_Hom=222;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000146130;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala551Ala/c.1653C>T;snpeff.Amino_Acid_length=621;snpeff.Gene_Name=KIAA1279;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1279" target="_blank">KIAA1279</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361983;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361983;SAVANT_GENE=KIAA1279;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1279" target="_blank">KIAA1279</a>;SAVANT_INFO=+/28.3kb/7/2.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1653C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1279+c.1653C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70775959">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000146130" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:234,0:234:99:0,702,8195:127	0|1:167,118:285:99:3332,0,4988:127	0|0:293,0:293:99:0,880,10154:127
10	70856852	.	G	A	14647.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2229498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229498" target="_blank">rs2229498</a>;ExAC.Info.AC=95356;ExAC.Info.AN=126698;ExAC.Info.AF=0.753;ExAC.Info.AC_Het=20645;ExAC.Info.AC_Hom=37311;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg31Gln/c.92G>A;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=SRGN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGN" target="_blank">SRGN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000242465;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000242465;SAVANT_GENE=SRGN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGN" target="_blank">SRGN</a>;SAVANT_INFO=+/16.7kb/3/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.92G>A_p.Arg31Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGN+c.92G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70856852">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2616,234,0:127	1|1:0,80:80:99:2771,240,0:127	1|0:43,32:75:99:907,0,1203:127
10	70856963	.	C	G	3474.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs67852477;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67852477" target="_blank">rs67852477</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=1258;ExAC.Info.AN=126704;ExAC.Info.AF=9.929e-03;ExAC.Info.AC_Het=1236;ExAC.Info.AC_Hom=11;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cGc;snpeff.Amino_Acid_Change=p.Pro68Arg/c.203C>G;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=SRGN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGN" target="_blank">SRGN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000242465;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000242465;SAVANT_GENE=SRGN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SRGN" target="_blank">SRGN</a>;SAVANT_INFO=+/16.7kb/3/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.203C>G_p.Pro68Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SRGN+c.203C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70856963">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,39:63:99:1101,0,611:127	1|0:45,22:67:99:622,0,1201:127	0|0:71,0:71:99:0,213,2391:127
10	70884013	.	G	A	6756.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs5030909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5030909" target="_blank">rs5030909</a>;ExAC.Info.AC=17487;ExAC.Info.AN=116344;ExAC.Info.AF=0.150;ExAC.Info.AC_Het=7902;ExAC.Info.AC_Hom=1112;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=21;snpeff.Amino_Acid_Change=c.-21G>A;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=VPS26A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS26A" target="_blank">VPS26A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373382;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373382;SAVANT_GENE=VPS26A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS26A" target="_blank">VPS26A</a>;SAVANT_INFO=+/49.4kb/10/3.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-21G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VPS26A+c.-21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70884013">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1274,114,0:114	1|0:22,16:38:99:437,0,664:114	1|0:15,21:36:99:575,0,410:114
10	70892791	.	C	T	8046.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs5030932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5030932" target="_blank">rs5030932</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=24580;ExAC.Info.AN=126700;ExAC.Info.AF=0.194;ExAC.Info.AC_Het=19129;ExAC.Info.AC_Hom=2716;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser47Ser/c.141C>T;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=VPS26A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS26A" target="_blank">VPS26A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373382;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373382;SAVANT_GENE=VPS26A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS26A" target="_blank">VPS26A</a>;SAVANT_INFO=+/49.4kb/10/3.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.141C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VPS26A+c.141C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70892791">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1728,153,0:127	1|0:30,29:59:99:867,0,823:127	1|0:22,31:53:99:929,0,540:127
10	70922159	.	T	C	5549.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs61871361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61871361" target="_blank">rs61871361</a>;ExAC.Info.AC=22353;ExAC.Info.AN=126600;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=17451;ExAC.Info.AC_Hom=2218;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.552-3T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=VPS26A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS26A" target="_blank">VPS26A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373382;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.552T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=VPS26A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS26A" target="_blank">VPS26A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373382;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373382;SAVANT_GENE=VPS26A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS26A" target="_blank">VPS26A</a>;SAVANT_INFO=+/49.4kb/10/3.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.552-3T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VPS26A+c.552-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70922159">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1121,93,0:93	1|0:25,20:45:99:564,0,692:93	1|0:23,24:47:99:731,0,659:93
10	70945840	.	C	T	12859.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs5030910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5030910" target="_blank">rs5030910</a>;ExAC.Info.AC=22791;ExAC.Info.AN=126692;ExAC.Info.AF=0.180;ExAC.Info.AC_Het=17962;ExAC.Info.AC_Hom=2406;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.349+20C>T;snpeff.Amino_Acid_length=786;snpeff.Gene_Name=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359655;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.350C>T;snpeff.Amino_Acid_length=786;snpeff.Gene_Name=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359655;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.350C>T;snpeff.Amino_Acid_length=786;snpeff.Gene_Name=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359655;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359655;SAVANT_GENE=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;SAVANT_INFO=+/28.9kb/15/2.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.349+20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SUPV3L1+c.349+20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70945840">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2763,252,0:127	1|0:57,49:106:99:1271,0,1734:127	1|0:56,41:97:99:1122,0,1682:127
10	70955056	.	A	G	34381.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=709;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs5018859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5018859" target="_blank">rs5018859</a>;ExAC.Info.AC=22763;ExAC.Info.AN=126684;ExAC.Info.AF=0.180;ExAC.Info.AC_Het=17875;ExAC.Info.AC_Hom=2360;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.931+35A>G;snpeff.Amino_Acid_length=786;snpeff.Gene_Name=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359655;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.932A>G;snpeff.Amino_Acid_length=786;snpeff.Gene_Name=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359655;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.932A>G;snpeff.Amino_Acid_length=786;snpeff.Gene_Name=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359655;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.932A>G;snpeff.Amino_Acid_length=786;snpeff.Gene_Name=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359655;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.932A>G;snpeff.Amino_Acid_length=786;snpeff.Gene_Name=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359655;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.932A>G;snpeff.Amino_Acid_length=786;snpeff.Gene_Name=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359655;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_ATP-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.932A>G;snpeff.Amino_Acid_length=786;snpeff.Gene_Name=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359655;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359655;SAVANT_GENE=SUPV3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUPV3L1" target="_blank">SUPV3L1</a>;SAVANT_INFO=+/28.9kb/15/2.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.931+35A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SUPV3L1+c.931+35A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70955056">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,212:212:99:7484,637,0:127	1|0:145,116:261:99:3309,0,4124:127	1|0:116,120:236:99:3241,0,3099:127
10	70992664	.	C	T	21364.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs874556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=874556" target="_blank">rs874556</a>;ExAC.Info.AC=58955;ExAC.Info.AN=126704;ExAC.Info.AF=0.465;ExAC.Info.AC_Het=30072;ExAC.Info.AC_Hom=14378;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCa/aTa;snpeff.Amino_Acid_Change=p.Thr124Ile/c.371C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354624;SAVANT_GENE=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;SAVANT_INFO=+/47.3kb/18/3.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.371C>T_p.Thr124Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HKDC1+c.371C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70992664">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,145:145:99:4663,435,0:127	1|0:68,74:142:99:2162,0,2108:127	1|0:57,65:122:99:1931,0,1665:127
10	70998738	.	G	A	18774.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4145930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4145930" target="_blank">rs4145930</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.496-60G>A;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glucose-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glucose-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.496G>A;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354624;SAVANT_GENE=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;SAVANT_INFO=+/47.3kb/18/3.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.496-60G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HKDC1+c.496-60G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:70998738">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2411,228,0:127	1|1:0,88:88:99:2868,264,0:127	1|1:0,82:82:99:2653,246,0:127
10	71010375	.	C	T	4632.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs5030948;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5030948" target="_blank">rs5030948</a>;ExAC.Info.AC=26705;ExAC.Info.AN=126704;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20134;ExAC.Info.AC_Hom=3275;snpeff.Effect=sequence_feature[region_of_interest:Glucose-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glucose-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1803C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe601Phe/c.1803C>T;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354624;SAVANT_GENE=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;SAVANT_INFO=+/47.3kb/18/3.7kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1803C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HKDC1+c.1803C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71010375">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,34:59:99:972,0,763:127	1|0:34,37:71:99:1081,0,1024:127	0|0:54,0:54:99:0,162,1917:127
10	71018660	.	T	C	8540.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1111335;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1111335" target="_blank">rs1111335</a>;snpeff.Effect=sequence_feature[domain:Hexokinase_type-2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2161T>C;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2161T>C;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2161T>C;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2161T>C;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Hexokinase_type-2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2161T>C;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp721Arg/c.2161T>C;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354624;SAVANT_GENE=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;SAVANT_INFO=+/47.3kb/18/3.7kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2161T>C_p.Trp721Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HKDC1+c.2161T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71018660">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1467,132,0:77	1|1:0,43:43:99:1534,129,0:77	1|1:0,26:26:78:805,78,0:77
10	71026510	.	C	A	6644.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs906219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=906219" target="_blank">rs906219</a>;ExAC.Info.AC=43194;ExAC.Info.AN=126698;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=27141;ExAC.Info.AC_Hom=8014;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.49-1027G>T;snpeff.Gene_Name=RP11-227H15.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-227H155" target="_blank">RP11-227H155</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413220;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaC/aaA;snpeff.Amino_Acid_Change=p.Asn917Lys/c.2751C>A;snpeff.Amino_Acid_length=917;snpeff.Gene_Name=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-227H155" target="_blank">RP11-227H155</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354624;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354624;SAVANT_GENE=HKDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HKDC1" target="_blank">HKDC1</a>;SAVANT_INFO=+/47.3kb/18/3.7kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2751C>A_p.Asn917Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HKDC1+c.2751C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71026510">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,322,3780:127	0|1:52,66:118:99:1981,0,1541:127	0|1:76,47:123:99:1361,0,2328:127
10	71048437	.	C	G	10274.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=982;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hemolytic_anemia_due_to_hexokinase_deficiency|_235700_(3)|_Neuropathy|_hereditary_motor_and_sensory|_Russe_type|_605285_(3);dbSNP139.ID=rs72805669;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72805669" target="_blank">rs72805669</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=63;snpeff.Amino_Acid_Change=c.-63C>G;snpeff.Amino_Acid_length=952;snpeff.Gene_Name=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448642;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=HK1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71048437">View</a>	GT:AD:DP:GQ:PL:TP	0|0:307,0:307:99:0,923,10875:127	0|1:179,167:346:99:5156,0,5357:127	0|0:329,0:329:99:0,988,11508:127
10	71055459	.	T	C	8465.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hemolytic_anemia_due_to_hexokinase_deficiency|_235700_(3)|_Neuropathy|_hereditary_motor_and_sensory|_Russe_type|_605285_(3);dbSNP139.ID=rs4746837;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4746837" target="_blank">rs4746837</a>;ExAC.Info.AC=89735;ExAC.Info.AN=126672;ExAC.Info.AF=0.708;ExAC.Info.AC_Het=24993;ExAC.Info.AC_Hom=31480;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+23T>C;snpeff.Amino_Acid_length=952;snpeff.Gene_Name=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448642;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404387;SAVANT_GENE=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;SAVANT_INFO=+/112.4kb/19/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.75+23T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HK1+c.75+23T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71055459">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,27:46:99:881,0,517:127	0|1:33,31:64:99:876,0,983:127	1|1:0,60:60:99:2147,180,0:127
10	71060610	.	A	G	28220.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=702;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hemolytic_anemia_due_to_hexokinase_deficiency|_235700_(3)|_Neuropathy|_hereditary_motor_and_sensory|_Russe_type|_605285_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs906220;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=906220" target="_blank">rs906220</a>;ExAC.Info.AC=115025;ExAC.Info.AN=126672;ExAC.Info.AF=0.908;ExAC.Info.AC_Het=9949;ExAC.Info.AC_Hom=50859;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+5174A>G;snpeff.Amino_Acid_length=952;snpeff.Gene_Name=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448642;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404387;SAVANT_GENE=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;SAVANT_INFO=+/112.4kb/19/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.75+5174A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HK1+c.75+5174A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71060610">View</a>	GT:AD:DP:GQ:PL:TP	1|0:129,98:227:99:2541,0,3606:127	0|1:158,113:271:99:3155,0,4537:127	1|1:0,204:204:99:7096,613,0:127
10	71060634	.	G	A	24903.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=645;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hemolytic_anemia_due_to_hexokinase_deficiency|_235700_(3)|_Neuropathy|_hereditary_motor_and_sensory|_Russe_type|_605285_(3);dbSNP139.ID=rs906221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=906221" target="_blank">rs906221</a>;ExAC.Info.AC=114229;ExAC.Info.AN=126282;ExAC.Info.AF=0.905;ExAC.Info.AC_Het=8267;ExAC.Info.AC_Hom=41737;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+5198G>A;snpeff.Amino_Acid_length=952;snpeff.Gene_Name=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448642;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404387;SAVANT_GENE=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;SAVANT_INFO=+/112.4kb/19/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.75+5198G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HK1+c.75+5198G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71060634">View</a>	GT:AD:DP:GQ:PL:TP	1|0:120,90:210:99:2310,0,3516:127	0|1:155,105:260:99:2964,0,4556:127	1|1:0,175:175:99:6281,526,0:127
10	71098295	.	T	A	8217.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hemolytic_anemia_due_to_hexokinase_deficiency|_235700_(3)|_Neuropathy|_hereditary_motor_and_sensory|_Russe_type|_605285_(3);dbSNP139.ID=rs7912524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7912524" target="_blank">rs7912524</a>;ExAC.Info.AC=8767;ExAC.Info.AN=19048;ExAC.Info.AF=0.460;ExAC.Info.AC_Het=3342;ExAC.Info.AC_Hom=2015;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.169-5288T>A;snpeff.Amino_Acid_length=952;snpeff.Gene_Name=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448642;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404387;SAVANT_GENE=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;SAVANT_INFO=+/112.4kb/19/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.76-5288T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HK1+c.76-5288T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71098295">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,20:49:99:475,0,800:127	1|1:0,76:76:99:2543,228,0:127	0|1:24,24:48:99:709,0,641:127
10	71103597	.	C	G	4096.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hemolytic_anemia_due_to_hexokinase_deficiency|_235700_(3)|_Neuropathy|_hereditary_motor_and_sensory|_Russe_type|_605285_(3);dbSNP139.ID=rs1133189;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1133189" target="_blank">rs1133189</a>;ExAC.Info.AC=41023;ExAC.Info.AN=126704;ExAC.Info.AF=0.324;ExAC.Info.AC_Het=26467;ExAC.Info.AC_Hom=7278;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctG;snpeff.Amino_Acid_Change=p.Leu61Leu/c.183C>G;snpeff.Amino_Acid_length=952;snpeff.Gene_Name=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448642;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404387;SAVANT_GENE=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;SAVANT_INFO=+/112.4kb/19/2.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.90C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HK1+c.90C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71103597">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,400,4621:127	0|0:175,0:175:99:0,526,6576:127	0|1:56,65:121:99:2067,0,1748:127
10	71128875	.	T	C	3184.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hemolytic_anemia_due_to_hexokinase_deficiency|_235700_(3)|_Neuropathy|_hereditary_motor_and_sensory|_Russe_type|_605285_(3);dbSNP139.ID=rs2305198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2305198" target="_blank">rs2305198</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.697-118T>C;snpeff.Amino_Acid_length=952;snpeff.Gene_Name=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448642;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404387;SAVANT_GENE=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;SAVANT_INFO=+/112.4kb/19/2.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.604-118T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HK1+c.604-118T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71128875">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2637:127	0|1:49,51:100:99:1611,0,1448:127	0|0:94,0:94:99:0,282,3203:127
10	71142420	.	G	A	7322.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hemolytic_anemia_due_to_hexokinase_deficiency|_235700_(3)|_Neuropathy|_hereditary_motor_and_sensory|_Russe_type|_605285_(3);dbSNP139.ID=rs748235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=748235" target="_blank">rs748235</a>;ExAC.Info.AC=99085;ExAC.Info.AN=126704;ExAC.Info.AF=0.782;ExAC.Info.AC_Het=20332;ExAC.Info.AC_Hom=39080;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys516Lys/c.1548G>A;snpeff.Amino_Acid_length=952;snpeff.Gene_Name=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448642;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404387;SAVANT_GENE=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;SAVANT_INFO=+/112.4kb/19/2.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1455G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HK1+c.1455G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71142420">View</a>	GT:AD:DP:GQ:PL:TP	0|0:124,0:124:99:0,373,4342:127	0|1:80,67:147:99:1796,0,2334:127	0|1:59,61:120:99:1885,0,1733:127
10	71144702	.	G	A	4380.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hemolytic_anemia_due_to_hexokinase_deficiency|_235700_(3)|_Neuropathy|_hereditary_motor_and_sensory|_Russe_type|_605285_(3);dbSNP139.ID=rs749105;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=749105" target="_blank">rs749105</a>;ExAC.Info.AC=84917;ExAC.Info.AN=126704;ExAC.Info.AF=0.670;ExAC.Info.AC_Het=27197;ExAC.Info.AC_Hom=28832;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1944+31G>A;snpeff.Amino_Acid_length=952;snpeff.Gene_Name=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448642;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404387;SAVANT_GENE=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;SAVANT_INFO=+/112.4kb/19/2.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1851+31G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HK1+c.1851+31G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71144702">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,4074:127	0|0:145,0:145:99:0,435,5227:127	0|1:44,67:111:99:2209,0,1338:127
10	71152091	.	T	C	5741.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hemolytic_anemia_due_to_hexokinase_deficiency|_235700_(3)|_Neuropathy|_hereditary_motor_and_sensory|_Russe_type|_605285_(3);dbSNP139.ID=rs2278745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2278745" target="_blank">rs2278745</a>;ExAC.Info.AC=69784;ExAC.Info.AN=126704;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=30475;ExAC.Info.AC_Hom=19513;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2324+27T>C;snpeff.Amino_Acid_length=952;snpeff.Gene_Name=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448642;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404387;SAVANT_GENE=HK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1" target="_blank">HK1</a>;SAVANT_INFO=+/112.4kb/19/2.8kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2231+27T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HK1+c.2231+27T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71152091">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,27:49:99:822,0,563:127	0|0:86,0:86:99:0,258,2932:127	1|1:0,52:52:99:1744,155,0:127
10	71164655	.	C	T	3584.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2229170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229170" target="_blank">rs2229170</a>;ExAC.Info.AC=21717;ExAC.Info.AN=126686;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=17530;ExAC.Info.AC_Hom=2028;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373306;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1124C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373306;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg375His/c.1124G>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373306;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373306;SAVANT_GENE=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;SAVANT_INFO=-/12.4kb/5/2.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1124G>A_p.Arg375His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACR2+c.1124G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71164655">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,383,4213:127	0|0:130,0:130:99:0,390,4543:127	0|1:83,71:154:99:1811,0,2263:127
10	71168685	.	A	T	4864.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=47;MQ=70.20;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55953810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55953810" target="_blank">rs55953810</a>;ExAC.Info.AC=123570;ExAC.Info.AN=123598;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=10;ExAC.Info.AC_Hom=44464;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.734A>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373306;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.734A>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373306;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aAg;snpeff.Amino_Acid_Change=p.Met245Lys/c.734T>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373306;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373306;SAVANT_GENE=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;SAVANT_INFO=-/12.4kb/5/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.734T>A_p.Met245Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACR2+c.734T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71168685">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:564,45,0:41	1|1:0,14:14:42:567,42,0:41	1|1:0,18:18:54:698,54,0:41
10	71174636	.	TAC	T	60.1	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs150956058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150956058" target="_blank">rs150956058</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.587+63_587+64delGT;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373306;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588_589delAC;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373306;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588_589delAC;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373306;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000373306;SAVANT_GENE=TACR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACR2" target="_blank">TACR2</a>;SAVANT_INFO=-/12.4kb/5/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.587+63_587+64delGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACR2+c.587+63_587+64delGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71174636">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,3:45:7:0,7,1476:4	0|1:38,4:42:5:5,0,1304:4	0|0:31,2:33:20:0,20,1039:4
10	71244832	.	C	A	1796.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2305201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2305201" target="_blank">rs2305201</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.283-65C>A;snpeff.Amino_Acid_length=294;snpeff.Gene_Name=TSPAN15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN15" target="_blank">TSPAN15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373290;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283C>A;snpeff.Amino_Acid_length=294;snpeff.Gene_Name=TSPAN15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN15" target="_blank">TSPAN15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373290;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.283C>A;snpeff.Amino_Acid_length=294;snpeff.Gene_Name=TSPAN15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN15" target="_blank">TSPAN15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373290;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373290;SAVANT_GENE=TSPAN15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN15" target="_blank">TSPAN15</a>;SAVANT_INFO=+/56.2kb/8/1.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.283-65C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN15+c.283-65C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71244832">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1190:101	0|0:37,0:37:99:0,111,1265:101	0|1:19,31:50:99:917,0,521:101
10	71332204	.	A	G	25560.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Diarrhea_4|_malabsorptive|_congenital|_610370_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4536103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4536103" target="_blank">rs4536103</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes|_type_2|_association_with;hgmd_2014.2.OMIM_ID=604882;hgmd_2014.2.PubMed=17146417;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17146417" target="_blank">17146417</a>;ExAC.Info.AC=64970;ExAC.Info.AN=121664;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=18461;ExAC.Info.AC_Hom=11749;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000117780;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tCt;snpeff.Amino_Acid_Change=p.Phe199Ser/c.596T>C;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=NEUROG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEUROG3" target="_blank">NEUROG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000242462;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000242462;SAVANT_GENE=NEUROG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEUROG3" target="_blank">NEUROG3</a>;SAVANT_INFO=-/1.5kb/2/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.596T>C_p.Phe199Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEUROG3+c.596T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71332204">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000117780" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3746,319,0:127	1|1:0,120:120:99:4217,361,0:127	1|1:0,78:78:99:3030,235,0:127
10	71332842	.	CTG	C	13551.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Diarrhea_4|_malabsorptive|_congenital|_610370_(3);dbSNP139.ID=rs144643855;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144643855" target="_blank">rs144643855</a>;ExAC.Info.AC=31135;ExAC.Info.AN=126152;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=21399;ExAC.Info.AC_Hom=4360;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1-44_-1-43delCA;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=NEUROG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEUROG3" target="_blank">NEUROG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000242462;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000242462;SAVANT_GENE=NEUROG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEUROG3" target="_blank">NEUROG3</a>;SAVANT_INFO=-/1.5kb/2/1.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-45_-44delCA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEUROG3+c.-45_-44delCA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71332842">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2745,184,0:127	1|0:28,19:47:99:714,0,1151:127	1|1:0,46:46:99:2051,139,0:127
10	71390392	.	C	T	10938.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1947741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1947741" target="_blank">rs1947741</a>;ExAC.Info.AC=9008;ExAC.Info.AN=22198;ExAC.Info.AF=0.406;ExAC.Info.AC_Het=4315;ExAC.Info.AC_Hom=1875;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-104+323C>T;snpeff.Amino_Acid_length=121;snpeff.Gene_Name=C10orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf35" target="_blank">C10orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373279;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373279;SAVANT_GENE=C10orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf35" target="_blank">C10orf35</a>;SAVANT_INFO=+/3.3kb/4/1.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-1108C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf35+c.-1108C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71390392">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,46:80:99:1196,0,1290:127	1|1:0,77:77:99:2583,231,0:127	0|1:30,31:61:99:909,0,1242:127
10	71390393	.	A	G	4596.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs977096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=977096" target="_blank">rs977096</a>;ExAC.Info.AC=4262;ExAC.Info.AN=22636;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=2913;ExAC.Info.AC_Hom=460;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-104+324A>G;snpeff.Amino_Acid_length=121;snpeff.Gene_Name=C10orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf35" target="_blank">C10orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373279;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373279;SAVANT_GENE=C10orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf35" target="_blank">C10orf35</a>;SAVANT_INFO=+/3.3kb/4/1.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-1107A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf35+c.-1107A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71390393">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,34:80:99:911,0,1827:127	0|0:78,0:78:99:0,238,3542:127	1|0:31,32:63:99:886,0,1206:127
10	71391538	.	T	C	3531.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1381932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1381932" target="_blank">rs1381932</a>;ExAC.Info.AC=27152;ExAC.Info.AN=126624;ExAC.Info.AF=0.214;ExAC.Info.AC_Het=20310;ExAC.Info.AC_Hom=3077;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp13Asp/c.39T>C;snpeff.Amino_Acid_length=121;snpeff.Gene_Name=C10orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf35" target="_blank">C10orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373279;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373279;SAVANT_GENE=C10orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf35" target="_blank">C10orf35</a>;SAVANT_INFO=+/3.3kb/4/1.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.39T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf35+c.39T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71391538">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,31:73:99:811,0,1137:127	0|0:83,0:83:99:0,249,2868:127	1|0:38,24:62:99:662,0,1098:127
10	71392557	.	C	T	15816.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12020;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12020" target="_blank">rs12020</a>;ExAC.Info.AC=87158;ExAC.Info.AN=126570;ExAC.Info.AF=0.689;ExAC.Info.AC_Het=25785;ExAC.Info.AC_Hom=30172;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn36Asn/c.108C>T;snpeff.Amino_Acid_length=121;snpeff.Gene_Name=C10orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf35" target="_blank">C10orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373279;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373279;SAVANT_GENE=C10orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf35" target="_blank">C10orf35</a>;SAVANT_INFO=+/3.3kb/4/1.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.108C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf35+c.108C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71392557">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1724,161,0:127	1|1:0,76:76:99:2413,226,0:127	1|1:0,64:64:99:2201,192,0:127
10	71392692	.	T	C	22211.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1052152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052152" target="_blank">rs1052152</a>;ExAC.Info.AC=87545;ExAC.Info.AN=126704;ExAC.Info.AF=0.691;ExAC.Info.AC_Het=26107;ExAC.Info.AC_Hom=30704;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu81Leu/c.243T>C;snpeff.Amino_Acid_length=121;snpeff.Gene_Name=C10orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf35" target="_blank">C10orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373279;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373279;SAVANT_GENE=C10orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf35" target="_blank">C10orf35</a>;SAVANT_INFO=+/3.3kb/4/1.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.243T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf35+c.243T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71392692">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2970,247,0:127	1|1:1,98:99:99:3273,260,0:127	1|1:0,69:69:99:2534,207,0:127
10	71562437	.	G	A	5754.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10998973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10998973" target="_blank">rs10998973</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=68882;ExAC.Info.AN=124936;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=29761;ExAC.Info.AC_Hom=19540;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region_1__NC1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region_1__NC1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr86Thr/c.258G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398978;SAVANT_GENE=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;SAVANT_INFO=+/157.2kb/40/3.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.258G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL13A1+c.258G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71562437">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,13:42:99:327,0,810:127	0/1:49,34:83:99:890,0,1372:127	0/1:32,24:56:99:633,0,903:127
10	71583757	.	C	T	3304.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11598684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11598684" target="_blank">rs11598684</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.364+1563C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398978;SAVANT_GENE=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;SAVANT_INFO=+/157.2kb/40/3.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.364+1563C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL13A1+c.364+1563C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71583757">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2900:127	0|0:79,0:79:99:0,238,2909:127	0|1:48,56:104:99:1671,0,1343:127
10	71620436	.	A	AC	2668.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs67173564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67173564" target="_blank">rs67173564</a>;ExAC.Info.AC=12906;ExAC.Info.AN=19578;ExAC.Info.AF=0.659;ExAC.Info.AC_Het=1136;ExAC.Info.AC_Hom=1363;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.365-7117_365-7116insC;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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10	71640197	.	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href="https://www.google.com/search?q=COL13A1+c.436-62C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71640197">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1174:83	0|1:23,12:35:99:312,0,712:83	0|0:28,0:28:84:0,84,943:83
10	71649309	.	A	G	8182.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2683572;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2683572" target="_blank">rs2683572</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.576+113A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_1__COL1_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398978;SAVANT_GENE=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;SAVANT_INFO=+/157.2kb/40/3.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.576+113A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL13A1+c.576+113A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71649309">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:888,78,0:86	1|1:0,43:43:99:1352,129,0:86	1|1:0,29:29:87:1051,87,0:86
10	71657272	.	A	G	36162.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1227746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1227746" target="_blank">rs1227746</a>;ExAC.Info.AC=124818;ExAC.Info.AN=124982;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=162;ExAC.Info.AC_Hom=62205;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region_2__NC2_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln233Gln/c.699A>G;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398978;SAVANT_GENE=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;SAVANT_INFO=+/157.2kb/40/3.1kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.699A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL13A1+c.699A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71657272">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:4352,393,0:127	1|1:0,171:171:99:5916,513,0:127	1|1:0,111:111:99:3739,333,0:127
10	71658512	.	G	A	35414.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=460;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1227747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1227747" target="_blank">rs1227747</a>;ExAC.Info.AC=124954;ExAC.Info.AN=125120;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=161;ExAC.Info.AC_Hom=61875;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region_2__NC2_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr258Thr/c.774G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398978;SAVANT_GENE=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;SAVANT_INFO=+/157.2kb/40/3.1kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.774G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL13A1+c.774G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71658512">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,155:155:99:4926,465,0:127	1|1:0,177:177:99:5650,532,0:127	1|1:0,128:128:99:4259,385,0:127
10	71664661	.	CTT	C	2443.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.333;AN=3;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.889-27_889-26delTT;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_2__COL2_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889_890delTT;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_2__COL2_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889_890delTT;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_2__COL2_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889_890delTT;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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href="https://www.google.com/search?q=COL13A1+c.889-12_889-11delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71664661">View</a>	GT:AD:DP:GQ:PL	./0:3,4:15:14:164,109,252	./0:14,10:35:39:247,39,493	./1:1,17:21:47:400,47,54
10	71664661	.	CTT	CT	2443.71	PASS	InheritancePattern=Normal;AC=3;AF=0.600;AN=5;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.889-26delT;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_2__COL2_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889delT;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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href="https://www.google.com/search?q=COL13A1+c.889-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71664661">View</a>	GT:AD:DP:GQ:PL	0/1:3,8:15:14:164,0,29	0/1:14,11:35:39:247,0,202	./1:1,3:21:47:400,239,212
10	71685532	.	G	C	3254.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1227778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1227778" target="_blank">rs1227778</a>;ExAC.Info.AC=67194;ExAC.Info.AN=120234;ExAC.Info.AF=0.559;ExAC.Info.AC_Het=14117;ExAC.Info.AC_Hom=10485;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1297-28G>C;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398978;SAVANT_GENE=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;SAVANT_INFO=+/157.2kb/40/3.1kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.1297-28G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL13A1+c.1297-28G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71685532">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,29:50:99:933,0,512:110	0|0:37,0:37:99:0,111,1193:110	1|0:20,16:36:99:464,0,592:110
10	71696413	.	C	T	2966.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12571041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12571041" target="_blank">rs12571041</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1738-99C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1738C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1738C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region_3__COL3_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1738C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1738C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1738C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398978;SAVANT_GENE=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;SAVANT_INFO=+/157.2kb/40/3.1kb;SAVANT_LOC=In31/32;SAVANT_HGVS=c.1738-99C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL13A1+c.1738-99C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71696413">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2121:127	0|1:43,32:75:99:830,0,1363:127	0|1:30,25:55:99:673,0,911:127
10	71697516	.	G	C	4588.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3750781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750781" target="_blank">rs3750781</a>;ExAC.Info.AC=39244;ExAC.Info.AN=124930;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=25536;ExAC.Info.AC_Hom=6044;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1845+45G>C;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" 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target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1846G>C;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398978;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398978;SAVANT_GENE=COL13A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL13A1" target="_blank">COL13A1</a>;SAVANT_INFO=+/157.2kb/40/3.1kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.1845+45G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL13A1+c.1845+45G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71697516">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,14:24:99:406,0,327:116	1|1:0,39:39:99:1358,117,0:116	0|1:18,11:29:99:279,0,602:116
10	71849772	.	A	G	32072.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=696;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs16927265;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16927265" target="_blank">rs16927265</a>;ExAC.Info.AC=21950;ExAC.Info.AN=126682;ExAC.Info.AF=0.173;ExAC.Info.AC_Het=17592;ExAC.Info.AC_Hom=2160;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.173-44A>G;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H2AFY2" target="_blank">H2AFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Histone_H2A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.173A>G;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H2AFY2" target="_blank">H2AFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Histone_H2A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.173A>G;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H2AFY2" target="_blank">H2AFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Histone_H2A];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.173A>G;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H2AFY2" target="_blank">H2AFY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373255;SAVANT_GENE=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H2AFY2" target="_blank">H2AFY2</a>;SAVANT_INFO=+/59.5kb/9/2.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.173-44A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=H2AFY2+c.173-44A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71849772">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,222:222:99:7218,666,0:127	1|0:157,97:254:99:2617,0,4376:127	1|0:131,89:220:99:2323,0,3599:127
10	71868763	.	G	A	7690.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2271698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271698" target="_blank">rs2271698</a>;ExAC.Info.AC=75283;ExAC.Info.AN=126690;ExAC.Info.AF=0.594;ExAC.Info.AC_Het=26943;ExAC.Info.AC_Hom=24112;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AIFM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.779-26G>A;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.779G>A;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.779G>A;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.779G>A;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.779G>A;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.779G>A;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.779G>A;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Macro];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.779G>A;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373255;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373255;SAVANT_GENE=H2AFY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H2AFY2" target="_blank">H2AFY2</a>;SAVANT_INFO=+/59.5kb/9/2.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.779-26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=H2AFY2+c.779-26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71868763">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,25:42:99:640,0,476:127	1|1:0,58:58:99:1970,174,0:127	0|1:27,13:40:99:363,0,785:127
10	71874683	.	G	A	6147.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2271696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271696" target="_blank">rs2271696</a>;ExAC.Info.AC=11652;ExAC.Info.AN=126698;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=10166;ExAC.Info.AC_Hom=690;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr321Tyr/c.963C>T;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=AIFM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307864;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307864;SAVANT_GENE=AIFM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;SAVANT_INFO=-/20.7kb/9/3.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.963C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIFM2+c.963C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71874683">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,50:90:99:1281,0,1174:127	0|0:92,1:93:99:0,242,3403:127	1|0:41,38:79:99:1068,0,1378:127
10	71874734	.	G	A	8280.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2271695;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271695" target="_blank">rs2271695</a>;ExAC.Info.AC=11609;ExAC.Info.AN=126704;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=10143;ExAC.Info.AC_Hom=703;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile304Ile/c.912C>T;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=AIFM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307864;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307864;SAVANT_GENE=AIFM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;SAVANT_INFO=-/20.7kb/9/3.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.912C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIFM2+c.912C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71874734">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,63:109:99:1764,0,1233:127	0|0:140,1:141:99:0,388,4769:127	1|0:65,50:115:99:1356,0,1837:127
10	71880190	.	T	C	3457.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2280201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2280201" target="_blank">rs2280201</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.507+73A>G;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=AIFM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307864;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307864;SAVANT_GENE=AIFM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;SAVANT_INFO=-/20.7kb/9/3.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.507+73A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIFM2+c.507+73A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71880190">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,25:46:99:709,0,521:127	0|0:48,0:48:99:0,144,1564:127	1|0:23,22:45:99:567,0,700:127
10	71880858	.	A	G	5823.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10999147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10999147" target="_blank">rs10999147</a>;ExAC.Info.AC=11156;ExAC.Info.AN=126704;ExAC.Info.AF=0.088;ExAC.Info.AC_Het=9904;ExAC.Info.AC_Hom=622;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met135Thr/c.404T>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=AIFM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307864;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307864;SAVANT_GENE=AIFM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AIFM2" target="_blank">AIFM2</a>;SAVANT_INFO=-/20.7kb/9/3.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.404T>C_p.Met135Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AIFM2+c.404T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71880858">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,46:93:99:1209,0,1253:127	1|0:57,48:105:99:1246,0,1446:127	0|0:89,0:89:99:0,267,2810:127
10	71905569	.	C	A	11629.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3750774;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750774" target="_blank">rs3750774</a>;ExAC.Info.AC=8163;ExAC.Info.AN=29646;ExAC.Info.AF=0.275;ExAC.Info.AC_Het=2652;ExAC.Info.AC_Hom=1042;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctT;snpeff.Amino_Acid_Change=p.Leu258Leu/c.774G>T;snpeff.Amino_Acid_length=566;snpeff.Gene_Name=TYSND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TYSND1" target="_blank">TYSND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287078;SAVANT_GENE=TYSND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TYSND1" target="_blank">TYSND1</a>;SAVANT_INFO=-/8.6kb/4/3.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.774G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TYSND1+c.774G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71905569">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1137,114,0:116	1|1:0,49:49:99:1625,147,0:116	1|1:0,39:39:99:1398,117,0:116
10	71906150	.	T	C	11028.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4746970;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4746970" target="_blank">rs4746970</a>;ExAC.Info.AC=47188;ExAC.Info.AN=119008;ExAC.Info.AF=0.397;ExAC.Info.AC_Het=18492;ExAC.Info.AC_Hom=7424;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr65Ala/c.193A>G;snpeff.Amino_Acid_length=566;snpeff.Gene_Name=TYSND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TYSND1" target="_blank">TYSND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287078;SAVANT_GENE=TYSND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TYSND1" target="_blank">TYSND1</a>;SAVANT_INFO=-/8.6kb/4/3.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.193A>G_p.Thr65Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TYSND1+c.193A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71906150">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:834,75,0:109	1|1:1,47:48:99:1642,110,0:109	1|1:0,45:45:99:1545,135,0:109
10	71921591	.	G	A	6849.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2271690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271690" target="_blank">rs2271690</a>;ExAC.Info.AC=39051;ExAC.Info.AN=126700;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=25468;ExAC.Info.AC_Hom=6762;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.58+23C>T;snpeff.Amino_Acid_length=198;snpeff.Gene_Name=SAR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAR1A" target="_blank">SAR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373238;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373238;SAVANT_GENE=SAR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAR1A" target="_blank">SAR1A</a>;SAVANT_INFO=-/12.8kb/7/3.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.58+23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAR1A+c.58+23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71921591">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,21:44:99:573,0,680:127	0|1:27,28:55:99:750,0,786:127	1|1:0,55:55:99:1955,165,0:127
10	71964549	.	G	A	1333.07	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=46;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10999182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10999182" target="_blank">rs10999182</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.838+80C>T;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=PPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPA1" target="_blank">PPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373232;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373232;SAVANT_GENE=PPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPA1" target="_blank">PPA1</a>;SAVANT_INFO=-/30.6kb/11/1.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.838+80C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPA1+c.838+80C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71964549">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,8:17:99:167,0,316:24	1|0:4,17:21:70:470,0,70:24	0|0:8,0:8:24:0,24,299:24
10	71990196	.	G	A	2543.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=68;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7904074;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7904074" target="_blank">rs7904074</a>;ExAC.Info.AC=39362;ExAC.Info.AN=123770;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=17351;ExAC.Info.AC_Hom=4810;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.65-41C>T;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=PPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPA1" target="_blank">PPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373232;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373232;SAVANT_GENE=PPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPA1" target="_blank">PPA1</a>;SAVANT_INFO=-/30.6kb/11/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.65-41C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPA1+c.65-41C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71990196">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,10:22:99:275,0,355:87	0|1:10,7:17:99:186,0,298:87	1|1:0,29:29:87:875,87,0:87
10	71993150	.	G	T	764.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs187499929;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=187499929" target="_blank">rs187499929</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=67;snpeff.Amino_Acid_Change=c.-67C>A;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=PPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPA1" target="_blank">PPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373232;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373232;SAVANT_GENE=PPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPA1" target="_blank">PPA1</a>;SAVANT_INFO=-/30.6kb/11/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-67C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPA1+c.-67C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:71993150">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,839:71	0|1:20,13:33:99:401,0,614:71	0|0:34,0:34:99:0,102,1178:71
10	72014779	.	G	A	2104.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1999624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1999624" target="_blank">rs1999624</a>;ExAC.Info.AC=2948;ExAC.Info.AN=109558;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=661;ExAC.Info.AC_Hom=19;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1227G>A;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=NPFFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPFFR1" target="_blank">NPFFR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277942;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His409His/c.1227C>T;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=NPFFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPFFR1" target="_blank">NPFFR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277942;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277942;SAVANT_GENE=NPFFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPFFR1" target="_blank">NPFFR1</a>;SAVANT_INFO=-/28.7kb/4/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1227C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPFFR1+c.1227C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72014779">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,7:22:99:140,0,519:54	1|0:7,19:26:99:623,0,171:54	0|0:18,0:18:54:0,54,693:54
10	72014863	.	G	A	1596.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=59;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs60225321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60225321" target="_blank">rs60225321</a>;ExAC.Info.AC=1819;ExAC.Info.AN=86516;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=298;ExAC.Info.AC_Hom=10;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1143G>A;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=NPFFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPFFR1" target="_blank">NPFFR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277942;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser381Ser/c.1143C>T;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=NPFFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPFFR1" target="_blank">NPFFR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277942;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277942;SAVANT_GENE=NPFFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPFFR1" target="_blank">NPFFR1</a>;SAVANT_INFO=-/28.7kb/4/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1143C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPFFR1+c.1143C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72014863">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,8:16:99:261,0,249:57	1|0:13,11:24:99:362,0,412:57	0|0:19,0:19:57:0,57,711:57
10	72043389	.	T	G	11049.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1889394;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889394" target="_blank">rs1889394</a>;ExAC.Info.AC=19049;ExAC.Info.AN=19200;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=21;ExAC.Info.AC_Hom=6532;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7+37A>C;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=NPFFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPFFR1" target="_blank">NPFFR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277942;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8T>G;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=NPFFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPFFR1" target="_blank">NPFFR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277942;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8T>G;snpeff.Amino_Acid_length=430;snpeff.Gene_Name=NPFFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPFFR1" target="_blank">NPFFR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277942;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000277942;SAVANT_GENE=NPFFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPFFR1" target="_blank">NPFFR1</a>;SAVANT_INFO=-/28.7kb/4/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.7+37A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPFFR1+c.7+37A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72043389">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1412,132,0:114	1|1:0,65:65:99:2213,195,0:114	1|1:0,38:38:99:1174,114,0:114
10	72043460	.	T	G	554.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10999239;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10999239" target="_blank">rs10999239</a>;ExAC.Info.AC=4452;ExAC.Info.AN=19100;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=2677;ExAC.Info.AC_Hom=669;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10999239" target="_blank">rs10999239</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72043460">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,849:74	0|0:30,0:30:89:0,89,1008:74	0|1:16,11:27:99:296,0,463:74
10	72179746	.	C	T	19137.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=422;MQ=69.97;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1043098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1043098" target="_blank">rs1043098</a>;ExAC.Info.AC=63802;ExAC.Info.AN=126704;ExAC.Info.AF=0.504;ExAC.Info.AC_Het=30801;ExAC.Info.AC_Hom=16494;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His74His/c.222C>T;snpeff.Amino_Acid_length=120;snpeff.Gene_Name=EIF4EBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4EBP2" target="_blank">EIF4EBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373218;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373218;SAVANT_GENE=EIF4EBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4EBP2" target="_blank">EIF4EBP2</a>;SAVANT_INFO=+/24.2kb/3/7.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.222C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4EBP2+c.222C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72179746">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,78:147:99:2091,0,1899:127	0|1:70,69:139:99:1918,0,1995:127	1|1:0,136:136:99:4793,409,0:127
10	72195439	.	T	C	18001.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Heterotaxy|_visceral|_5|_270100_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1904589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1904589" target="_blank">rs1904589</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_activity;hgmd_2014.2.OMIM_ID=601265;hgmd_2014.2.PubMed=19553149;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19553149" target="_blank">19553149</a>;ExAC.Info.AC=78175;ExAC.Info.AN=126702;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=28127;ExAC.Info.AC_Hom=24896;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000081930;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.494T>C;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=NODAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NODAL" target="_blank">NODAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287139;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.494T>C;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=NODAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NODAL" target="_blank">NODAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287139;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His165Arg/c.494A>G;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=NODAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NODAL" target="_blank">NODAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287139;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val129Ala/c.386T>C;snpeff.Amino_Acid_length=157;snpeff.Gene_Name=AC022532.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NODAL" target="_blank">NODAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000420338;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287139:ENST00000420338;SAVANT_GENE=NODAL:AC022532.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NODAL:AC0225321" target="_blank">NODAL:AC0225321</a>;SAVANT_INFO=-/9.4kb/3/1.7kb:+/1.7kb/1/1.7kb;SAVANT_LOC=Ex2:Ex1;SAVANT_HGVS=c.494A>G_p.His165Arg:c.386T>C_p.Val129Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NODAL:AC0225321+c.494A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72195439">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081930" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:53,67:120:99:1969,0,1381:127	0|1:79,60:139:99:1603,0,2330:127	1|1:0,126:126:99:4424,379,0:127
10	72201219	.	G	A	14545.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=325;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Heterotaxy|_visceral|_5|_270100_(3);dbSNP139.ID=rs10999338;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10999338" target="_blank">rs10999338</a>;ExAC.Info.AC=40592;ExAC.Info.AN=117792;ExAC.Info.AF=0.345;ExAC.Info.AC_Het=10154;ExAC.Info.AC_Hom=3569;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000081929;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.193+12C>T;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=NODAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NODAL" target="_blank">NODAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287139;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.194G>A;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=NODAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NODAL" target="_blank">NODAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287139;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.194G>A;snpeff.Amino_Acid_length=347;snpeff.Gene_Name=NODAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NODAL" target="_blank">NODAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287139;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287139;SAVANT_GENE=NODAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NODAL" target="_blank">NODAL</a>;SAVANT_INFO=-/9.4kb/3/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.193+12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NODAL+c.193+12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72201219">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081929" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:46,56:102:99:1440,0,1147:127	0|1:75,68:143:99:1789,0,1769:127	1|1:0,80:80:99:2809,240,0:127
10	72288964	.	GCCCCC	G	358.07	VQSRTrancheINDEL99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=25;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs60188579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60188579" target="_blank">rs60188579</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.186-20_186-16delCCCCC;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=PALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PALD1" target="_blank">PALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263563;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263563;SAVANT_GENE=KIAA1274;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1274" target="_blank">KIAA1274</a>;SAVANT_INFO=+/89.6kb/20/4.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.186-7_186-3del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1274+c.186-7_186-3del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72288964">View</a>	GT:AD:DP:GQ:PL:TP	0|0:6,0:6:18:0,18,213:18	0|1:7,4:11:63:63,0,229:18	0|1:5,3:8:99:112,0,105:18
10	72288966	.	C	A	11.2	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=39;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35277718;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35277718" target="_blank">rs35277718</a>;ExAC.Info.AC=21025;ExAC.Info.AN=54928;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=6536;ExAC.Info.AC_Hom=2038;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.186-19C>A;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=PALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PALD1" target="_blank">PALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263563;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263563;SAVANT_GENE=KIAA1274;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1274" target="_blank">KIAA1274</a>;SAVANT_INFO=+/89.6kb/20/4.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.186-19C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1274+c.186-19C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72288966">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,0:11:33:0,33,362:23	0|1:9,2:11:24:24,0,247:23	0|0:17,0:17:51:0,51,614:23
10	72289701	.	G	A	860.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2275059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275059" target="_blank">rs2275059</a>;ExAC.Info.AC=22903;ExAC.Info.AN=126704;ExAC.Info.AF=0.181;ExAC.Info.AC_Het=17281;ExAC.Info.AC_Hom=2787;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val115Val/c.345G>A;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=PALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PALD1" target="_blank">PALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263563;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263563;SAVANT_GENE=KIAA1274;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1274" target="_blank">KIAA1274</a>;SAVANT_INFO=+/89.6kb/20/4.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.345G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1274+c.345G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72289701">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2579:127	0|1:44,16:60:99:449,0,1396:127	0|0:45,0:45:99:0,135,1720:127
10	72293713	.	C	T	1458.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12764399;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12764399" target="_blank">rs12764399</a>;ExAC.Info.AC=16021;ExAC.Info.AN=126664;ExAC.Info.AF=0.126;ExAC.Info.AC_Het=13455;ExAC.Info.AC_Hom=1195;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His302His/c.906C>T;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=PALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PALD1" target="_blank">PALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263563;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263563;SAVANT_GENE=KIAA1274;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1274" target="_blank">KIAA1274</a>;SAVANT_INFO=+/89.6kb/20/4.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.906C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1274+c.906C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72293713">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,1:35:67:0,67,1057:67	0|0:62,0:62:99:0,186,2072:67	0|1:38,26:64:99:748,0,1010:67
10	72298631	.	T	C	30038.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1122918;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1122918" target="_blank">rs1122918</a>;ExAC.Info.AC=118142;ExAC.Info.AN=126290;ExAC.Info.AF=0.935;ExAC.Info.AC_Het=6942;ExAC.Info.AC_Hom=54085;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1453-17T>C;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=PALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PALD1" target="_blank">PALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263563;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263563;SAVANT_GENE=KIAA1274;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1274" target="_blank">KIAA1274</a>;SAVANT_INFO=+/89.6kb/20/4.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1453-17T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1274+c.1453-17T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72298631">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3744,330,0:127	1|1:0,113:113:99:4042,340,0:127	1|1:0,92:92:99:3325,277,0:127
10	72307053	.	T	C	876.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs67684173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67684173" target="_blank">rs67684173</a>;ExAC.Info.AC=17045;ExAC.Info.AN=126704;ExAC.Info.AF=0.135;ExAC.Info.AC_Het=14276;ExAC.Info.AC_Hom=1383;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2122-9T>C;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=PALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PALD1" target="_blank">PALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263563;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263563;SAVANT_GENE=KIAA1274;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1274" target="_blank">KIAA1274</a>;SAVANT_INFO=+/89.6kb/20/4.6kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2122-9T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1274+c.2122-9T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72307053">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1914:127	0|0:60,0:60:99:0,180,1981:127	0|1:35,19:54:99:457,0,978:127
10	72307101	.	C	T	1036.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740447;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740447" target="_blank">rs3740447</a>;ExAC.Info.AC=21466;ExAC.Info.AN=126704;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=16485;ExAC.Info.AC_Hom=2488;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg721Cys/c.2161C>T;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=PALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PALD1" target="_blank">PALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263563;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263563;SAVANT_GENE=KIAA1274;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1274" target="_blank">KIAA1274</a>;SAVANT_INFO=+/89.6kb/20/4.6kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2161C>T_p.Arg721Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1274+c.2161C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72307101">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1628:107	0|1:25,19:44:99:537,0,666:107	0|0:36,0:36:99:0,108,1222:107
10	72324143	.	A	G	11109.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7093516;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7093516" target="_blank">rs7093516</a>;ExAC.Info.AC=125166;ExAC.Info.AN=126692;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1376;ExAC.Info.AC_Hom=61719;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln762Gln/c.2286A>G;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=PALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PALD1" target="_blank">PALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263563;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263563;SAVANT_GENE=KIAA1274;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1274" target="_blank">KIAA1274</a>;SAVANT_INFO=+/89.6kb/20/4.6kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2286A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1274+c.2286A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72324143">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1726,147,0:80	1|1:0,51:51:99:1943,153,0:80	1|1:0,27:27:81:1051,81,0:80
10	72326400	.	G	A	2832.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10999406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10999406" target="_blank">rs10999406</a>;ExAC.Info.AC=15186;ExAC.Info.AN=126550;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=12409;ExAC.Info.AC_Hom=999;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly828Arg/c.2482G>A;snpeff.Amino_Acid_length=856;snpeff.Gene_Name=PALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PALD1" target="_blank">PALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263563;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263563;SAVANT_GENE=KIAA1274;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1274" target="_blank">KIAA1274</a>;SAVANT_INFO=+/89.6kb/20/4.6kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2482G>A_p.Gly828Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1274+c.2482G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72326400">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,19:37:99:512,0,541:127	0|0:53,0:53:99:0,159,1821:127	1|0:23,15:38:99:355,0,632:127
10	72357599	.	TA	T	1280.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hemophagocytic_lymphohistiocytosis|_familial|_2|_603553_(3)|_Lymphoma|_non-Hodgkin|_605027_(3);dbSNP139.ID=rs34914326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34914326" target="_blank">rs34914326</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=209;snpeff.Amino_Acid_Change=c.*209delT;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=PRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRF1" target="_blank">PRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373209;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000441259;SAVANT_GENE=PRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRF1" target="_blank">PRF1</a>;SAVANT_INFO=-/5.4kb/3/2.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*209delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRF1+c.*209delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72357599">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,13:25:99:212,0,187:127	0/1:15,14:29:99:227,0,253:127	0/1:11,12:23:99:180,0,188:127
10	72357713	.	C	T	43738.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=547;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Hemophagocytic_lymphohistiocytosis|_familial|_2|_603553_(3)|_Lymphoma|_non-Hodgkin|_605027_(3);dbSNP139.ID=rs1889490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889490" target="_blank">rs1889490</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=96;snpeff.Amino_Acid_Change=c.*96G>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=PRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRF1" target="_blank">PRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373209;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441259;SAVANT_GENE=PRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRF1" target="_blank">PRF1</a>;SAVANT_INFO=-/5.4kb/3/2.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*96G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRF1+c.*96G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72357713">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,177:177:99:7945,539,0:127	1|0:92,78:170:99:3045,0,2826:127	1|1:0,200:200:99:8096,614,0:127
10	72357720	.	G	A	26604.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=579;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hemophagocytic_lymphohistiocytosis|_familial|_2|_603553_(3)|_Lymphoma|_non-Hodgkin|_605027_(3);dbSNP139.ID=rs6480459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6480459" target="_blank">rs6480459</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=89;snpeff.Amino_Acid_Change=c.*89C>T;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=PRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRF1" target="_blank">PRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373209;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441259;SAVANT_GENE=PRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRF1" target="_blank">PRF1</a>;SAVANT_INFO=-/5.4kb/3/2.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*89C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRF1+c.*89C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72357720">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,184:184:99:5987,553,0:127	1|0:95,85:180:99:2329,0,3695:127	1|0:103,112:215:99:3010,0,3217:127
10	72358577	.	G	A	29864.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Hemophagocytic_lymphohistiocytosis|_familial|_2|_603553_(3)|_Lymphoma|_non-Hodgkin|_605027_(3);dbSNP139.ID=rs885822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=885822" target="_blank">rs885822</a>;ExAC.Info.AC=80512;ExAC.Info.AN=126704;ExAC.Info.AF=0.635;ExAC.Info.AC_Het=28468;ExAC.Info.AC_Hom=26013;snpeff.Effect=sequence_feature[domain:MACPF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=PRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRF1" target="_blank">PRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373209;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MACPF];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=PRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRF1" target="_blank">PRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373209;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=PRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRF1" target="_blank">PRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373209;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His300His/c.900C>T;snpeff.Amino_Acid_length=555;snpeff.Gene_Name=PRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRF1" target="_blank">PRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373209;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441259;SAVANT_GENE=PRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRF1" target="_blank">PRF1</a>;SAVANT_INFO=-/5.4kb/3/2.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.900C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRF1+c.900C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72358577">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:4992,445,0:127	1|0:83,80:163:99:2300,0,2370:127	1|1:0,122:122:99:4246,367,0:127
10	72432498	.	C	A	1664.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12762780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12762780" target="_blank">rs12762780</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12762780" target="_blank">rs12762780</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72432498">View</a>	GT:AD:DP:GQ:PL:TP	0|0:23,0:23:69:0,69,853:69	0|1:11,16:27:99:513,0,310:69	0|1:11,11:22:99:339,0,349:69
10	72432521	.	A	C	1988.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12762616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12762616" target="_blank">rs12762616</a>;ExAC.Info.AC=17046;ExAC.Info.AN=73496;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=2759;ExAC.Info.AC_Hom=1346;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12762616" target="_blank">rs12762616</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72432521">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1123:120	0|1:16,23:39:99:633,0,388:120	0|1:15,12:27:99:381,0,412:120
10	72490053	.	C	T	10785.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs41313842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41313842" target="_blank">rs41313842</a>;ExAC.Info.AC=6546;ExAC.Info.AN=126578;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=5622;ExAC.Info.AC_Hom=198;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1111+39C>T;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373208;SAVANT_GENE=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;SAVANT_INFO=+/89.6kb/22/5.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1111+39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS14+c.1111+39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72490053">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1675,150,0:127	1|0:34,38:72:99:1074,0,921:127	1|0:23,29:52:99:826,0,569:127
10	72500763	.	T	C	11248.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10823607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10823607" target="_blank">rs10823607</a>;ExAC.Info.AC=106563;ExAC.Info.AN=126686;ExAC.Info.AF=0.841;ExAC.Info.AC_Het=16215;ExAC.Info.AC_Hom=45041;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1778T>C;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1778T>C;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1778T>C;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1778T>C;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu593Pro/c.1778T>C;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373208;SAVANT_GENE=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;SAVANT_INFO=+/89.6kb/22/5.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1778T>C_p.Leu593Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS14+c.1778T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72500763">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,37:86:99:940,0,1376:127	0|1:45,49:94:99:1337,0,1361:127	1|1:0,73:73:99:2473,219,0:127
10	72500863	.	C	G	9512.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10999500;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10999500" target="_blank">rs10999500</a>;ExAC.Info.AC=79623;ExAC.Info.AN=126682;ExAC.Info.AF=0.629;ExAC.Info.AC_Het=28656;ExAC.Info.AC_Hom=25294;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1878C>G;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1878C>G;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1878C>G;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1878C>G;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcG;snpeff.Amino_Acid_Change=p.Ser626Ser/c.1878C>G;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373208;SAVANT_GENE=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;SAVANT_INFO=+/89.6kb/22/5.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1878C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS14+c.1878C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72500863">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,22:63:99:623,0,1246:127	0|1:41,35:76:99:1021,0,1270:127	1|1:0,62:62:99:2242,186,0:127
10	72503344	.	G	A	4110.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10999502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10999502" target="_blank">rs10999502</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=33982;ExAC.Info.AN=126684;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=23348;ExAC.Info.AC_Hom=5237;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974G>A;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974G>A;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974G>A;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1974G>A;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr658Thr/c.1974G>A;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373208;SAVANT_GENE=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;SAVANT_INFO=+/89.6kb/22/5.3kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1974G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS14+c.1974G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72503344">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,345,3581:127	0|0:131,0:131:99:0,394,4647:127	0|1:68,71:139:99:2074,0,1853:127
10	72517830	.	G	A	3932.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10999516;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10999516" target="_blank">rs10999516</a>;ExAC.Info.AC=23740;ExAC.Info.AN=126666;ExAC.Info.AF=0.187;ExAC.Info.AC_Het=18726;ExAC.Info.AC_Hom=2386;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3059G>A;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_type-1_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3059G>A;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_type-1_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3059G>A;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser1020Asn/c.3059G>A;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373208;SAVANT_GENE=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;SAVANT_INFO=+/89.6kb/22/5.3kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.3059G>A_p.Ser1020Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS14+c.3059G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72517830">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,13:29:99:372,0,633:89	1|1:0,39:39:99:1419,117,0:89	0|0:30,0:30:90:0,90,1270:89
10	72517837	.	C	T	2612.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6480463;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6480463" target="_blank">rs6480463</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=70409;ExAC.Info.AN=126640;ExAC.Info.AF=0.556;ExAC.Info.AC_Het=30270;ExAC.Info.AC_Hom=19728;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3066C>T;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_type-1_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3066C>T;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TSP_type-1_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3066C>T;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro1022Pro/c.3066C>T;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373208;SAVANT_GENE=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;SAVANT_INFO=+/89.6kb/22/5.3kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.3066C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS14+c.3066C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72517837">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,17:34:99:484,0,603:127	0|0:49,0:49:99:0,150,2067:127	1|0:14,19:33:99:525,0,391:127
10	72518009	.	A	G	6697.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4747096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4747096" target="_blank">rs4747096</a>;ExAC.Info.AC=24022;ExAC.Info.AN=126704;ExAC.Info.AF=0.190;ExAC.Info.AC_Het=19018;ExAC.Info.AC_Hom=2476;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu1052Gly/c.3155A>G;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373208;SAVANT_GENE=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;SAVANT_INFO=+/89.6kb/22/5.3kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.3155A>G_p.Glu1052Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS14+c.3155A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72518009">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,22:39:99:566,0,502:127	1|1:0,71:71:99:2364,213,0:127	0|0:50,0:50:99:0,150,1730:127
10	72518075	.	C	T	8721.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4747097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4747097" target="_blank">rs4747097</a>;ExAC.Info.AC=33005;ExAC.Info.AN=126564;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=22247;ExAC.Info.AC_Hom=3834;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3187+34C>T;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188C>T;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3188C>T;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373208;SAVANT_GENE=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;SAVANT_INFO=+/89.6kb/22/5.3kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.3187+34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS14+c.3187+34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72518075">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1349,126,0:125	1|1:0,50:50:99:1743,150,0:125	1|0:27,20:47:99:507,0,726:125
10	72520330	.	A	G	2634.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10823615;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10823615" target="_blank">rs10823615</a>;ExAC.Info.AC=45967;ExAC.Info.AN=126686;ExAC.Info.AF=0.363;ExAC.Info.AC_Het=28650;ExAC.Info.AC_Hom=8603;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3402A>G;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala1134Ala/c.3402A>G;snpeff.Amino_Acid_length=1226;snpeff.Gene_Name=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373208;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373208;SAVANT_GENE=ADAMTS14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAMTS14" target="_blank">ADAMTS14</a>;SAVANT_INFO=+/89.6kb/22/5.3kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.3402A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAMTS14+c.3402A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72520330">View</a>	GT:AD:DP:GQ:PL:TP	0|0:124,0:124:99:0,373,4396:127	0|0:168,0:168:99:0,504,5862:127	0|1:52,50:102:99:1336,0,1425:127
10	72532037	.	C	T	10314.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2253793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2253793" target="_blank">rs2253793</a>;ExAC.Info.AC=14577;ExAC.Info.AN=67394;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=5906;ExAC.Info.AC_Hom=1621;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.970+233G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=TBATA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBATA" target="_blank">TBATA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299290;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299290;SAVANT_GENE=C10orf27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf27" target="_blank">C10orf27</a>;SAVANT_INFO=-/14.2kb/11/1.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.970+233G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf27+c.970+233G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72532037">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,67:147:99:1734,0,2115:127	0|0:154,0:154:99:0,462,4800:127	1|0:49,70:119:99:2007,0,1163:127
10	72532106	.	ATAAATATTTGT	A	3161.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3832689;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3832689" target="_blank">rs3832689</a>;ExAC.Info.AC=23326;ExAC.Info.AN=119060;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=10752;ExAC.Info.AC_Hom=1721;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.970+153_970+163delACAAATATTTA;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=TBATA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBATA" target="_blank">TBATA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299290;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000299290;SAVANT_GENE=C10orf27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf27" target="_blank">C10orf27</a>;SAVANT_INFO=-/14.2kb/11/1.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.970+153_970+163del11;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf27+c.970+153_970+163del11+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72532106">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,293,4354:127	0|0:105,0:105:99:0,314,4696:127	0|1:42,42:84:99:1604,0,1595:127
10	72532238	.	T	C	6584.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2253801;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2253801" target="_blank">rs2253801</a>;ExAC.Info.AC=55948;ExAC.Info.AN=126702;ExAC.Info.AF=0.442;ExAC.Info.AC_Het=30775;ExAC.Info.AC_Hom=12558;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.970+32A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=TBATA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBATA" target="_blank">TBATA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299290;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299290;SAVANT_GENE=C10orf27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf27" target="_blank">C10orf27</a>;SAVANT_INFO=-/14.2kb/11/1.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.970+32A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf27+c.970+32A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72532238">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,47:81:99:1472,0,794:127	0|0:122,0:122:99:0,367,4068:127	1|0:48,41:89:99:1152,0,1383:127
10	72535007	.	C	T	30695.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2254174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2254174" target="_blank">rs2254174</a>;ExAC.Info.AC=104399;ExAC.Info.AN=126702;ExAC.Info.AF=0.824;ExAC.Info.AC_Het=16903;ExAC.Info.AC_Hom=43713;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg237Gln/c.710G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=TBATA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBATA" target="_blank">TBATA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299290;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299290;SAVANT_GENE=C10orf27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf27" target="_blank">C10orf27</a>;SAVANT_INFO=-/14.2kb/11/1.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.710G>A_p.Arg237Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf27+c.710G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72535007">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4189,387,0:127	1|1:0,163:163:99:5535,490,0:127	1|0:68,53:121:99:1462,0,1866:127
10	72536936	.	A	G	10552.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2254433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2254433" target="_blank">rs2254433</a>;ExAC.Info.AC=33941;ExAC.Info.AN=126698;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=24197;ExAC.Info.AC_Hom=4825;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala221Ala/c.663T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=TBATA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBATA" target="_blank">TBATA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299290;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299290;SAVANT_GENE=C10orf27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf27" target="_blank">C10orf27</a>;SAVANT_INFO=-/14.2kb/11/1.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.663T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf27+c.663T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72536936">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,42:88:99:1180,0,1259:127	1|1:0,90:90:99:2995,270,0:127	0|0:85,0:85:99:0,255,2874:127
10	72537620	.	C	T	8968.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs67979347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67979347" target="_blank">rs67979347</a>;ExAC.Info.AC=637;ExAC.Info.AN=18448;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=442;ExAC.Info.AC_Hom=16;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.508-529G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=TBATA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBATA" target="_blank">TBATA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299290;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299290;SAVANT_GENE=C10orf27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf27" target="_blank">C10orf27</a>;SAVANT_INFO=-/14.2kb/11/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.508-529G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf27+c.508-529G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72537620">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,22:93:99:389,0,2075:127	1|1:2,98:100:99:3072,250,0:127	0|0:159,0:159:99:0,477,5234:127
10	72538442	.	C	T	7318.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs67842825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67842825" target="_blank">rs67842825</a>;ExAC.Info.AC=8548;ExAC.Info.AN=126696;ExAC.Info.AF=0.067;ExAC.Info.AC_Het=7801;ExAC.Info.AC_Hom=366;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.428-50G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=TBATA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBATA" target="_blank">TBATA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299290;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299290;SAVANT_GENE=C10orf27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf27" target="_blank">C10orf27</a>;SAVANT_INFO=-/14.2kb/11/1.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.428-50G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf27+c.428-50G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72538442">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,27:46:99:740,0,496:127	1|1:0,65:65:99:2249,195,0:127	0|0:43,0:43:99:0,129,1554:127
10	72619205	.	C	T	50930.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=681;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs827255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=827255" target="_blank">rs827255</a>;ExAC.Info.AC=126142;ExAC.Info.AN=126696;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=522;ExAC.Info.AC_Hom=62787;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile188Ile/c.564C>T;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373202;SAVANT_GENE=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;SAVANT_INFO=+/65.2kb/15/5.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.564C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGPL1+c.564C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72619205">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,196:196:99:6320,589,0:127	1|1:0,255:255:99:8650,766,0:127	1|1:0,230:230:99:7827,691,0:127
10	72636450	.	T	G	51770.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=647;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs923177;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=923177" target="_blank">rs923177</a>;ExAC.Info.AC=96992;ExAC.Info.AN=126674;ExAC.Info.AF=0.766;ExAC.Info.AC_Het=22238;ExAC.Info.AC_Hom=36971;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1566+32T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1567T>G;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373202;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373202;SAVANT_GENE=SGPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SGPL1" target="_blank">SGPL1</a>;SAVANT_INFO=+/65.2kb/15/5.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1566+32T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SGPL1+c.1566+32T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72636450">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,221:221:99:7546,664,0:127	1|1:0,229:229:99:8051,688,0:127	1|1:0,197:197:99:6776,592,0:127
10	72643671	.	C	T	7240.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperphenylalaninemia|_BH4-deficient|_D|_264070_(3);dbSNP139.ID=rs9712;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9712" target="_blank">rs9712</a>;ExAC.Info.AC=95316;ExAC.Info.AN=126282;ExAC.Info.AF=0.755;ExAC.Info.AC_Het=18176;ExAC.Info.AC_Hom=29892;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=36;snpeff.Amino_Acid_Change=c.*36G>A;snpeff.Amino_Acid_length=104;snpeff.Gene_Name=PCBD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCBD1" target="_blank">PCBD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299299;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299299;SAVANT_GENE=PCBD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCBD1" target="_blank">PCBD1</a>;SAVANT_INFO=-/5.3kb/4/1.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*36G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCBD1+c.*36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72643671">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1072,93,0:48	1|1:0,38:38:99:1360,114,0:48	1|1:0,16:16:48:602,48,0:48
10	72648134	.	A	G	4438.95	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperphenylalaninemia|_BH4-deficient|_D|_264070_(3);dbSNP139.ID=rs827238;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=827238" target="_blank">rs827238</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3+154T>C;snpeff.Amino_Acid_length=104;snpeff.Gene_Name=PCBD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCBD1" target="_blank">PCBD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299299;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299299;SAVANT_GENE=PCBD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCBD1" target="_blank">PCBD1</a>;SAVANT_INFO=-/5.3kb/4/1.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.3+154T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCBD1+c.3+154T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72648134">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,16:16:48:509,48,0:18	1|1:0,23:23:69:769,69,0:18	1|1:0,6:6:18:235,18,0:18
10	72648422	.	G	T	10032.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperphenylalaninemia|_BH4-deficient|_D|_264070_(3);dbSNP139.ID=rs2630336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2630336" target="_blank">rs2630336</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=132;snpeff.Amino_Acid_Change=c.-132C>A;snpeff.Amino_Acid_length=104;snpeff.Gene_Name=PCBD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCBD1" target="_blank">PCBD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299299;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299299;SAVANT_GENE=PCBD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCBD1" target="_blank">PCBD1</a>;SAVANT_INFO=-/5.3kb/4/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-132C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCBD1+c.-132C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72648422">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1376,114,0:116	1|1:0,47:47:99:1502,140,0:116	1|1:0,39:39:99:1321,117,0:116
10	72813306	.	G	A	1996.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10762420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10762420" target="_blank">rs10762420</a>;ExAC.Info.AC=61258;ExAC.Info.AN=116674;ExAC.Info.AF=0.525;ExAC.Info.AC_Het=28183;ExAC.Info.AC_Hom=15741;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10762420" target="_blank">rs10762420</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72813306">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,273,3000:127	0|0:109,0:109:99:0,327,3733:127	0|1:59,43:102:99:1017,0,1627:127
10	72813361	.	A	G	1484.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10740361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740361" target="_blank">rs10740361</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740361" target="_blank">rs10740361</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:72813361">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,1982:127	0|0:92,0:92:99:0,276,3147:127	0|1:36,26:62:99:761,0,1066:127
10	73044580	.	G	A	17805.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12770025;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12770025" target="_blank">rs12770025</a>;ExAC.Info.AC=78848;ExAC.Info.AN=126684;ExAC.Info.AF=0.622;ExAC.Info.AC_Het=27553;ExAC.Info.AC_Hom=25477;snpeff.Effect=sequence_feature[domain:Ig-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala136Ala/c.408G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335350;SAVANT_GENE=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;SAVANT_INFO=+/90.3kb/17/6.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.408G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UNC5B+c.408G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73044580">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:1874,174,0:127	1|1:0,75:75:99:2665,225,0:127	1|1:0,75:75:99:2580,225,0:127
10	73044674	.	G	A	14872.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10999762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10999762" target="_blank">rs10999762</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.448+54G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335350;SAVANT_GENE=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;SAVANT_INFO=+/90.3kb/17/6.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.448+54G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UNC5B+c.448+54G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73044674">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2019,198,0:127	1|1:0,68:68:99:2243,204,0:127	1|1:0,54:54:99:1961,162,0:127
10	73047593	.	G	A	11024.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7074280;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7074280" target="_blank">rs7074280</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.901+71G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.902G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.902G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.902G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.902G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.902G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.902G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.902G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.902G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.902G>A;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335350;SAVANT_GENE=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;SAVANT_INFO=+/90.3kb/17/6.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.901+71G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UNC5B+c.901+71G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73047593">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1690,159,0:127	1|1:0,50:50:99:1709,150,0:127	1|1:0,46:46:99:1574,138,0:127
10	73050759	.	T	G	139.18	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs117156661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=117156661" target="_blank">rs117156661</a>;ExAC.Info.AC=741;ExAC.Info.AN=126696;ExAC.Info.AF=5.849e-03;ExAC.Info.AC_Het=709;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1187T>G;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gGg;snpeff.Amino_Acid_Change=p.Val396Gly/c.1187T>G;snpeff.Amino_Acid_length=945;snpeff.Gene_Name=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335350;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335350;SAVANT_GENE=UNC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC5B" target="_blank">UNC5B</a>;SAVANT_INFO=+/90.3kb/17/6.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1187T>G_p.Val396Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UNC5B+c.1187T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73050759">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,12:42:15:15,0,772:15	0|0:52,7:59:82:0,82,1330:15	1|0:39,12:51:59:59,0,1041:15
10	73082563	.	A	G	10790.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Histiocytosis-lymphadenopathy_plus_syndrome|_602782_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2277257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2277257" target="_blank">rs2277257</a>;ExAC.Info.AC=53726;ExAC.Info.AN=126702;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=30025;ExAC.Info.AC_Hom=11834;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118380;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.52A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.52A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg18Gly/c.52A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373189;SAVANT_GENE=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;SAVANT_INFO=+/44.1kb/6/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.52A>G_p.Arg18Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC29A3+c.52A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73082563">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118380" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:36,33:69:99:914,0,1030:127	1|1:0,88:88:99:2976,264,0:127	0|1:23,23:46:99:680,0,699:127
10	73104056	.	A	G	31266.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Histiocytosis-lymphadenopathy_plus_syndrome|_602782_(3);dbSNP139.ID=rs2243540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243540" target="_blank">rs2243540</a>;ExAC.Info.AC=109810;ExAC.Info.AN=126704;ExAC.Info.AF=0.867;ExAC.Info.AC_Het=14154;ExAC.Info.AC_Hom=47786;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118378;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.383+8A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.384A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.384A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.384A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373189;SAVANT_GENE=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;SAVANT_INFO=+/44.1kb/6/2.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.383+8A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC29A3+c.383+8A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73104056">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118378" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3591,310,0:127	1|1:0,145:145:99:5125,435,0:127	1|1:0,109:109:99:3913,327,0:127
10	73111408	.	C	T	17098.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Histiocytosis-lymphadenopathy_plus_syndrome|_602782_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs780668;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=780668" target="_blank">rs780668</a>;ExAC.Info.AC=81054;ExAC.Info.AN=126704;ExAC.Info.AF=0.640;ExAC.Info.AC_Het=26135;ExAC.Info.AC_Hom=27454;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118379;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tTc;snpeff.Amino_Acid_Change=p.Ser158Phe/c.473C>T;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373189;SAVANT_GENE=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;SAVANT_INFO=+/44.1kb/6/2.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.473C>T_p.Ser158Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC29A3+c.473C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73111408">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118379" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:81,102:183:99:2731,0,2257:127	0|0:190,0:190:99:0,570,6595:127	1|1:0,152:152:99:5151,456,0:127
10	73115941	.	T	C	30432.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Histiocytosis-lymphadenopathy_plus_syndrome|_602782_(3);dbSNP139.ID=rs2252997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2252997" target="_blank">rs2252997</a>;ExAC.Info.AC=105108;ExAC.Info.AN=126704;ExAC.Info.AF=0.830;ExAC.Info.AC_Het=16633;ExAC.Info.AC_Hom=44215;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118381;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr238Thr/c.714T>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373189;SAVANT_GENE=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;SAVANT_INFO=+/44.1kb/6/2.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.714T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC29A3+c.714T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73115941">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118381" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:3617,244,0:127	1|1:0,85:85:99:3894,262,0:127	1|1:0,103:103:99:4680,313,0:127
10	73115942	.	G	A	30432.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Histiocytosis-lymphadenopathy_plus_syndrome|_602782_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2252996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2252996" target="_blank">rs2252996</a>;ExAC.Info.AC=104162;ExAC.Info.AN=126704;ExAC.Info.AF=0.822;ExAC.Info.AC_Het=17304;ExAC.Info.AC_Hom=43404;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118382;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.715G>A;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val239Ile/c.715G>A;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373189;SAVANT_GENE=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;SAVANT_INFO=+/44.1kb/6/2.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.715G>A_p.Val239Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC29A3+c.715G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73115942">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118382" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:3617,244,0:127	1|1:0,87:87:99:3894,262,0:127	1|1:0,104:104:99:4680,313,0:127
10	73121913	.	A	G	35433.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=452;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Histiocytosis-lymphadenopathy_plus_syndrome|_602782_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2487068;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2487068" target="_blank">rs2487068</a>;ExAC.Info.AC=104524;ExAC.Info.AN=126704;ExAC.Info.AF=0.825;ExAC.Info.AC_Het=17049;ExAC.Info.AC_Hom=43728;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118385;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.976A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile326Val/c.976A>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373189;SAVANT_GENE=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;SAVANT_INFO=+/44.1kb/6/2.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.976A>G_p.Ile326Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC29A3+c.976A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73121913">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118385" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,154:154:99:5321,463,0:127	1|1:0,190:190:99:6779,571,0:127	1|1:1,107:108:99:3628,314,0:127
10	73121945	.	T	C	43016.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=509;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Histiocytosis-lymphadenopathy_plus_syndrome|_602782_(3);dbSNP139.ID=rs1084004;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1084004" target="_blank">rs1084004</a>;ExAC.Info.AC=105191;ExAC.Info.AN=126704;ExAC.Info.AF=0.830;ExAC.Info.AC_Het=16285;ExAC.Info.AC_Hom=44446;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118375;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1008T>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly336Gly/c.1008T>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373189;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373189;SAVANT_GENE=SLC29A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC29A3" target="_blank">SLC29A3</a>;SAVANT_INFO=+/44.1kb/6/2.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1008T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC29A3+c.1008T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73121945">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118375" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,175:175:99:6305,526,0:127	1|1:0,211:211:99:7987,634,0:127	1|1:0,123:123:99:4440,370,0:127
10	73157033	.	C	CCGAGG	2198.99	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=45;MQ=70.19;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs147915565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147915565" target="_blank">rs147915565</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73157033">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,7:12:99:279,0,304:33	0|0:11,0:11:33:0,33,668:33	1|0:14,8:22:99:290,0,844:33
10	73199501	.	C	A	6698.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs4747153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4747153" target="_blank">rs4747153</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73199501">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,35:65:99:891,0,909:127	0|0:82,0:82:99:0,246,2904:127	1|1:0,64:64:99:2100,192,0:127
10	73270906	.	T	C	34108.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs3802720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802720" target="_blank">rs3802720</a>;ExAC.Info.AC=84122;ExAC.Info.AN=124980;ExAC.Info.AF=0.673;ExAC.Info.AC_Het=25684;ExAC.Info.AC_Hom=29160;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96+629A>G;snpeff.Gene_Name=CDH23-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23-AS1" target="_blank">CDH23-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428918;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val122Val/c.366T>C;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23-AS1" target="_blank">CDH23-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23-AS1" target="_blank">CDH23-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73270906">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,140:140:99:4539,421,0:127	1|1:0,191:191:99:6452,574,0:127	1|0:77,70:147:99:2074,0,2181:127
10	73270982	.	G	A	33431.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=341;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3802719;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802719" target="_blank">rs3802719</a>;ExAC.Info.AC=83718;ExAC.Info.AN=124948;ExAC.Info.AF=0.670;ExAC.Info.AC_Het=25939;ExAC.Info.AC_Hom=28814;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96+553C>T;snpeff.Gene_Name=CDH23-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23-AS1" target="_blank">CDH23-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428918;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.442G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23-AS1" target="_blank">CDH23-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly148Arg/c.442G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23-AS1" target="_blank">CDH23-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23-AS1" target="_blank">CDH23-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73270982">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:3634,253,0:127	1|1:0,164:164:99:7232,503,0:127	1|0:48,45:93:99:1685,0,1804:127
10	73270995	.	A	G	29490.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=298;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs3802718;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802718" target="_blank">rs3802718</a>;ExAC.Info.AC=83937;ExAC.Info.AN=124938;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=25788;ExAC.Info.AC_Hom=28972;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.444+11A>G;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96+540T>C;snpeff.Gene_Name=CDH23-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000428918;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73270995">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:3264,223,0:127	1|1:0,141:141:99:6330,430,0:127	1|0:42,43:85:99:1635,0,1647:127
10	73326757	.	C	T	8019.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs7087735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7087735" target="_blank">rs7087735</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.639+64C>T;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73326757">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,58:117:99:1692,0,1719:127	0|0:156,0:156:99:0,468,5327:127	1|0:63,55:118:99:1557,0,1858:127
10	73337850	.	G	A	4470.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs6480531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6480531" target="_blank">rs6480531</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.847+101G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73337850">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1493:123	0|1:27,39:66:99:1315,0,877:123	0|1:22,29:51:99:940,0,704:123
10	73377314	.	C	G	19828.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs7903772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7903772" target="_blank">rs7903772</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1149+164C>G;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73377314">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,59:125:99:1727,0,2489:127	0|1:70,82:152:99:2490,0,2595:127	1|1:0,146:146:99:5023,438,0:127
10	73377330	.	T	C	7362.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs6480536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6480536" target="_blank">rs6480536</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1149+180T>C;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73377330">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,57:110:99:1629,0,2056:127	1|0:69,58:127:99:1706,0,2718:127	0|0:122,0:122:99:0,382,5478:127
10	73434888	.	G	C	7804.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1227049;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1227049" target="_blank">rs1227049</a>;ExAC.Info.AC=25139;ExAC.Info.AN=125412;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=19219;ExAC.Info.AC_Hom=2917;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039105;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gCc;snpeff.Amino_Acid_Change=p.Gly495Ala/c.1484G>C;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73434888">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039105" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1676,153,0:127	1|0:35,24:59:99:644,0,1088:127	1|0:39,19:58:99:402,0,1112:127
10	73434906	.	G	A	3676.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10999947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10999947" target="_blank">rs10999947</a>;ExAC.Info.AC=34041;ExAC.Info.AN=125414;ExAC.Info.AF=0.271;ExAC.Info.AC_Het=24609;ExAC.Info.AC_Hom=4664;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039108;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aAc;snpeff.Amino_Acid_Change=p.Ser501Asn/c.1502G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73434906">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039108" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1723:127	0|1:23,30:53:99:880,0,632:127	0|1:16,36:52:99:978,0,342:127
10	73439101	.	T	C	33543.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs1227042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1227042" target="_blank">rs1227042</a>;ExAC.Info.AC=117364;ExAC.Info.AN=123370;ExAC.Info.AF=0.951;ExAC.Info.AC_Het=3042;ExAC.Info.AC_Hom=40958;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1768-43T>C;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73439101">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,128:128:99:4675,385,0:127	1|1:0,164:164:99:6115,493,0:127	1|1:0,95:95:99:3489,286,0:127
10	73455201	.	T	C	38385.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1158;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs3752752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3752752" target="_blank">rs3752752</a>;ExAC.Info.AC=79391;ExAC.Info.AN=125172;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=27460;ExAC.Info.AC_Hom=25881;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039126;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn777Asn/c.2331T>C;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73455201">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039126" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:187,171:358:99:4549,0,4876:127	1|1:0,404:404:99:13755,1214,0:127	0|0:394,2:396:99:0,1139,13229:127
10	73455273	.	T	C	29204.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=877;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs3752751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3752751" target="_blank">rs3752751</a>;ExAC.Info.AC=79349;ExAC.Info.AN=125118;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=27466;ExAC.Info.AC_Hom=25830;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039129;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp801Asp/c.2403T>C;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73455273">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039129" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:147,147:294:99:3931,0,4241:127	1|1:0,294:294:99:9863,883,0:127	0|0:288,1:289:99:0,833,9729:127
10	73455308	.	T	C	19717.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=560;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs3752750;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3752750" target="_blank">rs3752750</a>;ExAC.Info.AC=79227;ExAC.Info.AN=125030;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=27403;ExAC.Info.AC_Hom=25604;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2412+26T>C;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73455308">View</a>	GT:AD:DP:GQ:PL:TP	0|1:93,87:180:99:2511,0,2764:127	1|1:0,189:189:99:6505,567,0:127	0|0:191,0:191:99:0,574,7054:127
10	73483773	.	G	A	1558.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs72817951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72817951" target="_blank">rs72817951</a>;ExAC.Info.AC=2550;ExAC.Info.AN=112514;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=859;ExAC.Info.AC_Hom=22;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-5-7674C>T;snpeff.Amino_Acid_length=133;snpeff.Gene_Name=C10orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf105" target="_blank">C10orf105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3385-29G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf105" target="_blank">C10orf105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf105" target="_blank">C10orf105</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf105+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73483773">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,255,3061:127	0|0:115,0:115:99:0,346,4017:127	0|1:42,27:69:99:798,0,1281:127
10	73490310	.	G	A	2718.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41281316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41281316" target="_blank">rs41281316</a>;ExAC.Info.AC=2594;ExAC.Info.AN=125152;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2488;ExAC.Info.AC_Hom=45;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-6+7175C>T;snpeff.Amino_Acid_length=133;snpeff.Gene_Name=C10orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf105" target="_blank">C10orf105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala1227Thr/c.3679G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf105" target="_blank">C10orf105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf105" target="_blank">C10orf105</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf105+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73490310">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,279,2930:127	0|1:53,51:104:99:1378,0,1470:127	0|0:81,0:81:99:0,243,2564:127
10	73492079	.	A	G	20859.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=541;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1227065;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1227065" target="_blank">rs1227065</a>;ExAC.Info.AC=98890;ExAC.Info.AN=124604;ExAC.Info.AF=0.794;ExAC.Info.AC_Het=15853;ExAC.Info.AC_Hom=32641;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-6+5406T>C;snpeff.Amino_Acid_length=133;snpeff.Gene_Name=C10orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf105" target="_blank">C10orf105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn1356Asp/c.4066A>G;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf105" target="_blank">C10orf105</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf105" target="_blank">C10orf105</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf105+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73492079">View</a>	GT:AD:DP:GQ:PL:TP	0|1:90,91:181:99:2472,0,2479:127	1|1:1,200:201:99:6773,565,0:127	0|0:159,0:159:99:0,478,5407:127
10	73494159	.	T	A	4912.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs1227062;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1227062" target="_blank">rs1227062</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4221+61T>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-6+3326A>T;snpeff.Amino_Acid_length=133;snpeff.Gene_Name=C10orf105;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398786;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73494159">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,13:43:99:338,0,836:127	1|1:0,45:45:99:1598,135,0:127	0|0:59,0:59:99:0,177,2009:127
10	73499561	.	C	G	14003.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10762474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10762474" target="_blank">rs10762474</a>;ExAC.Info.AC=62653;ExAC.Info.AN=124776;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=28287;ExAC.Info.AC_Hom=15175;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4503+32C>G;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73499561">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,51:108:99:1473,0,1755:127	1|1:0,130:130:99:4791,391,0:127	0|0:113,0:113:99:0,340,4127:127
10	73501556	.	G	A	20680.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1227051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1227051" target="_blank">rs1227051</a>;ExAC.Info.AC=96154;ExAC.Info.AN=125516;ExAC.Info.AF=0.766;ExAC.Info.AC_Het=20928;ExAC.Info.AC_Hom=35691;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039189;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala1580Thr/c.4738G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73501556">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039189" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:82,67:149:99:1821,0,2426:127	1|1:0,203:203:99:6922,608,0:127	0|0:139,0:139:99:0,418,5148:127
10	73515103	.	G	T	1804.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs3747858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747858" target="_blank">rs3747858</a>;ExAC.Info.AC=78547;ExAC.Info.AN=126256;ExAC.Info.AF=0.622;ExAC.Info.AC_Het=25864;ExAC.Info.AC_Hom=21858;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.676+13C>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf54" target="_blank">C10orf54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4860+13425G>T;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf54" target="_blank">C10orf54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.677G>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf54" target="_blank">C10orf54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.677G>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf54" target="_blank">C10orf54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.677G>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf54" target="_blank">C10orf54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.677G>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf54" target="_blank">C10orf54</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394957;SAVANT_GENE=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf54" target="_blank">C10orf54</a>;SAVANT_INFO=-/25.9kb/7/4.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.676+13C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf54+c.676+13C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73515103">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1291:108	0|1:12,25:37:99:647,0,286:108	0|1:11,10:21:99:275,0,318:108
10	73520632	.	A	C	10030.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3747869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747869" target="_blank">rs3747869</a>;ExAC.Info.AC=112111;ExAC.Info.AN=126704;ExAC.Info.AF=0.885;ExAC.Info.AC_Het=12532;ExAC.Info.AC_Hom=49774;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4861-16805A>C;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561A>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561A>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561A>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaG;snpeff.Amino_Acid_Change=p.Asp187Glu/c.561T>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394957;SAVANT_GENE=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf54" target="_blank">C10orf54</a>;SAVANT_INFO=-/25.9kb/7/4.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.561T>G_p.Asp187Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf54+c.561T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73520632">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1290,117,0:104	1|1:0,35:35:99:1277,105,0:104	1|1:0,42:42:99:1418,126,0:104
10	73521371	.	C	T	1018.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=67;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs3747867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747867" target="_blank">rs3747867</a>;ExAC.Info.AC=27225;ExAC.Info.AN=126450;ExAC.Info.AF=0.215;ExAC.Info.AC_Het=19767;ExAC.Info.AC_Hom=2795;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4861-16066C>T;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.495C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.495C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.495C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu165Glu/c.495G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394957;SAVANT_GENE=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf54" target="_blank">C10orf54</a>;SAVANT_INFO=-/25.9kb/7/4.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.495G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf54+c.495G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73521371">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,958:78	0|1:14,10:24:99:264,0,405:78	0|1:8,9:17:99:265,0,217:78
10	73533177	.	A	G	16760.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3747862;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747862" target="_blank">rs3747862</a>;ExAC.Info.AC=46384;ExAC.Info.AN=124572;ExAC.Info.AF=0.372;ExAC.Info.AC_Het=23577;ExAC.Info.AC_Hom=8121;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4861-4260A>G;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.20A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.20A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu7Pro/c.20T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394957;SAVANT_GENE=C10orf54;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf54" target="_blank">C10orf54</a>;SAVANT_INFO=-/25.9kb/7/4.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.20T>C_p.Leu7Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf54+c.20T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73533177">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:2972,273,0:127	1|0:46,44:90:99:1235,0,1322:127	1|0:33,33:66:99:852,0,997:127
10	73537358	.	G	A	4145.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs41281328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41281328" target="_blank">rs41281328</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4861-79G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73537358">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,23:53:99:664,0,869:127	0|0:83,1:84:99:0,212,2963:127	1|0:32,35:67:99:1057,0,961:127
10	73537388	.	T	C	12448.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs7917781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7917781" target="_blank">rs7917781</a>;ExAC.Info.AC=45037;ExAC.Info.AN=119206;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=11709;ExAC.Info.AC_Hom=4492;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4861-49T>C;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73537388">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,34:72:99:933,0,1081:127	0|1:62,53:115:99:1523,0,1715:127	1|1:0,96:96:99:3235,288,0:127
10	73537614	.	G	A	3306.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17712523;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17712523" target="_blank">rs17712523</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=22452;ExAC.Info.AN=125980;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=17998;ExAC.Info.AC_Hom=2177;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000086975|RCV000039194;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val1680Ile/c.5038G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73537614">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000086975%20OR%20RCV000039194" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,361,4256:127	0|0:122,0:122:99:0,367,4345:127	0|1:58,55:113:99:1672,0,1723:127
10	73537978	.	C	T	2570.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10762480;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10762480" target="_blank">rs10762480</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=23574;ExAC.Info.AN=125262;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=18899;ExAC.Info.AC_Hom=2310;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124199|RCV000039199;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr1705Tyr/c.5115C>T;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73537978">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124199%20OR%20RCV000039199" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2507:127	0|1:44,44:88:99:1304,0,1368:127	0|0:67,0:67:99:0,201,2361:127
10	73538109	.	C	G	8690.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10740390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740390" target="_blank">rs10740390</a>;ExAC.Info.AC=49837;ExAC.Info.AN=125016;ExAC.Info.AF=0.399;ExAC.Info.AC_Het=28869;ExAC.Info.AC_Hom=9649;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5202+44C>G;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73538109">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,40:86:99:906,0,1114:127	0/1:59,68:127:99:2088,0,1645:127	0/1:63,35:98:99:854,0,1755:127
10	73538138	.	C	T	3331.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10823843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10823843" target="_blank">rs10823843</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5202+73C>T;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73538138">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,29:69:99:659,0,991:127	0|0:110,0:110:99:0,330,3568:127	1|0:53,32:85:99:686,0,1452:127
10	73544086	.	G	A	4344.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3802711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802711" target="_blank">rs3802711</a>;ExAC.Info.AC=19386;ExAC.Info.AN=125130;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=16092;ExAC.Info.AC_Hom=1639;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124200|RCV000039213;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg1809Gln/c.5426G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73544086">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124200%20OR%20RCV000039213" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,337,3768:127	0|1:59,74:133:99:2191,0,1572:127	0|0:132,0:132:99:0,397,4573:127
10	73544638	.	A	G	6780.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs2394839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2394839" target="_blank">rs2394839</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=23951;ExAC.Info.AN=125996;ExAC.Info.AF=0.190;ExAC.Info.AC_Het=18591;ExAC.Info.AC_Hom=2606;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039217;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5518-10A>G;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73544638">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039217" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:36,34:70:99:1089,0,977:127	0|0:114,0:114:99:0,342,4058:127	1|0:46,45:91:99:1407,0,1205:127
10	73550117	.	C	G	5168.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=660;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11592462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11592462" target="_blank">rs11592462</a>;ExAC.Info.AC=53178;ExAC.Info.AN=125162;ExAC.Info.AF=0.425;ExAC.Info.AC_Het=28894;ExAC.Info.AC_Hom=11872;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039232;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aGc;snpeff.Amino_Acid_Change=p.Thr2004Ser/c.6011C>G;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73550117">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039232" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:222,0:222:99:0,667,7320:127	0|0:239,0:239:99:0,717,7990:127	0|1:104,95:199:99:2603,0,2850:127
10	73550969	.	G	A	27103.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10466026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10466026" target="_blank">rs10466026</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37818;ExAC.Info.AN=125946;ExAC.Info.AF=0.300;ExAC.Info.AC_Het=25106;ExAC.Info.AC_Hom=5975;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124202|RCV000039237;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu2049Lys/c.6145G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73550969">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124202%20OR%20RCV000039237" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4136,376,0:127	1|1:0,150:150:99:5091,451,0:127	1|0:56,60:116:99:1780,0,1711:127
10	73558128	.	G	A	5868.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41281334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41281334" target="_blank">rs41281334</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Non-syndromic_autosomal_recessive_deafness;hgmd_2014.2.OMIM_ID=605516;hgmd_2014.2.PubMed=24767429;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24767429" target="_blank">24767429</a>;ExAC.Info.AC=6171;ExAC.Info.AN=125818;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5584;ExAC.Info.AC_Hom=291;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000086976|RCV000039255;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val2288Ile/c.6862G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398788;SAVANT_GENE=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=+/20.2kb/23/4.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.127G>A_p.Val43Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+c.127G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73558128">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000086976%20OR%20RCV000039255" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:31,38:69:99:1083,0,893:127	0|0:80,0:80:99:0,240,2665:127	1|0:30,43:73:99:1184,0,820:127
10	73558852	.	A	G	20022.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs4747193;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4747193" target="_blank">rs4747193</a>;ExAC.Info.AC=41774;ExAC.Info.AN=125064;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=26181;ExAC.Info.AC_Hom=7648;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039261;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7070-16A>G;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398788;SAVANT_GENE=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=+/20.2kb/23/4.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.335-16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+c.335-16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73558852">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039261" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2944,235,0:127	1|1:0,100:100:99:3782,300,0:127	1|0:49,42:91:99:1288,0,1576:127
10	73558886	.	G	A	33487.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=466;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4747194;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4747194" target="_blank">rs4747194</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=38428;ExAC.Info.AN=125080;ExAC.Info.AF=0.307;ExAC.Info.AC_Het=25623;ExAC.Info.AC_Hom=6356;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124203|RCV000039262;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg2363Gln/c.7088G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398788;SAVANT_GENE=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=+/20.2kb/23/4.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.353G>A_p.Arg118Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+c.353G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73558886">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124203%20OR%20RCV000039262" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:5095,409,0:127	1|1:0,172:172:99:6489,517,0:127	1|0:88,70:158:99:2153,0,2660:127
10	73558952	.	C	T	63747.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=1068;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4747195;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4747195" target="_blank">rs4747195</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37521;ExAC.Info.AN=125036;ExAC.Info.AF=0.300;ExAC.Info.AC_Het=25150;ExAC.Info.AC_Hom=6153;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124204|RCV000039264;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro2385Leu/c.7154C>T;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398788;SAVANT_GENE=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=+/20.2kb/23/4.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.419C>T_p.Pro140Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+c.419C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73558952">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124204%20OR%20RCV000039264" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,319:319:99:10596,957,0:127	1|1:1,425:426:99:14375,1241,0:127	1|0:182,141:323:99:4045,0,5259:127
10	73559227	.	C	T	7080.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs3802708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802708" target="_blank">rs3802708</a>;ExAC.Info.AC=14173;ExAC.Info.AN=125874;ExAC.Info.AF=0.113;ExAC.Info.AC_Het=11429;ExAC.Info.AC_Hom=1359;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7240-22C>T;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398788;SAVANT_GENE=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=+/20.2kb/23/4.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.505-22C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+c.505-22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73559227">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,48:101:99:1442,0,1653:127	0|0:123,0:123:99:0,370,4543:127	1|0:62,53:115:99:1461,0,1882:127
10	73562744	.	G	A	38345.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=540;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs10823849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10823849" target="_blank">rs10823849</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37790;ExAC.Info.AN=125128;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=25263;ExAC.Info.AC_Hom=6235;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124206|RCV000039270;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala2529Ala/c.7587G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398788;SAVANT_GENE=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=+/20.2kb/23/4.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.852G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+c.852G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73562744">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124206%20OR%20RCV000039270" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,154:154:99:5322,463,0:127	1|1:0,222:222:99:7609,667,0:127	1|0:71,93:164:99:2736,0,1826:127
10	73570334	.	G	A	22867.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=629;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs11818398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11818398" target="_blank">rs11818398</a>;ExAC.Info.AC=21126;ExAC.Info.AN=125316;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=17286;ExAC.Info.AC_Hom=1863;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124209|RCV000039304;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9092+8G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9093G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=61;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398788;SAVANT_GENE=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=+/20.2kb/23/4.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2357+8G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+c.2357+8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73570334">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124209%20OR%20RCV000039304" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:103,88:191:99:2504,0,2952:127	1|1:1,228:229:99:7836,654,0:127	0|0:208,1:209:99:0,588,7222:127
10	73571581	.	C	CCT	9940.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs140848302;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140848302" target="_blank">rs140848302</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9334+72_9334+73insCT;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=64;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000398788;SAVANT_GENE=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=+/20.2kb/23/4.3kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2599+72_2599+73insTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+c.2599+72_2599+73insTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73571581">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1568,108,0:83	1|1:0,36:36:99:1644,111,0:83	1|1:0,28:28:84:1260,84,0:83
10	73574843	.	G	A	6362.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3)|Usher_syndrome|_type_1D|_601067_(3)|_Deafness|_autosomal_recessive_12|_601386_(3)|_Usher_syndrome|_type_1D/F_digenic|_601067_(3);dbSNP139.ID=rs2290021;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2290021" target="_blank">rs2290021</a>;ExAC.Info.AC=14903;ExAC.Info.AN=125080;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=11610;ExAC.Info.AC_Hom=1260;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124210|RCV000039317;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr3296Thr/c.9888G>A;snpeff.Amino_Acid_length=3359;snpeff.Gene_Name=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224721;snpeff.Exon_Rank=69;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398788;SAVANT_GENE=CDH23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH23" target="_blank">CDH23</a>;SAVANT_INFO=+/20.2kb/23/4.3kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.3153G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDH23+c.3153G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73574843">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124210%20OR%20RCV000039317" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:30,41:71:99:1235,0,887:127	0|0:101,0:101:99:0,304,3692:127	1|0:34,53:87:99:1602,0,997:127
10	73577267	.	G	A	1609.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);dbSNP139.ID=rs4747202;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4747202" target="_blank">rs4747202</a>;ExAC.Info.AC=18485;ExAC.Info.AN=126702;ExAC.Info.AF=0.146;ExAC.Info.AC_Het=14365;ExAC.Info.AC_Hom=2041;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1546-34C>T;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1540-34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.1540-34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73577267">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,17:27:99:556,0,297:125	0|0:42,0:42:99:0,126,1561:125	1|0:15,4:19:99:114,0,505:125
10	73578503	.	G	A	30178.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);dbSNP139.ID=rs885828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=885828" target="_blank">rs885828</a>;ExAC.Info.AC=42324;ExAC.Info.AN=126686;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=26573;ExAC.Info.AC_Hom=7743;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1438-22C>T;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1432-22C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.1432-22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73578503">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,127:127:99:4353,382,0:127	1|1:0,181:181:99:6154,544,0:127	1|0:77,71:148:99:1937,0,2285:127
10	73578882	.	T	C	37246.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=557;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);dbSNP139.ID=rs4747203;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4747203" target="_blank">rs4747203</a>;ExAC.Info.AC=42581;ExAC.Info.AN=126698;ExAC.Info.AF=0.336;ExAC.Info.AC_Het=26712;ExAC.Info.AC_Hom=7715;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000080034;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1357-14A>G;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1351-14A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.1351-14A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73578882">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000080034" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,183:183:99:6068,550,0:127	1|1:0,188:188:99:6437,565,0:127	1|0:97,89:186:99:2380,0,2514:127
10	73579217	.	C	T	14424.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);dbSNP139.ID=rs11000016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11000016" target="_blank">rs11000016</a>;ExAC.Info.AC=22234;ExAC.Info.AN=126702;ExAC.Info.AF=0.175;ExAC.Info.AC_Het=18147;ExAC.Info.AC_Hom=2039;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1356+5G>A;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1357G>A;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1350+5G>A;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.1350+5G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73579217">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,56:115:99:1599,0,1582:127	1|1:0,140:140:99:4693,420,0:127	0|0:130,0:130:99:0,390,4403:127
10	73579405	.	C	T	15240.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=401;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);dbSNP139.ID=rs3747860;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747860" target="_blank">rs3747860</a>;ExAC.Info.AC=22231;ExAC.Info.AN=126704;ExAC.Info.AF=0.175;ExAC.Info.AC_Het=18135;ExAC.Info.AC_Hom=2033;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1199-26G>A;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1193-26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.1193-26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73579405">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,75:132:99:2029,0,1420:127	1|1:0,132:132:99:4546,397,0:127	0|0:136,1:137:99:0,372,4514:127
10	73579678	.	G	A	4613.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);dbSNP139.ID=rs56214505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56214505" target="_blank">rs56214505</a>;ExAC.Info.AC=1423;ExAC.Info.AN=126660;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1340;ExAC.Info.AC_Hom=19;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1012-21C>T;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1006-21C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.1006-21C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73579678">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,30:45:99:843,0,404:127	1|0:38,33:71:99:985,0,998:127	0|0:55,0:55:99:0,165,1831:127
10	73579979	.	G	A	12216.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=614;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);dbSNP139.ID=rs55829339;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55829339" target="_blank">rs55829339</a>;ExAC.Info.AC=18559;ExAC.Info.AN=126704;ExAC.Info.AF=0.146;ExAC.Info.AC_Het=14435;ExAC.Info.AC_Hom=2055;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000080033;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1011+18C>T;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1005+18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.1005+18C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73579979">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000080033" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:92,100:192:99:2721,0,2719:127	0|0:228,0:228:99:0,685,8698:127	1|0:104,90:194:99:2544,0,3161:127
10	73581560	.	A	T	24612.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=673;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);dbSNP139.ID=rs2070968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070968" target="_blank">rs2070968</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.915+73T>A;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.909+73T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.909+73T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73581560">View</a>	GT:AD:DP:GQ:PL:TP	0|1:111,105:216:99:2740,0,2992:127	1|1:0,266:266:99:8970,799,0:127	0|0:191,0:191:99:0,574,6555:127
10	73583573	.	CA	C	2043.29	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=314;MQ=69.98;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=0/1;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.778-1804delT;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.778-1810delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.778-1810delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73583573">View</a>	GT:AD:DP:GQ:PL	0/1:80,33:117:99:297,0,2139	0/1:91,20:115:99:110,0,2407	./0:38,7:82:99:594,750,2615
10	73583573	.	CA	CAA	2043.29	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=314;MQ=69.98;MQ0=0;culprit=DP;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./0;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.778-1804_778-1805insT;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.778-1810dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.778-1810dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73583573">View</a>	GT:AD:DP:GQ:PL	./0:80,4:117:99:297,542,2586	./0:91,4:115:99:110,372,2592	0/1:38,37:82:99:594,0,811
10	73585526	.	A	G	7889.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);dbSNP139.ID=rs2593163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2593163" target="_blank">rs2593163</a>;ExAC.Info.AC=21410;ExAC.Info.AN=126610;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=15710;ExAC.Info.AC_Hom=2346;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.777+68T>C;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.777+68T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.777+68T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73585526">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,57:128:99:1740,0,2243:127	0|0:116,0:116:99:0,349,4289:127	1|0:68,41:109:99:1345,0,2252:127
10	73591566	.	C	T	11123.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=536;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);dbSNP139.ID=rs12414356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12414356" target="_blank">rs12414356</a>;ExAC.Info.AC=1508;ExAC.Info.AN=126700;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1479;ExAC.Info.AC_Hom=11;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.249+37G>A;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.249+37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.249+37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73591566">View</a>	GT:AD:DP:GQ:PL:TP	1|0:83,80:163:99:2199,0,2294:127	0|0:218,0:218:99:0,651,7025:127	1|0:77,78:155:99:2368,0,2169:127
10	73610982	.	G	A	9432.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Metachromatic_leukodystrophy_due_to_SAP-b_deficiency|_249900_(3)|_Gaucher_disease|_atypical|_610539_(3)|_Combined_SAP_deficiency|_611721_(3)|_Krabbe_disease|_atypical|_611722_(3);dbSNP139.ID=rs2070188;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070188" target="_blank">rs2070188</a>;ExAC.Info.AC=3848;ExAC.Info.AN=44606;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=2460;ExAC.Info.AC_Hom=200;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=4;snpeff.Amino_Acid_Change=c.-4C>T;snpeff.Amino_Acid_length=526;snpeff.Gene_Name=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394934;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394936;SAVANT_GENE=PSAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP" target="_blank">PSAP</a>;SAVANT_INFO=-/35.1kb/14/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSAP+c.-4C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73610982">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,33:55:99:913,0,599:127	1|1:0,84:84:99:2806,252,0:127	0|0:76,0:76:99:0,228,2504:127
10	73765773	.	T	G	6868.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations|_143095_(3);dbSNP139.ID=rs11000129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11000129" target="_blank">rs11000129</a>;ExAC.Info.AC=49984;ExAC.Info.AN=126700;ExAC.Info.AF=0.395;ExAC.Info.AC_Het=28408;ExAC.Info.AC_Hom=10774;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.140+33T>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.141T>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373115;SAVANT_GENE=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;SAVANT_INFO=+/49.2kb/3/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.140+33T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST3+c.140+33T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73765773">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,35:65:99:965,0,832:127	0/1:20,29:49:99:824,0,643:127	0/1:31,26:57:99:651,0,956:127
10	73767859	.	G	A	2662.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations|_143095_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740129" target="_blank">rs3740129</a>;ExAC.Info.AC=9853;ExAC.Info.AN=43528;ExAC.Info.AF=0.226;ExAC.Info.AC_Het=3523;ExAC.Info.AC_Hom=1026;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1070G>A;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1070G>A;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg357Gln/c.1070G>A;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373115;SAVANT_GENE=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;SAVANT_INFO=+/49.2kb/3/7.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1070G>A_p.Arg357Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST3+c.1070G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73767859">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,14:28:99:438,0,408:127	0/1:18,15:33:99:475,0,572:127	0/1:17,10:27:99:316,0,571:127
10	73768295	.	G	T	3253.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations|_143095_(3);dbSNP139.ID=rs55939908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55939908" target="_blank">rs55939908</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=66;snpeff.Amino_Acid_Change=c.*66G>T;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373115;SAVANT_GENE=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;SAVANT_INFO=+/49.2kb/3/7.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*66G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST3+c.*66G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73768295">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,12:21:99:371,0,284:84	1|0:23,24:47:99:740,0,725:84	0|0:28,0:28:84:0,84,996:84
10	73769507	.	C	T	26964.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1029;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations|_143095_(3);dbSNP139.ID=rs4148943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4148943" target="_blank">rs4148943</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1278;snpeff.Amino_Acid_Change=c.*1278C>T;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373115;SAVANT_GENE=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;SAVANT_INFO=+/49.2kb/3/7.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1278C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST3+c.*1278C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73769507">View</a>	GT:AD:DP:GQ:PL:TP	0/1:162,162:324:99:4163,0,4365:127	0/1:223,205:428:99:5730,0,6234:127	0/1:170,107:277:99:2771,0,4793:127
10	73769590	.	C	T	24503.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=957;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations|_143095_(3);dbSNP139.ID=rs4148945;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4148945" target="_blank">rs4148945</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1361;snpeff.Amino_Acid_Change=c.*1361C>T;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373115;SAVANT_GENE=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;SAVANT_INFO=+/49.2kb/3/7.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1361C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST3+c.*1361C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73769590">View</a>	GT:AD:DP:GQ:PL:TP	0/1:171,142:313:99:3540,0,5121:127	0/1:204,181:385:99:4963,0,5765:127	0/1:137,122:259:99:3311,0,4304:127
10	73770073	.	C	T	8951.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations|_143095_(3);dbSNP139.ID=rs4148946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4148946" target="_blank">rs4148946</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1844;snpeff.Amino_Acid_Change=c.*1844C>T;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373115;SAVANT_GENE=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;SAVANT_INFO=+/49.2kb/3/7.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1844C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST3+c.*1844C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73770073">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,50:103:99:1322,0,1699:127	0/1:55,46:101:99:1304,0,1843:127	0/1:57,38:95:99:1070,0,1821:127
10	73770117	.	T	C	13344.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=468;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations|_143095_(3);dbSNP139.ID=rs4148947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4148947" target="_blank">rs4148947</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1888;snpeff.Amino_Acid_Change=c.*1888T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373115;SAVANT_GENE=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;SAVANT_INFO=+/49.2kb/3/7.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1888T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST3+c.*1888T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73770117">View</a>	GT:AD:DP:GQ:PL:TP	0/1:82,62:144:99:1709,0,2100:127	0/1:93,72:165:99:1965,0,2537:127	0/1:87,72:159:99:1731,0,2360:127
10	73771706	.	G	A	16597.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=568;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations|_143095_(3);dbSNP139.ID=rs4148950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4148950" target="_blank">rs4148950</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3477;snpeff.Amino_Acid_Change=c.*3477G>A;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373115;SAVANT_GENE=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;SAVANT_INFO=+/49.2kb/3/7.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*3477G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST3+c.*3477G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73771706">View</a>	GT:AD:DP:GQ:PL:TP	0/1:103,88:191:99:2285,0,2847:127	0/1:104,92:196:99:2427,0,3074:127	0/1:92,89:181:99:2339,0,2813:127
10	73772014	.	G	A	11686.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations|_143095_(3);dbSNP139.ID=rs1871450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1871450" target="_blank">rs1871450</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3785;snpeff.Amino_Acid_Change=c.*3785G>A;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373115;SAVANT_GENE=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;SAVANT_INFO=+/49.2kb/3/7.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*3785G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST3+c.*3785G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73772014">View</a>	GT:AD:DP:GQ:PL:TP	0/1:72,60:132:99:1523,0,2101:127	0/1:69,66:135:99:1976,0,1888:127	0/1:44,54:98:99:1507,0,1205:127
10	73772762	.	C	T	20304.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=669;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations|_143095_(3);dbSNP139.ID=rs730720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=730720" target="_blank">rs730720</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=4533;snpeff.Amino_Acid_Change=c.*4533C>T;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373115;SAVANT_GENE=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;SAVANT_INFO=+/49.2kb/3/7.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*4533C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST3+c.*4533C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73772762">View</a>	GT:AD:DP:GQ:PL:TP	0/1:90,84:174:99:2107,0,2541:127	0/1:134,146:280:99:3814,0,3476:127	0/1:105,110:215:99:2741,0,2724:127
10	73773014	.	G	A	23884.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=802;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations|_143095_(3);dbSNP139.ID=rs12418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12418" target="_blank">rs12418</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=4785;snpeff.Amino_Acid_Change=c.*4785G>A;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000373115;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000373115;SAVANT_GENE=CHST3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST3" target="_blank">CHST3</a>;SAVANT_INFO=+/49.2kb/3/7.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*4785G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST3+c.*4785G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73773014">View</a>	GT:AD:DP:GQ:PL:TP	0/1:123,132:255:99:3592,0,3286:127	0/1:150,146:296:99:4032,0,3947:127	0/1:134,117:251:99:3228,0,3368:127
10	73832438	.	CCT	C	3587.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10574710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10574710" target="_blank">rs10574710</a>;ExAC.Info.AC=4177;ExAC.Info.AN=120482;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=1996;ExAC.Info.AC_Hom=61;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.199-134_199-133delAG;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SPOCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPOCK2" target="_blank">SPOCK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317376;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000317376;SAVANT_GENE=SPOCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPOCK2" target="_blank">SPOCK2</a>;SAVANT_INFO=-/30.0kb/12/5.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.199-134_199-133delAG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPOCK2+c.199-134_199-133delAG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73832438">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,271,4216:127	0|0:121,0:121:99:0,364,5656:127	0|1:40,47:87:99:1817,0,1597:127
10	73832579	.	A	G	2736.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs9663960;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9663960" target="_blank">rs9663960</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.198+81T>C;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SPOCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPOCK2" target="_blank">SPOCK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317376;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317376;SAVANT_GENE=SPOCK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPOCK2" target="_blank">SPOCK2</a>;SAVANT_INFO=-/30.0kb/12/5.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.198+81T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPOCK2+c.198+81T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:73832579">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,292,3480:127	0|0:110,0:110:99:0,330,3970:127	0|1:46,41:87:99:1387,0,1403:127
10	74095715	.	T	C	6841.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3829180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829180" target="_blank">rs3829180</a>;ExAC.Info.AC=3433;ExAC.Info.AN=126702;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=3310;ExAC.Info.AC_Hom=59;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1109-26A>G;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=DNAJB12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJB12" target="_blank">DNAJB12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394903;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338820;SAVANT_GENE=DNAJB12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJB12" target="_blank">DNAJB12</a>;SAVANT_INFO=-/22.3kb/8/4.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1109-26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJB12+c.1109-26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:74095715">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,47:81:99:1231,0,946:127	1|0:44,51:95:99:1376,0,1080:127	0|0:69,0:69:99:0,207,2364:127
10	74100642	.	G	A	7202.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs9416018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9416018" target="_blank">rs9416018</a>;ExAC.Info.AC=60016;ExAC.Info.AN=126676;ExAC.Info.AF=0.474;ExAC.Info.AC_Het=26679;ExAC.Info.AC_Hom=15829;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.746-16C>T;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=DNAJB12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJB12" target="_blank">DNAJB12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394903;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338820;SAVANT_GENE=DNAJB12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJB12" target="_blank">DNAJB12</a>;SAVANT_INFO=-/22.3kb/8/4.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.746-16C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJB12+c.746-16C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:74100642">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,29:46:99:752,0,477:127	0|1:22,27:49:99:784,0,623:127	1|1:0,43:43:99:1402,129,0:127
10	74104673	.	T	A	4929.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3793834;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3793834" target="_blank">rs3793834</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.413+35A>T;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=DNAJB12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJB12" target="_blank">DNAJB12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394903;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338820;SAVANT_GENE=DNAJB12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJB12" target="_blank">DNAJB12</a>;SAVANT_INFO=-/22.3kb/8/4.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.413+35A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJB12+c.413+35A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:74104673">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,30:68:99:713,0,943:127	1|0:48,41:89:99:1158,0,1378:127	0|0:75,0:75:99:0,225,2330:127
10	74114778	.	C	T	3412.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72808155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72808155" target="_blank">rs72808155</a>;ExAC.Info.AC=4296;ExAC.Info.AN=115534;ExAC.Info.AF=0.037;ExAC.Info.AC_Het=3014;ExAC.Info.AC_Hom=146;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=21;snpeff.Amino_Acid_Change=c.-21G>A;snpeff.Amino_Acid_length=409;snpeff.Gene_Name=DNAJB12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJB12" target="_blank">DNAJB12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394903;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338820;SAVANT_GENE=DNAJB12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJB12" target="_blank">DNAJB12</a>;SAVANT_INFO=-/22.3kb/8/4.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-21G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJB12+c.-21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:74114778">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,29:52:99:769,0,667:127	1|0:27,21:48:99:565,0,752:127	0|0:43,0:43:99:0,129,1547:127
10	74268031	.	T	C	11812.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3793927;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3793927" target="_blank">rs3793927</a>;ExAC.Info.AC=59775;ExAC.Info.AN=121768;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=14374;ExAC.Info.AC_Hom=10812;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.544-4A>G;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=MICU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICU1" target="_blank">MICU1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398761;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544A>G;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=MICU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICU1" target="_blank">MICU1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398761;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361114;SAVANT_GENE=MICU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICU1" target="_blank">MICU1</a>;SAVANT_INFO=-/258.8kb/12/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.538-4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICU1+c.538-4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:74268031">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1632,135,0:127	1|1:0,58:58:99:2192,174,0:127	1|1:0,46:46:99:1733,138,0:127
10	74293584	.	A	T	21880.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10509343;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10509343" target="_blank">rs10509343</a>;ExAC.Info.AC=66230;ExAC.Info.AN=122534;ExAC.Info.AF=0.541;ExAC.Info.AC_Het=15100;ExAC.Info.AC_Hom=12477;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.494-37T>A;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=MICU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICU1" target="_blank">MICU1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398761;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361114;SAVANT_GENE=MICU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICU1" target="_blank">MICU1</a>;SAVANT_INFO=-/258.8kb/12/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.494-37T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICU1+c.494-37T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:74293584">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2573,181,0:127	1|1:0,83:83:99:3642,256,0:127	1|1:0,77:77:99:3324,238,0:127
10	74293601	.	T	A	21089.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11818304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11818304" target="_blank">rs11818304</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.494-54A>T;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=MICU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICU1" target="_blank">MICU1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398761;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361114;SAVANT_GENE=MICU1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICU1" target="_blank">MICU1</a>;SAVANT_INFO=-/258.8kb/12/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.494-54A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICU1+c.494-54A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:74293601">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2554,175,0:127	1|1:0,80:80:99:3481,244,0:127	1|1:0,70:70:99:3084,217,0:127
10	74690437	.	CT	C	1484.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs368917423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=368917423" target="_blank">rs368917423</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1467+43delT;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=OIT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OIT3" target="_blank">OIT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334011;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468delT;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=OIT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OIT3" target="_blank">OIT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334011;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468delT;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=OIT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OIT3" target="_blank">OIT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334011;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468delT;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=OIT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OIT3" target="_blank">OIT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334011;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468delT;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=OIT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OIT3" target="_blank">OIT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334011;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1468delT;snpeff.Amino_Acid_length=545;snpeff.Gene_Name=OIT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OIT3" target="_blank">OIT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334011;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000334011;SAVANT_GENE=OIT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OIT3" target="_blank">OIT3</a>;SAVANT_INFO=+/39.5kb/9/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1467+59delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OIT3+c.1467+59delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:74690437">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,13:31:99:168,0,272:127	0/1:19,22:41:99:318,0,254:127	0/1:22,18:40:99:149,0,396:127
10	74881951	.	G	A	10577.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=600;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34284214;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34284214" target="_blank">rs34284214</a>;ExAC.Info.AC=3742;ExAC.Info.AN=126700;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3536;ExAC.Info.AC_Hom=101;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGt/gAt;snpeff.Amino_Acid_Change=p.Gly81Asp/c.242G>A;snpeff.Amino_Acid_length=352;snpeff.Gene_Name=NUDT13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT13" target="_blank">NUDT13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357321;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357321;SAVANT_GENE=NUDT13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUDT13" target="_blank">NUDT13</a>;SAVANT_INFO=+/21.4kb/9/2.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.242G>A_p.Gly81Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUDT13+c.242G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:74881951">View</a>	GT:AD:DP:GQ:PL:TP	1|0:106,66:172:99:1677,0,2811:127	0|0:220,0:220:99:0,661,7759:127	1|0:118,90:208:99:2197,0,3204:127
10	74906122	.	TA	T	93.78	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=361;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1042-4delT;snpeff.Amino_Acid_length=677;snpeff.Gene_Name=ECD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECD" target="_blank">ECD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000430082;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1042delT;snpeff.Amino_Acid_length=677;snpeff.Gene_Name=ECD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECD" target="_blank">ECD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000430082;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000430082;SAVANT_GENE=ECD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECD" target="_blank">ECD</a>;SAVANT_INFO=-/33.6kb/15/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1042-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECD+c.1042-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:74906122">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,6:97:99:0,136,2206:19	0|1:126,20:146:70:70,0,2815:19	0|0:104,14:118:19:0,19,2384:19
10	75519322	.	T	C	10407.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10740418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740418" target="_blank">rs10740418</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.309-58T>C;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=SEC24C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC24C" target="_blank">SEC24C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339365;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339365;SAVANT_GENE=SEC24C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC24C" target="_blank">SEC24C</a>;SAVANT_INFO=+/27.8kb/24/4.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.309-58T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC24C+c.309-58T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75519322">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,48:111:99:1293,0,1588:127	0/1:61,57:118:99:1551,0,1748:127	0/1:48,49:97:99:1456,0,1309:127
10	75525999	.	A	G	8694.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3849969;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3849969" target="_blank">rs3849969</a>;ExAC.Info.AC=78484;ExAC.Info.AN=126668;ExAC.Info.AF=0.620;ExAC.Info.AC_Het=25781;ExAC.Info.AC_Hom=26015;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1607+31A>G;snpeff.Amino_Acid_length=1094;snpeff.Gene_Name=SEC24C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC24C" target="_blank">SEC24C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339365;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339365;SAVANT_GENE=SEC24C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC24C" target="_blank">SEC24C</a>;SAVANT_INFO=+/27.8kb/24/4.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1607+31A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC24C+c.1607+31A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75525999">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,39:82:99:1174,0,1180:127	0/1:54,49:103:99:1383,0,1620:127	0/1:36,38:74:99:1223,0,1015:127
10	75558867	.	G	A	9997.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2271271;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271271" target="_blank">rs2271271</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=77363;ExAC.Info.AN=125158;ExAC.Info.AF=0.618;ExAC.Info.AC_Het=25509;ExAC.Info.AC_Hom=25534;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.118-1021C>T;snpeff.Gene_Name=ZSWIM8-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSWIM8-AS1" target="_blank">ZSWIM8-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456638;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*1433-1050C>T;snpeff.Gene_Name=RP11-574K11.31;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSWIM8-AS1" target="_blank">ZSWIM8-AS1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000603027;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu1428Leu/c.4284G>A;snpeff.Amino_Acid_length=1842;snpeff.Gene_Name=ZSWIM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZSWIM8-AS1" target="_blank">ZSWIM8-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398706;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398706;SAVANT_GENE=KIAA0913;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0913" target="_blank">KIAA0913</a>;SAVANT_INFO=+/16.1kb/26/6.0kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.4284G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA0913+c.4284G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75558867">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,43:84:99:1128,0,1241:127	0/1:38,54:92:99:1578,0,1081:127	0/1:36,54:90:99:1638,0,1091:127
10	75562161	.	C	A	6038.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs13013;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13013" target="_blank">rs13013</a>;ExAC.Info.AC=58598;ExAC.Info.AN=126580;ExAC.Info.AF=0.463;ExAC.Info.AC_Het=26783;ExAC.Info.AC_Hom=14830;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=48;snpeff.Amino_Acid_Change=c.*48G>T;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDST2" target="_blank">NDST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=312;snpeff.Amino_Acid_Change=n.*312G>T;snpeff.Gene_Name=RP11-574K11.31;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDST2" target="_blank">NDST2</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000603027;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309979;SAVANT_GENE=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDST2" target="_blank">NDST2</a>;SAVANT_INFO=-/9.7kb/15/3.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*48G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NDST2+c.*48G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75562161">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,26:49:99:637,0,677:127	0/1:31,38:69:99:1046,0,816:127	0/1:24,22:46:99:648,0,770:127
10	75563289	.	T	C	4242.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=187;MQ=72.31;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs200624600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200624600" target="_blank">rs200624600</a>;ExAC.Info.AC=10994;ExAC.Info.AN=126650;ExAC.Info.AF=0.087;ExAC.Info.AC_Het=10318;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2142+43A>G;snpeff.Gene_Name=RP11-574K11.31;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000603027;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2142+43A>G;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143T>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309979;SAVANT_GENE=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDST2" target="_blank">NDST2</a>;SAVANT_INFO=-/9.7kb/15/3.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2142+43A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NDST2+c.2142+43A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75563289">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,27:64:99:596,0,2763:127	0/1:38,30:68:99:650,0,2858:127	0/1:31,24:55:99:581,0,2503:127
10	75563296	.	A	C	3958.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.93;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=5952;ExAC.Info.AN=126468;ExAC.Info.AF=0.047;ExAC.Info.AC_Het=5683;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2142+36T>G;snpeff.Gene_Name=RP11-574K11.31;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000603027;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2142+36T>G;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309979;SAVANT_GENE=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDST2" target="_blank">NDST2</a>;SAVANT_INFO=-/9.7kb/15/3.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2142+36T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NDST2+c.2142+36T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75563296">View</a>	GT:AD:DP:GQ:PL:TP	0/1:45,7:52:99:521,0,3286:127	0/1:42,12:54:99:622,0,3078:127	0/1:36,9:45:99:545,0,2997:127
10	75563297	.	A	C	3843.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=152;MQ=70.82;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=5115;ExAC.Info.AN=126462;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=5099;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2142+35T>G;snpeff.Gene_Name=RP11-574K11.31;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000603027;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2142+35T>G;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-sulfotransferase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143A>C;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309979;SAVANT_GENE=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDST2" target="_blank">NDST2</a>;SAVANT_INFO=-/9.7kb/15/3.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.2142+35T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NDST2+c.2142+35T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75563297">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,5:53:99:474,0,3292:127	0/1:43,10:53:99:608,0,3083:127	0/1:39,7:46:99:538,0,2999:127
10	75564660	.	AT	A	1086.29	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs75244951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75244951" target="_blank">rs75244951</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1747-34delA;snpeff.Gene_Name=RP11-574K11.31;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000603027;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1747-34delA;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-deacetylase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-deacetylase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-deacetylase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-deacetylase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-deacetylase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-deacetylase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Heparan_sulfate_N-deacetylase_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1747delT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-574K1131" target="_blank">RP11-574K1131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000309979;SAVANT_GENE=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDST2" target="_blank">NDST2</a>;SAVANT_INFO=-/9.7kb/15/3.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1747-34delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NDST2+c.1747-34delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75564660">View</a>	GT:AD:DP:GQ:PL:TP	0/1:85,21:106:99:102,0,1617:98	0/1:119,29:148:99:160,0,2297:98	0/1:83,18:101:99:102,0,1577:98
10	75568311	.	TAG	T	16810.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs144390797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144390797" target="_blank">rs144390797</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=166;snpeff.Amino_Acid_Change=c.-167_-168delCT;snpeff.Amino_Acid_length=883;snpeff.Gene_Name=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDST2" target="_blank">NDST2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309979;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=166;snpeff.Amino_Acid_Change=n.-167_-168delCT;snpeff.Gene_Name=RP11-574K11.31;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDST2" target="_blank">NDST2</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000603027;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000309979;SAVANT_GENE=NDST2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NDST2" target="_blank">NDST2</a>;SAVANT_INFO=-/9.7kb/15/3.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-167_-166delCT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NDST2+c.-167_-166delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75568311">View</a>	GT:AD:DP:GQ:PL:TP	0/1:50,44:94:99:1671,0,2064:127	0/1:60,76:136:99:2897,0,2362:127	0/1:54,63:117:99:2453,0,2197:127
10	75607168	.	T	C	6487.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2242258;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2242258" target="_blank">rs2242258</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.697-63A>G;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322680;SAVANT_GENE=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;SAVANT_INFO=-/62.1kb/21/3.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.697-63A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMK2G+c.697-63A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75607168">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,16:46:99:467,0,916:127	0/1:31,42:73:99:1189,0,896:127	0/1:22,23:45:99:746,0,721:127
10	75612881	.	T	C	7407.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2250140;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2250140" target="_blank">rs2250140</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.275+69A>G;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276T>C;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322680;SAVANT_GENE=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;SAVANT_INFO=-/62.1kb/21/3.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.275+69A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMK2G+c.275+69A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75612881">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,44:65:99:1274,0,532:127	0/1:32,39:71:99:1245,0,949:127	0/1:19,31:50:99:998,0,540:127
10	75632760	.	C	T	6308.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2675671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2675671" target="_blank">rs2675671</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=55046;ExAC.Info.AN=126704;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=27723;ExAC.Info.AC_Hom=13655;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.147C>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.147C>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.147C>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.147C>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.147C>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.147C>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.147C>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.147C>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.147C>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.147C>T;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys49Lys/c.147G>A;snpeff.Amino_Acid_length=588;snpeff.Gene_Name=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423381;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322680;SAVANT_GENE=CAMK2G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAMK2G" target="_blank">CAMK2G</a>;SAVANT_INFO=-/62.1kb/21/3.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.147G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAMK2G+c.147G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75632760">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,41:70:99:1129,0,857:127	0/1:71,39:110:99:955,0,1980:127	0/1:31,25:56:99:644,0,904:127
10	75671356	.	G	T	13475.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=492;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2227580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227580" target="_blank">rs2227580</a>;ExAC.Info.AC=1377;ExAC.Info.AN=126664;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1336;ExAC.Info.AC_Hom=15;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=87;snpeff.Amino_Acid_Change=c.*87C>A;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=C10orf55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55" target="_blank">C10orf55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409178;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ttg;snpeff.Amino_Acid_Change=p.Val15Leu/c.43G>T;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55" target="_blank">C10orf55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372764;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409178:ENST00000372764;SAVANT_GENE=C10orf55:PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55:PLAU" target="_blank">C10orf55:PLAU</a>;SAVANT_INFO=-/12.8kb/5/2.5kb:+/6.3kb/11/2.3kb;SAVANT_LOC=3UTR:Ex2;SAVANT_HGVS=c.*87C>A:c.43G>T_p.Val15Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=3PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf55:PLAU+c.*87C>A:c.43G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75671356">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,89:157:99:2482,0,1570:127	1|0:102,106:208:99:2870,0,2533:127	0|0:127,0:127:99:0,382,4306:127
10	75673101	.	T	C	9165.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2227564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227564" target="_blank">rs2227564</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Alzheimer_disease|_late_onset|_protection_against;hgmd_2014.2.OMIM_ID=191840;hgmd_2014.2.PubMed=12898287;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12898287" target="_blank">12898287</a>;ExAC.Info.AC=95415;ExAC.Info.AN=126704;ExAC.Info.AF=0.753;ExAC.Info.AC_Het=22422;ExAC.Info.AC_Hom=36486;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-73-268A>G;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=C10orf55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55" target="_blank">C10orf55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409178;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu141Pro/c.422T>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55" target="_blank">C10orf55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372764;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409178:ENST00000372764;SAVANT_GENE=C10orf55:PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55:PLAU" target="_blank">C10orf55:PLAU</a>;SAVANT_INFO=-/12.8kb/5/2.5kb:+/6.3kb/11/2.3kb;SAVANT_LOC=5UTR:Ex6;SAVANT_HGVS=c.-1099A>G:c.422T>C_p.Leu141Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf55:PLAU+c.-1099A>G:c.422T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75673101">View</a>	GT:AD:DP:GQ:PL:TP	0/1:67,35:102:99:865,0,1959:127	0/1:72,48:120:99:1233,0,2023:127	0/1:44,41:85:99:1088,0,1263:127
10	75673731	.	C	T	2240.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2227566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227566" target="_blank">rs2227566</a>;ExAC.Info.AC=57775;ExAC.Info.AN=126694;ExAC.Info.AF=0.456;ExAC.Info.AC_Het=28251;ExAC.Info.AC_Hom=14710;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681-7C>T;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLAU" target="_blank">PLAU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372764;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-73-898G>A;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=C10orf55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLAU" target="_blank">PLAU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409178;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681C>T;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLAU" target="_blank">PLAU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372764;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409178:ENST00000372764;SAVANT_GENE=C10orf55:PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55:PLAU" target="_blank">C10orf55:PLAU</a>;SAVANT_INFO=-/12.8kb/5/2.5kb:+/6.3kb/11/2.3kb;SAVANT_LOC=5UTR:In7/8;SAVANT_HGVS=c.-1729G>A:c.681-7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SS;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf55:PLAU+c.-1729G>A:c.681-7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75673731">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,303,3732:127	0|0:139,0:139:99:0,417,4833:127	0|1:55,41:96:99:1139,0,1723:127
10	75675086	.	T	C	4084.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72816325;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72816325" target="_blank">rs72816325</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=499;ExAC.Info.AN=126704;ExAC.Info.AF=3.938e-03;ExAC.Info.AC_Het=497;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-74+1191A>G;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=C10orf55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55" target="_blank">C10orf55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409178;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Cac;snpeff.Amino_Acid_Change=p.Tyr350His/c.1048T>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55" target="_blank">C10orf55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372764;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409178:ENST00000372764;SAVANT_GENE=C10orf55:PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55:PLAU" target="_blank">C10orf55:PLAU</a>;SAVANT_INFO=-/12.8kb/5/2.5kb:+/6.3kb/11/2.3kb;SAVANT_LOC=5UTR:Ex10;SAVANT_HGVS=c.-3084A>G:c.1048T>C_p.Tyr350His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf55:PLAU+c.-3084A>G:c.1048T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75675086">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,312,3399:127	0|0:133,0:133:99:0,399,4690:127	0|1:41,67:108:99:2061,0,1142:127
10	75675219	.	T	C	9464.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2227583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227583" target="_blank">rs2227583</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1119+62T>C;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLAU" target="_blank">PLAU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372764;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-74+1058A>G;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=C10orf55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLAU" target="_blank">PLAU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409178;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409178:ENST00000372764;SAVANT_GENE=C10orf55:PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55:PLAU" target="_blank">C10orf55:PLAU</a>;SAVANT_INFO=-/12.8kb/5/2.5kb:+/6.3kb/11/2.3kb;SAVANT_LOC=5UTR:In10/11;SAVANT_HGVS=c.-3217A>G:c.1119+62T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf55:PLAU+c.-3217A>G:c.1119+62T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75675219">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,64:120:99:1781,0,1359:127	1|0:79,75:154:99:2167,0,2278:127	0|0:120,0:120:99:0,360,3931:127
10	75676464	.	C	T	14321.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=463;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4065;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4065" target="_blank">rs4065</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-196-65G>A;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=C10orf55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55" target="_blank">C10orf55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409178;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=141;snpeff.Amino_Acid_Change=c.*141C>T;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55" target="_blank">C10orf55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372764;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409178:ENST00000372764;SAVANT_GENE=C10orf55:PLAU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf55:PLAU" target="_blank">C10orf55:PLAU</a>;SAVANT_INFO=-/12.8kb/5/2.5kb:+/6.3kb/11/2.3kb;SAVANT_LOC=5UTR:3UTR;SAVANT_HGVS=c.-4462G>A:c.*141C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf55:PLAU+c.-4462G>A:c.*141C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75676464">View</a>	GT:AD:DP:GQ:PL:TP	0/1:72,68:140:99:1820,0,2047:127	0/1:87,84:171:99:2361,0,2468:127	0/1:84,68:152:99:1964,0,2316:127
10	75842152	.	G	A	1914.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1W|_611407_(3)|_Cardiomyopathy|_familial_hypertrophic|_15|_613255_(3);dbSNP139.ID=rs2270548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270548" target="_blank">rs2270548</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.784-60G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.784G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000211998;SAVANT_GENE=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;SAVANT_INFO=+/122.0kb/22/5.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.784-60G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VCL+c.784-60G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75842152">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2276:127	0|1:43,34:77:99:976,0,1224:127	0|0:62,0:62:99:0,186,2044:127
10	75843100	.	T	A	28866.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=697;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1W|_611407_(3)|_Cardiomyopathy|_familial_hypertrophic|_15|_613255_(3);dbSNP139.ID=rs1908339;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1908339" target="_blank">rs1908339</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Cardiomyopathy|_dilated;hgmd_2014.2.OMIM_ID=193065;hgmd_2014.2.PubMed=20474083;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=20474083" target="_blank">20474083</a>;ExAC.Info.AC=81738;ExAC.Info.AN=126704;ExAC.Info.AF=0.645;ExAC.Info.AC_Het=26108;ExAC.Info.AC_Hom=27783;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.875-24T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" 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target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:3_X_112_AA_tandem_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000211998;SAVANT_GENE=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;SAVANT_INFO=+/122.0kb/22/5.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.875-24T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VCL+c.875-24T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75843100">View</a>	GT:AD:DP:GQ:PL:TP	1|0:108,100:208:99:2744,0,2968:127	0|1:138,133:271:99:3876,0,3940:127	1|1:0,218:218:99:7457,655,0:127
10	75863750	.	C	T	26134.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1W|_611407_(3)|_Cardiomyopathy|_familial_hypertrophic|_15|_613255_(3);dbSNP139.ID=rs2270552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270552" target="_blank">rs2270552</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2131+64C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2132C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000211998;SAVANT_GENE=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;SAVANT_INFO=+/122.0kb/22/5.5kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2131+64C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VCL+c.2131+64C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75863750">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,142:142:99:4960,426,0:127	1|0:72,70:142:99:2140,0,2038:127	1|1:0,157:157:99:5350,471,0:127
10	75865065	.	G	A	40762.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=665;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1W|_611407_(3)|_Cardiomyopathy|_familial_hypertrophic|_15|_613255_(3);dbSNP139.ID=rs767809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=767809" target="_blank">rs767809</a>;ExAC.Info.AC=60342;ExAC.Info.AN=126704;ExAC.Info.AF=0.476;ExAC.Info.AC_Het=28602;ExAC.Info.AC_Hom=15849;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro796Pro/c.2388G>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000211998;SAVANT_GENE=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;SAVANT_INFO=+/122.0kb/22/5.5kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2388G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VCL+c.2388G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75865065">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,202:202:99:6785,607,0:127	1|0:121,124:245:99:3628,0,3399:127	1|1:0,218:218:99:7660,655,0:127
10	75866929	.	C	A	33309.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=530;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1W|_611407_(3)|_Cardiomyopathy|_familial_hypertrophic|_15|_613255_(3);dbSNP139.ID=rs2131957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2131957" target="_blank">rs2131957</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2435-59C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_globular_head];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2435C>A;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000211998;SAVANT_GENE=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;SAVANT_INFO=+/122.0kb/22/5.5kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2435-59C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VCL+c.2435-59C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75866929">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,167:167:99:5438,502,0:127	1|0:85,121:206:99:3300,0,2499:127	1|1:0,157:157:99:5077,471,0:127
10	75871735	.	C	G	40009.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=585;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1W|_611407_(3)|_Cardiomyopathy|_familial_hypertrophic|_15|_613255_(3);dbSNP139.ID=rs2131956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2131956" target="_blank">rs2131956</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=85192;ExAC.Info.AN=126704;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=25879;ExAC.Info.AC_Hom=29644;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126283|RCV000038817;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2814C>G;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2814C>G;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2814C>G;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2814C>G;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2814C>G;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggG;snpeff.Amino_Acid_Change=p.Gly938Gly/c.2814C>G;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000211998;SAVANT_GENE=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;SAVANT_INFO=+/122.0kb/22/5.5kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2814C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VCL+c.2814C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75871735">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126283%20OR%20RCV000038817" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,190:190:99:6858,571,0:127	1|0:96,110:206:99:3533,0,3054:127	1|1:0,189:189:99:7137,568,0:127
10	75873892	.	C	T	23692.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=399;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1W|_611407_(3)|_Cardiomyopathy|_familial_hypertrophic|_15|_613255_(3);dbSNP139.ID=rs10824072;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10824072" target="_blank">rs10824072</a>;ExAC.Info.AC=63544;ExAC.Info.AN=126668;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=29286;ExAC.Info.AC_Hom=16223;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2950-50C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2950C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2950C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2950C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2950C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C-terminal_tail];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2950C>T;snpeff.Amino_Acid_length=1134;snpeff.Gene_Name=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000211998;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000211998;SAVANT_GENE=VCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VCL" target="_blank">VCL</a>;SAVANT_INFO=+/122.0kb/22/5.5kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2950-50C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VCL+c.2950-50C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75873892">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,121:121:99:3840,363,0:127	1|0:79,91:170:99:2467,0,2228:127	1|1:0,108:108:99:3804,325,0:127
10	75889760	.	GA	G	20147.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=400;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs35456205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35456205" target="_blank">rs35456205</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.584-11delT;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=AP3M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP3M1" target="_blank">AP3M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372745;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.584delA;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=AP3M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP3M1" target="_blank">AP3M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372745;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.584delA;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=AP3M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP3M1" target="_blank">AP3M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372745;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.584delA;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=AP3M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP3M1" target="_blank">AP3M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372745;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.584delA;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=AP3M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP3M1" target="_blank">AP3M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372745;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.584delA;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=AP3M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP3M1" target="_blank">AP3M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372745;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:MHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.584delA;snpeff.Amino_Acid_length=418;snpeff.Gene_Name=AP3M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP3M1" target="_blank">AP3M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372745;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000355264;SAVANT_GENE=AP3M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP3M1" target="_blank">AP3M1</a>;SAVANT_INFO=-/29.3kb/9/3.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.584-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP3M1+c.584-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75889760">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,110:111:99:3060,305,0:127	1|0:79,68:147:99:1501,0,1764:127	1|1:0,142:142:99:4022,426,0:127
10	75910955	.	G	C	464.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=64;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hypermethioninemia_due_to_adenosine_kinase_deficiency|_614300_(3);dbSNP139.ID=rs11817132;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11817132" target="_blank">rs11817132</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11817132" target="_blank">rs11817132</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75910955">View</a>	GT:AD:DP:GQ:PL:TP	0|0:22,0:22:66:0,66,813:65	0|1:8,10:18:99:251,0,217:65	0|0:24,0:24:72:0,72,829:65
10	75936611	.	C	T	24926.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Hypermethioninemia_due_to_adenosine_kinase_deficiency|_614300_(3);dbSNP139.ID=rs10824095;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10824095" target="_blank">rs10824095</a>;ExAC.Info.AC=85132;ExAC.Info.AN=125854;ExAC.Info.AF=0.676;ExAC.Info.AC_Het=24283;ExAC.Info.AC_Hom=28620;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66-23911C>T;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=ADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADK" target="_blank">ADK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000286621;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000286621;SAVANT_GENE=ADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADK" target="_blank">ADK</a>;SAVANT_INFO=+/557.2kb/11/1.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.66-23911C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADK+c.66-23911C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75936611">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:2790,258,0:127	1|0:56,65:121:99:1833,0,1757:127	1|1:0,92:92:99:3131,276,0:127
10	75960470	.	A	G	6450.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hypermethioninemia_due_to_adenosine_kinase_deficiency|_614300_(3);dbSNP139.ID=rs72816389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72816389" target="_blank">rs72816389</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66-52A>G;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=ADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADK" target="_blank">ADK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000286621;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000286621;SAVANT_GENE=ADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADK" target="_blank">ADK</a>;SAVANT_INFO=+/557.2kb/11/1.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.66-52A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADK+c.66-52A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:75960470">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,50:105:99:1448,0,1726:127	1|0:63,60:123:99:1785,0,1960:127	0|0:119,0:119:99:0,358,4536:127
10	76285223	.	TTTTG	T	6070.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hypermethioninemia_due_to_adenosine_kinase_deficiency|_614300_(3);dbSNP139.ID=rs147013045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147013045" target="_blank">rs147013045</a>;ExAC.Info.AC=6955;ExAC.Info.AN=126538;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=6309;ExAC.Info.AC_Hom=297;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.726+40_726+43delTTTG;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=ADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADK" target="_blank">ADK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000286621;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.290+2297_290+2300delCAAA;snpeff.Gene_Name=RP11-46O21.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADK" target="_blank">ADK</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000448214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.727_730delTTTG;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=ADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADK" target="_blank">ADK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000286621;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.727_730delTTTG;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=ADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADK" target="_blank">ADK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000286621;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000286621;SAVANT_GENE=ADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADK" target="_blank">ADK</a>;SAVANT_INFO=+/557.2kb/11/1.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.726+47_726+50delGTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADK+c.726+47_726+50delGTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76285223">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,44:84:99:1707,0,2144:127	1|0:56,42:98:99:1572,0,3034:127	0|0:93,0:93:99:0,278,5485:127
10	76429870	.	T	C	21401.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=538;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hypermethioninemia_due_to_adenosine_kinase_deficiency|_614300_(3);dbSNP139.ID=rs10740443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10740443" target="_blank">rs10740443</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.878-71T>C;snpeff.Amino_Acid_length=362;snpeff.Gene_Name=ADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADK" target="_blank">ADK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000286621;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000286621;SAVANT_GENE=ADK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADK" target="_blank">ADK</a>;SAVANT_INFO=+/557.2kb/11/1.2kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.878-71T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADK+c.878-71T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76429870">View</a>	GT:AD:DP:GQ:PL:TP	0|1:69,89:158:99:2715,0,1836:127	1|1:0,201:201:99:7034,604,0:127	0|0:179,0:179:99:0,538,6324:127
10	76602990	.	C	T	2782.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=SBBYSS_syndrome|_603736_(3)|_Genitopatellar_syndrome|_606170_(3);dbSNP139.ID=rs41314998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41314998" target="_blank">rs41314998</a>;ExAC.Info.AC=295;ExAC.Info.AN=126704;ExAC.Info.AF=2.328e-03;ExAC.Info.AC_Het=287;ExAC.Info.AC_Hom=4;snpeff.Effect=sequence_feature[domain:H15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375C>T;snpeff.Amino_Acid_length=2073;snpeff.Gene_Name=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAT6B" target="_blank">KAT6B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser125Ser/c.375C>T;snpeff.Amino_Acid_length=2073;snpeff.Gene_Name=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAT6B" target="_blank">KAT6B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287239;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287239;SAVANT_GENE=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAT6B" target="_blank">KAT6B</a>;SAVANT_INFO=+/206.0kb/18/8.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.375C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAT6B+c.375C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76602990">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,2993:127	0|0:87,0:87:99:0,261,3070:127	0|1:41,47:88:99:1410,0,1245:127
10	76781905	.	GGAA	G	8403.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=772;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=SBBYSS_syndrome|_603736_(3)|_Genitopatellar_syndrome|_606170_(3);dbSNP139.ID=rs71929101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71929101" target="_blank">rs71929101</a>;cosmic68.Histology_subtype=ductal_carcinoma;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.65+2960_65+2962delTTC;snpeff.Gene_Name=RP11-77G23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-77G232" target="_blank">RP11-77G232</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413431;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Poly-Glu];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3289_3291delGAA;snpeff.Amino_Acid_length=2073;snpeff.Gene_Name=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-77G232" target="_blank">RP11-77G232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287239;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gaa/;snpeff.Amino_Acid_Change=p.Glu1097del/c.3289_3291delGAA;snpeff.Amino_Acid_length=2073;snpeff.Gene_Name=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-77G232" target="_blank">RP11-77G232</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287239;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000287239;SAVANT_GENE=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAT6B" target="_blank">KAT6B</a>;SAVANT_INFO=+/206.0kb/18/8.3kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.3310_3312delGAA_p.Glu1104del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAT6B+c.3310_3312delGAA+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76781905">View</a>	GT:AD:DP:GQ:PL:TP	0|0:254,0:254:99:0,762,11227:127	0|0:269,0:269:99:0,807,11956:127	0|1:137,112:249:99:4225,0,5327:127
10	76789417	.	G	A	8868.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1054;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=SBBYSS_syndrome|_603736_(3)|_Genitopatellar_syndrome|_606170_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|D|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|D|D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs72803461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72803461" target="_blank">rs72803461</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=302;ExAC.Info.AN=126704;ExAC.Info.AF=2.384e-03;ExAC.Info.AC_Het=294;ExAC.Info.AC_Hom=4;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4835G>A;snpeff.Amino_Acid_length=2073;snpeff.Gene_Name=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAT6B" target="_blank">KAT6B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287239;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_RUNX1_and_RUNX2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4835G>A;snpeff.Amino_Acid_length=2073;snpeff.Gene_Name=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAT6B" target="_blank">KAT6B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287239;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg1612His/c.4835G>A;snpeff.Amino_Acid_length=2073;snpeff.Gene_Name=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAT6B" target="_blank">KAT6B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287239;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287239;SAVANT_GENE=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAT6B" target="_blank">KAT6B</a>;SAVANT_INFO=+/206.0kb/18/8.3kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.4835G>A_p.Arg1612His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAT6B+c.4835G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76789417">View</a>	GT:AD:DP:GQ:PL:TP	0|0:332,0:332:99:0,998,11680:127	0|0:391,0:391:99:0,1174,13625:127	0|1:172,159:331:99:4345,0,5169:127
10	76790935	.	TA	T	2125.05	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=SBBYSS_syndrome|_603736_(3)|_Genitopatellar_syndrome|_606170_(3);dbSNP139.ID=rs3832681;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3832681" target="_blank">rs3832681</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=132;snpeff.Amino_Acid_Change=c.*132delA;snpeff.Amino_Acid_length=2073;snpeff.Gene_Name=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAT6B" target="_blank">KAT6B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287239;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000287239;SAVANT_GENE=KAT6B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAT6B" target="_blank">KAT6B</a>;SAVANT_INFO=+/206.0kb/18/8.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*144delA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAT6B+c.*144delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76790935">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,10:77:19:19,0,1523:18	0|0:75,8:83:35:0,35,1730:18	1|0:34,49:83:99:983,0,645:18
10	76803567	.	T	G	934.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16931938;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16931938" target="_blank">rs16931938</a>;ExAC.Info.AC=17997;ExAC.Info.AN=126644;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=12328;ExAC.Info.AC_Hom=2775;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.409T>G;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=DUPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUPD1" target="_blank">DUPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.409T>G;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=DUPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUPD1" target="_blank">DUPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338487;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.409T>G;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=DUPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUPD1" target="_blank">DUPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338487;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Cgc;snpeff.Amino_Acid_Change=p.Ser137Arg/c.409A>C;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=DUPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUPD1" target="_blank">DUPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338487;SAVANT_GENE=DUPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUPD1" target="_blank">DUPD1</a>;SAVANT_INFO=-/20.7kb/3/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.409A>C_p.Ser137Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUPD1+c.409A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76803567">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1310:104	0|0:40,0:40:99:0,120,1298:104	0|1:22,18:40:99:486,0,619:104
10	76854564	.	C	T	14244.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3088142;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3088142" target="_blank">rs3088142</a>;ExAC.Info.AC=65673;ExAC.Info.AN=126696;ExAC.Info.AF=0.518;ExAC.Info.AC_Het=28341;ExAC.Info.AC_Hom=18521;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tAt;snpeff.Amino_Acid_Change=p.Cys292Tyr/c.875G>A;snpeff.Amino_Acid_length=334;snpeff.Gene_Name=DUSP13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP13" target="_blank">DUSP13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000478873;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394707;SAVANT_GENE=DUSP13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP13" target="_blank">DUSP13</a>;SAVANT_INFO=-/14.6kb/6/1.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.746G>A_p.Cys249Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP13+c.746G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76854564">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,35:94:99:829,0,1758:127	1|1:0,121:121:99:4022,364,0:127	0|1:53,42:95:99:1000,0,1384:127
10	76855412	.	G	A	12182.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3740317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740317" target="_blank">rs3740317</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=42986;ExAC.Info.AN=126704;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=26476;ExAC.Info.AC_Hom=8254;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp241Asp/c.723C>T;snpeff.Amino_Acid_length=334;snpeff.Gene_Name=DUSP13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP13" target="_blank">DUSP13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000478873;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394707;SAVANT_GENE=DUSP13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP13" target="_blank">DUSP13</a>;SAVANT_INFO=-/14.6kb/6/1.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.594C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP13+c.594C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76855412">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,39:72:99:1098,0,886:127	1|1:0,93:93:99:3209,278,0:127	0|1:32,31:63:99:978,0,859:127
10	76861680	.	T	C	5069.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6480771;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6480771" target="_blank">rs6480771</a>;ExAC.Info.AC=67031;ExAC.Info.AN=126704;ExAC.Info.AF=0.529;ExAC.Info.AC_Het=28057;ExAC.Info.AC_Hom=19484;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SAMD8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD8" target="_blank">SAMD8</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DUSP13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD8" target="_blank">SAMD8</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394707;SAVANT_GENE=DUSP13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP13" target="_blank">DUSP13</a>;SAVANT_INFO=-/14.6kb/6/1.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.223A>G_p.Ser75Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP13+c.223A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76861680">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,14:30:99:383,0,510:127	1|1:0,43:43:99:1423,128,0:127	0|1:11,12:23:99:372,0,342:127
10	76867899	.	T	C	3224.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=60;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7912300;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7912300" target="_blank">rs7912300</a>;ExAC.Info.AC=43781;ExAC.Info.AN=125054;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=26262;ExAC.Info.AC_Hom=8695;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SAMD8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD8" target="_blank">SAMD8</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DUSP13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD8" target="_blank">SAMD8</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394707;SAVANT_GENE=DUSP13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP13" target="_blank">DUSP13</a>;SAVANT_INFO=-/14.6kb/6/1.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4065A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP13+c.-4065A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76867899">View</a>	GT:AD:DP:GQ:PL:TP	0|1:6,13:19:99:478,0,145:69	1|1:0,23:23:69:778,69,0:69	0|1:12,6:18:99:189,0,327:69
10	76970831	.	G	T	3060.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=372;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs77230810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77230810" target="_blank">rs77230810</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-158-61G>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=VDAC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VDAC2" target="_blank">VDAC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313132;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313132;SAVANT_GENE=VDAC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VDAC2" target="_blank">VDAC2</a>;SAVANT_INFO=+/20.4kb/11/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-511G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VDAC2+c.-511G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76970831">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,324,3770:127	0|0:140,0:140:99:0,421,5084:127	0|1:65,59:124:99:1549,0,1843:127
10	76990646	.	G	A	1050.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs74146301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74146301" target="_blank">rs74146301</a>;ExAC.Info.AC=8039;ExAC.Info.AN=126700;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=7373;ExAC.Info.AC_Hom=309;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.839-10G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=VDAC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VDAC2" target="_blank">VDAC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313132;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.839G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=VDAC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VDAC2" target="_blank">VDAC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313132;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.839G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=VDAC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VDAC2" target="_blank">VDAC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313132;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313132;SAVANT_GENE=VDAC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VDAC2" target="_blank">VDAC2</a>;SAVANT_INFO=+/20.4kb/11/1.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.839-10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VDAC2+c.839-10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76990646">View</a>	GT:AD:DP:GQ:PL:TP	0|0:23,0:23:69:0,69,823:68	0|0:43,1:44:94:0,94,1605:68	0|1:12,18:30:99:544,0,401:68
10	76995570	.	C	G	408.16	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=13;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs114652269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114652269" target="_blank">rs114652269</a>;ExAC.Info.AC=8039;ExAC.Info.AN=55256;ExAC.Info.AF=0.145;ExAC.Info.AC_Het=1171;ExAC.Info.AC_Hom=224;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.94+23G>C;snpeff.Amino_Acid_length=262;snpeff.Gene_Name=COMTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COMTD1" target="_blank">COMTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372538;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.95C>G;snpeff.Amino_Acid_length=262;snpeff.Gene_Name=COMTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COMTD1" target="_blank">COMTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372538;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.95C>G;snpeff.Amino_Acid_length=262;snpeff.Gene_Name=COMTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COMTD1" target="_blank">COMTD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372538;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372538;SAVANT_GENE=COMTD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COMTD1" target="_blank">COMTD1</a>;SAVANT_INFO=-/2.0kb/7/1.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.94+23G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COMTD1+c.94+23G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:76995570">View</a>	GT:AD:DP:GQ:PL:TP	0|0:2,0:2:6:0,6,78:5	0|0:3,0:3:9:0,9,126:5	0|1:1,7:8:12:222,0,12:5
10	77160058	.	G	A	2845.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72807457;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72807457" target="_blank">rs72807457</a>;ExAC.Info.AC=317;ExAC.Info.AN=126572;ExAC.Info.AF=2.505e-03;ExAC.Info.AC_Het=307;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.142+805C>T;snpeff.Gene_Name=RP11-399K21.11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-399K2111" target="_blank">RP11-399K2111</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418818;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro130Pro/c.390C>T;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=ZNF503;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-399K2111" target="_blank">RP11-399K2111</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372524;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372524;SAVANT_GENE=ZNF503;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF503" target="_blank">ZNF503</a>;SAVANT_INFO=-/4.1kb/2/3.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.390C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF503+c.390C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:77160058">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,268,3219:127	0|0:107,0:107:99:0,322,3880:127	0|1:62,49:111:99:1442,0,1868:127
10	77162966	.	C	T	1524.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72807459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72807459" target="_blank">rs72807459</a>;ExAC.Info.AC=213;ExAC.Info.AN=23402;ExAC.Info.AF=9.102e-03;ExAC.Info.AC_Het=93;ExAC.Info.AC_Hom=3;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.155C>T;snpeff.Gene_Name=ZNF503-AS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF503-AS2" target="_blank">ZNF503-AS2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000425916;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000425916;SAVANT_GENE=ZNF503-AS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF503-AS2" target="_blank">ZNF503-AS2</a>;SAVANT_INFO=+/5.9kb/2/2.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-49C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF503-AS2+c.-49C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:77162966">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2345:127	0|1:36,31:67:99:781,0,1030:127	0|0:48,0:48:99:0,144,1504:127
10	77312184	.	C	T	2444.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=348;MQ=70.19;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1367290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1367290" target="_blank">rs1367290</a>;ExAC.Info.AC=23233;ExAC.Info.AN=58758;ExAC.Info.AF=0.395;ExAC.Info.AC_Het=5175;ExAC.Info.AC_Hom=153;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1367290" target="_blank">rs1367290</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:77312184">View</a>	GT:AD:DP:GQ:PL:TP	0|0:131,2:133:99:0,339,3873:127	0|1:71,41:112:99:687,0,1727:127	0|1:67,36:103:99:555,0,1641:127
10	77542660	.	C	A	11064.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=660;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Albinism|_oculocutaneous|_type_VII|_615179_(3);dbSNP139.ID=rs72811406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72811406" target="_blank">rs72811406</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=74;snpeff.Amino_Acid_Change=c.-74C>A;snpeff.Amino_Acid_length=198;snpeff.Gene_Name=C10orf11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11" target="_blank">C10orf11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372499;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372499;SAVANT_GENE=C10orf11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11" target="_blank">C10orf11</a>;SAVANT_INFO=+/774.6kb/6/0.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-74C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf11+c.-74C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:77542660">View</a>	GT:AD:DP:GQ:PL:TP	1|0:114,93:207:99:2175,0,3323:127	0|0:242,0:242:99:0,727,8429:127	1|0:120,91:211:99:2353,0,3567:127
10	77807027	.	T	C	23761.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=473;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Albinism|_oculocutaneous|_type_VII|_615179_(3);dbSNP139.ID=rs1898071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1898071" target="_blank">rs1898071</a>;ExAC.Info.AC=49128;ExAC.Info.AN=126696;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=27238;ExAC.Info.AC_Hom=10894;snpeff.Effect=sequence_feature[repeat:LRR_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280T>C;snpeff.Amino_Acid_length=198;snpeff.Gene_Name=C10orf11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11" target="_blank">C10orf11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372499;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu94Leu/c.280T>C;snpeff.Amino_Acid_length=198;snpeff.Gene_Name=C10orf11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11" target="_blank">C10orf11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372499;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372499;SAVANT_GENE=C10orf11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11" target="_blank">C10orf11</a>;SAVANT_INFO=+/774.6kb/6/0.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.280T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf11+c.280T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:77807027">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:5483,471,0:127	1|0:95,82:177:99:2417,0,2970:127	1|0:65,74:139:99:2215,0,2030:127
10	77807092	.	A	C	32184.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=671;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Albinism|_oculocutaneous|_type_VII|_615179_(3);dbSNP139.ID=rs1898070;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1898070" target="_blank">rs1898070</a>;ExAC.Info.AC=46723;ExAC.Info.AN=126152;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=24177;ExAC.Info.AC_Hom=9219;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.314+31A>C;snpeff.Amino_Acid_length=198;snpeff.Gene_Name=C10orf11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11" target="_blank">C10orf11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372499;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LRRCT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>C;snpeff.Amino_Acid_length=198;snpeff.Gene_Name=C10orf11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11" target="_blank">C10orf11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372499;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LRRCT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315A>C;snpeff.Amino_Acid_length=198;snpeff.Gene_Name=C10orf11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11" target="_blank">C10orf11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372499;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372499;SAVANT_GENE=C10orf11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11" target="_blank">C10orf11</a>;SAVANT_INFO=+/774.6kb/6/0.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.314+31A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf11+c.314+31A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:77807092">View</a>	GT:AD:DP:GQ:PL:TP	1|1:3,199:202:99:6904,522,0:127	1|0:154,112:266:99:3357,0,4458:127	1|0:108,95:203:99:2738,0,2969:127
10	77818594	.	C	T	15337.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Albinism|_oculocutaneous|_type_VII|_615179_(3);dbSNP139.ID=rs7924288;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7924288" target="_blank">rs7924288</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.432+53C>T;snpeff.Amino_Acid_length=198;snpeff.Gene_Name=C10orf11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11" target="_blank">C10orf11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372499;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372499;SAVANT_GENE=C10orf11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf11" target="_blank">C10orf11</a>;SAVANT_INFO=+/774.6kb/6/0.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.432+53C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf11+c.432+53C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:77818594">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:3118,256,0:127	1|0:54,64:118:99:2108,0,1861:127	1|0:48,46:94:99:1398,0,1600:127
10	78649399	.	C	T	6854.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=650;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Generalized_epilepsy_and_paroxysmal_dyskinesia|_609446_(3);dbSNP139.ID=rs2288840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2288840" target="_blank">rs2288840</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3343-72G>A;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404771;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.238+1360C>T;snpeff.Gene_Name=RP11-443A13.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429850;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404857;SAVANT_GENE=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;SAVANT_INFO=-/750.4kb/28/3.7kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3292-72G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNMA1+c.3292-72G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:78649399">View</a>	GT:AD:DP:GQ:PL:TP	0|0:200,0:200:99:0,601,6672:127	0|1:122,118:240:99:3446,0,3477:127	0|0:210,0:210:99:0,631,7133:127
10	78709203	.	G	A	15587.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=537;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Generalized_epilepsy_and_paroxysmal_dyskinesia|_609446_(3);dbSNP139.ID=rs12770084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12770084" target="_blank">rs12770084</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-443A13.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-443A135" target="_blank">RP11-443A135</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2485-79C>T;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-443A135" target="_blank">RP11-443A135</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404771;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404857;SAVANT_GENE=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;SAVANT_INFO=-/750.4kb/28/3.7kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2434-79C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNMA1+c.2434-79C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:78709203">View</a>	GT:AD:DP:GQ:PL:TP	0/1:82,77:159:99:1984,0,2546:127	0/1:102,100:202:99:2712,0,3007:127	0/1:88,88:176:99:2336,0,2599:127
10	78778734	.	G	A	7318.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Generalized_epilepsy_and_paroxysmal_dyskinesia|_609446_(3);dbSNP139.ID=rs16934182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16934182" target="_blank">rs16934182</a>;ExAC.Info.AC=68957;ExAC.Info.AN=126516;ExAC.Info.AF=0.545;ExAC.Info.AC_Het=25561;ExAC.Info.AC_Hom=20340;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2015+37C>T;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404771;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404857;SAVANT_GENE=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;SAVANT_INFO=-/750.4kb/28/3.7kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2015+37C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNMA1+c.2015+37C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:78778734">View</a>	GT:AD:DP:GQ:PL:TP	0/1:60,35:95:99:931,0,1558:127	0/1:61,40:101:99:1095,0,1627:127	0/1:40,38:78:99:1062,0,1143:127
10	78782876	.	T	C	37349.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=774;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Generalized_epilepsy_and_paroxysmal_dyskinesia|_609446_(3);dbSNP139.ID=rs7078109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7078109" target="_blank">rs7078109</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1929-4019A>G;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404771;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404857;SAVANT_GENE=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;SAVANT_INFO=-/750.4kb/28/3.7kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1929-4019A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNMA1+c.1929-4019A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:78782876">View</a>	GT:AD:DP:GQ:PL:TP	0|1:105,130:235:99:3790,0,2813:127	1|1:0,279:279:99:10187,839,0:127	0|1:122,138:260:99:4227,0,3566:127
10	78833070	.	T	C	3848.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Generalized_epilepsy_and_paroxysmal_dyskinesia|_609446_(3);dbSNP139.ID=rs2274416;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274416" target="_blank">rs2274416</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1594-60A>G;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404771;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404857;SAVANT_GENE=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;SAVANT_INFO=-/750.4kb/28/3.7kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1594-60A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNMA1+c.1594-60A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:78833070">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,316,3730:127	0|1:64,63:127:99:1943,0,1865:127	0|0:91,0:91:99:0,274,3291:127
10	78839384	.	C	A	2156.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Generalized_epilepsy_and_paroxysmal_dyskinesia|_609446_(3);dbSNP139.ID=rs45495698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45495698" target="_blank">rs45495698</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1524-76G>T;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404771;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404857;SAVANT_GENE=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;SAVANT_INFO=-/750.4kb/28/3.7kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1524-76G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNMA1+c.1524-76G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:78839384">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2506:127	0|1:46,40:86:99:1097,0,1314:127	0|0:76,0:76:99:0,228,2716:127
10	78868165	.	CAAA	C	7590.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=183;MQ=69.89;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Generalized_epilepsy_and_paroxysmal_dyskinesia|_609446_(3);dbSNP139.ID=rs138226779;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138226779" target="_blank">rs138226779</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1223+71_1223+73delTTT;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404771;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000404857;SAVANT_GENE=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;SAVANT_INFO=-/750.4kb/28/3.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1223+71_1223+73delTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNMA1+c.1223+71_1223+73delTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:78868165">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,22:55:99:580,0,928:127	1|1:4,61:65:99:2069,134,0:127	0|1:38,25:63:99:675,0,1239:127
10	78868204	.	G	A	2192.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=201;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Generalized_epilepsy_and_paroxysmal_dyskinesia|_609446_(3);dbSNP139.ID=rs45459294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45459294" target="_blank">rs45459294</a>;ExAC.Info.AC=8217;ExAC.Info.AN=126704;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=7461;ExAC.Info.AC_Hom=377;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1223+35C>T;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404771;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404857;SAVANT_GENE=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;SAVANT_INFO=-/750.4kb/28/3.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1223+35C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNMA1+c.1223+35C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:78868204">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,199,2134:127	0|1:32,42:74:99:1115,0,871:127	0|0:60,0:60:99:0,177,1981:127
10	78944590	.	G	A	14650.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=442;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Generalized_epilepsy_and_paroxysmal_dyskinesia|_609446_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1131824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131824" target="_blank">rs1131824</a>;ExAC.Info.AC=45637;ExAC.Info.AN=126692;ExAC.Info.AF=0.360;ExAC.Info.AC_Het=27798;ExAC.Info.AC_Hom=8907;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000117331;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe229Phe/c.687C>T;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404771;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404857;SAVANT_GENE=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;SAVANT_INFO=-/750.4kb/28/3.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.687C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNMA1+c.687C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:78944590">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000117331" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:68,89:157:99:2345,0,1791:127	0/1:77,83:160:99:2342,0,2131:127	0/1:64,61:125:99:1688,0,1802:127
10	78977190	.	A	C	18437.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=621;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Generalized_epilepsy_and_paroxysmal_dyskinesia|_609446_(3);dbSNP139.ID=rs16934368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16934368" target="_blank">rs16934368</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.603-32516T>G;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404771;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404857;SAVANT_GENE=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;SAVANT_INFO=-/750.4kb/28/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.603-32516T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNMA1+c.603-32516T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:78977190">View</a>	GT:AD:DP:GQ:PL:TP	0/1:118,80:198:99:2065,0,3331:127	0/1:117,104:221:99:2839,0,3184:127	0/1:104,98:202:99:2817,0,2787:127
10	79163867	.	G	C	3811.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Generalized_epilepsy_and_paroxysmal_dyskinesia|_609446_(3);dbSNP139.ID=rs596832;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=596832" target="_blank">rs596832</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.379-86C>G;snpeff.Amino_Acid_length=1288;snpeff.Gene_Name=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404771;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404857;SAVANT_GENE=KCNMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNMA1" target="_blank">KCNMA1</a>;SAVANT_INFO=-/750.4kb/28/3.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.379-86C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNMA1+c.379-86C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:79163867">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,35:57:99:1044,0,672:127	0/1:41,19:60:99:528,0,1363:127	0/1:26,15:41:99:421,0,870:127
10	79566632	.	G	A	13375.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1058198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1058198" target="_blank">rs1058198</a>;ExAC.Info.AC=38343;ExAC.Info.AN=126704;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=26093;ExAC.Info.AC_Hom=6119;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4851G>A;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4851G>A;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4851G>A;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp1617Asp/c.4851C>T;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372391;SAVANT_GENE=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;SAVANT_INFO=-/135.7kb/32/7.4kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.4851C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DLG5+c.4851C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:79566632">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,73:149:99:1834,0,1967:127	0|0:148,0:148:99:0,445,4810:127	1|1:0,118:118:99:3948,354,0:127
10	79572160	.	G	A	918.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72815386;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72815386" target="_blank">rs72815386</a>;ExAC.Info.AC=5;ExAC.Info.AN=126694;ExAC.Info.AF=3.947e-05;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4026-25C>T;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372391;SAVANT_GENE=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;SAVANT_INFO=-/135.7kb/32/7.4kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.4026-25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DLG5+c.4026-25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:79572160">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1905:127	0|0:57,0:57:99:0,171,1879:127	0|1:25,17:42:99:478,0,761:127
10	79575879	.	A	G	6355.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1248638;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1248638" target="_blank">rs1248638</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4025+430T>C;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372391;SAVANT_GENE=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;SAVANT_INFO=-/135.7kb/32/7.4kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.4025+430T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DLG5+c.4025+430T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:79575879">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,29:39:99:886,0,236:127	0|0:84,0:84:99:0,252,2731:127	1|1:0,54:54:99:1846,162,0:127
10	79579047	.	A	G	12078.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1248635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1248635" target="_blank">rs1248635</a>;ExAC.Info.AC=85040;ExAC.Info.AN=126616;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=26855;ExAC.Info.AC_Hom=28523;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3671+32T>C;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372391;SAVANT_GENE=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;SAVANT_INFO=-/135.7kb/32/7.4kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3671+32T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DLG5+c.3671+32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:79579047">View</a>	GT:AD:DP:GQ:PL:TP	1|0:45,44:89:99:1242,0,1237:127	0|0:100,0:100:99:0,299,3198:127	1|1:0,105:105:99:3470,314,0:127
10	79584178	.	G	C	3695.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1248629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1248629" target="_blank">rs1248629</a>;ExAC.Info.AC=86101;ExAC.Info.AN=126702;ExAC.Info.AF=0.680;ExAC.Info.AC_Het=26699;ExAC.Info.AC_Hom=29548;snpeff.Effect=sequence_feature[domain:PDZ_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2346G>C;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2346G>C;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2346G>C;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2346G>C;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgG;snpeff.Amino_Acid_Change=p.Arg782Arg/c.2346C>G;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372391;SAVANT_GENE=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;SAVANT_INFO=-/135.7kb/32/7.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2346C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DLG5+c.2346C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:79584178">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,21:37:99:549,0,425:89	0|0:37,0:37:99:0,111,1346:89	1|1:0,30:30:90:1039,90,0:89
10	79614189	.	A	G	7974.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1248692;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1248692" target="_blank">rs1248692</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.537-61T>C;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372391;SAVANT_GENE=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;SAVANT_INFO=-/135.7kb/32/7.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.537-61T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DLG5+c.537-61T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:79614189">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,30:53:99:956,0,618:127	0|0:67,0:67:99:0,201,2376:127	1|1:0,59:59:99:2260,177,0:127
10	79616605	.	T	C	2558.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1248696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1248696" target="_blank">rs1248696</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Inflammatory_bowel_disease|_risk|_association_with;hgmd_2014.2.OMIM_ID=604090;hgmd_2014.2.PubMed=15107852;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15107852" target="_blank">15107852</a>;ExAC.Info.AC=117893;ExAC.Info.AN=126696;ExAC.Info.AF=0.931;ExAC.Info.AC_Het=7958;ExAC.Info.AC_Hom=54654;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln140Arg/c.419A>G;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372391;SAVANT_GENE=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;SAVANT_INFO=-/135.7kb/32/7.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.419A>G_p.Gln140Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DLG5+c.419A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:79616605">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,10:29:99:268,0,572:60	0|1:11,10:21:99:293,0,285:60	1|1:0,20:20:60:657,60,0:60
10	79628875	.	A	G	2656.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=64;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1248655;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1248655" target="_blank">rs1248655</a>;ExAC.Info.AC=88473;ExAC.Info.AN=126698;ExAC.Info.AF=0.698;ExAC.Info.AC_Het=25653;ExAC.Info.AC_Hom=31213;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.373+12T>C;snpeff.Amino_Acid_length=1919;snpeff.Gene_Name=DLG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372391;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=980;snpeff.Amino_Acid_Change=c.*980A>G;snpeff.Amino_Acid_length=125;snpeff.Gene_Name=AL391421.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5" target="_blank">DLG5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372387;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372391:ENST00000372387;SAVANT_GENE=DLG5:AL391421.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DLG5:AL3914211" target="_blank">DLG5:AL3914211</a>;SAVANT_INFO=-/135.7kb/32/7.4kb:+/2.7kb/2/1.9kb;SAVANT_LOC=In2/3:3UTR;SAVANT_HGVS=c.373+12T>C:c.*980A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DLG5:AL3914211+c.373+12T>C:c.*980A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:79628875">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,13:23:99:369,0,330:53	0|0:23,0:23:69:0,69,908:53	1|1:0,18:18:54:668,54,0:53
10	79793688	.	C	T	21106.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=666;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Diamond-blackfan_anemia_3|_610629_(3);dbSNP139.ID=rs3740253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740253" target="_blank">rs3740253</a>;ExAC.Info.AC=71941;ExAC.Info.AN=126704;ExAC.Info.AF=0.568;ExAC.Info.AC_Het=29735;ExAC.Info.AC_Hom=21098;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3+26C>T;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=RPS24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS24" target="_blank">RPS24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000440692;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000440692;SAVANT_GENE=RPS24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS24" target="_blank">RPS24</a>;SAVANT_INFO=+/23.1kb/5/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.3+26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS24+c.3+26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:79793688">View</a>	GT:AD:DP:GQ:PL:TP	0/1:89,107:196:99:2717,0,2402:127	0/1:123,124:247:99:3091,0,3686:127	0/1:110,113:223:99:2986,0,3207:127
10	80288406	.	T	G	15540.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1865706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1865706" target="_blank">rs1865706</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00856;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00856" target="_blank">LINC00856</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00856" target="_blank">LINC00856</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=LINC00856+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:80288406">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1519,141,0:127	1|1:0,73:73:99:2445,219,0:127	1|1:0,64:64:99:2128,192,0:127
10	80310465	.	T	C	20305.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2670191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2670191" target="_blank">rs2670191</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00856;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00856" target="_blank">LINC00856</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00856" target="_blank">LINC00856</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=LINC00856+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:80310465">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:2707,255,0:127	1|1:0,107:107:99:3405,321,0:127	1|1:0,72:72:99:2459,216,0:127
10	80310636	.	G	A	12760.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7090749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7090749" target="_blank">rs7090749</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LINC00856;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00856" target="_blank">LINC00856</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00856" target="_blank">LINC00856</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=LINC00856+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:80310636">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,36:78:99:1032,0,1322:127	0|1:49,56:105:99:1523,0,1598:127	1|1:0,86:86:99:3078,259,0:127
10	80762010	.	GA	G	205.56	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=4;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;ExAC.Info.AC=62;ExAC.Info.AN=5460;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.266-18delT;snpeff.Gene_Name=RP11-481G8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-481G82" target="_blank">RP11-481G82</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1013-39368delT;snpeff.Gene_Name=ZMIZ1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-481G82" target="_blank">RP11-481G82</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456353;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-481G82" target="_blank">RP11-481G82</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-481G82+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:80762010">View</a>	GT:AD:DP:GQ:PL:TP	0|1:1,0:1:2:0,3,10:1	1|1:0,2:2:6:56,6,0:1	0|0:1,0:1:3:0,3,10:1
10	80763382	.	C	T	5193.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10762828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10762828" target="_blank">rs10762828</a>;ExAC.Info.AC=2724;ExAC.Info.AN=18398;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=1861;ExAC.Info.AC_Hom=232;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.179G>A;snpeff.Gene_Name=RP11-481G8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-481G82" target="_blank">RP11-481G82</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1013-40739G>A;snpeff.Gene_Name=ZMIZ1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-481G82" target="_blank">RP11-481G82</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456353;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-481G82" target="_blank">RP11-481G82</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-481G82+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:80763382">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,37:64:99:1017,0,651:127	0|0:74,0:74:99:0,222,2351:127	1|0:32,35:67:99:989,0,907:127
10	80763534	.	A	G	3074.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10762829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10762829" target="_blank">rs10762829</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.27T>C;snpeff.Gene_Name=RP11-481G8.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-481G82" target="_blank">RP11-481G82</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000427035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1013-40891T>C;snpeff.Gene_Name=ZMIZ1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-481G82" target="_blank">RP11-481G82</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456353;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-481G82" target="_blank">RP11-481G82</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-481G82+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:80763534">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,17:17:51:603,51,0:51	1|0:11,8:19:99:206,0,289:51	1|0:13,6:19:99:186,0,399:51
10	81045280	.	T	C	14686.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1250568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1250568" target="_blank">rs1250568</a>;ExAC.Info.AC=5929;ExAC.Info.AN=15556;ExAC.Info.AF=0.381;ExAC.Info.AC_Het=2693;ExAC.Info.AC_Hom=1157;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.426-4252T>C;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334512;SAVANT_GENE=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;SAVANT_INFO=+/247.5kb/25/7.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.426-4252T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZMIZ1+c.426-4252T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81045280">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,76:77:99:2669,195,0:127	1|0:62,39:101:99:1130,0,1754:127	1|0:44,41:85:99:1358,0,1265:127
10	81052433	.	A	G	1869.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72818261;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72818261" target="_blank">rs72818261</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.957+320A>G;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334512;SAVANT_GENE=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;SAVANT_INFO=+/247.5kb/25/7.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.957+320A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZMIZ1+c.957+320A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81052433">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2723:127	0|1:41,36:77:99:952,0,1211:127	0|0:67,0:67:99:0,201,2393:127
10	81053475	.	G	A	4178.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1250560;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1250560" target="_blank">rs1250560</a>;ExAC.Info.AC=52815;ExAC.Info.AN=123620;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=27866;ExAC.Info.AC_Hom=11537;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1230+65G>A;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231G>A;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231G>A;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231G>A;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1231G>A;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334512;SAVANT_GENE=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;SAVANT_INFO=+/247.5kb/25/7.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1230+65G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZMIZ1+c.1230+65G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81053475">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,31:72:99:851,0,1179:127	0|0:57,0:57:99:0,171,2135:127	1|0:26,32:58:99:950,0,810:127
10	81060743	.	T	C	238.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=50;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs78939689;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78939689" target="_blank">rs78939689</a>;ExAC.Info.AC=8575;ExAC.Info.AN=126506;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=7708;ExAC.Info.AC_Hom=332;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2019+44T>C;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334512;SAVANT_GENE=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;SAVANT_INFO=+/247.5kb/25/7.5kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2019+44T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZMIZ1+c.2019+44T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81060743">View</a>	GT:AD:DP:GQ:PL:TP	0|0:22,0:22:66:0,66,808:50	0|0:17,0:17:51:0,51,611:50	0|1:6,5:11:99:138,0,194:50
10	81065201	.	G	A	5364.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1250558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1250558" target="_blank">rs1250558</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2355-89G>A;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:SP-RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:SP-RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:SP-RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2355G>A;snpeff.Amino_Acid_length=1067;snpeff.Gene_Name=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334512;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334512;SAVANT_GENE=ZMIZ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZMIZ1" target="_blank">ZMIZ1</a>;SAVANT_INFO=+/247.5kb/25/7.5kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2355-89G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZMIZ1+c.2355-89G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81065201">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:881,81,0:81	1|0:17,12:29:99:376,0,544:81	1|0:14,11:25:99:349,0,444:81
10	81267591	.	C	T	8031.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=257;MQ=69.48;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1250778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1250778" target="_blank">rs1250778</a>;ExAC.Info.AC=5370;ExAC.Info.AN=20246;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=2525;ExAC.Info.AC_Hom=826;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.36-50G>A;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=AL133481.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL1334811" target="_blank">AL1334811</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538322;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL1334811" target="_blank">AL1334811</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL1334811+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81267591">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,35:74:99:894,0,1309:127	0|0:118,0:118:99:0,355,4256:127	1|1:0,65:65:99:2265,195,0:127
10	81270316	.	C	T	1580.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=232;MQ=43.86;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs141857846;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141857846" target="_blank">rs141857846</a>;ExAC.Info.AC=3170;ExAC.Info.AN=121938;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=2877;ExAC.Info.AC_Hom=20;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.124G>A;snpeff.Gene_Name=RP11-342M3.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342M32" target="_blank">RP11-342M32</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000607558;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala2Thr/c.4G>A;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=AL133481.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342M32" target="_blank">RP11-342M32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538322;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-342M32" target="_blank">RP11-342M32</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-342M32+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81270316">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,241,2511:127	0|0:75,0:75:99:0,225,2447:127	0|1:43,33:76:99:809,0,1101:127
10	81286374	.	A	C	2424.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=112;MQ=65.81;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1250962;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1250962" target="_blank">rs1250962</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.14T>G;snpeff.Gene_Name=RP11-589B3.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-589B37" target="_blank">RP11-589B37</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000606318;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-589B37" target="_blank">RP11-589B37</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-589B37+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81286374">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,5:25:99:133,0,574:75	0|0:62,0:62:99:0,186,2093:75	1|1:0,25:25:75:965,75,0:75
10	81286427	.	G	C	350.77	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=62;MQ=66.92;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1250961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1250961" target="_blank">rs1250961</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1250961" target="_blank">rs1250961</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81286427">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,1:14:3:3,0,523:13	0|0:43,0:43:99:0,129,1854:13	1|1:0,5:5:15:194,15,0:13
10	81316936	.	T	C	1854.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=298;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Pulmonary_fibrosis|_idiopathic|_178500_(3);dbSNP139.ID=rs17880428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17880428" target="_blank">rs17880428</a>;ExAC.Info.AC=3934;ExAC.Info.AN=126704;ExAC.Info.AF=0.031;ExAC.Info.AC_Het=3748;ExAC.Info.AC_Hom=93;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=29;snpeff.Amino_Acid_Change=c.*29A>G;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372327;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372325;SAVANT_GENE=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;SAVANT_INFO=-/4.5kb/6/2.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*29A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA2+c.*29A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81316936">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,2710:127	0|0:129,0:129:99:0,387,4159:127	0|1:42,38:80:99:946,0,1052:127
10	81317045	.	G	T	10230.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=307;MQ=62.74;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Pulmonary_fibrosis|_idiopathic|_178500_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1965708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1965708" target="_blank">rs1965708</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Tuberculosis|_association_with;hgmd_2014.2.OMIM_ID=178642;hgmd_2014.2.PubMed=16292672;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16292672" target="_blank">16292672</a>;ExAC.Info.AC=28105;ExAC.Info.AN=126704;ExAC.Info.AF=0.222;ExAC.Info.AC_Het=21149;ExAC.Info.AC_Hom=3473;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Aag;snpeff.Amino_Acid_Change=p.Gln223Lys/c.667C>A;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372327;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372325;SAVANT_GENE=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;SAVANT_INFO=-/4.5kb/6/2.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.667C>A_p.Gln223Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA2+c.667C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81317045">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,54:101:99:1452,0,1318:127	0|0:118,0:118:99:0,355,4545:127	1|1:0,88:88:99:2985,264,0:127
10	81317292	.	G	A	1965.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=211;MQ=43.19;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Pulmonary_fibrosis|_idiopathic|_178500_(3);dbSNP139.ID=rs1965707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1965707" target="_blank">rs1965707</a>;ExAC.Info.AC=36520;ExAC.Info.AN=126518;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=24114;ExAC.Info.AC_Hom=5523;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser140Ser/c.420C>T;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372327;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372325;SAVANT_GENE=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;SAVANT_INFO=-/4.5kb/6/2.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.420C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA2+c.420C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81317292">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,6:49:65:65,0,1357:68	0|0:139,0:139:99:0,418,4678:68	1|1:0,23:23:69:838,69,0:68
10	81317360	.	A	G	505.05	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=166;MQ=51.22;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Pulmonary_fibrosis|_idiopathic|_178500_(3);dbSNP139.ID=rs1610440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1610440" target="_blank">rs1610440</a>;ExAC.Info.AC=7288;ExAC.Info.AN=125210;ExAC.Info.AF=0.058;ExAC.Info.AC_Het=1623;ExAC.Info.AC_Hom=446;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.371-19T>C;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372327;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372325;SAVANT_GENE=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;SAVANT_INFO=-/4.5kb/6/2.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.371-19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA2+c.371-19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81317360">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,4:46:5:5,0,1270:22	0|0:112,0:112:99:0,337,3957:22	1|1:0,8:8:24:275,24,0:22
10	81318621	.	C	T	8045.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Pulmonary_fibrosis|_idiopathic|_178500_(3);dbSNP139.ID=rs17884396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17884396" target="_blank">rs17884396</a>;ExAC.Info.AC=37292;ExAC.Info.AN=126704;ExAC.Info.AF=0.294;ExAC.Info.AC_Het=25024;ExAC.Info.AC_Hom=6127;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.292+21G>A;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372327;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372325;SAVANT_GENE=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;SAVANT_INFO=-/4.5kb/6/2.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.292+21G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA2+c.292+21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81318621">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,32:73:99:768,0,1252:127	0|0:89,2:91:99:0,224,3097:127	1|1:0,72:72:99:2488,216,0:127
10	81319214	.	G	T	3578.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=135;MQ=58.61;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Pulmonary_fibrosis|_idiopathic|_178500_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1059046;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1059046" target="_blank">rs1059046</a>;ExAC.Info.AC=45740;ExAC.Info.AN=126354;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=13083;ExAC.Info.AC_Hom=12990;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aAc;snpeff.Amino_Acid_Change=p.Thr9Asn/c.26C>A;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372327;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372325;SAVANT_GENE=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;SAVANT_INFO=-/4.5kb/6/2.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.26C>A_p.Thr9Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA2+c.26C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81319214">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,9:39:99:204,0,935:96	1|1:0,32:32:96:1132,96,0:96	0|0:64,0:64:99:0,192,2371:96
10	81319400	.	A	T	1388.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=64;MQ=60.28;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Pulmonary_fibrosis|_idiopathic|_178500_(3);dbSNP139.ID=rs17882203;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17882203" target="_blank">rs17882203</a>;ExAC.Info.AC=16792;ExAC.Info.AN=114516;ExAC.Info.AF=0.147;ExAC.Info.AC_Het=6174;ExAC.Info.AC_Hom=832;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-23-138T>A;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372327;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372325;SAVANT_GENE=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;SAVANT_INFO=-/4.5kb/6/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-161T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA2+c.-161T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81319400">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,2:11:35:35,0,311:44	0|0:38,0:38:99:0,114,1262:44	1|1:0,15:15:45:549,45,0:44
10	81319423	.	C	T	6039.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=73;MQ=59.92;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Pulmonary_fibrosis|_idiopathic|_178500_(3);dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs1975008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1975008" target="_blank">rs1975008</a>;ExAC.Info.AC=90292;ExAC.Info.AN=96824;ExAC.Info.AF=0.933;ExAC.Info.AC_Het=1510;ExAC.Info.AC_Hom=13827;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-23-161G>A;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372327;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372325;SAVANT_GENE=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;SAVANT_INFO=-/4.5kb/6/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-184G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA2+c.-184G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81319423">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:681,60,0:48	1|1:0,37:37:99:1256,111,0:48	1|1:0,16:16:48:582,48,0:48
10	81319458	.	C	T	2444.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=77;MQ=59.02;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Pulmonary_fibrosis|_idiopathic|_178500_(3);dbSNP139.ID=rs17883613;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17883613" target="_blank">rs17883613</a>;ExAC.Info.AC=10109;ExAC.Info.AN=57594;ExAC.Info.AF=0.176;ExAC.Info.AC_Het=4420;ExAC.Info.AC_Hom=842;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-23-196G>A;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372327;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372325;SAVANT_GENE=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;SAVANT_INFO=-/4.5kb/6/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-219G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA2+c.-219G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81319458">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,11:24:99:267,0,375:68	0|0:30,0:30:90:0,90,997:68	1|1:0,23:23:69:790,69,0:68
10	81319483	.	A	G	5250.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=64;MQ=58.68;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Pulmonary_fibrosis|_idiopathic|_178500_(3);dbSNP139.ID=rs1975007;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1975007" target="_blank">rs1975007</a>;ExAC.Info.AC=33241;ExAC.Info.AN=37314;ExAC.Info.AF=0.891;ExAC.Info.AC_Het=1232;ExAC.Info.AC_Hom=10006;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-23-221T>C;snpeff.Amino_Acid_length=248;snpeff.Gene_Name=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372327;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372325;SAVANT_GENE=SFTPA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA2" target="_blank">SFTPA2</a>;SAVANT_INFO=-/4.5kb/6/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-244T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA2+c.-244T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81319483">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:740,72,0:56	1|1:0,21:21:63:832,63,0:56	1|1:0,19:19:57:631,57,0:56
10	81342369	.	G	T	15243.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=199;MQ=59.27;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs34032311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34032311" target="_blank">rs34032311</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.329C>A;snpeff.Gene_Name=MBL3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL3P" target="_blank">MBL3P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000402234;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL3P" target="_blank">MBL3P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MBL3P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81342369">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2018,195,0:127	1|1:0,80:80:99:2467,240,0:127	1|1:0,54:54:99:1692,162,0:127
10	81343036	.	G	A	3097.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=35;MQ=61.12;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3855862;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3855862" target="_blank">rs3855862</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.276+59C>T;snpeff.Gene_Name=MBL3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL3P" target="_blank">MBL3P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000402234;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL3P" target="_blank">MBL3P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MBL3P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81343036">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:427,36,0:26	1|1:0,9:9:27:304,27,0:26	1|1:0,14:14:42:519,42,0:26
10	81343060	.	G	GCCAAGAACACATTATGGGCAGAGAGAAAGCTCACACTT	1827.28	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=30;MQ=60.36;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.276+35_276+34insAAGTGTGAGCTTTCTCTCTGCCCATAATGTGTTCTTGG;snpeff.Gene_Name=MBL3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL3P" target="_blank">MBL3P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000402234;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL3P" target="_blank">MBL3P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MBL3P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81343060">View</a>	GT:AD:DP:GQ:PL:TP	0|1:7,3:10:99:177,0,283:28	1|1:0,11:11:42:595,42,0:28	0|0:9,0:9:29:0,29,409:28
10	81371049	.	C	T	3749.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4253511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4253511" target="_blank">rs4253511</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-38-289C>T;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419470;SAVANT_GENE=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;SAVANT_INFO=+/3.3kb/6/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-327C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA1+c.-327C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81371049">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,18:33:99:514,0,466:89	0|0:60,0:60:99:0,180,2187:89	1|1:0,30:30:89:1020,89,0:89
10	81371698	.	C	T	7963.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=177;MQ=61.16;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs72659390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72659390" target="_blank">rs72659390</a>;ExAC.Info.AC=18081;ExAC.Info.AN=126698;ExAC.Info.AF=0.143;ExAC.Info.AC_Het=15102;ExAC.Info.AC_Hom=1483;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.162C>T;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.162C>T;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.162C>T;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His54His/c.162C>T;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419470;SAVANT_GENE=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;SAVANT_INFO=+/3.3kb/6/1.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.162C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA1+c.162C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81371698">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,41:67:99:1098,0,635:127	0|0:50,0:50:99:0,150,1717:127	1|1:0,60:60:99:2046,180,0:127
10	81371729	.	C	G	2462.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=105;MQ=56.46;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1136450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1136450" target="_blank">rs1136450</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Idiopathic_pulmonary_fibrosis|_association_with;hgmd_2014.2.OMIM_ID=178630;hgmd_2014.2.PubMed=13680361;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=13680361" target="_blank">13680361</a>;ExAC.Info.AC=62891;ExAC.Info.AN=126654;ExAC.Info.AF=0.497;ExAC.Info.AC_Het=29466;ExAC.Info.AC_Hom=15884;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.193C>G;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.193C>G;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.193C>G;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Gtc;snpeff.Amino_Acid_Change=p.Leu65Val/c.193C>G;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419470;SAVANT_GENE=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;SAVANT_INFO=+/3.3kb/6/1.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.193C>G_p.Leu65Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA1+c.193C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81371729">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,14:44:99:364,0,892:68	1|1:0,23:23:69:846,69,0:68	0|0:38,0:38:99:0,114,1389:68
10	81372231	.	CG	C	15314.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4253514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4253514" target="_blank">rs4253514</a>;ExAC.Info.AC=29268;ExAC.Info.AN=126700;ExAC.Info.AF=0.231;ExAC.Info.AC_Het=21796;ExAC.Info.AC_Hom=3711;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.337+45delG;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338delG;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338delG;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.338delG;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000419470;SAVANT_GENE=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;SAVANT_INFO=+/3.3kb/6/1.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.337+45delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA1+c.337+45delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81372231">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,60:139:99:1989,0,2768:127	0|0:128,0:128:99:0,385,5149:127	1|1:0,118:118:99:4719,355,0:127
10	81373072	.	C	T	890.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=120;MQ=68.15;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4253523;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4253523" target="_blank">rs4253523</a>;ExAC.Info.AC=3853;ExAC.Info.AN=126702;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3671;ExAC.Info.AC_Hom=91;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.415+50C>T;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419470;SAVANT_GENE=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;SAVANT_INFO=+/3.3kb/6/1.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.415+50C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA1+c.415+50C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81373072">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1501:113	0|0:38,0:38:99:0,114,1405:113	0|1:20,16:36:99:464,0,615:113
10	81373542	.	C	T	5576.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=448;MQ=42.35;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3997777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3997777" target="_blank">rs3997777</a>;ExAC.Info.AC=26101;ExAC.Info.AN=126642;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=25519;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser155Ser/c.465C>T;snpeff.Amino_Acid_length=263;snpeff.Gene_Name=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419470;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419470;SAVANT_GENE=SFTPA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPA1" target="_blank">SFTPA1</a>;SAVANT_INFO=+/3.3kb/6/1.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.465C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPA1+c.465C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81373542">View</a>	GT:AD:DP:GQ:PL:TP	1|0:120,27:147:99:356,0,3562:127	0|0:126,0:126:99:0,379,4394:127	1|0:98,77:175:99:1755,0,2719:127
10	81667323	.	A	G	1008.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=46;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2250135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2250135" target="_blank">rs2250135</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MBL1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MBL1P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81667323">View</a>	GT:AD:DP:GQ:PL:TP	1|0:7,6:13:99:144,0,168:48	0|0:16,0:16:48:0,48,524:48	1|0:5,12:17:99:314,0,113:48
10	81667402	.	G	GT	411.99	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=36;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs201504778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201504778" target="_blank">rs201504778</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MBL1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MBL1P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81667402">View</a>	GT:AD:DP:GQ:PL:TP	1|0:2,8:10:26:183,0,26:58	0|0:20,0:20:60:0,60,537:58	1|0:3,3:6:62:62,0,65:58
10	81680770	.	A	G	1982.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11817253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11817253" target="_blank">rs11817253</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.837A>G;snpeff.Gene_Name=MBL1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000480805;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MBL1P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81680770">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,303,3094:127	0|0:93,0:93:99:0,279,3028:127	0|1:39,37:76:99:1010,0,1048:127
10	81682470	.	T	C	1708.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=314;MQ=67.24;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2475643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2475643" target="_blank">rs2475643</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1019T>C;snpeff.Gene_Name=MBL1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000480805;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MBL1P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81682470">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2663:127	0|0:147,0:147:99:0,442,4831:127	0|1:51,34:85:99:873,0,1389:127
10	81682645	.	A	G	10162.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=323;MQ=69.06;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1054053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1054053" target="_blank">rs1054053</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1194A>G;snpeff.Gene_Name=MBL1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000480805;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MBL1P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81682645">View</a>	GT:AD:DP:GQ:PL:TP	1|0:45,48:93:99:1296,0,1291:127	0|0:155,0:155:99:0,465,5073:127	1|1:0,75:75:99:2493,225,0:127
10	81701722	.	T	C	8879.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2243639;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243639" target="_blank">rs2243639</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Lung_cancer|_susceptibility_to|_association_with;hgmd_2014.2.OMIM_ID=178635;hgmd_2014.2.PubMed=16741161;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16741161" target="_blank">16741161</a>;ExAC.Info.AC=83927;ExAC.Info.AN=126704;ExAC.Info.AF=0.662;ExAC.Info.AC_Het=26965;ExAC.Info.AC_Hom=28455;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MBL1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.538T>C;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.538T>C;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.538T>C;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.538T>C;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.538T>C;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr180Ala/c.538A>G;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372292;SAVANT_GENE=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPD" target="_blank">SFTPD</a>;SAVANT_INFO=-/11.4kb/8/1.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.538A>G_p.Thr180Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPD+c.538A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81701722">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,41:79:99:1172,0,1119:127	0|0:73,2:75:99:0,176,2570:127	1|1:0,67:67:99:2407,201,0:127
10	81702538	.	C	T	2574.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=400;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17885228;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17885228" target="_blank">rs17885228</a>;ExAC.Info.AC=2325;ExAC.Info.AN=126704;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2255;ExAC.Info.AC_Hom=35;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MBL1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Collagen-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys99Lys/c.297G>A;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:5-hydroxylysine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.297C>T;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372292;SAVANT_GENE=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPD" target="_blank">SFTPD</a>;SAVANT_INFO=-/11.4kb/8/1.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.297G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPD+c.297G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81702538">View</a>	GT:AD:DP:GQ:PL:TP	0|0:143,0:143:99:0,430,4815:127	0|0:144,0:144:99:0,433,4977:127	0|1:69,44:113:99:1306,0,2071:127
10	81706324	.	A	G	4110.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs721917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=721917" target="_blank">rs721917</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Severe_RSV_infection|_association_with;hgmd_2014.2.OMIM_ID=178635;hgmd_2014.2.PubMed=12032263;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12032263" target="_blank">12032263</a>;ExAC.Info.AC=59245;ExAC.Info.AN=126704;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=30213;ExAC.Info.AC_Hom=14495;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MBL1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met31Thr/c.92T>C;snpeff.Amino_Acid_length=375;snpeff.Gene_Name=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MBL1P" target="_blank">MBL1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372292;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372292;SAVANT_GENE=SFTPD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFTPD" target="_blank">SFTPD</a>;SAVANT_INFO=-/11.4kb/8/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.92T>C_p.Met31Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFTPD+c.92T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81706324">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,36:75:99:979,0,993:127	0|0:82,0:82:99:0,246,2606:127	1|0:32,26:58:99:677,0,895:127
10	81917708	.	A	G	942.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1079242;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1079242" target="_blank">rs1079242</a>;ExAC.Info.AC=60072;ExAC.Info.AN=126704;ExAC.Info.AF=0.474;ExAC.Info.AC_Het=30425;ExAC.Info.AC_Hom=14810;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1335+15T>C;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265447;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Annexin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1336A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265447;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Annexin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1336A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265447;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Annexin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1336A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265447;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438331;SAVANT_GENE=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;SAVANT_INFO=-/54.7kb/17/7.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1335+15T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANXA11+c.1335+15T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81917708">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,1096:86	0|1:15,16:31:99:489,0,437:86	0|0:35,0:35:99:0,105,1250:86
10	81923205	.	T	G	11371.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2236558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236558" target="_blank">rs2236558</a>;ExAC.Info.AC=42234;ExAC.Info.AN=126696;ExAC.Info.AF=0.333;ExAC.Info.AC_Het=27677;ExAC.Info.AC_Hom=7042;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1030-44A>C;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265447;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438331;SAVANT_GENE=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;SAVANT_INFO=-/54.7kb/17/7.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1030-44A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANXA11+c.1030-44A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81923205">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1580,132,0:127	1|0:43,24:67:99:727,0,1204:127	1|1:0,54:54:99:2153,162,0:127
10	81925866	.	T	C	6237.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=265;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72807973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72807973" target="_blank">rs72807973</a>;ExAC.Info.AC=380;ExAC.Info.AN=126702;ExAC.Info.AF=2.999e-03;ExAC.Info.AC_Het=378;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile278Val/c.832A>G;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265447;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438331;SAVANT_GENE=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;SAVANT_INFO=-/54.7kb/17/7.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.832A>G_p.Ile278Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANXA11+c.832A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81925866">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,30:71:99:846,0,1087:127	1|0:67,46:113:99:1254,0,1886:127	0|0:81,0:81:99:0,243,2762:127
10	81926702	.	G	A	1432.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1049550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1049550" target="_blank">rs1049550</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Colorectal_cancer|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=602572;hgmd_2014.2.PubMed=17000706;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17000706" target="_blank">17000706</a>;ExAC.Info.AC=51314;ExAC.Info.AN=126538;ExAC.Info.AF=0.406;ExAC.Info.AC_Het=27014;ExAC.Info.AC_Hom=10115;snpeff.Effect=sequence_feature[repeat:Annexin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.688G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265447;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Annexin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.688G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265447;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Annexin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.688G>A;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265447;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg230Cys/c.688C>T;snpeff.Amino_Acid_length=505;snpeff.Gene_Name=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265447;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438331;SAVANT_GENE=ANXA11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANXA11" target="_blank">ANXA11</a>;SAVANT_INFO=-/54.7kb/17/7.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.688C>T_p.Arg230Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANXA11+c.688C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81926702">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1275:119	0|1:34,28:62:99:735,0,893:119	0|0:47,0:47:99:0,141,1557:119
10	81993495	.	C	A	228.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=187;MQ=67.39;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2819913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2819913" target="_blank">rs2819913</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.76C>A;snpeff.Gene_Name=RP11-40F6.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-40F61" target="_blank">RP11-40F61</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000423182;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-40F61" target="_blank">RP11-40F61</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-40F61+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81993495">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,5:70:36:0,36,2068:36	0|0:66,0:66:99:0,198,2463:36	0|1:43,8:51:99:133,0,1359:36
10	81995007	.	A	G	4505.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=240;MQ=52.59;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1250973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1250973" target="_blank">rs1250973</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.121-28A>G;snpeff.Gene_Name=RP11-40F6.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-40F61" target="_blank">RP11-40F61</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000423182;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-40F61" target="_blank">RP11-40F61</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-40F61+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81995007">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,22:76:99:456,0,1549:127	0|0:74,1:75:99:0,182,2440:127	1|0:47,42:89:99:1159,0,1278:127
10	81995058	.	G	A	19829.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=389;MQ=50.07;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2678622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2678622" target="_blank">rs2678622</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.144G>A;snpeff.Gene_Name=RP11-40F6.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-40F61" target="_blank">RP11-40F61</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000423182;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-40F61" target="_blank">RP11-40F61</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-40F61+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:81995058">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,97:134:99:2666,0,790:127	1|1:1,115:116:99:3699,307,0:127	0|1:65,74:139:99:2003,0,1674:127
10	82009543	.	C	G	5117.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=259;MQ=44.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs115968930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115968930" target="_blank">rs115968930</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2940;snpeff.Amino_Acid_Change=c.-2940C>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=AL359195.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3591951" target="_blank">AL3591951</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356374;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356374;SAVANT_GENE=AL359195.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3591951" target="_blank">AL3591951</a>;SAVANT_INFO=+/3.9kb/1/3.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-2940C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3591951+c.-2940C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82009543">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,52:92:99:1350,0,909:127	0|0:92,0:92:99:0,276,2902:127	1|0:47,28:75:99:707,0,1246:127
10	82012954	.	A	G	15692.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=499;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12773664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12773664" target="_blank">rs12773664</a>;ExAC.Info.AC=8708;ExAC.Info.AN=21970;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=4003;ExAC.Info.AC_Hom=1738;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile158Val/c.472A>G;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=AL359195.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3591951" target="_blank">AL3591951</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356374;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356374;SAVANT_GENE=AL359195.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3591951" target="_blank">AL3591951</a>;SAVANT_INFO=+/3.9kb/1/3.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.472A>G_p.Ile158Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3591951+c.472A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82012954">View</a>	GT:AD:DP:GQ:PL:TP	0/1:77,88:165:99:2577,0,2238:127	0/1:102,74:176:99:2141,0,3096:127	0/1:82,76:158:99:2282,0,2491:127
10	82013047	.	T	C	2769.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=329;MQ=69.98;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72809528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72809528" target="_blank">rs72809528</a>;ExAC.Info.AC=453;ExAC.Info.AN=22496;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=397;ExAC.Info.AC_Hom=8;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp189Arg/c.565T>C;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=AL359195.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3591951" target="_blank">AL3591951</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356374;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356374;SAVANT_GENE=AL359195.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3591951" target="_blank">AL3591951</a>;SAVANT_INFO=+/3.9kb/1/3.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.565T>C_p.Trp189Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3591951+c.565T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82013047">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,316,3597:127	0|1:77,52:129:99:1402,0,2237:127	0|0:95,0:95:99:0,286,3447:127
10	82013134	.	C	T	13470.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1298908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1298908" target="_blank">rs1298908</a>;ExAC.Info.AC=10015;ExAC.Info.AN=22156;ExAC.Info.AF=0.452;ExAC.Info.AC_Het=4183;ExAC.Info.AC_Hom=2387;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu218Phe/c.652C>T;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=AL359195.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3591951" target="_blank">AL3591951</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356374;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356374;SAVANT_GENE=AL359195.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3591951" target="_blank">AL3591951</a>;SAVANT_INFO=+/3.9kb/1/3.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.652C>T_p.Leu218Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3591951+c.652C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82013134">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,43:85:99:1616,0,2606:127	0/1:66,50:116:99:1886,0,4095:127	0/1:43,51:94:99:1986,0,2682:127
10	82013146	.	T	C	13126.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2573326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2573326" target="_blank">rs2573326</a>;ExAC.Info.AC=10520;ExAC.Info.AN=22118;ExAC.Info.AF=0.476;ExAC.Info.AC_Het=4157;ExAC.Info.AC_Hom=2575;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Ccc;snpeff.Amino_Acid_Change=p.Ser222Pro/c.664T>C;snpeff.Amino_Acid_length=280;snpeff.Gene_Name=AL359195.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3591951" target="_blank">AL3591951</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356374;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356374;SAVANT_GENE=AL359195.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3591951" target="_blank">AL3591951</a>;SAVANT_INFO=+/3.9kb/1/3.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.664T>C_p.Ser222Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3591951+c.664T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82013146">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,42:86:99:1658,0,2635:127	0/1:62,48:110:99:1843,0,4033:127	0/1:43,47:90:99:1926,0,2656:127
10	82033470	.	G	A	3997.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypermethioninemia|_persistent|_autosomal_dominant|_due_to_methionine_adenosyltransferase_I/III_deficiency|_250850_(3)|_Methionine_adenosyltransferase_deficiency|_autosomal_recessive|_250850_(3);dbSNP139.ID=rs7087728;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7087728" target="_blank">rs7087728</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=67;snpeff.Amino_Acid_Change=c.*67C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372213;SAVANT_GENE=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;SAVANT_INFO=-/17.9kb/9/3.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*67C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAT1A+c.*67C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82033470">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,32:55:99:921,0,568:127	0|0:82,0:82:99:0,246,2805:127	1|0:38,25:63:99:759,0,1109:127
10	82033594	.	G	A	8204.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypermethioninemia|_persistent|_autosomal_dominant|_due_to_methionine_adenosyltransferase_I/III_deficiency|_250850_(3)|_Methionine_adenosyltransferase_deficiency|_autosomal_recessive|_250850_(3);dbSNP139.ID=rs2993763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2993763" target="_blank">rs2993763</a>;ExAC.Info.AC=64702;ExAC.Info.AN=126704;ExAC.Info.AF=0.511;ExAC.Info.AC_Het=30419;ExAC.Info.AC_Hom=17140;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1131G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr377Tyr/c.1131C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372213;SAVANT_GENE=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;SAVANT_INFO=-/17.9kb/9/3.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1131C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAT1A+c.1131C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82033594">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,57:117:99:1588,0,1561:127	0|0:149,0:149:99:0,448,5027:127	1|0:68,53:121:99:1443,0,1833:127
10	82034262	.	G	A	12746.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=600;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypermethioninemia|_persistent|_autosomal_dominant|_due_to_methionine_adenosyltransferase_I/III_deficiency|_250850_(3)|_Methionine_adenosyltransferase_deficiency|_autosomal_recessive|_250850_(3);dbSNP139.ID=rs2994388;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2994388" target="_blank">rs2994388</a>;ExAC.Info.AC=64709;ExAC.Info.AN=126704;ExAC.Info.AF=0.511;ExAC.Info.AC_Het=30416;ExAC.Info.AC_Hom=17145;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1085+14C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086G>A;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372213;SAVANT_GENE=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;SAVANT_INFO=-/17.9kb/9/3.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1085+14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAT1A+c.1085+14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82034262">View</a>	GT:AD:DP:GQ:PL:TP	1|0:93,82:175:99:2177,0,2463:127	0|0:230,0:230:99:0,691,7372:127	1|0:103,92:195:99:2456,0,2723:127
10	82034842	.	A	G	3637.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypermethioninemia|_persistent|_autosomal_dominant|_due_to_methionine_adenosyltransferase_I/III_deficiency|_250850_(3)|_Methionine_adenosyltransferase_deficiency|_autosomal_recessive|_250850_(3);dbSNP139.ID=rs10887711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10887711" target="_blank">rs10887711</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=88487;ExAC.Info.AN=125856;ExAC.Info.AF=0.703;ExAC.Info.AC_Het=16303;ExAC.Info.AC_Hom=21108;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.882A>G;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala294Ala/c.882T>C;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372213;SAVANT_GENE=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;SAVANT_INFO=-/17.9kb/9/3.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.882T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAT1A+c.882T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82034842">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,25:52:99:698,0,749:127	0|0:78,0:78:99:0,234,2870:127	1|0:35,26:61:99:650,0,1104:127
10	82034854	.	T	C	4779.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypermethioninemia|_persistent|_autosomal_dominant|_due_to_methionine_adenosyltransferase_I/III_deficiency|_250850_(3)|_Methionine_adenosyltransferase_deficiency|_autosomal_recessive|_250850_(3);dbSNP139.ID=rs10788546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10788546" target="_blank">rs10788546</a>;ExAC.Info.AC=89894;ExAC.Info.AN=126258;ExAC.Info.AF=0.712;ExAC.Info.AC_Het=19487;ExAC.Info.AC_Hom=27467;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.870T>C;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val290Val/c.870A>G;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372213;SAVANT_GENE=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;SAVANT_INFO=-/17.9kb/9/3.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.870A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAT1A+c.870A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82034854">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,29:65:99:783,0,959:127	0|0:97,0:97:99:0,291,3577:127	1|0:39,34:73:99:973,0,1144:127
10	82040052	.	A	G	11895.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=369;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hypermethioninemia|_persistent|_autosomal_dominant|_due_to_methionine_adenosyltransferase_I/III_deficiency|_250850_(3)|_Methionine_adenosyltransferase_deficiency|_autosomal_recessive|_250850_(3);dbSNP139.ID=rs1143694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1143694" target="_blank">rs1143694</a>;ExAC.Info.AC=95446;ExAC.Info.AN=126702;ExAC.Info.AF=0.753;ExAC.Info.AC_Het=21772;ExAC.Info.AC_Hom=36820;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.426A>G;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala142Ala/c.426T>C;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372213;SAVANT_GENE=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;SAVANT_INFO=-/17.9kb/9/3.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.426T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAT1A+c.426T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82040052">View</a>	GT:AD:DP:GQ:PL:TP	0/1:77,56:133:99:1485,0,2103:127	0/1:61,64:125:99:1859,0,1681:127	0/1:69,42:111:99:1230,0,2105:127
10	82043576	.	G	A	10227.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hypermethioninemia|_persistent|_autosomal_dominant|_due_to_methionine_adenosyltransferase_I/III_deficiency|_250850_(3)|_Methionine_adenosyltransferase_deficiency|_autosomal_recessive|_250850_(3);dbSNP139.ID=rs2236569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236569" target="_blank">rs2236569</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.292+96C>T;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372213;SAVANT_GENE=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;SAVANT_INFO=-/17.9kb/9/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.292+96C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAT1A+c.292+96C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82043576">View</a>	GT:AD:DP:GQ:PL:TP	0/1:64,36:100:99:876,0,1928:127	0/1:96,68:164:99:1740,0,2839:127	0/1:73,57:130:99:1426,0,2332:127
10	82049251	.	T	TTTCTTC	17923.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=454;MQ=70.08;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hypermethioninemia|_persistent|_autosomal_dominant|_due_to_methionine_adenosyltransferase_I/III_deficiency|_250850_(3)|_Methionine_adenosyltransferase_deficiency|_autosomal_recessive|_250850_(3);dbSNP139.ID=rs145126070;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145126070" target="_blank">rs145126070</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=73;snpeff.Amino_Acid_Change=c.-73_-74insGAAGAA;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372213;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000372213;SAVANT_GENE=MAT1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAT1A" target="_blank">MAT1A</a>;SAVANT_INFO=-/17.9kb/9/3.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-78_-73dup6;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAT1A+c.-78_-73dup6+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82049251">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,77:145:99:2813,0,2521:127	0/1:96,96:192:99:3500,0,3607:127	0/1:66,51:117:99:1841,0,2578:127
10	82095804	.	A	G	1408.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72815321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72815321" target="_blank">rs72815321</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72815321" target="_blank">rs72815321</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82095804">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,812:80	0|1:21,31:52:99:723,0,526:80	0|0:31,0:31:93:0,93,1014:80
10	82095968	.	T	G	2281.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1340383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1340383" target="_blank">rs1340383</a>;ExAC.Info.AC=94154;ExAC.Info.AN=126442;ExAC.Info.AF=0.745;ExAC.Info.AC_Het=21151;ExAC.Info.AC_Hom=34243;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DYDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYDC1" target="_blank">DYDC1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372204;SAVANT_GENE=DYDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYDC1" target="_blank">DYDC1</a>;SAVANT_INFO=-/20.6kb/8/0.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.505-27A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DYDC1+c.505-27A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82095968">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,13:26:99:346,0,371:127	0/1:9,10:19:99:320,0,234:127	0/1:8,13:21:99:375,0,244:127
10	82098146	.	C	T	5362.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17678338;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17678338" target="_blank">rs17678338</a>;ExAC.Info.AC=16227;ExAC.Info.AN=126208;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=11375;ExAC.Info.AC_Hom=1269;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=26;snpeff.Amino_Acid_Change=c.*26G>A;snpeff.Amino_Acid_length=184;snpeff.Gene_Name=DYDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYDC1" target="_blank">DYDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421924;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372204;SAVANT_GENE=DYDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYDC1" target="_blank">DYDC1</a>;SAVANT_INFO=-/20.6kb/8/0.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.504+77G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DYDC1+c.504+77G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82098146">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,30:67:99:949,0,1142:127	0|0:75,0:75:99:0,225,2730:127	1|0:46,37:83:99:1165,0,1484:127
10	82122793	.	G	A	12332.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=612;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1538818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1538818" target="_blank">rs1538818</a>;ExAC.Info.AC=17235;ExAC.Info.AN=126702;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=13964;ExAC.Info.AC_Hom=1626;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu92Glu/c.276G>A;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=DYDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYDC2" target="_blank">DYDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372198;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372199;SAVANT_GENE=DYDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYDC2" target="_blank">DYDC2</a>;SAVANT_INFO=+/23.3kb/6/2.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.234G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DYDC2+c.234G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82122793">View</a>	GT:AD:DP:GQ:PL:TP	1|0:89,112:201:99:3030,0,2548:127	0|0:253,1:254:99:0,725,8920:127	1|0:90,67:157:99:1811,0,2851:127
10	82182296	.	G	A	8098.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1870142;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1870142" target="_blank">rs1870142</a>;ExAC.Info.AC=99582;ExAC.Info.AN=126694;ExAC.Info.AF=0.786;ExAC.Info.AC_Het=19825;ExAC.Info.AC_Hom=39524;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.270+32G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=FAM213A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM213A" target="_blank">FAM213A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372188;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Thioredoxin_fold];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.271G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=FAM213A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM213A" target="_blank">FAM213A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372188;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Thioredoxin_fold];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.271G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=FAM213A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM213A" target="_blank">FAM213A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372188;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Thioredoxin_fold];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.271G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=FAM213A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM213A" target="_blank">FAM213A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372188;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372181;SAVANT_GENE=C10orf58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf58" target="_blank">C10orf58</a>;SAVANT_INFO=+/13.0kb/5/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.270+32G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf58+c.270+32G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82182296">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,28:75:99:706,0,1521:127	0/1:45,46:91:99:1301,0,1250:127	0/1:45,41:86:99:1077,0,1218:127
10	82182328	.	G	A	1908.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1870143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1870143" target="_blank">rs1870143</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.270+64G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=FAM213A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM213A" target="_blank">FAM213A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372188;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Thioredoxin_fold];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.271G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=FAM213A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM213A" target="_blank">FAM213A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372188;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Thioredoxin_fold];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.271G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=FAM213A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM213A" target="_blank">FAM213A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372188;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Thioredoxin_fold];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.271G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=FAM213A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM213A" target="_blank">FAM213A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372188;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372181;SAVANT_GENE=C10orf58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf58" target="_blank">C10orf58</a>;SAVANT_INFO=+/13.0kb/5/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.270+64G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf58+c.270+64G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82182328">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2265:127	0|1:42,33:75:99:973,0,1245:127	0|0:66,0:66:99:0,198,2191:127
10	82187293	.	G	A	3926.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12768957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12768957" target="_blank">rs12768957</a>;ExAC.Info.AC=20194;ExAC.Info.AN=126686;ExAC.Info.AF=0.159;ExAC.Info.AC_Het=15966;ExAC.Info.AC_Hom=2049;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.576+41G>A;snpeff.Amino_Acid_length=229;snpeff.Gene_Name=FAM213A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM213A" target="_blank">FAM213A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372188;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372181;SAVANT_GENE=C10orf58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf58" target="_blank">C10orf58</a>;SAVANT_INFO=+/13.0kb/5/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.576+41G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf58+c.576+41G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82187293">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,26:45:99:698,0,535:127	0|0:48,0:48:99:0,144,1805:127	1|0:18,30:48:99:827,0,530:127
10	82249108	.	C	T	4582.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7902355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7902355" target="_blank">rs7902355</a>;ExAC.Info.AC=16665;ExAC.Info.AN=108230;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=5087;ExAC.Info.AC_Hom=991;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.81+38C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=TSPAN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN14" target="_blank">TSPAN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000429989;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429989;SAVANT_GENE=TSPAN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN14" target="_blank">TSPAN14</a>;SAVANT_INFO=+/68.5kb/9/5.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.81+38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN14+c.81+38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82249108">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,25:52:99:683,0,675:87	0|1:18,15:33:99:475,0,500:87	1|1:0,29:29:87:1010,87,0:87
10	82264423	.	G	A	5436.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2343550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2343550" target="_blank">rs2343550</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.82-61G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=TSPAN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN14" target="_blank">TSPAN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000429989;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429989;SAVANT_GENE=TSPAN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN14" target="_blank">TSPAN14</a>;SAVANT_INFO=+/68.5kb/9/5.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.82-61G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN14+c.82-61G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82264423">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,21:36:99:567,0,504:127	0|0:49,0:49:99:0,147,1974:127	1|1:0,56:56:99:1940,168,0:127
10	82276061	.	C	T	2957.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72821609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72821609" target="_blank">rs72821609</a>;ExAC.Info.AC=2769;ExAC.Info.AN=126704;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2669;ExAC.Info.AC_Hom=50;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile241Ile/c.723C>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=TSPAN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN14" target="_blank">TSPAN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000429989;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429989;SAVANT_GENE=TSPAN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN14" target="_blank">TSPAN14</a>;SAVANT_INFO=+/68.5kb/9/5.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.723C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN14+c.723C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82276061">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2376:127	0|1:54,52:106:99:1497,0,1554:127	0|0:60,0:60:99:0,180,2035:127
10	82280387	.	G	A	3300.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72821613;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72821613" target="_blank">rs72821613</a>;ExAC.Info.AC=2002;ExAC.Info.AN=119946;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=1949;ExAC.Info.AC_Hom=24;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2655;snpeff.Amino_Acid_Change=c.*2655G>A;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=TSPAN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN14" target="_blank">TSPAN14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000429989;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429989;SAVANT_GENE=TSPAN14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN14" target="_blank">TSPAN14</a>;SAVANT_INFO=+/68.5kb/9/5.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2655G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN14+c.*2655G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82280387">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,321,3641:127	0|0:142,0:142:99:0,427,5041:127	0|1:60,62:122:99:1669,0,1635:127
10	82331292	.	G	A	2194.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=205;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72805712;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72805712" target="_blank">rs72805712</a>;ExAC.Info.AC=13848;ExAC.Info.AN=126704;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=11975;ExAC.Info.AC_Hom=930;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450G>A;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SH2D4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D4B" target="_blank">SH2D4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000470604;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450G>A;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SH2D4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D4B" target="_blank">SH2D4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000470604;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450G>A;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SH2D4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D4B" target="_blank">SH2D4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000470604;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450G>A;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SH2D4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D4B" target="_blank">SH2D4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000470604;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys150Lys/c.450G>A;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SH2D4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D4B" target="_blank">SH2D4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000470604;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339284;SAVANT_GENE=SH2D4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D4B" target="_blank">SH2D4B</a>;SAVANT_INFO=+/108.7kb/7/4.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.453G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH2D4B+c.453G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82331292">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2054:127	0|0:81,0:81:99:0,243,2947:127	0|1:32,34:66:99:1116,0,920:127
10	82369219	.	T	A	6377.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17107368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17107368" target="_blank">rs17107368</a>;ExAC.Info.AC=21573;ExAC.Info.AN=126704;ExAC.Info.AF=0.170;ExAC.Info.AC_Het=17347;ExAC.Info.AC_Hom=2111;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaA;snpeff.Amino_Acid_Change=p.Asp298Glu/c.894T>A;snpeff.Amino_Acid_length=431;snpeff.Gene_Name=SH2D4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D4B" target="_blank">SH2D4B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000470604;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339284;SAVANT_GENE=SH2D4B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2D4B" target="_blank">SH2D4B</a>;SAVANT_INFO=+/108.7kb/7/4.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.897T>A_p.Asp299Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH2D4B+c.897T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:82369219">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,36:69:99:1015,0,968:127	0/1:31,24:55:99:651,0,928:127	0/1:27,27:54:99:886,0,754:127
10	83819125	.	T	G	47929.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=620;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4933824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4933824" target="_blank">rs4933824</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.823+183206T>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser/Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.824T>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser/Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.824T>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.824T>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.824T>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.824T>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.824T>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.824T>G;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372141;SAVANT_GENE=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;SAVANT_INFO=+/1110.3kb/9/2.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.823+183206T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRG3+c.823+183206T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:83819125">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,199:199:99:6923,597,0:127	1|1:0,240:240:99:8235,721,0:127	1|1:0,181:181:99:6401,544,0:127
10	84625107	.	C	T	42265.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs478010;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=478010" target="_blank">rs478010</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1028-60C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1028C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1028C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1028C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1028C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1028C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372141;SAVANT_GENE=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;SAVANT_INFO=+/1110.3kb/9/2.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1028-60C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRG3+c.1028-60C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:84625107">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,166:166:99:5352,499,0:127	1|1:0,218:218:99:7143,655,0:127	1|1:0,169:169:99:5516,508,0:127
10	84711147	.	C	T	10233.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4933861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4933861" target="_blank">rs4933861</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1055-78C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1055C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1055C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1055C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1055C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1055C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372141;SAVANT_GENE=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;SAVANT_INFO=+/1110.3kb/9/2.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1055-78C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRG3+c.1055-78C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:84711147">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:1811,174,0:127	1|1:0,62:62:99:2094,186,0:127	1|0:51,24:75:99:589,0,1398:127
10	84745256	.	C	T	14470.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2295933;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295933" target="_blank">rs2295933</a>;ExAC.Info.AC=48238;ExAC.Info.AN=126688;ExAC.Info.AF=0.381;ExAC.Info.AC_Het=28183;ExAC.Info.AC_Hom=9983;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2058C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2058C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2058C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2058C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2058C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2058C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser686Ser/c.2058C>T;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404547;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372141;SAVANT_GENE=NRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRG3" target="_blank">NRG3</a>;SAVANT_INFO=+/1110.3kb/9/2.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1986C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRG3+c.1986C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:84745256">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,59:136:99:1534,0,2166:127	1|1:0,136:136:99:4890,409,0:127	0|0:103,0:103:99:0,309,3635:127
10	85902394	.	G	C	14001.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3816716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3816716" target="_blank">rs3816716</a>;ExAC.Info.AC=34554;ExAC.Info.AN=125270;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=23918;ExAC.Info.AC_Hom=5200;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.130-17G>C;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=GHITM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GHITM" target="_blank">GHITM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372134;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130G>C;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=GHITM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GHITM" target="_blank">GHITM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372134;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.130G>C;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=GHITM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GHITM" target="_blank">GHITM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372134;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372134;SAVANT_GENE=GHITM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GHITM" target="_blank">GHITM</a>;SAVANT_INFO=+/13.8kb/9/2.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.130-17G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GHITM+c.130-17G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85902394">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,52:109:99:1499,0,1663:127	1|1:0,139:139:99:4955,418,0:127	0|0:127,0:127:99:0,381,4491:127
10	85944313	.	A	T	4685.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs12250279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12250279" target="_blank">rs12250279</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.161-124A>T;snpeff.Amino_Acid_length=81;snpeff.Gene_Name=C10orf99;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf99" target="_blank">C10orf99</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372126;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372126;SAVANT_GENE=C10orf99;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf99" target="_blank">C10orf99</a>;SAVANT_INFO=+/11.6kb/3/0.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.161-124A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf99+c.161-124A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85944313">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,21:42:99:465,0,625:127	0|1:29,23:52:99:486,0,912:127	1|1:0,43:43:99:1207,129,0:127
10	85960296	.	C	T	8687.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cone-rod_dystrophy_15|_613660_(3)|_Retinitis_pigmentosa_65|_613660_(3);dbSNP139.ID=rs10788334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10788334" target="_blank">rs10788334</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.439-61C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.439C>T;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372117;SAVANT_GENE=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;SAVANT_INFO=+/22.7kb/17/5.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.439-61C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR1+c.439-61C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85960296">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,29:55:99:806,0,793:127	0|1:39,43:82:99:1232,0,1165:127	1|1:0,47:47:99:1633,141,0:127
10	85960395	.	A	G	12670.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cone-rod_dystrophy_15|_613660_(3)|_Retinitis_pigmentosa_65|_613660_(3);dbSNP139.ID=rs4933975;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4933975" target="_blank">rs4933975</a>;ExAC.Info.AC=59636;ExAC.Info.AN=126648;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=29872;ExAC.Info.AC_Hom=13690;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala159Ala/c.477A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372117;SAVANT_GENE=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;SAVANT_INFO=+/22.7kb/17/5.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.477A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR1+c.477A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85960395">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,44:92:99:1285,0,1266:127	0|1:62,66:128:99:1734,0,1718:127	1|1:0,80:80:99:2695,240,0:127
10	85961758	.	A	G	6278.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cone-rod_dystrophy_15|_613660_(3)|_Retinitis_pigmentosa_65|_613660_(3);dbSNP139.ID=rs11200922;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11200922" target="_blank">rs11200922</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.639+82A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372117;SAVANT_GENE=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;SAVANT_INFO=+/22.7kb/17/5.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.639+82A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR1+c.639+82A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85961758">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,24:59:99:716,0,1050:125	0|1:28,22:50:99:656,0,861:125	1|1:0,42:42:99:1452,126,0:125
10	85971347	.	G	A	12231.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cone-rod_dystrophy_15|_613660_(3)|_Retinitis_pigmentosa_65|_613660_(3);dbSNP139.ID=rs4933978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4933978" target="_blank">rs4933978</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1486-57G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486G>A;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372117;SAVANT_GENE=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;SAVANT_INFO=+/22.7kb/17/5.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1486-57G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR1+c.1486-57G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85971347">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,45:92:99:1118,0,1446:127	0|1:55,60:115:99:1613,0,1581:127	1|1:0,71:71:99:2450,213,0:127
10	85972043	.	A	G	28504.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=598;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cone-rod_dystrophy_15|_613660_(3)|_Retinitis_pigmentosa_65|_613660_(3);dbSNP139.ID=rs10749482;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10749482" target="_blank">rs10749482</a>;ExAC.Info.AC=44970;ExAC.Info.AN=126704;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=27204;ExAC.Info.AC_Hom=8882;snpeff.Effect=sequence_feature[domain:Cadherin_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu554Glu/c.1662A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372117;SAVANT_GENE=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;SAVANT_INFO=+/22.7kb/17/5.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1662A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR1+c.1662A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85972043">View</a>	GT:AD:DP:GQ:PL:TP	1|0:111,68:179:99:1900,0,3313:127	0|1:103,121:224:99:3607,0,3001:127	1|1:1,194:195:99:6879,547,0:127
10	85974236	.	T	C	16027.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cone-rod_dystrophy_15|_613660_(3)|_Retinitis_pigmentosa_65|_613660_(3);dbSNP139.ID=rs3814213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814213" target="_blank">rs3814213</a>;ExAC.Info.AC=67431;ExAC.Info.AN=126688;ExAC.Info.AF=0.532;ExAC.Info.AC_Het=30498;ExAC.Info.AC_Hom=18393;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2439T>C;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2439T>C;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr813Thr/c.2439T>C;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372117;SAVANT_GENE=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;SAVANT_INFO=+/22.7kb/17/5.4kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2439T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR1+c.2439T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85974236">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,50:106:99:1472,0,1750:127	0|1:63,65:128:99:1933,0,2018:127	1|1:0,90:90:99:3295,271,0:127
10	85974381	.	A	G	7681.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cone-rod_dystrophy_15|_613660_(3)|_Retinitis_pigmentosa_65|_613660_(3);dbSNP139.ID=rs3814212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814212" target="_blank">rs3814212</a>;ExAC.Info.AC=73716;ExAC.Info.AN=126020;ExAC.Info.AF=0.585;ExAC.Info.AC_Het=28714;ExAC.Info.AC_Hom=22003;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=4;snpeff.Amino_Acid_Change=c.*4A>G;snpeff.Amino_Acid_length=859;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372117;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372117;SAVANT_GENE=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;SAVANT_INFO=+/22.7kb/17/5.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*4A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR1+c.*4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85974381">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,26:65:99:720,0,1110:123	0|1:39,35:74:99:958,0,1041:123	1|1:0,41:41:99:1404,123,0:123
10	85978939	.	G	A	30113.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=673;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4244947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4244947" target="_blank">rs4244947</a>;ExAC.Info.AC=9991;ExAC.Info.AN=21766;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=4684;ExAC.Info.AC_Hom=2299;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85978939">View</a>	GT:AD:DP:GQ:PL:TP	1|0:104,99:203:99:2563,0,3043:127	0|1:121,126:247:99:3481,0,3502:127	1|1:0,223:223:99:7318,670,0:127
10	85978991	.	C	T	23063.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=492;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7895270;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7895270" target="_blank">rs7895270</a>;ExAC.Info.AC=5482;ExAC.Info.AN=22332;ExAC.Info.AF=0.245;ExAC.Info.AC_Het=3668;ExAC.Info.AC_Hom=731;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CDHR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR1" target="_blank">CDHR1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85978991">View</a>	GT:AD:DP:GQ:PL:TP	1|0:84,69:153:99:1948,0,2349:127	0|1:91,90:181:99:2638,0,2568:127	1|1:0,158:158:99:5476,475,0:127
10	85981801	.	T	G	13159.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6585847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6585847" target="_blank">rs6585847</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=62465;ExAC.Info.AN=126574;ExAC.Info.AF=0.494;ExAC.Info.AC_Het=29957;ExAC.Info.AC_Hom=15657;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Ccc;snpeff.Amino_Acid_Change=p.Thr520Pro/c.1558A>C;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=LRIT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT2" target="_blank">LRIT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538192;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372113;SAVANT_GENE=LRIT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT2" target="_blank">LRIT2</a>;SAVANT_INFO=-/5.0kb/3/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1528A>C_p.Thr510Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRIT2+c.1528A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85981801">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,42:95:99:1304,0,1529:127	0|1:65,53:118:99:1481,0,1977:127	1|1:0,82:82:99:2842,246,0:127
10	85985331	.	C	T	8923.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7898778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7898778" target="_blank">rs7898778</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=55;snpeff.Amino_Acid_Change=c.-55G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=LRIT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT2" target="_blank">LRIT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000538192;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT2" target="_blank">LRIT2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRIT2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85985331">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,32:67:99:954,0,941:127	0|1:36,40:76:99:1216,0,1043:127	1|1:0,54:54:99:1929,162,0:127
10	85992478	.	T	C	14357.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3814210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814210" target="_blank">rs3814210</a>;ExAC.Info.AC=54478;ExAC.Info.AN=126698;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=28709;ExAC.Info.AC_Hom=12663;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1077T>C;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1077T>C;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1077T>C;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1077T>C;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly359Gly/c.1077A>G;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372105;SAVANT_GENE=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;SAVANT_INFO=-/9.9kb/4/2.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1077A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRIT1+c.1077A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85992478">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,53:103:99:1459,0,1328:127	0|1:52,52:104:99:1472,0,1541:127	1|1:0,101:101:99:3404,303,0:127
10	85992511	.	T	C	14633.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3814209;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814209" target="_blank">rs3814209</a>;ExAC.Info.AC=54514;ExAC.Info.AN=126696;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=28715;ExAC.Info.AC_Hom=12772;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1044T>C;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1044T>C;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1044T>C;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1044T>C;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro348Pro/c.1044A>G;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372105;SAVANT_GENE=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;SAVANT_INFO=-/9.9kb/4/2.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1044A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRIT1+c.1044A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85992511">View</a>	GT:AD:DP:GQ:PL:TP	1|0:45,57:102:99:1451,0,1167:127	0|1:57,50:107:99:1550,0,1589:127	1|1:0,103:103:99:3504,309,0:127
10	85993910	.	G	A	4548.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3814206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814206" target="_blank">rs3814206</a>;ExAC.Info.AC=62742;ExAC.Info.AN=126680;ExAC.Info.AF=0.495;ExAC.Info.AC_Het=29981;ExAC.Info.AC_Hom=16293;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.814G>A;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.814G>A;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.814G>A;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.814G>A;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.814G>A;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.814G>A;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu272Leu/c.814C>T;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372105;SAVANT_GENE=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;SAVANT_INFO=-/9.9kb/4/2.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.814C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRIT1+c.814C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85993910">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,18:35:99:526,0,552:99	0|1:16,16:32:99:452,0,536:99	1|1:0,33:33:99:1164,99,0:99
10	85994142	.	A	G	7970.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3829858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829858" target="_blank">rs3829858</a>;ExAC.Info.AC=61374;ExAC.Info.AN=124918;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=27097;ExAC.Info.AC_Hom=15386;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.590-8T>C;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.590A>G;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.590A>G;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.590A>G;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.590A>G;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.590T>C;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372105;SAVANT_GENE=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;SAVANT_INFO=-/9.9kb/4/2.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.590-8T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRIT1+c.590-8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85994142">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,37:69:99:1091,0,964:127	0|1:31,20:51:99:578,0,942:127	1|1:0,54:54:99:1966,162,0:127
10	85997250	.	G	A	6898.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10887259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10887259" target="_blank">rs10887259</a>;ExAC.Info.AC=44011;ExAC.Info.AN=120924;ExAC.Info.AF=0.364;ExAC.Info.AC_Het=20283;ExAC.Info.AC_Hom=7294;snpeff.Effect=sequence_feature[repeat:LRR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315G>A;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315G>A;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315G>A;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315G>A;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.315G>A;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly105Gly/c.315C>T;snpeff.Amino_Acid_length=623;snpeff.Gene_Name=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372105;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372105;SAVANT_GENE=LRIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRIT1" target="_blank">LRIT1</a>;SAVANT_INFO=-/9.9kb/4/2.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.315C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRIT1+c.315C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:85997250">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,19:41:99:482,0,665:108	0|1:17,26:43:99:721,0,496:108	1|1:1,49:50:99:1653,108,0:108
10	86131059	.	A	G	1522.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3814205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814205" target="_blank">rs3814205</a>;ExAC.Info.AC=29496;ExAC.Info.AN=126652;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=21534;ExAC.Info.AC_Hom=3897;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn84Ser/c.251A>G;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=CCSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCSER2" target="_blank">CCSER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372088;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224756;SAVANT_GENE=FAM190B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM190B" target="_blank">FAM190B</a>;SAVANT_INFO=+/189.9kb/11/7.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.251A>G_p.Asn84Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM190B+c.251A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:86131059">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2588:127	0|0:103,0:103:99:0,310,3549:127	0|1:40,28:68:99:780,0,1251:127
10	86185654	.	T	G	17056.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1336202;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1336202" target="_blank">rs1336202</a>;ExAC.Info.AC=126621;ExAC.Info.AN=126662;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=37;ExAC.Info.AC_Hom=62927;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1868+5T>G;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=CCSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCSER2" target="_blank">CCSER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372088;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1869T>G;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=CCSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCSER2" target="_blank">CCSER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372088;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224756;SAVANT_GENE=FAM190B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM190B" target="_blank">FAM190B</a>;SAVANT_INFO=+/189.9kb/11/7.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1868+5T>G;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SS5;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM190B+c.1868+5T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:86185654">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2581,207,0:127	1|1:0,71:71:99:2632,213,0:127	1|1:0,65:65:99:2376,195,0:127
10	86223795	.	G	A	1108.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11598369;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11598369" target="_blank">rs11598369</a>;ExAC.Info.AC=29218;ExAC.Info.AN=126634;ExAC.Info.AF=0.231;ExAC.Info.AC_Het=21044;ExAC.Info.AC_Hom=3701;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2148+23G>A;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=CCSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCSER2" target="_blank">CCSER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372088;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2149G>A;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=CCSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCSER2" target="_blank">CCSER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372088;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2149G>A;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=CCSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCSER2" target="_blank">CCSER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372088;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2149G>A;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=CCSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCSER2" target="_blank">CCSER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372088;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224756;SAVANT_GENE=FAM190B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM190B" target="_blank">FAM190B</a>;SAVANT_INFO=+/189.9kb/11/7.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2148+23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM190B+c.2148+23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:86223795">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1939:127	0|0:59,0:59:99:0,177,2147:127	0|1:31,23:54:99:573,0,1057:127
10	86237505	.	G	A	1814.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11594873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11594873" target="_blank">rs11594873</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2325+85G>A;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=CCSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCSER2" target="_blank">CCSER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372088;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224756;SAVANT_GENE=FAM190B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM190B" target="_blank">FAM190B</a>;SAVANT_INFO=+/189.9kb/11/7.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.2325+85G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM190B+c.2325+85G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:86237505">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,193,2455:127	0|0:86,0:86:99:0,259,3356:127	0|1:38,32:70:99:926,0,1256:127
10	86273249	.	T	C	3732.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11557865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11557865" target="_blank">rs11557865</a>;ExAC.Info.AC=29621;ExAC.Info.AN=126696;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=21658;ExAC.Info.AC_Hom=3967;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp790Asp/c.2370T>C;snpeff.Amino_Acid_length=1047;snpeff.Gene_Name=CCSER2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCSER2" target="_blank">CCSER2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372088;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224756;SAVANT_GENE=FAM190B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM190B" target="_blank">FAM190B</a>;SAVANT_INFO=+/189.9kb/11/7.7kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2455T>C_p.Ser819Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM190B+c.2455T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:86273249">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,279,2943:127	0|0:122,1:123:99:0,327,4085:127	0|1:62,63:125:99:1885,0,1749:127
10	87361961	.	G	A	1890.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1054979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1054979" target="_blank">rs1054979</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=69;snpeff.Amino_Acid_Change=c.*69C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327946;SAVANT_GENE=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;SAVANT_INFO=-/766.9kb/16/5.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*69C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRID1+c.*69C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:87361961">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,10:31:99:198,0,689:57	1|0:15,22:37:99:650,0,470:57	0|0:19,0:19:57:0,57,718:57
10	87898729	.	G	A	10308.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=538;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17106320;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17106320" target="_blank">rs17106320</a>;ExAC.Info.AC=18631;ExAC.Info.AN=126704;ExAC.Info.AF=0.147;ExAC.Info.AC_Het=15353;ExAC.Info.AC_Hom=1638;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp191Asp/c.573C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327946;SAVANT_GENE=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;SAVANT_INFO=-/766.9kb/16/5.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.573C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRID1+c.573C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:87898729">View</a>	GT:AD:DP:GQ:PL:TP	0|1:95,74:169:99:1929,0,2665:127	1|0:101,71:172:99:1787,0,2892:127	0|0:197,0:197:99:0,592,6867:127
10	88024443	.	T	C	7761.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2607863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2607863" target="_blank">rs2607863</a>;ExAC.Info.AC=97501;ExAC.Info.AN=102080;ExAC.Info.AF=0.955;ExAC.Info.AC_Het=715;ExAC.Info.AC_Hom=13572;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.236-58038A>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236T>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236T>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236T>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236T>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236T>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236T>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236T>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236T>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236T>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236T>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236T>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327946;SAVANT_GENE=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;SAVANT_INFO=-/766.9kb/16/5.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.236-58038A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRID1+c.236-58038A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88024443">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1195,102,0:77	1|1:0,33:33:99:1173,99,0:77	1|1:0,26:26:78:933,78,0:77
10	88024553	.	C	T	15999.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10887569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10887569" target="_blank">rs10887569</a>;ExAC.Info.AC=59119;ExAC.Info.AN=114592;ExAC.Info.AF=0.516;ExAC.Info.AC_Het=9071;ExAC.Info.AC_Hom=6682;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.236-58148G>A;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327946;SAVANT_GENE=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;SAVANT_INFO=-/766.9kb/16/5.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.236-58148G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRID1+c.236-58148G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88024553">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1629,152,0:127	1|1:0,89:89:99:2868,267,0:127	1|1:0,59:59:99:1979,177,0:127
10	88126056	.	T	G	25119.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11202000;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11202000" target="_blank">rs11202000</a>;ExAC.Info.AC=81405;ExAC.Info.AN=88518;ExAC.Info.AF=0.920;ExAC.Info.AC_Het=842;ExAC.Info.AC_Hom=8517;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.79+15A>C;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80T>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80T>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80T>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80T>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80T>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80T>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80T>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80T>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80T>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80T>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80T>G;snpeff.Amino_Acid_length=1009;snpeff.Gene_Name=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327946;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000327946;SAVANT_GENE=GRID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRID1" target="_blank">GRID1</a>;SAVANT_INFO=-/766.9kb/16/5.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.79+15A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRID1+c.79+15A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88126056">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2165,207,0:127	1|1:0,101:101:99:3368,303,0:127	1|1:0,90:90:99:2976,270,0:127
10	88203068	.	T	C	42359.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=569;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7094132;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7094132" target="_blank">rs7094132</a>;ExAC.Info.AC=110394;ExAC.Info.AN=126704;ExAC.Info.AF=0.871;ExAC.Info.AC_Het=12811;ExAC.Info.AC_Hom=48783;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3375T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr1125Thr/c.3375A>G;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298767;SAVANT_GENE=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;SAVANT_INFO=-/86.5kb/19/6.3kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.3375A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WAPAL+c.3375A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88203068">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,194:194:99:6166,583,0:127	1|1:0,211:211:99:6693,632,0:127	1|1:0,164:164:99:5169,492,0:127
10	88230874	.	G	A	26582.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=344;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2288362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2288362" target="_blank">rs2288362</a>;ExAC.Info.AC=101680;ExAC.Info.AN=126688;ExAC.Info.AF=0.803;ExAC.Info.AC_Het=18295;ExAC.Info.AC_Hom=41139;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2031-14C>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WAPL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298767;SAVANT_GENE=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;SAVANT_INFO=-/86.5kb/19/6.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2031-14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WAPAL+c.2031-14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88230874">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,105:105:99:3612,316,0:127	1|1:0,114:114:99:3984,343,0:127	1|1:0,125:125:99:4326,376,0:127
10	88233628	.	C	G	23923.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3758520;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758520" target="_blank">rs3758520</a>;ExAC.Info.AC=45193;ExAC.Info.AN=126702;ExAC.Info.AF=0.357;ExAC.Info.AC_Het=28074;ExAC.Info.AC_Hom=8547;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1740+7G>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1741C>G;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1741C>G;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1741C>G;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1741C>G;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1741C>G;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1741C>G;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1741G>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298767;SAVANT_GENE=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;SAVANT_INFO=-/86.5kb/19/6.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1740+7G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WAPAL+c.1740+7G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88233628">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:4237,345,0:127	1|0:68,67:135:99:2090,0,2074:127	1|1:0,116:116:99:4306,349,0:127
10	88256943	.	C	T	19374.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4934215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4934215" target="_blank">rs4934215</a>;ExAC.Info.AC=120561;ExAC.Info.AN=126674;ExAC.Info.AF=0.952;ExAC.Info.AC_Het=5422;ExAC.Info.AC_Hom=57392;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1644+15G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645C>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645C>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645C>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645C>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645C>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_the_cohesin_complex];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645C>T;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298767;SAVANT_GENE=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;SAVANT_INFO=-/86.5kb/19/6.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1644+15G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WAPAL+c.1644+15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88256943">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2364,213,0:127	1|1:0,94:94:99:3381,283,0:127	1|1:0,78:78:99:2934,235,0:127
10	88281344	.	C	G	1612.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2289738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2289738" target="_blank">rs2289738</a>;ExAC.Info.AC=5561;ExAC.Info.AN=18892;ExAC.Info.AF=0.294;ExAC.Info.AC_Het=2735;ExAC.Info.AC_Hom=1071;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3518;snpeff.Amino_Acid_Change=c.-245G>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298767;SAVANT_GENE=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;SAVANT_INFO=-/86.5kb/19/6.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-3518G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WAPAL+c.-3518G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88281344">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,1363:116	0|1:24,25:49:99:825,0,732:116	0|0:56,0:56:99:0,168,2093:116
10	88281346	.	A	G	13341.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4934218;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4934218" target="_blank">rs4934218</a>;ExAC.Info.AC=15281;ExAC.Info.AN=15310;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=6456;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3520;snpeff.Amino_Acid_Change=c.-247T>C;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298767;SAVANT_GENE=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;SAVANT_INFO=-/86.5kb/19/6.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-3520T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WAPAL+c.-3520T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88281346">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1372,117,0:127	1|1:0,52:52:99:2100,156,0:127	1|1:0,52:52:99:1854,155,0:127
10	88281367	.	C	T	3183.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs142142942;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142142942" target="_blank">rs142142942</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3541;snpeff.Amino_Acid_Change=c.-268G>A;snpeff.Amino_Acid_length=1190;snpeff.Gene_Name=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298767;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298767;SAVANT_GENE=WAPAL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WAPAL" target="_blank">WAPAL</a>;SAVANT_INFO=-/86.5kb/19/6.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-3541G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WAPAL+c.-3541G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88281367">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,15:34:99:432,0,588:125	1|0:22,20:42:99:623,0,755:125	0|0:42,0:42:99:0,126,1652:125
10	88414569	.	C	T	270.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2675703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2675703" target="_blank">rs2675703</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Seasonal_affective_disorder|_association_with;hgmd_2014.2.OMIM_ID=606665;hgmd_2014.2.PubMed=18804284;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=18804284" target="_blank">18804284</a>;ExAC.Info.AC=13323;ExAC.Info.AN=126682;ExAC.Info.AF=0.105;ExAC.Info.AC_Het=11702;ExAC.Info.AC_Hom=792;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro10Leu/c.29C>T;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=OPN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN4" target="_blank">OPN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000443292;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000372071;SAVANT_GENE=OPN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN4" target="_blank">OPN4</a>;SAVANT_INFO=+/11.9kb/11/2.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.29C>T_p.Pro10Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPN4+c.29C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88414569">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1116:92	0|0:51,0:51:99:0,153,1699:92	0|1:13,6:19:99:154,0,383:92
10	88422116	.	C	T	388.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1079610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1079610" target="_blank">rs1079610</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Pupillary_light_response|_association_with;hgmd_2014.2.OMIM_ID=606665;hgmd_2014.2.PubMed=23555953;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23555953" target="_blank">23555953</a>;ExAC.Info.AC=82816;ExAC.Info.AN=123928;ExAC.Info.AF=0.668;ExAC.Info.AC_Het=16551;ExAC.Info.AC_Hom=19732;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aTc;snpeff.Amino_Acid_Change=p.Thr405Ile/c.1214C>T;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=OPN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN4" target="_blank">OPN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000443292;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000372071;SAVANT_GENE=OPN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN4" target="_blank">OPN4</a>;SAVANT_INFO=+/11.9kb/11/2.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1214C>T_p.Thr405Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPN4+c.1214C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88422116">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,1123:85	0|0:30,0:30:90:0,90,1095:85	0|1:14,8:22:99:213,0,399:85
10	88425555	.	C	A	1986.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2803554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2803554" target="_blank">rs2803554</a>;ExAC.Info.AC=17472;ExAC.Info.AN=126674;ExAC.Info.AF=0.138;ExAC.Info.AC_Het=15909;ExAC.Info.AC_Hom=1290;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1432-996C>A;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=OPN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN4" target="_blank">OPN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000443292;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000372071;SAVANT_GENE=OPN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPN4" target="_blank">OPN4</a>;SAVANT_INFO=+/11.9kb/11/2.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*47C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPN4+c.*47C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88425555">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,3078:127	0|0:114,0:114:99:0,342,3910:127	0|1:46,42:88:99:1012,0,1380:127
10	88445385	.	G	C	7875.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Myopathy|_myofibrillar|_4|_609452_(3)|_Cardiomyopathy|_dilated_1C|_601493_(3)|_Left_ventricular_noncompaction_3|_with_or_without_dilated_cardiomyopathy|_601493_(3);dbSNP139.ID=rs3740345;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740345" target="_blank">rs3740345</a>;ExAC.Info.AC=86056;ExAC.Info.AN=125478;ExAC.Info.AF=0.686;ExAC.Info.AC_Het=25091;ExAC.Info.AC_Hom=30394;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.690-1441G>C;snpeff.Amino_Acid_length=732;snpeff.Gene_Name=LDB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDB3" target="_blank">LDB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000429277;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429277;SAVANT_GENE=LDB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDB3" target="_blank">LDB3</a>;SAVANT_INFO=+/67.6kb/14/5.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.690-1441G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDB3+c.690-1441G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88445385">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,36:73:99:1063,0,1025:127	0|0:131,0:131:99:0,393,4645:127	1|1:0,65:65:99:2465,195,0:127
10	88466465	.	C	T	4459.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Myopathy|_myofibrillar|_4|_609452_(3)|_Cardiomyopathy|_dilated_1C|_601493_(3)|_Left_ventricular_noncompaction_3|_with_or_without_dilated_cardiomyopathy|_601493_(3);dbSNP139.ID=rs45459491;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45459491" target="_blank">rs45459491</a>;ExAC.Info.AC=4323;ExAC.Info.AN=126228;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=3946;ExAC.Info.AC_Hom=119;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1101-3197C>T;snpeff.Amino_Acid_length=732;snpeff.Gene_Name=LDB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDB3" target="_blank">LDB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000429277;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000429277;SAVANT_GENE=LDB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDB3" target="_blank">LDB3</a>;SAVANT_INFO=+/67.6kb/14/5.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1101-3197C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDB3+c.1101-3197C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88466465">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,22:47:99:612,0,694:127	1|1:0,43:43:99:1513,129,0:127	0|0:45,0:45:99:0,135,1581:127
10	88635779	.	C	A	6196.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=444;MQ=69.40;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Polyposis|_juvenile_intestinal|_174900_(3)|_Polyposis_syndrome|_hereditary_mixed|_2|_610069_(3)|_Juvenile_polyposis_syndrome|_infantile_form|_174900_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11528010;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11528010" target="_blank">rs11528010</a>;ExAC.Info.AC=45227;ExAC.Info.AN=126694;ExAC.Info.AF=0.357;ExAC.Info.AC_Het=25922;ExAC.Info.AC_Hom=9616;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000034703|RCV000120253|RCV000131909;Clinvar.PhenotypeIDs=MedGen:C0027672|MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4C>A;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4C>A;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Act;snpeff.Amino_Acid_Change=p.Pro2Thr/c.4C>A;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224764;SAVANT_GENE=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;SAVANT_INFO=+/168.5kb/13/3.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.4C>A_p.Pro2Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMPR1A+c.4C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88635779">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000034703%20OR%20RCV000120253%20OR%20RCV000131909" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:75,45:120:99:1085,0,2342:127	0|0:185,0:185:99:0,555,6435:127	1|0:76,63:139:99:1797,0,2321:127
10	88649763	.	C	T	9992.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Polyposis|_juvenile_intestinal|_174900_(3)|_Polyposis_syndrome|_hereditary_mixed|_2|_610069_(3)|_Juvenile_polyposis_syndrome|_infantile_form|_174900_(3);dbSNP139.ID=rs7087358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7087358" target="_blank">rs7087358</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.68-56C>T;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>T;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.68C>T;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224764;SAVANT_GENE=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;SAVANT_INFO=+/168.5kb/13/3.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.68-56C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMPR1A+c.68-56C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88649763">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,77:157:99:2100,0,2268:127	0|0:212,1:213:99:0,606,7252:127	1|0:95,88:183:99:2499,0,2591:127
10	88683122	.	T	C	14436.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=808;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Polyposis|_juvenile_intestinal|_174900_(3)|_Polyposis_syndrome|_hereditary_mixed|_2|_610069_(3)|_Juvenile_polyposis_syndrome|_infantile_form|_174900_(3);dbSNP139.ID=rs7074064;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7074064" target="_blank">rs7074064</a>;ExAC.Info.AC=44954;ExAC.Info.AN=126704;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=25841;ExAC.Info.AC_Hom=9531;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1343-11T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1343T>C;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372037;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224764;SAVANT_GENE=BMPR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A" target="_blank">BMPR1A</a>;SAVANT_INFO=+/168.5kb/13/3.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1343-11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BMPR1A+c.1343-11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88683122">View</a>	GT:AD:DP:GQ:PL:TP	1|0:116,110:226:99:3246,0,3263:127	0|0:287,1:288:99:0,855,9906:127	1|0:163,131:294:99:3772,0,4587:127
10	88702350	.	G	C	14114.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4934281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4934281" target="_blank">rs4934281</a>;ExAC.Info.AC=121831;ExAC.Info.AN=126670;ExAC.Info.AF=0.962;ExAC.Info.AC_Het=4506;ExAC.Info.AC_Hom=58367;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Gac;snpeff.Amino_Acid_Change=p.His731Asp/c.2191C>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372027;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372027;SAVANT_GENE=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;SAVANT_INFO=-/22.1kb/7/4.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.2191C>G_p.His731Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMRN2+c.2191C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88702350">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1850,156,0:127	1|1:0,55:55:99:2032,165,0:127	1|1:0,48:48:99:1774,144,0:127
10	88702390	.	G	A	6571.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10887673;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10887673" target="_blank">rs10887673</a>;ExAC.Info.AC=32518;ExAC.Info.AN=125576;ExAC.Info.AF=0.259;ExAC.Info.AC_Het=22183;ExAC.Info.AC_Hom=4543;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala717Ala/c.2151C>T;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372027;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372027;SAVANT_GENE=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;SAVANT_INFO=-/22.1kb/7/4.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.2151C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMRN2+c.2151C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88702390">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,18:45:99:446,0,863:127	1|1:0,44:44:99:1514,132,0:127	0|1:21,19:40:99:565,0,564:127
10	88705306	.	T	G	17151.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3750822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750822" target="_blank">rs3750822</a>;ExAC.Info.AC=21521;ExAC.Info.AN=124736;ExAC.Info.AF=0.173;ExAC.Info.AC_Het=10195;ExAC.Info.AC_Hom=1475;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.293+12A>C;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372027;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294T>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372027;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294T>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372027;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EMI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294T>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372027;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EMI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294T>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372027;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EMI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294T>G;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372027;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372027;SAVANT_GENE=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;SAVANT_INFO=-/22.1kb/7/4.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.293+12A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMRN2+c.293+12A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88705306">View</a>	GT:AD:DP:GQ:PL:TP	0|1:64,50:114:99:1214,0,1746:127	1|1:0,130:130:99:4247,390,0:127	0|1:68,63:131:99:1603,0,1719:127
10	88717140	.	T	A	3324.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=48;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4244973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4244973" target="_blank">rs4244973</a>;ExAC.Info.AC=123181;ExAC.Info.AN=126682;ExAC.Info.AF=0.972;ExAC.Info.AC_Het=3354;ExAC.Info.AC_Hom=59777;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtT;snpeff.Amino_Acid_Change=p.Val53Val/c.159A>T;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372027;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372027;SAVANT_GENE=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;SAVANT_INFO=-/22.1kb/7/4.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.159A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMRN2+c.159A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88717140">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,16:16:48:509,48,0:41	1|1:0,18:18:54:652,54,0:41	1|1:0,14:14:42:500,42,0:41
10	88717154	.	C	T	756.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=53;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3750823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750823" target="_blank">rs3750823</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=57117;ExAC.Info.AN=126682;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=29995;ExAC.Info.AC_Hom=13498;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly49Ser/c.145G>A;snpeff.Amino_Acid_length=949;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372027;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372027;SAVANT_GENE=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;SAVANT_INFO=-/22.1kb/7/4.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.145G>A_p.Gly49Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMRN2+c.145G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88717154">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,7:17:99:169,0,307:57	0|0:19,0:19:57:0,57,752:57	1|0:9,8:17:99:227,0,268:57
10	88719789	.	C	G	7671.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs760113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=760113" target="_blank">rs760113</a>;ExAC.Info.AC=28952;ExAC.Info.AN=126460;ExAC.Info.AF=0.229;ExAC.Info.AC_Het=20511;ExAC.Info.AC_Hom=3273;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.195C>G;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=SNCG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372017;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:4_X_11_AA_tandem_repeats_of__EGSA_-K-T-K-_EQ_-_GQ_-V-X_4_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.195C>G;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=SNCG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372017;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:4_X_11_AA_tandem_repeats_of__EGSA_-K-T-K-_EQ_-_GQ_-V-X_4_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.195C>G;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=SNCG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372017;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:4_X_11_AA_tandem_repeats_of__EGSA_-K-T-K-_EQ_-_GQ_-V-X_4_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.195C>G;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=SNCG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372017;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcG;snpeff.Amino_Acid_Change=p.Ala65Ala/c.195C>G;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=SNCG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372017;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372017;SAVANT_GENE=SNCG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNCG" target="_blank">SNCG</a>;SAVANT_INFO=+/4.6kb/5/0.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.195C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNCG+c.195C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88719789">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,40:67:99:1052,0,689:127	1|1:0,64:64:99:2112,192,0:127	0|1:36,17:53:99:319,0,1048:127
10	88722398	.	A	T	11372.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=241;MQ=69.90;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9864;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9864" target="_blank">rs9864</a>;ExAC.Info.AC=28319;ExAC.Info.AN=126650;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=21085;ExAC.Info.AC_Hom=3220;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MMRN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gTg;snpeff.Amino_Acid_Change=p.Glu110Val/c.329A>T;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=SNCG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMRN2" target="_blank">MMRN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372017;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372017;SAVANT_GENE=SNCG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNCG" target="_blank">SNCG</a>;SAVANT_INFO=+/4.6kb/5/0.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.329A>T_p.Glu110Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SNCG+c.329A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88722398">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,38:82:99:1031,0,1099:127	1|1:0,77:77:99:2654,231,0:127	0|1:43,39:82:99:1039,0,1144:127
10	88730106	.	C	T	4865.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2279602;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2279602" target="_blank">rs2279602</a>;ExAC.Info.AC=35161;ExAC.Info.AN=89582;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=5150;ExAC.Info.AC_Hom=2931;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.353G>A;snpeff.Gene_Name=RP11-96C23.15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96C2315" target="_blank">RP11-96C2315</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609363;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.963G>A;snpeff.Gene_Name=ADIRF-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96C2315" target="_blank">RP11-96C2315</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609111;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.124+87C>T;snpeff.Amino_Acid_length=76;snpeff.Gene_Name=ADIRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96C2315" target="_blank">RP11-96C2315</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372013;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372013;SAVANT_GENE=C10orf116;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf116" target="_blank">C10orf116</a>;SAVANT_INFO=+/2.7kb/3/0.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.124+87C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf116+c.124+87C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88730106">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,37:79:99:953,0,1270:127	0|0:102,1:103:99:0,272,3489:127	1|0:43,32:75:99:831,0,1305:127
10	88730177	.	A	G	6805.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=325;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2279601;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2279601" target="_blank">rs2279601</a>;ExAC.Info.AC=63283;ExAC.Info.AN=124714;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=16906;ExAC.Info.AC_Hom=10548;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.282T>C;snpeff.Gene_Name=RP11-96C23.15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96C2315" target="_blank">RP11-96C2315</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609363;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.892T>C;snpeff.Gene_Name=ADIRF-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96C2315" target="_blank">RP11-96C2315</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609111;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125-56A>G;snpeff.Amino_Acid_length=76;snpeff.Gene_Name=ADIRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96C2315" target="_blank">RP11-96C2315</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372013;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372013;SAVANT_GENE=C10orf116;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf116" target="_blank">C10orf116</a>;SAVANT_INFO=+/2.7kb/3/0.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.125-56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf116+c.125-56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88730177">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,53:108:99:1504,0,1661:127	0|0:128,0:128:99:0,384,4687:127	1|0:49,40:89:99:1142,0,1516:127
10	88730312	.	T	C	8249.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=451;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4869" target="_blank">rs4869</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=68123;ExAC.Info.AN=126678;ExAC.Info.AF=0.538;ExAC.Info.AC_Het=29540;ExAC.Info.AC_Hom=18509;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.147A>G;snpeff.Gene_Name=RP11-96C23.15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96C2315" target="_blank">RP11-96C2315</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609363;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.757A>G;snpeff.Gene_Name=ADIRF-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96C2315" target="_blank">RP11-96C2315</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609111;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile68Ile/c.204T>C;snpeff.Amino_Acid_length=76;snpeff.Gene_Name=ADIRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-96C2315" target="_blank">RP11-96C2315</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372013;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372013;SAVANT_GENE=C10orf116;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf116" target="_blank">C10orf116</a>;SAVANT_INFO=+/2.7kb/3/0.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.204T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf116+c.204T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88730312">View</a>	GT:AD:DP:GQ:PL:TP	1|0:88,62:150:99:1622,0,2469:127	0|0:178,1:179:99:0,502,6129:127	1|0:69,53:122:99:1475,0,2010:127
10	88730374	.	C	T	6269.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7960;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7960" target="_blank">rs7960</a>;ExAC.Info.AC=47041;ExAC.Info.AN=124534;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=16673;ExAC.Info.AC_Hom=6201;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.695G>A;snpeff.Gene_Name=ADIRF-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADIRF-AS1" target="_blank">ADIRF-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609111;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.95-10G>A;snpeff.Gene_Name=RP11-96C23.15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADIRF-AS1" target="_blank">ADIRF-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609363;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=35;snpeff.Amino_Acid_Change=c.*35C>T;snpeff.Amino_Acid_length=76;snpeff.Gene_Name=ADIRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADIRF-AS1" target="_blank">ADIRF-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000372013;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000372013;SAVANT_GENE=C10orf116;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf116" target="_blank">C10orf116</a>;SAVANT_INFO=+/2.7kb/3/0.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*35C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf116+c.*35C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88730374">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,50:110:99:1288,0,1792:127	0|0:149,0:149:99:0,448,5374:127	1|0:51,44:95:99:1141,0,1565:127
10	88768253	.	A	G	8731.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=397;MQ=69.99;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2641563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2641563" target="_blank">rs2641563</a>;ExAC.Info.AC=92609;ExAC.Info.AN=126500;ExAC.Info.AF=0.732;ExAC.Info.AC_Het=24098;ExAC.Info.AC_Hom=34089;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2853A>G;snpeff.Gene_Name=AGAP11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGAP11" target="_blank">AGAP11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444431;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1448A>G;snpeff.Gene_Name=RP11-96C23.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGAP11" target="_blank">AGAP11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433214;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.331A>G;snpeff.Gene_Name=RP11-96C23.11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGAP11" target="_blank">AGAP11</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437689;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.983+790A>G;snpeff.Gene_Name=RP11-96C23.14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGAP11" target="_blank">AGAP11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444180;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGAP11" target="_blank">AGAP11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGAP11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88768253">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,62:128:99:1672,0,1614:127	0|0:140,0:140:99:0,421,4713:127	1|0:75,54:129:99:1428,0,2076:127
10	88768657	.	C	T	4980.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=267;MQ=69.96;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1745901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1745901" target="_blank">rs1745901</a>;ExAC.Info.AC=92259;ExAC.Info.AN=126704;ExAC.Info.AF=0.728;ExAC.Info.AC_Het=24576;ExAC.Info.AC_Hom=33840;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3257C>T;snpeff.Gene_Name=AGAP11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGAP11" target="_blank">AGAP11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444431;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1852C>T;snpeff.Gene_Name=RP11-96C23.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGAP11" target="_blank">AGAP11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433214;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.735C>T;snpeff.Gene_Name=RP11-96C23.11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGAP11" target="_blank">AGAP11</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000437689;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.983+1194C>T;snpeff.Gene_Name=RP11-96C23.14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGAP11" target="_blank">AGAP11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000444180;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGAP11" target="_blank">AGAP11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGAP11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88768657">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,45:89:99:1227,0,1353:127	0|0:104,0:104:99:0,313,3886:127	1|0:46,28:74:99:802,0,1524:127
10	88817578	.	GA	G	373.07	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=37;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperinsulinism-hyperammonemia_syndrome|_606762_(3);dbSNP139.ID=rs35186250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35186250" target="_blank">rs35186250</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1403-40delT;snpeff.Amino_Acid_length=558;snpeff.Gene_Name=GLUD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLUD1" target="_blank">GLUD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277865;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1403delA;snpeff.Amino_Acid_length=558;snpeff.Gene_Name=GLUD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLUD1" target="_blank">GLUD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277865;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1403delA;snpeff.Amino_Acid_length=558;snpeff.Gene_Name=GLUD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLUD1" target="_blank">GLUD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277865;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000277865;SAVANT_GENE=GLUD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLUD1" target="_blank">GLUD1</a>;SAVANT_INFO=-/44.4kb/13/3.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1403-40delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLUD1+c.1403-40delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88817578">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,6:13:99:101,0,129:41	0/1:6,7:13:77:77,0,77:41	0/1:8,3:11:42:42,0,134:41
10	88930249	.	A	T	14532.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=437;MQ=69.96;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11202365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11202365" target="_blank">rs11202365</a>;ExAC.Info.AC=43011;ExAC.Info.AN=126644;ExAC.Info.AF=0.340;ExAC.Info.AC_Het=27300;ExAC.Info.AC_Hom=7619;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Tgt;snpeff.Amino_Acid_Change=p.Ser550Cys/c.1648A>T;snpeff.Amino_Acid_length=904;snpeff.Gene_Name=FAM35A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM35A" target="_blank">FAM35A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298786;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298784;SAVANT_GENE=FAM35A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM35A" target="_blank">FAM35A</a>;SAVANT_INFO=+/96.3kb/9/3.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1648A>T_p.Ser550Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM35A+c.1648A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88930249">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,55:133:99:1470,0,2066:127	1|1:0,153:153:99:5086,460,0:127	0|0:151,0:151:99:0,454,5001:127
10	88939962	.	T	C	23222.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=288;MQ=65.85;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7081609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7081609" target="_blank">rs7081609</a>;ExAC.Info.AC=105659;ExAC.Info.AN=126694;ExAC.Info.AF=0.834;ExAC.Info.AC_Het=15144;ExAC.Info.AC_Hom=45043;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly767Gly/c.2301T>C;snpeff.Amino_Acid_length=904;snpeff.Gene_Name=FAM35A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM35A" target="_blank">FAM35A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298786;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298784;SAVANT_GENE=FAM35A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM35A" target="_blank">FAM35A</a>;SAVANT_INFO=+/96.3kb/9/3.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.2094T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM35A+c.2094T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88939962">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3455,286,0:127	1|1:0,105:105:99:3869,315,0:127	1|1:0,88:88:99:3103,264,0:127
10	88964698	.	G	T	979.02	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=151;MQ=55.89;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs149975014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149975014" target="_blank">rs149975014</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NUTM2A-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUTM2A-AS1" target="_blank">NUTM2A-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUTM2A-AS1" target="_blank">NUTM2A-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUTM2A-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88964698">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,7:38:64:64,0,871:7	1|0:47,19:66:99:382,0,1325:7	0|0:42,5:47:7:0,7,1253:7
10	88964766	.	T	C	188.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=198;MQ=61.13;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs200930735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200930735" target="_blank">rs200930735</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NUTM2A-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUTM2A-AS1" target="_blank">NUTM2A-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUTM2A-AS1" target="_blank">NUTM2A-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUTM2A-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88964766">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,3:59:72:0,72,1531:71	0|1:68,10:78:99:113,0,2087:71	0|0:59,2:61:99:0,114,1856:71
10	88975783	.	C	T	2500.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=356;MQ=68.42;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs28533204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28533204" target="_blank">rs28533204</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=NUTM2A-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUTM2A-AS1" target="_blank">NUTM2A-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUTM2A-AS1" target="_blank">NUTM2A-AS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUTM2A-AS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:88975783">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,360,4129:127	0|0:133,1:134:99:0,368,4842:127	0|1:55,47:102:99:1269,0,1750:127
10	89264476	.	A	T	3075.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Thyroid_carcinoma|_follicular|_188470_(3);dbSNP139.ID=rs2233164;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2233164" target="_blank">rs2233164</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2233164" target="_blank">rs2233164</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89264476">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2447:127	0|1:47,55:102:99:1556,0,1287:127	0|0:50,0:50:99:0,150,1630:127
10	89264593	.	C	G	2908.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Thyroid_carcinoma|_follicular|_188470_(3);dbSNP139.ID=rs2233166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2233166" target="_blank">rs2233166</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2233166" target="_blank">rs2233166</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89264593">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2610:127	0|1:61,53:114:99:1473,0,1967:127	0|0:94,0:94:99:0,282,3094:127
10	89267957	.	C	T	17631.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=560;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Thyroid_carcinoma|_follicular|_188470_(3);dbSNP139.ID=rs3843597;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3843597" target="_blank">rs3843597</a>;ExAC.Info.AC=47081;ExAC.Info.AN=83080;ExAC.Info.AF=0.567;ExAC.Info.AC_Het=4375;ExAC.Info.AC_Hom=5315;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.638-136C>T;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=MINPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINPP1" target="_blank">MINPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371996;SAVANT_GENE=MINPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MINPP1" target="_blank">MINPP1</a>;SAVANT_INFO=+/48.5kb/5/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.638-136C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MINPP1+c.638-136C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89267957">View</a>	GT:AD:DP:GQ:PL:TP	0|1:98,83:181:99:2090,0,2810:127	1|1:0,193:193:99:6658,580,0:127	0|0:186,0:186:99:0,558,6466:127
10	89419638	.	C	CGCT	2719.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=191;MQ=70.32;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes|_612847_(3);snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.122_123insAGC;snpeff.Gene_Name=RP11-57C13.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57C133" target="_blank">RP11-57C133</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000354527;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=100;snpeff.Amino_Acid_Change=c.-100_-101insGCT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-57C133" target="_blank">RP11-57C133</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000456849;SAVANT_GENE=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;SAVANT_INFO=+/88.0kb/13/3.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-77_-75dupTGC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPSS2+c.-77_-75dupTGC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89419638">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,181,1998:127	0|1:33,37:70:99:1383,0,915:127	0|0:61,0:61:99:0,184,2095:127
10	89420789	.	A	G	6842.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes|_612847_(3);dbSNP139.ID=rs2762528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2762528" target="_blank">rs2762528</a>;ExAC.Info.AC=7459;ExAC.Info.AN=14726;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=2838;ExAC.Info.AC_Hom=1769;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.27+1024A>G;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28A>G;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28A>G;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28A>G;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28A>G;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28A>G;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456849;SAVANT_GENE=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;SAVANT_INFO=+/88.0kb/13/3.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.27+1024A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPSS2+c.27+1024A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89420789">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,37:90:99:1097,0,1287:127	0|0:128,0:128:99:0,384,4199:127	1|0:37,45:82:99:1302,0,1054:127
10	89463460	.	G	C	20258.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes|_612847_(3);dbSNP139.ID=rs7923151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7923151" target="_blank">rs7923151</a>;ExAC.Info.AC=51306;ExAC.Info.AN=117074;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=27156;ExAC.Info.AC_Hom=11854;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.28-5493G>C;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>C;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>C;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>C;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>C;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>C;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456849;SAVANT_GENE=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;SAVANT_INFO=+/88.0kb/13/3.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.28-5493G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPSS2+c.28-5493G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89463460">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,89:90:99:3259,234,0:127	1|1:0,117:117:99:4215,352,0:127	1|0:50,35:85:99:1014,0,1473:127
10	89463480	.	G	A	13960.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes|_612847_(3);dbSNP139.ID=rs7923162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7923162" target="_blank">rs7923162</a>;ExAC.Info.AC=21990;ExAC.Info.AN=117106;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=17137;ExAC.Info.AC_Hom=2347;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.28-5473G>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456849;SAVANT_GENE=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;SAVANT_INFO=+/88.0kb/13/3.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.28-5473G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPSS2+c.28-5473G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89463480">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,64:115:99:1764,0,1534:127	1|1:0,134:134:99:4493,403,0:127	0|0:110,0:110:99:0,330,4050:127
10	89469083	.	CATAT	C	5634.98	PASS	InheritancePattern=Normal;AC=3;AF=0.600;AN=5;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=1/1;NA12891_GT=./0;OMIM_phenotypes.name=Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes|_612847_(3);dbSNP139.ID=rs72025574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72025574" target="_blank">rs72025574</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.145+14_145+17delATAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_149delATAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_149delATAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_149delATAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_149delATAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_149delATAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_149delATAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_149delATAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000456849;SAVANT_GENE=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;SAVANT_INFO=+/88.0kb/13/3.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.145+29_145+32delTATA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPSS2+c.145+29_145+32delTATA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89469083">View</a>	GT:AD:DP:GQ:PL	0/1:14,21:36:99:754,0,555	./0:45,0:54:99:174,315,2144	1/1:0,44:44:97:1791,98,0
10	89469083	.	CATAT	CAT	5634.98	PASS	InheritancePattern=unknown;AC=1;AF=0.333;AN=3;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./.;NA12891_GT=0/1;OMIM_phenotypes.name=Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes|_612847_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.145+16_145+17delAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_147delAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_147delAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_147delAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_147delAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_147delAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_147delAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.146_147delAT;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000456849;SAVANT_GENE=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;SAVANT_INFO=+/88.0kb/13/3.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.145+31_145+32delTA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPSS2+c.145+31_145+32delTA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89469083">View</a>	GT:AD:DP:GQ:PL	./0:14,1:36:99:754,672,1064	0/1:45,9:54:99:174,0,1349	./.:0,0:44:97:1791,1591,1499
10	89473069	.	T	TAA	1330.77	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=42;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes|_612847_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.381+3_381+4insAA;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382_383insAA;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382_383insAA;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382_383insAA;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382_383insAA;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382_383insAA;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382_383insAA;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Adenylyl-sulfate_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382_383insAA;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382_383insAA;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000456849;SAVANT_GENE=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;SAVANT_INFO=+/88.0kb/13/3.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.381+23_381+24dupAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPSS2+c.381+23_381+24dupAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89473069">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,6:11:60:98,0,60:17	0|0:7,2:9:18:0,18,102:17	1|1:2,20:22:30:361,30,0:17
10	89475617	.	G	A	1034.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes|_612847_(3);dbSNP139.ID=rs2302405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2302405" target="_blank">rs2302405</a>;ExAC.Info.AC=14120;ExAC.Info.AN=126662;ExAC.Info.AF=0.111;ExAC.Info.AC_Het=12230;ExAC.Info.AC_Hom=916;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.865+17G>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456849;SAVANT_GENE=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;SAVANT_INFO=+/88.0kb/13/3.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.865+17G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPSS2+c.865+17G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89475617">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1748:127	0|0:50,0:50:99:0,149,1643:127	0|1:25,19:44:99:536,0,747:127
10	89505873	.	A	T	9487.54	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes|_612847_(3);dbSNP139.ID=rs1058801;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1058801" target="_blank">rs1058801</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=146;snpeff.Amino_Acid_Change=c.*146A>T;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456849;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456849;SAVANT_GENE=PAPSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAPSS2" target="_blank">PAPSS2</a>;SAVANT_INFO=+/88.0kb/13/3.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*146A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAPSS2+c.*146A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89505873">View</a>	GT:AD:DP:GQ:PL:TP	1|1:8,99:107:62:2775,62,0:62	1|1:3,75:78:99:2324,132,0:62	1|0:27,33:60:99:928,0,736:62
10	89653686	.	A	G	2648.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=80;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cowden_syndrome_4|_615107_(3)|Cowden_syndrome_1|_158350_(3)|_Lhermitte-Duclos_syndrome|_158350_(3)|_Bannayan-Riley-Ruvalcaba_syndrome|_153480_(3)|_{Meningioma}|_607174_(3)|_{Glioma_susceptibility_2}|_613028_(3)|_Macrocephaly/autism_syndrome|_605309_(3)|_PTEN_hamartoma_tumor_syndrome_(3)|_VATER_association_with_macrocephaly_and_ventriculomegaly|_276950_(3)|_{Prostate_cancer|_somatic}|_176807_(3)|_Thyroid_carcinoma|_follicular|_somatic|_188470_(3)|_Malignant_melanoma|_somatic|_155600_(3)|_Endometrial_carcinoma|_somatic|_608089_(3)|_Squamous_cell_carcinoma|_head_and_neck|_somatic|_275355_(3);dbSNP139.ID=rs1903858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1903858" target="_blank">rs1903858</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.80-96A>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80A>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80A>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80A>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80A>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80A>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80A>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80A>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Phosphatase_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80A>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371953;SAVANT_GENE=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;SAVANT_INFO=+/108.8kb/9/9.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.80-96A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTEN+c.80-96A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89653686">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,11:26:99:371,0,472:65	1|1:0,22:22:66:865,66,0:65	0|0:32,0:32:96:0,96,1225:65
10	89720633	.	CT	C	268.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=80;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cowden_syndrome_4|_615107_(3)|Cowden_syndrome_1|_158350_(3)|_Lhermitte-Duclos_syndrome|_158350_(3)|_Bannayan-Riley-Ruvalcaba_syndrome|_153480_(3)|_{Meningioma}|_607174_(3)|_{Glioma_susceptibility_2}|_613028_(3)|_Macrocephaly/autism_syndrome|_605309_(3)|_PTEN_hamartoma_tumor_syndrome_(3)|_VATER_association_with_macrocephaly_and_ventriculomegaly|_276950_(3)|_{Prostate_cancer|_somatic}|_176807_(3)|_Thyroid_carcinoma|_follicular|_somatic|_188470_(3)|_Malignant_melanoma|_somatic|_155600_(3)|_Endometrial_carcinoma|_somatic|_608089_(3)|_Squamous_cell_carcinoma|_head_and_neck|_somatic|_275355_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.802-17delT;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802delT;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802delT;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802delT;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802delT;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371953;SAVANT_GENE=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;SAVANT_INFO=+/108.8kb/9/9.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.802-3delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTEN+c.802-3delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89720633">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,1:19:30:0,30,393:26	0|1:28,5:33:30:30,0,594:26	0|1:20,8:28:99:108,0,382:26
10	89720907	.	T	G	25847.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=783;MQ=67.91;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cowden_syndrome_4|_615107_(3)|Cowden_syndrome_1|_158350_(3)|_Lhermitte-Duclos_syndrome|_158350_(3)|_Bannayan-Riley-Ruvalcaba_syndrome|_153480_(3)|_{Meningioma}|_607174_(3)|_{Glioma_susceptibility_2}|_613028_(3)|_Macrocephaly/autism_syndrome|_605309_(3)|_PTEN_hamartoma_tumor_syndrome_(3)|_VATER_association_with_macrocephaly_and_ventriculomegaly|_276950_(3)|_{Prostate_cancer|_somatic}|_176807_(3)|_Thyroid_carcinoma|_follicular|_somatic|_188470_(3)|_Malignant_melanoma|_somatic|_155600_(3)|_Endometrial_carcinoma|_somatic|_608089_(3)|_Squamous_cell_carcinoma|_head_and_neck|_somatic|_275355_(3);dbSNP139.ID=rs555895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=555895" target="_blank">rs555895</a>;ExAC.Info.AC=46651;ExAC.Info.AN=126496;ExAC.Info.AF=0.369;ExAC.Info.AC_Het=28338;ExAC.Info.AC_Hom=8753;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000078603;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1026+32T>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1027T>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1027T>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1027T>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1027T>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1027T>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_tensin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1027T>G;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371953;SAVANT_GENE=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;SAVANT_INFO=+/108.8kb/9/9.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1026+32T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTEN+c.1026+32T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89720907">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000078603" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:106,103:209:99:2854,0,2834:127	1|1:2,289:291:99:9671,796,0:127	0|0:283,0:283:99:0,850,9373:127
10	89725293	.	CT	C	101.4	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=186;MQ=68.49;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cowden_syndrome_4|_615107_(3)|Cowden_syndrome_1|_158350_(3)|_Lhermitte-Duclos_syndrome|_158350_(3)|_Bannayan-Riley-Ruvalcaba_syndrome|_153480_(3)|_{Meningioma}|_607174_(3)|_{Glioma_susceptibility_2}|_613028_(3)|_Macrocephaly/autism_syndrome|_605309_(3)|_PTEN_hamartoma_tumor_syndrome_(3)|_VATER_association_with_macrocephaly_and_ventriculomegaly|_276950_(3)|_{Prostate_cancer|_somatic}|_176807_(3)|_Thyroid_carcinoma|_follicular|_somatic|_188470_(3)|_Malignant_melanoma|_somatic|_155600_(3)|_Endometrial_carcinoma|_somatic|_608089_(3)|_Squamous_cell_carcinoma|_head_and_neck|_somatic|_275355_(3);snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=65;snpeff.Amino_Acid_Change=c.*65delT;snpeff.Amino_Acid_length=403;snpeff.Gene_Name=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371953;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371953;SAVANT_GENE=PTEN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTEN" target="_blank">PTEN</a>;SAVANT_INFO=+/108.8kb/9/9.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*75delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTEN+c.*75delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:89725293">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,2:65:99:0,138,1715:4	0|0:65,7:72:18:0,18,1576:4	0|1:43,6:49:3:3,0,1056:4
10	90034883	.	C	T	2926.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72818071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72818071" target="_blank">rs72818071</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RNLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNLS" target="_blank">RNLS</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNLS" target="_blank">RNLS</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNLS+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90034883">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,336,3749:127	0|0:116,0:116:99:0,349,3965:127	0|1:62,50:112:99:1482,0,1766:127
10	90034899	.	C	T	8058.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs45585838;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45585838" target="_blank">rs45585838</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RNLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNLS" target="_blank">RNLS</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNLS" target="_blank">RNLS</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNLS+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90034899">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,39:87:99:1190,0,1478:127	0/1:49,37:86:99:1104,0,1512:127	0/1:44,36:80:99:1129,0,1409:127
10	90305177	.	C	T	5461.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11202769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11202769" target="_blank">rs11202769</a>;ExAC.Info.AC=6323;ExAC.Info.AN=17066;ExAC.Info.AF=0.371;ExAC.Info.AC_Het=2855;ExAC.Info.AC_Hom=1216;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.526+27483G>A;snpeff.Amino_Acid_length=342;snpeff.Gene_Name=RNLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNLS" target="_blank">RNLS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331772;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.527C>T;snpeff.Amino_Acid_length=342;snpeff.Gene_Name=RNLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNLS" target="_blank">RNLS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331772;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.527C>T;snpeff.Amino_Acid_length=342;snpeff.Gene_Name=RNLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNLS" target="_blank">RNLS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331772;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331772;SAVANT_GENE=RNLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNLS" target="_blank">RNLS</a>;SAVANT_INFO=-/298.3kb/7/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.526+27483G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNLS+c.526+27483G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90305177">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,33:65:99:956,0,871:127	0|0:82,0:82:99:0,246,2590:127	1|1:0,57:57:99:1849,171,0:127
10	90342837	.	C	G	29839.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=431;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2296545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296545" target="_blank">rs2296545</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Essential_hypertension_in_Han_Chinese|_association_with;hgmd_2014.2.OMIM_ID=609360;hgmd_2014.2.PubMed=17216203;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17216203" target="_blank">17216203</a>;ExAC.Info.AC=58293;ExAC.Info.AN=126702;ExAC.Info.AF=0.460;ExAC.Info.AC_Het=31097;ExAC.Info.AC_Hom=13515;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.111C>G;snpeff.Amino_Acid_length=342;snpeff.Gene_Name=RNLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNLS" target="_blank">RNLS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331772;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu37Asp/c.111G>C;snpeff.Amino_Acid_length=342;snpeff.Gene_Name=RNLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNLS" target="_blank">RNLS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331772;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331772;SAVANT_GENE=RNLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNLS" target="_blank">RNLS</a>;SAVANT_INFO=-/298.3kb/7/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.111G>C_p.Glu37Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNLS+c.111G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90342837">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3694,339,0:127	1|0:97,107:204:99:2998,0,2682:127	1|1:0,114:114:99:3979,343,0:127
10	90354589	.	A	G	1664.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11202781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11202781" target="_blank">rs11202781</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.439+56A>G;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=LIPJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPJ" target="_blank">LIPJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371939;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371939;SAVANT_GENE=LIPJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPJ" target="_blank">LIPJ</a>;SAVANT_INFO=+/20.2kb/11/1.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.439+56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPJ+c.439+56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90354589">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1416:119	0|1:21,27:48:99:851,0,627:119	0|0:51,0:51:99:0,153,1949:119
10	90356598	.	A	G	13560.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1409136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1409136" target="_blank">rs1409136</a>;ExAC.Info.AC=101208;ExAC.Info.AN=126648;ExAC.Info.AF=0.799;ExAC.Info.AC_Het=19112;ExAC.Info.AC_Hom=40898;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile210Val/c.628A>G;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=LIPJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPJ" target="_blank">LIPJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371939;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371939;SAVANT_GENE=LIPJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPJ" target="_blank">LIPJ</a>;SAVANT_INFO=+/20.2kb/11/1.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.628A>G_p.Ile210Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPJ+c.628A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90356598">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1809,165,0:127	1|1:0,75:75:99:2319,224,0:127	1|1:0,55:55:99:1839,165,0:127
10	90362307	.	CT	C	1238.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=60;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11343654;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11343654" target="_blank">rs11343654</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.724-25delT;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=LIPJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPJ" target="_blank">LIPJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371939;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371939;SAVANT_GENE=LIPJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPJ" target="_blank">LIPJ</a>;SAVANT_INFO=+/20.2kb/11/1.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.724-10delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPJ+c.724-10delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90362307">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,12:21:99:209,0,147:67	0/1:6,17:23:68:279,0,68:67	0/1:7,9:16:99:172,0,119:67
10	90365290	.	A	G	16000.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2274312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274312" target="_blank">rs2274312</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.796-100A>G;snpeff.Amino_Acid_length=366;snpeff.Gene_Name=LIPJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPJ" target="_blank">LIPJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371939;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371939;SAVANT_GENE=LIPJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPJ" target="_blank">LIPJ</a>;SAVANT_INFO=+/20.2kb/11/1.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.796-100A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPJ+c.796-100A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90365290">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2761,249,0:127	1|0:59,41:100:99:1076,0,1611:127	1|1:0,84:84:99:2821,252,0:127
10	90425327	.	T	C	16921.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=837;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs814624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=814624" target="_blank">rs814624</a>;ExAC.Info.AC=4453;ExAC.Info.AN=17168;ExAC.Info.AF=0.259;ExAC.Info.AC_Het=2835;ExAC.Info.AC_Hom=654;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19+11T>C;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394375;SAVANT_GENE=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;SAVANT_INFO=+/14.4kb/11/1.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.19+11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPF+c.19+11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90425327">View</a>	GT:AD:DP:GQ:PL:TP	0|0:260,0:260:99:0,781,8637:127	0|1:153,171:324:99:4730,0,4269:127	0|1:121,132:253:99:3745,0,3151:127
10	90427173	.	G	C	4540.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=544;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12414074;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12414074" target="_blank">rs12414074</a>;ExAC.Info.AC=4812;ExAC.Info.AN=126684;ExAC.Info.AF=0.038;ExAC.Info.AC_Het=4525;ExAC.Info.AC_Hom=138;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.135+14G>C;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.136G>C;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.136G>C;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394375;SAVANT_GENE=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;SAVANT_INFO=+/14.4kb/11/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.135+14G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPF+c.135+14G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90427173">View</a>	GT:AD:DP:GQ:PL:TP	0|0:166,0:166:99:0,499,5983:127	0|0:216,0:216:99:0,649,7948:127	0|1:80,82:162:99:2289,0,2458:127
10	90429652	.	A	G	5060.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=670;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs814628;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=814628" target="_blank">rs814628</a>;ExAC.Info.AC=22282;ExAC.Info.AN=126702;ExAC.Info.AF=0.176;ExAC.Info.AC_Het=17815;ExAC.Info.AC_Hom=2229;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.511A>G;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr171Ala/c.511A>G;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394375;SAVANT_GENE=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;SAVANT_INFO=+/14.4kb/11/1.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.511A>G_p.Thr171Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPF+c.511A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90429652">View</a>	GT:AD:DP:GQ:PL:TP	0|0:215,0:215:99:0,646,6861:127	0|1:141,94:235:99:2549,0,3874:127	0|0:220,0:220:99:0,661,7261:127
10	90433345	.	T	A	4137.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6586145;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6586145" target="_blank">rs6586145</a>;ExAC.Info.AC=12128;ExAC.Info.AN=126676;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=10491;ExAC.Info.AC_Hom=814;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700T>A;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700T>A;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.700T>A;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttt/Att;snpeff.Amino_Acid_Change=p.Phe234Ile/c.700T>A;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394375;SAVANT_GENE=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;SAVANT_INFO=+/14.4kb/11/1.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.700T>A_p.Phe234Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPF+c.700T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90433345">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,18:35:99:549,0,523:127	0|0:60,0:60:99:0,180,2176:127	1|0:29,33:62:99:944,0,810:127
10	90435507	.	C	T	2166.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11202805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11202805" target="_blank">rs11202805</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.918+93C>T;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919C>T;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394375;SAVANT_GENE=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;SAVANT_INFO=+/14.4kb/11/1.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.918+93C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPF+c.918+93C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90435507">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,17:41:99:433,0,720:127	0|0:54,0:54:99:0,162,1880:127	1|0:11,16:27:99:439,0,271:127
10	90438207	.	A	G	11852.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=661;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1228187;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1228187" target="_blank">rs1228187</a>;ExAC.Info.AC=28251;ExAC.Info.AN=126704;ExAC.Info.AF=0.223;ExAC.Info.AC_Het=21611;ExAC.Info.AC_Hom=3317;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.996A>G;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.996A>G;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln332Gln/c.996A>G;snpeff.Amino_Acid_length=408;snpeff.Gene_Name=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394375;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394375;SAVANT_GENE=LIPF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPF" target="_blank">LIPF</a>;SAVANT_INFO=+/14.4kb/11/1.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.996A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPF+c.996A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90438207">View</a>	GT:AD:DP:GQ:PL:TP	0|0:212,2:214:99:0,593,6666:127	0|1:136,113:249:99:3076,0,3729:127	0|1:100,98:198:99:2870,0,2689:127
10	90484243	.	C	T	10713.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs376036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=376036" target="_blank">rs376036</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=376036" target="_blank">rs376036</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90484243">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,31:61:99:925,0,942:127	0|1:33,48:81:99:1496,0,974:127	1|1:0,75:75:99:2668,226,0:127
10	90490921	.	G	A	3767.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs412227;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=412227" target="_blank">rs412227</a>;ExAC.Info.AC=27610;ExAC.Info.AN=124912;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=17404;ExAC.Info.AC_Hom=2598;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro135Pro/c.405G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=LIPK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPK" target="_blank">LIPK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404190;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404190;SAVANT_GENE=LIPK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPK" target="_blank">LIPK</a>;SAVANT_INFO=+/28.2kb/9/1.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.405G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPK+c.405G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90490921">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,322,3662:127	0|1:54,62:116:99:1902,0,1467:127	0|0:114,0:114:99:0,343,3950:127
10	90503075	.	T	C	2422.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs390152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=390152" target="_blank">rs390152</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=27018;ExAC.Info.AN=123032;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=14999;ExAC.Info.AC_Hom=2457;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His319His/c.957T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=LIPK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPK" target="_blank">LIPK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404190;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404190;SAVANT_GENE=LIPK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPK" target="_blank">LIPK</a>;SAVANT_INFO=+/28.2kb/9/1.2kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.957T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPK+c.957T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90503075">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,213,2311:127	0|1:30,39:69:99:1230,0,807:127	0|0:87,0:87:99:0,261,2826:127
10	90512306	.	G	C	1326.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1214464;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1214464" target="_blank">rs1214464</a>;ExAC.Info.AC=18558;ExAC.Info.AN=119966;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=7768;ExAC.Info.AC_Hom=1049;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atC;snpeff.Amino_Acid_Change=p.Met331Ile/c.993G>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=LIPK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPK" target="_blank">LIPK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404190;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404190;SAVANT_GENE=LIPK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPK" target="_blank">LIPK</a>;SAVANT_INFO=+/28.2kb/9/1.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.993G>C_p.Met331Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPK+c.993G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90512306">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,186,2214:127	0|1:30,26:56:99:682,0,835:127	0|0:56,0:56:99:0,168,1906:127
10	90524237	.	T	C	9794.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1054;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ichthyosis|_congenital|_autosomal_recessive_8|_613943_(3);dbSNP139.ID=rs430517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=430517" target="_blank">rs430517</a>;ExAC.Info.AC=30515;ExAC.Info.AN=124844;ExAC.Info.AF=0.244;ExAC.Info.AC_Het=22664;ExAC.Info.AC_Hom=3890;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala99Ala/c.297T>C;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404459;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404459;SAVANT_GENE=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;SAVANT_INFO=+/16.8kb/9/1.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.297T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPN+c.297T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90524237">View</a>	GT:AD:DP:GQ:PL:TP	0|0:360,1:361:99:0,1045,12007:127	0|1:181,163:344:99:4992,0,5450:127	0|0:349,0:349:99:0,1048,12364:127
10	90524412	.	A	T	3098.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=435;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ichthyosis|_congenital|_autosomal_recessive_8|_613943_(3);dbSNP139.ID=rs398126;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=398126" target="_blank">rs398126</a>;ExAC.Info.AC=26458;ExAC.Info.AN=122528;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=12446;ExAC.Info.AC_Hom=1644;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.425+47A>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404459;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404459;SAVANT_GENE=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;SAVANT_INFO=+/16.8kb/9/1.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.425+47A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPN+c.425+47A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90524412">View</a>	GT:AD:DP:GQ:PL:TP	0|0:148,0:148:99:0,445,4989:127	0|1:67,68:135:99:1573,0,1963:127	0|0:152,0:152:99:0,457,5371:127
10	90528499	.	C	T	11241.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=632;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis|_congenital|_autosomal_recessive_8|_613943_(3);dbSNP139.ID=rs450011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=450011" target="_blank">rs450011</a>;ExAC.Info.AC=23485;ExAC.Info.AN=124366;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=17073;ExAC.Info.AC_Hom=2160;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.536-50C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404459;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404459;SAVANT_GENE=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;SAVANT_INFO=+/16.8kb/9/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.536-50C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPN+c.536-50C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90528499">View</a>	GT:AD:DP:GQ:PL:TP	1|0:98,88:186:99:2556,0,2935:127	0|0:238,0:238:99:0,714,8827:127	1|0:114,94:208:99:2683,0,3559:127
10	90530660	.	C	A	6460.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=751;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis|_congenital|_autosomal_recessive_8|_613943_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10788611;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10788611" target="_blank">rs10788611</a>;ExAC.Info.AC=32766;ExAC.Info.AN=108754;ExAC.Info.AF=0.301;ExAC.Info.AC_Het=7657;ExAC.Info.AC_Hom=2633;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aAc;snpeff.Amino_Acid_Change=p.Thr244Asn/c.731C>A;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404459;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404459;SAVANT_GENE=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;SAVANT_INFO=+/16.8kb/9/1.2kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.731C>A_p.Thr244Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPN+c.731C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90530660">View</a>	GT:AD:DP:GQ:PL:TP	0|0:254,0:254:99:0,762,8433:127	0|0:269,0:269:99:0,808,9175:127	0|1:115,113:228:99:3249,0,3373:127
10	90534787	.	T	G	5980.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis|_congenital|_autosomal_recessive_8|_613943_(3);dbSNP139.ID=rs303472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=303472" target="_blank">rs303472</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.892-62T>G;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404459;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404459;SAVANT_GENE=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;SAVANT_INFO=+/16.8kb/9/1.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.892-62T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPN+c.892-62T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90534787">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,42:80:99:1432,0,1128:127	0|0:105,0:105:99:0,316,3730:127	1|0:45,46:91:99:1529,0,1404:127
10	90537732	.	C	T	5246.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ichthyosis|_congenital|_autosomal_recessive_8|_613943_(3);dbSNP139.ID=rs303484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=303484" target="_blank">rs303484</a>;ExAC.Info.AC=20653;ExAC.Info.AN=124918;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=16247;ExAC.Info.AC_Hom=1909;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.964-34C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404459;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404459;SAVANT_GENE=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;SAVANT_INFO=+/16.8kb/9/1.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.964-34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPN+c.964-34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90537732">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,40:86:99:1125,0,1367:127	0|0:94,0:94:99:0,283,3434:127	1|0:38,37:75:99:1063,0,1061:127
10	90537942	.	C	T	9990.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1076;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ichthyosis|_congenital|_autosomal_recessive_8|_613943_(3);dbSNP139.ID=rs11202851;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11202851" target="_blank">rs11202851</a>;ExAC.Info.AC=11273;ExAC.Info.AN=124786;ExAC.Info.AF=0.090;ExAC.Info.AC_Het=9415;ExAC.Info.AC_Hom=873;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu380Leu/c.1140C>T;snpeff.Amino_Acid_length=398;snpeff.Gene_Name=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404459;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404459;SAVANT_GENE=LIPN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPN" target="_blank">LIPN</a>;SAVANT_INFO=+/16.8kb/9/1.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1140C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPN+c.1140C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90537942">View</a>	GT:AD:DP:GQ:PL:TP	0|0:340,0:340:99:0,1021,11317:127	0|1:202,182:384:99:5014,0,5651:127	0|0:352,0:352:99:0,1057,11271:127
10	90538020	.	A	G	11316.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=523;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs303485;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=303485" target="_blank">rs303485</a>;ExAC.Info.AC=17906;ExAC.Info.AN=120796;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=8538;ExAC.Info.AC_Hom=1011;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=303485" target="_blank">rs303485</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90538020">View</a>	GT:AD:DP:GQ:PL:TP	1|0:96,87:183:99:2616,0,2823:127	0|0:179,0:179:99:0,538,6578:127	1|0:88,73:161:99:2414,0,2653:127
10	90565659	.	CA	C	973.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs139608926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139608926" target="_blank">rs139608926</a>;ExAC.Info.AC=5943;ExAC.Info.AN=17528;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=3126;ExAC.Info.AC_Hom=1105;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.148-2395delA;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=LIPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPM" target="_blank">LIPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404743;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000404743;SAVANT_GENE=LIPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPM" target="_blank">LIPM</a>;SAVANT_INFO=+/17.6kb/9/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.148-2392delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPM+c.148-2392delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90565659">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1065:92	0|0:42,0:42:99:0,126,1402:92	0|1:6,17:23:99:510,0,132:92
10	90565671	.	A	G	1350.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs303534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=303534" target="_blank">rs303534</a>;ExAC.Info.AC=2435;ExAC.Info.AN=17794;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=1725;ExAC.Info.AC_Hom=184;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.148-2384A>G;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=LIPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPM" target="_blank">LIPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404743;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404743;SAVANT_GENE=LIPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPM" target="_blank">LIPM</a>;SAVANT_INFO=+/17.6kb/9/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.148-2384A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPM+c.148-2384A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90565671">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,12:31:99:354,0,595:127	0|0:46,0:46:99:0,138,1459:127	1|0:17,5:22:99:134,0,496:127
10	90565864	.	T	A	1853.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs303533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=303533" target="_blank">rs303533</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.148-2191T>A;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=LIPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPM" target="_blank">LIPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404743;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404743;SAVANT_GENE=LIPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPM" target="_blank">LIPM</a>;SAVANT_INFO=+/17.6kb/9/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.148-2191T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPM+c.148-2191T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90565864">View</a>	GT:AD:DP:GQ:PL:TP	1|0:6,5:11:99:157,0,172:92	0|0:31,0:31:93:0,93,1022:92	1|0:17,13:30:99:399,0,490:92
10	90568182	.	A	G	1818.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3899739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3899739" target="_blank">rs3899739</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.265+10A>G;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=LIPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPM" target="_blank">LIPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404743;SAVANT_GENE=LIPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPM" target="_blank">LIPM</a>;SAVANT_INFO=+/17.6kb/9/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.265+10A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPM+c.265+10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90568182">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1921:127	0|0:64,0:64:99:0,192,2209:127	0|1:24,28:52:99:928,0,697:127
10	90580144	.	C	T	1894.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10788615;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10788615" target="_blank">rs10788615</a>;ExAC.Info.AC=9333;ExAC.Info.AN=28484;ExAC.Info.AF=0.328;ExAC.Info.AC_Het=5696;ExAC.Info.AC_Hom=1717;snpeff.Effect=sequence_feature[active_site:Charge_relay_system];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158C>T;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=LIPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPM" target="_blank">LIPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404743;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His386His/c.1158C>T;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=LIPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPM" target="_blank">LIPM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404743;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000404743;SAVANT_GENE=LIPM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPM" target="_blank">LIPM</a>;SAVANT_INFO=+/17.6kb/9/1.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1158C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPM+c.1158C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90580144">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2009:127	0|0:84,0:84:99:0,252,2792:127	0|1:42,35:77:99:966,0,1240:127
10	90585819	.	G	A	3166.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7893917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7893917" target="_blank">rs7893917</a>;ExAC.Info.AC=49009;ExAC.Info.AN=126690;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=29159;ExAC.Info.AC_Hom=9894;snpeff.Effect=sequence_feature[repeat:ANK_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>A;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=ANKRD22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD22" target="_blank">ANKRD22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371930;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>A;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=ANKRD22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD22" target="_blank">ANKRD22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371930;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly125Gly/c.375C>T;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=ANKRD22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD22" target="_blank">ANKRD22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371930;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371930;SAVANT_GENE=ANKRD22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD22" target="_blank">ANKRD22</a>;SAVANT_INFO=-/29.7kb/6/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.375C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD22+c.375C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90585819">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,384,4100:127	0|0:143,0:143:99:0,429,4624:127	0|1:56,59:115:99:1602,0,1437:127
10	90591731	.	A	C	447.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=3123;ExAC.Info.AN=126702;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=2902;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gGg;snpeff.Amino_Acid_Change=p.Val25Gly/c.74T>G;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=ANKRD22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD22" target="_blank">ANKRD22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371930;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371930;SAVANT_GENE=ANKRD22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD22" target="_blank">ANKRD22</a>;SAVANT_INFO=-/29.7kb/6/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.74T>G_p.Val25Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD22+c.74T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90591731">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,11:30:80:80,0,430:42	0/1:37,21:58:99:144,0,1017:42	0/1:36,14:50:43:43,0,905:42
10	90673024	.	G	A	13661.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12254856;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12254856" target="_blank">rs12254856</a>;ExAC.Info.AC=13963;ExAC.Info.AN=126696;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=12081;ExAC.Info.AC_Hom=938;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser196Asn/c.587G>A;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=STAMBPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STAMBPL1" target="_blank">STAMBPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371927;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371926;SAVANT_GENE=STAMBPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STAMBPL1" target="_blank">STAMBPL1</a>;SAVANT_INFO=+/43.8kb/11/2.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.587G>A_p.Ser196Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STAMBPL1+c.587G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90673024">View</a>	GT:AD:DP:GQ:PL:TP	0|1:96,78:174:99:2209,0,2989:127	1|0:97,110:207:99:3335,0,2838:127	0|0:172,0:172:99:0,520,7016:127
10	90673047	.	G	A	5088.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=605;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34270879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34270879" target="_blank">rs34270879</a>;ExAC.Info.AC=3781;ExAC.Info.AN=126700;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3614;ExAC.Info.AC_Hom=83;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu204Lys/c.610G>A;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=STAMBPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STAMBPL1" target="_blank">STAMBPL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371927;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371926;SAVANT_GENE=STAMBPL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STAMBPL1" target="_blank">STAMBPL1</a>;SAVANT_INFO=+/43.8kb/11/2.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.610G>A_p.Glu204Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STAMBPL1+c.610G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90673047">View</a>	GT:AD:DP:GQ:PL:TP	0|0:201,0:201:99:0,607,7877:127	0|0:209,0:209:99:0,638,8439:127	0|1:105,90:195:99:2563,0,3400:127
10	90767395	.	G	C	57126.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=1008;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3);dbSNP139.ID=rs2031611;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2031611" target="_blank">rs2031611</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.197-62G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.197G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.197G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.197G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TNFR-Cys_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.197G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.197G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.197G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.197G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.197G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.197G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355740;SAVANT_GENE=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;SAVANT_INFO=+/25.1kb/9/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.197-62G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAS+c.197-62G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90767395">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,315:315:99:10800,946,0:127	1|0:204,160:364:99:4587,0,5854:127	1|1:0,329:329:99:10838,988,0:127
10	90771829	.	T	C	17223.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|Aortic_aneurysm|_familial_thoracic_6|_611788_(3)|_Multisystemic_smooth_muscle_dysfunction_syndrome|_613834_(3)|_Moyamoya_disease_5|_614042_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3)|{Autoimmune_lymphoproliferative_syndrome}|_601859_(3)|_Squamous_cell_carcinoma|_burn_scar-related|_somatic_(3)|_Autoimmune_lymphoproliferative_syndrome|_type_IA|_601859_(3);dbSNP139.ID=rs2234978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234978" target="_blank">rs2234978</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Thyroid_carcinoma|_association_with;hgmd_2014.2.OMIM_ID=134637;hgmd_2014.2.PubMed=15350189;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15350189" target="_blank">15350189</a>;ExAC.Info.AC=95844;ExAC.Info.AN=126702;ExAC.Info.AF=0.756;ExAC.Info.AC_Het=22232;ExAC.Info.AC_Hom=36736;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HIPK3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642T>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HIPK3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642T>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_HIPK3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642T>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642T>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642T>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642T>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr214Thr/c.642T>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355740;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355740;SAVANT_GENE=FAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" target="_blank">FAS</a>;SAVANT_INFO=+/25.1kb/9/2.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.642T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAS+c.642T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90771829">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3255,291,0:127	1|0:57,57:114:99:1674,0,1505:127	1|1:0,82:82:99:2783,246,0:127
10	90823139	.	G	A	1015.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=50;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72810954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72810954" target="_blank">rs72810954</a>;ExAC.Info.AC=4;ExAC.Info.AN=2174;ExAC.Info.AF=1.840e-03;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.30C>T;snpeff.Gene_Name=MIR4679-2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4679-2" target="_blank">MIR4679-2</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000578358;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4679-2" target="_blank">MIR4679-2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIR4679-2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90823139">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,9:17:99:232,0,249:63	0|0:21,0:21:63:0,63,770:63	1|0:5,7:12:99:213,0,171:63
10	90966393	.	G	A	13050.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs17382301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17382301" target="_blank">rs17382301</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=14705;ExAC.Info.AN=126702;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=12681;ExAC.Info.AC_Hom=1007;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn219Asn/c.657C>T;snpeff.Amino_Acid_length=272;snpeff.Gene_Name=CH25H;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CH25H" target="_blank">CH25H</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371852;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371852;SAVANT_GENE=CH25H;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CH25H" target="_blank">CH25H</a>;SAVANT_INFO=-/1.4kb/1/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.657C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CH25H+c.657C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90966393">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,58:121:99:1687,0,2036:127	0/1:58,71:129:99:2190,0,1838:127	0/1:57,55:112:99:1585,0,1848:127
10	90975649	.	G	A	8540.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Wolman_disease|_278000_(3)|_Cholesteryl_ester_storage_disease|_278000_(3);dbSNP139.ID=rs3802656;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802656" target="_blank">rs3802656</a>;ExAC.Info.AC=27791;ExAC.Info.AN=126664;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=20507;ExAC.Info.AC_Hom=3553;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.966+46C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=LIPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336233;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371829;SAVANT_GENE=LIPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;SAVANT_INFO=-/129.1kb/11/3.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.966+46C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPA+c.966+46C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90975649">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,41:79:99:1129,0,1216:127	0/1:43,44:87:99:1224,0,1378:127	0/1:46,39:85:99:1118,0,1391:127
10	90985067	.	CGCCCTCTCGCGGA	C	11070.29	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=213;MQ=70.04;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Wolman_disease|_278000_(3)|_Cholesteryl_ester_storage_disease|_278000_(3);dbSNP139.ID=rs72163486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72163486" target="_blank">rs72163486</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.539-95_539-83delTCCGCGAGAGGGC;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=LIPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336233;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371829;SAVANT_GENE=LIPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;SAVANT_INFO=-/129.1kb/11/3.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.539-95_539-83del13;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPA+c.539-95_539-83del13+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:90985067">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,47:73:99:1791,0,1022:127	0/1:35,42:77:99:1631,0,1449:127	0/1:30,33:63:99:1279,0,1293:127
10	91007360	.	T	G	13295.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=664;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Wolman_disease|_278000_(3)|_Cholesteryl_ester_storage_disease|_278000_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1051338;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1051338" target="_blank">rs1051338</a>;ExAC.Info.AC=40047;ExAC.Info.AN=126704;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=26431;ExAC.Info.AC_Hom=6782;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Ccc;snpeff.Amino_Acid_Change=p.Thr16Pro/c.46A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=LIPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336233;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371829;SAVANT_GENE=LIPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;SAVANT_INFO=-/129.1kb/11/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.46A>C_p.Thr16Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPA+c.46A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91007360">View</a>	GT:AD:DP:GQ:PL:TP	1|0:108,108:216:99:2886,0,2627:127	0|0:246,0:246:99:0,739,8063:127	1|0:111,91:202:99:2447,0,2858:127
10	91066769	.	C	A	9186.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=488;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1727" target="_blank">rs1727</a>;ExAC.Info.AC=100275;ExAC.Info.AN=125186;ExAC.Info.AF=0.801;ExAC.Info.AC_Het=19037;ExAC.Info.AC_Hom=40527;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LIPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056C>A;snpeff.Amino_Acid_length=472;snpeff.Gene_Name=IFIT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1056C>A;snpeff.Amino_Acid_length=472;snpeff.Gene_Name=IFIT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaA;snpeff.Amino_Acid_Change=p.Asp352Glu/c.1056C>A;snpeff.Amino_Acid_length=472;snpeff.Gene_Name=IFIT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371829:ENST00000371826;SAVANT_GENE=LIPA:IFIT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA:IFIT2" target="_blank">LIPA:IFIT2</a>;SAVANT_INFO=-/129.1kb/11/3.1kb:+/7.3kb/2/3.5kb;SAVANT_LOC=5UTR:Ex2;SAVANT_HGVS=c.-59364G>T:c.1056C>A_p.Asp352Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPA:IFIT2+c.-59364G>T:c.1056C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91066769">View</a>	GT:AD:DP:GQ:PL:TP	0|0:159,0:159:99:0,478,5566:127	0|1:104,79:183:99:2171,0,3161:127	0|1:67,79:146:99:2442,0,1945:127
10	91092231	.	T	A	4576.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=388;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10509570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10509570" target="_blank">rs10509570</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=IFIT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFIT3" target="_blank">IFIT3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LIPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFIT3" target="_blank">IFIT3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371829:ENST00000371818;SAVANT_GENE=LIPA:IFIT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA:IFIT3" target="_blank">LIPA:IFIT3</a>;SAVANT_INFO=-/129.1kb/11/3.1kb:+/13.1kb/2/2.5kb;SAVANT_LOC=5UTR:In1/2;SAVANT_HGVS=c.-84826A>T:c.5+4396T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIPA:IFIT3+c.-84826A>T:c.5+4396T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91092231">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,301,3330:127	0|0:157,0:157:99:0,472,5474:127	0|1:58,73:131:99:2307,0,1599:127
10	91162497	.	A	G	24064.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs303211;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=303211" target="_blank">rs303211</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=121684;ExAC.Info.AN=126704;ExAC.Info.AF=0.960;ExAC.Info.AC_Het=4752;ExAC.Info.AC_Hom=58450;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LIPA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465A>G;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=IFIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465A>G;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=IFIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys155Lys/c.465A>G;snpeff.Amino_Acid_length=478;snpeff.Gene_Name=IFIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPA" target="_blank">LIPA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371804;SAVANT_GENE=IFIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFIT1" target="_blank">IFIT1</a>;SAVANT_INFO=+/11.4kb/2/1.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.465A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFIT1+c.465A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91162497">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3378,283,0:127	1|1:0,94:94:99:3417,283,0:127	1|1:0,103:103:99:3588,309,0:127
10	91174566	.	G	T	860.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12762146;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12762146" target="_blank">rs12762146</a>;ExAC.Info.AC=8694;ExAC.Info.AN=126508;ExAC.Info.AF=0.069;ExAC.Info.AC_Het=7688;ExAC.Info.AC_Hom=427;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5+6G>T;snpeff.Amino_Acid_length=482;snpeff.Gene_Name=IFIT5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFIT5" target="_blank">IFIT5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371795;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371795;SAVANT_GENE=IFIT5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFIT5" target="_blank">IFIT5</a>;SAVANT_INFO=+/6.4kb/2/4.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.5+6G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFIT5+c.5+6G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91174566">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1384:120	0|0:56,0:56:99:0,168,1931:120	0|1:19,17:36:99:449,0,593:120
10	91222287	.	A	C	17043.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=562;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Cataract|_juvenile|_with_microcornea_and_glucosuria|_612018_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740030" target="_blank">rs3740030</a>;ExAC.Info.AC=10208;ExAC.Info.AN=126656;ExAC.Info.AF=0.081;ExAC.Info.AC_Het=9018;ExAC.Info.AC_Hom=547;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.201A>C;snpeff.Gene_Name=RP11-168O10.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O106" target="_blank">RP11-168O106</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000454270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Ggg;snpeff.Amino_Acid_Change=p.Trp17Gly/c.49T>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=SLC16A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-168O106" target="_blank">RP11-168O106</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371790;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371790;SAVANT_GENE=SLC16A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC16A12" target="_blank">SLC16A12</a>;SAVANT_INFO=-/105.3kb/8/4.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.49T>G_p.Trp17Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC16A12+c.49T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91222287">View</a>	GT:AD:DP:GQ:PL:TP	0/1:96,84:180:99:2313,0,2662:127	0/1:108,106:214:99:3030,0,3144:127	0/1:84,84:168:99:2547,0,2227:127
10	91352667	.	A	G	2132.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10509577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10509577" target="_blank">rs10509577</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1611+287T>C;snpeff.Amino_Acid_length=598;snpeff.Gene_Name=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307534;SAVANT_GENE=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;SAVANT_INFO=-/62.5kb/7/3.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1611+287T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PANK1+c.1611+287T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91352667">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2433:127	0|0:100,1:101:99:0,294,3462:127	0|1:44,38:82:99:1085,0,1214:127
10	91352966	.	G	A	9486.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2296616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296616" target="_blank">rs2296616</a>;ExAC.Info.AC=78249;ExAC.Info.AN=126690;ExAC.Info.AF=0.618;ExAC.Info.AC_Het=28211;ExAC.Info.AC_Hom=24993;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1599G>A;snpeff.Amino_Acid_length=598;snpeff.Gene_Name=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys533Cys/c.1599C>T;snpeff.Amino_Acid_length=598;snpeff.Gene_Name=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307534;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307534;SAVANT_GENE=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;SAVANT_INFO=-/62.5kb/7/3.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1599C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PANK1+c.1599C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91352966">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,28:66:99:731,0,998:127	1|1:0,77:77:99:2595,231,0:127	0|1:26,29:55:99:801,0,720:127
10	91371445	.	C	A	14710.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7896079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7896079" target="_blank">rs7896079</a>;ExAC.Info.AC=74187;ExAC.Info.AN=126622;ExAC.Info.AF=0.586;ExAC.Info.AC_Het=29324;ExAC.Info.AC_Hom=21819;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1056+8G>T;snpeff.Amino_Acid_length=598;snpeff.Gene_Name=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1057G>T;snpeff.Amino_Acid_length=598;snpeff.Gene_Name=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307534;SAVANT_GENE=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;SAVANT_INFO=-/62.5kb/7/3.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.1056+8G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PANK1+c.1056+8G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91371445">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1970,156,0:104	1|1:0,62:62:99:2790,187,0:104	1|1:0,34:34:99:1382,105,0:104
10	91371446	.	G	A	7617.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs72818709;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72818709" target="_blank">rs72818709</a>;ExAC.Info.AC=24389;ExAC.Info.AN=126644;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=18418;ExAC.Info.AC_Hom=2790;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1056+7C>T;snpeff.Amino_Acid_length=598;snpeff.Gene_Name=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1057C>T;snpeff.Amino_Acid_length=598;snpeff.Gene_Name=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307534;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307534;SAVANT_GENE=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;SAVANT_INFO=-/62.5kb/7/3.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.1056+7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PANK1+c.1056+7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91371446">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,18:52:99:465,0,1044:127	1|1:0,62:62:99:2278,186,0:127	0|1:16,19:35:99:513,0,450:127
10	91373624	.	G	A	11069.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7091626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7091626" target="_blank">rs7091626</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.704-1819C>T;snpeff.Amino_Acid_length=598;snpeff.Gene_Name=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307534;SAVANT_GENE=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;SAVANT_INFO=-/62.5kb/7/3.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.704-1819C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PANK1+c.704-1819C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91373624">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1199,96,0:107	1|1:0,36:36:99:1593,108,0:107	1|1:0,42:42:99:1714,129,0:107
10	91373631	.	G	A	5612.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs56160723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56160723" target="_blank">rs56160723</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.704-1826C>T;snpeff.Amino_Acid_length=598;snpeff.Gene_Name=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307534;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307534;SAVANT_GENE=PANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PANK1" target="_blank">PANK1</a>;SAVANT_INFO=-/62.5kb/7/3.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.704-1826C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PANK1+c.704-1826C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91373631">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,14:36:99:450,0,649:110	1|1:0,37:37:99:1360,111,0:110	0|1:24,23:47:99:649,0,659:110
10	91465266	.	G	A	2343.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72818759;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72818759" target="_blank">rs72818759</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.147+68G>A;snpeff.Amino_Acid_length=1850;snpeff.Gene_Name=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000416354;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260753;SAVANT_GENE=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;SAVANT_INFO=+/73.3kb/33/6.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.147+68G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF20B+c.147+68G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91465266">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,16:34:99:462,0,563:127	0|0:57,0:57:99:0,171,2187:127	1|0:21,21:42:99:619,0,677:127
10	91479211	.	G	T	2054.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17484219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17484219" target="_blank">rs17484219</a>;ExAC.Info.AC=23699;ExAC.Info.AN=126546;ExAC.Info.AF=0.187;ExAC.Info.AC_Het=18599;ExAC.Info.AC_Hom=2486;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaT;snpeff.Amino_Acid_Change=p.Glu490Asp/c.1470G>T;snpeff.Amino_Acid_length=1850;snpeff.Gene_Name=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000416354;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260753;SAVANT_GENE=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;SAVANT_INFO=+/73.3kb/33/6.3kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1470G>T_p.Glu490Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF20B+c.1470G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91479211">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,18:40:99:474,0,688:114	0|0:38,0:38:99:0,114,1429:114	1|0:16,16:32:99:409,0,419:114
10	91487649	.	A	T	11030.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12572012;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12572012" target="_blank">rs12572012</a>;ExAC.Info.AC=27802;ExAC.Info.AN=126522;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=20829;ExAC.Info.AC_Hom=3169;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aTt;snpeff.Amino_Acid_Change=p.Asn756Ile/c.2267A>T;snpeff.Amino_Acid_length=1850;snpeff.Gene_Name=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000416354;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260753;SAVANT_GENE=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;SAVANT_INFO=+/73.3kb/33/6.3kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2147A>T_p.Asn716Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF20B+c.2147A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91487649">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,43:106:99:1095,0,1707:127	1|1:0,85:85:99:3014,256,0:127	0|1:34,48:82:99:1293,0,935:127
10	91488979	.	A	T	8822.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3758388;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758388" target="_blank">rs3758388</a>;ExAC.Info.AC=28011;ExAC.Info.AN=126352;ExAC.Info.AF=0.222;ExAC.Info.AC_Het=21189;ExAC.Info.AC_Hom=3322;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cTt;snpeff.Amino_Acid_Change=p.His789Leu/c.2366A>T;snpeff.Amino_Acid_length=1850;snpeff.Gene_Name=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000416354;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260753;SAVANT_GENE=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;SAVANT_INFO=+/73.3kb/33/6.3kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2246A>T_p.His749Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF20B+c.2246A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91488979">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,43:79:99:1131,0,892:127	1|1:0,77:77:99:2613,231,0:127	0|1:26,21:47:99:580,0,725:127
10	91498127	.	T	C	22057.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1886996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1886996" target="_blank">rs1886996</a>;ExAC.Info.AC=100409;ExAC.Info.AN=126664;ExAC.Info.AF=0.793;ExAC.Info.AC_Het=19543;ExAC.Info.AC_Hom=40239;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys1207Arg/c.3619T>C;snpeff.Amino_Acid_length=1850;snpeff.Gene_Name=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000416354;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260753;SAVANT_GENE=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;SAVANT_INFO=+/73.3kb/33/6.3kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.3409T>C_p.Cys1137Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF20B+c.3409T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91498127">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:2928,261,0:127	1|1:0,104:104:99:3483,312,0:127	1|1:0,94:94:99:3215,282,0:127
10	91505768	.	C	T	2524.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12414650;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12414650" target="_blank">rs12414650</a>;ExAC.Info.AC=28124;ExAC.Info.AN=126634;ExAC.Info.AF=0.222;ExAC.Info.AC_Het=20666;ExAC.Info.AC_Hom=3238;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4186+52C>T;snpeff.Amino_Acid_length=1850;snpeff.Gene_Name=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000416354;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260753;SAVANT_GENE=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;SAVANT_INFO=+/73.3kb/33/6.3kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3976+52C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF20B+c.3976+52C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91505768">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,15:32:99:435,0,540:120	0|0:40,0:40:99:0,120,1384:120	1|0:17,21:38:99:684,0,493:120
10	91522548	.	A	G	18735.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=867;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34354493;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34354493" target="_blank">rs34354493</a>;ExAC.Info.AC=23208;ExAC.Info.AN=126628;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=18197;ExAC.Info.AC_Hom=2464;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys1679Glu/c.5035A>G;snpeff.Amino_Acid_length=1850;snpeff.Gene_Name=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000416354;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260753;SAVANT_GENE=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;SAVANT_INFO=+/73.3kb/33/6.3kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.4825A>G_p.Lys1609Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF20B+c.4825A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91522548">View</a>	GT:AD:DP:GQ:PL:TP	1|0:115,131:246:99:3678,0,3020:127	0|0:336,1:337:99:0,970,10918:127	1|0:123,161:284:99:4698,0,3220:127
10	91522605	.	G	C	38633.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=477;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3740038;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740038" target="_blank">rs3740038</a>;ExAC.Info.AC=99574;ExAC.Info.AN=126480;ExAC.Info.AF=0.787;ExAC.Info.AC_Het=19406;ExAC.Info.AC_Hom=38491;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5079+13G>C;snpeff.Amino_Acid_length=1850;snpeff.Gene_Name=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000416354;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260753;SAVANT_GENE=KIF20B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF20B" target="_blank">KIF20B</a>;SAVANT_INFO=+/73.3kb/33/6.3kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.4869+13G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF20B+c.4869+13G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:91522605">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,130:130:99:4894,391,0:127	1|1:0,183:183:99:6652,550,0:127	1|1:0,164:164:99:6102,493,0:127
10	92503619	.	T	C	12475.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=520;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740048;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740048" target="_blank">rs3740048</a>;ExAC.Info.AC=5395;ExAC.Info.AN=54544;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=2733;ExAC.Info.AC_Hom=290;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAc/tGc;snpeff.Amino_Acid_Change=p.Tyr461Cys/c.1382A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=HTR7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTR7" target="_blank">HTR7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371721;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336152;SAVANT_GENE=HTR7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTR7" target="_blank">HTR7</a>;SAVANT_INFO=-/116.9kb/4/3.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.1296-172A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HTR7+c.1296-172A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:92503619">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,83:162:99:2494,0,2174:127	1|0:90,88:178:99:2573,0,2532:127	0|0:180,0:180:99:0,540,5853:127
10	92678740	.	AATAAATAAATATATATAT	A	44813.5	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=504;MQ=69.48;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs72003210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72003210" target="_blank">rs72003210</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346-29_346-12delATATATATATTTATTTAT;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=ANKRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD1" target="_blank">ANKRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371697;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371697;SAVANT_GENE=ANKRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD1" target="_blank">ANKRD1</a>;SAVANT_INFO=-/9.2kb/9/2.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.346-29_346-12del18;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD1+c.346-29_346-12del18+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:92678740">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,108:129:99:4602,0,556:127	0|1:25,137:162:99:5879,0,592:127	1|1:0,213:213:99:9829,666,0:127
10	92678765	.	A	G	48066.54	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=539;MQ=69.45;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs56177217;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56177217" target="_blank">rs56177217</a>;ExAC.Info.AC=59851;ExAC.Info.AN=113814;ExAC.Info.AF=0.526;ExAC.Info.AC_Het=25611;ExAC.Info.AC_Hom=15975;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346-36T>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=ANKRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD1" target="_blank">ANKRD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371697;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371697;SAVANT_GENE=ANKRD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD1" target="_blank">ANKRD1</a>;SAVANT_INFO=-/9.2kb/9/2.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.346-36T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD1+c.346-36T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:92678765">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,116:130:99:4779,0,247:127	0|1:16,153:169:99:6271,0,214:127	1|1:0,240:240:99:10712,739,0:127
10	93000211	.	G	A	11191.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10881907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10881907" target="_blank">rs10881907</a>;ExAC.Info.AC=52170;ExAC.Info.AN=126682;ExAC.Info.AF=0.412;ExAC.Info.AC_Het=28730;ExAC.Info.AC_Hom=11660;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.113-30G>A;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=PCGF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCGF5" target="_blank">PCGF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543648;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113G>A;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=PCGF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCGF5" target="_blank">PCGF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543648;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113G>A;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=PCGF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCGF5" target="_blank">PCGF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543648;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336126;SAVANT_GENE=PCGF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCGF5" target="_blank">PCGF5</a>;SAVANT_INFO=+/63.5kb/10/7.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.113-30G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCGF5+c.113-30G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93000211">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1621,141,0:127	1|1:0,44:44:99:1610,132,0:127	1|1:0,50:50:99:1683,150,0:127
10	93024316	.	T	TA	1289.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11406829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11406829" target="_blank">rs11406829</a>;ExAC.Info.AC=10050;ExAC.Info.AN=126614;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=8313;ExAC.Info.AC_Hom=799;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.663+40_663+41insA;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=PCGF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCGF5" target="_blank">PCGF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543648;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000336126;SAVANT_GENE=PCGF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCGF5" target="_blank">PCGF5</a>;SAVANT_INFO=+/63.5kb/10/7.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.663+40dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCGF5+c.663+40dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93024316">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,187,2312:127	0|1:23,21:44:99:668,0,726:127	0|0:55,0:55:99:0,166,2049:127
10	93031502	.	G	A	4062.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35609498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35609498" target="_blank">rs35609498</a>;ExAC.Info.AC=7543;ExAC.Info.AN=126688;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=6950;ExAC.Info.AC_Hom=286;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.723+48G>A;snpeff.Amino_Acid_length=256;snpeff.Gene_Name=PCGF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCGF5" target="_blank">PCGF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543648;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336126;SAVANT_GENE=PCGF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCGF5" target="_blank">PCGF5</a>;SAVANT_INFO=+/63.5kb/10/7.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.723+48G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PCGF5+c.723+48G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93031502">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,3065:127	0|1:72,71:143:99:2050,0,1925:127	0|0:68,0:68:99:0,204,2275:127
10	93170250	.	C	G	13726.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7081569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7081569" target="_blank">rs7081569</a>;ExAC.Info.AC=68128;ExAC.Info.AN=68160;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=6898;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Gcc;snpeff.Amino_Acid_Change=p.Pro19Ala/c.55C>G;snpeff.Amino_Acid_length=780;snpeff.Gene_Name=HECTD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD2" target="_blank">HECTD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446394;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298068;SAVANT_GENE=HECTD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD2" target="_blank">HECTD2</a>;SAVANT_INFO=+/104.4kb/21/4.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.55C>G_p.Pro19Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HECTD2+c.55C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93170250">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1797,147,0:113	1|1:0,38:38:99:1489,114,0:113	1|1:0,48:48:99:1805,144,0:113
10	93170365	.	CG	C	7208.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=76;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs71025355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71025355" target="_blank">rs71025355</a>;ExAC.Info.AC=63460;ExAC.Info.AN=63472;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=1806;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.138+33delG;snpeff.Amino_Acid_length=780;snpeff.Gene_Name=HECTD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD2" target="_blank">HECTD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446394;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000298068;SAVANT_GENE=HECTD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HECTD2" target="_blank">HECTD2</a>;SAVANT_INFO=+/104.4kb/21/4.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.138+34delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HECTD2+c.138+34delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93170365">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:745,60,0:74	1|1:0,25:25:75:929,75,0:74	1|1:0,31:31:93:1160,93,0:74
10	93579003	.	C	CT	2178.0	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs34501124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34501124" target="_blank">rs34501124</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.521-23_521-22insT;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371627;SAVANT_GENE=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;SAVANT_INFO=+/67.0kb/27/6.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.521-12dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNKS2+c.521-12dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93579003">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,19:38:99:339,0,389:23	1|0:5,32:37:23:697,0,23:23	0|0:37,1:38:87:0,87,897:23
10	93579117	.	C	T	863.06	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=154;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.557+54C>T;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371627;SAVANT_GENE=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;SAVANT_INFO=+/67.0kb/27/6.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.557+54C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNKS2+c.557+54C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93579117">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,20:56:99:163,0,643:91	0/1:38,19:57:99:182,0,830:91	0/1:29,12:41:92:92,0,726:91
10	93600297	.	ATGTTG	A	3511.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs111962010;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111962010" target="_blank">rs111962010</a>;ExAC.Info.AC=22838;ExAC.Info.AN=126686;ExAC.Info.AF=0.180;ExAC.Info.AC_Het=18428;ExAC.Info.AC_Hom=2187;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1528-20_1528-16delTGTTG;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1528_1532delTGTTG;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1528_1532delTGTTG;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371627;SAVANT_GENE=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;SAVANT_INFO=+/67.0kb/27/6.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1528-16_1528-12del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNKS2+c.1528-16_1528-12del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93600297">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,270,5439:127	0|1:65,47:112:99:1779,0,3722:127	0|0:142,0:142:99:0,427,8577:127
10	93608142	.	G	A	7903.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3758499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758499" target="_blank">rs3758499</a>;ExAC.Info.AC=47152;ExAC.Info.AN=126682;ExAC.Info.AF=0.372;ExAC.Info.AC_Het=28249;ExAC.Info.AC_Hom=9431;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala787Ala/c.2361G>A;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2361G>A;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371627;SAVANT_GENE=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;SAVANT_INFO=+/67.0kb/27/6.2kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2361G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNKS2+c.2361G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93608142">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,56:126:99:1571,0,1989:127	1|0:75,68:143:99:2056,0,2063:127	0|0:120,0:120:99:0,360,3841:127
10	93617306	.	A	G	18693.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=487;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1340420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1340420" target="_blank">rs1340420</a>;ExAC.Info.AC=89053;ExAC.Info.AN=126664;ExAC.Info.AF=0.703;ExAC.Info.AC_Het=23952;ExAC.Info.AC_Hom=32089;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3094+19A>G;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3095A>G;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3095A>G;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3095A>G;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3095A>G;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3095A>G;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PARP_catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3095A>G;snpeff.Amino_Acid_length=1166;snpeff.Gene_Name=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371627;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371627;SAVANT_GENE=TNKS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS2" target="_blank">TNKS2</a>;SAVANT_INFO=+/67.0kb/27/6.2kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.3094+19A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNKS2+c.3094+19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93617306">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,67:123:99:1954,0,1580:127	1|1:0,207:207:99:6803,621,0:127	0|0:157,0:157:99:0,472,5231:127
10	93668110	.	T	A	2384.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1107947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1107947" target="_blank">rs1107947</a>;ExAC.Info.AC=24661;ExAC.Info.AN=126690;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=19065;ExAC.Info.AC_Hom=2773;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.119+104T>A;snpeff.Gene_Name=RP11-402D21.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-402D212" target="_blank">RP11-402D212</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000610263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gTg;snpeff.Amino_Acid_Change=p.Glu206Val/c.617A>T;snpeff.Amino_Acid_length=258;snpeff.Gene_Name=FGFBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-402D212" target="_blank">RP11-402D212</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311575;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311575;SAVANT_GENE=FGFBP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFBP3" target="_blank">FGFBP3</a>;SAVANT_INFO=-/2.9kb/2/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.617A>T_p.Glu206Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FGFBP3+c.617A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93668110">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,249,2757:127	0|1:45,45:90:99:1211,0,1330:127	0|0:65,0:65:99:0,195,2204:127
10	93756883	.	ACT	A	5926.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10591030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10591030" target="_blank">rs10591030</a>;ExAC.Info.AC=2254;ExAC.Info.AN=16736;ExAC.Info.AF=0.135;ExAC.Info.AC_Het=1755;ExAC.Info.AC_Hom=169;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3512-476_3512-475delCT;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=BTAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTAF1" target="_blank">BTAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265990;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000265990;SAVANT_GENE=BTAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTAF1" target="_blank">BTAF1</a>;SAVANT_INFO=+/106.3kb/38/7.0kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.3512-474_3512-473delCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTAF1+c.3512-474_3512-473delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93756883">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,2540:127	0|1:27,34:61:99:1330,0,1041:127	0|1:35,43:78:99:1658,0,1333:127
10	93786557	.	A	C	5076.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61876492;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61876492" target="_blank">rs61876492</a>;ExAC.Info.AC=35562;ExAC.Info.AN=125962;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=18635;ExAC.Info.AC_Hom=4639;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5235+49A>C;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=BTAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTAF1" target="_blank">BTAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265990;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5236A>C;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=BTAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTAF1" target="_blank">BTAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265990;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5236A>C;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=BTAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTAF1" target="_blank">BTAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265990;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Helicase_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5236A>C;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=BTAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTAF1" target="_blank">BTAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265990;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265990;SAVANT_GENE=BTAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTAF1" target="_blank">BTAF1</a>;SAVANT_INFO=+/106.3kb/38/7.0kb;SAVANT_LOC=In36/37;SAVANT_HGVS=c.5235+49A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTAF1+c.5235+49A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93786557">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,35:74:99:962,0,1013:127	0|0:70,0:70:99:0,209,2229:127	1|0:44,40:84:99:1113,0,1156:127
10	93841227	.	A	G	29527.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2676811;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2676811" target="_blank">rs2676811</a>;ExAC.Info.AC=126700;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=63327;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1719A>G;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1719A>G;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1719A>G;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr573Tyr/c.1719T>C;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265997;SAVANT_GENE=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;SAVANT_INFO=-/241.5kb/10/4.9kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1719T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPEB3+c.1719T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93841227">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3541,318,0:127	1|1:0,137:137:99:4554,412,0:127	1|1:0,120:120:99:4100,360,0:127
10	93851714	.	T	C	25396.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1229578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1229578" target="_blank">rs1229578</a>;ExAC.Info.AC=97937;ExAC.Info.AN=126702;ExAC.Info.AF=0.773;ExAC.Info.AC_Het=20492;ExAC.Info.AC_Hom=38660;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1573-13A>G;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573T>C;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573T>C;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573T>C;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573T>C;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573T>C;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RRM_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573T>C;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265997;SAVANT_GENE=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;SAVANT_INFO=-/241.5kb/10/4.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1573-13A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPEB3+c.1573-13A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93851714">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,97:98:99:3199,284,0:127	1|1:0,144:144:99:4847,433,0:127	1|1:0,84:84:99:2830,252,0:127
10	93999850	.	A	G	13435.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3824734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824734" target="_blank">rs3824734</a>;ExAC.Info.AC=67488;ExAC.Info.AN=121552;ExAC.Info.AF=0.555;ExAC.Info.AC_Het=15168;ExAC.Info.AC_Hom=11183;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258A>G;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro86Pro/c.258T>C;snpeff.Amino_Acid_length=698;snpeff.Gene_Name=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265997;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265997;SAVANT_GENE=CPEB3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPEB3" target="_blank">CPEB3</a>;SAVANT_INFO=-/241.5kb/10/4.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.258T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPEB3+c.258T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:93999850">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,44:94:99:1294,0,1538:127	0|1:52,51:103:99:1567,0,1610:127	1|1:0,76:76:99:2823,229,0:127
10	94235764	.	T	A	1610.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72809183;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72809183" target="_blank">rs72809183</a>;ExAC.Info.AC=857;ExAC.Info.AN=125094;ExAC.Info.AF=6.851e-03;ExAC.Info.AC_Het=655;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1885-13A>T;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=IDE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDE" target="_blank">IDE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265986;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1885T>A;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=IDE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDE" target="_blank">IDE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265986;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1885T>A;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=IDE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDE" target="_blank">IDE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265986;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265986;SAVANT_GENE=IDE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDE" target="_blank">IDE</a>;SAVANT_INFO=-/122.4kb/25/5.9kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1885-13A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IDE+c.1885-13A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94235764">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2083:127	0|1:36,31:67:99:824,0,1078:127	0|0:52,0:52:99:0,156,1808:127
10	94266330	.	CT	C	182.14	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=54;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs34053974;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34053974" target="_blank">rs34053974</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1246-52delA;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=IDE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDE" target="_blank">IDE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265986;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1246delT;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=IDE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDE" target="_blank">IDE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265986;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1246delT;snpeff.Amino_Acid_length=1019;snpeff.Gene_Name=IDE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDE" target="_blank">IDE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265986;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000265986;SAVANT_GENE=IDE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IDE" target="_blank">IDE</a>;SAVANT_INFO=-/122.4kb/25/5.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1246-52delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=IDE+c.1246-52delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94266330">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,2:11:19:19,0,190:15	0/1:17,3:20:18:18,0,360:15	0/1:17,6:23:87:87,0,336:15
10	94392513	.	A	ATAATT	5854.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Microcephaly_with_or_without_chorioretinopathy|_lymphedema|_or_mental_retardation|_152950_(3);dbSNP139.ID=rs113828479;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113828479" target="_blank">rs113828479</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1702+64_1702+65insTAATT;snpeff.Amino_Acid_length=1056;snpeff.Gene_Name=KIF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF11" target="_blank">KIF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260731;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000260731;SAVANT_GENE=KIF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF11" target="_blank">KIF11</a>;SAVANT_INFO=+/62.1kb/22/4.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1702+65_1702+69dup5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF11+c.1702+65_1702+69dup5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94392513">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,42:75:99:1663,0,2075:127	0|0:89,0:89:99:0,269,6225:127	1|0:39,38:77:99:1475,0,2529:127
10	94408207	.	A	G	17521.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=600;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Microcephaly_with_or_without_chorioretinopathy|_lymphedema|_or_mental_retardation|_152950_(3);dbSNP139.ID=rs72811230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72811230" target="_blank">rs72811230</a>;ExAC.Info.AC=6775;ExAC.Info.AN=126582;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=6204;ExAC.Info.AC_Hom=232;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2770+16A>G;snpeff.Amino_Acid_length=1056;snpeff.Gene_Name=KIF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF11" target="_blank">KIF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260731;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260731;SAVANT_GENE=KIF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF11" target="_blank">KIF11</a>;SAVANT_INFO=+/62.1kb/22/4.9kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2770+16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF11+c.2770+16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94408207">View</a>	GT:AD:DP:GQ:PL:TP	0/1:90,95:185:99:2900,0,2320:127	0/1:100,104:204:99:3197,0,2962:127	0/1:110,101:211:99:2936,0,3132:127
10	94409800	.	C	T	4899.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Microcephaly_with_or_without_chorioretinopathy|_lymphedema|_or_mental_retardation|_152950_(3);dbSNP139.ID=rs6583833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6583833" target="_blank">rs6583833</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2922+57C>T;snpeff.Amino_Acid_length=1056;snpeff.Gene_Name=KIF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF11" target="_blank">KIF11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260731;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260731;SAVANT_GENE=KIF11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF11" target="_blank">KIF11</a>;SAVANT_INFO=+/62.1kb/22/4.9kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2922+57C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF11+c.2922+57C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94409800">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,35:78:99:1092,0,1484:127	0|0:74,0:74:99:0,223,2981:127	1|0:43,34:77:99:1109,0,1387:127
10	94490174	.	T	C	10527.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=245;MQ=69.70;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2488075;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2488075" target="_blank">rs2488075</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2488075" target="_blank">rs2488075</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94490174">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,41:87:99:971,0,1186:127	1|1:0,98:98:99:2960,294,0:127	0|1:27,33:60:99:774,0,753:127
10	94507612	.	A	G	7445.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2488066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2488066" target="_blank">rs2488066</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2488066" target="_blank">rs2488066</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94507612">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,28:54:99:740,0,690:127	0|1:27,24:51:99:652,0,705:127	1|1:0,57:57:99:1843,171,0:127
10	94511683	.	G	T	54501.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=701;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2096177;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2096177" target="_blank">rs2096177</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2096177" target="_blank">rs2096177</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94511683">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,241:241:99:7381,724,0:127	1|1:0,232:232:99:7651,697,0:127	1|1:0,228:228:99:7608,688,0:127
10	94594565	.	G	A	43989.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=704;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2490741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2490741" target="_blank">rs2490741</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=83592;ExAC.Info.AN=126704;ExAC.Info.AF=0.660;ExAC.Info.AC_Het=25927;ExAC.Info.AC_Hom=28814;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val45Ile/c.133G>A;snpeff.Amino_Acid_length=820;snpeff.Gene_Name=EXOC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOC6" target="_blank">EXOC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371547;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOC6" target="_blank">EXOC6</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXOC6+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94594565">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,215:215:99:7028,646,0:127	1|1:0,256:256:99:8927,769,0:127	1|0:122,111:233:99:3027,0,3727:127
10	94695555	.	G	A	14901.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1326330;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1326330" target="_blank">rs1326330</a>;ExAC.Info.AC=32245;ExAC.Info.AN=126686;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=23468;ExAC.Info.AC_Hom=4291;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1189-16G>A;snpeff.Amino_Acid_length=820;snpeff.Gene_Name=EXOC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOC6" target="_blank">EXOC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371547;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260762;SAVANT_GENE=EXOC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOC6" target="_blank">EXOC6</a>;SAVANT_INFO=+/211.0kb/22/3.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1141-16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXOC6+c.1141-16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94695555">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,105:105:99:3133,315,0:127	1|0:44,67:111:99:1824,0,1186:127	1|0:55,47:102:99:1179,0,1463:127
10	94695617	.	C	T	18456.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1326331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1326331" target="_blank">rs1326331</a>;ExAC.Info.AC=97664;ExAC.Info.AN=126692;ExAC.Info.AF=0.771;ExAC.Info.AC_Het=20570;ExAC.Info.AC_Hom=38386;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aTt;snpeff.Amino_Acid_Change=p.Thr412Ile/c.1235C>T;snpeff.Amino_Acid_length=820;snpeff.Gene_Name=EXOC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOC6" target="_blank">EXOC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371547;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260762;SAVANT_GENE=EXOC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOC6" target="_blank">EXOC6</a>;SAVANT_INFO=+/211.0kb/22/3.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1187C>T_p.Thr396Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXOC6+c.1187C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94695617">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2803,246,0:127	1|0:48,62:110:99:1703,0,1440:127	1|1:0,104:104:99:3541,313,0:127
10	94816807	.	G	GA	18813.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs60582805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60582805" target="_blank">rs60582805</a>;ExAC.Info.AC=111698;ExAC.Info.AN=126676;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=12505;ExAC.Info.AC_Hom=49418;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2330+15_2330+16insA;snpeff.Amino_Acid_length=820;snpeff.Gene_Name=EXOC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOC6" target="_blank">EXOC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371547;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000260762;SAVANT_GENE=EXOC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOC6" target="_blank">EXOC6</a>;SAVANT_INFO=+/211.0kb/22/3.6kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2282+17dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXOC6+c.2282+17dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94816807">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2351,210,0:127	1|1:0,99:99:99:3316,297,0:127	1|1:0,82:82:99:2788,249,0:127
10	94820860	.	A	G	8732.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1538648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1538648" target="_blank">rs1538648</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1538648" target="_blank">rs1538648</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94820860">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,41:80:99:1312,0,1084:127	1|1:0,78:78:99:2788,234,0:127	0|0:83,0:83:99:0,249,2789:127
10	94822686	.	C	T	10729.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Focal_facial_dermal_dysplasia_4|_614974_(3);dbSNP139.ID=rs55843714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55843714" target="_blank">rs55843714</a>;ExAC.Info.AC=56681;ExAC.Info.AN=123832;ExAC.Info.AF=0.458;ExAC.Info.AC_Het=25666;ExAC.Info.AC_Hom=14495;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr213Thr/c.639C>T;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=CYP26C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP26C1" target="_blank">CYP26C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000285949;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000285949;SAVANT_GENE=CYP26C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP26C1" target="_blank">CYP26C1</a>;SAVANT_INFO=+/7.4kb/6/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.639C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP26C1+c.639C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94822686">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1802,171,0:127	1|1:0,45:45:99:1556,135,0:127	1|0:19,24:43:99:658,0,549:127
10	94822895	.	G	T	3598.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=37;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Focal_facial_dermal_dysplasia_4|_614974_(3);dbSNP139.ID=rs12263200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12263200" target="_blank">rs12263200</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.705+143G>T;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=CYP26C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP26C1" target="_blank">CYP26C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000285949;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000285949;SAVANT_GENE=CYP26C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP26C1" target="_blank">CYP26C1</a>;SAVANT_INFO=+/7.4kb/6/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.705+143G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP26C1+c.705+143G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:94822895">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,10:10:30:321,30,0:35	1|1:0,15:15:45:564,45,0:35	1|1:0,12:12:36:411,36,0:35
10	95018382	.	G	T	7007.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11187350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11187350" target="_blank">rs11187350</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11187350" target="_blank">rs11187350</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95018382">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,59:130:99:1475,0,2077:127	0|0:148,0:148:99:0,445,5569:127	1|0:69,64:133:99:1743,0,2217:127
10	95018444	.	G	A	10194.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7091054;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7091054" target="_blank">rs7091054</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7091054" target="_blank">rs7091054</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95018444">View</a>	GT:AD:DP:GQ:PL:TP	0|1:83,84:167:99:2172,0,2188:127	1|0:85,100:185:99:2797,0,2469:127	0|0:201,0:201:99:0,604,7038:127
10	95072906	.	T	C	11216.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs787666;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=787666" target="_blank">rs787666</a>;ExAC.Info.AC=106323;ExAC.Info.AN=125224;ExAC.Info.AF=0.849;ExAC.Info.AC_Het=15784;ExAC.Info.AC_Hom=45225;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5760T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg1920Arg/c.5760A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=Ex51;SAVANT_HGVS=c.5760A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.5760A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95072906">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,33:79:99:890,0,1304:127	1|1:0,80:80:99:2889,240,0:127	0|1:39,37:76:99:1036,0,1047:127
10	95095667	.	A	G	15722.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=874;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7097740;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7097740" target="_blank">rs7097740</a>;ExAC.Info.AC=42410;ExAC.Info.AN=125212;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=23544;ExAC.Info.AC_Hom=9410;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4563+11T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4564A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.4563+11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.4563+11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95095667">View</a>	GT:AD:DP:GQ:PL:TP	1|0:120,136:256:99:3699,0,3395:127	0|0:369,1:370:99:0,1074,12416:127	1|0:128,120:248:99:3217,0,3502:127
10	95097537	.	T	C	18771.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1614065;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1614065" target="_blank">rs1614065</a>;ExAC.Info.AC=96656;ExAC.Info.AN=125208;ExAC.Info.AF=0.772;ExAC.Info.AC_Het=21035;ExAC.Info.AC_Hom=37586;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4437+35A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4438T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=In40/41;SAVANT_HGVS=c.4437+35A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.4437+35A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95097537">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,63:143:99:1674,0,2231:127	0|1:93,84:177:99:2444,0,2624:127	1|1:0,118:118:99:4132,355,0:127
10	95098144	.	T	C	6831.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10786089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10786089" target="_blank">rs10786089</a>;ExAC.Info.AC=7858;ExAC.Info.AN=20758;ExAC.Info.AF=0.379;ExAC.Info.AC_Het=3753;ExAC.Info.AC_Hom=1712;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4339-474A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4339T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=In39/40;SAVANT_HGVS=c.4339-474A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.4339-474A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95098144">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,56:91:99:1730,0,1018:127	0|0:120,0:120:99:0,360,4286:127	1|0:47,38:85:99:1200,0,1448:127
10	95107324	.	A	AAAAAAAAG	4155.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.500;AN=4;DP=29;MQ=74.07;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4249+50_4249+49insCTTTTTTT;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250_4251insAAAAAAAG;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250_4251insAAAAAAAG;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250_4251insAAAAAAAG;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250_4251insAAAAAAAG;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250_4251insAAAAAAAG;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250_4251insAAAAAAAG;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250_4251insAAAAAAAG;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4250G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=In37/38;SAVANT_HGVS=c.4249+38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.4249+38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95107336">View</a>	GT:AD:DP:GQ:PL:TP	0|0:15,2:17:31:0,31,494:26	0|0:27,4:31:52:0,52,942:26	0|1:27,7:34:28:28,0,654:26
10	95162113	.	G	C	4208.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2272177;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272177" target="_blank">rs2272177</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.875-9C>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.875-9C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.875-9C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95162113">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,27:58:99:877,0,1049:127	1|0:19,29:48:99:958,0,585:127	0|0:49,0:49:99:0,147,1789:127
10	95162525	.	TC	T	4056.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3841653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3841653" target="_blank">rs3841653</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.874+91delG;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875delC;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875delC;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875delC;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875delC;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875delC;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875delC;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875delC;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875delC;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875delC;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875delC;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875delC;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.874+91delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.874+91delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95162525">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,15:25:99:393,0,236:93	0|1:14,21:35:99:527,0,330:93	1|1:0,31:31:93:967,93,0:93
10	95163883	.	G	A	5853.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56041929;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56041929" target="_blank">rs56041929</a>;ExAC.Info.AC=10665;ExAC.Info.AN=125340;ExAC.Info.AF=0.085;ExAC.Info.AC_Het=9625;ExAC.Info.AC_Hom=516;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.792+31C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_EHD2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_EHD2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.792+31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.792+31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95163883">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,39:76:99:942,0,1092:127	1|0:49,49:98:99:1419,0,1446:127	0|0:111,0:111:99:0,334,3952:127
10	95216590	.	C	T	5006.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs17481945;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17481945" target="_blank">rs17481945</a>;ExAC.Info.AC=27124;ExAC.Info.AN=125166;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=20676;ExAC.Info.AC_Hom=3061;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.144+49G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.144+49G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.144+49G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95216590">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,14:33:99:396,0,577:127	0/1:35,33:68:99:840,0,1008:127	0/1:25,31:56:99:908,0,766:127
10	95216623	.	A	G	6575.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs701882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=701882" target="_blank">rs701882</a>;ExAC.Info.AC=80393;ExAC.Info.AN=125106;ExAC.Info.AF=0.643;ExAC.Info.AC_Het=27654;ExAC.Info.AC_Hom=26223;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.144+16T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.144+16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.144+16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95216623">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,25:49:99:646,0,689:127	0/1:35,39:74:99:1233,0,957:127	0/1:31,32:63:99:880,0,811:127
10	95237963	.	A	G	12564.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3938769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3938769" target="_blank">rs3938769</a>;ExAC.Info.AC=12048;ExAC.Info.AN=15184;ExAC.Info.AF=0.793;ExAC.Info.AC_Het=1927;ExAC.Info.AC_Hom=4615;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.88+3901T>C;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89A>G;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.88+3901T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.88+3901T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95237963">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1907,168,0:127	1|0:53,55:108:99:1526,0,1385:127	1|1:0,54:54:99:1874,162,0:127
10	95238050	.	C	T	9285.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6583893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6583893" target="_blank">rs6583893</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.88+3814G>A;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" 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target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.89C>T;snpeff.Amino_Acid_length=2061;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359263;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359263;SAVANT_GENE=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=-/175.8kb/54/6.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.88+3814G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+c.88+3814G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95238050">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1330,114,0:112	1|0:34,31:65:99:984,0,938:112	1|1:0,39:39:99:1433,117,0:112
10	95241986	.	C	A	2287.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs882873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=882873" target="_blank">rs882873</a>;ExAC.Info.AC=24115;ExAC.Info.AN=125192;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=18251;ExAC.Info.AC_Hom=2899;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MYOF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOF" target="_blank">MYOF</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOF+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95241986">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2300:127	0|1:59,43:102:99:1162,0,1647:127	0|0:73,0:73:99:0,219,2475:127
10	95259979	.	C	G	5102.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=600;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740370;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740370" target="_blank">rs3740370</a>;ExAC.Info.AC=28477;ExAC.Info.AN=126704;ExAC.Info.AF=0.225;ExAC.Info.AC_Het=21572;ExAC.Info.AC_Hom=3423;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.171C>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.171C>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.171C>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.171C>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caC/caG;snpeff.Amino_Acid_Change=p.His57Gln/c.171C>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371485;SAVANT_GENE=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;SAVANT_INFO=+/32.5kb/9/2.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.171C>G_p.His57Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP55+c.171C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95259979">View</a>	GT:AD:DP:GQ:PL:TP	0|0:215,0:215:99:0,646,7223:127	0|1:116,90:206:99:2570,0,3527:127	0|0:179,0:179:99:0,538,6184:127
10	95262981	.	A	G	35062.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=437;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7080916;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7080916" target="_blank">rs7080916</a>;ExAC.Info.AC=126097;ExAC.Info.AN=126704;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=579;ExAC.Info.AC_Hom=62755;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr99Ala/c.295A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371485;SAVANT_GENE=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;SAVANT_INFO=+/32.5kb/9/2.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.295A>G_p.Thr99Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP55+c.295A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95262981">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,143:143:99:4807,429,0:127	1|1:0,167:167:99:5651,502,0:127	1|1:0,127:127:99:4580,382,0:127
10	95266683	.	A	G	8167.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=414;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs947599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=947599" target="_blank">rs947599</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.460-62A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.460A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.460A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.460A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.460A>G;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371485;SAVANT_GENE=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;SAVANT_INFO=+/32.5kb/9/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.460-62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP55+c.460-62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95266683">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,62:111:99:1781,0,1254:127	0|0:194,0:194:99:0,582,6531:127	1|0:56,53:109:99:1401,0,1497:127
10	95279506	.	A	T	29845.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2293277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2293277" target="_blank">rs2293277</a>;ExAC.Info.AC=89221;ExAC.Info.AN=126702;ExAC.Info.AF=0.704;ExAC.Info.AC_Het=23981;ExAC.Info.AC_Hom=32598;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1133A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1133A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_interphase_centrosome_and_to_the_midbody_during_cytokinesis];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1133A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_interphase_centrosome_and_to_the_midbody_during_cytokinesis];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1133A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_interphase_centrosome_and_to_the_midbody_during_cytokinesis];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1133A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cTt;snpeff.Amino_Acid_Change=p.His378Leu/c.1133A>T;snpeff.Amino_Acid_length=464;snpeff.Gene_Name=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371485;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371485;SAVANT_GENE=CEP55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP55" target="_blank">CEP55</a>;SAVANT_INFO=+/32.5kb/9/2.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1133A>T_p.His378Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CEP55+c.1133A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95279506">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3666,313,0:127	1|1:0,131:131:99:4632,394,0:127	1|1:0,129:129:99:4506,387,0:127
10	95347381	.	C	A	10419.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=537;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41290218;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41290218" target="_blank">rs41290218</a>;ExAC.Info.AC=23923;ExAC.Info.AN=126626;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=18396;ExAC.Info.AC_Hom=2565;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.*15C>A;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=FFAR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371483;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371483;SAVANT_GENE=O3FAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=O3FAR1" target="_blank">O3FAR1</a>;SAVANT_INFO=+/23.4kb/4/3.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*15C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=O3FAR1+c.*15C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95347381">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,72:148:99:2206,0,2250:127	0|0:224,1:225:99:0,635,7827:127	1|0:84,80:164:99:2448,0,2497:127
10	95347475	.	C	T	12156.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=713;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17108973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17108973" target="_blank">rs17108973</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=109;snpeff.Amino_Acid_Change=c.*109C>T;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=FFAR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371483;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371483;SAVANT_GENE=O3FAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=O3FAR1" target="_blank">O3FAR1</a>;SAVANT_INFO=+/23.4kb/4/3.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*109C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=O3FAR1+c.*109C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95347475">View</a>	GT:AD:DP:GQ:PL:TP	1|0:114,103:217:99:2643,0,3253:127	0|0:275,1:276:99:0,788,9471:127	1|0:105,115:220:99:3218,0,2966:127
10	95353817	.	C	G	3344.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Retinol_dystrophy|_iris_coloboma|_and_comedogenic_acne_syndrome|_615147_(3);dbSNP139.ID=rs12265684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12265684" target="_blank">rs12265684</a>;ExAC.Info.AC=25543;ExAC.Info.AN=126610;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=19235;ExAC.Info.AC_Hom=3033;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FFAR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.356-25G>C;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356C>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356C>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356C>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356C>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356C>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356C>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.356C>G;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371467;SAVANT_GENE=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBP4" target="_blank">RBP4</a>;SAVANT_INFO=-/10.0kb/6/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.356-25G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBP4+c.356-25G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95353817">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,26:53:99:742,0,768:127	0|0:98,0:98:99:0,294,3170:127	1|0:37,23:60:99:553,0,960:127
10	95360650	.	C	T	5805.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Retinol_dystrophy|_iris_coloboma|_and_comedogenic_acne_syndrome|_615147_(3);dbSNP139.ID=rs56401591;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56401591" target="_blank">rs56401591</a>;ExAC.Info.AC=21231;ExAC.Info.AN=124504;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=15727;ExAC.Info.AC_Hom=2072;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FFAR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+25G>A;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.112C>T;snpeff.Amino_Acid_length=201;snpeff.Gene_Name=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371464;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371467;SAVANT_GENE=RBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBP4" target="_blank">RBP4</a>;SAVANT_INFO=-/10.0kb/6/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.111+25G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBP4+c.111+25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95360650">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,43:74:99:1331,0,856:127	0|0:74,0:74:99:0,222,2865:127	1|0:31,30:61:99:994,0,973:127
10	95361588	.	C	T	1260.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3758539;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758539" target="_blank">rs3758539</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Diabetes|_type_2|_association_with;hgmd_2014.2.OMIM_ID=180250;hgmd_2014.2.PubMed=17006670;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17006670" target="_blank">17006670</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FFAR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FFAR4" target="_blank">FFAR4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FFAR4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95361588">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,10:30:99:259,0,591:104	0|0:35,0:35:99:0,105,1297:104	1|0:18,7:25:99:196,0,626:104
10	95372734	.	G	A	2069.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs1131978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131978" target="_blank">rs1131978</a>;ExAC.Info.AC=20849;ExAC.Info.AN=126698;ExAC.Info.AF=0.165;ExAC.Info.AC_Het=17312;ExAC.Info.AC_Hom=1800;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000081363;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:GAF_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.252G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.252G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.252G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu84Leu/c.252G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.252G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.252G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95372734">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081363" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1934:127	0|1:52,36:88:99:1053,0,1691:127	0|0:64,0:64:99:0,192,2406:127
10	95372764	.	C	T	2051.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs12781149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12781149" target="_blank">rs12781149</a>;ExAC.Info.AC=9820;ExAC.Info.AN=126700;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8896;ExAC.Info.AC_Hom=453;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000081364;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:GAF_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.282C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.282C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.282C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp94Asp/c.282C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.282C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.282C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95372764">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081364" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2636:127	0|1:56,41:97:99:1044,0,1729:127	0|0:69,0:69:99:0,207,2531:127
10	95381773	.	T	A	72590.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=993;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs701865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=701865" target="_blank">rs701865</a>;ExAC.Info.AC=47308;ExAC.Info.AN=126704;ExAC.Info.AF=0.373;ExAC.Info.AC_Het=29060;ExAC.Info.AC_Hom=9118;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808T>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808T>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808T>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808T>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808T>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808T>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808T>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Aca;snpeff.Amino_Acid_Change=p.Ser270Thr/c.808T>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.808T>A_p.Ser270Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.808T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95381773">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,296:296:99:9664,889,0:127	1|1:0,340:340:99:11688,1022,0:127	1|1:0,357:357:99:11988,1073,0:127
10	95388914	.	A	G	12821.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs2857300;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2857300" target="_blank">rs2857300</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1072-101A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1072-101A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.1072-101A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95388914">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1440,120,0:110	1|1:0,65:65:99:2230,195,0:110	1|1:0,37:37:99:1292,111,0:110
10	95389041	.	G	A	19680.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs714550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=714550" target="_blank">rs714550</a>;ExAC.Info.AC=44398;ExAC.Info.AN=126704;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=28262;ExAC.Info.AC_Hom=8063;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1098G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1098G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1098G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1098G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1098G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1098G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1098G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala366Ala/c.1098G>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1098G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.1098G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95389041">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2546,228,0:127	1|1:0,91:91:99:3204,273,0:127	1|1:0,64:64:99:2106,192,0:127
10	95389083	.	A	G	13413.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs714549;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=714549" target="_blank">rs714549</a>;ExAC.Info.AC=44641;ExAC.Info.AN=126704;ExAC.Info.AF=0.352;ExAC.Info.AC_Het=28354;ExAC.Info.AC_Hom=8131;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1119+21A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1120A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1120A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1120A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1120A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1120A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1120A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1120A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1119+21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.1119+21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95389083">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1653,135,0:127	1|1:0,61:61:99:2233,183,0:127	1|1:0,49:49:99:1684,147,0:127
10	95395245	.	C	T	9842.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=648;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs11187564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11187564" target="_blank">rs11187564</a>;ExAC.Info.AC=7749;ExAC.Info.AN=126704;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=7167;ExAC.Info.AC_Hom=282;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1270-9C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270C>T;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1270-9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.1270-9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95395245">View</a>	GT:AD:DP:GQ:PL:TP	0|0:196,0:196:99:0,602,9829:127	0|1:130,119:249:99:4940,0,5689:127	0|0:203,0:203:99:0,620,10298:127
10	95395247	.	A	G	9842.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=656;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs616522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=616522" target="_blank">rs616522</a>;ExAC.Info.AC=93558;ExAC.Info.AN=126704;ExAC.Info.AF=0.738;ExAC.Info.AC_Het=23795;ExAC.Info.AC_Hom=34804;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1270-7A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GAF_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1270A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1270-7A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.1270-7A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95395247">View</a>	GT:AD:DP:GQ:PL:TP	0|0:198,0:198:99:0,602,9829:127	0|1:132,125:257:99:4940,0,5689:127	0|0:201,0:201:99:0,620,10298:127
10	95395364	.	C	G	45857.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=762;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs3737228;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737228" target="_blank">rs3737228</a>;ExAC.Info.AC=33637;ExAC.Info.AN=126702;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=23990;ExAC.Info.AC_Hom=4814;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acG;snpeff.Amino_Acid_Change=p.Thr460Thr/c.1380C>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1380C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.1380C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95395364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,207:207:99:7181,622,0:127	1|0:177,145:322:99:3923,0,5228:127	1|1:0,233:233:99:8104,700,0:127
10	95405665	.	CTA	C	27962.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=459;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs3831275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3831275" target="_blank">rs3831275</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1848-51_1848-50delTA;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1848_1849delTA;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1848_1849delTA;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1848-50_1848-49delAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.1848-50_1848-49delAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95405665">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,72:134:99:2807,0,2492:127	1|1:0,181:181:99:8001,544,0:127	0|1:72,72:144:99:2783,0,2909:127
10	95405814	.	C	A	39039.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=926;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs1409332;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1409332" target="_blank">rs1409332</a>;ExAC.Info.AC=58179;ExAC.Info.AN=126650;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=30816;ExAC.Info.AC_Hom=13495;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1935+10C>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1935+10C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.1935+10C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95405814">View</a>	GT:AD:DP:GQ:PL:TP	0|1:150,139:289:99:3599,0,4293:127	1|1:1,354:355:99:11606,1029,0:127	0|1:149,133:282:99:3715,0,4176:127
10	95419032	.	C	A	4954.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs720298;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=720298" target="_blank">rs720298</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2208+108C>A;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2208+108C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.2208+108C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95419032">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,54:94:99:1526,0,1229:127	0|0:115,0:115:99:0,346,4282:127	1|0:50,39:89:99:1091,0,1585:127
10	95422245	.	A	G	7358.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cone_dystrophy_4|_613093_(3);dbSNP139.ID=rs10882298;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10882298" target="_blank">rs10882298</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2284-72A>G;snpeff.Amino_Acid_length=858;snpeff.Gene_Name=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371447;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371447;SAVANT_GENE=PDE6C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C" target="_blank">PDE6C</a>;SAVANT_INFO=+/53.4kb/22/3.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2284-72A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE6C+c.2284-72A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95422245">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,25:46:99:783,0,591:110	1|1:2,52:54:99:1949,111,0:110	0|1:18,28:46:99:965,0,516:110
10	95432968	.	T	C	28194.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=324;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1572773;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1572773" target="_blank">rs1572773</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.827-2363A>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359204;SAVANT_GENE=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;SAVANT_INFO=-/34.7kb/14/3.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.827-2363A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRA10AC1+c.827-2363A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95432968">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3714,292,0:127	1|1:0,120:120:99:4590,361,0:127	1|1:0,107:107:99:3930,321,0:127
10	95433124	.	A	G	31680.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=670;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1326214;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1326214" target="_blank">rs1326214</a>;ExAC.Info.AC=10776;ExAC.Info.AN=18834;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=3576;ExAC.Info.AC_Hom=3011;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.827-2519T>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359204;SAVANT_GENE=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;SAVANT_INFO=-/34.7kb/14/3.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.827-2519T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRA10AC1+c.827-2519T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95433124">View</a>	GT:AD:DP:GQ:PL:TP	0|1:106,114:220:99:3198,0,2892:127	1|1:0,239:239:99:8526,717,0:127	0|1:113,98:211:99:2716,0,3327:127
10	95443688	.	C	G	6607.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs8181435;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8181435" target="_blank">rs8181435</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.668+125G>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.669C>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.669C>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.669C>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.669C>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.669C>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.669C>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359204;SAVANT_GENE=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;SAVANT_INFO=-/34.7kb/14/3.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.668+125G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRA10AC1+c.668+125G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95443688">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,19:37:99:535,0,615:127	1|1:0,54:54:99:1935,162,0:127	0|1:26,11:37:99:335,0,826:127
10	95454681	.	G	C	12028.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275438" target="_blank">rs2275438</a>;ExAC.Info.AC=60037;ExAC.Info.AN=126694;ExAC.Info.AF=0.474;ExAC.Info.AC_Het=29845;ExAC.Info.AC_Hom=15082;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCa/aGa;snpeff.Amino_Acid_Change=p.Thr78Arg/c.233C>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359204;SAVANT_GENE=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;SAVANT_INFO=-/34.7kb/14/3.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.233C>G_p.Thr78Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRA10AC1+c.233C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95454681">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,28:63:99:897,0,1094:127	1|1:0,87:87:99:3319,262,0:127	0|1:46,43:89:99:1323,0,1330:127
10	95458141	.	A	G	21735.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=443;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs11187597;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11187597" target="_blank">rs11187597</a>;ExAC.Info.AC=60040;ExAC.Info.AN=126698;ExAC.Info.AF=0.474;ExAC.Info.AC_Het=29837;ExAC.Info.AC_Hom=15071;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp30Asp/c.90T>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359204;SAVANT_GENE=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;SAVANT_INFO=-/34.7kb/14/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.90T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRA10AC1+c.90T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95458141">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,60:130:99:1801,0,1901:127	1|1:0,173:173:99:6218,520,0:127	0|1:66,74:140:99:2182,0,1754:127
10	95459817	.	C	T	25461.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=370;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs726817;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=726817" target="_blank">rs726817</a>;ExAC.Info.AC=88418;ExAC.Info.AN=126692;ExAC.Info.AF=0.698;ExAC.Info.AC_Het=25753;ExAC.Info.AC_Hom=31229;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg16His/c.47G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359204;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359204;SAVANT_GENE=FRA10AC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRA10AC1" target="_blank">FRA10AC1</a>;SAVANT_INFO=-/34.7kb/14/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.47G>A_p.Arg16His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FRA10AC1+c.47G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95459817">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3446,338,0:127	1|1:0,149:149:99:4822,446,0:127	1|1:1,107:108:99:3498,314,0:127
10	95549836	.	C	CT	6560.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;OMIM_phenotypes.name=Epilepsy|_familial_temporal_lobe|_1|_600512_(3);dbSNP139.ID=rs61662431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61662431" target="_blank">rs61662431</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.432-19_432-18insT;snpeff.Amino_Acid_length=557;snpeff.Gene_Name=LGI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI1" target="_blank">LGI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371418;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432_433insT;snpeff.Amino_Acid_length=557;snpeff.Gene_Name=LGI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI1" target="_blank">LGI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371418;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432_433insT;snpeff.Amino_Acid_length=557;snpeff.Gene_Name=LGI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI1" target="_blank">LGI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371418;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371418;SAVANT_GENE=LGI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI1" target="_blank">LGI1</a>;SAVANT_INFO=+/40.3kb/8/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.432-5dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGI1+c.432-5dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95549836">View</a>	GT:AD:DP:GQ:PL	./1:3,15:51:99:1507,669,552	./1:7,22:55:99:1335,458,430	./1:5,16:33:99:673,168,163
10	95549836	.	C	CTT	6560.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;OMIM_phenotypes.name=Epilepsy|_familial_temporal_lobe|_1|_600512_(3);dbSNP139.ID=rs368174638;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=368174638" target="_blank">rs368174638</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.432-19_432-18insTT;snpeff.Amino_Acid_length=557;snpeff.Gene_Name=LGI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI1" target="_blank">LGI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371418;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432_433insTT;snpeff.Amino_Acid_length=557;snpeff.Gene_Name=LGI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI1" target="_blank">LGI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371418;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.432_433insTT;snpeff.Amino_Acid_length=557;snpeff.Gene_Name=LGI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI1" target="_blank">LGI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371418;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371418;SAVANT_GENE=LGI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI1" target="_blank">LGI1</a>;SAVANT_INFO=+/40.3kb/8/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.432-6_432-5dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGI1+c.432-6_432-5dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95549836">View</a>	GT:AD:DP:GQ:PL	./1:3,33:51:99:1507,298,240	./1:7,26:55:99:1335,344,430	./1:5,12:33:99:673,253,351
10	95552653	.	T	C	26326.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epilepsy|_familial_temporal_lobe|_1|_600512_(3);dbSNP139.ID=rs1111820;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1111820" target="_blank">rs1111820</a>;ExAC.Info.AC=125810;ExAC.Info.AN=126704;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=852;ExAC.Info.AC_Hom=62469;snpeff.Effect=sequence_feature[domain:LRRCT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.657T>C;snpeff.Amino_Acid_length=557;snpeff.Gene_Name=LGI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI1" target="_blank">LGI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371418;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe219Phe/c.657T>C;snpeff.Amino_Acid_length=557;snpeff.Gene_Name=LGI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI1" target="_blank">LGI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371418;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371418;SAVANT_GENE=LGI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI1" target="_blank">LGI1</a>;SAVANT_INFO=+/40.3kb/8/2.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.657T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGI1+c.657T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95552653">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,99:99:99:3272,297,0:127	1|1:0,132:132:99:4579,397,0:127	1|1:0,107:107:99:3600,322,0:127
10	95718474	.	A	G	16684.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=198;MQ=69.61;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs829225;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=829225" target="_blank">rs829225</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2824T>C;snpeff.Gene_Name=PIPSL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIPSL" target="_blank">PIPSL</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000480546;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIPSL" target="_blank">PIPSL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIPSL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95718474">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1731,153,0:127	1|1:0,67:67:99:2449,201,0:127	1|1:0,80:80:99:2666,240,0:127
10	95718600	.	T	C	5604.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=294;MQ=68.28;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11815169;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11815169" target="_blank">rs11815169</a>;ExAC.Info.AC=31712;ExAC.Info.AN=126694;ExAC.Info.AF=0.250;ExAC.Info.AC_Het=23428;ExAC.Info.AC_Hom=4116;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2698A>G;snpeff.Gene_Name=PIPSL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIPSL" target="_blank">PIPSL</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000480546;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIPSL" target="_blank">PIPSL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIPSL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95718600">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,301,3519:127	0|1:44,54:98:99:1617,0,1290:127	0|1:54,42:96:99:1202,0,1660:127
10	95720490	.	C	T	11559.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=432;MQ=69.90;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12570608;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12570608" target="_blank">rs12570608</a>;ExAC.Info.AC=27237;ExAC.Info.AN=126704;ExAC.Info.AF=0.215;ExAC.Info.AC_Het=20748;ExAC.Info.AC_Hom=3229;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.808G>A;snpeff.Gene_Name=PIPSL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIPSL" target="_blank">PIPSL</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000480546;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIPSL" target="_blank">PIPSL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIPSL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95720490">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,379,6660:127	0|1:94,82:176:99:3180,0,4572:127	0|1:62,68:130:99:2620,0,2925:127
10	95720501	.	T	C	11108.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=444;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs12571819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12571819" target="_blank">rs12571819</a>;ExAC.Info.AC=27757;ExAC.Info.AN=126704;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=21175;ExAC.Info.AC_Hom=3272;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.797A>G;snpeff.Gene_Name=PIPSL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIPSL" target="_blank">PIPSL</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000480546;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIPSL" target="_blank">PIPSL</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIPSL+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95720501">View</a>	GT:AD:DP:GQ:PL:TP	0|0:134,0:134:99:0,403,6937:127	0|1:105,81:186:99:3097,0,4922:127	0|1:62,62:124:99:2477,0,2884:127
10	95790669	.	G	A	4354.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=451;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Nephrotic_syndrome|_type_3|_610725_(3)|Nephrotic_syndrome|_type_3|_610725_(3);dbSNP139.ID=rs10882386;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10882386" target="_blank">rs10882386</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=135;snpeff.Amino_Acid_Change=c.-135G>A;snpeff.Amino_Acid_length=2302;snpeff.Gene_Name=PLCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCE1" target="_blank">PLCE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260766;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260766;SAVANT_GENE=PLCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCE1" target="_blank">PLCE1</a>;SAVANT_INFO=+/334.4kb/33/8.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-135G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCE1+c.-135G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95790669">View</a>	GT:AD:DP:GQ:PL:TP	0|0:146,0:146:99:0,438,5083:127	0|0:158,0:158:99:0,475,5639:127	0|1:69,78:147:99:2196,0,1905:127
10	95791613	.	T	C	3934.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=470;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Nephrotic_syndrome|_type_3|_610725_(3)|Nephrotic_syndrome|_type_3|_610725_(3);dbSNP139.ID=rs17109671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17109671" target="_blank">rs17109671</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=39877;ExAC.Info.AN=125188;ExAC.Info.AF=0.319;ExAC.Info.AC_Het=24873;ExAC.Info.AC_Hom=7483;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys270Cys/c.810T>C;snpeff.Amino_Acid_length=2302;snpeff.Gene_Name=PLCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCE1" target="_blank">PLCE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260766;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260766;SAVANT_GENE=PLCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCE1" target="_blank">PLCE1</a>;SAVANT_INFO=+/334.4kb/33/8.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.810T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCE1+c.810T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95791613">View</a>	GT:AD:DP:GQ:PL:TP	0|0:127,0:127:99:0,382,4349:127	0|0:197,1:198:99:0,560,6903:127	0|1:80,65:145:99:1986,0,2362:127
10	95791763	.	G	A	4690.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=488;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Nephrotic_syndrome|_type_3|_610725_(3)|Nephrotic_syndrome|_type_3|_610725_(3);dbSNP139.ID=rs17109674;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17109674" target="_blank">rs17109674</a>;ExAC.Info.AC=35739;ExAC.Info.AN=125152;ExAC.Info.AF=0.286;ExAC.Info.AC_Het=24443;ExAC.Info.AC_Hom=5636;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu320Glu/c.960G>A;snpeff.Amino_Acid_length=2302;snpeff.Gene_Name=PLCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCE1" target="_blank">PLCE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260766;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260766;SAVANT_GENE=PLCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCE1" target="_blank">PLCE1</a>;SAVANT_INFO=+/334.4kb/33/8.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.960G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCE1+c.960G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95791763">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,385,4819:127	0|0:206,0:206:99:0,619,7330:127	0|1:75,79:154:99:2364,0,2423:127
10	95987313	.	C	T	30291.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=668;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephrotic_syndrome|_type_3|_610725_(3)|Nephrotic_syndrome|_type_3|_610725_(3);dbSNP139.ID=rs11187825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11187825" target="_blank">rs11187825</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1955+105C>T;snpeff.Amino_Acid_length=2302;snpeff.Gene_Name=PLCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCE1" target="_blank">PLCE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260766;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260766;SAVANT_GENE=PLCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCE1" target="_blank">PLCE1</a>;SAVANT_INFO=+/334.4kb/33/8.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1955+105C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCE1+c.1955+105C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:95987313">View</a>	GT:AD:DP:GQ:PL:TP	0|1:114,102:216:99:2867,0,3319:127	1|1:0,237:237:99:8387,712,0:127	0|1:114,101:215:99:2983,0,3451:127
10	96044734	.	C	A	8286.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=590;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Nephrotic_syndrome|_type_3|_610725_(3)|Nephrotic_syndrome|_type_3|_610725_(3);dbSNP139.ID=rs3736901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736901" target="_blank">rs3736901</a>;ExAC.Info.AC=43249;ExAC.Info.AN=125060;ExAC.Info.AF=0.346;ExAC.Info.AC_Het=25981;ExAC.Info.AC_Hom=8358;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5035+12C>A;snpeff.Amino_Acid_length=2302;snpeff.Gene_Name=PLCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCE1" target="_blank">PLCE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260766;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.231-1491G>T;snpeff.Gene_Name=PLCE1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCE1" target="_blank">PLCE1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000596633;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260766;SAVANT_GENE=PLCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLCE1" target="_blank">PLCE1</a>;SAVANT_INFO=+/334.4kb/33/8.0kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.5035+12C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLCE1+c.5035+12C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96044734">View</a>	GT:AD:DP:GQ:PL:TP	1|0:85,86:171:99:2302,0,2377:127	0|0:253,0:253:99:0,760,9207:127	1|0:92,74:166:99:1975,0,2745:127
10	96100270	.	G	C	722.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=48;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72814643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72814643" target="_blank">rs72814643</a>;ExAC.Info.AC=1930;ExAC.Info.AN=126190;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1933;ExAC.Info.AC_Hom=18;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1645-17C>G;snpeff.Amino_Acid_length=800;snpeff.Gene_Name=NOC3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC3L" target="_blank">NOC3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371350;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371361;SAVANT_GENE=NOC3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC3L" target="_blank">NOC3L</a>;SAVANT_INFO=-/29.7kb/21/3.5kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1645-17C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOC3L+c.1645-17C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96100270">View</a>	GT:AD:DP:GQ:PL:TP	0|0:13,0:13:39:0,39,460:38	0|1:6,14:20:99:379,0,146:38	0|0:15,0:15:45:0,45,533:38
10	96104665	.	T	G	15714.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3758526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758526" target="_blank">rs3758526</a>;ExAC.Info.AC=20305;ExAC.Info.AN=126692;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=16203;ExAC.Info.AC_Hom=2038;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gCg;snpeff.Amino_Acid_Change=p.Glu472Ala/c.1415A>C;snpeff.Amino_Acid_length=800;snpeff.Gene_Name=NOC3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC3L" target="_blank">NOC3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371350;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371361;SAVANT_GENE=NOC3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC3L" target="_blank">NOC3L</a>;SAVANT_INFO=-/29.7kb/21/3.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1415A>C_p.Glu472Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOC3L+c.1415A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96104665">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,68:142:99:1794,0,1884:127	1|1:0,142:142:99:4940,426,0:127	0|0:168,0:168:99:0,505,5585:127
10	96114835	.	G	A	3536.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12572897;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12572897" target="_blank">rs12572897</a>;ExAC.Info.AC=20221;ExAC.Info.AN=126690;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=16157;ExAC.Info.AC_Hom=2026;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro194Leu/c.581C>T;snpeff.Amino_Acid_length=800;snpeff.Gene_Name=NOC3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC3L" target="_blank">NOC3L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371350;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371361;SAVANT_GENE=NOC3L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOC3L" target="_blank">NOC3L</a>;SAVANT_INFO=-/29.7kb/21/3.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.581C>T_p.Pro194Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NOC3L+c.581C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96114835">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,16:33:99:440,0,421:107	1|1:0,36:36:99:1325,108,0:107	0|0:46,0:46:99:0,138,1561:107
10	96163039	.	C	G	3564.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=59;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2477534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2477534" target="_blank">rs2477534</a>;ExAC.Info.AC=41814;ExAC.Info.AN=76986;ExAC.Info.AF=0.543;ExAC.Info.AC_Het=2235;ExAC.Info.AC_Hom=2444;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro223Pro/c.669C>G;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=TBC1D12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D12" target="_blank">TBC1D12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000225235;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000225235;SAVANT_GENE=TBC1D12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D12" target="_blank">TBC1D12</a>;SAVANT_INFO=+/133.4kb/13/5.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.669C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TBC1D12+c.669C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96163039">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,5:15:99:145,0,334:69	1|1:0,23:23:69:847,69,0:69	0|1:12,9:21:99:279,0,384:69
10	96271298	.	A	C	11614.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2860761;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2860761" target="_blank">rs2860761</a>;ExAC.Info.AC=124826;ExAC.Info.AN=125096;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=267;ExAC.Info.AC_Hom=62249;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1690-42A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=TBC1D12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D12" target="_blank">TBC1D12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000225235;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=TBC1D12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D12" target="_blank">TBC1D12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000225235;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=TBC1D12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D12" target="_blank">TBC1D12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000225235;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=TBC1D12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D12" target="_blank">TBC1D12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000225235;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=TBC1D12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D12" target="_blank">TBC1D12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000225235;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=TBC1D12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D12" target="_blank">TBC1D12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000225235;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=TBC1D12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D12" target="_blank">TBC1D12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000225235;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rab-GAP_TBC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1690A>C;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=TBC1D12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D12" target="_blank">TBC1D12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000225235;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000225235;SAVANT_GENE=TBC1D12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D12" target="_blank">TBC1D12</a>;SAVANT_INFO=+/133.4kb/13/5.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1690-42A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TBC1D12+c.1690-42A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96271298">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1370,111,0:127	1|1:0,48:48:99:1782,144,0:127	1|1:0,62:62:99:2309,186,0:127
10	96305729	.	T	C	8570.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10882474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10882474" target="_blank">rs10882474</a>;ExAC.Info.AC=38599;ExAC.Info.AN=101486;ExAC.Info.AF=0.380;ExAC.Info.AC_Het=6777;ExAC.Info.AC_Hom=3739;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.31+20T>C;snpeff.Amino_Acid_length=884;snpeff.Gene_Name=HELLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HELLS" target="_blank">HELLS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371332;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348459;SAVANT_GENE=HELLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HELLS" target="_blank">HELLS</a>;SAVANT_INFO=+/56.3kb/22/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.31+20T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HELLS+c.31+20T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96305729">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,18:54:99:405,0,1135:127	1|1:0,65:65:99:2222,195,0:127	0|1:27,27:54:99:747,0,800:127
10	96313960	.	A	C	8547.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs11188019;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11188019" target="_blank">rs11188019</a>;ExAC.Info.AC=59346;ExAC.Info.AN=126696;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=30156;ExAC.Info.AC_Hom=14567;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atA/atC;snpeff.Amino_Acid_Change=p.Ile77Ile/c.231A>C;snpeff.Amino_Acid_length=884;snpeff.Gene_Name=HELLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HELLS" target="_blank">HELLS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371332;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348459;SAVANT_GENE=HELLS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HELLS" target="_blank">HELLS</a>;SAVANT_INFO=+/56.3kb/22/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.231A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HELLS+c.231A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96313960">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,20:46:99:577,0,642:127	1|1:0,66:66:99:2371,198,0:127	0|1:23,31:54:99:996,0,669:127
10	96405502	.	G	A	22217.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=666;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12777823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12777823" target="_blank">rs12777823</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12777823" target="_blank">rs12777823</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96405502">View</a>	GT:AD:DP:GQ:PL:TP	0|1:106,68:174:99:1801,0,3051:127	1|1:0,244:244:99:8139,733,0:127	0|0:248,0:248:99:0,744,8045:127
10	96493058	.	C	T	32849.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=972;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1126545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1126545" target="_blank">rs1126545</a>;ExAC.Info.AC=23185;ExAC.Info.AN=126674;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=18116;ExAC.Info.AC_Hom=2523;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr385Met/c.1154C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000285979;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000285979;SAVANT_GENE=CYP2C18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C18" target="_blank">CYP2C18</a>;SAVANT_INFO=+/52.6kb/9/2.4kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1154C>T_p.Thr385Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C18+c.1154C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96493058">View</a>	GT:AD:DP:GQ:PL:TP	0|1:151,129:280:99:3355,0,4385:127	1|1:2,361:363:99:12230,1041,0:127	0|0:329,0:329:99:0,988,11115:127
10	96495232	.	C	T	20044.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1023;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2860840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2860840" target="_blank">rs2860840</a>;ExAC.Info.AC=41329;ExAC.Info.AN=126638;ExAC.Info.AF=0.326;ExAC.Info.AC_Het=25649;ExAC.Info.AC_Hom=7777;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=31;snpeff.Amino_Acid_Change=c.*31C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000285979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000285979;SAVANT_GENE=CYP2C18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C18" target="_blank">CYP2C18</a>;SAVANT_INFO=+/52.6kb/9/2.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*31C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C18+c.*31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96495232">View</a>	GT:AD:DP:GQ:PL:TP	1|0:173,159:332:99:4663,0,5483:127	0|0:380,0:380:99:0,1143,14483:127	1|0:163,148:311:99:4459,0,5214:127
10	96495284	.	G	A	32603.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=834;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1042192;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1042192" target="_blank">rs1042192</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=83;snpeff.Amino_Acid_Change=c.*83G>A;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000285979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000285979;SAVANT_GENE=CYP2C18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C18" target="_blank">CYP2C18</a>;SAVANT_INFO=+/52.6kb/9/2.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*83G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C18+c.*83G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96495284">View</a>	GT:AD:DP:GQ:PL:TP	0|1:111,148:259:99:4070,0,3271:127	1|1:1,335:336:99:11517,971,0:127	0|0:238,1:239:99:0,681,8739:127
10	96534922	.	G	C	11122.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Mephenytoin_poor_metabolizer|_609535_(3)|_Opremazole_poor_metabolizer|_609535_(3)|_Proguanil_poor_metabolizer|_609535_(3)|_Clopidogrel|_impaired_responsiveness_to|_609535_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17878459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17878459" target="_blank">rs17878459</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Poor_metaboliser;hgmd_2014.2.OMIM_ID=124020;hgmd_2014.2.PubMed=9732415;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=9732415" target="_blank">9732415</a>;ExAC.Info.AC=3002;ExAC.Info.AN=126704;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=2900;ExAC.Info.AC_Hom=51;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276G>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371321;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu92Asp/c.276G>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371321;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371321;SAVANT_GENE=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;SAVANT_INFO=+/90.6kb/9/1.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.276G>C_p.Glu92Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C19+c.276G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96534922">View</a>	GT:AD:DP:GQ:PL:TP	0|0:399,0:399:99:0,1199,13934:127	0|1:228,194:422:99:5600,0,7314:127	0|0:395,0:395:99:0,1187,14587:127
10	96541616	.	G	A	37672.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;PGx_variants.name=PGX_variant;OMIM_phenotypes.name=Mephenytoin_poor_metabolizer|_609535_(3)|_Opremazole_poor_metabolizer|_609535_(3)|_Proguanil_poor_metabolizer|_609535_(3)|_Clopidogrel|_impaired_responsiveness_to|_609535_(3);dbSNP139.ID=rs4244285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4244285" target="_blank">rs4244285</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Poor_metaboliser;hgmd_2014.2.OMIM_ID=124020;hgmd_2014.2.PubMed=8195181;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=8195181" target="_blank">8195181</a>;ExAC.Info.AC=23214;ExAC.Info.AN=126608;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=18017;ExAC.Info.AC_Hom=2539;Clinvar.ClinicalSignificance=drug_response;Clinvar.RCVaccession=RCV000018393|RCV000018394|RCV000018395;Clinvar.PhenotypeIDs=MedGen:C1836024|MedGen:C1836026|MedGen:C2674941;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro227Pro/c.681G>A;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371321;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371321;SAVANT_GENE=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;SAVANT_INFO=+/90.6kb/9/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.681G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C19+c.681G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96541616">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018393%20OR%20RCV000018394%20OR%20RCV000018395" target="_blank">drug_response</a> 	GT:AD:DP:GQ:PL:TP	0|1:205,182:387:99:4826,0,5683:127	1|1:1,410:411:99:14134,1199,0:127	0|0:429,0:429:99:0,1288,13897:127
10	96602622	.	C	T	28572.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=759;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Mephenytoin_poor_metabolizer|_609535_(3)|_Opremazole_poor_metabolizer|_609535_(3)|_Proguanil_poor_metabolizer|_609535_(3)|_Clopidogrel|_impaired_responsiveness_to|_609535_(3);dbSNP139.ID=rs3758580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758580" target="_blank">rs3758580</a>;ExAC.Info.AC=23244;ExAC.Info.AN=126704;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=18160;ExAC.Info.AC_Hom=2540;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371321;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371321;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val330Val/c.990C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371321;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371321;SAVANT_GENE=CYP2C19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C19" target="_blank">CYP2C19</a>;SAVANT_INFO=+/90.6kb/9/1.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.990C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C19+c.990C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96602622">View</a>	GT:AD:DP:GQ:PL:TP	0|1:107,126:233:99:3549,0,3115:127	1|1:0,275:275:99:9640,826,0:127	0|0:251,0:251:99:0,755,8906:127
10	96695351	.	G	A	21849.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=716;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12782374;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12782374" target="_blank">rs12782374</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12782374" target="_blank">rs12782374</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96695351">View</a>	GT:AD:DP:GQ:PL:TP	0|1:129,94:223:99:2501,0,3745:127	1|1:0,223:223:99:7526,670,0:127	0|0:268,2:270:99:0,762,8840:127
10	96695774	.	CTG	C	37791.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=941;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs146705863;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146705863" target="_blank">rs146705863</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146705863" target="_blank">rs146705863</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96695774">View</a>	GT:AD:DP:GQ:PL:TP	0|1:181,120:301:99:4489,0,7173:127	1|1:1,292:293:99:12804,836,0:127	0|0:347,0:347:99:0,1044,15577:127
10	96701601	.	G	C	23306.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Tolbutamide_poor_metabolizer_(3)|_Warfarin_sensitivity|_122700_(3);dbSNP139.ID=rs9332119;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9332119" target="_blank">rs9332119</a>;ExAC.Info.AC=12015;ExAC.Info.AN=126696;ExAC.Info.AF=0.095;ExAC.Info.AC_Het=10561;ExAC.Info.AC_Hom=726;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.169-14G>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.169G>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.169G>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260682;SAVANT_GENE=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;SAVANT_INFO=+/50.7kb/9/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.169-14G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C9+c.169-14G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96701601">View</a>	GT:AD:DP:GQ:PL:TP	1|0:182,181:363:99:5159,0,5828:127	0|0:401,0:401:99:0,1203,15055:127	1|0:207,175:382:99:5484,0,6294:127
10	96702047	.	C	T	17270.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=862;MQ=67.59;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;PGx_variants.name=PGX_variant;OMIM_phenotypes.name=Tolbutamide_poor_metabolizer_(3)|_Warfarin_sensitivity|_122700_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1799853;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799853" target="_blank">rs1799853</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Poor_metaboliser;hgmd_2014.2.OMIM_ID=601130;hgmd_2014.2.PubMed=9241660;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=9241660" target="_blank">9241660</a>;ExAC.Info.AC=11608;ExAC.Info.AN=126694;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=10236;ExAC.Info.AC_Hom=685;Clinvar.ClinicalSignificance=confers_sensitivity;Clinvar.RCVaccession=RCV000008920;Clinvar.PhenotypeIDs=MedGen:CN078029|OMIM:122700;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg144Cys/c.430C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260682;SAVANT_GENE=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;SAVANT_INFO=+/50.7kb/9/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.430C>T_p.Arg144Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C9+c.430C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96702047">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008920" target="_blank">confers_sensitivity</a> 	GT:AD:DP:GQ:PL:TP	1|0:133,124:257:99:3422,0,3744:127	0|0:350,2:352:99:0,1008,11907:127	1|0:117,136:253:99:4108,0,3403:127
10	96707202	.	C	T	26001.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1399;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Tolbutamide_poor_metabolizer_(3)|_Warfarin_sensitivity|_122700_(3);dbSNP139.ID=rs4086116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4086116" target="_blank">rs4086116</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.482-334C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.482C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.482C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260682;SAVANT_GENE=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;SAVANT_INFO=+/50.7kb/9/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.482-334C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C9+c.482-334C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96707202">View</a>	GT:AD:DP:GQ:PL:TP	1|0:215,215:430:99:5649,0,5948:127	0|0:503,1:504:99:0,1475,17423:127	1|0:209,256:465:99:7192,0,5646:127
10	96725535	.	A	C	11955.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=658;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Tolbutamide_poor_metabolizer_(3)|_Warfarin_sensitivity|_122700_(3);dbSNP139.ID=rs4917639;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4917639" target="_blank">rs4917639</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.820-6326A>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.820A>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260682;SAVANT_GENE=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;SAVANT_INFO=+/50.7kb/9/1.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.820-6326A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C9+c.820-6326A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96725535">View</a>	GT:AD:DP:GQ:PL:TP	1|0:116,105:221:99:2897,0,2866:127	0|0:239,0:239:99:0,718,7936:127	1|0:103,95:198:99:2696,0,2867:127
10	96734292	.	G	GTTTT	1041.96	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=62;MQ=70.06;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Tolbutamide_poor_metabolizer_(3)|_Warfarin_sensitivity|_122700_(3);dbSNP139.ID=rs33968005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33968005" target="_blank">rs33968005</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.961+2291_961+2292insTTTT;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.962_963insTTTT;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.962_963insTTTT;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000260682;SAVANT_GENE=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;SAVANT_INFO=+/50.7kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.961+2299_961+2302dupTTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C9+c.961+2299_961+2302dupTTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96734292">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,6:21:99:199,0,601:17	1|1:1,10:11:17:378,17,0:17	0|0:29,1:30:70:0,70,1252:17
10	96734294	.	T	TTTG	2752.99	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=71;MQ=70.06;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Tolbutamide_poor_metabolizer_(3)|_Warfarin_sensitivity|_122700_(3);dbSNP139.ID=rs201022858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201022858" target="_blank">rs201022858</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.961+2293_961+2294insTTG;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.962_963insTTG;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.962_963insTTG;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000260682;SAVANT_GENE=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;SAVANT_INFO=+/50.7kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.961+2294_961+2295insGTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C9+c.961+2294_961+2295insGTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96734294">View</a>	GT:AD:DP:GQ:PL:TP	1|0:7,15:22:99:353,0,238:27	0|0:18,0:18:54:0,54,637:27	1|0:3,28:31:27:726,0,27:27
10	96748492	.	G	A	13110.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=674;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Tolbutamide_poor_metabolizer_(3)|_Warfarin_sensitivity|_122700_(3);dbSNP139.ID=rs9332238;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9332238" target="_blank">rs9332238</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1292-112G>A;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1292G>A;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1292G>A;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260682;SAVANT_GENE=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;SAVANT_INFO=+/50.7kb/9/1.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1292-112G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C9+c.1292-112G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96748492">View</a>	GT:AD:DP:GQ:PL:TP	1|0:99,122:221:99:3551,0,2734:127	0|0:252,0:252:99:0,757,8938:127	1|0:104,97:201:99:2840,0,5096:127
10	96748495	.	A	T	48037.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=688;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Tolbutamide_poor_metabolizer_(3)|_Warfarin_sensitivity|_122700_(3);dbSNP139.ID=rs1934969;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1934969" target="_blank">rs1934969</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1292-109A>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1292A>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1292A>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260682;SAVANT_GENE=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;SAVANT_INFO=+/50.7kb/9/1.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1292-109A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C9+c.1292-109A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96748495">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,221:222:99:8880,642,0:127	1|1:0,260:260:99:9349,782,0:127	1|0:105,101:206:99:3879,0,2923:127
10	96748893	.	C	G	10107.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=552;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Tolbutamide_poor_metabolizer_(3)|_Warfarin_sensitivity|_122700_(3);dbSNP139.ID=rs9332242;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9332242" target="_blank">rs9332242</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=108;snpeff.Amino_Acid_Change=c.*108C>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260682;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260682;SAVANT_GENE=CYP2C9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C9" target="_blank">CYP2C9</a>;SAVANT_INFO=+/50.7kb/9/1.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*108C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C9+c.*108C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96748893">View</a>	GT:AD:DP:GQ:PL:TP	1|0:83,87:170:99:2493,0,2598:127	0|0:228,0:228:99:0,685,8451:127	1|0:89,65:154:99:1996,0,2891:127
10	96796861	.	G	A	29732.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=820;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbSNP139.ID=rs1058932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1058932" target="_blank">rs1058932</a>;ExAC.Info.AC=29024;ExAC.Info.AN=126702;ExAC.Info.AF=0.229;ExAC.Info.AC_Het=21351;ExAC.Info.AC_Hom=3792;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=24;snpeff.Amino_Acid_Change=c.*24C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*24C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.*24C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96796861">View</a>	GT:AD:DP:GQ:PL:TP	0|1:137,116:253:99:3411,0,3929:127	1|1:0,296:296:99:10762,889,0:127	0|0:271,0:271:99:0,815,9580:127
10	96798548	.	C	T	18326.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=562;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbSNP139.ID=rs1934951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1934951" target="_blank">rs1934951</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1291+106G>A;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1292C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1292C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1291+106G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.1291+106G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96798548">View</a>	GT:AD:DP:GQ:PL:TP	0|1:102,75:177:99:1803,0,3066:127	1|1:2,194:196:99:6598,540,0:127	0|0:189,0:189:99:0,568,6568:127
10	96798749	.	T	C	13243.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=592;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10509681;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10509681" target="_blank">rs10509681</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Poor_paclitaxel_metabolism;hgmd_2014.2.OMIM_ID=601129;hgmd_2014.2.PubMed=11767116;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11767116" target="_blank">11767116</a>;ExAC.Info.AC=10503;ExAC.Info.AN=126700;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=9357;ExAC.Info.AC_Hom=573;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1196T>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys399Arg/c.1196A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1196A>G_p.Lys399Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.1196A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96798749">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,90:166:99:2752,0,1971:127	0|0:224,0:224:99:0,673,7636:127	1|0:90,112:202:99:3301,0,2523:127
10	96802598	.	A	T	64070.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=1069;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbSNP139.ID=rs2275620;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275620" target="_blank">rs2275620</a>;ExAC.Info.AC=74568;ExAC.Info.AN=126704;ExAC.Info.AF=0.589;ExAC.Info.AC_Het=29071;ExAC.Info.AC_Hom=22710;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1149+49T>A;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1149+49T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.1149+49T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96802598">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,348:348:99:11935,1046,0:127	1|1:0,377:377:99:13226,1133,0:127	1|0:163,181:344:99:5213,0,4607:127
10	96811010	.	T	C	25971.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=462;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbSNP139.ID=rs1579029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1579029" target="_blank">rs1579029</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.820-5302A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.820-5302A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.820-5302A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96811010">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:4860,455,0:127	1|1:0,164:164:99:5421,493,0:127	1|0:86,60:146:99:1692,0,2421:127
10	96811045	.	G	C	12582.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbSNP139.ID=rs1113129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1113129" target="_blank">rs1113129</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.820-5337C>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.820-5337C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.820-5337C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96811045">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,59:126:99:1662,0,2009:127	1|1:0,132:132:99:4469,397,0:127	0|0:116,0:116:99:0,349,4089:127
10	96818119	.	G	C	6414.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=681;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1058930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1058930" target="_blank">rs1058930</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Coronary_heart_disease|_increased_risk_in_smokers|_association;hgmd_2014.2.OMIM_ID=601129;hgmd_2014.2.PubMed=17429317;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17429317" target="_blank">17429317</a>;ExAC.Info.AC=4904;ExAC.Info.AN=126688;ExAC.Info.AF=0.039;ExAC.Info.AC_Het=4689;ExAC.Info.AC_Hom=114;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.792G>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atC/atG;snpeff.Amino_Acid_Change=p.Ile264Met/c.792C>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.792C>G_p.Ile264Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.792C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96818119">View</a>	GT:AD:DP:GQ:PL:TP	0|0:196,0:196:99:0,589,6405:127	0|1:142,114:256:99:3226,0,4027:127	0|0:229,0:229:99:0,688,7813:127
10	96824883	.	T	C	27534.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=481;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbSNP139.ID=rs3752988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3752988" target="_blank">rs3752988</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.482-166A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.482T>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.482T>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.482-166A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.482-166A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96824883">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,139:139:99:4827,418,0:127	1|1:0,180:180:99:6399,541,0:127	1|0:74,88:162:99:2514,0,2025:127
10	96827030	.	C	T	13258.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=673;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11572080;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11572080" target="_blank">rs11572080</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Poor_paclitaxel_metabolism;hgmd_2014.2.OMIM_ID=601129;hgmd_2014.2.PubMed=11767116;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11767116" target="_blank">11767116</a>;ExAC.Info.AC=10497;ExAC.Info.AN=126704;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=9350;ExAC.Info.AC_Hom=573;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.416C>T;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg139Lys/c.416G>A;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.416G>A_p.Arg139Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.416G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96827030">View</a>	GT:AD:DP:GQ:PL:TP	1|0:113,90:203:99:2435,0,3394:127	0|0:254,2:256:99:0,720,8579:127	1|0:118,96:214:99:2687,0,3291:127
10	96827118	.	A	G	7314.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=648;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbSNP139.ID=rs11572079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11572079" target="_blank">rs11572079</a>;ExAC.Info.AC=1243;ExAC.Info.AN=126384;ExAC.Info.AF=9.835e-03;ExAC.Info.AC_Het=1222;ExAC.Info.AC_Hom=14;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.332-4T>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332T>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.332-4T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.332-4T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96827118">View</a>	GT:AD:DP:GQ:PL:TP	0|0:204,0:204:99:0,616,8085:127	0|1:118,122:240:99:3645,0,3376:127	0|0:204,0:204:99:0,620,9026:127
10	96827119	.	T	TA	23360.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=607;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbSNP139.ID=rs11572078;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11572078" target="_blank">rs11572078</a>;ExAC.Info.AC=33823;ExAC.Info.AN=126690;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=23600;ExAC.Info.AC_Hom=5066;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.332-5_332-6insT;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332_333insA;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332_333insA;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332_333insT;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.332-6dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.332-6dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96827119">View</a>	GT:AD:DP:GQ:PL:TP	0|1:100,88:188:99:2094,0,2452:127	1|1:1,232:233:99:8597,670,0:127	0|0:186,0:186:99:0,559,5587:127
10	96827178	.	T	C	47674.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=689;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Rhabdomyolysis|_cerivastatin-induced_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275622" target="_blank">rs2275622</a>;ExAC.Info.AC=79748;ExAC.Info.AN=126652;ExAC.Info.AF=0.630;ExAC.Info.AC_Het=27441;ExAC.Info.AC_Hom=25852;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.332-64A>G;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332T>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332T>C;snpeff.Amino_Acid_length=490;snpeff.Gene_Name=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371270;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371270;SAVANT_GENE=CYP2C8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2C8" target="_blank">CYP2C8</a>;SAVANT_INFO=-/32.7kb/9/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.332-64A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2C8+c.332-64A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96827178">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,201:201:99:7416,605,0:127	1|1:0,271:271:99:9791,814,0:127	1|0:93,124:217:99:3926,0,2606:127
10	96954298	.	A	G	4029.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs591157;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=591157" target="_blank">rs591157</a>;ExAC.Info.AC=13757;ExAC.Info.AN=27920;ExAC.Info.AF=0.493;ExAC.Info.AC_Het=6071;ExAC.Info.AC_Hom=3416;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu19Gly/c.56A>G;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=C10orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf129" target="_blank">C10orf129</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341686;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341686;SAVANT_GENE=C10orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf129" target="_blank">C10orf129</a>;SAVANT_INFO=+/34.7kb/11/1.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.56A>G_p.Glu19Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf129+c.56A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96954298">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,17:40:99:490,0,621:127	0|0:79,0:79:99:0,237,2698:127	1|0:27,27:54:99:827,0,783:127
10	96954473	.	A	T	5916.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs592041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=592041" target="_blank">rs592041</a>;ExAC.Info.AC=13432;ExAC.Info.AN=27820;ExAC.Info.AF=0.483;ExAC.Info.AC_Het=5438;ExAC.Info.AC_Hom=3002;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.192+39A>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=C10orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf129" target="_blank">C10orf129</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341686;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341686;SAVANT_GENE=C10orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf129" target="_blank">C10orf129</a>;SAVANT_INFO=+/34.7kb/11/1.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.192+39A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf129+c.192+39A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96954473">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,23:53:99:851,0,1438:127	0|0:78,0:78:99:0,238,4432:127	1|0:28,36:64:99:1405,0,1261:127
10	96966954	.	GT	G	8462.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs58102963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58102963" target="_blank">rs58102963</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.404-10delT;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=C10orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf129" target="_blank">C10orf129</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341686;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000341686;SAVANT_GENE=C10orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf129" target="_blank">C10orf129</a>;SAVANT_INFO=+/34.7kb/11/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.404-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf129+c.404-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96966954">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,60:118:99:1497,0,1448:127	0|0:153,0:153:99:0,460,4752:127	1|0:66,66:132:99:1639,0,1674:127
10	96974803	.	A	G	5435.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs594448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=594448" target="_blank">rs594448</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1119+71A>G;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=C10orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf129" target="_blank">C10orf129</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341686;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341686;SAVANT_GENE=C10orf129;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf129" target="_blank">C10orf129</a>;SAVANT_INFO=+/34.7kb/11/1.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1119+71A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf129+c.1119+71A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96974803">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,25:58:99:679,0,999:127	0|0:107,0:107:99:0,321,3730:127	1|0:45,42:87:99:1170,0,1229:127
10	96997670	.	A	G	4569.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1049921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1049921" target="_blank">rs1049921</a>;ExAC.Info.AC=24767;ExAC.Info.AN=126680;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=19518;ExAC.Info.AC_Hom=2514;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.*12T>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329399;SAVANT_GENE=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;SAVANT_INFO=-/53.5kb/7/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*12T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDLIM1+c.*12T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96997670">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,25:49:99:627,0,697:127	1|0:35,43:78:99:1102,0,814:127	0|0:57,0:57:99:0,170,1861:127
10	96997820	.	A	G	4705.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1049814;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1049814" target="_blank">rs1049814</a>;ExAC.Info.AC=24791;ExAC.Info.AN=126704;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=19557;ExAC.Info.AC_Hom=2531;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.852A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr284Tyr/c.852T>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329399;SAVANT_GENE=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;SAVANT_INFO=-/53.5kb/7/1.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.852T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDLIM1+c.852T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96997820">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,31:52:99:956,0,557:127	1|0:36,39:75:99:1050,0,1011:127	0|0:47,0:47:99:0,141,1718:127
10	96998458	.	C	T	4477.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2901832;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2901832" target="_blank">rs2901832</a>;ExAC.Info.AC=19969;ExAC.Info.AN=126704;ExAC.Info.AF=0.158;ExAC.Info.AC_Het=16045;ExAC.Info.AC_Hom=1891;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.686-16G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329399;SAVANT_GENE=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;SAVANT_INFO=-/53.5kb/7/1.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.686-16G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDLIM1+c.686-16G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96998458">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,35:70:99:926,0,1009:127	0|0:117,0:117:99:0,352,4099:127	1|0:48,25:73:99:589,0,1339:127
10	96998519	.	T	C	13046.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2860998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2860998" target="_blank">rs2860998</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.686-77A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329399;SAVANT_GENE=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;SAVANT_INFO=-/53.5kb/7/1.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.686-77A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDLIM1+c.686-77A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:96998519">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2371,218,0:127	1|0:53,37:90:99:1058,0,1527:127	1|0:47,30:77:99:745,0,1236:127
10	97050555	.	C	T	1230.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs45546031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45546031" target="_blank">rs45546031</a>;ExAC.Info.AC=16376;ExAC.Info.AN=125876;ExAC.Info.AF=0.130;ExAC.Info.AC_Het=12097;ExAC.Info.AC_Hom=1051;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.96+22G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.97C>T;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.97C>T;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.97C>T;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.97C>T;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.97C>T;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329399;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329399;SAVANT_GENE=PDLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDLIM1" target="_blank">PDLIM1</a>;SAVANT_INFO=-/53.5kb/7/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.96+22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDLIM1+c.96+22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97050555">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1799:127	0|0:56,0:56:99:0,168,1914:127	0|1:21,21:42:99:634,0,657:127
10	97074887	.	T	C	14543.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs35348091;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35348091" target="_blank">rs35348091</a>;ExAC.Info.AC=6630;ExAC.Info.AN=126700;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=6148;ExAC.Info.AC_Hom=240;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3818-4A>G;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3818T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3818T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3818T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3818T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3818T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.3812-4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.3812-4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97074887">View</a>	GT:AD:DP:GQ:PL:TP	0/1:67,78:145:99:2123,0,1757:127	0/1:72,77:149:99:2268,0,2130:127	0/1:63,56:119:99:1460,0,1675:127
10	97096555	.	C	T	5042.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs114088633;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114088633" target="_blank">rs114088633</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3645+2335G>A;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.3362G>A_p.Arg1121His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.3362G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97096555">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,321,3720:127	0|1:68,84:152:99:2540,0,1938:127	0|0:95,0:95:99:0,285,3302:127
10	97106165	.	T	C	6849.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs726176;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=726176" target="_blank">rs726176</a>;ExAC.Info.AC=44881;ExAC.Info.AN=126698;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=26867;ExAC.Info.AC_Hom=8984;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3207T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3207T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3207T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SH3_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3207T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu1069Leu/c.3207A>G;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3207A>G;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.2427A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.2427A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97106165">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,22:44:99:648,0,674:120	0|1:25,33:58:99:999,0,645:120	1|1:0,40:40:99:1426,120,0:120
10	97116219	.	C	T	7189.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7076888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7076888" target="_blank">rs7076888</a>;ExAC.Info.AC=12117;ExAC.Info.AN=22914;ExAC.Info.AF=0.529;ExAC.Info.AC_Het=4393;ExAC.Info.AC_Hom=3093;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu691Leu/c.2073G>A;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371228:ENST00000371247;SAVANT_GENE=RP11-476E15.3:SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-476E153:SORBS1" target="_blank">RP11-476E153:SORBS1</a>;SAVANT_INFO=-/2.3kb/1/2.3kb:-/249.6kb/33/7.4kb;SAVANT_LOC=Ex1:In23/24;SAVANT_HGVS=c.618G>A_p.=:c.2128+1169G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-476E153:SORBS1+c.618G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97116219">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,41:94:99:1088,0,1583:127	0|0:106,0:106:99:0,318,4112:127	1|0:47,58:105:99:1692,0,1424:127
10	97127462	.	C	A	11843.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs6583998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6583998" target="_blank">rs6583998</a>;ExAC.Info.AC=98260;ExAC.Info.AN=126630;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=20558;ExAC.Info.AC_Hom=37177;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1207-6G>T;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1207G>T;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.1906-6G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.1906-6G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97127462">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,47:102:99:1280,0,1672:127	0|1:55,51:106:99:1509,0,1471:127	1|1:0,86:86:99:2897,258,0:127
10	97137105	.	A	G	4699.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=393;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1536556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1536556" target="_blank">rs1536556</a>;ExAC.Info.AC=61394;ExAC.Info.AN=116640;ExAC.Info.AF=0.526;ExAC.Info.AC_Het=27760;ExAC.Info.AC_Hom=16609;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1021-1292T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1654-1292T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.1654-1292T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97137105">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,336,3686:127	0|1:69,80:149:99:2367,0,1888:127	0|0:132,0:132:99:0,397,4540:127
10	97141523	.	G	A	10886.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=654;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2274490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274490" target="_blank">rs2274490</a>;ExAC.Info.AC=78468;ExAC.Info.AN=126698;ExAC.Info.AF=0.619;ExAC.Info.AC_Het=29057;ExAC.Info.AC_Hom=24677;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp313Asp/c.939C>T;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.1572C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.1572C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97141523">View</a>	GT:AD:DP:GQ:PL:TP	0|0:207,0:207:99:0,622,6995:127	0|1:145,112:257:99:3080,0,4259:127	0|1:97,93:190:99:2383,0,2901:127
10	97146820	.	C	A	1101.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=60;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10159602;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10159602" target="_blank">rs10159602</a>;ExAC.Info.AC=1635;ExAC.Info.AN=14892;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=520;ExAC.Info.AC_Hom=44;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.728-2778G>T;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1361-2778G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.1361-2778G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97146820">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,11:21:99:264,0,254:75	0|0:25,0:25:75:0,75,872:75	1|0:9,5:14:99:149,0,249:75
10	97146882	.	G	GA	459.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs149449849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149449849" target="_blank">rs149449849</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.728-2840_728-2841insT;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1361-2841dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.1361-2841dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97146882">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:74:0,74,681:72	0|0:26,0:26:79:0,79,729:72	0|1:9,11:20:99:253,0,191:72
10	97156908	.	T	C	21325.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=606;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs17110707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17110707" target="_blank">rs17110707</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.727+69A>G;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1222+69A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.1222+69A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97156908">View</a>	GT:AD:DP:GQ:PL:TP	1|0:88,84:172:99:2279,0,2238:127	0|0:240,1:241:99:0,719,7836:127	1|1:0,193:193:99:6809,580,0:127
10	97165811	.	G	A	3090.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3818540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818540" target="_blank">rs3818540</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.490+4579C>T;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.985+64C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.985+64C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97165811">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,346,3841:127	0|0:135,0:135:99:0,406,4416:127	0|1:78,58:136:99:1564,0,2020:127
10	97165984	.	G	GGGA	7832.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=278;MQ=69.92;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs200178451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200178451" target="_blank">rs200178451</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.490+4406_490+4405insTCC;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.956-81_956-80insTCC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.956-81_956-80insTCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97165984">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,39:86:99:1469,0,2922:127	0|0:97,0:97:99:0,292,6731:127	1|0:47,48:95:99:1863,0,3005:127
10	97165987	.	TCTCAAC	T	7544.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=277;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs200440325;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200440325" target="_blank">rs200440325</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.490+4397_490+4402delGTTGAG;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.956-89_956-84del6;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.956-89_956-84del6+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97165987">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,37:86:99:1368,0,3055:127	0|0:97,0:97:99:0,307,6936:127	1|0:47,47:94:99:1797,0,3011:127
10	97174164	.	A	G	394.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3818539;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818539" target="_blank">rs3818539</a>;ExAC.Info.AC=15311;ExAC.Info.AN=116940;ExAC.Info.AF=0.131;ExAC.Info.AC_Het=11867;ExAC.Info.AC_Hom=1462;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346-3630T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.810+87T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.810+87T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97174164">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1529:127	0|0:48,0:48:99:0,144,1680:127	0|1:27,8:35:99:216,0,845:127
10	97174225	.	T	C	6905.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12773574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12773574" target="_blank">rs12773574</a>;ExAC.Info.AC=4701;ExAC.Info.AN=123240;ExAC.Info.AF=0.038;ExAC.Info.AC_Het=4237;ExAC.Info.AC_Hom=138;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346-3691A>G;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.810+26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.810+26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97174225">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,41:84:99:1193,0,1085:127	0|0:108,0:108:99:0,324,3463:127	1|0:35,48:83:99:1431,0,884:127
10	97174269	.	C	T	9136.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11188316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11188316" target="_blank">rs11188316</a>;ExAC.Info.AC=7262;ExAC.Info.AN=126062;ExAC.Info.AF=0.058;ExAC.Info.AC_Het=6496;ExAC.Info.AC_Hom=268;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346-3735G>A;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.792G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.792G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97174269">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,48:93:99:1339,0,1240:127	1|0:56,74:130:99:2195,0,1565:127	0|0:95,0:95:99:0,285,3128:127
10	97175926	.	C	T	2237.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs35480352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35480352" target="_blank">rs35480352</a>;ExAC.Info.AC=474;ExAC.Info.AN=32954;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=13;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346-5392G>A;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.442-1307G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.442-1307G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97175926">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,13:34:99:347,0,616:127	0|0:47,0:47:99:0,141,1505:127	1|0:17,18:35:99:506,0,524:127
10	97192324	.	A	G	30252.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs943542;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=943542" target="_blank">rs943542</a>;ExAC.Info.AC=125929;ExAC.Info.AN=126704;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=737;ExAC.Info.AC_Hom=62572;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTt/cCt;snpeff.Amino_Acid_Change=p.Leu29Pro/c.86T>C;snpeff.Amino_Acid_length=1294;snpeff.Gene_Name=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607232;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371247;SAVANT_GENE=SORBS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORBS1" target="_blank">SORBS1</a>;SAVANT_INFO=-/249.6kb/33/7.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.182T>C_p.Leu61Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORBS1+c.182T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97192324">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:4222,393,0:127	1|1:0,126:126:99:4409,378,0:127	1|1:0,118:118:99:4133,355,0:127
10	97366746	.	C	T	11870.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cutis_laxa|_autosomal_recessive|_type_IIIA|_219150_(3);dbSNP139.ID=rs7099284;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7099284" target="_blank">rs7099284</a>;ExAC.Info.AC=56166;ExAC.Info.AN=126682;ExAC.Info.AF=0.443;ExAC.Info.AC_Het=28225;ExAC.Info.AC_Hom=13748;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2207-46G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371224;SAVANT_GENE=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;SAVANT_INFO=-/50.8kb/18/3.3kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2207-46G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH18A1+c.2207-46G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97366746">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,38:88:99:1102,0,1606:127	1|1:0,92:92:99:3202,277,0:127	0|1:33,41:74:99:1277,0,1013:127
10	97369939	.	C	T	11228.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cutis_laxa|_autosomal_recessive|_type_IIIA|_219150_(3);dbSNP139.ID=rs10882640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10882640" target="_blank">rs10882640</a>;ExAC.Info.AC=51998;ExAC.Info.AN=126704;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=28290;ExAC.Info.AC_Hom=11819;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2206+15G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2207C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371224;SAVANT_GENE=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;SAVANT_INFO=-/50.8kb/18/3.3kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2206+15G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH18A1+c.2206+15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97369939">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,41:83:99:1104,0,1215:127	1|1:0,86:86:99:2932,258,0:127	0|1:38,36:74:99:1019,0,1099:127
10	97370942	.	G	C	5614.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=604;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Cutis_laxa|_autosomal_recessive|_type_IIIA|_219150_(3);dbSNP139.ID=rs2296690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296690" target="_blank">rs2296690</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2110+71C>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111G>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371224;SAVANT_GENE=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;SAVANT_INFO=-/50.8kb/18/3.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2110+71C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH18A1+c.2110+71C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97370942">View</a>	GT:AD:DP:GQ:PL:TP	0|0:171,0:171:99:0,514,5955:127	0|0:245,0:245:99:0,734,7973:127	0|1:87,101:188:99:2826,0,2261:127
10	97370989	.	T	A	23602.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=568;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Cutis_laxa|_autosomal_recessive|_type_IIIA|_219150_(3);dbSNP139.ID=rs2296691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296691" target="_blank">rs2296691</a>;ExAC.Info.AC=37820;ExAC.Info.AN=126700;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=24874;ExAC.Info.AC_Hom=6466;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2110+24A>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2111T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371224;SAVANT_GENE=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;SAVANT_INFO=-/50.8kb/18/3.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2110+24A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH18A1+c.2110+24A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97370989">View</a>	GT:AD:DP:GQ:PL:TP	0|1:89,64:153:99:1766,0,2534:127	1|1:0,229:229:99:8157,688,0:127	0|0:186,0:186:99:0,559,6513:127
10	97376096	.	A	T	10775.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Cutis_laxa|_autosomal_recessive|_type_IIIA|_219150_(3);dbSNP139.ID=rs749049;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=749049" target="_blank">rs749049</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1605+138T>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371224;SAVANT_GENE=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;SAVANT_INFO=-/50.8kb/18/3.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1605+138T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH18A1+c.1605+138T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97376096">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,39:90:99:1079,0,1412:127	1|1:0,110:110:99:3782,331,0:127	0|0:143,0:143:99:0,429,4794:127
10	97376115	.	G	A	13455.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=416;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Cutis_laxa|_autosomal_recessive|_type_IIIA|_219150_(3);dbSNP139.ID=rs749050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=749050" target="_blank">rs749050</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1605+119C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371224;SAVANT_GENE=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;SAVANT_INFO=-/50.8kb/18/3.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1605+119C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH18A1+c.1605+119C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97376115">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,54:117:99:1448,0,2416:127	1|1:0,130:130:99:4542,391,0:127	0|0:169,0:169:99:0,508,6545:127
10	97376123	.	A	G	11244.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=442;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cutis_laxa|_autosomal_recessive|_type_IIIA|_219150_(3);dbSNP139.ID=rs72807340;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72807340" target="_blank">rs72807340</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1605+111T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1606A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371224;SAVANT_GENE=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;SAVANT_INFO=-/50.8kb/18/3.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1605+111T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH18A1+c.1605+111T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97376123">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,64:124:99:1949,0,2255:127	0|0:147,0:147:99:0,442,6409:127	1|0:88,83:171:99:2510,0,2532:127
10	97385242	.	A	G	5611.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cutis_laxa|_autosomal_recessive|_type_IIIA|_219150_(3);dbSNP139.ID=rs10509688;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10509688" target="_blank">rs10509688</a>;ExAC.Info.AC=22389;ExAC.Info.AN=126704;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=17182;ExAC.Info.AC_Hom=2595;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1153-30T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Gamma-glutamyl_phosphate_reductase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371224;SAVANT_GENE=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;SAVANT_INFO=-/50.8kb/18/3.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1153-30T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH18A1+c.1153-30T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97385242">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,42:78:99:1290,0,1054:127	0|0:76,0:76:99:0,229,3033:127	1|0:36,38:74:99:1215,0,1112:127
10	97388162	.	G	A	3404.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Cutis_laxa|_autosomal_recessive|_type_IIIA|_219150_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275272;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275272" target="_blank">rs2275272</a>;ExAC.Info.AC=13139;ExAC.Info.AN=126704;ExAC.Info.AF=0.104;ExAC.Info.AC_Het=11491;ExAC.Info.AC_Hom=824;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.896G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.896G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.896G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.896G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.896G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.896G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.896G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.896G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.896G>A;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aTc;snpeff.Amino_Acid_Change=p.Thr299Ile/c.896C>T;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371224;SAVANT_GENE=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;SAVANT_INFO=-/50.8kb/18/3.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.896C>T_p.Thr299Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH18A1+c.896C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97388162">View</a>	GT:AD:DP:GQ:PL:TP	0|0:121,0:121:99:0,363,3994:127	0|0:126,0:126:99:0,378,4221:127	0|1:68,65:133:99:1721,0,1857:127
10	97397227	.	T	C	7672.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Cutis_laxa|_autosomal_recessive|_type_IIIA|_219150_(3);dbSNP139.ID=rs2275273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275273" target="_blank">rs2275273</a>;ExAC.Info.AC=86656;ExAC.Info.AN=126688;ExAC.Info.AF=0.684;ExAC.Info.AC_Het=26662;ExAC.Info.AC_Hom=29536;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.304-34A>G;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Glutamate_5-kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304T>C;snpeff.Amino_Acid_length=795;snpeff.Gene_Name=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371224;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371224;SAVANT_GENE=ALDH18A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALDH18A1" target="_blank">ALDH18A1</a>;SAVANT_INFO=-/50.8kb/18/3.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.304-34A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALDH18A1+c.304-34A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97397227">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1512,135,0:119	1|1:0,40:40:99:1471,120,0:119	1|0:17,19:36:99:545,0,516:119
10	97423708	.	C	A	12445.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Orofaciodigital_syndrome_IV|_258860_(3)|_Joubert_syndrome_18|_614815_(3);dbSNP139.ID=rs6946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6946" target="_blank">rs6946</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=116;snpeff.Amino_Acid_Change=c.*116G>T;snpeff.Amino_Acid_length=625;snpeff.Gene_Name=TCTN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTN3" target="_blank">TCTN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265993;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265993;SAVANT_GENE=TCTN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTN3" target="_blank">TCTN3</a>;SAVANT_INFO=-/30.7kb/14/2.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*116G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCTN3+c.*116G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97423708">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,55:120:99:1502,0,1856:127	1|1:2,134:136:99:4666,359,0:127	0|0:168,0:168:99:0,505,5691:127
10	97440394	.	T	C	4700.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=522;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Orofaciodigital_syndrome_IV|_258860_(3)|_Joubert_syndrome_18|_614815_(3);dbSNP139.ID=rs12784530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12784530" target="_blank">rs12784530</a>;ExAC.Info.AC=25765;ExAC.Info.AN=126678;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=20004;ExAC.Info.AC_Hom=2769;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1507-28A>G;snpeff.Amino_Acid_length=625;snpeff.Gene_Name=TCTN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTN3" target="_blank">TCTN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265993;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265993;SAVANT_GENE=TCTN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTN3" target="_blank">TCTN3</a>;SAVANT_INFO=-/30.7kb/14/2.7kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1453-28A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCTN3+c.1453-28A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97440394">View</a>	GT:AD:DP:GQ:PL:TP	0|0:163,0:163:99:0,490,5490:127	0|0:193,0:193:99:0,580,6680:127	0|1:79,87:166:99:2369,0,2237:127
10	97442995	.	A	G	12075.3	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Orofaciodigital_syndrome_IV|_258860_(3)|_Joubert_syndrome_18|_614815_(3);dbSNP139.ID=rs17461546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17461546" target="_blank">rs17461546</a>;ExAC.Info.AC=36626;ExAC.Info.AN=126680;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=24371;ExAC.Info.AC_Hom=6017;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1258-43T>C;snpeff.Amino_Acid_length=625;snpeff.Gene_Name=TCTN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTN3" target="_blank">TCTN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265993;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265993;SAVANT_GENE=TCTN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTN3" target="_blank">TCTN3</a>;SAVANT_INFO=-/30.7kb/14/2.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1204-43T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCTN3+c.1204-43T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97442995">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,56:112:99:1610,0,1529:127	1|1:0,120:120:99:4133,360,0:127	0|0:91,0:91:99:0,274,3257:127
10	97446206	.	G	A	8886.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=426;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Orofaciodigital_syndrome_IV|_258860_(3)|_Joubert_syndrome_18|_614815_(3);dbSNP139.ID=rs2297788;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297788" target="_blank">rs2297788</a>;ExAC.Info.AC=44931;ExAC.Info.AN=126702;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=27369;ExAC.Info.AC_Hom=8741;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.942+46C>T;snpeff.Amino_Acid_length=625;snpeff.Gene_Name=TCTN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTN3" target="_blank">TCTN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265993;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265993;SAVANT_GENE=TCTN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTN3" target="_blank">TCTN3</a>;SAVANT_INFO=-/30.7kb/14/2.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.888+46C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCTN3+c.888+46C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97446206">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,58:105:99:1526,0,1332:127	0|0:157,0:157:99:0,471,5722:127	1|0:87,77:164:99:2020,0,2445:127
10	97447373	.	A	T	10643.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=552;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Orofaciodigital_syndrome_IV|_258860_(3)|_Joubert_syndrome_18|_614815_(3);dbSNP139.ID=rs10786229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10786229" target="_blank">rs10786229</a>;ExAC.Info.AC=44931;ExAC.Info.AN=126704;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=27375;ExAC.Info.AC_Hom=8759;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118618;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acA;snpeff.Amino_Acid_Change=p.Thr219Thr/c.657T>A;snpeff.Amino_Acid_length=625;snpeff.Gene_Name=TCTN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTN3" target="_blank">TCTN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265993;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265993;SAVANT_GENE=TCTN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCTN3" target="_blank">TCTN3</a>;SAVANT_INFO=-/30.7kb/14/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.603T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCTN3+c.603T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97447373">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118618" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:79,104:183:99:2664,0,2156:127	0|0:196,0:196:99:0,588,6685:127	1|0:89,84:173:99:2206,0,2565:127
10	97515948	.	T	TG	1055.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs149930011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149930011" target="_blank">rs149930011</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1255_1256insC;snpeff.Gene_Name=ENTPD1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000416301;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.52+426_52+427insG;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000371207;SAVANT_GENE=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;SAVANT_INFO=+/121.6kb/10/12.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.52+434dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENTPD1+c.52+434dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97515948">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,182,1725:127	0|1:40,27:67:99:551,0,934:127	0|0:51,0:51:99:0,153,1437:127
10	97602091	.	T	C	32970.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=875;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3181131;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3181131" target="_blank">rs3181131</a>;ExAC.Info.AC=67366;ExAC.Info.AN=126630;ExAC.Info.AF=0.532;ExAC.Info.AC_Het=29802;ExAC.Info.AC_Hom=18626;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.299-10T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.260+8567T>C;snpeff.Gene_Name=RP11-429G19.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433113;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.512+5058A>G;snpeff.Gene_Name=ENTPD1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000416301;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.299T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.299T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.299T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.299T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.299T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.299T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.299T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.299T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.299T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.299T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.299T>C;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371207;SAVANT_GENE=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;SAVANT_INFO=+/121.6kb/10/12.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.299-10T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENTPD1+c.299-10T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97602091">View</a>	GT:AD:DP:GQ:PL:TP	0|1:127,120:247:99:3636,0,3502:127	1|1:0,340:340:99:12408,1021,0:127	0|0:288,0:288:99:0,865,9786:127
10	97604406	.	A	G	7260.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=823;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3176886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3176886" target="_blank">rs3176886</a>;ExAC.Info.AC=14101;ExAC.Info.AN=126704;ExAC.Info.AF=0.111;ExAC.Info.AC_Het=12217;ExAC.Info.AC_Hom=940;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.609+14A>G;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.260+10882A>G;snpeff.Gene_Name=RP11-429G19.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433113;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.512+2743T>C;snpeff.Gene_Name=ENTPD1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000416301;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.610A>G;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371207;SAVANT_GENE=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;SAVANT_INFO=+/121.6kb/10/12.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.609+14A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENTPD1+c.609+14A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97604406">View</a>	GT:AD:DP:GQ:PL:TP	0|0:243,0:243:99:0,728,8323:127	0|0:312,0:312:99:0,937,10917:127	0|1:135,133:268:99:3649,0,3922:127
10	97607165	.	G	A	25725.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=688;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3181122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3181122" target="_blank">rs3181122</a>;ExAC.Info.AC=35456;ExAC.Info.AN=126702;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=23644;ExAC.Info.AC_Hom=5885;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.496C>T;snpeff.Gene_Name=ENTPD1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000416301;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.850-38G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.260+13641G>A;snpeff.Gene_Name=RP11-429G19.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433113;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371207;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371207;SAVANT_GENE=ENTPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1" target="_blank">ENTPD1</a>;SAVANT_INFO=+/121.6kb/10/12.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.850-38G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENTPD1+c.850-38G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97607165">View</a>	GT:AD:DP:GQ:PL:TP	0|1:95,106:201:99:3045,0,2671:127	1|1:1,258:259:99:9285,768,0:127	0|0:227,1:228:99:0,647,7949:127
10	97687184	.	A	G	11348.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs56365500;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56365500" target="_blank">rs56365500</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.312+95A>G;snpeff.Amino_Acid_length=176;snpeff.Gene_Name=C10orf131;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf131" target="_blank">C10orf131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423344;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.276-50767T>C;snpeff.Gene_Name=ENTPD1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf131" target="_blank">C10orf131</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000416301;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371202;SAVANT_GENE=C10orf131;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf131" target="_blank">C10orf131</a>;SAVANT_INFO=+/125.8kb/9/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.300+95A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf131+c.300+95A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97687184">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,41:98:99:1256,0,1788:127	1|1:0,110:110:99:4012,331,0:127	0|0:100,0:100:99:0,301,3741:127
10	97698338	.	G	A	2508.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35298116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35298116" target="_blank">rs35298116</a>;ExAC.Info.AC=2232;ExAC.Info.AN=21132;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=1769;ExAC.Info.AC_Hom=144;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.276-61921C>T;snpeff.Gene_Name=ENTPD1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000416301;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=372;snpeff.Amino_Acid_Change=c.*372G>A;snpeff.Amino_Acid_length=176;snpeff.Gene_Name=C10orf131;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423344;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371202;SAVANT_GENE=C10orf131;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf131" target="_blank">C10orf131</a>;SAVANT_INFO=+/125.8kb/9/1.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.512G>A_p.Arg171His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf131+c.512G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97698338">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1947:127	0|0:69,0:69:99:0,207,2338:127	0|1:36,42:78:99:1273,0,1015:127
10	97698370	.	C	T	16435.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4918979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4918979" target="_blank">rs4918979</a>;ExAC.Info.AC=13366;ExAC.Info.AN=20844;ExAC.Info.AF=0.641;ExAC.Info.AC_Het=3769;ExAC.Info.AC_Hom=4203;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.276-61953G>A;snpeff.Gene_Name=ENTPD1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000416301;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=404;snpeff.Amino_Acid_Change=c.*404C>T;snpeff.Amino_Acid_length=176;snpeff.Gene_Name=C10orf131;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD1-AS1" target="_blank">ENTPD1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423344;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371202;SAVANT_GENE=C10orf131;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf131" target="_blank">C10orf131</a>;SAVANT_INFO=+/125.8kb/9/1.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.544C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf131+c.544C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97698370">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2602,234,0:127	1|1:0,94:94:99:3217,283,0:127	1|0:54,54:108:99:1460,0,1577:127
10	97748040	.	G	A	6282.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7900838;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7900838" target="_blank">rs7900838</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CC2D2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D2B" target="_blank">CC2D2B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.275+100983C>T;snpeff.Gene_Name=ENTPD1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D2B" target="_blank">CC2D2B</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000416301;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3639;snpeff.Amino_Acid_Change=n.*85G>A;snpeff.Gene_Name=RP11-690P14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D2B" target="_blank">CC2D2B</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000475252;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371202;SAVANT_GENE=C10orf131;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf131" target="_blank">C10orf131</a>;SAVANT_INFO=+/125.8kb/9/1.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.766-44498G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf131+c.766-44498G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97748040">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,26:63:99:655,0,997:127	0|0:64,0:64:99:0,192,2017:127	1|1:0,58:58:99:2016,174,0:127
10	97748120	.	A	G	4901.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72813685;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72813685" target="_blank">rs72813685</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CC2D2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D2B" target="_blank">CC2D2B</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*144+21A>G;snpeff.Gene_Name=RP11-690P14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D2B" target="_blank">CC2D2B</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000475252;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.275+100903T>C;snpeff.Gene_Name=ENTPD1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CC2D2B" target="_blank">CC2D2B</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000416301;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371202;SAVANT_GENE=C10orf131;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf131" target="_blank">C10orf131</a>;SAVANT_INFO=+/125.8kb/9/1.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.766-44418A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf131+c.766-44418A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97748120">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,28:57:99:818,0,765:127	1|0:31,39:70:99:1255,0,913:127	0|0:63,0:63:99:0,189,2231:127
10	97772358	.	A	G	3704.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17383738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17383738" target="_blank">rs17383738</a>;ExAC.Info.AC=13298;ExAC.Info.AN=125136;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=11569;ExAC.Info.AC_Hom=860;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*914+2678A>G;snpeff.Gene_Name=RP11-690P14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-690P144" target="_blank">RP11-690P144</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000475252;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.275+76665T>C;snpeff.Gene_Name=ENTPD1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-690P144" target="_blank">RP11-690P144</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000416301;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn64Asp/c.190A>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=CC2D2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-690P144" target="_blank">RP11-690P144</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410012;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371202:ENST00000451649;SAVANT_GENE=C10orf131:CC2D2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf131:CC2D2B" target="_blank">C10orf131:CC2D2B</a>;SAVANT_INFO=+/125.8kb/9/1.9kb:+/32.6kb/12/2.1kb;SAVANT_LOC=In8/9:Ex5;SAVANT_HGVS=c.766-20180A>G:c.190A>G_p.Asn64Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf131:CC2D2B+c.766-20180A>G:c.190A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97772358">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,288,3236:127	0|0:124,0:124:99:0,372,4101:127	0|1:55,67:122:99:1871,0,1591:127
10	97816420	.	G	A	12251.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=682;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7099399;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7099399" target="_blank">rs7099399</a>;ExAC.Info.AC=64434;ExAC.Info.AN=125006;ExAC.Info.AF=0.515;ExAC.Info.AC_Het=26553;ExAC.Info.AC_Hom=15847;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.281-38G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CCNJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNJ" target="_blank">CCNJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000465148;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.275+32603C>T;snpeff.Gene_Name=ENTPD1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNJ" target="_blank">CCNJ</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000416301;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cyclin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.281G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CCNJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNJ" target="_blank">CCNJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000465148;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cyclin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.281G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CCNJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNJ" target="_blank">CCNJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000465148;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cyclin_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.281G>A;snpeff.Amino_Acid_length=383;snpeff.Gene_Name=CCNJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNJ" target="_blank">CCNJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000465148;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419934;SAVANT_GENE=CCNJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCNJ" target="_blank">CCNJ</a>;SAVANT_INFO=+/17.5kb/6/4.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.281-38G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCNJ+c.281-38G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97816420">View</a>	GT:AD:DP:GQ:PL:TP	1|0:112,77:189:99:1925,0,3319:127	0|0:262,0:262:99:0,787,9081:127	1|0:121,110:231:99:2831,0,3674:127
10	97920099	.	T	TC	66705.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=802;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs67530050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67530050" target="_blank">rs67530050</a>;ExAC.Info.AC=124764;ExAC.Info.AN=124764;ExAC.Info.AF=1.00;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=62312;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4877+1_4878-1insC;snpeff.Gene_Name=ZNF518A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF518A" target="_blank">ZNF518A</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000534948;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.4878_4879insC;snpeff.Gene_Name=ZNF518A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF518A" target="_blank">ZNF518A</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000534948;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.4878_4879insC;snpeff.Gene_Name=ZNF518A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF518A" target="_blank">ZNF518A</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000534948;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF518A" target="_blank">ZNF518A</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF518A+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97920099">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,242:242:99:9008,735,0:127	1|1:0,288:288:99:10810,875,0:127	1|1:0,272:272:99:10183,827,0:127
10	97975167	.	GTA	G	7393.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=265;MQ=70.07;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Agammaglobulinemia_4|_613502_(3);dbSNP139.ID=rs3835127;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3835127" target="_blank">rs3835127</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.608-24_608-23delTA;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608_609delTA;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608_609delTA;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608_609delTA;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608_609delTA;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608_609delTA;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608_609delTA;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.608_609delTA;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000224337;SAVANT_GENE=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;SAVANT_INFO=-/79.8kb/17/1.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.608-24_608-23delTA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BLNK+c.608-24_608-23delTA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97975167">View</a>	GT:AD:DP:GQ:PL:TP	0/1:64,20:84:99:390,0,1874:127	0/1:34,60:94:99:1437,0,888:127	0/1:19,68:87:99:1877,0,406:127
10	97987095	.	C	T	7147.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Agammaglobulinemia_4|_613502_(3);dbSNP139.ID=rs11188669;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11188669" target="_blank">rs11188669</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.361+71G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224337;SAVANT_GENE=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;SAVANT_INFO=-/79.8kb/17/1.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.361+71G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BLNK+c.361+71G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97987095">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1471,123,0:123	1|0:15,20:35:99:662,0,405:123	1|0:16,18:34:99:512,0,418:123
10	97987144	.	C	G	4590.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Agammaglobulinemia_4|_613502_(3);dbSNP139.ID=rs2305846;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2305846" target="_blank">rs2305846</a>;ExAC.Info.AC=54934;ExAC.Info.AN=126690;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=30511;ExAC.Info.AC_Hom=12089;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.361+22G>C;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>G;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>G;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>G;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>G;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>G;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>G;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.362C>G;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224337;SAVANT_GENE=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;SAVANT_INFO=-/79.8kb/17/1.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.361+22G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BLNK+c.361+22G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97987144">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,33:66:99:890,0,897:127	1|0:41,33:74:99:889,0,1322:127	0|0:53,0:53:99:0,159,1875:127
10	97987378	.	G	A	4184.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Agammaglobulinemia_4|_613502_(3);dbSNP139.ID=rs34233512;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34233512" target="_blank">rs34233512</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.205-56C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224337;SAVANT_GENE=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;SAVANT_INFO=-/79.8kb/17/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.205-56C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BLNK+c.205-56C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97987378">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2503:127	0|1:46,38:84:99:1076,0,1404:127	0|1:41,36:77:99:1036,0,1247:127
10	97990583	.	A	G	15629.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Agammaglobulinemia_4|_613502_(3);dbSNP139.ID=rs727852;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=727852" target="_blank">rs727852</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=78933;ExAC.Info.AN=126650;ExAC.Info.AF=0.623;ExAC.Info.AC_Het=25292;ExAC.Info.AC_Hom=24533;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro57Pro/c.171T>C;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224337;SAVANT_GENE=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;SAVANT_INFO=-/79.8kb/17/1.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.171T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BLNK+c.171T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:97990583">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1670,156,0:127	1|1:0,71:71:99:2236,213,0:127	1|1:0,61:61:99:2089,183,0:127
10	98006857	.	A	T	15191.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Agammaglobulinemia_4|_613502_(3);dbSNP139.ID=rs2168732;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2168732" target="_blank">rs2168732</a>;ExAC.Info.AC=106245;ExAC.Info.AN=126384;ExAC.Info.AF=0.841;ExAC.Info.AC_Het=13156;ExAC.Info.AC_Hom=45082;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.48-52T>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224337;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224337;SAVANT_GENE=BLNK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BLNK" target="_blank">BLNK</a>;SAVANT_INFO=-/79.8kb/17/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.48-52T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BLNK+c.48-52T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98006857">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:2669,276,0:127	1|1:0,96:96:99:2820,288,0:127	1|1:0,72:72:99:2143,216,0:127
10	98078239	.	A	G	41650.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6584066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6584066" target="_blank">rs6584066</a>;ExAC.Info.AC=126401;ExAC.Info.AN=126698;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=288;ExAC.Info.AC_Hom=63020;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334A>G;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BRCT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334A>G;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:BRCT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334A>G;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg112Gly/c.334A>G;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371174;SAVANT_GENE=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;SAVANT_INFO=+/34.2kb/11/2.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.334A>G_p.Arg112Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNTT+c.334A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98078239">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:4792,409,0:127	1|1:0,201:201:99:6964,603,0:127	1|1:0,132:132:99:4798,397,0:127
10	98087140	.	G	A	3554.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41291618;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41291618" target="_blank">rs41291618</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.875-85G>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371174;SAVANT_GENE=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;SAVANT_INFO=+/34.2kb/11/2.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.875-85G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNTT+c.875-85G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98087140">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,31:44:99:798,0,333:125	1|0:24,28:52:99:807,0,618:125	0|0:42,0:42:99:0,126,1411:125
10	98095794	.	T	C	22635.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10736102;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10736102" target="_blank">rs10736102</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1443+63T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_DNTTIP2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1444T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371174;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371174;SAVANT_GENE=DNTT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNTT" target="_blank">DNTT</a>;SAVANT_INFO=+/34.2kb/11/2.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1443+63T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNTT+c.1443+63T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98095794">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2749,231,0:127	1|1:0,92:92:99:3429,277,0:127	1|1:0,86:86:99:3176,258,0:127
10	98109442	.	A	T	2639.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72829508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72829508" target="_blank">rs72829508</a>;ExAC.Info.AC=3377;ExAC.Info.AN=126688;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=3232;ExAC.Info.AC_Hom=65;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.192+22T>A;snpeff.Amino_Acid_length=141;snpeff.Gene_Name=OPALIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPALIN" target="_blank">OPALIN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371172;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371172;SAVANT_GENE=OPALIN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPALIN" target="_blank">OPALIN</a>;SAVANT_INFO=-/16.1kb/6/3.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.192+22T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OPALIN+c.192+22T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98109442">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,14:42:99:312,0,698:120	1|0:27,21:48:99:571,0,737:120	0|0:40,0:40:99:0,120,1398:120
10	98127809	.	A	C	3230.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41291624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41291624" target="_blank">rs41291624</a>;ExAC.Info.AC=10653;ExAC.Info.AN=126692;ExAC.Info.AF=0.084;ExAC.Info.AC_Het=9539;ExAC.Info.AC_Hom=531;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=36;snpeff.Amino_Acid_Change=c.*36T>G;snpeff.Amino_Acid_length=1015;snpeff.Gene_Name=TLL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLL2" target="_blank">TLL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357947;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357947;SAVANT_GENE=TLL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TLL2" target="_blank">TLL2</a>;SAVANT_INFO=-/149.3kb/21/6.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*36T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TLL2+c.*36T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98127809">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,214,2546:127	0|0:79,0:79:99:0,238,2899:127	0|1:40,49:89:99:1634,0,1209:127
10	98287094	.	T	A	16818.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10786298;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10786298" target="_blank">rs10786298</a>;ExAC.Info.AC=125945;ExAC.Info.AN=126206;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=232;ExAC.Info.AC_Hom=58850;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1626-48A>T;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371142;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371142;SAVANT_GENE=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;SAVANT_INFO=-/68.9kb/15/6.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1626-48A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TM9SF3+c.1626-48A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98287094">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2166,183,0:127	1|1:0,96:96:99:3544,289,0:127	1|1:0,62:62:99:2327,186,0:127
10	98287150	.	A	G	6825.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3789958;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3789958" target="_blank">rs3789958</a>;ExAC.Info.AC=24256;ExAC.Info.AN=126566;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=18392;ExAC.Info.AC_Hom=2716;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1625+20T>C;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371142;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371142;SAVANT_GENE=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;SAVANT_INFO=-/68.9kb/15/6.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1625+20T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TM9SF3+c.1625+20T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98287150">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,27:66:99:703,0,1131:127	0/1:60,41:101:99:1296,0,1738:127	0/1:30,35:65:99:1102,0,865:127
10	98287261	.	G	C	8895.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3789957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3789957" target="_blank">rs3789957</a>;ExAC.Info.AC=83141;ExAC.Info.AN=126644;ExAC.Info.AF=0.656;ExAC.Info.AC_Het=26765;ExAC.Info.AC_Hom=27877;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1542-8C>G;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371142;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1542C>G;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371142;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371142;SAVANT_GENE=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;SAVANT_INFO=-/68.9kb/15/6.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1542-8C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TM9SF3+c.1542-8C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98287261">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,40:83:99:1112,0,1126:127	0/1:52,67:119:99:1844,0,1455:127	0/1:46,44:90:99:1213,0,1343:127
10	98287792	.	G	T	17581.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=582;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12779720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12779720" target="_blank">rs12779720</a>;ExAC.Info.AC=24334;ExAC.Info.AN=126700;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=18742;ExAC.Info.AC_Hom=2790;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cgg/Agg;snpeff.Amino_Acid_Change=p.Arg513Arg/c.1537C>A;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371142;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371142;SAVANT_GENE=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;SAVANT_INFO=-/68.9kb/15/6.1kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1537C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TM9SF3+c.1537C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98287792">View</a>	GT:AD:DP:GQ:PL:TP	0/1:95,89:184:99:2541,0,2611:127	0/1:110,87:197:99:2592,0,3268:127	0/1:108,93:201:99:2707,0,3106:127
10	98312891	.	C	T	15596.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10736113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10736113" target="_blank">rs10736113</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.661-75G>A;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371142;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371142;SAVANT_GENE=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;SAVANT_INFO=-/68.9kb/15/6.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.661-75G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TM9SF3+c.661-75G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98312891">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2295,198,0:127	1|1:0,91:91:99:3318,274,0:127	1|1:0,52:52:99:1909,156,0:127
10	98319367	.	A	T	4618.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3818389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818389" target="_blank">rs3818389</a>;ExAC.Info.AC=77100;ExAC.Info.AN=124020;ExAC.Info.AF=0.622;ExAC.Info.AC_Het=15176;ExAC.Info.AC_Hom=15518;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.660+49T>A;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371142;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371142;SAVANT_GENE=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;SAVANT_INFO=-/68.9kb/15/6.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.660+49T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TM9SF3+c.660+49T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98319367">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,30:52:99:797,0,550:127	0/1:34,31:65:99:767,0,914:127	0/1:23,23:46:99:624,0,630:127
10	98319503	.	A	T	2586.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3818390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818390" target="_blank">rs3818390</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.583-10T>A;snpeff.Amino_Acid_length=589;snpeff.Gene_Name=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000371142;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000371142;SAVANT_GENE=TM9SF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TM9SF3" target="_blank">TM9SF3</a>;SAVANT_INFO=-/68.9kb/15/6.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.583-10T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TM9SF3+c.583-10T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98319503">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,17:35:99:398,0,493:127	0/1:17,22:39:99:519,0,411:127	0/1:16,14:30:99:345,0,403:127
10	98369536	.	A	G	6665.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3748236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748236" target="_blank">rs3748236</a>;ExAC.Info.AC=26559;ExAC.Info.AN=126704;ExAC.Info.AF=0.210;ExAC.Info.AC_Het=19817;ExAC.Info.AC_Hom=3371;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser701Ser/c.2103T>C;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339364;SAVANT_GENE=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;SAVANT_INFO=-/127.2kb/17/4.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2103T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3AP1+c.2103T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98369536">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,29:70:99:678,0,1127:127	0/1:35,33:68:99:909,0,919:127	0/1:35,31:66:99:732,0,985:127
10	98380137	.	T	C	5939.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12784975;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12784975" target="_blank">rs12784975</a>;ExAC.Info.AC=22473;ExAC.Info.AN=126704;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=17650;ExAC.Info.AC_Hom=2410;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys638Arg/c.1913A>G;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339364;SAVANT_GENE=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;SAVANT_INFO=-/127.2kb/17/4.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1913A>G_p.Lys638Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3AP1+c.1913A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98380137">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,25:53:99:725,0,774:127	0/1:35,41:76:99:1132,0,922:127	0/1:19,25:44:99:705,0,599:127
10	98380277	.	C	T	1109.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=41;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3748234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748234" target="_blank">rs3748234</a>;ExAC.Info.AC=78580;ExAC.Info.AN=126700;ExAC.Info.AF=0.620;ExAC.Info.AC_Het=28132;ExAC.Info.AC_Hom=25162;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser591Ser/c.1773G>A;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339364;SAVANT_GENE=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;SAVANT_INFO=-/127.2kb/17/4.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1773G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3AP1+c.1773G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98380277">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,4:12:99:118,0,242:51	1|0:6,6:12:99:173,0,192:51	0|0:17,0:17:51:0,51,512:51
10	98383147	.	G	A	3078.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs60138313;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60138313" target="_blank">rs60138313</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1735+82C>T;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339364;SAVANT_GENE=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;SAVANT_INFO=-/127.2kb/17/4.8kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1735+82C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3AP1+c.1735+82C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98383147">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,1:105:99:0,285,3590:127	0|0:129,0:129:99:0,387,4594:127	0|1:43,50:93:99:1558,0,1217:127
10	98386558	.	G	A	24985.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4344416;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4344416" target="_blank">rs4344416</a>;ExAC.Info.AC=117199;ExAC.Info.AN=126702;ExAC.Info.AF=0.925;ExAC.Info.AC_Het=8281;ExAC.Info.AC_Hom=54456;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu526Leu/c.1576C>T;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339364;SAVANT_GENE=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;SAVANT_INFO=-/127.2kb/17/4.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1576C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3AP1+c.1576C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98386558">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,116:117:99:3827,311,0:127	1|1:0,115:115:99:3849,345,0:127	1|0:54,53:107:99:1436,0,1478:127
10	98411293	.	G	A	7424.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=875;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs35668691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35668691" target="_blank">rs35668691</a>;ExAC.Info.AC=3344;ExAC.Info.AN=126702;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=3216;ExAC.Info.AC_Hom=64;snpeff.Effect=sequence_feature[domain:DBB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828G>A;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DBB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828G>A;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DBB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828G>A;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DBB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.828G>A;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala276Ala/c.828C>T;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339364;SAVANT_GENE=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;SAVANT_INFO=-/127.2kb/17/4.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.828C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3AP1+c.828C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98411293">View</a>	GT:AD:DP:GQ:PL:TP	0|0:284,0:284:99:0,853,9310:127	0|0:319,0:319:99:0,958,10993:127	0|1:145,127:272:99:3731,0,4230:127
10	98469507	.	C	A	4828.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=294;MQ=69.92;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3748229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3748229" target="_blank">rs3748229</a>;ExAC.Info.AC=44422;ExAC.Info.AN=126696;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=27761;ExAC.Info.AC_Hom=8258;snpeff.Effect=sequence_feature[region_of_interest:Necessary_and_sufficent_to_mediate_inhibition_of_NF-kappa-B_downstream_of_activated_TLRs];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247C>A;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_and_sufficent_to_mediate_inhibition_of_NF-kappa-B_downstream_of_activated_TLRs];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.247C>A;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Tcc;snpeff.Amino_Acid_Change=p.Ala83Ser/c.247G>T;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339364;SAVANT_GENE=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;SAVANT_INFO=-/127.2kb/17/4.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.247G>T_p.Ala83Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3AP1+c.247G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98469507">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,297,3475:127	0|1:73,45:118:99:1238,0,2190:127	0|1:38,39:77:99:1196,0,1166:127
10	98469693	.	C	T	5379.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17112076;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17112076" target="_blank">rs17112076</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=19327;ExAC.Info.AN=126140;ExAC.Info.AF=0.153;ExAC.Info.AC_Het=15450;ExAC.Info.AC_Hom=1743;snpeff.Effect=sequence_feature[region_of_interest:Necessary_and_sufficent_to_mediate_inhibition_of_NF-kappa-B_downstream_of_activated_TLRs];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.61C>T;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Necessary_and_sufficent_to_mediate_inhibition_of_NF-kappa-B_downstream_of_activated_TLRs];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.61C>T;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu21Lys/c.61G>A;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339364;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339364;SAVANT_GENE=PIK3AP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3AP1" target="_blank">PIK3AP1</a>;SAVANT_INFO=-/127.2kb/17/4.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.61G>A_p.Glu21Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3AP1+c.61G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98469693">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,34:73:99:965,0,1137:127	0|0:72,0:72:99:0,217,2582:127	1|0:37,34:71:99:1041,0,1057:127
10	98741973	.	A	G	3288.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72819869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72819869" target="_blank">rs72819869</a>;ExAC.Info.AC=162;ExAC.Info.AN=126702;ExAC.Info.AF=1.279e-03;ExAC.Info.AC_Het=162;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Gaa;snpeff.Amino_Acid_Change=p.Lys276Glu/c.826A>G;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=C10orf12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf12" target="_blank">C10orf12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000286067;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000286067;SAVANT_GENE=C10orf12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf12" target="_blank">C10orf12</a>;SAVANT_INFO=+/4.5kb/1/4.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.826A>G_p.Lys276Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf12+c.826A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98741973">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,273,3090:127	0|1:62,54:116:99:1663,0,1872:127	0|0:103,0:103:99:0,309,3471:127
10	98742750	.	A	C	2436.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3829856;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829856" target="_blank">rs3829856</a>;ExAC.Info.AC=9118;ExAC.Info.AN=126684;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=8220;ExAC.Info.AC_Hom=436;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Ctc;snpeff.Amino_Acid_Change=p.Ile535Leu/c.1603A>C;snpeff.Amino_Acid_length=1247;snpeff.Gene_Name=C10orf12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf12" target="_blank">C10orf12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000286067;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000286067;SAVANT_GENE=C10orf12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf12" target="_blank">C10orf12</a>;SAVANT_INFO=+/4.5kb/1/4.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1603A>C_p.Ile535Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf12+c.1603A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98742750">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4497:127	0|0:151,0:151:99:0,454,5336:127	0|1:88,46:134:99:1237,0,2453:127
10	98778796	.	T	G	95.04	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs200648437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200648437" target="_blank">rs200648437</a>;ExAC.Info.AC=16584;ExAC.Info.AN=124000;ExAC.Info.AF=0.134;ExAC.Info.AC_Het=15906;ExAC.Info.AC_Hom=0;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=144405;snpeff.Amino_Acid_Change=c.*2538A>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815T>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Ccc;snpeff.Amino_Acid_Change=p.Thr939Pro/c.2815A>C;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000266058;SAVANT_GENE=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLIT1" target="_blank">SLIT1</a>;SAVANT_INFO=-/187.9kb/37/7.9kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.2815A>C_p.Thr939Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLIT1+c.2815A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98778796">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,7:49:7:0,7,1234:7	0|1:51,15:66:38:38,0,1383:7	0|1:33,7:40:29:29,0,1013:7
10	98787354	.	T	C	3250.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=545;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7896883;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7896883" target="_blank">rs7896883</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*2305+3160A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2582+3160A>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000266058;SAVANT_GENE=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLIT1" target="_blank">SLIT1</a>;SAVANT_INFO=-/187.9kb/37/7.9kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.2582+3160A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLIT1+c.2582+3160A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98787354">View</a>	GT:AD:DP:GQ:PL:TP	0|0:176,0:176:99:0,529,6197:127	0|0:203,0:203:99:0,610,7006:127	0|1:102,64:166:99:1644,0,3130:127
10	98791265	.	G	A	728.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72819888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72819888" target="_blank">rs72819888</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*2233+98C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2510+98C>T;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511G>A;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511G>A;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000266058;SAVANT_GENE=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLIT1" target="_blank">SLIT1</a>;SAVANT_INFO=-/187.9kb/37/7.9kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.2510+98C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLIT1+c.2510+98C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98791265">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,915:77	0|0:33,0:33:99:0,99,1143:77	0|1:23,14:37:99:383,0,624:77
10	98797351	.	A	G	8878.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=102;MQ=69.78;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2805586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2805586" target="_blank">rs2805586</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*2089+104T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2366+104T>C;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_18];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2367A>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_18];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2367A>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000266058;SAVANT_GENE=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLIT1" target="_blank">SLIT1</a>;SAVANT_INFO=-/187.9kb/37/7.9kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2366+104T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLIT1+c.2366+104T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98797351">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1119,99,0:86	1|1:0,40:40:99:1340,120,0:86	1|1:0,29:29:87:996,87,0:86
10	98808866	.	C	G	28655.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=343;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2805588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2805588" target="_blank">rs2805588</a>;ExAC.Info.AC=125191;ExAC.Info.AN=126694;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1340;ExAC.Info.AC_Hom=61771;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=114335;snpeff.Amino_Acid_Change=c.*1034G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcC;snpeff.Amino_Acid_Change=p.Ala437Ala/c.1311G>C;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000266058;SAVANT_GENE=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLIT1" target="_blank">SLIT1</a>;SAVANT_INFO=-/187.9kb/37/7.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1311G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLIT1+c.1311G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98808866">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,128:128:99:4182,384,0:127	1|1:0,119:119:99:3946,357,0:127	1|1:0,96:96:99:3303,288,0:127
10	98817687	.	A	G	2300.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7914872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7914872" target="_blank">rs7914872</a>;ExAC.Info.AC=4914;ExAC.Info.AN=22422;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=3177;ExAC.Info.AC_Hom=601;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*809-649T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1086-649T>C;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086A>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086A>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000266058;SAVANT_GENE=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLIT1" target="_blank">SLIT1</a>;SAVANT_INFO=-/187.9kb/37/7.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1086-649T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLIT1+c.1086-649T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98817687">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2141:127	0|1:49,40:89:99:1169,0,1412:127	0|0:61,0:61:99:0,183,2090:127
10	98819317	.	A	G	12786.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2817676;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2817676" target="_blank">rs2817676</a>;ExAC.Info.AC=85530;ExAC.Info.AN=126524;ExAC.Info.AF=0.676;ExAC.Info.AC_Het=25131;ExAC.Info.AC_Hom=29354;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*737-29T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1014-29T>C;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1014A>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1014A>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000266058;SAVANT_GENE=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLIT1" target="_blank">SLIT1</a>;SAVANT_INFO=-/187.9kb/37/7.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1014-29T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLIT1+c.1014-29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98819317">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1617,150,0:127	1|0:29,36:65:99:1023,0,731:127	1|1:0,67:67:99:2182,201,0:127
10	98820528	.	C	G	1512.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs33970910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33970910" target="_blank">rs33970910</a>;ExAC.Info.AC=13933;ExAC.Info.AN=126462;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=11611;ExAC.Info.AC_Hom=816;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=102673;snpeff.Amino_Acid_Change=c.*533G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggC;snpeff.Amino_Acid_Change=p.Gly270Gly/c.810G>C;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000266058;SAVANT_GENE=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLIT1" target="_blank">SLIT1</a>;SAVANT_INFO=-/187.9kb/37/7.9kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.810G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLIT1+c.810G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98820528">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,1:46:96:0,96,1516:95	0|1:23,28:51:99:775,0,656:95	0|0:51,0:51:99:0,153,1847:95
10	98928914	.	C	G	3356.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=80;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2784918;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2784918" target="_blank">rs2784918</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1475-4267G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.198-4267G>C;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.198C>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.198C>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000266058;SAVANT_GENE=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLIT1" target="_blank">SLIT1</a>;SAVANT_INFO=-/187.9kb/37/7.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.198-4267G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLIT1+c.198-4267G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98928914">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,16:33:99:390,0,451:63	0|1:10,16:26:99:411,0,232:63	1|1:0,21:21:63:665,63,0:63
10	98928942	.	A	G	3101.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2784917;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2784917" target="_blank">rs2784917</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1475-4295T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.198-4295T>C;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.198A>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.198A>G;snpeff.Amino_Acid_length=1534;snpeff.Gene_Name=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000266058;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000266058;SAVANT_GENE=SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLIT1" target="_blank">SLIT1</a>;SAVANT_INFO=-/187.9kb/37/7.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.198-4295T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLIT1+c.198-4295T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98928942">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,13:29:99:381,0,420:51	0|1:14,15:29:99:354,0,403:51	1|1:0,17:17:51:601,51,0:51
10	98995076	.	A	G	2294.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs946981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=946981" target="_blank">rs946981</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=35755;ExAC.Info.AN=126698;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=25097;ExAC.Info.AC_Hom=5315;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1186-4T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1186-4T>C;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1186T>C;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358531;SAVANT_GENE=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;SAVANT_INFO=-/70.5kb/12/5.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1186-4T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP19+c.1186-4T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:98995076">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,300,3311:127	0|0:132,0:132:99:0,397,4442:127	0|1:57,42:99:99:1166,0,1703:127
10	99006083	.	G	A	2614.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs13439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13439" target="_blank">rs13439</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=36552;ExAC.Info.AN=126688;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=25457;ExAC.Info.AC_Hom=5449;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr313Tyr/c.939C>T;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr313Tyr/c.939C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358531;SAVANT_GENE=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;SAVANT_INFO=-/70.5kb/12/5.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.939C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP19+c.939C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99006083">View</a>	GT:AD:DP:GQ:PL:TP	0|0:121,0:121:99:0,363,4103:127	0|0:127,0:127:99:0,382,4600:127	0|1:66,51:117:99:1326,0,2021:127
10	99019144	.	C	T	12869.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3740522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740522" target="_blank">rs3740522</a>;ExAC.Info.AC=72345;ExAC.Info.AN=126688;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=29101;ExAC.Info.AC_Hom=21596;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.840+15G>A;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.840+15G>A;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841C>T;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841C>T;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841C>T;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841C>T;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.841C>T;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358531;SAVANT_GENE=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;SAVANT_INFO=-/70.5kb/12/5.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.840+15G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP19+c.840+15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99019144">View</a>	GT:AD:DP:GQ:PL:TP	0/1:77,64:141:99:1630,0,2198:127	0/1:95,73:168:99:1968,0,2852:127	0/1:73,70:143:99:1829,0,2160:127
10	99019177	.	A	G	22675.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=511;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2253301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2253301" target="_blank">rs2253301</a>;ExAC.Info.AC=116660;ExAC.Info.AN=126704;ExAC.Info.AF=0.921;ExAC.Info.AC_Het=8641;ExAC.Info.AC_Hom=53998;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.822A>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.822A>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.822A>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.822A>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.822A>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His274His/c.822T>C;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His274His/c.822T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358531;SAVANT_GENE=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;SAVANT_INFO=-/70.5kb/12/5.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.822T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP19+c.822T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99019177">View</a>	GT:AD:DP:GQ:PL:TP	1|0:88,79:167:99:2083,0,2366:127	0|1:100,85:185:99:2385,0,2911:127	1|1:0,159:159:99:5482,478,0:127
10	99024572	.	A	G	1798.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs793524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=793524" target="_blank">rs793524</a>;ExAC.Info.AC=37532;ExAC.Info.AN=126694;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=25722;ExAC.Info.AC_Hom=5800;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.403+11T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ARHGAP19-SLIT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453547;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.403+11T>C;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404A>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404A>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404A>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404A>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Rho-GAP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404A>G;snpeff.Amino_Acid_length=494;snpeff.Gene_Name=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19-SLIT1" target="_blank">ARHGAP19-SLIT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358531;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358531;SAVANT_GENE=ARHGAP19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP19" target="_blank">ARHGAP19</a>;SAVANT_INFO=-/70.5kb/12/5.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.403+11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP19+c.403+11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99024572">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1548:125	0|0:59,0:59:99:0,177,2196:125	0|1:34,27:61:99:918,0,1091:125
10	99116903	.	C	T	10506.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1048445;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048445" target="_blank">rs1048445</a>;ExAC.Info.AC=34760;ExAC.Info.AN=126704;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=24751;ExAC.Info.AC_Hom=4990;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg1281Gln/c.3842G>A;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.3842G>A_p.Arg1281Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.3842G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99116903">View</a>	GT:AD:DP:GQ:PL:TP	0/1:57,48:105:99:1190,0,1558:127	0/1:53,64:117:99:1823,0,1457:127	0/1:41,54:95:99:1512,0,1156:127
10	99118382	.	T	C	4539.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2297988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297988" target="_blank">rs2297988</a>;ExAC.Info.AC=43582;ExAC.Info.AN=126704;ExAC.Info.AF=0.344;ExAC.Info.AC_Het=27698;ExAC.Info.AC_Hom=7940;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3709-6A>G;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3709A>G;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.3709-6A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.3709-6A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99118382">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,294,3210:127	0|1:56,79:135:99:2287,0,1430:127	0|0:82,0:82:99:0,246,2643:127
10	99125788	.	G	C	2668.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10882907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10882907" target="_blank">rs10882907</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3517+77C>G;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.3517+77C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.3517+77C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99125788">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,3777:127	0|1:36,36:72:99:1353,0,2037:127	0|0:63,0:63:99:0,189,3878:127
10	99125949	.	C	T	7940.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|B|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275580" target="_blank">rs2275580</a>;ExAC.Info.AC=67615;ExAC.Info.AN=126704;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=29499;ExAC.Info.AC_Hom=19050;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly1145Ser/c.3433G>A;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=Ex29;SAVANT_HGVS=c.3433G>A_p.Gly1145Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.3433G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99125949">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,33:74:99:946,0,1151:127	0|0:115,0:115:99:0,346,3761:127	1|1:0,64:64:99:2315,192,0:127
10	99126249	.	G	A	3124.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2275581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275581" target="_blank">rs2275581</a>;ExAC.Info.AC=33002;ExAC.Info.AN=126702;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=24030;ExAC.Info.AC_Hom=4471;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp1115Asp/c.3345C>T;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.3345C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.3345C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99126249">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,260,2909:127	0|1:58,55:113:99:1581,0,1718:127	0|0:93,0:93:99:0,279,3010:127
10	99126426	.	G	T	6624.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72838759;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72838759" target="_blank">rs72838759</a>;ExAC.Info.AC=4;ExAC.Info.AN=126686;ExAC.Info.AF=3.157e-05;ExAC.Info.AC_Het=11;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3216-48C>A;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3216G>T;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3216G>T;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphoserine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.3216G>T;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphoserine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.3216G>T;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3216-48C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.3216-48C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99126426">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,62:135:99:1538,0,2128:127	0|0:189,0:189:99:0,568,6831:127	1|0:48,49:97:99:1431,0,1312:127
10	99130161	.	CCCCA	C	5883.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs149757559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149757559" target="_blank">rs149757559</a>;ExAC.Info.AC=12857;ExAC.Info.AN=126370;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=9728;ExAC.Info.AC_Hom=711;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2689+47_2689+50delTGGG;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2689+47_2689+50delTGGG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.2689+47_2689+50delTGGG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99130161">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,25:53:99:966,0,1307:127	0|0:75,1:76:99:0,183,3705:127	1|0:22,21:43:99:789,0,973:127
10	99140511	.	A	G	962.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7078004;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7078004" target="_blank">rs7078004</a>;ExAC.Info.AC=43041;ExAC.Info.AN=126664;ExAC.Info.AF=0.340;ExAC.Info.AC_Het=27696;ExAC.Info.AC_Hom=7445;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1533+45T>C;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1533+45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.1533+45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99140511">View</a>	GT:AD:DP:GQ:PL:TP	0|0:23,0:23:69:0,69,789:68	0|1:20,17:37:99:500,0,547:68	0|0:39,0:39:99:0,117,1376:68
10	99141205	.	A	G	3288.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2275089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275089" target="_blank">rs2275089</a>;ExAC.Info.AC=42815;ExAC.Info.AN=126672;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=27539;ExAC.Info.AC_Hom=7266;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala452Ala/c.1356T>C;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1356T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.1356T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99141205">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,366,4227:127	0|1:82,58:140:99:1663,0,2445:127	0|0:129,0:129:99:0,388,4475:127
10	99141484	.	C	T	3922.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12218483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12218483" target="_blank">rs12218483</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=32878;ExAC.Info.AN=126700;ExAC.Info.AF=0.259;ExAC.Info.AC_Het=23939;ExAC.Info.AC_Hom=4446;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr436Thr/c.1308G>A;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1308G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.1308G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99141484">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,264,3055:127	0|1:57,72:129:99:1980,0,1574:127	0|0:75,0:75:99:0,225,2532:127
10	99148151	.	A	G	1410.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2275090;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275090" target="_blank">rs2275090</a>;ExAC.Info.AC=43066;ExAC.Info.AN=126694;ExAC.Info.AF=0.340;ExAC.Info.AC_Het=27852;ExAC.Info.AC_Hom=7590;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.890-15T>C;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.890-15T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.890-15T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99148151">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2128:127	0|1:39,26:65:99:724,0,1206:127	0|0:58,0:58:99:0,174,2014:127
10	99153540	.	T	G	860.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7898743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7898743" target="_blank">rs7898743</a>;ExAC.Info.AC=53185;ExAC.Info.AN=126672;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=29878;ExAC.Info.AC_Hom=11473;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.454-23A>C;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.454-23A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.454-23A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99153540">View</a>	GT:AD:DP:GQ:PL:TP	0|0:17,0:17:51:0,51,643:50	0|1:13,14:27:99:449,0,396:50	0|0:22,0:22:66:0,66,778:50
10	99155984	.	G	A	1551.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3814553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814553" target="_blank">rs3814553</a>;ExAC.Info.AC=43028;ExAC.Info.AN=126702;ExAC.Info.AF=0.340;ExAC.Info.AC_Het=27868;ExAC.Info.AC_Hom=7563;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe148Phe/c.444C>T;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.444C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.444C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99155984">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1496:101	0|1:30,26:56:99:795,0,828:101	0|0:34,0:34:99:0,102,1263:101
10	99160152	.	A	G	4184.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1048442;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048442" target="_blank">rs1048442</a>;ExAC.Info.AC=42873;ExAC.Info.AN=126704;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=27808;ExAC.Info.AC_Hom=7526;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly93Gly/c.279T>C;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.279T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.279T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99160152">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,420,4329:127	0|1:76,75:151:99:2111,0,2104:127	0|0:125,0:125:99:0,373,3990:127
10	99160965	.	A	G	21758.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=504;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2275091;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275091" target="_blank">rs2275091</a>;ExAC.Info.AC=121589;ExAC.Info.AN=126696;ExAC.Info.AF=0.960;ExAC.Info.AC_Het=4778;ExAC.Info.AC_Hom=58379;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.94A>G;snpeff.Gene_Name=RP11-452K12.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-452K127" target="_blank">RP11-452K127</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000422848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro8Pro/c.24T>C;snpeff.Amino_Acid_length=1297;snpeff.Gene_Name=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-452K127" target="_blank">RP11-452K127</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370992;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370992;SAVANT_GENE=RRP12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP12" target="_blank">RRP12</a>;SAVANT_INFO=-/44.6kb/34/4.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.24T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP12+c.24T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99160965">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,82:163:99:2284,0,2301:127	0|1:127,93:220:99:2568,0,3698:127	1|1:0,121:121:99:4178,364,0:127
10	99205686	.	A	G	7736.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2297666;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297666" target="_blank">rs2297666</a>;ExAC.Info.AC=38531;ExAC.Info.AN=126704;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=25759;ExAC.Info.AC_Hom=6371;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.31+26T>C;snpeff.Amino_Acid_length=195;snpeff.Gene_Name=EXOSC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOSC1" target="_blank">EXOSC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370902;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370902;SAVANT_GENE=EXOSC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXOSC1" target="_blank">EXOSC1</a>;SAVANT_INFO=-/9.9kb/8/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.31+26T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXOSC1+c.31+26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99205686">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,60:132:99:1669,0,1931:127	0|0:157,3:160:99:0,395,5105:127	1|0:84,47:131:99:1369,0,2335:127
10	99215842	.	CTG	C	7875.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=557;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs139199872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139199872" target="_blank">rs139199872</a>;ExAC.Info.AC=983;ExAC.Info.AN=126684;ExAC.Info.AF=7.759e-03;ExAC.Info.AC_Het=961;ExAC.Info.AC_Hom=9;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1019+42_1019+43delTG;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=ZDHHC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC16" target="_blank">ZDHHC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370854;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1020_1021delTG;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=ZDHHC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC16" target="_blank">ZDHHC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370854;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1020_1021delTG;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=ZDHHC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC16" target="_blank">ZDHHC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370854;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1020_1021delTG;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=ZDHHC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC16" target="_blank">ZDHHC16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370854;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000393760;SAVANT_GENE=ZDHHC16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC16" target="_blank">ZDHHC16</a>;SAVANT_INFO=+/11.2kb/12/2.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1019+44_1019+45delTG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZDHHC16+c.1019+44_1019+45delTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99215842">View</a>	GT:AD:DP:GQ:PL:TP	0|0:165,0:165:99:0,496,7335:127	0|1:115,106:221:99:3961,0,4485:127	0|0:171,0:171:99:0,514,7604:127
10	99219404	.	TG	T	5059.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs29001331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=29001331" target="_blank">rs29001331</a>;ExAC.Info.AC=37236;ExAC.Info.AN=126374;ExAC.Info.AF=0.295;ExAC.Info.AC_Het=24444;ExAC.Info.AC_Hom=5263;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2739+11delC;snpeff.Amino_Acid_length=1030;snpeff.Gene_Name=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438925;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000438925;SAVANT_GENE=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;SAVANT_INFO=-/40.4kb/31/3.8kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.2739+11delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMS19+c.2739+11delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99219404">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,340,4567:127	0|1:73,74:147:99:2553,0,2507:127	0|0:143,0:143:99:0,430,5771:127
10	99219885	.	G	A	6310.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2152092;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2152092" target="_blank">rs2152092</a>;ExAC.Info.AC=67872;ExAC.Info.AN=126450;ExAC.Info.AF=0.537;ExAC.Info.AC_Het=31083;ExAC.Info.AC_Hom=18349;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala858Ala/c.2574C>T;snpeff.Amino_Acid_length=1030;snpeff.Gene_Name=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438925;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438925;SAVANT_GENE=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;SAVANT_INFO=-/40.4kb/31/3.8kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.2574C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMS19+c.2574C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99219885">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,292,3305:127	0|1:58,57:115:99:1614,0,1584:127	0|1:39,52:91:99:1561,0,1132:127
10	99220707	.	C	T	7039.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740526" target="_blank">rs3740526</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=40088;ExAC.Info.AN=123444;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=15282;ExAC.Info.AC_Hom=3970;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gAc;snpeff.Amino_Acid_Change=p.Gly790Asp/c.2369G>A;snpeff.Amino_Acid_length=1030;snpeff.Gene_Name=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438925;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438925;SAVANT_GENE=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;SAVANT_INFO=-/40.4kb/31/3.8kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2369G>A_p.Gly790Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMS19+c.2369G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99220707">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,40:86:99:1079,0,1327:127	0|0:126,0:126:99:0,379,4516:127	1|0:50,53:103:99:1536,0,1410:127
10	99225738	.	T	A	8468.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2236575;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236575" target="_blank">rs2236575</a>;ExAC.Info.AC=52662;ExAC.Info.AN=126414;ExAC.Info.AF=0.417;ExAC.Info.AC_Het=30329;ExAC.Info.AC_Hom=11102;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1607-27A>T;snpeff.Amino_Acid_length=1030;snpeff.Gene_Name=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438925;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438925;SAVANT_GENE=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;SAVANT_INFO=-/40.4kb/31/3.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1607-27A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMS19+c.1607-27A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99225738">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,57:128:99:1457,0,1921:127	0|0:176,0:176:99:0,529,6062:127	1|0:62,51:113:99:1347,0,1881:127
10	99226370	.	A	C	1758.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs29001315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=29001315" target="_blank">rs29001315</a>;ExAC.Info.AC=29821;ExAC.Info.AN=126426;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=22369;ExAC.Info.AC_Hom=3675;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1424-28T>G;snpeff.Amino_Acid_length=1030;snpeff.Gene_Name=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438925;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438925;SAVANT_GENE=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;SAVANT_INFO=-/40.4kb/31/3.8kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1424-28T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMS19+c.1424-28T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99226370">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2076:127	0|0:97,0:97:99:0,291,3252:127	0|1:43,30:73:99:898,0,1285:127
10	99229394	.	G	A	1323.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2275583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275583" target="_blank">rs2275583</a>;ExAC.Info.AC=37520;ExAC.Info.AN=126430;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=25710;ExAC.Info.AC_Hom=5830;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.924+9C>T;snpeff.Amino_Acid_length=1030;snpeff.Gene_Name=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438925;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438925;SAVANT_GENE=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;SAVANT_INFO=-/40.4kb/31/3.8kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.924+9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMS19+c.924+9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99229394">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1378:119	0|1:20,25:45:99:681,0,563:119	0|0:42,0:42:99:0,126,1525:119
10	99237779	.	G	C	642.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs29001281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=29001281" target="_blank">rs29001281</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.349-93C>G;snpeff.Amino_Acid_length=1030;snpeff.Gene_Name=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438925;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438925;SAVANT_GENE=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;SAVANT_INFO=-/40.4kb/31/3.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.349-93C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMS19+c.349-93C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99237779">View</a>	GT:AD:DP:GQ:PL:TP	0|0:22,0:22:66:0,66,770:65	0|0:32,0:32:96:0,96,1179:65	0|1:11,12:23:99:340,0,320:65
10	99240048	.	C	T	97.54	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=11;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7897727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7897727" target="_blank">rs7897727</a>;ExAC.Info.AC=9575;ExAC.Info.AN=18486;ExAC.Info.AF=0.518;ExAC.Info.AC_Het=3371;ExAC.Info.AC_Hom=2280;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.262+651G>A;snpeff.Amino_Acid_length=1030;snpeff.Gene_Name=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438925;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438925;SAVANT_GENE=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;SAVANT_INFO=-/40.4kb/31/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.262+651G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMS19+c.262+651G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99240048">View</a>	GT:AD:DP:GQ:PL:TP	0|0:2,0:2:6:0,6,75:6	0|1:2,2:4:63:67,0,63:6	0|0:5,0:5:15:0,15,141:6
10	99240758	.	G	C	6125.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275586" target="_blank">rs2275586</a>;ExAC.Info.AC=121749;ExAC.Info.AN=126356;ExAC.Info.AF=0.964;ExAC.Info.AC_Het=4071;ExAC.Info.AC_Hom=56143;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gGa;snpeff.Amino_Acid_Change=p.Ala68Gly/c.203C>G;snpeff.Amino_Acid_length=1030;snpeff.Gene_Name=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438925;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438925;SAVANT_GENE=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;SAVANT_INFO=-/40.4kb/31/3.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.203C>G_p.Ala68Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMS19+c.203C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99240758">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,26:45:99:758,0,556:81	0|1:14,29:43:99:911,0,348:81	1|1:0,27:27:81:999,81,0:81
10	99258223	.	T	G	10845.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3750558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750558" target="_blank">rs3750558</a>;ExAC.Info.AC=38919;ExAC.Info.AN=101006;ExAC.Info.AF=0.385;ExAC.Info.AC_Het=4831;ExAC.Info.AC_Hom=2648;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=82;snpeff.Amino_Acid_Change=c.-82A>C;snpeff.Amino_Acid_length=1030;snpeff.Gene_Name=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438925;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438925;SAVANT_GENE=MMS19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMS19" target="_blank">MMS19</a>;SAVANT_INFO=-/40.4kb/31/3.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-82A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMS19+c.-82A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99258223">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,36:70:99:1087,0,841:127	0/1:37,49:86:99:1437,0,887:127	0/1:44,48:92:99:1437,0,1096:127
10	99337473	.	T	C	5057.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10786357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10786357" target="_blank">rs10786357</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.169-84T>C;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=ANKRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD2" target="_blank">ANKRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307518;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307518;SAVANT_GENE=ANKRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD2" target="_blank">ANKRD2</a>;SAVANT_INFO=+/11.4kb/9/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.169-84T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD2+c.169-84T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99337473">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,17:17:51:556,51,0:50	1|1:0,24:24:72:739,72,0:50	1|0:9,19:28:99:512,0,246:50
10	99337572	.	G	A	2334.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7094973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7094973" target="_blank">rs7094973</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=61223;ExAC.Info.AN=115086;ExAC.Info.AF=0.532;ExAC.Info.AC_Het=10822;ExAC.Info.AC_Hom=7954;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala62Thr/c.184G>A;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=ANKRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD2" target="_blank">ANKRD2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307518;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307518;SAVANT_GENE=ANKRD2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKRD2" target="_blank">ANKRD2</a>;SAVANT_INFO=+/11.4kb/9/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.184G>A_p.Ala62Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANKRD2+c.184G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99337572">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,17:28:99:399,0,231:127	0/1:14,9:23:99:278,0,349:127	0/1:12,12:24:99:332,0,323:127
10	99361789	.	G	T	1977.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperoxaluria|_primary|_type_III|_613616_(3)|Hyperoxaluria|_primary|_type_III|_613616_(3);dbSNP139.ID=rs115279832;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115279832" target="_blank">rs115279832</a>;ExAC.Info.AC=1629;ExAC.Info.AN=125176;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1048;ExAC.Info.AC_Hom=16;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.345+42G>T;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370649;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.834+42G>T;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=HOGA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370646;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370646:ENST00000370649;SAVANT_GENE=HOGA1:RP11-548K23.11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HOGA1:RP11-548K2311" target="_blank">HOGA1:RP11-548K2311</a>;SAVANT_INFO=+/28.5kb/7/2.5kb:+/89.5kb/10/1.8kb;SAVANT_LOC=In6/7:In2/3;SAVANT_HGVS=c.834+42G>T:c.345+42G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HOGA1:RP11-548K2311+c.834+42G>T:c.345+42G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99361789">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,17:26:99:457,0,262:127	0|0:56,0:56:99:0,168,1989:127	1|0:23,8:31:99:178,0,769:127
10	99376092	.	T	C	6311.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3814555;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814555" target="_blank">rs3814555</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=31289;ExAC.Info.AN=126698;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=22570;ExAC.Info.AC_Hom=4316;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.345+14345T>C;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370649;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgG;snpeff.Amino_Acid_Change=p.Arg181Arg/c.543A>G;snpeff.Amino_Acid_length=204;snpeff.Gene_Name=MORN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335628;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307450:ENST00000370649;SAVANT_GENE=MORN4:RP11-548K23.11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MORN4:RP11-548K2311" target="_blank">MORN4:RP11-548K2311</a>;SAVANT_INFO=-/18.9kb/5/2.3kb:+/89.5kb/10/1.8kb;SAVANT_LOC=Ex5:In2/3;SAVANT_HGVS=c.369A>G_p.=:c.345+14345T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MORN4:RP11-548K2311+c.369A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99376092">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,30:61:99:800,0,777:127	1|1:0,56:56:99:2039,168,0:127	0|0:50,0:50:99:0,150,1655:127
10	99376152	.	A	G	8398.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs3814556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814556" target="_blank">rs3814556</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=32511;ExAC.Info.AN=126682;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=22504;ExAC.Info.AC_Hom=4898;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.345+14405A>G;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370649;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:MORN_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.483A>G;snpeff.Amino_Acid_length=204;snpeff.Gene_Name=MORN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335628;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:MORN_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.483A>G;snpeff.Amino_Acid_length=204;snpeff.Gene_Name=MORN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335628;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro161Pro/c.483T>C;snpeff.Amino_Acid_length=204;snpeff.Gene_Name=MORN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335628;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307450:ENST00000370649;SAVANT_GENE=MORN4:RP11-548K23.11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MORN4:RP11-548K2311" target="_blank">MORN4:RP11-548K2311</a>;SAVANT_INFO=-/18.9kb/5/2.3kb:+/89.5kb/10/1.8kb;SAVANT_LOC=Ex5:In2/3;SAVANT_HGVS=c.309T>C_p.=:c.345+14405A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MORN4:RP11-548K2311+c.309T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99376152">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,44:78:99:1159,0,925:127	1|1:0,80:80:99:2711,240,0:127	0|0:66,0:66:99:0,198,2257:127
10	99393234	.	G	A	4591.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11189303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11189303" target="_blank">rs11189303</a>;ExAC.Info.AC=3336;ExAC.Info.AN=22450;ExAC.Info.AF=0.149;ExAC.Info.AC_Het=2092;ExAC.Info.AC_Hom=245;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.346-17464G>A;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370649;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly37Gly/c.111C>T;snpeff.Amino_Acid_length=204;snpeff.Gene_Name=MORN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335628;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307450:ENST00000370649;SAVANT_GENE=MORN4:RP11-548K23.11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MORN4:RP11-548K2311" target="_blank">MORN4:RP11-548K2311</a>;SAVANT_INFO=-/18.9kb/5/2.3kb:+/89.5kb/10/1.8kb;SAVANT_LOC=5UTR:In2/3;SAVANT_HGVS=c.-13824C>T:c.346-17464G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MORN4:RP11-548K2311+c.-13824C>T:c.346-17464G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99393234">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,29:50:99:838,0,559:127	1|0:27,31:58:99:817,0,785:127	0|0:43,0:43:99:0,129,1483:127
10	99410790	.	T	C	7439.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7915721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7915721" target="_blank">rs7915721</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=33228;ExAC.Info.AN=126704;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=23038;ExAC.Info.AC_Hom=5078;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.528T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.528T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.528T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.528T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.528T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.528T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.528T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.528T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.528T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro176Pro/c.528T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro146Pro/c.438T>C;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370649;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370631:ENST00000370649;SAVANT_GENE=PI4K2A:RP11-548K23.11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A:RP11-548K2311" target="_blank">PI4K2A:RP11-548K2311</a>;SAVANT_INFO=+/35.8kb/9/4.2kb:+/89.5kb/10/1.8kb;SAVANT_LOC=Ex2:Ex3;SAVANT_HGVS=c.528T>C_p.=:c.438T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PI4K2A:RP11-548K2311+c.528T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99410790">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,18:42:99:475,0,700:127	1|1:0,68:68:99:2483,204,0:127	0|0:51,0:51:99:0,153,1933:127
10	99422648	.	A	G	32404.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=814;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7905087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7905087" target="_blank">rs7905087</a>;ExAC.Info.AC=48838;ExAC.Info.AN=126702;ExAC.Info.AF=0.385;ExAC.Info.AC_Het=29052;ExAC.Info.AC_Hom=9868;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.833-16A>G;snpeff.Amino_Acid_length=449;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370649;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.923-16A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PI3K/PI4K];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=PI4K2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A" target="_blank">PI4K2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370631;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370631:ENST00000370649;SAVANT_GENE=PI4K2A:RP11-548K23.11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PI4K2A:RP11-548K2311" target="_blank">PI4K2A:RP11-548K2311</a>;SAVANT_INFO=+/35.8kb/9/4.2kb:+/89.5kb/10/1.8kb;SAVANT_LOC=In4/5:In5/6;SAVANT_HGVS=c.923-16A>G:c.833-16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PI4K2A:RP11-548K2311+c.923-16A>G:c.833-16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99422648">View</a>	GT:AD:DP:GQ:PL:TP	0|1:126,129:255:99:3723,0,3330:127	1|1:0,314:314:99:10891,943,0:127	0|0:245,0:245:99:0,735,8198:127
10	99437822	.	A	G	6399.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3750564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750564" target="_blank">rs3750564</a>;ExAC.Info.AC=55290;ExAC.Info.AN=126666;ExAC.Info.AF=0.437;ExAC.Info.AC_Het=29763;ExAC.Info.AC_Hom=12625;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.288-40T>C;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=AVPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AVPI1" target="_blank">AVPI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370626;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370626;SAVANT_GENE=AVPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AVPI1" target="_blank">AVPI1</a>;SAVANT_INFO=-/9.9kb/3/1.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.288-40T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AVPI1+c.288-40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99437822">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,28:57:99:784,0,764:127	1|1:0,60:60:99:2082,180,0:127	0|0:63,0:63:99:0,189,2119:127
10	99439541	.	G	C	14413.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275047" target="_blank">rs2275047</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=55048;ExAC.Info.AN=126666;ExAC.Info.AF=0.435;ExAC.Info.AC_Het=29688;ExAC.Info.AC_Hom=12265;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gGc;snpeff.Amino_Acid_Change=p.Ala41Gly/c.122C>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=AVPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AVPI1" target="_blank">AVPI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370626;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370626;SAVANT_GENE=AVPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AVPI1" target="_blank">AVPI1</a>;SAVANT_INFO=-/9.9kb/3/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.122C>G_p.Ala41Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AVPI1+c.122C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99439541">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,40:103:99:1138,0,1865:127	1|1:0,135:135:99:4827,406,0:127	0|0:99,0:99:99:0,297,3385:127
10	99439688	.	A	G	5481.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2151930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2151930" target="_blank">rs2151930</a>;ExAC.Info.AC=22151;ExAC.Info.AN=116550;ExAC.Info.AF=0.190;ExAC.Info.AC_Het=5495;ExAC.Info.AC_Hom=973;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-10-16T>C;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=AVPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AVPI1" target="_blank">AVPI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370626;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370626;SAVANT_GENE=AVPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AVPI1" target="_blank">AVPI1</a>;SAVANT_INFO=-/9.9kb/3/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AVPI1+c.-26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99439688">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,20:42:99:538,0,584:123	1|1:0,57:57:99:1961,171,0:123	0|0:41,0:41:99:0,123,1480:123
10	99439703	.	A	T	4781.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11595249;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11595249" target="_blank">rs11595249</a>;ExAC.Info.AC=35569;ExAC.Info.AN=107592;ExAC.Info.AF=0.331;ExAC.Info.AC_Het=4391;ExAC.Info.AC_Hom=1635;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-10-31T>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=AVPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AVPI1" target="_blank">AVPI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370626;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370626;SAVANT_GENE=AVPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AVPI1" target="_blank">AVPI1</a>;SAVANT_INFO=-/9.9kb/3/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-41T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AVPI1+c.-41T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99439703">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,18:30:99:566,0,320:104	1|1:0,51:51:99:1718,153,0:104	0|0:35,0:35:99:0,105,1202:104
10	99439724	.	C	T	3899.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2151931;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2151931" target="_blank">rs2151931</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-10-52G>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=AVPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AVPI1" target="_blank">AVPI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370626;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370626;SAVANT_GENE=AVPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AVPI1" target="_blank">AVPI1</a>;SAVANT_INFO=-/9.9kb/3/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-62G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AVPI1+c.-62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99439724">View</a>	GT:AD:DP:GQ:PL:TP	0|1:6,16:22:99:440,0,170:68	1|1:0,42:42:99:1436,126,0:68	0|0:23,0:23:69:0,69,890:68
10	99498234	.	G	A	29668.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=853;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Spastic_paraplegia_33|_autosomal_dominant|_610244_(3);dbSNP139.ID=rs3818876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818876" target="_blank">rs3818876</a>;ExAC.Info.AC=67441;ExAC.Info.AN=126704;ExAC.Info.AF=0.532;ExAC.Info.AC_Het=29869;ExAC.Info.AC_Hom=18782;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Amino_Acid_Change=c.-1G>A;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356257;SAVANT_GENE=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;SAVANT_INFO=+/22.4kb/12/2.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-1G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFYVE27+c.-1G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99498234">View</a>	GT:AD:DP:GQ:PL:TP	0|1:142,136:278:99:3541,0,4010:127	1|1:0,311:311:99:10527,934,0:127	0|0:264,0:264:99:0,793,9139:127
10	99504630	.	G	T	18790.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=425;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spastic_paraplegia_33|_autosomal_dominant|_610244_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10882993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10882993" target="_blank">rs10882993</a>;ExAC.Info.AC=90045;ExAC.Info.AN=126542;ExAC.Info.AF=0.712;ExAC.Info.AC_Het=22822;ExAC.Info.AC_Hom=30108;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118905;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.413G>T;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.413G>T;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.413G>T;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGt/gTt;snpeff.Amino_Acid_Change=p.Gly138Val/c.413G>T;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356257;SAVANT_GENE=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;SAVANT_INFO=+/22.4kb/12/2.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.413G>T_p.Gly138Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFYVE27+c.413G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99504630">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118905" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:57,65:122:99:1776,0,1649:127	1|1:0,153:153:99:5301,460,0:127	0|1:86,64:150:99:1749,0,2440:127
10	99510068	.	G	T	12167.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spastic_paraplegia_33|_autosomal_dominant|_610244_(3);dbSNP139.ID=rs3750614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750614" target="_blank">rs3750614</a>;ExAC.Info.AC=82293;ExAC.Info.AN=126704;ExAC.Info.AF=0.649;ExAC.Info.AC_Het=26799;ExAC.Info.AC_Hom=27647;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.665-20G>T;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356257;SAVANT_GENE=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;SAVANT_INFO=+/22.4kb/12/2.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.665-20G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFYVE27+c.665-20G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99510068">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,39:83:99:1072,0,1268:127	1|1:0,89:89:99:2961,267,0:127	0|1:38,37:75:99:999,0,1241:127
10	99510284	.	T	C	5679.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Spastic_paraplegia_33|_autosomal_dominant|_610244_(3);dbSNP139.ID=rs3829137;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829137" target="_blank">rs3829137</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.804+57T>C;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356257;SAVANT_GENE=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;SAVANT_INFO=+/22.4kb/12/2.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.804+57T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFYVE27+c.804+57T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99510284">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,23:52:99:646,0,804:127	1|1:0,47:47:99:1661,141,0:127	0|0:56,0:56:99:0,168,2004:127
10	99510331	.	A	G	6761.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spastic_paraplegia_33|_autosomal_dominant|_610244_(3);dbSNP139.ID=rs10786372;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10786372" target="_blank">rs10786372</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.804+104A>G;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356257;SAVANT_GENE=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;SAVANT_INFO=+/22.4kb/12/2.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.804+104A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFYVE27+c.804+104A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99510331">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,24:59:99:677,0,979:127	1|1:0,50:50:99:1745,150,0:127	0|1:38,27:65:99:691,0,1067:127
10	99512472	.	T	C	3487.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spastic_paraplegia_33|_autosomal_dominant|_610244_(3);dbSNP139.ID=rs1538723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1538723" target="_blank">rs1538723</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.892-142T>C;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356257;SAVANT_GENE=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;SAVANT_INFO=+/22.4kb/12/2.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.892-142T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFYVE27+c.892-142T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99512472">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,10:24:99:239,0,446:90	1|1:0,30:30:90:1017,90,0:90	0|1:11,11:22:99:373,0,312:90
10	99517355	.	A	G	14722.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spastic_paraplegia_33|_autosomal_dominant|_610244_(3);dbSNP139.ID=rs3750612;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750612" target="_blank">rs3750612</a>;ExAC.Info.AC=90155;ExAC.Info.AN=126704;ExAC.Info.AF=0.712;ExAC.Info.AC_Het=24228;ExAC.Info.AC_Hom=32955;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1105-44A>G;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105A>G;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105A>G;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105A>G;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1105A>G;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356257;SAVANT_GENE=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;SAVANT_INFO=+/22.4kb/12/2.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1105-44A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFYVE27+c.1105-44A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99517355">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,47:87:99:1372,0,1100:127	1|1:0,116:116:99:4129,349,0:127	0|1:37,34:71:99:899,0,979:127
10	99517616	.	C	A	7756.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spastic_paraplegia_33|_autosomal_dominant|_610244_(3);dbSNP139.ID=rs11189359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11189359" target="_blank">rs11189359</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1186+136C>A;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1187C>A;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1187C>A;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1187C>A;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1187C>A;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356257;SAVANT_GENE=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;SAVANT_INFO=+/22.4kb/12/2.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1186+136C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFYVE27+c.1186+136C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99517616">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,35:75:99:852,0,1087:127	1|1:0,57:57:99:1838,171,0:127	0|1:44,43:87:99:1051,0,1186:127
10	99518901	.	G	C	8554.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spastic_paraplegia_33|_autosomal_dominant|_610244_(3);dbSNP139.ID=rs12412543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12412543" target="_blank">rs12412543</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1187-92G>C;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1187G>C;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1187G>C;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1187G>C;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:FYVE-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1187G>C;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356257;SAVANT_GENE=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;SAVANT_INFO=+/22.4kb/12/2.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1187-92G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFYVE27+c.1187-92G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99518901">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,25:52:99:805,0,778:127	1|1:0,61:61:99:2240,183,0:127	0|1:17,23:40:99:770,0,521:127
10	99519097	.	A	G	12282.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spastic_paraplegia_33|_autosomal_dominant|_610244_(3);dbSNP139.ID=rs1981237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1981237" target="_blank">rs1981237</a>;ExAC.Info.AC=92465;ExAC.Info.AN=126698;ExAC.Info.AF=0.730;ExAC.Info.AC_Het=23444;ExAC.Info.AC_Hom=34226;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=40;snpeff.Amino_Acid_Change=c.*40A>G;snpeff.Amino_Acid_length=416;snpeff.Gene_Name=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356257;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356257;SAVANT_GENE=ZFYVE27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFYVE27" target="_blank">ZFYVE27</a>;SAVANT_INFO=+/22.4kb/12/2.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*40A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFYVE27+c.*40A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99519097">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,43:80:99:1312,0,926:127	1|1:0,87:87:99:3287,261,0:127	0|1:38,37:75:99:1118,0,1070:127
10	99563198	.	T	C	1514.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11189381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11189381" target="_blank">rs11189381</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11189381" target="_blank">rs11189381</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99563198">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2253:127	0|0:107,0:107:99:0,321,3525:127	0|1:39,29:68:99:776,0,1213:127
10	99610109	.	T	C	554.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs111519319;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111519319" target="_blank">rs111519319</a>;ExAC.Info.AC=254;ExAC.Info.AN=83426;ExAC.Info.AF=3.045e-03;ExAC.Info.AC_Het=64;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.12+37T>C;snpeff.Amino_Acid_length=167;snpeff.Gene_Name=GOLGA7B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLGA7B" target="_blank">GOLGA7B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370602;SAVANT_GENE=GOLGA7B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLGA7B" target="_blank">GOLGA7B</a>;SAVANT_INFO=+/17.8kb/5/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.12+37T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GOLGA7B+c.12+37T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99610109">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,466:41	0|1:18,12:30:99:296,0,485:41	0|0:18,0:18:54:0,54,613:41
10	99625319	.	C	T	10888.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56007204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56007204" target="_blank">rs56007204</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=18869;ExAC.Info.AN=126700;ExAC.Info.AF=0.149;ExAC.Info.AC_Het=15190;ExAC.Info.AC_Hom=1799;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.394-28C>T;snpeff.Amino_Acid_length=167;snpeff.Gene_Name=GOLGA7B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLGA7B" target="_blank">GOLGA7B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu658Lys/c.1972G>A;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=CRTAC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLGA7B" target="_blank">GOLGA7B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370597;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370602:ENST00000370597;SAVANT_GENE=GOLGA7B:CRTAC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GOLGA7B:CRTAC1" target="_blank">GOLGA7B:CRTAC1</a>;SAVANT_INFO=+/17.8kb/5/2.9kb:-/165.8kb/15/2.9kb;SAVANT_LOC=In4/5:Ex15;SAVANT_HGVS=c.394-28C>T:c.1972G>A_p.Glu658Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GOLGA7B:CRTAC1+c.394-28C>T:c.1972G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99625319">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,53:112:99:1412,0,1529:127	0/1:57,63:120:99:1686,0,1541:127	0/1:47,50:97:99:1329,0,1279:127
10	99696003	.	G	A	1730.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs35027739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35027739" target="_blank">rs35027739</a>;ExAC.Info.AC=21382;ExAC.Info.AN=126700;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=17032;ExAC.Info.AC_Hom=2160;snpeff.Effect=sequence_feature[repeat:FG-GAP_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.345G>A;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=CRTAC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRTAC1" target="_blank">CRTAC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370597;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:FG-GAP_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.345G>A;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=CRTAC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRTAC1" target="_blank">CRTAC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370597;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile115Ile/c.345C>T;snpeff.Amino_Acid_length=661;snpeff.Gene_Name=CRTAC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRTAC1" target="_blank">CRTAC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370597;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370597;SAVANT_GENE=CRTAC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRTAC1" target="_blank">CRTAC1</a>;SAVANT_INFO=-/165.8kb/15/2.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.345C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRTAC1+c.345C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99696003">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2174:127	0|0:90,0:90:99:0,270,2860:127	0|1:23,30:53:99:884,0,578:127
10	99969475	.	A	C	4742.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=520;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34494334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34494334" target="_blank">rs34494334</a>;ExAC.Info.AC=21898;ExAC.Info.AN=126694;ExAC.Info.AF=0.173;ExAC.Info.AC_Het=17484;ExAC.Info.AC_Hom=2201;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gCc;snpeff.Amino_Acid_Change=p.Asp535Ala/c.1604A>C;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=R3HCC1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=R3HCC1L" target="_blank">R3HCC1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370584;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298999;SAVANT_GENE=C10orf28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf28" target="_blank">C10orf28</a>;SAVANT_INFO=+/110.2kb/10/3.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1604A>C_p.Asp535Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf28+c.1604A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99969475">View</a>	GT:AD:DP:GQ:PL:TP	0|0:172,0:172:99:0,516,5592:127	0|0:182,0:182:99:0,547,6412:127	0|1:87,79:166:99:2390,0,2375:127
10	99969507	.	C	T	10758.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35122894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35122894" target="_blank">rs35122894</a>;ExAC.Info.AC=2785;ExAC.Info.AN=126702;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2689;ExAC.Info.AC_Hom=48;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro546Ser/c.1636C>T;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=R3HCC1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=R3HCC1L" target="_blank">R3HCC1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370584;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298999;SAVANT_GENE=C10orf28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf28" target="_blank">C10orf28</a>;SAVANT_INFO=+/110.2kb/10/3.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1636C>T_p.Pro546Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf28+c.1636C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99969507">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,75:136:99:2189,0,1890:127	1|0:69,78:147:99:2340,0,2104:127	0|0:124,0:124:99:0,372,4646:127
10	99969568	.	A	G	7782.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11189513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11189513" target="_blank">rs11189513</a>;ExAC.Info.AC=40822;ExAC.Info.AN=126704;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=26901;ExAC.Info.AC_Hom=6953;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His566Arg/c.1697A>G;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=R3HCC1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=R3HCC1L" target="_blank">R3HCC1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370584;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298999;SAVANT_GENE=C10orf28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf28" target="_blank">C10orf28</a>;SAVANT_INFO=+/110.2kb/10/3.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1697A>G_p.His566Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf28+c.1697A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99969568">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,47:108:99:1177,0,1673:127	0|0:125,1:126:99:0,342,4233:127	1|0:57,58:115:99:1761,0,1644:127
10	99991408	.	A	G	17787.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1952061;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1952061" target="_blank">rs1952061</a>;ExAC.Info.AC=126342;ExAC.Info.AN=126684;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=334;ExAC.Info.AC_Hom=62939;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His642Arg/c.1925A>G;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=R3HCC1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=R3HCC1L" target="_blank">R3HCC1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370584;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298999;SAVANT_GENE=C10orf28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf28" target="_blank">C10orf28</a>;SAVANT_INFO=+/110.2kb/10/3.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1925A>G_p.His642Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf28+c.1925A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99991408">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1840,153,0:127	1|1:0,83:83:99:2971,250,0:127	1|1:0,78:78:99:2754,234,0:127
10	99995773	.	C	T	1716.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61875307;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61875307" target="_blank">rs61875307</a>;ExAC.Info.AC=21855;ExAC.Info.AN=126686;ExAC.Info.AF=0.173;ExAC.Info.AC_Het=17457;ExAC.Info.AC_Hom=2178;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2129-8C>T;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=R3HCC1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=R3HCC1L" target="_blank">R3HCC1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370584;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2129C>T;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=R3HCC1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=R3HCC1L" target="_blank">R3HCC1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370584;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298999;SAVANT_GENE=C10orf28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf28" target="_blank">C10orf28</a>;SAVANT_INFO=+/110.2kb/10/3.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.2129-8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf28+c.2129-8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:99995773">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1418:120	0|0:73,0:73:99:0,219,2411:120	0|1:18,29:47:99:877,0,463:120
10	100003785	.	T	C	7800.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1359508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1359508" target="_blank">rs1359508</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2270-63T>C;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=R3HCC1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=R3HCC1L" target="_blank">R3HCC1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370584;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298999;SAVANT_GENE=C10orf28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf28" target="_blank">C10orf28</a>;SAVANT_INFO=+/110.2kb/10/3.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.2270-63T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf28+c.2270-63T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100003785">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,56:104:99:1706,0,1497:127	1|0:67,57:124:99:1849,0,2035:127	0|0:105,0:105:99:0,315,3832:127
10	100011526	.	T	C	1010.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72828469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72828469" target="_blank">rs72828469</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1952-67A>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[cross-link:Lysine_tyrosylquinone__Lys-Tyr_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[cross-link:Lysine_tyrosylquinone__Lys-Tyr_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Lysyl-oxidase_like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Lysyl-oxidase_like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Lysyl-oxidase_like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Lysyl-oxidase_like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Lysyl-oxidase_like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1952T>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260702;SAVANT_GENE=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;SAVANT_INFO=-/20.6kb/15/3.7kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1952-67A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LOXL4+c.1952-67A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100011526">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1156:98	0|1:22,17:39:99:524,0,611:98	0|0:35,0:35:99:0,105,1174:98
10	100013438	.	C	T	2478.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17524355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17524355" target="_blank">rs17524355</a>;ExAC.Info.AC=21668;ExAC.Info.AN=126704;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=17320;ExAC.Info.AC_Hom=2163;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.180+1479C>T;snpeff.Gene_Name=RP11-34A14.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433374;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Lysyl-oxidase_like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1707C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Lysyl-oxidase_like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1707C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Lysyl-oxidase_like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1707C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Lysyl-oxidase_like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1707C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Lysyl-oxidase_like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1707C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala569Ala/c.1707G>A;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260702;SAVANT_GENE=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;SAVANT_INFO=-/20.6kb/15/3.7kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1707G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LOXL4+c.1707G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100013438">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,318,3380:127	0|0:143,0:143:99:0,429,4963:127	0|1:49,44:93:99:1258,0,1365:127
10	100015563	.	G	C	2220.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3763688;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3763688" target="_blank">rs3763688</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.399G>C;snpeff.Gene_Name=RP11-34A14.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433374;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1429-67C>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429G>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429G>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429G>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429G>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34A143" target="_blank">RP11-34A143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260702;SAVANT_GENE=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;SAVANT_INFO=-/20.6kb/15/3.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1429-67C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LOXL4+c.1429-67C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100015563">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2632:127	0|1:57,40:97:99:1129,0,1615:127	0|0:76,0:76:99:0,228,2527:127
10	100017453	.	T	G	15916.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=749;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1983864;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1983864" target="_blank">rs1983864</a>;ExAC.Info.AC=47342;ExAC.Info.AN=126704;ExAC.Info.AF=0.374;ExAC.Info.AC_Het=27559;ExAC.Info.AC_Hom=9881;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1214T>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1214T>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1214T>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1214T>G;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gCt;snpeff.Amino_Acid_Change=p.Asp405Ala/c.1214A>C;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260702;SAVANT_GENE=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;SAVANT_INFO=-/20.6kb/15/3.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1214A>C_p.Asp405Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LOXL4+c.1214A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100017453">View</a>	GT:AD:DP:GQ:PL:TP	1|0:146,112:258:99:2927,0,3729:127	0|0:288,0:288:99:0,865,9389:127	1|0:96,107:203:99:3098,0,2612:127
10	100018844	.	G	A	2408.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=63;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7077073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7077073" target="_blank">rs7077073</a>;ExAC.Info.AC=58730;ExAC.Info.AN=125472;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=22097;ExAC.Info.AC_Hom=11516;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.843G>A;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.843G>A;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.843G>A;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.843G>A;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.843G>A;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.843G>A;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His281His/c.843C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260702;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260702;SAVANT_GENE=LOXL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LOXL4" target="_blank">LOXL4</a>;SAVANT_INFO=-/20.6kb/15/3.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.843C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LOXL4+c.843C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100018844">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,8:19:99:215,0,315:127	0/1:15,7:22:99:181,0,509:127	0/1:8,14:22:99:446,0,242:127
10	100186895	.	G	A	9701.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_1|_203300_(3)|Hermansky-Pudlak_syndrome_1|_203300_(3);dbSNP139.ID=rs4919225;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4919225" target="_blank">rs4919225</a>;ExAC.Info.AC=586;ExAC.Info.AN=70934;ExAC.Info.AF=8.261e-03;ExAC.Info.AC_Het=363;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.987+77C>T;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325103;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325103;SAVANT_GENE=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;SAVANT_INFO=-/30.7kb/20/3.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.987+77C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS1+c.987+77C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100186895">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,56:121:99:1301,0,1813:127	1|0:62,73:135:99:2083,0,1677:127	0|0:110,0:110:99:0,331,3748:127
10	100189242	.	G	A	11267.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_1|_203300_(3)|Hermansky-Pudlak_syndrome_1|_203300_(3);dbSNP139.ID=rs34533614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34533614" target="_blank">rs34533614</a>;ExAC.Info.AC=17200;ExAC.Info.AN=126644;ExAC.Info.AF=0.136;ExAC.Info.AC_Het=13662;ExAC.Info.AC_Hom=1002;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.937+88C>T;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325103;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325103;SAVANT_GENE=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;SAVANT_INFO=-/30.7kb/20/3.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.937+88C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS1+c.937+88C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100189242">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2253,168,0:127	1|0:30,40:70:99:1206,0,890:127	1|0:26,23:49:99:886,0,772:127
10	100189252	.	G	A	3842.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_1|_203300_(3)|Hermansky-Pudlak_syndrome_1|_203300_(3);dbSNP139.ID=rs1061134;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061134" target="_blank">rs1061134</a>;ExAC.Info.AC=13415;ExAC.Info.AN=126652;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=11534;ExAC.Info.AC_Hom=665;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.937+78C>T;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325103;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325103;SAVANT_GENE=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;SAVANT_INFO=-/30.7kb/20/3.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.937+78C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS1+c.937+78C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100189252">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,32:58:99:892,0,803:127	0|0:77,0:77:99:0,234,3641:127	1|0:30,26:56:99:710,0,1602:127
10	100190264	.	T	C	11040.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_1|_203300_(3)|Hermansky-Pudlak_syndrome_1|_203300_(3);dbSNP139.ID=rs2296431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296431" target="_blank">rs2296431</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.768+64A>G;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325103;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325103;SAVANT_GENE=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;SAVANT_INFO=-/30.7kb/20/3.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.768+64A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS1+c.768+64A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100190264">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,35:76:99:1030,0,1065:127	1|1:0,81:81:99:2850,243,0:127	0|1:47,28:75:99:787,0,1234:127
10	100190920	.	G	A	14556.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_1|_203300_(3)|Hermansky-Pudlak_syndrome_1|_203300_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1801287;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801287" target="_blank">rs1801287</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=39664;ExAC.Info.AN=126686;ExAC.Info.AF=0.313;ExAC.Info.AC_Het=26448;ExAC.Info.AC_Hom=6472;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu212Leu/c.636C>T;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325103;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325103;SAVANT_GENE=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;SAVANT_INFO=-/30.7kb/20/3.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.636C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS1+c.636C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100190920">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,56:123:99:1448,0,1759:127	1|1:0,133:133:99:4562,400,0:127	0|0:105,0:105:99:0,315,3523:127
10	100193679	.	G	C	30459.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=613;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_1|_203300_(3)|Hermansky-Pudlak_syndrome_1|_203300_(3);dbSNP139.ID=rs1886728;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1886728" target="_blank">rs1886728</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.507+61C>G;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325103;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325103;SAVANT_GENE=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;SAVANT_INFO=-/30.7kb/20/3.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.507+61C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS1+c.507+61C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100193679">View</a>	GT:AD:DP:GQ:PL:TP	0|1:90,70:160:99:1892,0,2575:127	1|1:0,261:261:99:9245,784,0:127	0|1:117,75:192:99:2019,0,3489:127
10	100193883	.	C	T	944.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_1|_203300_(3)|Hermansky-Pudlak_syndrome_1|_203300_(3);dbSNP139.ID=rs11591594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11591594" target="_blank">rs11591594</a>;ExAC.Info.AC=4494;ExAC.Info.AN=57722;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=2339;ExAC.Info.AC_Hom=282;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.399-35G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325103;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325103;SAVANT_GENE=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;SAVANT_INFO=-/30.7kb/20/3.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.399-35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS1+c.399-35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100193883">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1814:127	0|0:82,0:82:99:0,247,3135:127	0|1:30,18:48:99:491,0,1008:127
10	100193958	.	A	G	1064.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_1|_203300_(3)|Hermansky-Pudlak_syndrome_1|_203300_(3);dbSNP139.ID=rs10748731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10748731" target="_blank">rs10748731</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.399-110T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325103;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325103;SAVANT_GENE=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;SAVANT_INFO=-/30.7kb/20/3.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.399-110T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS1+c.399-110T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100193958">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,916:89	0|0:52,0:52:99:0,156,1719:89	0|1:18,21:39:99:551,0,413:89
10	100195583	.	T	A	2752.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_1|_203300_(3)|Hermansky-Pudlak_syndrome_1|_203300_(3);dbSNP139.ID=rs2296430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296430" target="_blank">rs2296430</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.118-54A>T;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325103;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325103;SAVANT_GENE=HPS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS1" target="_blank">HPS1</a>;SAVANT_INFO=-/30.7kb/20/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.118-54A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS1+c.118-54A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100195583">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,3065:127	0|0:96,0:96:99:0,289,3397:127	0|1:45,48:93:99:1395,0,1196:127
10	100219374	.	T	A	4954.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Urofacial_syndrome_1|_236730_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10883100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10883100" target="_blank">rs10883100</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=63796;ExAC.Info.AN=126702;ExAC.Info.AF=0.504;ExAC.Info.AC_Het=31323;ExAC.Info.AC_Hom=16205;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAt/tTt;snpeff.Amino_Acid_Change=p.Tyr579Phe/c.1736A>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370552;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370552;SAVANT_GENE=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;SAVANT_INFO=-/776.7kb/12/2.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1736A>T_p.Tyr579Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPSE2+c.1736A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100219374">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,30:64:99:855,0,948:127	0|0:81,0:81:99:0,243,2841:127	1|0:42,30:72:99:864,0,1301:127
10	100219519	.	G	A	3110.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Urofacial_syndrome_1|_236730_(3);dbSNP139.ID=rs11189618;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11189618" target="_blank">rs11189618</a>;ExAC.Info.AC=61442;ExAC.Info.AN=126306;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=27003;ExAC.Info.AC_Hom=12624;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1614-23C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370552;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370552;SAVANT_GENE=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;SAVANT_INFO=-/776.7kb/12/2.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1614-23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPSE2+c.1614-23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100219519">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,25:43:99:671,0,512:127	0|0:60,0:60:99:0,180,2113:127	1|0:20,21:41:99:623,0,582:127
10	100242345	.	C	G	1902.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Urofacial_syndrome_1|_236730_(3);dbSNP139.ID=rs1932800;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1932800" target="_blank">rs1932800</a>;ExAC.Info.AC=26092;ExAC.Info.AN=126700;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=18656;ExAC.Info.AC_Hom=3715;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1613+48G>C;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370552;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370552;SAVANT_GENE=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;SAVANT_INFO=-/776.7kb/12/2.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1613+48G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPSE2+c.1613+48G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100242345">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,213,2639:127	0|0:74,0:74:99:0,223,2980:127	0|1:26,28:54:99:970,0,821:127
10	100250019	.	GACACACACAC	G	2789.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=31;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Urofacial_syndrome_1|_236730_(3);dbSNP139.ID=rs59184373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59184373" target="_blank">rs59184373</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1321-76_1321-67delGTGTGTGTGT;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370552;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370552;SAVANT_GENE=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;SAVANT_INFO=-/776.7kb/12/2.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1321-76_1321-67del10;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPSE2+c.1321-76_1321-67del10+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100250019">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,9:9:27:353,27,0:22	1|1:0,7:7:22:282,22,0:22	1|1:0,15:15:46:618,46,0:22
10	100401745	.	T	C	8990.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=443;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Urofacial_syndrome_1|_236730_(3);dbSNP139.ID=rs693656;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=693656" target="_blank">rs693656</a>;ExAC.Info.AC=36888;ExAC.Info.AN=126610;ExAC.Info.AF=0.291;ExAC.Info.AC_Het=23861;ExAC.Info.AC_Hom=6341;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1005-48A>G;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370552;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370552;SAVANT_GENE=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;SAVANT_INFO=-/776.7kb/12/2.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1005-48A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPSE2+c.1005-48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100401745">View</a>	GT:AD:DP:GQ:PL:TP	0|0:147,0:147:99:0,442,5306:127	0|1:106,78:184:99:2476,0,3337:127	0|1:53,59:112:99:2039,0,1696:127
10	100995263	.	G	A	11049.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=509;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Urofacial_syndrome_1|_236730_(3);dbSNP139.ID=rs72840396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72840396" target="_blank">rs72840396</a>;ExAC.Info.AC=203;ExAC.Info.AN=126702;ExAC.Info.AF=1.602e-03;ExAC.Info.AC_Het=201;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.290+7C>T;snpeff.Amino_Acid_length=592;snpeff.Gene_Name=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370552;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370552;SAVANT_GENE=HPSE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPSE2" target="_blank">HPSE2</a>;SAVANT_INFO=-/776.7kb/12/2.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.290+7C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPSE2+c.290+7C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:100995263">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,68:149:99:1763,0,2394:127	0|0:191,0:191:99:0,574,6961:127	1|0:84,85:169:99:2374,0,2359:127
10	101090428	.	T	G	21574.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2862600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2862600" target="_blank">rs2862600</a>;ExAC.Info.AC=106047;ExAC.Info.AN=126436;ExAC.Info.AF=0.839;ExAC.Info.AC_Het=16467;ExAC.Info.AC_Hom=44716;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtG;snpeff.Amino_Acid_Change=p.Val428Val/c.1284T>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=CNNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM1" target="_blank">CNNM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356713;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356713;SAVANT_GENE=CNNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM1" target="_blank">CNNM1</a>;SAVANT_INFO=+/65.2kb/11/6.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1284T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNNM1+c.1284T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101090428">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2706,234,0:127	1|1:0,88:88:99:3314,265,0:127	1|1:0,85:85:99:3189,256,0:127
10	101124157	.	CT	C	32.11	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs368559277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=368559277" target="_blank">rs368559277</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2029-16delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=CNNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM1" target="_blank">CNNM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356713;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000356713;SAVANT_GENE=CNNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM1" target="_blank">CNNM1</a>;SAVANT_INFO=+/65.2kb/11/6.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.2029-5delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNNM1+c.2029-5delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101124157">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,7:40:74:74,0,810:24	1|0:51,5:56:0:0,48,1303:24	0|0:64,4:68:92:0,92,1607:24
10	101128362	.	C	A	17459.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1049;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17568778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17568778" target="_blank">rs17568778</a>;ExAC.Info.AC=757;ExAC.Info.AN=20198;ExAC.Info.AF=0.037;ExAC.Info.AC_Het=608;ExAC.Info.AC_Hom=23;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2176+3603C>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=CNNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM1" target="_blank">CNNM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356713;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356713;SAVANT_GENE=CNNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM1" target="_blank">CNNM1</a>;SAVANT_INFO=+/65.2kb/11/6.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.2176+3603C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNNM1+c.2176+3603C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101128362">View</a>	GT:AD:DP:GQ:PL:TP	0|1:173,118:291:99:3038,0,4864:127	1|0:227,165:392:99:4258,0,6484:127	0|0:366,0:366:99:0,1100,12689:127
10	101147692	.	G	A	5922.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2298316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298316" target="_blank">rs2298316</a>;ExAC.Info.AC=8971;ExAC.Info.AN=126384;ExAC.Info.AF=0.071;ExAC.Info.AC_Het=8031;ExAC.Info.AC_Hom=448;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg819Gln/c.2456G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=CNNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM1" target="_blank">CNNM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356713;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356713;SAVANT_GENE=CNNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM1" target="_blank">CNNM1</a>;SAVANT_INFO=+/65.2kb/11/6.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.2456G>A_p.Arg819Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNNM1+c.2456G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101147692">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,46:82:99:1215,0,1007:127	0|0:83,0:83:99:0,249,2846:127	1|0:40,34:74:99:973,0,1203:127
10	101147720	.	C	T	4821.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17490682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17490682" target="_blank">rs17490682</a>;ExAC.Info.AC=4057;ExAC.Info.AN=126356;ExAC.Info.AF=0.032;ExAC.Info.AC_Het=3806;ExAC.Info.AC_Hom=107;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp828Asp/c.2484C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=CNNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM1" target="_blank">CNNM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356713;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356713;SAVANT_GENE=CNNM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM1" target="_blank">CNNM1</a>;SAVANT_INFO=+/65.2kb/11/6.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.2484C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNNM1+c.2484C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101147720">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,28:83:99:660,0,1601:127	1|0:44,40:84:99:1062,0,1425:127	0|0:80,0:80:99:0,240,2915:127
10	101190507	.	G	A	1076.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Aspartate_aminotransferase|_serum_level_of|_QTL1|_614419_(3);dbSNP139.ID=rs12253861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12253861" target="_blank">rs12253861</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12253861" target="_blank">rs12253861</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101190507">View</a>	GT:AD:DP:GQ:PL:TP	0|0:16,0:16:48:0,48,649:48	0|1:11,11:22:99:329,0,354:48	0|1:9,8:17:99:229,0,321:48
10	101293035	.	C	A	6954.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=313;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs41290504;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41290504" target="_blank">rs41290504</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=66784;ExAC.Info.AN=125372;ExAC.Info.AF=0.533;ExAC.Info.AC_Het=30579;ExAC.Info.AC_Hom=17813;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcA;snpeff.Amino_Acid_Change=p.Ala49Ala/c.147C>A;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=NKX2-3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NKX2-3" target="_blank">NKX2-3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344586;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344586;SAVANT_GENE=NKX2-3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NKX2-3" target="_blank">NKX2-3</a>;SAVANT_INFO=+/3.6kb/2/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.147C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NKX2-3+c.147C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101293035">View</a>	GT:AD:DP:GQ:PL:TP	0|0:102,0:102:99:0,307,3454:127	0|1:62,52:114:99:1533,0,1864:127	0|1:38,59:97:99:1964,0,1065:127
10	101445591	.	A	C	7263.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3);dbSNP139.ID=rs3740078;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740078" target="_blank">rs3740078</a>;ExAC.Info.AC=33776;ExAC.Info.AN=126704;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=24224;ExAC.Info.AC_Hom=4764;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro197Pro/c.591A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370489;SAVANT_GENE=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;SAVANT_INFO=+/46.7kb/13/3.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.591A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENTPD7+c.591A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101445591">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,48:97:99:1299,0,1257:127	1|0:66,49:115:99:1326,0,1908:127	0|0:99,0:99:99:0,297,3375:127
10	101451194	.	A	C	1052.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3);dbSNP139.ID=rs72832512;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72832512" target="_blank">rs72832512</a>;ExAC.Info.AC=3593;ExAC.Info.AN=126704;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=3444;ExAC.Info.AC_Hom=74;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtC;snpeff.Amino_Acid_Change=p.Val254Val/c.762A>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370489;SAVANT_GENE=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;SAVANT_INFO=+/46.7kb/13/3.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.762A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENTPD7+c.762A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101451194">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1573:127	0|1:29,23:52:99:544,0,836:127	0|0:58,0:58:99:0,174,1828:127
10	101451259	.	T	C	2795.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11190245;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11190245" target="_blank">rs11190245</a>;ExAC.Info.AC=32571;ExAC.Info.AN=126698;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=23482;ExAC.Info.AC_Hom=4519;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gCc;snpeff.Amino_Acid_Change=p.Val276Ala/c.827T>C;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370489;SAVANT_GENE=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;SAVANT_INFO=+/46.7kb/13/3.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.827T>C_p.Val276Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENTPD7+c.827T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101451259">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,15:32:99:473,0,428:127	1|0:17,24:41:99:730,0,471:127	0|0:54,0:54:99:0,162,1844:127
10	101458254	.	G	GTGTT	2515.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1011-36_1011-35insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011_1012insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011_1012insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011_1012insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011_1012insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011_1012insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011_1012insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011_1012insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011_1012insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011_1012insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011_1012insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1011_1012insTGTT;snpeff.Amino_Acid_length=604;snpeff.Gene_Name=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370489;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370489;SAVANT_GENE=ENTPD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENTPD7" target="_blank">ENTPD7</a>;SAVANT_INFO=+/46.7kb/13/3.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1011-19_1011-16dupGTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENTPD7+c.1011-19_1011-16dupGTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101458254">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,224,3704:127	0|1:48,35:83:99:1281,0,2297:127	0|0:72,0:72:99:0,219,3627:127
10	101473218	.	A	G	36666.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=573;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2231687;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2231687" target="_blank">rs2231687</a>;ExAC.Info.AC=108926;ExAC.Info.AN=126676;ExAC.Info.AF=0.860;ExAC.Info.AC_Het=14816;ExAC.Info.AC_Hom=46801;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COX15" target="_blank">COX15</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CUTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COX15" target="_blank">COX15</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COX15" target="_blank">COX15</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=COX15+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101473218">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,153:153:99:5659,460,0:127	1|1:0,208:208:99:7972,625,0:127	1|0:106,106:212:99:3294,0,3379:127
10	101474499	.	T	C	5670.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3);dbSNP139.ID=rs11190255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11190255" target="_blank">rs11190255</a>;ExAC.Info.AC=32680;ExAC.Info.AN=126704;ExAC.Info.AF=0.258;ExAC.Info.AC_Het=23557;ExAC.Info.AC_Hom=4539;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CUTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1102-24A>G;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016171;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102T>C;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016171;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1102T>C;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016171;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000016171;SAVANT_GENE=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COX15" target="_blank">COX15</a>;SAVANT_INFO=-/18.6kb/9/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1102-24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COX15+c.1102-24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101474499">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,37:61:99:1218,0,623:127	1|0:36,40:76:99:1360,0,1116:127	0|0:79,0:79:99:0,238,2787:127
10	101478000	.	T	TC	20601.71	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3);dbSNP139.ID=rs3215694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3215694" target="_blank">rs3215694</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CUTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.987+103_987+102insG;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016171;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.988_989insC;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016171;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.988_989insC;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016171;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000016171;SAVANT_GENE=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COX15" target="_blank">COX15</a>;SAVANT_INFO=-/18.6kb/9/2.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.987+102dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=COX15+c.987+102dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101478000">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3489,295,0:127	1|1:0,116:116:99:4170,355,0:127	1|0:50,46:96:99:1414,0,1488:127
10	101486644	.	C	CA	624.01	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3);dbSNP139.ID=rs5787356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5787356" target="_blank">rs5787356</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CUTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.582+81_582+80insT;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016171;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.583_584insA;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016171;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.583_584insA;snpeff.Amino_Acid_length=410;snpeff.Gene_Name=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016171;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000016171;SAVANT_GENE=COX15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COX15" target="_blank">COX15</a>;SAVANT_INFO=-/18.6kb/9/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.582+80dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=COX15+c.582+80dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101486644">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,10:18:69:114,0,69:37	0/1:7,6:13:38:76,0,38:37	0/1:13,8:21:46:46,0,140:37
10	101499513	.	T	G	7959.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=727;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3);dbSNP139.ID=rs72832531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72832531" target="_blank">rs72832531</a>;ExAC.Info.AC=1;ExAC.Info.AN=126704;ExAC.Info.AF=7.892e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acG;snpeff.Amino_Acid_Change=p.Thr60Thr/c.180T>G;snpeff.Amino_Acid_length=273;snpeff.Gene_Name=CUTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370476;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370476;SAVANT_GENE=CUTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;SAVANT_INFO=+/23.9kb/9/1.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.180T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUTC+c.180T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101499513">View</a>	GT:AD:DP:GQ:PL:TP	0|0:212,0:212:99:0,637,6971:127	0|1:121,137:258:99:3995,0,3494:127	0|0:257,0:257:99:0,771,8810:127
10	101502968	.	A	G	4970.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=621;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3)|Leigh_syndrome_due_to_cytochrome_c_oxidase_deficiency|_256000_(3)|_Cardioencephalomyopathy|_fatal_infantile|_due_to_cytochrome_c_oxidase_deficiency_2|_615119_(3);dbSNP139.ID=rs3740076;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740076" target="_blank">rs3740076</a>;ExAC.Info.AC=12239;ExAC.Info.AN=126704;ExAC.Info.AF=0.097;ExAC.Info.AC_Het=10845;ExAC.Info.AC_Hom=697;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.252A>G;snpeff.Amino_Acid_length=273;snpeff.Gene_Name=CUTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370476;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro84Pro/c.252A>G;snpeff.Amino_Acid_length=273;snpeff.Gene_Name=CUTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370476;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370476;SAVANT_GENE=CUTC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUTC" target="_blank">CUTC</a>;SAVANT_INFO=+/23.9kb/9/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.252A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUTC+c.252A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101502968">View</a>	GT:AD:DP:GQ:PL:TP	0|0:183,0:183:99:0,549,6160:127	0|1:137,93:230:99:2500,0,3698:127	0|0:208,0:208:99:0,625,6902:127
10	101541053	.	A	G	30489.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=814;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1885301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1885301" target="_blank">rs1885301</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1885301" target="_blank">rs1885301</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101541053">View</a>	GT:AD:DP:GQ:PL:TP	0|1:128,126:254:99:3319,0,3220:127	1|1:0,306:306:99:10779,919,0:127	0|0:254,0:254:99:0,762,8053:127
10	101541583	.	A	G	6611.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2804402;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2804402" target="_blank">rs2804402</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2804402" target="_blank">rs2804402</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101541583">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,21:55:99:557,0,966:127	0|0:74,0:74:99:0,222,2342:127	1|1:0,59:59:99:2118,177,0:127
10	101542578	.	C	T	3730.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbSNP139.ID=rs717620;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=717620" target="_blank">rs717620</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Non-response_to_antiepilepsy_medication_in_epileptics|_association;hgmd_2014.2.OMIM_ID=601107;hgmd_2014.2.PubMed=19415824;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19415824" target="_blank">19415824</a>;ExAC.Info.AC=21439;ExAC.Info.AN=126700;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=17381;ExAC.Info.AC_Hom=1999;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=24;snpeff.Amino_Acid_Change=c.-24C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-24C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.-24C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101542578">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,313,3697:127	0|0:151,0:151:99:0,454,5418:127	0|1:64,63:127:99:1884,0,1949:127
10	101544447	.	A	T	39340.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=528;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs927344;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=927344" target="_blank">rs927344</a>;ExAC.Info.AC=126463;ExAC.Info.AN=126704;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=235;ExAC.Info.AC_Hom=63114;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.116A>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAc/tTc;snpeff.Amino_Acid_Change=p.Tyr39Phe/c.116A>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.116A>T_p.Tyr39Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.116A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101544447">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,194:194:99:6208,582,0:127	1|1:0,188:188:99:6640,567,0:127	1|1:0,146:146:99:5339,439,0:127
10	101563815	.	G	A	6644.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=665;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2273697;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273697" target="_blank">rs2273697</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_mRNA_expression;hgmd_2014.2.OMIM_ID=601107;hgmd_2014.2.PubMed=15821043;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15821043" target="_blank">15821043</a>;ExAC.Info.AC=24652;ExAC.Info.AN=126702;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=19556;ExAC.Info.AC_Hom=2542;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1249G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1249G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1249G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1249G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1249G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1249G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1249G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1249G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val417Ile/c.1249G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1249G>A_p.Val417Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.1249G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101563815">View</a>	GT:AD:DP:GQ:PL:TP	0|0:178,0:178:99:0,535,6125:127	0|1:111,121:232:99:3341,0,3110:127	0|0:254,1:255:99:0,727,8604:127
10	101578952	.	T	G	4848.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=572;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17222617;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17222617" target="_blank">rs17222617</a>;ExAC.Info.AC=1844;ExAC.Info.AN=126704;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1801;ExAC.Info.AC_Hom=21;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cGg;snpeff.Amino_Acid_Change=p.Leu849Arg/c.2546T>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2546T>G_p.Leu849Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.2546T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101578952">View</a>	GT:AD:DP:GQ:PL:TP	0|0:157,0:157:99:0,472,5582:127	0|0:249,1:250:99:0,715,8746:127	0|1:77,88:165:99:2443,0,2393:127
10	101589925	.	G	A	4792.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=439;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbSNP139.ID=rs4148395;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4148395" target="_blank">rs4148395</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2621-139G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2621G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2621G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2621G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2621G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2621G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2621G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2621G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2621G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2621G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2621-139G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.2621-139G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101589925">View</a>	GT:AD:DP:GQ:PL:TP	0|0:132,0:132:99:0,397,4927:127	0|1:86,79:165:99:2415,0,2651:127	0|0:142,0:142:99:0,427,5221:127
10	101590619	.	C	T	7187.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbSNP139.ID=rs41318031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41318031" target="_blank">rs41318031</a>;ExAC.Info.AC=4435;ExAC.Info.AN=126676;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=4135;ExAC.Info.AC_Hom=131;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2883+11C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2884C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2884C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2884C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2884C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2884C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2884C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2884C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2884C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2884C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2883+11C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.2883+11C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101590619">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,52:106:99:1279,0,1650:127	0|0:145,0:145:99:0,436,5522:127	1|0:56,67:123:99:1979,0,1831:127
10	101591944	.	T	C	39069.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=598;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbSNP139.ID=rs4148396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4148396" target="_blank">rs4148396</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3258+56T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3259T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3259T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3259T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3259T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3259T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3259T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3259T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3259T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3258+56T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.3258+56T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101591944">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,192:192:99:7042,577,0:127	1|1:1,227:228:99:8646,655,0:127	1|0:102,76:178:99:2387,0,2833:127
10	101595996	.	T	A	18121.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=917;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17222723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17222723" target="_blank">rs17222723</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Pruritis_in_biliary_cirrhosis_patients|_association_with;hgmd_2014.2.OMIM_ID=601107;hgmd_2014.2.PubMed=16628674;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16628674" target="_blank">16628674</a>;ExAC.Info.AC=5402;ExAC.Info.AN=126700;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=5036;ExAC.Info.AC_Hom=182;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3563T>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3563T>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3563T>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3563T>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3563T>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3563T>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3563T>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3563T>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gAg;snpeff.Amino_Acid_Change=p.Val1188Glu/c.3563T>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.3563T>A_p.Val1188Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.3563T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101595996">View</a>	GT:AD:DP:GQ:PL:TP	1|0:141,125:266:99:3481,0,4079:127	0|0:385,1:386:99:0,1121,13384:127	1|0:124,141:265:99:4062,0,3343:127
10	101603522	.	T	C	6038.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbSNP139.ID=rs17216177;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17216177" target="_blank">rs17216177</a>;ExAC.Info.AC=6736;ExAC.Info.AN=126704;ExAC.Info.AF=0.053;ExAC.Info.AC_Het=6053;ExAC.Info.AC_Hom=341;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3742-34T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3742T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3742T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3742T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3742T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3742T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3742T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3742T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3742T>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3742-34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.3742-34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101603522">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,52:102:99:1559,0,1444:127	0|0:130,0:130:99:0,391,4504:127	1|0:43,32:75:99:874,0,1308:127
10	101604006	.	A	G	8846.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbSNP139.ID=rs34456559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34456559" target="_blank">rs34456559</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3844-73A>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3844A>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3844A>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3844A>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3844A>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3844A>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3844A>G;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3844-73A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.3844-73A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101604006">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,43:89:99:1178,0,1413:127	0|0:147,0:147:99:0,442,5013:127	1|0:63,79:142:99:2432,0,1700:127
10	101604207	.	C	T	6246.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbSNP139.ID=rs3740066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740066" target="_blank">rs3740066</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Intrahepatic_cholestasis_of_pregnancy|_association_with;hgmd_2014.2.OMIM_ID=601107;hgmd_2014.2.PubMed=17997497;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17997497" target="_blank">17997497</a>;ExAC.Info.AC=43236;ExAC.Info.AN=126704;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=28149;ExAC.Info.AC_Hom=7539;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile1324Ile/c.3972C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.3972C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.3972C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101604207">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,259,2997:127	0|1:45,52:97:99:1561,0,1322:127	0|1:36,53:89:99:1582,0,929:127
10	101605550	.	G	C	7443.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbSNP139.ID=rs17216282;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17216282" target="_blank">rs17216282</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4146+11G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4147G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4147G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4147G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4147G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4147G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4147G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4147G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4147G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4147G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4147G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4147G>C;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.4146+11G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.4146+11G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101605550">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,57:109:99:1668,0,1557:127	0|0:110,0:110:99:0,330,4038:127	1|0:47,56:103:99:1775,0,1454:127
10	101606861	.	G	T	4903.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbSNP139.ID=rs1137968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1137968" target="_blank">rs1137968</a>;ExAC.Info.AC=5434;ExAC.Info.AN=126704;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=5066;ExAC.Info.AC_Hom=183;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtT;snpeff.Amino_Acid_Change=p.Val1430Val/c.4290G>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.4290G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.4290G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101606861">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,36:74:99:982,0,1180:127	0|0:107,2:109:99:0,278,3969:127	1|0:42,35:77:99:1022,0,1350:127
10	101610533	.	C	T	7369.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbSNP139.ID=rs8187707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8187707" target="_blank">rs8187707</a>;ExAC.Info.AC=5140;ExAC.Info.AN=126704;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4804;ExAC.Info.AC_Hom=167;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His1496His/c.4488C>T;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4488C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.4488C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101610533">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,40:105:99:934,0,1864:127	0|0:125,0:125:99:0,376,4467:127	1|0:51,66:117:99:1775,0,1450:127
10	101610565	.	G	A	5729.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbSNP139.ID=rs17216212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17216212" target="_blank">rs17216212</a>;ExAC.Info.AC=5436;ExAC.Info.AN=126704;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=5069;ExAC.Info.AC_Hom=181;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4508+12G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4509G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4509G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4509G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4509G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4509G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4509G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4509G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4509G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4509G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4509G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4509G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=In31/32;SAVANT_HGVS=c.4508+12G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.4508+12G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101610565">View</a>	GT:AD:DP:GQ:PL:TP	1|0:45,30:75:99:833,0,1298:127	0|0:86,0:86:99:0,259,3241:127	1|0:33,42:75:99:1287,0,975:127
10	101611294	.	G	A	10470.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=570;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Dubin-Johnson_syndrome|_237500_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs8187710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8187710" target="_blank">rs8187710</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_efflux_activity;hgmd_2014.2.OMIM_ID=601107;hgmd_2014.2.PubMed=22027652;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=22027652" target="_blank">22027652</a>;ExAC.Info.AC=6568;ExAC.Info.AN=126704;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=5944;ExAC.Info.AC_Hom=312;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tAc;snpeff.Amino_Acid_Change=p.Cys1515Tyr/c.4544G>A;snpeff.Amino_Acid_length=1545;snpeff.Gene_Name=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370449;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370449;SAVANT_GENE=ABCC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC2" target="_blank">ABCC2</a>;SAVANT_INFO=+/69.5kb/32/5.3kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.4544G>A_p.Cys1515Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC2+c.4544G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101611294">View</a>	GT:AD:DP:GQ:PL:TP	1|0:92,81:173:99:2002,0,2699:127	0|0:233,0:233:99:0,700,8564:127	1|0:69,95:164:99:2551,0,1919:127
10	101639796	.	G	A	16096.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2255901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2255901" target="_blank">rs2255901</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=61588;ExAC.Info.AN=126704;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=30855;ExAC.Info.AC_Hom=15365;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser1464Ser/c.4392C>T;snpeff.Amino_Acid_length=1601;snpeff.Gene_Name=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342239;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324109;SAVANT_GENE=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;SAVANT_INFO=-/134.3kb/17/6.4kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.4320C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNMBP+c.4320C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101639796">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,66:132:99:1871,0,1886:127	0|1:74,70:144:99:1964,0,2071:127	1|1:0,99:99:99:3445,298,0:127
10	101639877	.	A	C	6012.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11190305;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11190305" target="_blank">rs11190305</a>;ExAC.Info.AC=43544;ExAC.Info.AN=126704;ExAC.Info.AF=0.344;ExAC.Info.AC_Het=28085;ExAC.Info.AC_Hom=7730;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tgT/tgG;snpeff.Amino_Acid_Change=p.Cys1437Trp/c.4311T>G;snpeff.Amino_Acid_length=1601;snpeff.Gene_Name=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342239;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324109;SAVANT_GENE=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;SAVANT_INFO=-/134.3kb/17/6.4kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.4239T>G_p.Cys1413Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNMBP+c.4239T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101639877">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,268,3081:127	0|1:53,61:114:99:1796,0,1460:127	0|1:52,44:96:99:1230,0,1405:127
10	101645498	.	T	C	3794.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2490763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2490763" target="_blank">rs2490763</a>;ExAC.Info.AC=59327;ExAC.Info.AN=125966;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=23296;ExAC.Info.AC_Hom=11280;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro1272Pro/c.3816A>G;snpeff.Amino_Acid_length=1601;snpeff.Gene_Name=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342239;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324109;SAVANT_GENE=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;SAVANT_INFO=-/134.3kb/17/6.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.3744A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNMBP+c.3744A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101645498">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,10:20:99:307,0,325:81	0|1:19,9:28:99:248,0,568:81	1|1:0,27:27:81:960,81,0:81
10	101654696	.	T	C	32281.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3758394;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758394" target="_blank">rs3758394</a>;ExAC.Info.AC=65248;ExAC.Info.AN=126700;ExAC.Info.AF=0.515;ExAC.Info.AC_Het=30681;ExAC.Info.AC_Hom=17167;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3228+7A>G;snpeff.Amino_Acid_length=1601;snpeff.Gene_Name=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342239;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3229A>G;snpeff.Amino_Acid_length=1601;snpeff.Gene_Name=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342239;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324109;SAVANT_GENE=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;SAVANT_INFO=-/134.3kb/17/6.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.3156+7A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNMBP+c.3156+7A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101654696">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,153:153:99:4862,459,0:127	1|1:0,149:149:99:4960,447,0:127	1|1:0,118:118:99:3870,354,0:127
10	101657880	.	G	A	10822.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=535;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7919323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7919323" target="_blank">rs7919323</a>;ExAC.Info.AC=43697;ExAC.Info.AN=126704;ExAC.Info.AF=0.345;ExAC.Info.AC_Het=28119;ExAC.Info.AC_Hom=7788;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn961Asn/c.2883C>T;snpeff.Amino_Acid_length=1601;snpeff.Gene_Name=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342239;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324109;SAVANT_GENE=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;SAVANT_INFO=-/134.3kb/17/6.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2883C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNMBP+c.2883C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101657880">View</a>	GT:AD:DP:GQ:PL:TP	0|0:164,1:165:99:0,459,5579:127	0|1:103,89:192:99:2696,0,2957:127	0|1:87,91:178:99:2735,0,2511:127
10	101658585	.	T	C	7077.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3740057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740057" target="_blank">rs3740057</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2703-68A>G;snpeff.Amino_Acid_length=1601;snpeff.Gene_Name=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342239;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324109;SAVANT_GENE=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;SAVANT_INFO=-/134.3kb/17/6.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2703-68A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNMBP+c.2703-68A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101658585">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,315,3685:127	0|1:53,48:101:99:1526,0,1663:127	0|1:41,60:101:99:2032,0,1302:127
10	101690050	.	C	T	6664.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=692;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10786578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10786578" target="_blank">rs10786578</a>;ExAC.Info.AC=5654;ExAC.Info.AN=16918;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=3118;ExAC.Info.AC_Hom=1029;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.172+2053C>T;snpeff.Gene_Name=DNMBP-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP-AS1" target="_blank">DNMBP-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434409;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2261-21147G>A;snpeff.Amino_Acid_length=1601;snpeff.Gene_Name=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP-AS1" target="_blank">DNMBP-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342239;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324109;SAVANT_GENE=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;SAVANT_INFO=-/134.3kb/17/6.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.2261-21147G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNMBP+c.2261-21147G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101690050">View</a>	GT:AD:DP:GQ:PL:TP	0|0:230,0:230:99:0,690,7855:127	0|1:137,116:253:99:3351,0,4023:127	0|0:209,0:209:99:0,628,7822:127
10	101690379	.	A	G	8508.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=392;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10883428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10883428" target="_blank">rs10883428</a>;ExAC.Info.AC=5695;ExAC.Info.AN=18248;ExAC.Info.AF=0.312;ExAC.Info.AC_Het=3071;ExAC.Info.AC_Hom=894;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.172+2382A>G;snpeff.Gene_Name=DNMBP-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP-AS1" target="_blank">DNMBP-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434409;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2261-21476T>C;snpeff.Amino_Acid_length=1601;snpeff.Gene_Name=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP-AS1" target="_blank">DNMBP-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342239;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324109;SAVANT_GENE=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;SAVANT_INFO=-/134.3kb/17/6.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.2261-21476T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNMBP+c.2261-21476T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101690379">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,352,4024:127	0|1:64,76:140:99:2311,0,1937:127	0|1:73,62:135:99:1963,0,2092:127
10	101715899	.	G	A	4800.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2862923;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2862923" target="_blank">rs2862923</a>;ExAC.Info.AC=52584;ExAC.Info.AN=126704;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=29943;ExAC.Info.AC_Hom=11314;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.331+310G>A;snpeff.Gene_Name=DNMBP-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP-AS1" target="_blank">DNMBP-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro444Pro/c.1332C>T;snpeff.Amino_Acid_length=1601;snpeff.Gene_Name=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP-AS1" target="_blank">DNMBP-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342239;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324109;SAVANT_GENE=DNMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMBP" target="_blank">DNMBP</a>;SAVANT_INFO=-/134.3kb/17/6.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1332C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNMBP+c.1332C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101715899">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2849:127	0|1:49,52:101:99:1508,0,1380:127	0|1:41,33:74:99:912,0,1159:127
10	101825160	.	C	G	47551.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=585;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Carboxypeptidase_N_deficiency|_212070_(3);dbSNP139.ID=rs3829161;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829161" target="_blank">rs3829161</a>;ExAC.Info.AC=52220;ExAC.Info.AN=126662;ExAC.Info.AF=0.412;ExAC.Info.AC_Het=29234;ExAC.Info.AC_Hom=10957;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.577-33G>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=CPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPN1" target="_blank">CPN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370418;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=CPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPN1" target="_blank">CPN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370418;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=CPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPN1" target="_blank">CPN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370418;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=CPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPN1" target="_blank">CPN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370418;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=CPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPN1" target="_blank">CPN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370418;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=CPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPN1" target="_blank">CPN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370418;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=CPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPN1" target="_blank">CPN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370418;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=CPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPN1" target="_blank">CPN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370418;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370418;SAVANT_GENE=CPN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPN1" target="_blank">CPN1</a>;SAVANT_INFO=-/39.7kb/9/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.577-33G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPN1+c.577-33G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101825160">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,183:183:99:6617,550,0:127	1|1:0,198:198:99:7171,595,0:127	1|1:0,204:204:99:7269,613,0:127
10	101912064	.	T	C	21478.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2862954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2862954" target="_blank">rs2862954</a>;ExAC.Info.AC=42009;ExAC.Info.AN=126388;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=24715;ExAC.Info.AC_Hom=8641;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile291Val/c.871A>G;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=ERLIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERLIN1" target="_blank">ERLIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000407654;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421367;SAVANT_GENE=ERLIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERLIN1" target="_blank">ERLIN1</a>;SAVANT_INFO=-/38.2kb/11/5.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.871A>G_p.Ile291Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ERLIN1+c.871A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101912064">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3661,325,0:127	1|0:71,59:130:99:1607,0,1990:127	1|1:0,104:104:99:3690,313,0:127
10	101953705	.	A	C	9390.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Cocoon_syndrome|_613630_(3);dbSNP139.ID=rs11597086;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11597086" target="_blank">rs11597086</a>;ExAC.Info.AC=37717;ExAC.Info.AN=126676;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=23895;ExAC.Info.AC_Hom=6786;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1974+36T>G;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370397;SAVANT_GENE=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;SAVANT_INFO=-/41.3kb/21/3.6kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1974+36T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHUK+c.1974+36T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101953705">View</a>	GT:AD:DP:GQ:PL:TP	0/1:66,54:120:99:1557,0,2151:127	0/1:70,55:125:99:1708,0,2118:127	0/1:74,51:125:99:1388,0,2236:127
10	101964312	.	G	A	16775.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=886;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cocoon_syndrome|_613630_(3);dbSNP139.ID=rs17880383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17880383" target="_blank">rs17880383</a>;ExAC.Info.AC=4983;ExAC.Info.AN=126702;ExAC.Info.AF=0.039;ExAC.Info.AC_Het=4583;ExAC.Info.AC_Hom=200;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser486Ser/c.1458C>T;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370397;SAVANT_GENE=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;SAVANT_INFO=-/41.3kb/21/3.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1458C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHUK+c.1458C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101964312">View</a>	GT:AD:DP:GQ:PL:TP	0|1:144,150:294:99:3684,0,3983:127	1|0:175,152:327:99:4108,0,5047:127	0|0:265,0:265:99:0,796,9336:127
10	101977883	.	C	T	25108.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=852;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Cocoon_syndrome|_613630_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2230804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230804" target="_blank">rs2230804</a>;ExAC.Info.AC=60695;ExAC.Info.AN=126700;ExAC.Info.AF=0.479;ExAC.Info.AC_Het=30127;ExAC.Info.AC_Hom=15218;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802C>T;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802C>T;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802C>T;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802C>T;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802C>T;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802C>T;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802C>T;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802C>T;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802C>T;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val268Ile/c.802G>A;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370397;SAVANT_GENE=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;SAVANT_INFO=-/41.3kb/21/3.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.802G>A_p.Val268Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHUK+c.802G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101977883">View</a>	GT:AD:DP:GQ:PL:TP	0/1:132,128:260:99:3612,0,3772:127	0/1:167,167:334:99:4845,0,4920:127	0/1:123,135:258:99:4027,0,3753:127
10	101980459	.	A	G	46662.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=601;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cocoon_syndrome|_613630_(3);dbSNP139.ID=rs986266;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=986266" target="_blank">rs986266</a>;ExAC.Info.AC=125730;ExAC.Info.AN=126618;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=780;ExAC.Info.AC_Hom=60908;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.386-26T>C;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386A>G;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386A>G;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386A>G;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386A>G;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386A>G;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386A>G;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386A>G;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386A>G;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386A>G;snpeff.Amino_Acid_length=745;snpeff.Gene_Name=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370397;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370397;SAVANT_GENE=CHUK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHUK" target="_blank">CHUK</a>;SAVANT_INFO=-/41.3kb/21/3.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.386-26T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHUK+c.386-26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:101980459">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,181:181:99:6585,544,0:127	1|1:0,213:213:99:8015,640,0:127	1|1:0,207:207:99:7564,622,0:127
10	102027407	.	C	T	6001.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12784396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12784396" target="_blank">rs12784396</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=57;snpeff.Amino_Acid_Change=c.-57G>A;snpeff.Amino_Acid_length=538;snpeff.Gene_Name=CWF19L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CWF19L1" target="_blank">CWF19L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354105;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354105;SAVANT_GENE=CWF19L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CWF19L1" target="_blank">CWF19L1</a>;SAVANT_INFO=-/35.4kb/14/2.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-57G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CWF19L1+c.-57G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102027407">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,22:35:99:617,0,383:127	0/1:29,36:65:99:997,0,882:127	0/1:22,26:48:99:677,0,575:127
10	102056745	.	C	T	1778.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2278842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2278842" target="_blank">rs2278842</a>;ExAC.Info.AC=14709;ExAC.Info.AN=126692;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=13000;ExAC.Info.AC_Hom=833;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177C>T;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318222;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177C>T;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318222;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val393Ile/c.1177G>A;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318222;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318222;SAVANT_GENE=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;SAVANT_INFO=-/42.3kb/16/3.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1177G>A_p.Val393Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKD2L1+c.1177G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102056745">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1534:120	0|0:59,0:59:99:0,177,2148:120	0|1:28,32:60:99:908,0,784:120
10	102059329	.	G	C	764.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2242050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2242050" target="_blank">rs2242050</a>;ExAC.Info.AC=17481;ExAC.Info.AN=126690;ExAC.Info.AF=0.138;ExAC.Info.AC_Het=14798;ExAC.Info.AC_Hom=1322;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.477+19C>G;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318222;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.478G>C;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318222;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.478G>C;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318222;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.478G>C;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318222;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318222;SAVANT_GENE=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;SAVANT_INFO=-/42.3kb/16/3.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.477+19C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKD2L1+c.477+19C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102059329">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,1005:80	0|0:31,0:31:93:0,93,1175:80	0|1:13,12:25:99:401,0,394:80
10	102088906	.	C	T	22565.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3829159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3829159" target="_blank">rs3829159</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.349+62G>A;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318222;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.350C>T;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318222;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.350C>T;snpeff.Amino_Acid_length=805;snpeff.Gene_Name=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318222;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318222;SAVANT_GENE=PKD2L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKD2L1" target="_blank">PKD2L1</a>;SAVANT_INFO=-/42.3kb/16/3.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.349+62G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKD2L1+c.349+62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102088906">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3203,294,0:127	1|1:0,97:97:99:3371,292,0:127	1|1:0,85:85:99:2963,256,0:127
10	102104521	.	C	T	15818.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs735877;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=735877" target="_blank">rs735877</a>;ExAC.Info.AC=47694;ExAC.Info.AN=116322;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=27023;ExAC.Info.AC_Hom=9952;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.103+1524G>A;snpeff.Gene_Name=RP11-34D15.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34D152" target="_blank">RP11-34D152</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000429420;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-34D152" target="_blank">RP11-34D152</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-34D152+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102104521">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2162,207,0:127	1|1:0,109:109:99:3350,327,0:127	1|0:59,45:104:99:1141,0,1482:127
10	102107251	.	C	G	2200.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=220;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1054411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1054411" target="_blank">rs1054411</a>;ExAC.Info.AC=46278;ExAC.Info.AN=126624;ExAC.Info.AF=0.365;ExAC.Info.AC_Het=27008;ExAC.Info.AC_Hom=9146;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=11;snpeff.Amino_Acid_Change=c.-11C>G;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370355;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370355;SAVANT_GENE=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;SAVANT_INFO=+/17.7kb/6/5.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-11C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCD+c.-11C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102107251">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,1:77:99:0,193,2649:127	0|0:70,0:70:99:0,211,2612:127	0|1:33,40:73:99:1119,0,939:127
10	102107297	.	C	T	3220.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs201033598;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201033598" target="_blank">rs201033598</a>;ExAC.Info.AC=913;ExAC.Info.AN=126674;ExAC.Info.AF=7.207e-03;ExAC.Info.AC_Het=898;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.27+9C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370355;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370355;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370355;SAVANT_GENE=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;SAVANT_INFO=+/17.7kb/6/5.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.27+9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCD+c.27+9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102107297">View</a>	GT:AD:DP:GQ:PL:TP	0|0:134,0:134:99:0,402,4281:127	0|0:117,0:117:99:0,352,4041:127	0|1:53,62:115:99:1629,0,1515:127
10	102116208	.	ATCCCC	A	2707.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs111712956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111712956" target="_blank">rs111712956</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.648-80_648-76delTCCCC;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648_652delTCCCC;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370355;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648_652delTCCCC;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.648_652delTCCCC;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370355;SAVANT_GENE=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;SAVANT_INFO=+/17.7kb/6/5.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.648-76_648-72del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCD+c.648-76_648-72del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102116208">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,4884:127	0|0:105,0:105:99:0,316,6289:127	0|1:45,36:81:99:1377,0,2431:127
10	102116311	.	A	C	3622.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=408;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2234970;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234970" target="_blank">rs2234970</a>;ExAC.Info.AC=51081;ExAC.Info.AN=126702;ExAC.Info.AF=0.403;ExAC.Info.AC_Het=29702;ExAC.Info.AC_Hom=10671;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.670A>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Ctg;snpeff.Amino_Acid_Change=p.Met224Leu/c.670A>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370355;SAVANT_GENE=SCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCD" target="_blank">SCD</a>;SAVANT_INFO=+/17.7kb/6/5.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.670A>C_p.Met224Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCD+c.670A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102116311">View</a>	GT:AD:DP:GQ:PL:TP	0|0:127,0:127:99:0,381,4016:127	0|0:148,0:148:99:0,444,4912:127	0|1:69,64:133:99:1830,0,2022:127
10	102295645	.	GT	G	802.0	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=70;snpeff.Amino_Acid_Change=c.-70delT;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000299163;SAVANT_GENE=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;SAVANT_INFO=+/14.1kb/8/3.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-58delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIF1AN+c.-58delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102295645">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,15:70:99:130,0,1148:29	1|0:79,17:96:99:160,0,1669:29	0|0:62,8:70:29:0,29,1361:29
10	102295836	.	C	G	2254.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2295778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295778" target="_blank">rs2295778</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Colorectal_cancer|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=606615;hgmd_2014.2.PubMed=17000706;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17000706" target="_blank">17000706</a>;ExAC.Info.AC=30614;ExAC.Info.AN=126404;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=22057;ExAC.Info.AC_Hom=3806;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121C>G;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VHL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121C>G;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VHL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121C>G;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Gcc;snpeff.Amino_Acid_Change=p.Pro41Ala/c.121C>G;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299163;SAVANT_GENE=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;SAVANT_INFO=+/14.1kb/8/3.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.121C>G_p.Pro41Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIF1AN+c.121C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102295836">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,339,3804:127	0|0:126,0:126:99:0,379,4461:127	0|1:50,40:90:99:1146,0,1406:127
10	102306228	.	C	T	2355.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs116854727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=116854727" target="_blank">rs116854727</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.831-47C>T;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831C>T;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831C>T;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831C>T;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831C>T;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831C>T;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:JmjC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831C>T;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299163;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299163;SAVANT_GENE=HIF1AN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIF1AN" target="_blank">HIF1AN</a>;SAVANT_INFO=+/14.1kb/8/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.831-47C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIF1AN+c.831-47C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102306228">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,18:28:99:592,0,288:114	0|0:38,0:38:99:0,114,1496:114	1|0:15,12:27:99:330,0,506:114
10	102506070	.	G	C	28399.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Papillorenal_syndrome|_120330_(3)|_Renal_hypoplasia|_isolated|_191830_(3);dbSNP139.ID=rs4472867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4472867" target="_blank">rs4472867</a>;ExAC.Info.AC=106023;ExAC.Info.AN=126676;ExAC.Info.AF=0.837;ExAC.Info.AC_Het=16352;ExAC.Info.AC_Hom=44671;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000080359;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.43+10G>C;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=PAX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX2" target="_blank">PAX2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370296;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428433;SAVANT_GENE=PAX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX2" target="_blank">PAX2</a>;SAVANT_INFO=+/84.2kb/11/4.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.43+10G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAX2+c.43+10G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102506070">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000080359" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:3009,276,0:127	1|1:0,119:119:99:4126,358,0:127	1|1:0,93:93:99:2999,279,0:127
10	102506103	.	C	A	1853.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Papillorenal_syndrome|_120330_(3)|_Renal_hypoplasia|_isolated|_191830_(3);dbSNP139.ID=rs4405241;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4405241" target="_blank">rs4405241</a>;ExAC.Info.AC=58806;ExAC.Info.AN=126604;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=27422;ExAC.Info.AC_Hom=15407;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.43+43C>A;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=PAX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX2" target="_blank">PAX2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370296;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428433;SAVANT_GENE=PAX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX2" target="_blank">PAX2</a>;SAVANT_INFO=+/84.2kb/11/4.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.43+43C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAX2+c.43+43C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102506103">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,183,2099:127	0|0:90,0:90:99:0,270,3136:127	0|1:34,34:68:99:946,0,882:127
10	102672718	.	T	C	5494.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3802724;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802724" target="_blank">rs3802724</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FAM178A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM178A" target="_blank">FAM178A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM178A" target="_blank">FAM178A</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM178A+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102672718">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,33:63:99:1142,0,873:127	0|0:67,1:68:99:0,194,2421:127	1|0:32,25:57:99:804,0,1008:127
10	102673063	.	G	T	998.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=63;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3802725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802725" target="_blank">rs3802725</a>;ExAC.Info.AC=35347;ExAC.Info.AN=114772;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=6381;ExAC.Info.AC_Hom=2312;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.140+56G>T;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=FAM178A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM178A" target="_blank">FAM178A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370269;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370269;SAVANT_GENE=FAM178A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM178A" target="_blank">FAM178A</a>;SAVANT_INFO=+/46.6kb/19/3.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.140+56G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM178A+c.140+56G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102673063">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,891:78	0|1:12,10:22:99:273,0,427:78	0|1:7,8:15:99:246,0,217:78
10	102684380	.	C	A	11188.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=591;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10883563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10883563" target="_blank">rs10883563</a>;ExAC.Info.AC=58001;ExAC.Info.AN=126694;ExAC.Info.AF=0.458;ExAC.Info.AC_Het=28491;ExAC.Info.AC_Hom=14587;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCt/tAt;snpeff.Amino_Acid_Change=p.Ser541Tyr/c.1622C>A;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=FAM178A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM178A" target="_blank">FAM178A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370269;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370269;SAVANT_GENE=FAM178A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM178A" target="_blank">FAM178A</a>;SAVANT_INFO=+/46.6kb/19/3.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1622C>A_p.Ser541Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM178A+c.1622C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102684380">View</a>	GT:AD:DP:GQ:PL:TP	0|0:175,0:175:99:0,526,6294:127	0|1:120,110:230:99:3059,0,3681:127	0|1:96,90:186:99:2555,0,2873:127
10	102689217	.	T	C	11930.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=447;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2273654;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273654" target="_blank">rs2273654</a>;ExAC.Info.AC=47829;ExAC.Info.AN=126646;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=27696;ExAC.Info.AC_Hom=9716;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2165+21T>C;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=FAM178A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM178A" target="_blank">FAM178A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370269;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370269;SAVANT_GENE=FAM178A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM178A" target="_blank">FAM178A</a>;SAVANT_INFO=+/46.6kb/19/3.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2165+21T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM178A+c.2165+21T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102689217">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,423,4652:127	0|1:81,94:175:99:2963,0,2255:127	0|1:41,90:131:99:3022,0,1100:127
10	102707497	.	C	T	1306.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=59;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72842157;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72842157" target="_blank">rs72842157</a>;ExAC.Info.AC=3;ExAC.Info.AN=126674;ExAC.Info.AF=2.368e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3033-20C>T;snpeff.Amino_Acid_length=1186;snpeff.Gene_Name=FAM178A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM178A" target="_blank">FAM178A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370269;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370269;SAVANT_GENE=FAM178A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM178A" target="_blank">FAM178A</a>;SAVANT_INFO=+/46.6kb/19/3.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.3033-20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM178A+c.3033-20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102707497">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,16:28:99:434,0,363:39	1|0:8,10:18:99:335,0,266:39	0|0:13,0:13:39:0,39,538:39
10	102732813	.	A	C	10988.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=570;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41291460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41291460" target="_blank">rs41291460</a>;ExAC.Info.AC=33883;ExAC.Info.AN=126694;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=23104;ExAC.Info.AC_Hom=5374;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.124+20A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125A>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000210633;SAVANT_GENE=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4G" target="_blank">SEMA4G</a>;SAVANT_INFO=+/12.8kb/14/4.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.124+20A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA4G+c.124+20A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102732813">View</a>	GT:AD:DP:GQ:PL:TP	1|0:91,64:155:99:1675,0,2519:127	0|0:240,0:240:99:0,721,8167:127	1|0:101,74:175:99:2101,0,2906:127
10	102733407	.	C	A	2850.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41291462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41291462" target="_blank">rs41291462</a>;ExAC.Info.AC=33361;ExAC.Info.AN=126666;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=22318;ExAC.Info.AC_Hom=4959;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.336+41C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000210633;SAVANT_GENE=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4G" target="_blank">SEMA4G</a>;SAVANT_INFO=+/12.8kb/14/4.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.336+41C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA4G+c.336+41C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102733407">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,14:33:99:387,0,626:127	0|0:43,0:43:99:0,129,1604:127	1|0:16,24:40:99:715,0,438:127
10	102734778	.	C	G	2785.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4919510;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4919510" target="_blank">rs4919510</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Breast_cancer|_HER2-positive|_increased_risk;hgmd_2014.2.PubMed=22586447;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=22586447" target="_blank">22586447</a>;ExAC.Info.AC=33561;ExAC.Info.AN=126206;ExAC.Info.AF=0.266;ExAC.Info.AC_Het=22743;ExAC.Info.AC_Hom=5230;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.37C>G;snpeff.Gene_Name=MIR608;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000384820;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.336+1412C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.337C>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR608" target="_blank">MIR608</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000210633;SAVANT_GENE=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4G" target="_blank">SEMA4G</a>;SAVANT_INFO=+/12.8kb/14/4.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.336+1412C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA4G+c.336+1412C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102734778">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,31:54:99:920,0,594:127	0|0:59,0:59:99:0,176,1958:127	1|0:31,19:50:99:507,0,870:127
10	102738551	.	A	G	7463.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs67813203;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67813203" target="_blank">rs67813203</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.644-55A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Sema];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.644A>G;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000210633;SAVANT_GENE=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4G" target="_blank">SEMA4G</a>;SAVANT_INFO=+/12.8kb/14/4.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.644-55A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA4G+c.644-55A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102738551">View</a>	GT:AD:DP:GQ:PL:TP	1|0:64,54:118:99:1564,0,1707:127	0|0:163,0:163:99:0,490,5582:127	1|0:69,46:115:99:1354,0,2119:127
10	102743494	.	G	A	7110.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs41291464;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41291464" target="_blank">rs41291464</a>;ExAC.Info.AC=2902;ExAC.Info.AN=126684;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2741;ExAC.Info.AC_Hom=44;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.168+1710C>T;snpeff.Gene_Name=RP11-108L7.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108L74" target="_blank">RP11-108L74</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447344;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.655+18C>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108L74" target="_blank">RP11-108L74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370242;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2138G>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108L74" target="_blank">RP11-108L74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg713His/c.2138G>A;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108L74" target="_blank">RP11-108L74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000210633:ENST00000342071;SAVANT_GENE=SEMA4G:MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4G:MRPL43" target="_blank">SEMA4G:MRPL43</a>;SAVANT_INFO=+/12.8kb/14/4.1kb:-/6.1kb/6/0.9kb;SAVANT_LOC=Ex14:In5/6;SAVANT_HGVS=c.2138G>A_p.Arg713His:c.655+18C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA4G:MRPL43+c.2138G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102743494">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,61:113:99:1604,0,1382:127	0|0:128,0:128:99:0,384,4459:127	1|0:39,36:75:99:1038,0,1082:127
10	102744214	.	T	C	10463.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=516;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2295716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295716" target="_blank">rs2295716</a>;ExAC.Info.AC=4346;ExAC.Info.AN=23544;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=1929;ExAC.Info.AC_Hom=418;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.466-383A>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370242;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.168+990A>G;snpeff.Gene_Name=RP11-108L7.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447344;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=326;snpeff.Amino_Acid_Change=c.*326T>C;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000210633:ENST00000342071;SAVANT_GENE=SEMA4G:MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4G:MRPL43" target="_blank">SEMA4G:MRPL43</a>;SAVANT_INFO=+/12.8kb/14/4.1kb:-/6.1kb/6/0.9kb;SAVANT_LOC=3UTR:In3/4;SAVANT_HGVS=c.*326T>C:c.466-383A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA4G:MRPL43+c.*326T>C:c.466-383A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102744214">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,84:158:99:2435,0,1871:127	0|0:223,0:223:99:0,670,7609:127	1|0:68,67:135:99:2000,0,1917:127
10	102744331	.	A	T	5372.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11591349;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11591349" target="_blank">rs11591349</a>;ExAC.Info.AC=7559;ExAC.Info.AN=26364;ExAC.Info.AF=0.287;ExAC.Info.AC_Het=3211;ExAC.Info.AC_Hom=1200;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.466-500T>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370242;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.168+873T>A;snpeff.Gene_Name=RP11-108L7.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000447344;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=443;snpeff.Amino_Acid_Change=c.*443A>T;snpeff.Amino_Acid_length=843;snpeff.Gene_Name=SEMA4G;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000210633;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000210633:ENST00000342071;SAVANT_GENE=SEMA4G:MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA4G:MRPL43" target="_blank">SEMA4G:MRPL43</a>;SAVANT_INFO=+/12.8kb/14/4.1kb:-/6.1kb/6/0.9kb;SAVANT_LOC=3UTR:In3/4;SAVANT_HGVS=c.*443A>T:c.466-500T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEMA4G:MRPL43+c.*443A>T:c.466-500T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102744331">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,185,1964:127	0|1:50,52:102:99:1508,0,1481:127	0|1:32,40:72:99:1197,0,951:127
10	102746503	.	C	T	9920.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=459;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2863095;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2863095" target="_blank">rs2863095</a>;ExAC.Info.AC=33710;ExAC.Info.AN=126696;ExAC.Info.AF=0.266;ExAC.Info.AC_Het=23070;ExAC.Info.AC_Hom=5297;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.465+3G>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370242;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466G>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370242;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342071;SAVANT_GENE=MRPL43;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL43" target="_blank">MRPL43</a>;SAVANT_INFO=-/6.1kb/6/0.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.465+3G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL43+c.465+3G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102746503">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,66:145:99:1703,0,2462:127	0|0:168,0:168:99:0,505,6132:127	1|0:74,72:146:99:1934,0,2192:127
10	102750621	.	C	T	19087.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=743;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Progressive_external_ophthalmoplegia|_autosomal_dominant|_3|_609286_(3)|_Mitochondrial_DNA_depletion_syndrome_7_(hepatocerebral_type)|_271245_(3);dbSNP139.ID=rs3740485;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740485" target="_blank">rs3740485</a>;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124041;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1593-5C>T;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593C>T;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593C>T;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593C>T;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593C>T;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593C>T;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593C>T;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311916;SAVANT_GENE=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;SAVANT_INFO=+/6.4kb/5/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1593-5C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf2+c.1593-5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102750621">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124041" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:131,115:246:99:4575,0,6983:127	0|0:275,1:276:99:0,839,16413:127	1|0:122,99:221:99:3966,0,6450:127
10	102750623	.	T	C	19087.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=794;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Progressive_external_ophthalmoplegia|_autosomal_dominant|_3|_609286_(3)|_Mitochondrial_DNA_depletion_syndrome_7_(hepatocerebral_type)|_271245_(3);dbSNP139.ID=rs3740486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740486" target="_blank">rs3740486</a>;ExAC.Info.AC=34674;ExAC.Info.AN=126702;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=23272;ExAC.Info.AC_Hom=5698;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124042;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1593-3T>C;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593T>C;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593T>C;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593T>C;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593T>C;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593T>C;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1593T>C;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311916;SAVANT_GENE=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;SAVANT_INFO=+/6.4kb/5/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1593-3T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf2+c.1593-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102750623">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124042" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:138,120:258:99:4575,0,6983:127	0|0:298,2:300:99:0,839,16413:127	1|0:131,105:236:99:3966,0,6450:127
10	102750783	.	C	A	13857.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=708;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Progressive_external_ophthalmoplegia|_autosomal_dominant|_3|_609286_(3)|_Mitochondrial_DNA_depletion_syndrome_7_(hepatocerebral_type)|_271245_(3);dbSNP139.ID=rs3740487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740487" target="_blank">rs3740487</a>;ExAC.Info.AC=34671;ExAC.Info.AN=126704;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=23272;ExAC.Info.AC_Hom=5686;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000124043;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1734+16C>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735C>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735C>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735C>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735C>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735C>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311916;SAVANT_GENE=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;SAVANT_INFO=+/6.4kb/5/3.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1734+16C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf2+c.1734+16C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102750783">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124043" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:132,95:227:99:2772,0,3949:127	0|0:268,1:269:99:0,768,9068:127	1|0:99,113:212:99:3372,0,2907:127
10	102750851	.	G	A	8235.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Progressive_external_ophthalmoplegia|_autosomal_dominant|_3|_609286_(3)|_Mitochondrial_DNA_depletion_syndrome_7_(hepatocerebral_type)|_271245_(3);dbSNP139.ID=rs3824783;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824783" target="_blank">rs3824783</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1734+84G>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735G>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735G>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735G>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735G>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SF4_helicase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1735G>A;snpeff.Amino_Acid_length=684;snpeff.Gene_Name=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311916;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311916;SAVANT_GENE=C10orf2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf2" target="_blank">C10orf2</a>;SAVANT_INFO=+/6.4kb/5/3.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1734+84G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf2+c.1734+84G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102750851">View</a>	GT:AD:DP:GQ:PL:TP	1|0:78,51:129:99:1300,0,2361:127	0|0:140,0:140:99:0,421,5230:127	1|0:53,68:121:99:1934,0,1608:127
10	102766574	.	A	G	3549.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs807024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=807024" target="_blank">rs807024</a>;ExAC.Info.AC=33428;ExAC.Info.AN=123932;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=19396;ExAC.Info.AC_Hom=3894;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_KATNB1_and_for_inhibition_of_katanin-mediated_microtubule_severing];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1659A>G;snpeff.Amino_Acid_length=669;snpeff.Gene_Name=LZTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LZTS2" target="_blank">LZTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370223;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Sufficient_for_interaction_with_CTNNB1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1659A>G;snpeff.Amino_Acid_length=669;snpeff.Gene_Name=LZTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LZTS2" target="_blank">LZTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370223;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1659A>G;snpeff.Amino_Acid_length=669;snpeff.Gene_Name=LZTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LZTS2" target="_blank">LZTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370223;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1659A>G;snpeff.Amino_Acid_length=669;snpeff.Gene_Name=LZTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LZTS2" target="_blank">LZTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370223;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1659A>G;snpeff.Amino_Acid_length=669;snpeff.Gene_Name=LZTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LZTS2" target="_blank">LZTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370223;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala553Ala/c.1659A>G;snpeff.Amino_Acid_length=669;snpeff.Gene_Name=LZTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LZTS2" target="_blank">LZTS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370223;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370220;SAVANT_GENE=LZTS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LZTS2" target="_blank">LZTS2</a>;SAVANT_INFO=+/8.4kb/4/5.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1659A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LZTS2+c.1659A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102766574">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,15:15:45:552,45,0:45	1|0:31,15:46:99:400,0,921:45	1|0:14,13:27:99:369,0,415:45
10	102768234	.	C	T	872.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72838683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72838683" target="_blank">rs72838683</a>;ExAC.Info.AC=947;ExAC.Info.AN=33376;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=557;ExAC.Info.AC_Hom=16;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102768234">View</a>	GT:AD:DP:GQ:PL:TP	0|0:16,0:16:48:0,48,530:47	0|1:7,15:22:99:455,0,199:47	0|0:19,0:19:57:0,57,705:47
10	102770082	.	T	G	26534.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs807023;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=807023" target="_blank">rs807023</a>;ExAC.Info.AC=37363;ExAC.Info.AN=43498;ExAC.Info.AF=0.859;ExAC.Info.AC_Het=2485;ExAC.Info.AC_Hom=5544;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000037105;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102770082">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000037105" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3033,270,0:127	1|1:0,111:111:99:3809,334,0:127	1|1:0,99:99:99:3463,297,0:127
10	102770293	.	T	TGCTGCG	3729.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=228;MQ=70.08;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs200896335;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200896335" target="_blank">rs200896335</a>;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000037102;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102770293">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000037102" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,202,2807:127	0|0:83,0:83:99:0,271,3832:127	0|1:34,47:81:99:1888,0,1263:127
10	102770309	.	GCGGCTACGGCTGCGGCTA	G	3159.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=286;MQ=70.08;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ExAC.Info.AC=72;ExAC.Info.AN=21160;ExAC.Info.AF=3.403e-03;ExAC.Info.AC_Het=67;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102770309">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,233,3470:127	0|1:54,45:99:99:1603,0,2117:127	0|0:108,0:108:99:0,320,4740:127
10	102770327	.	A	G	17332.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs807022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=807022" target="_blank">rs807022</a>;ExAC.Info.AC=12140;ExAC.Info.AN=16358;ExAC.Info.AF=0.742;ExAC.Info.AC_Het=1684;ExAC.Info.AC_Hom=3530;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000037100;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102770327">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000037100" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2038,179,0:127	1|0:45,49:94:99:1538,0,1618:127	1|1:0,94:94:99:3203,278,0:127
10	102775349	.	CT	C	6678.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs34125357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34125357" target="_blank">rs34125357</a>;ExAC.Info.AC=6371;ExAC.Info.AN=21608;ExAC.Info.AF=0.295;ExAC.Info.AC_Het=2584;ExAC.Info.AC_Hom=913;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD7+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102775349">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,25:45:99:876,0,657:127	0|0:67,0:67:99:0,205,2721:127	1|1:0,52:52:99:2066,156,0:127
10	102780312	.	G	T	9988.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7075685;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7075685" target="_blank">rs7075685</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.928+63C>A;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370215;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370215;SAVANT_GENE=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;SAVANT_INFO=-/13.8kb/10/2.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.928+63C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD7+c.928+63C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102780312">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,38:86:99:1037,0,1474:127	0|1:51,46:97:99:1400,0,1637:127	1|1:0,56:56:99:2069,168,0:127
10	102780354	.	TG	T	18950.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=439;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs77484072;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77484072" target="_blank">rs77484072</a>;ExAC.Info.AC=60698;ExAC.Info.AN=126702;ExAC.Info.AF=0.479;ExAC.Info.AC_Het=30337;ExAC.Info.AC_Hom=15042;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.928+20delC;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370215;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370215;SAVANT_GENE=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;SAVANT_INFO=-/13.8kb/10/2.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.928+20delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD7+c.928+20delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102780354">View</a>	GT:AD:DP:GQ:PL:TP	1|0:84,66:150:99:1882,0,2527:127	0|1:91,78:169:99:2275,0,2720:127	1|1:0,120:120:99:4230,360,0:127
10	102783678	.	T	C	12433.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs6584410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6584410" target="_blank">rs6584410</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=73036;ExAC.Info.AN=126704;ExAC.Info.AF=0.576;ExAC.Info.AC_Het=29585;ExAC.Info.AC_Hom=21724;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000039455;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.367+7A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370215;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370215;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370215;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370215;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370215;SAVANT_GENE=PDZD7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD7" target="_blank">PDZD7</a>;SAVANT_INFO=-/13.8kb/10/2.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.367+7A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD7+c.367+7A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102783678">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000039455" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:36,47:83:99:1259,0,966:127	0|1:63,49:112:99:1336,0,1758:127	1|1:0,89:89:99:2945,267,0:127
10	102792295	.	G	A	9394.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs807014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=807014" target="_blank">rs807014</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9+56G>A;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=SFXN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN3" target="_blank">SFXN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000224807;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224807;SAVANT_GENE=SFXN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN3" target="_blank">SFXN3</a>;SAVANT_INFO=+/10.0kb/12/3.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.9+56G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFXN3+c.9+56G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102792295">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,31:51:99:803,0,526:127	0|1:37,38:75:99:1027,0,925:127	1|1:0,53:53:99:1860,159,0:127
10	102824349	.	G	C	3552.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs807037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=807037" target="_blank">rs807037</a>;ExAC.Info.AC=79161;ExAC.Info.AN=126698;ExAC.Info.AF=0.625;ExAC.Info.AC_Het=28775;ExAC.Info.AC_Hom=25083;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.764G>C;snpeff.Amino_Acid_length=304;snpeff.Gene_Name=KAZALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZALD1" target="_blank">KAZALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370200;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.764G>C;snpeff.Amino_Acid_length=304;snpeff.Gene_Name=KAZALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZALD1" target="_blank">KAZALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370200;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gCc;snpeff.Amino_Acid_Change=p.Gly255Ala/c.764G>C;snpeff.Amino_Acid_length=304;snpeff.Gene_Name=KAZALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZALD1" target="_blank">KAZALD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370200;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370200;SAVANT_GENE=KAZALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZALD1" target="_blank">KAZALD1</a>;SAVANT_INFO=+/3.8kb/5/1.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.764G>C_p.Gly255Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZALD1+c.764G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102824349">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,7:17:99:228,0,315:66	0|1:15,16:31:99:461,0,488:66	1|1:0,22:22:66:725,66,0:66
10	102827757	.	G	GT	7737.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs60001046;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60001046" target="_blank">rs60001046</a>;ExAC.Info.AC=3143;ExAC.Info.AN=24750;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=2433;ExAC.Info.AC_Hom=258;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=KAZALD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZALD1" target="_blank">KAZALD1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KAZALD1" target="_blank">KAZALD1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=KAZALD1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:102827757">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,48:105:99:1384,0,1690:127	1|0:71,53:124:99:1521,0,2167:127	0|0:94,0:94:99:0,283,3342:127
10	103221870	.	CAGG	C	22043.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5787432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5787432" target="_blank">rs5787432</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.234+56_234+58delAGG;snpeff.Amino_Acid_length=605;snpeff.Gene_Name=BTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTRC" target="_blank">BTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370187;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000370187;SAVANT_GENE=BTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTRC" target="_blank">BTRC</a>;SAVANT_INFO=+/203.3kb/15/6.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.234+60_234+62delGGA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTRC+c.234+60_234+62delGGA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103221870">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2873,195,0:127	1|1:0,84:84:99:3718,253,0:127	1|1:0,68:68:99:3005,205,0:127
10	103281634	.	C	G	3211.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs6584429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6584429" target="_blank">rs6584429</a>;ExAC.Info.AC=32771;ExAC.Info.AN=126686;ExAC.Info.AF=0.259;ExAC.Info.AC_Het=21559;ExAC.Info.AC_Hom=5521;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.556+7C>G;snpeff.Amino_Acid_length=605;snpeff.Gene_Name=BTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTRC" target="_blank">BTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370187;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.557C>G;snpeff.Amino_Acid_length=605;snpeff.Gene_Name=BTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTRC" target="_blank">BTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370187;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.557C>G;snpeff.Amino_Acid_length=605;snpeff.Gene_Name=BTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTRC" target="_blank">BTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370187;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.557C>G;snpeff.Amino_Acid_length=605;snpeff.Gene_Name=BTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTRC" target="_blank">BTRC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370187;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370187;SAVANT_GENE=BTRC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTRC" target="_blank">BTRC</a>;SAVANT_INFO=+/203.3kb/15/6.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.556+7C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTRC+c.556+7C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103281634">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,18:39:99:611,0,713:127	1|0:22,25:47:99:838,0,770:127	0|0:45,0:45:99:0,135,1754:127
10	103368654	.	T	C	21944.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7006" target="_blank">rs7006</a>;ExAC.Info.AC=31755;ExAC.Info.AN=126704;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=23015;ExAC.Info.AC_Hom=4364;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DPCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPCD" target="_blank">DPCD</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370151;SAVANT_GENE=DPCD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPCD" target="_blank">DPCD</a>;SAVANT_INFO=+/21.4kb/6/0.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.467T>C_p.Leu156Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPCD+c.467T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103368654">View</a>	GT:AD:DP:GQ:PL:TP	0|1:225,168:393:99:4134,0,6035:127	1|0:233,212:445:99:5769,0,6544:127	0|0:417,0:417:99:0,1252,13872:127
10	103542959	.	C	G	5190.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs935445;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=935445" target="_blank">rs935445</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.118+71G>C;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=NPM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPM3" target="_blank">NPM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370110;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370110;SAVANT_GENE=NPM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPM3" target="_blank">NPM3</a>;SAVANT_INFO=-/2.1kb/6/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.118+71G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPM3+c.118+71G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103542959">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,25:55:99:959,0,1731:120	1|0:24,25:49:99:978,0,1359:120	0|0:40,0:40:99:0,120,2705:120
10	103542960	.	C	G	5190.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs935444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=935444" target="_blank">rs935444</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.118+70G>C;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=NPM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPM3" target="_blank">NPM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370110;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370110;SAVANT_GENE=NPM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPM3" target="_blank">NPM3</a>;SAVANT_INFO=-/2.1kb/6/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.118+70G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPM3+c.118+70G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103542960">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,25:55:99:959,0,1731:120	1|0:23,25:48:99:978,0,1359:120	0|0:40,0:40:99:0,120,2705:120
10	103567665	.	GA	G	1289.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=238;MQ=70.03;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs372242564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=372242564" target="_blank">rs372242564</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.481-8delT;snpeff.Amino_Acid_length=916;snpeff.Gene_Name=MGEA5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGEA5" target="_blank">MGEA5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361464;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481delT;snpeff.Amino_Acid_length=916;snpeff.Gene_Name=MGEA5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGEA5" target="_blank">MGEA5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361464;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361464;SAVANT_GENE=MGEA5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGEA5" target="_blank">MGEA5</a>;SAVANT_INFO=-/34.0kb/16/5.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.481-8delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MGEA5+c.481-8delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103567665">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,18:67:99:233,0,1012:127	0/1:73,22:95:99:181,0,1479:127	0/1:54,22:76:99:252,0,1160:127
10	103573222	.	C	T	3410.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11191118;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11191118" target="_blank">rs11191118</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.251+90G>A;snpeff.Amino_Acid_length=916;snpeff.Gene_Name=MGEA5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGEA5" target="_blank">MGEA5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361464;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361464;SAVANT_GENE=MGEA5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGEA5" target="_blank">MGEA5</a>;SAVANT_INFO=-/34.0kb/16/5.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.251+90G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MGEA5+c.251+90G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103573222">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,12:31:99:343,0,542:127	1|0:26,27:53:99:864,0,835:127	0|0:56,0:56:99:0,168,1917:127
10	103587552	.	G	A	10796.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2305189;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2305189" target="_blank">rs2305189</a>;ExAC.Info.AC=27838;ExAC.Info.AN=126688;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=20164;ExAC.Info.AC_Hom=3583;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.748-44C>T;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000461105;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.172-65G>A;snpeff.Gene_Name=KCNIP2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000412353;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.748G>A;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000461105;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.748G>A;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000461105;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.748G>A;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000461105;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000461105;SAVANT_GENE=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;SAVANT_INFO=-/16.2kb/10/0.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.748-44C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNIP2+c.748-44C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103587552">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,47:100:99:1271,0,1590:127	0|0:112,0:112:99:0,337,4191:127	1|1:0,90:90:99:3267,271,0:127
10	103588734	.	A	G	8187.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1562364;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1562364" target="_blank">rs1562364</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.393+98T>C;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000461105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394A>G;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000461105;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.394A>G;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000461105;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000461105;SAVANT_GENE=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;SAVANT_INFO=-/16.2kb/10/0.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.393+98T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNIP2+c.393+98T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103588734">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,25:50:99:725,0,715:127	0|1:44,40:84:99:1109,0,1217:127	1|1:0,49:49:99:1709,147,0:127
10	103590112	.	G	A	2110.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72844664;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72844664" target="_blank">rs72844664</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.170-413C>T;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000461105;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000461105;SAVANT_GENE=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;SAVANT_INFO=-/16.2kb/10/0.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.170-413C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNIP2+c.170-413C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103590112">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1970:95	0|1:37,38:75:99:1074,0,1089:95	0|0:32,0:32:95:0,95,1130:95
10	103603162	.	G	T	1054.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12413444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12413444" target="_blank">rs12413444</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+91C>A;snpeff.Amino_Acid_length=285;snpeff.Gene_Name=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000461105;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000461105;SAVANT_GENE=KCNIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNIP2" target="_blank">KCNIP2</a>;SAVANT_INFO=-/16.2kb/10/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.73+91C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNIP2+c.73+91C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103603162">View</a>	GT:AD:DP:GQ:PL:TP	0|0:23,0:23:69:0,69,846:53	0|1:12,18:30:99:546,0,394:53	0|0:18,0:18:54:0,54,671:53
10	103717493	.	T	TA	1677.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=70;MQ=70.10;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs376923161;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=376923161" target="_blank">rs376923161</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1496-4_1496-5insT;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=C10orf76;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf76" target="_blank">C10orf76</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370033;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496_1497insT;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=C10orf76;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf76" target="_blank">C10orf76</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370033;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000370033;SAVANT_GENE=C10orf76;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf76" target="_blank">C10orf76</a>;SAVANT_INFO=-/210.6kb/26/4.1kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.1496-5dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf76+c.1496-5dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103717493">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,14:21:96:251,0,96:72	0/1:7,13:20:73:233,0,73:72	0/1:10,19:29:99:378,0,131:72
10	103799758	.	C	T	15758.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11191190;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11191190" target="_blank">rs11191190</a>;ExAC.Info.AC=34950;ExAC.Info.AN=125188;ExAC.Info.AF=0.279;ExAC.Info.AC_Het=24153;ExAC.Info.AC_Hom=5388;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.102+12G>A;snpeff.Amino_Acid_length=689;snpeff.Gene_Name=C10orf76;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf76" target="_blank">C10orf76</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370033;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370033;SAVANT_GENE=C10orf76;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf76" target="_blank">C10orf76</a>;SAVANT_INFO=-/210.6kb/26/4.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.102+12G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf76+c.102+12G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103799758">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,63:129:99:1778,0,1747:127	0|0:184,0:184:99:0,553,6408:127	1|1:0,139:139:99:5069,418,0:127
10	103825747	.	G	A	1026.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_6|_614075_(3);dbSNP139.ID=rs3737243;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737243" target="_blank">rs3737243</a>;ExAC.Info.AC=10639;ExAC.Info.AN=126128;ExAC.Info.AF=0.084;ExAC.Info.AC_Het=9060;ExAC.Info.AC_Hom=497;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly172Gly/c.516G>A;snpeff.Amino_Acid_length=775;snpeff.Gene_Name=HPS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS6" target="_blank">HPS6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299238;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299238;SAVANT_GENE=HPS6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS6" target="_blank">HPS6</a>;SAVANT_INFO=+/2.6kb/1/2.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.516G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS6+c.516G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103825747">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1611:125	0|1:23,18:41:99:532,0,737:125	0|0:42,0:42:99:0,126,1542:125
10	103904763	.	TC	T	6051.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=175;MQ=70.09;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs11357964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11357964" target="_blank">rs11357964</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3609-13delC;snpeff.Amino_Acid_length=1664;snpeff.Gene_Name=PPRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPRC1" target="_blank">PPRC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278070;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000278070;SAVANT_GENE=PPRC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPRC1" target="_blank">PPRC1</a>;SAVANT_INFO=+/17.3kb/14/5.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.3609-6delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPRC1+c.3609-6delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103904763">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,32:64:99:666,0,770:125	1|1:8,61:69:99:1559,125,0:125	0|1:25,17:42:99:368,0,544:125
10	103991381	.	G	A	4470.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Anterior_segment_mesenchymal_dysgenesis|_107250_(3)|_Cataract_11|_multiple_types|_610623_(3)|_Cataract_11|_syndromic|_610623_(3);dbSNP139.ID=rs2281983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281983" target="_blank">rs2281983</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Parkinson_disease|_association_with;hgmd_2014.2.OMIM_ID=602669;hgmd_2014.2.PubMed=21469209;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21469209" target="_blank">21469209</a>;ExAC.Info.AC=77158;ExAC.Info.AN=126324;ExAC.Info.AF=0.611;ExAC.Info.AC_Het=27537;ExAC.Info.AC_Hom=22427;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile95Ile/c.285C>T;snpeff.Amino_Acid_length=302;snpeff.Gene_Name=PITX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITX3" target="_blank">PITX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000370002;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000370002;SAVANT_GENE=PITX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PITX3" target="_blank">PITX3</a>;SAVANT_INFO=-/11.3kb/4/1.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.285C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PITX3+c.285C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:103991381">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,0:95:99:0,284,3020:127	0|1:46,51:97:99:1436,0,1226:127	0|1:48,32:80:99:819,0,1360:127
10	104111540	.	T	TACC	8377.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs144741702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144741702" target="_blank">rs144741702</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.415-59_415-58insACC;snpeff.Amino_Acid_length=1859;snpeff.Gene_Name=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369983;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369983;SAVANT_GENE=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;SAVANT_INFO=+/137.4kb/40/6.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.415-59_415-57dupACC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBF1+c.415-59_415-57dupACC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104111540">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,43:100:99:1647,0,2516:127	0|0:131,0:131:99:0,394,6439:127	1|0:35,46:81:99:1901,0,1505:127
10	104120731	.	CA	C	444.75	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs375688888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=375688888" target="_blank">rs375688888</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1390-47delA;snpeff.Amino_Acid_length=1859;snpeff.Gene_Name=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369983;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369983;SAVANT_GENE=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;SAVANT_INFO=+/137.4kb/40/6.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1390-30delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBF1+c.1390-30delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104120731">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,5:20:29:29,0,236:24	0/1:18,10:28:99:133,0,264:24	0/1:13,5:18:26:26,0,180:24
10	104127171	.	G	A	9850.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=450;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2273555;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273555" target="_blank">rs2273555</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2557-64G>A;snpeff.Amino_Acid_length=1859;snpeff.Gene_Name=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369983;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2557G>A;snpeff.Amino_Acid_length=1859;snpeff.Gene_Name=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369983;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2557G>A;snpeff.Amino_Acid_length=1859;snpeff.Gene_Name=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369983;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2557G>A;snpeff.Amino_Acid_length=1859;snpeff.Gene_Name=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369983;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2557G>A;snpeff.Amino_Acid_length=1859;snpeff.Gene_Name=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369983;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2557G>A;snpeff.Amino_Acid_length=1859;snpeff.Gene_Name=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369983;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SEC7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2557G>A;snpeff.Amino_Acid_length=1859;snpeff.Gene_Name=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369983;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369983;SAVANT_GENE=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;SAVANT_INFO=+/137.4kb/40/6.4kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2557-64G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBF1+c.2557-64G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104127171">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,379,4490:127	0|1:83,86:169:99:2544,0,2420:127	0|1:75,80:155:99:2401,0,2211:127
10	104128954	.	T	A	13979.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7902882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7902882" target="_blank">rs7902882</a>;ExAC.Info.AC=126317;ExAC.Info.AN=126682;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=355;ExAC.Info.AC_Hom=62866;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2971-14T>A;snpeff.Amino_Acid_length=1859;snpeff.Gene_Name=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369983;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369983;SAVANT_GENE=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;SAVANT_INFO=+/137.4kb/40/6.4kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2971-14T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBF1+c.2971-14T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104128954">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2063,186,0:127	1|1:0,57:57:99:2056,171,0:127	1|1:0,52:52:99:1751,156,0:127
10	104136469	.	T	C	30077.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2180707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2180707" target="_blank">rs2180707</a>;ExAC.Info.AC=126541;ExAC.Info.AN=126700;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=151;ExAC.Info.AC_Hom=63018;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile1399Ile/c.4197T>C;snpeff.Amino_Acid_length=1859;snpeff.Gene_Name=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369983;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369983;SAVANT_GENE=GBF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBF1" target="_blank">GBF1</a>;SAVANT_INFO=+/137.4kb/40/6.4kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.4197T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GBF1+c.4197T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104136469">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,123:123:99:4390,370,0:127	1|1:0,126:126:99:4464,379,0:127	1|1:0,95:95:99:3301,286,0:127
10	104157711	.	T	G	1132.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Immunodeficiency|_common_variable|_10|_615577_(3);dbSNP139.ID=rs7897947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7897947" target="_blank">rs7897947</a>;ExAC.Info.AC=29311;ExAC.Info.AN=125278;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=21830;ExAC.Info.AC_Hom=3715;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.662-27T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662T>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369966;SAVANT_GENE=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;SAVANT_INFO=+/7.9kb/23/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.662-27T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFKB2+c.662-27T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104157711">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1067:95	0|0:42,0:42:99:0,126,1517:95	0|1:19,22:41:99:585,0,567:95
10	104157727	.	C	T	10455.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Immunodeficiency|_common_variable|_10|_615577_(3);dbSNP139.ID=rs4919632;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4919632" target="_blank">rs4919632</a>;ExAC.Info.AC=120825;ExAC.Info.AN=125208;ExAC.Info.AF=0.965;ExAC.Info.AC_Het=3814;ExAC.Info.AC_Hom=58431;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.662-11C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RHD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.662C>T;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369966;SAVANT_GENE=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;SAVANT_INFO=+/7.9kb/23/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.662-11C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFKB2+c.662-11C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104157727">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1420,132,0:127	1|1:0,47:47:99:1614,141,0:127	1|1:0,44:44:99:1461,131,0:127
10	104158972	.	CA	C	902.54	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=60;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Immunodeficiency|_common_variable|_10|_615577_(3);dbSNP139.ID=rs11331332;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11331332" target="_blank">rs11331332</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1118-72delA;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1118delA;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gly-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1118delA;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GRR];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1118delA;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:GRR];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1118delA;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369966;SAVANT_GENE=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;SAVANT_INFO=+/7.9kb/23/3.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1118-55delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFKB2+c.1118-55delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104158972">View</a>	GT:AD:DP:GQ:PL:TP	0/1:6,4:10:38:38,0,67:37	0/1:13,16:29:99:206,0,172:37	0/1:14,7:21:88:88,0,158:37
10	104159196	.	A	G	10226.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Immunodeficiency|_common_variable|_10|_615577_(3);dbSNP139.ID=rs4919633;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4919633" target="_blank">rs4919633</a>;ExAC.Info.AC=71636;ExAC.Info.AN=72038;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=38;ExAC.Info.AC_Hom=6582;snpeff.Effect=TF_binding_site_variant[MA0139.1:CTCF];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro423Pro/c.1269A>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369966;SAVANT_GENE=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;SAVANT_INFO=+/7.9kb/23/3.1kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1269A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFKB2+c.1269A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104159196">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1464,126,0:94	1|1:0,43:43:99:1565,129,0:94	1|1:0,32:32:95:1057,95,0:94
10	104160434	.	A	G	20906.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Immunodeficiency|_common_variable|_10|_615577_(3);dbSNP139.ID=rs4919634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4919634" target="_blank">rs4919634</a>;ExAC.Info.AC=124973;ExAC.Info.AN=125382;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=384;ExAC.Info.AC_Hom=61869;snpeff.Effect=sequence_feature[repeat:ANK_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1821A>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1821A>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala607Ala/c.1821A>G;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369966;SAVANT_GENE=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;SAVANT_INFO=+/7.9kb/23/3.1kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1821A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFKB2+c.1821A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104160434">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2679,234,0:127	1|1:0,91:91:99:3127,273,0:127	1|1:0,90:90:99:3146,271,0:127
10	104161168	.	G	A	5506.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=570;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Immunodeficiency|_common_variable|_10|_615577_(3);dbSNP139.ID=rs72845693;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72845693" target="_blank">rs72845693</a>;ExAC.Info.AC=954;ExAC.Info.AN=125860;ExAC.Info.AF=7.580e-03;ExAC.Info.AC_Het=935;ExAC.Info.AC_Hom=8;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2224-38G>A;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2224G>A;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2224G>A;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369966;SAVANT_GENE=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;SAVANT_INFO=+/7.9kb/23/3.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2224-38G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFKB2+c.2224-38G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104161168">View</a>	GT:AD:DP:GQ:PL:TP	0|0:160,0:160:99:0,480,5348:127	0|0:206,0:206:99:0,619,6996:127	0|1:105,99:204:99:2772,0,2875:127
10	104161967	.	T	C	12860.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=686;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Immunodeficiency|_common_variable|_10|_615577_(3);dbSNP139.ID=rs7077329;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7077329" target="_blank">rs7077329</a>;ExAC.Info.AC=56272;ExAC.Info.AN=104482;ExAC.Info.AF=0.539;ExAC.Info.AC_Het=6324;ExAC.Info.AC_Hom=5494;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2579-42T>C;snpeff.Amino_Acid_length=900;snpeff.Gene_Name=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369966;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369966;SAVANT_GENE=NFKB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFKB2" target="_blank">NFKB2</a>;SAVANT_INFO=+/7.9kb/23/3.1kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2579-42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NFKB2+c.2579-42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104161967">View</a>	GT:AD:DP:GQ:PL:TP	0|0:234,0:234:99:0,703,7864:127	0|1:134,121:255:99:3363,0,4010:127	0|1:89,108:197:99:3084,0,2507:127
10	104163569	.	G	A	8936.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11191283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11191283" target="_blank">rs11191283</a>;ExAC.Info.AC=41597;ExAC.Info.AN=126560;ExAC.Info.AF=0.329;ExAC.Info.AC_Het=25569;ExAC.Info.AC_Hom=6731;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2844+30C>T;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=PSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSD" target="_blank">PSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000406432;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000020673;SAVANT_GENE=PSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSD" target="_blank">PSD</a>;SAVANT_INFO=-/16.5kb/17/4.2kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2844+30C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSD+c.2844+30C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104163569">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1504,144,0:127	1|0:29,27:56:99:779,0,814:127	1|0:31,23:54:99:552,0,888:127
10	104184081	.	G	A	10465.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=477;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1044476;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1044476" target="_blank">rs1044476</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=13105;ExAC.Info.AN=125242;ExAC.Info.AF=0.105;ExAC.Info.AC_Het=11559;ExAC.Info.AC_Hom=770;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro117Pro/c.351C>T;snpeff.Amino_Acid_length=287;snpeff.Gene_Name=CUEDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUEDC2" target="_blank">CUEDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369937;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369937;SAVANT_GENE=CUEDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUEDC2" target="_blank">CUEDC2</a>;SAVANT_INFO=-/9.4kb/9/1.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.351C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUEDC2+c.351C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104184081">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,68:144:99:2029,0,2199:127	0|0:190,0:190:99:0,571,6589:127	1|0:74,69:143:99:2040,0,2192:127
10	104184189	.	T	C	5105.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12778231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12778231" target="_blank">rs12778231</a>;ExAC.Info.AC=17382;ExAC.Info.AN=125348;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=14619;ExAC.Info.AC_Hom=1366;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.281-38A>G;snpeff.Amino_Acid_length=287;snpeff.Gene_Name=CUEDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUEDC2" target="_blank">CUEDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369937;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369937;SAVANT_GENE=CUEDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUEDC2" target="_blank">CUEDC2</a>;SAVANT_INFO=-/9.4kb/9/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.281-38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUEDC2+c.281-38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104184189">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,343,4420:127	0|1:63,83:146:99:2571,0,2430:127	0|0:164,1:165:99:0,457,5965:127
10	104184213	.	G	A	8965.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41287462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41287462" target="_blank">rs41287462</a>;ExAC.Info.AC=29528;ExAC.Info.AN=125444;ExAC.Info.AF=0.235;ExAC.Info.AC_Het=21714;ExAC.Info.AC_Hom=3876;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.280+43C>T;snpeff.Amino_Acid_length=287;snpeff.Gene_Name=CUEDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUEDC2" target="_blank">CUEDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369937;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369937;SAVANT_GENE=CUEDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUEDC2" target="_blank">CUEDC2</a>;SAVANT_INFO=-/9.4kb/9/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.280+43C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUEDC2+c.280+43C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104184213">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,56:112:99:1634,0,1616:127	1|0:89,70:159:99:1887,0,3508:127	0|0:170,0:170:99:0,511,6091:127
10	104184953	.	C	G	10467.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11597439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11597439" target="_blank">rs11597439</a>;ExAC.Info.AC=42769;ExAC.Info.AN=125534;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=27259;ExAC.Info.AC_Hom=7660;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=8;snpeff.Amino_Acid_Change=c.-8G>C;snpeff.Amino_Acid_length=287;snpeff.Gene_Name=CUEDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUEDC2" target="_blank">CUEDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369937;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=287;snpeff.Gene_Name=CUEDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUEDC2" target="_blank">CUEDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369937;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369937;SAVANT_GENE=CUEDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUEDC2" target="_blank">CUEDC2</a>;SAVANT_INFO=-/9.4kb/9/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-8G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUEDC2+c.-8G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104184953">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1242,105,0:104	1|0:31,43:74:99:1378,0,852:104	1|0:46,40:86:99:1074,0,1194:104
10	104184981	.	A	G	7667.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11593146;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11593146" target="_blank">rs11593146</a>;ExAC.Info.AC=42494;ExAC.Info.AN=125402;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=26985;ExAC.Info.AC_Hom=7373;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-10-26T>C;snpeff.Amino_Acid_length=287;snpeff.Gene_Name=CUEDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUEDC2" target="_blank">CUEDC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369937;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369937;SAVANT_GENE=CUEDC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUEDC2" target="_blank">CUEDC2</a>;SAVANT_INFO=-/9.4kb/9/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-36T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUEDC2+c.-36T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104184981">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:824,72,0:72	1|0:25,33:58:99:1002,0,723:72	1|0:29,31:60:99:853,0,834:72
10	104210735	.	C	A	744.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2281878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281878" target="_blank">rs2281878</a>;ExAC.Info.AC=23508;ExAC.Info.AN=110156;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=14083;ExAC.Info.AC_Hom=2423;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-18I14.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-18I1410" target="_blank">RP11-18I1410</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg/Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.253C>A;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=C10orf95;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-18I1410" target="_blank">RP11-18I1410</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239125;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Tct;snpeff.Amino_Acid_Change=p.Ala85Ser/c.253G>T;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=C10orf95;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-18I1410" target="_blank">RP11-18I1410</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000239125;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239125;SAVANT_GENE=C10orf95;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf95" target="_blank">C10orf95</a>;SAVANT_INFO=-/1.7kb/2/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.253G>T_p.Ala85Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf95+c.253G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104210735">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1573:125	0|0:43,0:43:99:0,129,1662:125	0|1:15,15:30:99:391,0,460:125
10	104229785	.	C	T	22886.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs41306870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41306870" target="_blank">rs41306870</a>;ExAC.Info.AC=60575;ExAC.Info.AN=126704;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=30105;ExAC.Info.AC_Hom=15145;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.204C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000238936;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.204C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000238936;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro68Pro/c.204C>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000238936;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000238936;SAVANT_GENE=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;SAVANT_INFO=+/15.6kb/10/2.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.204C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM180+c.204C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104229785">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:3792,337,0:127	1|0:64,77:141:99:2298,0,1847:127	1|0:61,59:120:99:1721,0,1859:127
10	104230930	.	TTCGGTGCTGGG	T	7740.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs68007409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=68007409" target="_blank">rs68007409</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.704+57_704+67delTCGGTGCTGGG;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000238936;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000238936;SAVANT_GENE=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;SAVANT_INFO=+/15.6kb/10/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.704+59_704+69del11;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM180+c.704+59_704+69del11+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104230930">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1884,128,0:127	1|0:19,17:36:99:658,0,895:127	1|0:22,11:33:99:396,0,1224:127
10	104231054	.	A	G	3272.04	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11191295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11191295" target="_blank">rs11191295</a>;ExAC.Info.AC=60637;ExAC.Info.AN=126704;ExAC.Info.AF=0.479;ExAC.Info.AC_Het=30095;ExAC.Info.AC_Hom=15198;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val243Val/c.729A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000238936;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000238936;SAVANT_GENE=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;SAVANT_INFO=+/15.6kb/10/2.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.729A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM180+c.729A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104231054">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,9:9:27:365,27,0:27	1|0:16,12:28:99:409,0,464:27	1|0:16,9:25:99:286,0,467:27
10	104232716	.	G	A	29125.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=594;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3740415;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740415" target="_blank">rs3740415</a>;ExAC.Info.AC=60670;ExAC.Info.AN=126704;ExAC.Info.AF=0.479;ExAC.Info.AC_Het=30102;ExAC.Info.AC_Hom=15273;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.925+9G>A;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000238936;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.926G>A;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000238936;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.926G>A;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000238936;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000238936;SAVANT_GENE=TMEM180;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM180" target="_blank">TMEM180</a>;SAVANT_INFO=+/15.6kb/10/2.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.925+9G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM180+c.925+9G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104232716">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,163:164:99:5299,454,0:127	1|0:140,113:253:99:3057,0,3819:127	1|0:79,98:177:99:2798,0,2251:127
10	104240974	.	C	G	1380.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2296578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296578" target="_blank">rs2296578</a>;ExAC.Info.AC=42810;ExAC.Info.AN=126218;ExAC.Info.AF=0.339;ExAC.Info.AC_Het=26579;ExAC.Info.AC_Hom=7265;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.988-45G>C;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369905;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369905;SAVANT_GENE=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;SAVANT_INFO=-/23.5kb/11/2.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.988-45G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTR1A+c.988-45G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104240974">View</a>	GT:AD:DP:GQ:PL:TP	0|0:21,0:21:63:0,63,778:63	0|1:16,15:31:99:473,0,471:63	0|1:8,9:17:99:237,0,228:63
10	104241683	.	G	T	4215.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2296580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296580" target="_blank">rs2296580</a>;ExAC.Info.AC=31876;ExAC.Info.AN=126704;ExAC.Info.AF=0.252;ExAC.Info.AC_Het=22936;ExAC.Info.AC_Hom=4469;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.926-28C>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369905;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369905;SAVANT_GENE=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;SAVANT_INFO=-/23.5kb/11/2.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.926-28C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTR1A+c.926-28C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104241683">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,16:16:48:548,48,0:48	1|0:20,19:39:99:559,0,536:48	1|0:11,13:24:99:347,0,306:48
10	104242886	.	G	A	5729.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2296581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296581" target="_blank">rs2296581</a>;ExAC.Info.AC=41616;ExAC.Info.AN=126702;ExAC.Info.AF=0.328;ExAC.Info.AC_Het=27499;ExAC.Info.AC_Hom=7046;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.91G>A;snpeff.Gene_Name=RP11-18I14.11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-18I1411" target="_blank">RP11-18I1411</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608017;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.658-26C>T;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-18I1411" target="_blank">RP11-18I1411</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369905;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369905;SAVANT_GENE=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;SAVANT_INFO=-/23.5kb/11/2.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.658-26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTR1A+c.658-26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104242886">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,0:95:99:0,286,3404:127	0|1:46,59:105:99:1733,0,1372:127	0|1:44,42:86:99:1150,0,1255:127
10	104244139	.	G	T	4500.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2296582;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296582" target="_blank">rs2296582</a>;ExAC.Info.AC=41417;ExAC.Info.AN=126698;ExAC.Info.AF=0.327;ExAC.Info.AC_Het=27430;ExAC.Info.AC_Hom=6711;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.441-6C>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369905;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.441C>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369905;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369905;SAVANT_GENE=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;SAVANT_INFO=-/23.5kb/11/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.441-6C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTR1A+c.441-6C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104244139">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2951:127	0|1:40,43:83:99:1201,0,1217:127	0|1:53,41:94:99:1068,0,1655:127
10	104245549	.	C	T	1150.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2296585;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296585" target="_blank">rs2296585</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.316-59G>A;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369905;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369905;SAVANT_GENE=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;SAVANT_INFO=-/23.5kb/11/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.316-59G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTR1A+c.316-59G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104245549">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,856:72	0|1:12,13:25:99:400,0,386:72	0|1:10,7:17:99:195,0,360:72
10	104248087	.	T	C	4792.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2296588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296588" target="_blank">rs2296588</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190-55A>G;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369905;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369905;SAVANT_GENE=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;SAVANT_INFO=-/23.5kb/11/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.190-55A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTR1A+c.190-55A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104248087">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,255,2812:127	0|1:58,44:102:99:1297,0,1616:127	0|1:36,36:72:99:1119,0,1107:127
10	104248106	.	T	A	4274.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2296589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296589" target="_blank">rs2296589</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.190-74A>T;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369905;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369905;SAVANT_GENE=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;SAVANT_INFO=-/23.5kb/11/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.190-74A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTR1A+c.190-74A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104248106">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2395:127	0|1:43,40:83:99:1139,0,1211:127	0|1:33,34:67:99:1018,0,837:127
10	104250209	.	CT	C	2594.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs111446950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111446950" target="_blank">rs111446950</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.113+96delA;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369905;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369905;SAVANT_GENE=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;SAVANT_INFO=-/23.5kb/11/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.113+96delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTR1A+c.113+96delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104250209">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1514:125	0|1:21,28:49:99:833,0,601:125	0|1:16,18:34:99:489,0,469:125
10	104250278	.	A	G	9447.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs17709610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17709610" target="_blank">rs17709610</a>;ExAC.Info.AC=31914;ExAC.Info.AN=126704;ExAC.Info.AF=0.252;ExAC.Info.AC_Het=22947;ExAC.Info.AC_Hom=4442;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.113+28T>C;snpeff.Amino_Acid_length=376;snpeff.Gene_Name=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369905;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369905;SAVANT_GENE=ACTR1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTR1A" target="_blank">ACTR1A</a>;SAVANT_INFO=-/23.5kb/11/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.113+28T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACTR1A+c.113+28T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104250278">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1716,150,0:127	1|0:29,37:66:99:1075,0,843:127	1|0:19,25:44:99:693,0,581:127
10	104264107	.	C	T	13909.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Medulloblastoma|_desmoplastic|_155255_(3)|_{Meningioma|_familial|_susceptibility_to}|_607174_(3);dbSNP139.ID=rs2274351;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274351" target="_blank">rs2274351</a>;ExAC.Info.AC=60386;ExAC.Info.AN=126606;ExAC.Info.AF=0.477;ExAC.Info.AC_Het=29438;ExAC.Info.AC_Hom=15055;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.182+16C>T;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183C>T;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183C>T;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369902;SAVANT_GENE=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;SAVANT_INFO=+/129.6kb/12/5.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.182+16C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SUFU+c.182+16C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104264107">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2559,231,0:127	1|0:42,41:83:99:1113,0,1131:127	1|0:44,53:97:99:1552,0,1037:127
10	104268800	.	G	C	28468.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Medulloblastoma|_desmoplastic|_155255_(3)|_{Meningioma|_familial|_susceptibility_to}|_607174_(3);dbSNP139.ID=rs10748822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10748822" target="_blank">rs10748822</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.183-126G>C;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>C;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>C;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369902;SAVANT_GENE=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;SAVANT_INFO=+/129.6kb/12/5.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.183-126G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SUFU+c.183-126G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104268800">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3753,295,0:127	1|1:0,129:129:99:5065,388,0:127	1|1:0,107:107:99:4141,322,0:127
10	104268877	.	G	C	14968.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=777;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Medulloblastoma|_desmoplastic|_155255_(3)|_{Meningioma|_familial|_susceptibility_to}|_607174_(3);dbSNP139.ID=rs2281879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281879" target="_blank">rs2281879</a>;ExAC.Info.AC=43344;ExAC.Info.AN=126704;ExAC.Info.AF=0.342;ExAC.Info.AC_Het=28180;ExAC.Info.AC_Hom=7575;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.183-49G>C;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>C;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>C;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369902;SAVANT_GENE=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;SAVANT_INFO=+/129.6kb/12/5.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.183-49G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SUFU+c.183-49G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104268877">View</a>	GT:AD:DP:GQ:PL:TP	0|0:250,0:250:99:0,750,8372:127	0|1:149,160:309:99:4608,0,4285:127	0|1:122,96:218:99:2896,0,3429:127
10	104356822	.	A	G	10005.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Medulloblastoma|_desmoplastic|_155255_(3)|_{Meningioma|_familial|_susceptibility_to}|_607174_(3);dbSNP139.ID=rs10786690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10786690" target="_blank">rs10786690</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.757-75A>G;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.757A>G;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.757A>G;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369902;SAVANT_GENE=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;SAVANT_INFO=+/129.6kb/12/5.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.757-75A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SUFU+c.757-75A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104356822">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1099,93,0:95	1|1:0,48:48:99:1648,144,0:95	1|1:0,32:32:96:1131,96,0:95
10	104387019	.	T	C	10968.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=467;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Medulloblastoma|_desmoplastic|_155255_(3)|_{Meningioma|_familial|_susceptibility_to}|_607174_(3);dbSNP139.ID=rs12414407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12414407" target="_blank">rs12414407</a>;ExAC.Info.AC=83914;ExAC.Info.AN=126704;ExAC.Info.AF=0.662;ExAC.Info.AC_Het=27852;ExAC.Info.AC_Hom=28015;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1365+19T>C;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369902;SAVANT_GENE=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;SAVANT_INFO=+/129.6kb/12/5.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1365+19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SUFU+c.1365+19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104387019">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,58:126:99:1631,0,1836:127	1|0:88,86:174:99:2568,0,2388:127	0|0:167,0:167:99:0,501,5603:127
10	104389932	.	T	G	49941.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=653;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Medulloblastoma|_desmoplastic|_155255_(3)|_{Meningioma|_familial|_susceptibility_to}|_607174_(3);dbSNP139.ID=rs4917980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4917980" target="_blank">rs4917980</a>;ExAC.Info.AC=126627;ExAC.Info.AN=126700;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=73;ExAC.Info.AC_Hom=63224;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=20;snpeff.Amino_Acid_Change=c.*20T>G;snpeff.Amino_Acid_length=484;snpeff.Gene_Name=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369902;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369902;SAVANT_GENE=SUFU;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SUFU" target="_blank">SUFU</a>;SAVANT_INFO=+/129.6kb/12/5.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*20T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SUFU+c.*20T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104389932">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,216:216:99:7307,648,0:127	1|1:0,226:226:99:7833,679,0:127	1|1:0,211:211:99:7150,634,0:127
10	104436519	.	G	A	8509.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=459;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41308675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41308675" target="_blank">rs41308675</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=132;snpeff.Amino_Acid_Change=c.*132C>T;snpeff.Amino_Acid_length=182;snpeff.Gene_Name=ARL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL3" target="_blank">ARL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260746;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260746;SAVANT_GENE=ARL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL3" target="_blank">ARL3</a>;SAVANT_INFO=-/37.9kb/6/1.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*132C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARL3+c.*132C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104436519">View</a>	GT:AD:DP:GQ:PL:TP	0|1:85,56:141:99:1530,0,2254:127	1|0:87,72:159:99:2038,0,2560:127	0|0:159,0:159:99:0,478,5244:127
10	104445545	.	AG	A	5908.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3832710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3832710" target="_blank">rs3832710</a>;ExAC.Info.AC=53346;ExAC.Info.AN=126494;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=27675;ExAC.Info.AC_Hom=11837;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.501+27delC;snpeff.Amino_Acid_length=182;snpeff.Gene_Name=ARL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL3" target="_blank">ARL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260746;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000260746;SAVANT_GENE=ARL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL3" target="_blank">ARL3</a>;SAVANT_INFO=-/37.9kb/6/1.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.501+27delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARL3+c.501+27delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104445545">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,244,3011:127	0|1:55,54:109:99:1669,0,1733:127	0|1:42,42:84:99:1310,0,1314:127
10	104449836	.	A	G	6094.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs61869211;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61869211" target="_blank">rs61869211</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.265-136T>C;snpeff.Amino_Acid_length=182;snpeff.Gene_Name=ARL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL3" target="_blank">ARL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260746;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260746;SAVANT_GENE=ARL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL3" target="_blank">ARL3</a>;SAVANT_INFO=-/37.9kb/6/1.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.265-136T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARL3+c.265-136T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104449836">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,259,3094:127	0|1:48,52:100:99:1607,0,1431:127	0|1:61,47:108:99:1460,0,1828:127
10	104459079	.	TAA	T	26528.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs59504153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59504153" target="_blank">rs59504153</a>;ExAC.Info.AC=126594;ExAC.Info.AN=126680;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=83;ExAC.Info.AC_Hom=62892;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.264+49_264+50delTT;snpeff.Amino_Acid_length=182;snpeff.Gene_Name=ARL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL3" target="_blank">ARL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260746;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000260746;SAVANT_GENE=ARL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL3" target="_blank">ARL3</a>;SAVANT_INFO=-/37.9kb/6/1.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.264+49_264+50delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARL3+c.264+49_264+50delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104459079">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:3098,208,0:127	1|1:0,105:105:99:4688,316,0:127	1|1:0,95:95:99:4272,286,0:127
10	104474107	.	G	A	15591.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2248679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2248679" target="_blank">rs2248679</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=75;snpeff.Amino_Acid_Change=c.-75C>T;snpeff.Amino_Acid_length=182;snpeff.Gene_Name=ARL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL3" target="_blank">ARL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000260746;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260746;SAVANT_GENE=ARL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL3" target="_blank">ARL3</a>;SAVANT_INFO=-/37.9kb/6/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-75C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARL3+c.-75C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104474107">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1534,152,0:127	1|1:0,68:68:99:2083,203,0:127	1|1:0,44:44:99:1322,132,0:127
10	104486974	.	C	T	3789.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2244524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2244524" target="_blank">rs2244524</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.332+60C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=SFXN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN2" target="_blank">SFXN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=SFXN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN2" target="_blank">SFXN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369893;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.333C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=SFXN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN2" target="_blank">SFXN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369893;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369893;SAVANT_GENE=SFXN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN2" target="_blank">SFXN2</a>;SAVANT_INFO=+/24.7kb/12/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.332+60C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFXN2+c.332+60C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104486974">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,14:31:99:388,0,474:75	0|1:18,13:31:99:356,0,535:75	1|1:0,25:25:75:931,75,0:75
10	104492707	.	G	C	5941.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2778037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2778037" target="_blank">rs2778037</a>;ExAC.Info.AC=96416;ExAC.Info.AN=126644;ExAC.Info.AF=0.761;ExAC.Info.AC_Het=22427;ExAC.Info.AC_Hom=36802;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.771+42G>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=SFXN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN2" target="_blank">SFXN2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369893;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369893;SAVANT_GENE=SFXN2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN2" target="_blank">SFXN2</a>;SAVANT_INFO=+/24.7kb/12/2.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.771+42G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFXN2+c.771+42G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104492707">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,22:41:99:603,0,548:123	0|1:23,18:41:99:586,0,744:123	1|1:0,41:41:99:1333,123,0:123
10	104572276	.	A	G	10470.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs284861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=284861" target="_blank">rs284861</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.356-76A>G;snpeff.Amino_Acid_length=363;snpeff.Gene_Name=WBP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WBP1L" target="_blank">WBP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448841;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448841;SAVANT_GENE=C10orf26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf26" target="_blank">C10orf26</a>;SAVANT_INFO=+/72.3kb/4/4.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.356-76A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf26+c.356-76A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104572276">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1283,99,0:80	1|1:0,50:50:99:1830,150,0:80	1|1:0,27:27:81:1036,81,0:80
10	104572963	.	T	C	16724.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs284860;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=284860" target="_blank">rs284860</a>;ExAC.Info.AC=73686;ExAC.Info.AN=126636;ExAC.Info.AF=0.582;ExAC.Info.AC_Het=30145;ExAC.Info.AC_Hom=21496;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Ccc;snpeff.Amino_Acid_Change=p.Ser323Pro/c.967T>C;snpeff.Amino_Acid_length=363;snpeff.Gene_Name=WBP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WBP1L" target="_blank">WBP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448841;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448841;SAVANT_GENE=C10orf26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf26" target="_blank">C10orf26</a>;SAVANT_INFO=+/72.3kb/4/4.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.967T>C_p.Ser323Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf26+c.967T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104572963">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1941,168,0:127	1|1:0,70:70:99:2498,210,0:127	1|1:0,70:70:99:2522,210,0:127
10	104573017	.	G	T	1888.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs284859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=284859" target="_blank">rs284859</a>;ExAC.Info.AC=23865;ExAC.Info.AN=126530;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=18237;ExAC.Info.AC_Hom=2547;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Tca;snpeff.Amino_Acid_Change=p.Ala341Ser/c.1021G>T;snpeff.Amino_Acid_length=363;snpeff.Gene_Name=WBP1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WBP1L" target="_blank">WBP1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000448841;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448841;SAVANT_GENE=C10orf26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf26" target="_blank">C10orf26</a>;SAVANT_INFO=+/72.3kb/4/4.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1021G>T_p.Ala341Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf26+c.1021G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104573017">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1100:89	0|0:49,0:49:99:0,147,1697:89	0|1:27,33:60:99:963,0,786:89
10	104678350	.	G	A	4226.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypomagnesemia_6|_renal|_613882_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76057237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76057237" target="_blank">rs76057237</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=3952;ExAC.Info.AN=115030;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=2201;ExAC.Info.AC_Hom=71;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.113G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg38Gln/c.113G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369878;SAVANT_GENE=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;SAVANT_INFO=+/160.1kb/8/4.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.113G>A_p.Arg38Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNNM2+c.113G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104678350">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,24:39:99:719,0,402:127	0|0:50,0:50:99:0,150,1767:127	1|0:27,20:47:99:609,0,834:127
10	104814162	.	T	C	21482.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1158;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypomagnesemia_6|_renal|_613882_(3);dbSNP139.ID=rs2275271;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275271" target="_blank">rs2275271</a>;ExAC.Info.AC=52284;ExAC.Info.AN=125058;ExAC.Info.AF=0.418;ExAC.Info.AC_Het=30091;ExAC.Info.AC_Hom=11042;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1842T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1842T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1842T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1842T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1842T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1842T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1842T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1842T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser614Ser/c.1842T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369878;SAVANT_GENE=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;SAVANT_INFO=+/160.1kb/8/4.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1842T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNNM2+c.1842T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104814162">View</a>	GT:AD:DP:GQ:PL:TP	1|0:179,189:368:99:5160,0,4608:127	0|0:419,1:420:99:0,1252,14123:127	1|0:172,198:370:99:5457,0,4723:127
10	104836047	.	T	C	8650.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypomagnesemia_6|_renal|_613882_(3);dbSNP139.ID=rs943036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=943036" target="_blank">rs943036</a>;ExAC.Info.AC=28926;ExAC.Info.AN=96914;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=6694;ExAC.Info.AC_Hom=2310;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2418+20T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2419T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2419T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2419T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2419T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2419T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2419T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2419T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2419T>C;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369878;SAVANT_GENE=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;SAVANT_INFO=+/160.1kb/8/4.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.2418+20T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNNM2+c.2418+20T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104836047">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,67:143:99:1838,0,2104:127	0|0:188,0:188:99:0,565,6173:127	1|0:72,66:138:99:1693,0,2075:127
10	104849468	.	G	A	2322.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3740387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740387" target="_blank">rs3740387</a>;ExAC.Info.AC=52344;ExAC.Info.AN=126672;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=30551;ExAC.Info.AC_Hom=10811;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12531;snpeff.Amino_Acid_Change=c.*12531G>A;snpeff.Amino_Acid_length=875;snpeff.Gene_Name=CNNM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369878;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Asp/Glu-rich__acidic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1647G>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp549Asp/c.1647C>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNNM2" target="_blank">CNNM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343289;SAVANT_GENE=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;SAVANT_INFO=-/107.1kb/18/5.3kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.1647C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NT5C2+c.1647C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104849468">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,12:36:99:300,0,617:90	0|0:30,0:30:90:0,90,951:90	1|0:19,20:39:99:604,0,606:90
10	104851285	.	G	A	2047.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=78;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10883830;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10883830" target="_blank">rs10883830</a>;ExAC.Info.AC=36510;ExAC.Info.AN=126676;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=25606;ExAC.Info.AC_Hom=5397;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1211+36C>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343289;SAVANT_GENE=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;SAVANT_INFO=-/107.1kb/18/5.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1211+36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NT5C2+c.1211+36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104851285">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,13:25:99:391,0,338:75	0|0:25,0:25:75:0,75,932:75	1|0:12,16:28:99:481,0,396:75
10	104851396	.	G	T	2722.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11191553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11191553" target="_blank">rs11191553</a>;ExAC.Info.AC=36546;ExAC.Info.AN=126700;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=25677;ExAC.Info.AC_Hom=5415;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1160-24C>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1160G>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1160G>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343289;SAVANT_GENE=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;SAVANT_INFO=-/107.1kb/18/5.3kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1160-24C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NT5C2+c.1160-24C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104851396">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,26:47:99:719,0,614:127	0|0:63,0:63:99:0,189,2217:127	1|0:32,21:53:99:528,0,936:127
10	104855656	.	T	C	8714.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1926030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1926030" target="_blank">rs1926030</a>;ExAC.Info.AC=53775;ExAC.Info.AN=126692;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=30720;ExAC.Info.AC_Hom=11504;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.813+40A>G;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343289;SAVANT_GENE=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;SAVANT_INFO=-/107.1kb/18/5.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.813+40A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NT5C2+c.813+40A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104855656">View</a>	GT:AD:DP:GQ:PL:TP	1|0:77,48:125:99:1378,0,2064:127	0|0:165,0:165:99:0,496,5371:127	1|0:59,69:128:99:1963,0,1644:127
10	104855670	.	G	A	8022.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1926029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1926029" target="_blank">rs1926029</a>;ExAC.Info.AC=36599;ExAC.Info.AN=126694;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=25703;ExAC.Info.AC_Hom=5431;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.813+26C>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343289;SAVANT_GENE=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;SAVANT_INFO=-/107.1kb/18/5.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.813+26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NT5C2+c.813+26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104855670">View</a>	GT:AD:DP:GQ:PL:TP	1|0:75,50:125:99:1367,0,2188:127	0|0:165,0:165:99:0,495,5584:127	1|0:65,67:132:99:1775,0,1829:127
10	104869451	.	C	T	8021.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=477;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10786738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10786738" target="_blank">rs10786738</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.176-2988G>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176C>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176C>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343289;SAVANT_GENE=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;SAVANT_INFO=-/107.1kb/18/5.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.176-2988G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NT5C2+c.176-2988G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104869451">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,55:136:99:1470,0,2500:127	0|0:198,0:198:99:0,595,7210:127	1|0:76,67:143:99:1908,0,2257:127
10	104869531	.	C	G	12119.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=623;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11191561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11191561" target="_blank">rs11191561</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.176-3068G>C;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176C>G;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176C>G;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343289;SAVANT_GENE=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;SAVANT_INFO=-/107.1kb/18/5.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.176-3068G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NT5C2+c.176-3068G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104869531">View</a>	GT:AD:DP:GQ:PL:TP	0|1:86,98:184:99:2726,0,2439:127	1|0:143,106:249:99:2955,0,4188:127	0|0:189,1:190:99:0,532,6423:127
10	104897985	.	T	C	20667.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=566;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11598702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11598702" target="_blank">rs11598702</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.175+1178A>G;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176T>C;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176T>C;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343289;SAVANT_GENE=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;SAVANT_INFO=-/107.1kb/18/5.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.175+1178A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NT5C2+c.175+1178A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104897985">View</a>	GT:AD:DP:GQ:PL:TP	0|1:88,85:173:99:2639,0,2212:127	1|1:0,202:202:99:7033,607,0:127	0|0:191,0:191:99:0,574,6344:127
10	104899197	.	C	G	7338.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72846108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72846108" target="_blank">rs72846108</a>;ExAC.Info.AC=15;ExAC.Info.AN=125364;ExAC.Info.AF=1.197e-04;ExAC.Info.AC_Het=11;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaG/aaC;snpeff.Amino_Acid_Change=p.Lys47Asn/c.141G>C;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000404739;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343289;SAVANT_GENE=NT5C2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NT5C2" target="_blank">NT5C2</a>;SAVANT_INFO=-/107.1kb/18/5.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.141G>C_p.Lys47Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NT5C2+c.141G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:104899197">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,55:103:99:1726,0,1472:127	1|0:64,57:121:99:1719,0,2117:127	0|0:108,0:108:99:0,325,3967:127
10	105046981	.	G	A	1378.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=58;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72846177;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72846177" target="_blank">rs72846177</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1190+65G>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=INA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INA" target="_blank">INA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Coil_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1191G>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=INA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INA" target="_blank">INA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Coil_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1191G>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=INA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INA" target="_blank">INA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Coil_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1191G>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=INA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INA" target="_blank">INA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1191G>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=INA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INA" target="_blank">INA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369849;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1191G>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=INA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INA" target="_blank">INA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369849;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Rod];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1191G>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=INA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INA" target="_blank">INA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369849;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369849;SAVANT_GENE=INA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INA" target="_blank">INA</a>;SAVANT_INFO=+/13.2kb/3/3.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.1190+65G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INA+c.1190+65G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105046981">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,14:25:99:391,0,369:54	1|0:11,4:15:99:104,0,303:54	0|0:18,0:18:54:0,54,596:54
10	105128134	.	T	G	872.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10883859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10883859" target="_blank">rs10883859</a>;ExAC.Info.AC=30083;ExAC.Info.AN=109462;ExAC.Info.AF=0.275;ExAC.Info.AC_Het=9814;ExAC.Info.AC_Hom=2301;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Gcc;snpeff.Amino_Acid_Change=p.Ser130Ala/c.388T>G;snpeff.Amino_Acid_length=800;snpeff.Gene_Name=TAF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5" target="_blank">TAF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369839;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369839;SAVANT_GENE=TAF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5" target="_blank">TAF5</a>;SAVANT_INFO=+/21.1kb/11/3.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.388T>G_p.Ser130Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF5+c.388T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105128134">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1642:127	0|1:27,14:41:99:455,0,887:127	0|0:44,0:44:99:0,132,1615:127
10	105147740	.	G	A	10597.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=501;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs45589131;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45589131" target="_blank">rs45589131</a>;ExAC.Info.AC=2;ExAC.Info.AN=126688;ExAC.Info.AF=1.579e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2186-23G>A;snpeff.Amino_Acid_length=800;snpeff.Gene_Name=TAF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5" target="_blank">TAF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369839;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2186G>A;snpeff.Amino_Acid_length=800;snpeff.Gene_Name=TAF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5" target="_blank">TAF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369839;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2186G>A;snpeff.Amino_Acid_length=800;snpeff.Gene_Name=TAF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5" target="_blank">TAF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369839;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369839;SAVANT_GENE=TAF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF5" target="_blank">TAF5</a>;SAVANT_INFO=+/21.1kb/11/3.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2186-23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF5+c.2186-23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105147740">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,63:150:99:1555,0,2632:127	0|0:187,0:187:99:0,562,6945:127	1|0:76,88:164:99:2597,0,2319:127
10	105154089	.	A	G	14915.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7911488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7911488" target="_blank">rs7911488</a>;ExAC.Info.AC=42207;ExAC.Info.AN=124720;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=26719;ExAC.Info.AC_Hom=7739;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.70T>C;snpeff.Gene_Name=MIR1307;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR1307" target="_blank">MIR1307</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000408840;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-9-1866T>C;snpeff.Amino_Acid_length=58;snpeff.Gene_Name=USMG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR1307" target="_blank">MIR1307</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309579;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369825;SAVANT_GENE=USMG5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USMG5" target="_blank">USMG5</a>;SAVANT_INFO=-/7.0kb/5/0.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-1875T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USMG5+c.-1875T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105154089">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,53:109:99:1537,0,1444:127	0|0:141,0:141:99:0,423,4956:127	1|1:0,128:128:99:4732,384,0:127
10	105169582	.	A	G	13314.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=540;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41287492;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41287492" target="_blank">rs41287492</a>;ExAC.Info.AC=6561;ExAC.Info.AN=126704;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=6054;ExAC.Info.AC_Hom=247;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.978+19A>G;snpeff.Amino_Acid_length=1871;snpeff.Gene_Name=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369797;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:S1_motif_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.979A>G;snpeff.Amino_Acid_length=1871;snpeff.Gene_Name=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369797;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:S1_motif_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.979A>G;snpeff.Amino_Acid_length=1871;snpeff.Gene_Name=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369797;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:S1_motif_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.979A>G;snpeff.Amino_Acid_length=1871;snpeff.Gene_Name=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369797;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369797;SAVANT_GENE=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;SAVANT_INFO=+/49.6kb/36/6.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.978+19A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDCD11+c.978+19A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105169582">View</a>	GT:AD:DP:GQ:PL:TP	0|1:91,90:181:99:2536,0,2379:127	1|0:98,110:208:99:3329,0,2761:127	0|0:151,0:151:99:0,453,5292:127
10	105177645	.	G	T	4241.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11598673;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11598673" target="_blank">rs11598673</a>;ExAC.Info.AC=6261;ExAC.Info.AN=126704;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5797;ExAC.Info.AC_Hom=232;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Tca;snpeff.Amino_Acid_Change=p.Ala623Ser/c.1867G>T;snpeff.Amino_Acid_length=1871;snpeff.Gene_Name=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369797;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369797;SAVANT_GENE=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;SAVANT_INFO=+/49.6kb/36/6.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1867G>T_p.Ala623Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDCD11+c.1867G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105177645">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,31:67:99:773,0,1014:127	1|0:43,36:79:99:1014,0,1407:127	0|0:60,0:60:99:0,180,2085:127
10	105194086	.	C	T	11044.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2986014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2986014" target="_blank">rs2986014</a>;ExAC.Info.AC=54318;ExAC.Info.AN=126704;ExAC.Info.AF=0.429;ExAC.Info.AC_Het=30365;ExAC.Info.AC_Hom=11969;snpeff.Effect=sequence_feature[domain:S1_motif_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3646C>T;snpeff.Amino_Acid_length=1871;snpeff.Gene_Name=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369797;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:S1_motif_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3646C>T;snpeff.Amino_Acid_length=1871;snpeff.Gene_Name=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369797;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:S1_motif_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3646C>T;snpeff.Amino_Acid_length=1871;snpeff.Gene_Name=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369797;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu1216Phe/c.3646C>T;snpeff.Amino_Acid_length=1871;snpeff.Gene_Name=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369797;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369797;SAVANT_GENE=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;SAVANT_INFO=+/49.6kb/36/6.5kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.3646C>T_p.Leu1216Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDCD11+c.3646C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105194086">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,51:100:99:1573,0,1451:127	0|0:136,0:136:99:0,409,5048:127	1|1:0,94:94:99:3231,282,0:127
10	105205302	.	A	C	1596.31	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7831" target="_blank">rs7831</a>;ExAC.Info.AC=47611;ExAC.Info.AN=126698;ExAC.Info.AF=0.376;ExAC.Info.AC_Het=29341;ExAC.Info.AC_Hom=9018;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gCc;snpeff.Amino_Acid_Change=p.Asp1871Ala/c.5612A>C;snpeff.Amino_Acid_length=1871;snpeff.Gene_Name=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369797;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369797;SAVANT_GENE=PDCD11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD11" target="_blank">PDCD11</a>;SAVANT_INFO=+/49.6kb/36/6.5kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.5612A>C_p.Asp1871Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDCD11+c.5612A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105205302">View</a>	GT:AD:DP:GQ:PL:TP	1|0:2,8:10:44:289,0,44:33	0|0:24,0:24:72:0,72,877:33	1|1:0,11:11:33:434,33,0:33
10	105206874	.	T	C	4141.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs6580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6580" target="_blank">rs6580</a>;ExAC.Info.AC=47563;ExAC.Info.AN=126242;ExAC.Info.AF=0.377;ExAC.Info.AC_Het=27235;ExAC.Info.AC_Hom=8737;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=35;snpeff.Amino_Acid_Change=c.*35A>G;snpeff.Amino_Acid_length=323;snpeff.Gene_Name=CALHM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALHM2" target="_blank">CALHM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369788;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260743;SAVANT_GENE=CALHM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALHM2" target="_blank">CALHM2</a>;SAVANT_INFO=-/5.5kb/4/1.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*35A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALHM2+c.*35A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105206874">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,20:38:99:540,0,435:96	0|0:35,1:36:97:0,97,1131:96	1|1:0,35:35:99:1195,105,0:96
10	105214932	.	T	C	10444.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs729211;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=729211" target="_blank">rs729211</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.391+1939T>C;snpeff.Gene_Name=RP11-225H22.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000411906;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=87;snpeff.Amino_Acid_Change=c.*87A>G;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329905;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329905;SAVANT_GENE=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALHM1" target="_blank">CALHM1</a>;SAVANT_INFO=-/5.5kb/2/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*87A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALHM1+c.*87A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105214932">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,37:78:99:914,0,1212:127	1|1:0,104:104:99:3473,313,0:127	0|0:80,0:80:99:0,240,2686:127
10	105215016	.	A	G	15481.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2986016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2986016" target="_blank">rs2986016</a>;ExAC.Info.AC=98484;ExAC.Info.AN=125362;ExAC.Info.AF=0.786;ExAC.Info.AC_Het=14716;ExAC.Info.AC_Hom=29921;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.391+2023A>G;snpeff.Gene_Name=RP11-225H22.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000411906;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3;snpeff.Amino_Acid_Change=c.*3T>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329905;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329905;SAVANT_GENE=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALHM1" target="_blank">CALHM1</a>;SAVANT_INFO=-/5.5kb/2/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*3T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALHM1+c.*3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105215016">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1672,135,0:127	1|1:0,64:64:99:2364,192,0:127	1|1:0,55:55:99:2069,165,0:127
10	105218252	.	A	G	50181.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=516;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2986017;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2986017" target="_blank">rs2986017</a>;ExAC.Info.AC=98322;ExAC.Info.AN=125636;ExAC.Info.AF=0.783;ExAC.Info.AC_Het=19432;ExAC.Info.AC_Hom=37912;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.392-3935A>G;snpeff.Gene_Name=RP11-225H22.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000411906;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.257A>G;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329905;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu86Pro/c.257T>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329905;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329905;SAVANT_GENE=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALHM1" target="_blank">CALHM1</a>;SAVANT_INFO=-/5.5kb/2/3.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.257T>C_p.Leu86Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALHM1+c.257T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105218252">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:6068,477,0:127	1|1:0,212:212:99:9565,650,0:127	1|1:0,147:147:99:4789,440,0:127
10	105218254	.	C	T	21162.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=513;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4918016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4918016" target="_blank">rs4918016</a>;ExAC.Info.AC=41086;ExAC.Info.AN=126058;ExAC.Info.AF=0.326;ExAC.Info.AC_Het=26123;ExAC.Info.AC_Hom=6860;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.392-3933C>T;snpeff.Gene_Name=RP11-225H22.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000411906;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.255C>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329905;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro85Pro/c.255G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329905;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329905;SAVANT_GENE=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALHM1" target="_blank">CALHM1</a>;SAVANT_INFO=-/5.5kb/2/3.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.255G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALHM1+c.255G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105218254">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,81:155:99:2243,0,1905:127	1|1:0,210:210:99:6868,629,0:127	0|0:148,0:148:99:0,445,5024:127
10	105218359	.	T	C	38614.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=476;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2986018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2986018" target="_blank">rs2986018</a>;ExAC.Info.AC=102601;ExAC.Info.AN=126662;ExAC.Info.AF=0.810;ExAC.Info.AC_Het=18694;ExAC.Info.AC_Hom=41693;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.392-3828T>C;snpeff.Gene_Name=RP11-225H22.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000411906;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.150T>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329905;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala50Ala/c.150A>G;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-225H224" target="_blank">RP11-225H224</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329905;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329905;SAVANT_GENE=CALHM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALHM1" target="_blank">CALHM1</a>;SAVANT_INFO=-/5.5kb/2/3.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.150A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALHM1+c.150A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105218359">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4622,412,0:127	1|1:0,179:179:99:6295,538,0:127	1|1:0,160:160:99:5338,480,0:127
10	105233110	.	C	T	23552.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2986035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2986035" target="_blank">rs2986035</a>;ExAC.Info.AC=18122;ExAC.Info.AN=24590;ExAC.Info.AF=0.737;ExAC.Info.AC_Het=2538;ExAC.Info.AC_Hom=4051;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp299Asn/c.895G>A;snpeff.Amino_Acid_length=344;snpeff.Gene_Name=CALHM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALHM3" target="_blank">CALHM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369783;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369783;SAVANT_GENE=CALHM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALHM3" target="_blank">CALHM3</a>;SAVANT_INFO=-/6.4kb/3/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.895G>A_p.Asp299Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALHM3+c.895G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105233110">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,102:102:99:3295,306,0:127	1|1:0,88:88:99:3098,265,0:127	1|1:0,86:86:99:3030,262,0:127
10	105344451	.	G	A	17596.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=443;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11191737;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11191737" target="_blank">rs11191737</a>;ExAC.Info.AC=20039;ExAC.Info.AN=99204;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=7714;ExAC.Info.AC_Hom=1609;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly270Ser/c.808G>A;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=NEURL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEURL" target="_blank">NEURL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369780;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369780;SAVANT_GENE=NEURL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEURL" target="_blank">NEURL</a>;SAVANT_INFO=+/98.6kb/6/4.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.808G>A_p.Gly270Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEURL+c.808G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105344451">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,91:151:99:2342,0,1450:127	0|0:152,0:152:99:0,457,4938:127	1|1:2,138:140:99:4737,371,0:127
10	105344756	.	T	C	6709.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2236209;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2236209" target="_blank">rs2236209</a>;ExAC.Info.AC=56981;ExAC.Info.AN=114416;ExAC.Info.AF=0.498;ExAC.Info.AC_Het=16883;ExAC.Info.AC_Hom=9759;snpeff.Effect=sequence_feature[domain:NHR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1113T>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=NEURL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEURL" target="_blank">NEURL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369780;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:NHR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1113T>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=NEURL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEURL" target="_blank">NEURL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369780;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro371Pro/c.1113T>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=NEURL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEURL" target="_blank">NEURL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369780;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369780;SAVANT_GENE=NEURL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEURL" target="_blank">NEURL</a>;SAVANT_INFO=+/98.6kb/6/4.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1113T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NEURL+c.1113T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105344756">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,30:54:99:897,0,702:96	0|1:29,24:53:99:794,0,826:96	1|1:0,32:32:96:1207,96,0:96
10	105361816	.	T	G	16914.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4918031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4918031" target="_blank">rs4918031</a>;ExAC.Info.AC=103803;ExAC.Info.AN=126642;ExAC.Info.AF=0.820;ExAC.Info.AC_Het=17391;ExAC.Info.AC_Hom=42376;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atA/atC;snpeff.Amino_Acid_Change=p.Ile1053Ile/c.3159A>C;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355946;SAVANT_GENE=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;SAVANT_INFO=-/261.4kb/14/11.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.3075A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3PXD2A+c.3075A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105361816">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,50:99:99:1467,0,1214:127	0|1:78,65:143:99:1899,0,2049:127	1|1:0,110:110:99:3966,331,0:127
10	105362104	.	G	A	10384.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11191741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11191741" target="_blank">rs11191741</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=44937;ExAC.Info.AN=126668;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=27210;ExAC.Info.AC_Hom=8719;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe957Phe/c.2871C>T;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355946;SAVANT_GENE=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;SAVANT_INFO=-/261.4kb/14/11.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2787C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3PXD2A+c.2787C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105362104">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,47:85:99:1398,0,1041:127	0|0:115,0:115:99:0,344,3871:127	1|1:0,84:84:99:2989,253,0:127
10	105362209	.	T	C	19019.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4917396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4917396" target="_blank">rs4917396</a>;ExAC.Info.AC=106098;ExAC.Info.AN=126704;ExAC.Info.AF=0.837;ExAC.Info.AC_Het=16146;ExAC.Info.AC_Hom=44957;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2766T>C;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys922Lys/c.2766A>G;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355946;SAVANT_GENE=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;SAVANT_INFO=-/261.4kb/14/11.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2682A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3PXD2A+c.2682A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105362209">View</a>	GT:AD:DP:GQ:PL:TP	1|0:77,68:145:99:1920,0,2038:127	0|1:92,75:167:99:2300,0,2755:127	1|1:0,111:111:99:4073,334,0:127
10	105363289	.	T	C	3148.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=346;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740471" target="_blank">rs3740471</a>;ExAC.Info.AC=23459;ExAC.Info.AN=126694;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=18681;ExAC.Info.AC_Hom=2334;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala562Ala/c.1686A>G;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355946;SAVANT_GENE=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;SAVANT_INFO=-/261.4kb/14/11.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1602A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3PXD2A+c.1602A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105363289">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,294,3352:127	0|1:71,56:127:99:1592,0,2051:127	0|0:121,0:121:99:0,363,4154:127
10	105428453	.	CAG	C	11760.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=278;MQ=70.01;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10533306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10533306" target="_blank">rs10533306</a>;ExAC.Info.AC=75997;ExAC.Info.AN=91312;ExAC.Info.AF=0.832;ExAC.Info.AC_Het=2220;ExAC.Info.AC_Hom=9987;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.428-45_428-44delCT;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000355946;SAVANT_GENE=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;SAVANT_INFO=-/261.4kb/14/11.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.428-45_428-44delCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3PXD2A+c.428-45_428-44delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105428453">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,55:110:99:1403,0,1775:127	0|1:53,40:93:99:1061,0,1827:127	1|1:0,75:75:99:2352,224,0:127
10	105484018	.	T	C	2448.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs45564336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45564336" target="_blank">rs45564336</a>;ExAC.Info.AC=14552;ExAC.Info.AN=126700;ExAC.Info.AF=0.115;ExAC.Info.AC_Het=12541;ExAC.Info.AC_Hom=885;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.398+10A>G;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355946;SAVANT_GENE=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;SAVANT_INFO=-/261.4kb/14/11.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.398+10A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3PXD2A+c.398+10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105484018">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2071:127	0|1:32,41:73:99:1243,0,896:127	0|0:45,0:45:99:0,135,1574:127
10	105495612	.	T	C	1214.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6584568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6584568" target="_blank">rs6584568</a>;ExAC.Info.AC=44313;ExAC.Info.AN=126702;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=27482;ExAC.Info.AC_Hom=8394;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.230-46A>G;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PX];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230T>C;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PX];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230T>C;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PX];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230T>C;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PX];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230T>C;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PX];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230T>C;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355946;SAVANT_GENE=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;SAVANT_INFO=-/261.4kb/14/11.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.230-46A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3PXD2A+c.230-46A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105495612">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1580:127	0|1:33,25:58:99:626,0,882:127	0|0:44,0:44:99:0,132,1449:127
10	105615074	.	C	T	27573.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10883928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10883928" target="_blank">rs10883928</a>;ExAC.Info.AC=10211;ExAC.Info.AN=39856;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=4303;ExAC.Info.AC_Hom=1675;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=50;snpeff.Amino_Acid_Change=c.-50G>A;snpeff.Amino_Acid_length=1133;snpeff.Gene_Name=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369774;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355946;SAVANT_GENE=SH3PXD2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3PXD2A" target="_blank">SH3PXD2A</a>;SAVANT_INFO=-/261.4kb/14/11.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-50G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SH3PXD2A+c.-50G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105615074">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3462,324,0:127	1|1:0,131:131:99:4082,392,0:127	1|0:59,57:116:99:1590,0,1664:127
10	105657363	.	C	G	376.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11191853;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11191853" target="_blank">rs11191853</a>;ExAC.Info.AC=25414;ExAC.Info.AN=126704;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=20012;ExAC.Info.AC_Hom=2696;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtC;snpeff.Amino_Acid_Change=p.Val232Val/c.696G>C;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=OBFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBFC1" target="_blank">OBFC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369764;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224950;SAVANT_GENE=OBFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBFC1" target="_blank">OBFC1</a>;SAVANT_INFO=-/35.7kb/10/1.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.696G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBFC1+c.696G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105657363">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2075:127	0|0:64,0:64:99:0,192,2218:127	0|1:23,8:31:99:207,0,778:127
10	105659826	.	T	C	15342.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2487999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2487999" target="_blank">rs2487999</a>;ExAC.Info.AC=114936;ExAC.Info.AN=126696;ExAC.Info.AF=0.907;ExAC.Info.AC_Het=9747;ExAC.Info.AC_Hom=52561;snpeff.Effect=sequence_feature[DNA-binding_region:OB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451T>C;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=OBFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBFC1" target="_blank">OBFC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369764;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:OB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451T>C;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=OBFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBFC1" target="_blank">OBFC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369764;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:OB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451T>C;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=OBFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBFC1" target="_blank">OBFC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369764;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:OB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451T>C;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=OBFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBFC1" target="_blank">OBFC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369764;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451T>C;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=OBFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBFC1" target="_blank">OBFC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369764;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451T>C;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=OBFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBFC1" target="_blank">OBFC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369764;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr151Ala/c.451A>G;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=OBFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBFC1" target="_blank">OBFC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369764;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000224950;SAVANT_GENE=OBFC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBFC1" target="_blank">OBFC1</a>;SAVANT_INFO=-/35.7kb/10/1.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.451A>G_p.Thr151Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OBFC1+c.451A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105659826">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2059,188,0:127	1|1:0,64:64:99:2292,192,0:127	1|1:0,51:51:99:1774,153,0:127
10	105752331	.	CT	C	529.52	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=43;MQ=69.91;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs35624310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35624310" target="_blank">rs35624310</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.316-24delT;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316delT;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316delT;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316delT;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316delT;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316delT;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316delT;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316delT;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316delT;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316delT;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316delT;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369755;SAVANT_GENE=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;SAVANT_INFO=+/62.0kb/19/7.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.316-9delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLK+c.316-9delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105752331">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,8:16:99:120,0,146:21	0/1:10,12:22:99:171,0,136:21	0/1:3,2:5:21:21,0,45:21
10	105781532	.	C	T	19661.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10883961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10883961" target="_blank">rs10883961</a>;ExAC.Info.AC=63627;ExAC.Info.AN=125920;ExAC.Info.AF=0.505;ExAC.Info.AC_Het=25587;ExAC.Info.AC_Hom=14165;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3561+41C>T;snpeff.Amino_Acid_length=1235;snpeff.Gene_Name=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369755;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369755;SAVANT_GENE=SLK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLK" target="_blank">SLK</a>;SAVANT_INFO=+/62.0kb/19/7.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.3561+41C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLK+c.3561+41C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105781532">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3457,312,0:127	1|0:54,57:111:99:1720,0,1490:127	1|1:0,99:99:99:3412,298,0:127
10	105793173	.	T	G	29170.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs1747675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1747675" target="_blank">rs1747675</a>;ExAC.Info.AC=125841;ExAC.Info.AN=126478;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=453;ExAC.Info.AC_Hom=54341;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4157-40A>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=55;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4157T>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=In52/53;SAVANT_HGVS=c.4157-40A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.4157-40A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105793173">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3290,291,0:127	1|1:0,143:143:99:5082,430,0:127	1|1:0,123:123:99:3887,368,0:127
10	105796399	.	G	C	16028.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs2274098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274098" target="_blank">rs2274098</a>;ExAC.Info.AC=98723;ExAC.Info.AN=126694;ExAC.Info.AF=0.779;ExAC.Info.AC_Het=20295;ExAC.Info.AC_Hom=38669;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3278-9C>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3278G>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3278G>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3278G>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3278G>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=In47/48;SAVANT_HGVS=c.3278-9C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.3278-9C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105796399">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2109,180,0:127	1|1:0,70:70:99:2685,211,0:127	1|1:0,64:64:99:2063,192,0:127
10	105796449	.	A	G	10034.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs2476957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2476957" target="_blank">rs2476957</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3278-59T>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3278A>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3278A>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3278A>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3278A>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3278A>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3278A>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=In47/48;SAVANT_HGVS=c.3278-59T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.3278-59T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105796449">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1495,117,0:101	1|1:0,42:42:99:1488,126,0:101	1|1:0,34:34:99:1292,102,0:101
10	105796819	.	A	G	18480.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs2476958;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2476958" target="_blank">rs2476958</a>;ExAC.Info.AC=126042;ExAC.Info.AN=126546;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=399;ExAC.Info.AC_Hom=58096;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3261A>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3261A>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3261A>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3261A>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile1087Ile/c.3261T>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=Ex47;SAVANT_HGVS=c.3261T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.3261T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105796819">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:2139,165,0:127	1|1:0,85:85:99:3178,256,0:127	1|1:0,65:65:99:2420,195,0:127
10	105797378	.	G	A	42583.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=538;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs2282437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2282437" target="_blank">rs2282437</a>;ExAC.Info.AC=98546;ExAC.Info.AN=126704;ExAC.Info.AF=0.778;ExAC.Info.AC_Het=20430;ExAC.Info.AC_Hom=39048;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3208+16C>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=In46/47;SAVANT_HGVS=c.3208+16C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.3208+16C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105797378">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:5821,508,0:127	1|1:0,187:187:99:6560,562,0:127	1|1:0,182:182:99:6013,546,0:127
10	105798872	.	T	C	14540.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs2274100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274100" target="_blank">rs2274100</a>;ExAC.Info.AC=98360;ExAC.Info.AN=126704;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=20668;ExAC.Info.AC_Hom=38821;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2904T>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=Ex44;SAVANT_HGVS=c.2904A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.2904A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105798872">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1842,165,0:127	1|1:0,66:66:99:2256,198,0:127	1|1:0,60:60:99:2069,180,0:127
10	105799216	.	G	T	45403.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=581;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs2296219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296219" target="_blank">rs2296219</a>;ExAC.Info.AC=98401;ExAC.Info.AN=126704;ExAC.Info.AF=0.777;ExAC.Info.AC_Het=20532;ExAC.Info.AC_Hom=38929;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2883G>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2883G>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccA;snpeff.Amino_Acid_Change=p.Pro961Pro/c.2883C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=Ex43;SAVANT_HGVS=c.2883C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.2883C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105799216">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,190:190:99:6206,571,0:127	1|1:0,215:215:99:7258,646,0:127	1|1:0,176:176:99:6144,529,0:127
10	105799599	.	C	A	7790.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs11191905;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11191905" target="_blank">rs11191905</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2788+132G>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2789C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2789C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.2788+132G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.2788+132G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105799599">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1145,90,0:83	1|1:0,28:28:84:1068,84,0:83	1|1:0,33:33:99:1182,99,0:83
10	105801253	.	G	A	19363.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs4918079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4918079" target="_blank">rs4918079</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Ossification_of_posterior_longitudinal_ligament|_association_with;hgmd_2014.2.OMIM_ID=113811;hgmd_2014.2.PubMed=24668667;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24668667" target="_blank">24668667</a>;ExAC.Info.AC=97435;ExAC.Info.AN=126680;ExAC.Info.AF=0.769;ExAC.Info.AC_Het=20897;ExAC.Info.AC_Hom=37863;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2595G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg865Arg/c.2595C>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=Ex37;SAVANT_HGVS=c.2595C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.2595C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105801253">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:1901,180,0:127	1|1:0,98:98:99:3406,295,0:127	1|1:0,67:67:99:2440,202,0:127
10	105805436	.	G	A	10876.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs805720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=805720" target="_blank">rs805720</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2398+80C>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=55;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2399G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.2398+80C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.2398+80C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105805436">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1330,120,0:107	1|1:0,43:43:99:1482,129,0:107	1|1:0,36:36:99:1318,108,0:107
10	105805497	.	C	T	12855.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs813944;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=813944" target="_blank">rs813944</a>;ExAC.Info.AC=62708;ExAC.Info.AN=126704;ExAC.Info.AF=0.495;ExAC.Info.AC_Het=30541;ExAC.Info.AC_Hom=16066;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2398+19G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.2398+19G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.2398+19G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105805497">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1667,165,0:127	1|1:0,70:70:99:2313,210,0:127	1|0:35,29:64:99:750,0,978:127
10	105810400	.	T	C	18392.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs805722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=805722" target="_blank">rs805722</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=98744;ExAC.Info.AN=126704;ExAC.Info.AF=0.779;ExAC.Info.AC_Het=20671;ExAC.Info.AC_Hom=39035;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2107T>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2107T>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2107T>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2107T>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2107T>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2107T>C;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met703Val/c.2107A>G;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.2107A>G_p.Met703Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.2107A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105810400">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2627,240,0:127	1|1:0,77:77:99:2796,231,0:127	1|1:0,66:66:99:2344,198,0:127
10	105812932	.	G	A	6815.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs72821450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72821450" target="_blank">rs72821450</a>;ExAC.Info.AC=662;ExAC.Info.AN=126690;ExAC.Info.AF=5.225e-03;ExAC.Info.AC_Het=652;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1835-39C>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1835G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1835G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.1835-39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.1835-39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105812932">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,50:104:99:1487,0,1728:127	0|0:102,0:102:99:0,307,3878:127	1|0:30,47:77:99:1353,0,928:127
10	105814826	.	C	A	29423.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs805691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=805691" target="_blank">rs805691</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1718-61G>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Triple-helical_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=49;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1718C>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1718-61G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.1718-61G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105814826">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:3791,357,0:127	1|1:0,130:130:99:4310,391,0:127	1|1:0,122:122:99:4268,367,0:127
10	105815454	.	G	A	38395.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=510;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs805694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=805694" target="_blank">rs805694</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1687+86C>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1688G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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10	105816916	.	C	T	6518.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs805698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=805698" target="_blank">rs805698</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Ossification_of_posterior_longitudinal_ligament|_association_with;hgmd_2014.2.OMIM_ID=113811;hgmd_2014.2.PubMed=24668667;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24668667" target="_blank">24668667</a>;ExAC.Info.AC=118360;ExAC.Info.AN=126688;ExAC.Info.AF=0.934;ExAC.Info.AC_Het=5908;ExAC.Info.AC_Hom=56060;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1282C>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1282C>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1282G>A_p.Gly428Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.1282G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105816916">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,22:22:66:738,66,0:86	1|1:0,29:29:87:1022,87,0:86	1|1:0,33:33:99:1044,99,0:86
10	105819956	.	G	A	42984.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=538;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs805701;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=805701" target="_blank">rs805701</a>;ExAC.Info.AC=81966;ExAC.Info.AN=126704;ExAC.Info.AF=0.647;ExAC.Info.AC_Het=27312;ExAC.Info.AC_Hom=27325;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1062G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1062G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala354Ala/c.1062C>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1062C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.1062C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105819956">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,184:184:99:6142,553,0:127	1|1:0,200:200:99:7309,601,0:127	1|1:0,154:154:99:5452,463,0:127
10	105821136	.	A	T	20742.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbSNP139.ID=rs805704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=805704" target="_blank">rs805704</a>;ExAC.Info.AC=119099;ExAC.Info.AN=126682;ExAC.Info.AF=0.940;ExAC.Info.AC_Het=6078;ExAC.Info.AC_Hom=55865;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.979+27T>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.980A>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.980A>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.979+27T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.979+27T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105821136">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2467,234,0:127	1|1:0,117:117:99:3926,351,0:127	1|1:0,74:74:99:2523,222,0:127
10	105824333	.	G	A	19252.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3)|Epidermolysis_bullosa|_junctional|_non-Herlitz_type|_226650_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs805708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=805708" target="_blank">rs805708</a>;ExAC.Info.AC=84268;ExAC.Info.AN=126678;ExAC.Info.AF=0.665;ExAC.Info.AC_Het=26418;ExAC.Info.AC_Hom=28350;snpeff.Effect=sequence_feature[region_of_interest:Necessary_for_interaction_with_DST_and_for_the_recruitment_of_DST_to_hemidesmosome];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.629G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a 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target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.629G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.629G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Nonhelical_region__NC16_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.629G>A;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr210Met/c.629C>T;snpeff.Amino_Acid_length=1497;snpeff.Gene_Name=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000353479;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000353479;SAVANT_GENE=COL17A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL17A1" target="_blank">COL17A1</a>;SAVANT_INFO=-/54.7kb/56/5.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.629C>T_p.Thr210Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=COL17A1+c.629C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105824333">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2215,201,0:127	1|1:0,71:71:99:2482,213,0:127	1|1:0,86:86:99:3008,258,0:127
10	105885525	.	C	CT	183.4	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=28;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=64;snpeff.Amino_Acid_Change=c.*64_*65insT;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=SFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFR1" target="_blank">SFR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336358;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369727;SAVANT_GENE=SFR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFR1" target="_blank">SFR1</a>;SAVANT_INFO=+/4.2kb/4/1.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*78dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFR1+c.*78dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105885525">View</a>	GT:AD:DP:GQ:PL:TP	0|0:10,2:12:0:0,0,138:2	0|1:6,5:11:75:75,0,87:2	0|0:5,0:5:15:0,15,123:2
10	105956776	.	A	G	1252.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=145;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs584309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=584309" target="_blank">rs584309</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1213-85T>C;snpeff.Amino_Acid_length=1665;snpeff.Gene_Name=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357060;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1213A>G;snpeff.Amino_Acid_length=1665;snpeff.Gene_Name=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357060;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1213A>G;snpeff.Amino_Acid_length=1665;snpeff.Gene_Name=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357060;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357060;SAVANT_GENE=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;SAVANT_INFO=-/102.5kb/38/5.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1213-85T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR96+c.1213-85T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105956776">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,1881:127	0|0:46,0:46:99:0,138,1521:127	0|1:17,22:39:99:645,0,483:127
10	105957714	.	A	G	1882.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10883979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10883979" target="_blank">rs10883979</a>;ExAC.Info.AC=8026;ExAC.Info.AN=126694;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=7299;ExAC.Info.AC_Hom=359;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1178A>G;snpeff.Amino_Acid_length=1665;snpeff.Gene_Name=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357060;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1178A>G;snpeff.Amino_Acid_length=1665;snpeff.Gene_Name=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357060;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile393Thr/c.1178T>C;snpeff.Amino_Acid_length=1665;snpeff.Gene_Name=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357060;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357060;SAVANT_GENE=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;SAVANT_INFO=-/102.5kb/38/5.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1178T>C_p.Ile393Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR96+c.1178T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105957714">View</a>	GT:AD:DP:GQ:PL:TP	0|0:88,0:88:99:0,264,2953:127	0|0:110,0:110:99:0,330,3681:127	0|1:42,35:77:99:960,0,1254:127
10	105973981	.	C	G	2918.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=468;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs584082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=584082" target="_blank">rs584082</a>;ExAC.Info.AC=26050;ExAC.Info.AN=126552;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=19607;ExAC.Info.AC_Hom=2821;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.584+36G>C;snpeff.Amino_Acid_length=1665;snpeff.Gene_Name=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357060;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357060;SAVANT_GENE=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;SAVANT_INFO=-/102.5kb/38/5.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.584+36G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR96+c.584+36G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105973981">View</a>	GT:AD:DP:GQ:PL:TP	0|0:159,0:159:99:0,477,5500:127	0|0:185,0:185:99:0,555,6452:127	0|1:73,51:124:99:1478,0,2354:127
10	105991884	.	T	G	12596.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs789577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=789577" target="_blank">rs789577</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.65+56A>C;snpeff.Amino_Acid_length=1665;snpeff.Gene_Name=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357060;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357060;SAVANT_GENE=WDR96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR96" target="_blank">WDR96</a>;SAVANT_INFO=-/102.5kb/38/5.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.65+56A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR96+c.65+56A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:105991884">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1187,105,0:127	1|1:0,53:53:99:1769,159,0:127	1|1:0,47:47:99:1575,141,0:127
10	106014706	.	G	A	1956.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72559704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72559704" target="_blank">rs72559704</a>;ExAC.Info.AC=257;ExAC.Info.AN=126468;ExAC.Info.AF=2.032e-03;ExAC.Info.AC_Het=234;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg7Lys/c.20G>A;snpeff.Amino_Acid_length=241;snpeff.Gene_Name=GSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTO1" target="_blank">GSTO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369713;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369713;SAVANT_GENE=GSTO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTO1" target="_blank">GSTO1</a>;SAVANT_INFO=+/12.7kb/6/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.20G>A_p.Arg7Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTO1+c.20G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106014706">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1670:127	0|1:27,35:62:99:997,0,785:127	0|0:48,0:48:99:0,144,1544:127
10	106028157	.	G	T	7912.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=877;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs641071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=641071" target="_blank">rs641071</a>;ExAC.Info.AC=646;ExAC.Info.AN=3632;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=2;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.21C>A;snpeff.Gene_Name=MIR4482-1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4482-1" target="_blank">MIR4482-1</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000583050;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR4482-1" target="_blank">MIR4482-1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIR4482-1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106028157">View</a>	GT:AD:DP:GQ:PL:TP	0|0:287,0:287:99:0,862,9776:127	0|0:331,1:332:99:0,958,11773:127	0|1:114,144:258:99:3975,0,3404:127
10	106039185	.	A	G	1668.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs156697;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=156697" target="_blank">rs156697</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Ovarian_cancer|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=612314;hgmd_2014.2.PubMed=16761626;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16761626" target="_blank">16761626</a>;ExAC.Info.AC=45011;ExAC.Info.AN=126704;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=26770;ExAC.Info.AC_Hom=9113;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.424A>G;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=GSTO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTO2" target="_blank">GSTO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338595;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.424A>G;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=GSTO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTO2" target="_blank">GSTO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338595;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.424A>G;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=GSTO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTO2" target="_blank">GSTO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338595;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.424A>G;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=GSTO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTO2" target="_blank">GSTO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338595;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.424A>G;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=GSTO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTO2" target="_blank">GSTO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338595;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:GST_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.424A>G;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=GSTO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTO2" target="_blank">GSTO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338595;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn142Asp/c.424A>G;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=GSTO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTO2" target="_blank">GSTO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338595;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369708;SAVANT_GENE=GSTO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSTO2" target="_blank">GSTO2</a>;SAVANT_INFO=+/30.5kb/7/1.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.424A>G_p.Asn142Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GSTO2+c.424A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106039185">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1730:127	0|0:63,0:63:99:0,189,2097:127	0|1:30,28:58:99:853,0,820:127
10	106075081	.	G	A	10617.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs34043167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34043167" target="_blank">rs34043167</a>;ExAC.Info.AC=13198;ExAC.Info.AN=126354;ExAC.Info.AF=0.104;ExAC.Info.AC_Het=10806;ExAC.Info.AC_Hom=970;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile243Ile/c.729C>T;snpeff.Amino_Acid_length=547;snpeff.Gene_Name=ITPRIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPRIP" target="_blank">ITPRIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278071;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278071;SAVANT_GENE=ITPRIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPRIP" target="_blank">ITPRIP</a>;SAVANT_INFO=-/21.8kb/3/4.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.729C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITPRIP+c.729C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106075081">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,37:61:99:1068,0,699:127	1|1:0,111:111:99:3844,334,0:127	0|0:43,0:43:99:0,129,1647:127
10	106075500	.	G	A	1502.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs114174365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114174365" target="_blank">rs114174365</a>;ExAC.Info.AC=414;ExAC.Info.AN=126682;ExAC.Info.AF=3.268e-03;ExAC.Info.AC_Het=406;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg104Trp/c.310C>T;snpeff.Amino_Acid_length=547;snpeff.Gene_Name=ITPRIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPRIP" target="_blank">ITPRIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278071;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278071;SAVANT_GENE=ITPRIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITPRIP" target="_blank">ITPRIP</a>;SAVANT_INFO=-/21.8kb/3/4.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.310C>T_p.Arg104Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ITPRIP+c.310C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106075500">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2083:127	0|0:56,0:56:99:0,168,1977:127	0|1:42,30:72:99:770,0,1125:127
10	106152111	.	T	A	1716.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11192036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11192036" target="_blank">rs11192036</a>;ExAC.Info.AC=30321;ExAC.Info.AN=126686;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=22662;ExAC.Info.AC_Hom=3783;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486T>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486T>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486T>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486T>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486T>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486T>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486T>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486T>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486T>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1486T>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Aca;snpeff.Amino_Acid_Change=p.Ser496Thr/c.1486T>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369704;SAVANT_GENE=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;SAVANT_INFO=+/101.3kb/18/3.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1486T>A_p.Ser496Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC147+c.1486T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106152111">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2340:127	0|1:41,33:74:99:877,0,1137:127	0|0:57,0:57:99:0,171,1811:127
10	106166570	.	G	A	2944.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10786792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10786792" target="_blank">rs10786792</a>;ExAC.Info.AC=35887;ExAC.Info.AN=126700;ExAC.Info.AF=0.283;ExAC.Info.AC_Het=25185;ExAC.Info.AC_Hom=5315;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2256+19G>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257G>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257G>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257G>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257G>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257G>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257G>A;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369704;SAVANT_GENE=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;SAVANT_INFO=+/101.3kb/18/3.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2256+19G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC147+c.2256+19G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106166570">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,303,3346:127	0|1:57,53:110:99:1491,0,1765:127	0|0:78,0:78:99:0,234,2932:127
10	106207451	.	A	T	1834.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12766595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12766595" target="_blank">rs12766595</a>;ExAC.Info.AC=24720;ExAC.Info.AN=126700;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=19496;ExAC.Info.AC_Hom=2589;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2257-5A>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257A>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257A>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257A>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257A>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257A>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257A>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2257A>T;snpeff.Amino_Acid_length=872;snpeff.Gene_Name=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369704;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369704;SAVANT_GENE=CCDC147;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC147" target="_blank">CCDC147</a>;SAVANT_INFO=+/101.3kb/18/3.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2257-5A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC147+c.2257-5A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106207451">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,200,2194:127	0|1:42,35:77:99:935,0,1191:127	0|0:82,0:82:99:0,246,2648:127
10	106401380	.	G	A	1016.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs117144385;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=117144385" target="_blank">rs117144385</a>;ExAC.Info.AC=1103;ExAC.Info.AN=40860;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=474;ExAC.Info.AC_Hom=13;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Agt;snpeff.Amino_Acid_Change=p.Gly99Ser/c.295G>A;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369701;SAVANT_GENE=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;SAVANT_INFO=+/624.1kb/27/5.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.295G>A_p.Gly99Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS3+c.295G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106401380">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1146:98	0|0:38,0:38:99:0,114,1211:98	0|1:13,17:30:99:527,0,324:98
10	106602496	.	C	CT	9299.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs5787553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5787553" target="_blank">rs5787553</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.628-53_628-52insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628_629insT;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369701;SAVANT_GENE=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;SAVANT_INFO=+/624.1kb/27/5.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.628-48dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS3+c.628-48dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106602496">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,25:47:99:680,0,539:127	0|1:41,36:77:99:892,0,1028:127	1|1:0,76:76:99:2398,234,0:127
10	106907440	.	C	T	5974.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs791125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=791125" target="_blank">rs791125</a>;ExAC.Info.AC=67051;ExAC.Info.AN=126690;ExAC.Info.AF=0.529;ExAC.Info.AC_Het=30543;ExAC.Info.AC_Hom=18200;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn456Asn/c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[glycosylation_site:N-linked__GlcNAc..._];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.1368C>T;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369701;SAVANT_GENE=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;SAVANT_INFO=+/624.1kb/27/5.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1368C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS3+c.1368C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106907440">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2858:127	0|1:61,56:117:99:1553,0,1842:127	0|1:43,50:93:99:1454,0,1193:127
10	106907586	.	C	G	3343.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs791126;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=791126" target="_blank">rs791126</a>;ExAC.Info.AC=66470;ExAC.Info.AN=126436;ExAC.Info.AF=0.526;ExAC.Info.AC_Het=29464;ExAC.Info.AC_Hom=17195;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1482+32C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1483C>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369701;SAVANT_GENE=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;SAVANT_INFO=+/624.1kb/27/5.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1482+32C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS3+c.1482+32C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106907586">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1577:123	0|1:32,29:61:99:860,0,1049:123	0|1:19,26:45:99:833,0,617:123
10	106924208	.	A	G	2575.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12249990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12249990" target="_blank">rs12249990</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1809+71A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1810A>G;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" 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target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369701;SAVANT_GENE=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;SAVANT_INFO=+/624.1kb/27/5.8kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1809+71A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS3+c.1809+71A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106924208">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,15:28:99:514,0,344:127	0|0:54,0:54:99:0,162,1928:127	1|0:22,18:40:99:560,0,646:127
10	106974122	.	T	TG	1923.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=278;MQ=70.10;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2376-77_2376-76insG;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insG;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" 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target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insG;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insG;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insG;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insG;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insG;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insG;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insG;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insG;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369701;SAVANT_GENE=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;SAVANT_INFO=+/624.1kb/27/5.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2376-78_2376-77insG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS3+c.2376-78_2376-77insG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106974122">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,231,4032:127	0|1:84,37:121:99:985,0,4836:127	0|0:83,0:83:99:0,251,4207:127
10	106974123	.	A	ACACAC	7631.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=256;MQ=70.09;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2376-76_2376-75insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insCACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369701;SAVANT_GENE=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;SAVANT_INFO=+/624.1kb/27/5.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2376-77_2376-76insCACAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS3+c.2376-77_2376-76insCACAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106974123">View</a>	GT:AD:DP:GQ:PL	./0:47,2:69:99:972,795,3854	0/1:75,34:109:99:1248,0,5317	./0:43,3:78:99:1348,1218,4061
10	106974123	.	A	AACACACAC	7631.29	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=256;MQ=70.09;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2376-76_2376-75insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376_2377insACACACAC;snpeff.Amino_Acid_length=1222;snpeff.Gene_Name=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369701;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369701;SAVANT_GENE=SORCS3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS3" target="_blank">SORCS3</a>;SAVANT_INFO=+/624.1kb/27/5.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2376-67_2376-60dup8;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS3+c.2376-67_2376-60dup8+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:106974123">View</a>	GT:AD:DP:GQ:PL	0/1:47,20:69:99:972,0,2757	./0:75,0:109:99:1248,1235,6280	0/1:43,32:78:99:1348,0,2629
10	108337077	.	G	GA	10999.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=668;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3839910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3839910" target="_blank">rs3839910</a>;ExAC.Info.AC=10811;ExAC.Info.AN=126694;ExAC.Info.AF=0.085;ExAC.Info.AC_Het=9018;ExAC.Info.AC_Hom=876;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3533-34_3533-35insT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3533-35dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.3533-35dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108337077">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,99:186:99:2360,0,2064:127	0|0:253,0:253:99:0,760,7528:127	1|0:119,110:229:99:2507,0,2857:127
10	108339116	.	G	C	12103.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=623;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs41310306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41310306" target="_blank">rs41310306</a>;ExAC.Info.AC=2552;ExAC.Info.AN=126702;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=2490;ExAC.Info.AC_Hom=29;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3371+11C>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3371+11C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.3371+11C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108339116">View</a>	GT:AD:DP:GQ:PL:TP	1|0:105,87:192:99:2519,0,3062:127	0|0:237,0:237:99:0,712,8555:127	1|0:97,97:194:99:2643,0,2968:127
10	108367020	.	C	T	12008.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=453;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7082289;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7082289" target="_blank">rs7082289</a>;ExAC.Info.AC=18481;ExAC.Info.AN=126702;ExAC.Info.AF=0.146;ExAC.Info.AC_Het=14538;ExAC.Info.AC_Hom=1954;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3069C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala1023Ala/c.3069G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.3069G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.3069G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108367020">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,78:157:99:2110,0,2104:127	0|0:166,0:166:99:0,499,5677:127	1|0:49,81:130:99:2250,0,1321:127
10	108371571	.	A	AGTTT	37555.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs137930414;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=137930414" target="_blank">rs137930414</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3033+98_3033+97insAAAC;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3034_3035insGTTT;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3033+94_3033+97dupAAAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.3033+94_3033+97dupAAAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108371571">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:5358,370,0:127	1|1:0,126:126:99:6160,428,0:127	1|1:0,120:120:99:5591,383,0:127
10	108380213	.	G	A	11516.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=594;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4917481;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4917481" target="_blank">rs4917481</a>;ExAC.Info.AC=31343;ExAC.Info.AN=126696;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=21539;ExAC.Info.AC_Hom=4892;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2769G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr923Tyr/c.2769C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2769C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.2769C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108380213">View</a>	GT:AD:DP:GQ:PL:TP	1|0:107,97:204:99:2674,0,3006:127	0|0:231,0:231:99:0,694,7818:127	1|0:80,79:159:99:2065,0,2394:127
10	108388923	.	T	C	10899.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1885351;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1885351" target="_blank">rs1885351</a>;ExAC.Info.AC=23362;ExAC.Info.AN=126536;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=16983;ExAC.Info.AC_Hom=2169;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2662+37A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PKD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PKD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PKD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" 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target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2663T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2662+37A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.2662+37A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108388923">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,41:96:99:1170,0,1592:127	0/1:64,67:131:99:2026,0,1763:127	0/1:62,41:103:99:1362,0,1802:127
10	108389111	.	A	G	17073.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1018;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3802553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802553" target="_blank">rs3802553</a>;ExAC.Info.AC=17069;ExAC.Info.AN=126702;ExAC.Info.AF=0.135;ExAC.Info.AC_Het=13634;ExAC.Info.AC_Hom=1688;snpeff.Effect=sequence_feature[domain:PKD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PKD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PKD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe837Phe/c.2511T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2511T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.2511T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108389111">View</a>	GT:AD:DP:GQ:PL:TP	1|0:180,157:337:99:3950,0,4722:127	0|0:365,3:368:99:0,1020,12007:127	1|0:164,149:313:99:4055,0,4304:127
10	108427594	.	A	T	5528.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=265;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17121157;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17121157" target="_blank">rs17121157</a>;ExAC.Info.AC=16365;ExAC.Info.AN=126410;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=11553;ExAC.Info.AC_Hom=1206;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2190-34T>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" 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target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2190-34T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.2190-34T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108427594">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,41:73:99:1217,0,864:127	0|0:97,0:97:99:0,291,3206:127	1|0:54,41:95:99:1045,0,1521:127
10	108427624	.	A	G	4459.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=176;MQ=69.95;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12412558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12412558" target="_blank">rs12412558</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2190-64T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" 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target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" 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target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2190A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2190-64T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.2190-64T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108427624">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,28:51:99:967,0,890:127	0|0:58,0:58:99:0,178,2944:127	1|0:42,25:67:99:799,0,1711:127
10	108439103	.	A	C	23436.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs821929;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=821929" target="_blank">rs821929</a>;ExAC.Info.AC=110038;ExAC.Info.AN=126664;ExAC.Info.AF=0.869;ExAC.Info.AC_Het=13123;ExAC.Info.AC_Hom=47954;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1664-13T>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1664A>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1664-13T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.1664-13T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108439103">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2823,246,0:127	1|1:0,119:119:99:4084,358,0:127	1|1:0,83:83:99:2919,249,0:127
10	108448200	.	C	T	16286.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1252035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1252035" target="_blank">rs1252035</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1414-104G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1414C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1414-104G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.1414-104G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108448200">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2032,180,0:127	1|1:0,92:92:99:3246,277,0:127	1|1:0,76:76:99:2622,228,0:127
10	108466412	.	C	T	25587.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2756231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2756231" target="_blank">rs2756231</a>;ExAC.Info.AC=123941;ExAC.Info.AN=126702;ExAC.Info.AF=0.978;ExAC.Info.AC_Het=2472;ExAC.Info.AC_Hom=60691;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1144-20G>A;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144C>T;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1144-20G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.1144-20G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108466412">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:3954,349,0:127	1|1:0,112:112:99:3904,337,0:127	1|1:0,100:100:99:3701,300,0:127
10	108923704	.	A	G	28067.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=569;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2993097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2993097" target="_blank">rs2993097</a>;ExAC.Info.AC=34740;ExAC.Info.AN=126664;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=24243;ExAC.Info.AC_Hom=5025;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.558+23T>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" 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target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" 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target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559A>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.558+23T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.558+23T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108923704">View</a>	GT:AD:DP:GQ:PL:TP	0|1:107,97:204:99:2647,0,2669:127	1|1:0,235:235:99:8049,705,0:127	0|1:72,58:130:99:1682,0,2007:127
10	108924150	.	G	C	6150.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs61732174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61732174" target="_blank">rs61732174</a>;ExAC.Info.AC=1011;ExAC.Info.AN=51510;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=43;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a 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target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.135G>C;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcG;snpeff.Amino_Acid_Change=p.Ser45Ser/c.135C>G;snpeff.Amino_Acid_length=1198;snpeff.Gene_Name=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344440;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344440;SAVANT_GENE=SORCS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1" target="_blank">SORCS1</a>;SAVANT_INFO=-/587.3kb/27/3.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.135C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SORCS1+c.135C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:108924150">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,25:49:99:730,0,677:104	1|1:0,58:58:99:1952,173,0:104	0|0:35,0:35:99:0,105,1344:104
10	109205283	.	C	T	9645.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10509835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10509835" target="_blank">rs10509835</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10509835" target="_blank">rs10509835</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:109205283">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,77:156:99:2136,0,2257:127	0|0:202,0:202:99:0,607,6977:127	1|0:79,89:168:99:2519,0,2153:127
10	109205401	.	AC	A	13189.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs56772175;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56772175" target="_blank">rs56772175</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56772175" target="_blank">rs56772175</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:109205401">View</a>	GT:AD:DP:GQ:PL:TP	0/1:67,49:116:99:1872,0,3290:127	0/1:80,67:147:99:2552,0,4002:127	0/1:65,49:114:99:1863,0,3107:127
10	109205404	.	CAACAA	C	13155.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs72358568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72358568" target="_blank">rs72358568</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72358568" target="_blank">rs72358568</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:109205404">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,49:117:99:1865,0,3351:127	0/1:79,65:144:99:2546,0,4080:127	0/1:64,49:113:99:1856,0,3158:127
10	111440719	.	T	A	6516.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=407;MQ=69.62;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7915504;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7915504" target="_blank">rs7915504</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.520T>A;snpeff.Gene_Name=RP11-566F5.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-566F51" target="_blank">RP11-566F51</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000603162;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-566F51" target="_blank">RP11-566F51</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-566F51+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:111440719">View</a>	GT:AD:DP:GQ:PL:TP	0|0:139,0:139:99:0,418,4630:127	0|1:86,62:148:99:1708,0,2615:127	0|1:64,56:120:99:1570,0,1815:127
10	111631665	.	C	G	4470.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2274978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274978" target="_blank">rs2274978</a>;ExAC.Info.AC=25787;ExAC.Info.AN=126670;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=19097;ExAC.Info.AC_Hom=3246;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1453-46G>C;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=XPNPEP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XPNPEP1" target="_blank">XPNPEP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000502935;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000502935;SAVANT_GENE=XPNPEP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XPNPEP1" target="_blank">XPNPEP1</a>;SAVANT_INFO=-/58.8kb/21/2.5kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1453-46G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XPNPEP1+c.1453-46G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:111631665">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,27:49:99:806,0,671:127	0|0:64,0:64:99:0,192,2468:127	1|0:22,32:54:99:1032,0,707:127
10	111637635	.	A	C	7139.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2273740;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273740" target="_blank">rs2273740</a>;ExAC.Info.AC=27983;ExAC.Info.AN=126704;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=20052;ExAC.Info.AC_Hom=3964;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1242-10T>G;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=XPNPEP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XPNPEP1" target="_blank">XPNPEP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000502935;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000502935;SAVANT_GENE=XPNPEP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XPNPEP1" target="_blank">XPNPEP1</a>;SAVANT_INFO=-/58.8kb/21/2.5kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1242-10T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XPNPEP1+c.1242-10T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:111637635">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,31:64:99:881,0,888:127	0|0:127,0:127:99:0,382,4235:127	1|0:37,58:95:99:1748,0,1011:127
10	111646147	.	A	G	12534.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs623980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=623980" target="_blank">rs623980</a>;ExAC.Info.AC=59130;ExAC.Info.AN=126262;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=23835;ExAC.Info.AC_Hom=12750;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.653-48T>C;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=XPNPEP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XPNPEP1" target="_blank">XPNPEP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000502935;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000502935;SAVANT_GENE=XPNPEP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XPNPEP1" target="_blank">XPNPEP1</a>;SAVANT_INFO=-/58.8kb/21/2.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.653-48T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=XPNPEP1+c.653-48T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:111646147">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,44:93:99:1196,0,1347:127	1|1:0,102:102:99:3336,306,0:127	0|1:34,42:76:99:1215,0,938:127
10	111683280	.	CGGCG	C	4957.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=38;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs145751207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145751207" target="_blank">rs145751207</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=90;snpeff.Amino_Acid_Change=c.-93_-96delCGCC;snpeff.Amino_Acid_length=666;snpeff.Gene_Name=XPNPEP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XPNPEP1" target="_blank">XPNPEP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000502935;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000502935;SAVANT_GENE=XPNPEP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=XPNPEP1" target="_blank">XPNPEP1</a>;SAVANT_INFO=-/58.8kb/21/2.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-93_-90delCGCC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=XPNPEP1+c.-93_-90delCGCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:111683280">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,7:7:21:313,21,0:36	1|1:0,19:19:57:856,57,0:36	1|1:0,12:12:37:541,37,0:36
10	111878510	.	T	G	12165.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=516;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12268910;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12268910" target="_blank">rs12268910</a>;ExAC.Info.AC=35614;ExAC.Info.AN=126646;ExAC.Info.AF=0.281;ExAC.Info.AC_Het=20525;ExAC.Info.AC_Hom=7360;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.717+16T>G;snpeff.Amino_Acid_length=706;snpeff.Gene_Name=ADD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADD3" target="_blank">ADD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356080;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356080;SAVANT_GENE=ADD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADD3" target="_blank">ADD3</a>;SAVANT_INFO=+/126.3kb/15/3.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.717+16T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADD3+c.717+16T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:111878510">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,83:157:99:2370,0,1948:127	0|0:187,0:187:99:0,562,6264:127	1|0:91,81:172:99:2431,0,2533:127
10	112004562	.	CT	C	1132.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Neurofibrosarcoma_(3)|_{Prostate_cancer|_susceptibility_to}|_176807_(3);dbSNP139.ID=rs199913141;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199913141" target="_blank">rs199913141</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.408-23delT;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=MXI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXI1" target="_blank">MXI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332674;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:bHLH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408delT;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=MXI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXI1" target="_blank">MXI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332674;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:bHLH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408delT;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=MXI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXI1" target="_blank">MXI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332674;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:bHLH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408delT;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=MXI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXI1" target="_blank">MXI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332674;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:bHLH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.408delT;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=MXI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXI1" target="_blank">MXI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332674;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000332674;SAVANT_GENE=MXI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXI1" target="_blank">MXI1</a>;SAVANT_INFO=+/79.8kb/6/3.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.408-10delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MXI1+c.408-10delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112004562">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,18:81:99:182,0,1246:119	0/1:56,15:71:99:119,0,1173:119	0/1:46,19:65:99:247,0,903:119
10	112044842	.	TAAAAC	T	18844.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=535;MQ=69.98;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Neurofibrosarcoma_(3)|_{Prostate_cancer|_susceptibility_to}|_176807_(3);dbSNP139.ID=rs16448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16448" target="_blank">rs16448</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=98;snpeff.Amino_Acid_Change=c.*98_*102delAAAAC;snpeff.Amino_Acid_length=295;snpeff.Gene_Name=MXI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXI1" target="_blank">MXI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332674;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000332674;SAVANT_GENE=MXI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MXI1" target="_blank">MXI1</a>;SAVANT_INFO=+/79.8kb/6/3.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*118_*122del5;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MXI1+c.*118_*122del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112044842">View</a>	GT:AD:DP:GQ:PL:TP	0/1:115,81:196:99:2998,0,4545:127	0/1:93,82:175:99:3061,0,3653:127	0/1:84,80:164:99:3057,0,3201:127
10	112266771	.	C	T	2176.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=309;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1889567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889567" target="_blank">rs1889567</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=36712;ExAC.Info.AN=126704;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=25679;ExAC.Info.AC_Hom=5513;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.607C>T;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369583;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.607C>T;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369583;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.607C>T;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369583;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu203Leu/c.607C>T;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369583;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369583;SAVANT_GENE=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;SAVANT_INFO=+/13.7kb/4/2.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.607C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP5+c.607C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112266771">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,340,3981:127	0|0:113,0:113:99:0,340,4076:127	0|1:43,40:83:99:1107,0,1278:127
10	112266822	.	G	A	29403.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1889566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889566" target="_blank">rs1889566</a>;ExAC.Info.AC=125569;ExAC.Info.AN=126704;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=995;ExAC.Info.AC_Hom=62286;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658G>A;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369583;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658G>A;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369583;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcg/Acg;snpeff.Amino_Acid_Change=p.Ala220Thr/c.658G>A;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369583;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369583;SAVANT_GENE=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;SAVANT_INFO=+/13.7kb/4/2.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.658G>A_p.Ala220Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP5+c.658G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112266822">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:4211,286,0:127	1|1:0,110:110:99:4931,331,0:127	1|1:0,82:82:99:3679,247,0:127
10	112266823	.	C	T	29403.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1889565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1889565" target="_blank">rs1889565</a>;ExAC.Info.AC=125569;ExAC.Info.AN=126704;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=995;ExAC.Info.AC_Hom=62286;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659C>T;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369583;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.659C>T;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369583;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala220Val/c.659C>T;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369583;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369583;SAVANT_GENE=DUSP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP5" target="_blank">DUSP5</a>;SAVANT_INFO=+/13.7kb/4/2.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.659C>T_p.Ala220Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP5+c.659C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112266823">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:4211,286,0:127	1|1:0,108:108:99:4931,331,0:127	1|1:0,82:82:99:3679,247,0:127
10	112327678	.	C	CA	8945.89	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cornelia_de_Lange_syndrome_3|_610759_(3);dbSNP139.ID=rs55750861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55750861" target="_blank">rs55750861</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.15+90_15+91insA;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000361804;SAVANT_GENE=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;SAVANT_INFO=+/36.9kb/29/4.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.15+89_15+90insA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMC3+c.15+89_15+90insA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112327678">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:962,72,0:92	1|1:0,31:31:93:1248,93,0:92	1|1:0,34:34:99:1372,102,0:92
10	112356331	.	G	A	52022.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=768;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cornelia_de_Lange_syndrome_3|_610759_(3);dbSNP139.ID=rs7075340;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7075340" target="_blank">rs7075340</a>;ExAC.Info.AC=124022;ExAC.Info.AN=126652;ExAC.Info.AF=0.979;ExAC.Info.AC_Het=2424;ExAC.Info.AC_Hom=60367;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2116+23G>A;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117G>A;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361804;SAVANT_GENE=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;SAVANT_INFO=+/36.9kb/29/4.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2116+23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMC3+c.2116+23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112356331">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,238:238:99:7882,715,0:127	1|1:0,271:271:99:9420,814,0:127	1|1:0,259:259:99:8768,778,0:127
10	112360315	.	GT	G	1356.34	VQSRTrancheINDEL99.00to99.90	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Cornelia_de_Lange_syndrome_3|_610759_(3);dbSNP139.ID=rs35608195;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35608195" target="_blank">rs35608195</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2535+12delT;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2536delT;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2536delT;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2536delT;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2536delT;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2536delT;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2536delT;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361804;SAVANT_GENE=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;SAVANT_INFO=+/36.9kb/29/4.1kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2535+28delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMC3+c.2535+28delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112360315">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,10:69:12:12,0,1031:12	0/1:55,23:78:99:261,0,902:12	0/1:38,19:57:99:201,0,624:12
10	112361870	.	A	G	30758.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=396;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cornelia_de_Lange_syndrome_3|_610759_(3);dbSNP139.ID=rs2419565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2419565" target="_blank">rs2419565</a>;ExAC.Info.AC=126232;ExAC.Info.AN=126696;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=444;ExAC.Info.AC_Hom=62813;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000147595;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser1013Ser/c.3039A>G;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphoserine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.3039A>G;snpeff.Amino_Acid_length=1217;snpeff.Gene_Name=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361804;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361804;SAVANT_GENE=SMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMC3" target="_blank">SMC3</a>;SAVANT_INFO=+/36.9kb/29/4.1kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.3039A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMC3+c.3039A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112361870">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000147595" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:3870,345,0:127	1|1:0,147:147:99:5327,442,0:127	1|1:0,134:134:99:4683,403,0:127
10	112541676	.	T	C	6211.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1DD|_613172_(3);dbSNP139.ID=rs61862866;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61862866" target="_blank">rs61862866</a>;ExAC.Info.AC=6165;ExAC.Info.AN=26972;ExAC.Info.AF=0.229;ExAC.Info.AC_Het=4318;ExAC.Info.AC_Hom=847;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1275+34T>C;snpeff.Amino_Acid_length=1227;snpeff.Gene_Name=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369519;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369519;SAVANT_GENE=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;SAVANT_INFO=+/195.1kb/14/7.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.1275+34T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM20+c.1275+34T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112541676">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,29:66:99:1103,0,2183:127	1|0:46,28:74:99:1059,0,2658:127	0|0:76,0:76:99:0,232,4936:127
10	112541678	.	G	A	6211.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1DD|_613172_(3);dbSNP139.ID=rs61862867;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61862867" target="_blank">rs61862867</a>;ExAC.Info.AC=6161;ExAC.Info.AN=27036;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=4314;ExAC.Info.AC_Hom=848;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1275+36G>A;snpeff.Amino_Acid_length=1227;snpeff.Gene_Name=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369519;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369519;SAVANT_GENE=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;SAVANT_INFO=+/195.1kb/14/7.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.1275+36G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM20+c.1275+36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112541678">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,29:64:99:1103,0,2183:127	1|0:44,29:73:99:1059,0,2658:127	0|0:71,0:71:99:0,232,4936:127
10	112543217	.	G	A	18935.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1DD|_613172_(3);dbSNP139.ID=rs6585012;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6585012" target="_blank">rs6585012</a>;ExAC.Info.AC=22076;ExAC.Info.AN=27970;ExAC.Info.AF=0.789;ExAC.Info.AC_Het=3800;ExAC.Info.AC_Hom=8320;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1337+32G>A;snpeff.Amino_Acid_length=1227;snpeff.Gene_Name=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369519;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369519;SAVANT_GENE=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;SAVANT_INFO=+/195.1kb/14/7.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1337+32G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM20+c.1337+32G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112543217">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:4605,414,0:127	1|0:86,71:157:99:1905,0,2569:127	1|0:66,66:132:99:1921,0,1834:127
10	112544063	.	A	C	18511.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1DD|_613172_(3);dbSNP139.ID=rs7898438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7898438" target="_blank">rs7898438</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1338-36A>C;snpeff.Amino_Acid_length=1227;snpeff.Gene_Name=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369519;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369519;SAVANT_GENE=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;SAVANT_INFO=+/195.1kb/14/7.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1338-36A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM20+c.1338-36A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112544063">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,113:114:99:3970,307,0:127	1|0:75,63:138:99:1924,0,2066:127	1|0:65,53:118:99:1497,0,1849:127
10	112570130	.	G	C	7614.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1DD|_613172_(3);dbSNP139.ID=rs12572941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12572941" target="_blank">rs12572941</a>;ExAC.Info.AC=1193;ExAC.Info.AN=28182;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=1085;ExAC.Info.AC_Hom=39;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1801-11G>C;snpeff.Amino_Acid_length=1227;snpeff.Gene_Name=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369519;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369519;SAVANT_GENE=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;SAVANT_INFO=+/195.1kb/14/7.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1801-11G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM20+c.1801-11G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112570130">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,50:97:99:1510,0,1451:127	0|0:112,0:112:99:0,336,4062:127	1|0:65,43:108:99:1287,0,1862:127
10	112570243	.	T	C	5775.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1DD|_613172_(3);dbSNP139.ID=rs11195338;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11195338" target="_blank">rs11195338</a>;ExAC.Info.AC=9114;ExAC.Info.AN=27878;ExAC.Info.AF=0.327;ExAC.Info.AC_Het=5350;ExAC.Info.AC_Hom=1611;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1880+23T>C;snpeff.Amino_Acid_length=1227;snpeff.Gene_Name=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369519;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369519;SAVANT_GENE=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;SAVANT_INFO=+/195.1kb/14/7.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1880+23T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM20+c.1880+23T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112570243">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,273,2939:127	0|1:61,63:124:99:1819,0,1705:127	0|1:57,37:94:99:1088,0,1583:127
10	112572458	.	G	C	44096.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=549;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1DD|_613172_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1417635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1417635" target="_blank">rs1417635</a>;ExAC.Info.AC=27384;ExAC.Info.AN=27478;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=74;ExAC.Info.AC_Hom=12236;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGg/tCg;snpeff.Amino_Acid_Change=p.Trp768Ser/c.2303G>C;snpeff.Amino_Acid_length=1227;snpeff.Gene_Name=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369519;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369519;SAVANT_GENE=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;SAVANT_INFO=+/195.1kb/14/7.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2303G>C_p.Trp768Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM20+c.2303G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112572458">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,165:165:99:5583,495,0:127	1|1:0,218:218:99:7337,655,0:127	1|1:0,166:166:99:5842,499,0:127
10	112590810	.	G	C	26990.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1DD|_613172_(3);dbSNP139.ID=rs7070640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7070640" target="_blank">rs7070640</a>;ExAC.Info.AC=24528;ExAC.Info.AN=24850;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=210;ExAC.Info.AC_Hom=10987;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127749|RCV000036987;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3452-9G>C;snpeff.Amino_Acid_length=1227;snpeff.Gene_Name=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369519;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369519;SAVANT_GENE=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;SAVANT_INFO=+/195.1kb/14/7.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.3452-9G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM20+c.3452-9G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112590810">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127749%20OR%20RCV000036987" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2971,252,0:127	1|1:0,134:134:99:4663,402,0:127	1|1:0,75:75:99:2819,226,0:127
10	112595719	.	G	C	31469.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1DD|_613172_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs942077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=942077" target="_blank">rs942077</a>;ExAC.Info.AC=18807;ExAC.Info.AN=25072;ExAC.Info.AF=0.750;ExAC.Info.AC_Het=3612;ExAC.Info.AC_Hom=6575;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Caa;snpeff.Amino_Acid_Change=p.Glu1223Gln/c.3667G>C;snpeff.Amino_Acid_length=1227;snpeff.Gene_Name=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369519;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369519;SAVANT_GENE=RBM20;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBM20" target="_blank">RBM20</a>;SAVANT_INFO=+/195.1kb/14/7.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.3667G>C_p.Glu1223Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBM20+c.3667G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112595719">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,114:114:99:3932,342,0:127	1|1:0,143:143:99:5116,430,0:127	1|1:0,130:130:99:4716,391,0:127
10	112641053	.	A	G	26579.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7081726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7081726" target="_blank">rs7081726</a>;ExAC.Info.AC=119799;ExAC.Info.AN=126702;ExAC.Info.AF=0.946;ExAC.Info.AC_Het=6267;ExAC.Info.AC_Hom=56694;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Gta;snpeff.Amino_Acid_Change=p.Ile36Val/c.106A>G;snpeff.Amino_Acid_length=469;snpeff.Gene_Name=PDCD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD4" target="_blank">PDCD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280154;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280154;SAVANT_GENE=PDCD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDCD4" target="_blank">PDCD4</a>;SAVANT_INFO=+/28.2kb/12/3.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.106A>G_p.Ile36Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDCD4+c.106A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112641053">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3460,292,0:127	1|1:0,106:106:99:4011,319,0:127	1|1:0,109:109:99:4009,328,0:127
10	112697017	.	CT	C	850.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Noonan-like_syndrome_with_loose_anagen_hair|_607721_(3)|Noonan-like_syndrome_with_loose_anagen_hair|_607721_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-235+17603delT;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=SHOC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHOC2" target="_blank">SHOC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369452;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369452;SAVANT_GENE=SHOC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHOC2" target="_blank">SHOC2</a>;SAVANT_INFO=+/94.1kb/9/3.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-27087delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SHOC2+c.-27087delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112697017">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,6:19:70:70,0,287:69	0/1:20,12:32:99:207,0,401:69	0/1:10,5:15:89:89,0,187:69
10	112764594	.	T	C	30621.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Noonan-like_syndrome_with_loose_anagen_hair|_607721_(3)|Noonan-like_syndrome_with_loose_anagen_hair|_607721_(3);dbSNP139.ID=rs1980869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1980869" target="_blank">rs1980869</a>;ExAC.Info.AC=103695;ExAC.Info.AN=126160;ExAC.Info.AF=0.822;ExAC.Info.AC_Het=14721;ExAC.Info.AC_Hom=36645;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000034336;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1161+42T>C;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=SHOC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHOC2" target="_blank">SHOC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369452;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1162T>C;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=SHOC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHOC2" target="_blank">SHOC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369452;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1162T>C;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=SHOC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHOC2" target="_blank">SHOC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369452;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369452;SAVANT_GENE=SHOC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHOC2" target="_blank">SHOC2</a>;SAVANT_INFO=+/94.1kb/9/3.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1161+42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SHOC2+c.1161+42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112764594">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000034336" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3794,310,0:127	1|1:0,142:142:99:5445,427,0:127	1|1:0,139:139:99:5166,418,0:127
10	112836503	.	G	C	7467.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1800544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800544" target="_blank">rs1800544</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Increased_fasting_glucose_levels|_association_with;hgmd_2014.2.OMIM_ID=104210;hgmd_2014.2.PubMed=11886485;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11886485" target="_blank">11886485</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11886485" target="_blank">11886485</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:112836503">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1177,105,0:80	1|1:0,30:30:90:1058,90,0:80	1|1:0,27:27:81:936,81,0:80
10	113913222	.	T	C	9288.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=416;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2297991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2297991" target="_blank">rs2297991</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=86;snpeff.Amino_Acid_Change=c.*86A>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348367;SAVANT_GENE=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;SAVANT_INFO=-/33.9kb/22/6.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*86A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPAM+c.*86A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:113913222">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,43:117:99:1153,0,2091:127	0|0:187,0:187:99:0,561,6366:127	1|0:59,53:112:99:1651,0,1687:127
10	113917085	.	T	A	11184.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=520;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2254537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2254537" target="_blank">rs2254537</a>;ExAC.Info.AC=91788;ExAC.Info.AN=126704;ExAC.Info.AF=0.724;ExAC.Info.AC_Het=24643;ExAC.Info.AC_Hom=33562;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2043T>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2043T>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2043T>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2043T>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2043T>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2043T>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccT;snpeff.Amino_Acid_Change=p.Pro681Pro/c.2043A>T;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348367;SAVANT_GENE=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;SAVANT_INFO=-/33.9kb/22/6.4kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2043A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPAM+c.2043A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:113917085">View</a>	GT:AD:DP:GQ:PL:TP	1|0:96,74:170:99:2079,0,2655:127	0|0:207,0:207:99:0,622,7015:127	1|0:70,73:143:99:2152,0,1946:127
10	113917982	.	C	G	4277.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6585140;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6585140" target="_blank">rs6585140</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1980+92G>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1981C>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1981C>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1981C>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1981C>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1981C>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Mitochondrial_intermembrane];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1981C>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348367;SAVANT_GENE=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;SAVANT_INFO=-/33.9kb/22/6.4kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1980+92G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPAM+c.1980+92G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:113917982">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,22:46:99:734,0,771:127	0|0:64,0:64:99:0,192,2442:127	1|0:18,28:46:99:912,0,557:127
10	113920465	.	G	A	17240.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=830;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2277207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2277207" target="_blank">rs2277207</a>;ExAC.Info.AC=71602;ExAC.Info.AN=126704;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=30722;ExAC.Info.AC_Hom=20418;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1656G>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1656G>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn552Asn/c.1656C>T;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348367;SAVANT_GENE=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;SAVANT_INFO=-/33.9kb/22/6.4kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1656C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPAM+c.1656C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:113920465">View</a>	GT:AD:DP:GQ:PL:TP	1|0:128,118:246:99:3479,0,3741:127	0|0:290,0:290:99:0,872,10250:127	1|0:155,139:294:99:4129,0,4505:127
10	113920652	.	T	C	13831.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=714;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3824626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824626" target="_blank">rs3824626</a>;ExAC.Info.AC=71570;ExAC.Info.AN=126676;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=30522;ExAC.Info.AC_Hom=20200;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1495-26A>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1495T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1495T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348367;SAVANT_GENE=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;SAVANT_INFO=-/33.9kb/22/6.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1495-26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPAM+c.1495-26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:113920652">View</a>	GT:AD:DP:GQ:PL:TP	1|0:117,98:215:99:2872,0,3576:127	0|0:277,0:277:99:0,833,10072:127	1|0:106,116:222:99:3374,0,3027:127
10	113921354	.	G	A	2147.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2250802;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2250802" target="_blank">rs2250802</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1494+71C>T;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1495G>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1495G>A;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348367;SAVANT_GENE=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;SAVANT_INFO=-/33.9kb/22/6.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1494+71C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPAM+c.1494+71C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:113921354">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,13:18:99:418,0,157:93	0|0:31,0:31:93:0,93,1234:93	1|0:13,15:28:99:415,0,406:93
10	113923595	.	C	G	17354.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=945;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10736219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10736219" target="_blank">rs10736219</a>;ExAC.Info.AC=71355;ExAC.Info.AN=126670;ExAC.Info.AF=0.563;ExAC.Info.AC_Het=30498;ExAC.Info.AC_Hom=19992;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1308-21G>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348367;SAVANT_GENE=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;SAVANT_INFO=-/33.9kb/22/6.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1308-21G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPAM+c.1308-21G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:113923595">View</a>	GT:AD:DP:GQ:PL:TP	1|0:164,130:294:99:3851,0,4707:127	0|0:359,0:359:99:0,1078,13140:127	1|0:154,138:292:99:3969,0,4695:127
10	113928713	.	A	G	7482.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72836644;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72836644" target="_blank">rs72836644</a>;ExAC.Info.AC=68;ExAC.Info.AN=126704;ExAC.Info.AF=5.367e-04;ExAC.Info.AC_Het=68;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.795-3T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.795T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348367;SAVANT_GENE=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;SAVANT_INFO=-/33.9kb/22/6.4kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.795-3T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPAM+c.795-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:113928713">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,46:96:99:1467,0,1415:127	0|0:124,0:124:99:0,372,4163:127	1|0:41,53:94:99:1604,0,1197:127
10	113935379	.	T	C	4770.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10787428;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10787428" target="_blank">rs10787428</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Lung_cancer|_susceptibility_to|_association_with;hgmd_2014.2.OMIM_ID=602395;hgmd_2014.2.PubMed=16741161;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16741161" target="_blank">16741161</a>;ExAC.Info.AC=71692;ExAC.Info.AN=126704;ExAC.Info.AF=0.566;ExAC.Info.AC_Het=30743;ExAC.Info.AC_Hom=20472;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu131Gly/c.392A>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348367;SAVANT_GENE=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;SAVANT_INFO=-/33.9kb/22/6.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.392A>G_p.Glu131Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPAM+c.392A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:113935379">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,39:78:99:1046,0,961:127	0|0:83,0:83:99:0,249,2724:127	1|0:30,33:63:99:1009,0,902:127
10	113940329	.	T	C	16946.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=888;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2792751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2792751" target="_blank">rs2792751</a>;ExAC.Info.AC=93914;ExAC.Info.AN=126702;ExAC.Info.AF=0.741;ExAC.Info.AC_Het=23277;ExAC.Info.AC_Hom=35276;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile43Val/c.127A>G;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423155;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000348367;SAVANT_GENE=GPAM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAM" target="_blank">GPAM</a>;SAVANT_INFO=-/33.9kb/22/6.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.127A>G_p.Ile43Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPAM+c.127A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:113940329">View</a>	GT:AD:DP:GQ:PL:TP	1|0:128,135:263:99:3688,0,3726:127	0|0:340,0:340:99:0,1021,11657:127	1|0:127,158:285:99:4356,0,3660:127
10	114043596	.	G	A	7886.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41314509;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41314509" target="_blank">rs41314509</a>;ExAC.Info.AC=24853;ExAC.Info.AN=126606;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=19027;ExAC.Info.AC_Hom=2574;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.76+28G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.77G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369422;SAVANT_GENE=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;SAVANT_INFO=+/21.3kb/10/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.76+28G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TECTB+c.76+28G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114043596">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,53:101:99:1345,0,1383:127	1|0:65,67:132:99:1863,0,1720:127	0|0:114,0:114:99:0,343,3945:127
10	114053546	.	C	G	5203.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs726009;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=726009" target="_blank">rs726009</a>;ExAC.Info.AC=66134;ExAC.Info.AN=126704;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=30024;ExAC.Info.AC_Hom=18055;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534C>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534C>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534C>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534C>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534C>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534C>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534C>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534C>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcG;snpeff.Amino_Acid_Change=p.Ser178Ser/c.534C>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369422;SAVANT_GENE=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;SAVANT_INFO=+/21.3kb/10/2.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.534C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TECTB+c.534C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114053546">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,35:80:99:1022,0,1236:127	1|0:54,49:103:99:1386,0,1566:127	0|0:69,0:69:99:0,207,2299:127
10	114059330	.	TCTCTGTTTTC	T	16446.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11279253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11279253" target="_blank">rs11279253</a>;ExAC.Info.AC=73907;ExAC.Info.AN=126688;ExAC.Info.AF=0.583;ExAC.Info.AC_Het=30865;ExAC.Info.AC_Hom=21061;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.907+9_907+18delCTCTGTTTTC;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369422;SAVANT_GENE=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;SAVANT_INFO=+/21.3kb/10/2.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.907+20_907+29del10;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TECTB+c.907+20_907+29del10+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114059330">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,49:114:99:1862,0,2629:127	1|1:0,113:113:99:5090,344,0:127	0|0:116,0:116:99:0,347,5212:127
10	114061979	.	G	A	20377.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10749114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10749114" target="_blank">rs10749114</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.940+88G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.941G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369422;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369422;SAVANT_GENE=TECTB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TECTB" target="_blank">TECTB</a>;SAVANT_INFO=+/21.3kb/10/2.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.940+88G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TECTB+c.940+88G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114061979">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2805,237,0:127	1|1:0,82:82:99:2892,246,0:127	1|1:0,93:93:99:3205,279,0:127
10	114154662	.	GT	G	4825.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs144016944;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144016944" target="_blank">rs144016944</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.140-13delT;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000356116;SAVANT_GENE=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;SAVANT_INFO=+/52.2kb/21/3.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.140-4delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACSL5+c.140-4delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114154662">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,37:60:99:835,0,460:127	1|0:53,52:105:99:1169,0,1192:127	0|0:67,0:67:99:0,200,1875:127
10	114158908	.	A	G	16749.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs4918748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4918748" target="_blank">rs4918748</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.433+141A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356116;SAVANT_GENE=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;SAVANT_INFO=+/52.2kb/21/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.433+141A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACSL5+c.433+141A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114158908">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,56:113:99:1787,0,1573:127	1|1:0,119:119:99:4572,358,0:127	0|1:47,49:96:99:1596,0,1415:127
10	114164146	.	T	G	18313.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=428;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs11195949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11195949" target="_blank">rs11195949</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.434-123T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.434T>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356116;SAVANT_GENE=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;SAVANT_INFO=+/52.2kb/21/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.434-123T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACSL5+c.434-123T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114164146">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,77:155:99:2277,0,1978:127	1|1:0,131:131:99:4746,394,0:127	0|1:67,75:142:99:2234,0,1912:127
10	114181683	.	A	G	30247.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2255740;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2255740" target="_blank">rs2255740</a>;ExAC.Info.AC=116948;ExAC.Info.AN=126702;ExAC.Info.AF=0.923;ExAC.Info.AC_Het=8706;ExAC.Info.AC_Hom=54097;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1556-22A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556A>G;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356116;SAVANT_GENE=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;SAVANT_INFO=+/52.2kb/21/3.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1556-22A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACSL5+c.1556-22A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114181683">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4280,373,0:127	1|1:0,141:141:99:5086,424,0:127	1|1:1,101:102:99:3330,269,0:127
10	114186624	.	G	A	31424.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2256368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2256368" target="_blank">rs2256368</a>;ExAC.Info.AC=117706;ExAC.Info.AN=126700;ExAC.Info.AF=0.929;ExAC.Info.AC_Het=8026;ExAC.Info.AC_Hom=54811;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2079+7G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2080G>A;snpeff.Amino_Acid_length=739;snpeff.Gene_Name=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356116;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356116;SAVANT_GENE=ACSL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL5" target="_blank">ACSL5</a>;SAVANT_INFO=+/52.2kb/21/3.4kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2079+7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACSL5+c.2079+7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114186624">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,134:134:99:4240,402,0:127	1|1:0,169:169:99:5498,507,0:127	1|1:0,142:142:99:4641,427,0:127
10	114192285	.	G	A	9815.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2306158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306158" target="_blank">rs2306158</a>;ExAC.Info.AC=47710;ExAC.Info.AN=126688;ExAC.Info.AF=0.377;ExAC.Info.AC_Het=27537;ExAC.Info.AC_Hom=10068;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.946-6C>T;snpeff.Amino_Acid_length=413;snpeff.Gene_Name=ZDHHC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC6" target="_blank">ZDHHC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369405;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.946C>T;snpeff.Amino_Acid_length=413;snpeff.Gene_Name=ZDHHC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC6" target="_blank">ZDHHC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369405;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369405;SAVANT_GENE=ZDHHC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC6" target="_blank">ZDHHC6</a>;SAVANT_INFO=-/16.6kb/11/2.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.946-6C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZDHHC6+c.946-6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114192285">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,33:68:99:1018,0,1086:127	0/1:53,50:103:99:1538,0,1784:127	0/1:43,56:99:99:1790,0,1357:127
10	114193060	.	G	GA	2111.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11421522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11421522" target="_blank">rs11421522</a>;ExAC.Info.AC=15070;ExAC.Info.AN=126548;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=12429;ExAC.Info.AC_Hom=980;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.904-21_904-22insT;snpeff.Amino_Acid_length=413;snpeff.Gene_Name=ZDHHC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC6" target="_blank">ZDHHC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369405;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369405;SAVANT_GENE=ZDHHC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC6" target="_blank">ZDHHC6</a>;SAVANT_INFO=-/16.6kb/11/2.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.904-22dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZDHHC6+c.904-22dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114193060">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1665:127	0|1:25,42:67:99:1079,0,560:127	0|0:65,0:65:99:0,195,1961:127
10	114197982	.	A	T	1807.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=50;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3736059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736059" target="_blank">rs3736059</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.735+112T>A;snpeff.Amino_Acid_length=413;snpeff.Gene_Name=ZDHHC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC6" target="_blank">ZDHHC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369405;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369405;SAVANT_GENE=ZDHHC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC6" target="_blank">ZDHHC6</a>;SAVANT_INFO=-/16.6kb/11/2.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.735+112T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZDHHC6+c.735+112T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114197982">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,11:19:99:274,0,212:42	1|1:0,14:14:42:483,42,0:42	0|1:9,8:17:99:203,0,236:42
10	114200355	.	G	A	18416.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2306159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306159" target="_blank">rs2306159</a>;ExAC.Info.AC=71799;ExAC.Info.AN=126704;ExAC.Info.AF=0.567;ExAC.Info.AC_Het=29845;ExAC.Info.AC_Hom=20976;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.618G>A;snpeff.Amino_Acid_length=413;snpeff.Gene_Name=ZDHHC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC6" target="_blank">ZDHHC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369405;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr206Thr/c.618C>T;snpeff.Amino_Acid_length=413;snpeff.Gene_Name=ZDHHC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC6" target="_blank">ZDHHC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369405;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369405;SAVANT_GENE=ZDHHC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC6" target="_blank">ZDHHC6</a>;SAVANT_INFO=-/16.6kb/11/2.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.618C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZDHHC6+c.618C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114200355">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,48:103:99:1328,0,1690:127	1|1:1,151:152:99:5194,419,0:127	0|1:74,57:131:99:1655,0,2191:127
10	114758349	.	C	T	28842.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=662;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs7903146;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7903146" target="_blank">rs7903146</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Diabetes|_type_2|_association_with;hgmd_2014.2.OMIM_ID=602228;hgmd_2014.2.PubMed=17003360;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17003360" target="_blank">17003360</a>;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000007838;Clinvar.PhenotypeIDs=MedGen:C0011860|OMIM:125853|SNOMED_CT:44054006;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.450+33966C>T;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543371;SAVANT_GENE=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;SAVANT_INFO=+/217.4kb/14/4.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.450+33966C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCF7L2+c.450+33966C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114758349">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007838" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,205:205:99:6745,615,0:127	1|0:123,115:238:99:3194,0,3603:127	1|0:113,106:219:99:2908,0,3277:127
10	114808902	.	G	T	6927.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12255372;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12255372" target="_blank">rs12255372</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Diabetes|_type_2|_association_with;hgmd_2014.2.OMIM_ID=602228;hgmd_2014.2.PubMed=17003360;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17003360" target="_blank">17003360</a>;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000007839;Clinvar.PhenotypeIDs=MedGen:C0011860|OMIM:125853|SNOMED_CT:44054006;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.552+9017G>T;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>T;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>T;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>T;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>T;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>T;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543371;SAVANT_GENE=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;SAVANT_INFO=+/217.4kb/14/4.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.552+9017G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCF7L2+c.552+9017G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114808902">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007839" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	1|0:66,57:123:99:1451,0,1980:127	0|0:184,0:184:99:0,553,6926:127	1|0:65,51:116:99:1387,0,1968:127
10	114909739	.	T	A	39218.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs290486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=290486" target="_blank">rs290486</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.876-1018T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_MAD2L2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_MAD2L2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_MAD2L2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_MAD2L2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_MAD2L2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_MAD2L2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.876T>A;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543371;SAVANT_GENE=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;SAVANT_INFO=+/217.4kb/14/4.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.876-1018T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCF7L2+c.876-1018T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114909739">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,164:164:99:5360,493,0:127	1|1:0,207:207:99:7055,622,0:127	1|1:0,154:154:99:5143,463,0:127
10	114925491	.	C	T	7293.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=287;MQ=69.96;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs76249005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76249005" target="_blank">rs76249005</a>;ExAC.Info.AC=1;ExAC.Info.AN=126704;ExAC.Info.AF=7.892e-06;ExAC.Info.AC_Het=15;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro540Pro/c.1620C>T;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545257;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000543371;SAVANT_GENE=TCF7L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCF7L2" target="_blank">TCF7L2</a>;SAVANT_INFO=+/217.4kb/14/4.0kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1569C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCF7L2+c.1569C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:114925491">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,38:71:99:1021,0,980:127	0|0:108,0:108:99:0,325,3608:127	1|0:49,59:108:99:1612,0,1256:127
10	115327193	.	A	G	5285.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2286745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2286745" target="_blank">rs2286745</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.70-55A>G;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000351270;SAVANT_GENE=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;SAVANT_INFO=+/36.6kb/13/3.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.70-55A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HABP2+c.70-55A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115327193">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,22:48:99:620,0,718:127	0/1:26,24:50:99:663,0,872:127	0/1:34,19:53:99:546,0,952:127
10	115332413	.	C	T	7658.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10885477;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10885477" target="_blank">rs10885477</a>;ExAC.Info.AC=1184;ExAC.Info.AN=15560;ExAC.Info.AF=0.076;ExAC.Info.AC_Het=971;ExAC.Info.AC_Hom=74;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.107-1635C>T;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000351270;SAVANT_GENE=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;SAVANT_INFO=+/36.6kb/13/3.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.107-1635C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HABP2+c.107-1635C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115332413">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,50:104:99:1261,0,1423:127	1|0:45,69:114:99:2049,0,1204:127	0|0:116,0:116:99:0,348,3931:127
10	115335843	.	A	G	12381.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs911709;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=911709" target="_blank">rs911709</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.331+80A>G;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332A>G;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332A>G;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000351270;SAVANT_GENE=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;SAVANT_INFO=+/36.6kb/13/3.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.331+80A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HABP2+c.331+80A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115335843">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1606,132,0:127	1|1:0,58:58:99:2139,174,0:127	1|1:0,46:46:99:1673,138,0:127
10	115337685	.	A	T	9509.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=464;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11575683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11575683" target="_blank">rs11575683</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.449-100A>T;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449A>T;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449A>T;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000351270;SAVANT_GENE=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;SAVANT_INFO=+/36.6kb/13/3.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.449-100A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HABP2+c.449-100A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115337685">View</a>	GT:AD:DP:GQ:PL:TP	0|1:86,68:154:99:1591,0,2236:127	1|0:84,76:160:99:2118,0,2350:127	0|0:150,0:150:99:0,450,4719:127
10	115340492	.	G	A	3802.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2286742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2286742" target="_blank">rs2286742</a>;ExAC.Info.AC=71576;ExAC.Info.AN=126684;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=29810;ExAC.Info.AC_Hom=20484;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.838+41G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000351270;SAVANT_GENE=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;SAVANT_INFO=+/36.6kb/13/3.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.838+41G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HABP2+c.838+41G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115340492">View</a>	GT:AD:DP:GQ:PL:TP	0|0:145,0:145:99:0,436,5520:127	0|0:169,0:169:99:0,508,6472:127	0|1:63,64:127:99:1920,0,2110:127
10	115341753	.	G	A	6412.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2245056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2245056" target="_blank">rs2245056</a>;ExAC.Info.AC=50608;ExAC.Info.AN=126704;ExAC.Info.AF=0.399;ExAC.Info.AC_Het=30092;ExAC.Info.AC_Hom=10255;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.957G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.957G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.957G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.957G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.957G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_heavy_and_light_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.957G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_heavy_and_light_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.957G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_heavy_and_light_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.957G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys319Lys/c.957G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000351270;SAVANT_GENE=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;SAVANT_INFO=+/36.6kb/13/3.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.957G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HABP2+c.957G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115341753">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,0:103:99:0,310,3752:127	0|1:75,59:134:99:1698,0,2235:127	0|1:39,51:90:99:1529,0,1160:127
10	115341846	.	G	A	3408.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2245058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2245058" target="_blank">rs2245058</a>;ExAC.Info.AC=50400;ExAC.Info.AN=126668;ExAC.Info.AF=0.398;ExAC.Info.AC_Het=29839;ExAC.Info.AC_Hom=9953;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_heavy_and_light_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_heavy_and_light_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Interchain__between_heavy_and_light_chains_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1050G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala350Ala/c.1050G>A;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000351270;SAVANT_GENE=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2" target="_blank">HABP2</a>;SAVANT_INFO=+/36.6kb/13/3.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1050G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HABP2+c.1050G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115341846">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,2019:127	0|1:46,34:80:99:986,0,1450:127	0|1:28,24:52:99:738,0,896:127
10	115348726	.	GA	G	3496.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3832698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3832698" target="_blank">rs3832698</a>;ExAC.Info.AC=43976;ExAC.Info.AN=126704;ExAC.Info.AF=0.347;ExAC.Info.AC_Het=28338;ExAC.Info.AC_Hom=7808;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=7;snpeff.Amino_Acid_Change=c.*7delT;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=599;snpeff.Amino_Acid_Change=c.*599delA;snpeff.Amino_Acid_length=560;snpeff.Gene_Name=HABP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000351270;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000351270:ENST00000359988;SAVANT_GENE=HABP2:NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HABP2:NRAP" target="_blank">HABP2:NRAP</a>;SAVANT_INFO=+/36.6kb/13/3.0kb:-/75.2kb/42/5.5kb;SAVANT_LOC=3UTR:3UTR;SAVANT_HGVS=c.*599delA:c.*7delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HABP2:NRAP+c.*599delA:c.*7delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115348726">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1736:127	0|1:28,29:57:99:1002,0,959:127	0|1:42,24:66:99:771,0,1485:127
10	115350597	.	G	A	9542.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1885434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1885434" target="_blank">rs1885434</a>;ExAC.Info.AC=44562;ExAC.Info.AN=126704;ExAC.Info.AF=0.352;ExAC.Info.AC_Het=28479;ExAC.Info.AC_Hom=8032;snpeff.Effect=sequence_feature[repeat:Nebulin_42];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4720G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg1574Cys/c.4720C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex40;SAVANT_HGVS=c.4696C>T_p.Arg1566Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.4696C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115350597">View</a>	GT:AD:DP:GQ:PL:TP	0|0:152,0:152:99:0,457,5039:127	0|1:66,68:134:99:1956,0,1885:127	0|1:62,96:158:99:2835,0,1835:127
10	115352005	.	A	G	1937.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11196389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11196389" target="_blank">rs11196389</a>;ExAC.Info.AC=13131;ExAC.Info.AN=126702;ExAC.Info.AF=0.104;ExAC.Info.AC_Het=11578;ExAC.Info.AC_Hom=764;snpeff.Effect=sequence_feature[repeat:Nebulin_41];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4616A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_41];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4616A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu1539Pro/c.4616T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex39;SAVANT_HGVS=c.4592T>C_p.Leu1531Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.4592T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115352005">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1150:95	0|1:26,37:63:99:983,0,756:95	0|0:44,0:44:99:0,132,1611:95
10	115352167	.	C	T	1364.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=123;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11196390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11196390" target="_blank">rs11196390</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4561-107G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_40];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4561C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_40];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4561C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.4537-107G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.4537-107G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115352167">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1264:116	0|1:19,24:43:99:701,0,513:116	0|0:39,0:39:99:0,117,1267:116
10	115355328	.	A	G	3474.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=532;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11196391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11196391" target="_blank">rs11196391</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4560+54T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_40];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4561A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_40];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4561A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.4536+54T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.4536+54T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115355328">View</a>	GT:AD:DP:GQ:PL:TP	0|0:186,0:186:99:0,558,5948:127	0|0:199,0:199:99:0,597,6701:127	0|1:82,65:147:99:1756,0,2335:127
10	115364585	.	A	G	6718.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs45438894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45438894" target="_blank">rs45438894</a>;ExAC.Info.AC=564;ExAC.Info.AN=126704;ExAC.Info.AF=4.451e-03;ExAC.Info.AC_Het=562;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[repeat:Nebulin_35];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4034A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met1345Thr/c.4034T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.4010T>C_p.Met1337Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.4010T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115364585">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,40:87:99:1268,0,1374:127	1|0:48,43:91:99:1313,0,1553:127	0|0:101,0:101:99:0,303,3468:127
10	115370254	.	A	G	7978.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=763;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12243176;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12243176" target="_blank">rs12243176</a>;ExAC.Info.AC=58938;ExAC.Info.AN=126704;ExAC.Info.AF=0.465;ExAC.Info.AC_Het=30675;ExAC.Info.AC_Hom=14120;snpeff.Effect=sequence_feature[repeat:Nebulin_31];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3591A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_31];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3591A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile1197Ile/c.3591T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.3567T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.3567T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115370254">View</a>	GT:AD:DP:GQ:PL:TP	0|0:228,0:228:99:0,707,12599:127	0|0:288,0:288:99:0,873,16218:127	0|1:137,110:247:99:4008,0,7114:127
10	115370274	.	T	C	6952.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=739;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10749138;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10749138" target="_blank">rs10749138</a>;cosmic68.Histology_subtype=squamous_cell_carcinoma;ExAC.Info.AC=58650;ExAC.Info.AN=126704;ExAC.Info.AF=0.463;ExAC.Info.AC_Het=30605;ExAC.Info.AC_Hom=14010;snpeff.Effect=sequence_feature[repeat:Nebulin_31];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3571T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_31];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3571T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile1191Val/c.3571A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.3547A>G_p.Ile1183Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.3547A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115370274">View</a>	GT:AD:DP:GQ:PL:TP	0|0:224,0:224:99:0,686,12310:127	0|0:273,0:273:99:0,837,15881:127	0|1:147,95:242:99:3495,0,7554:127
10	115374670	.	A	G	3560.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3121453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3121453" target="_blank">rs3121453</a>;ExAC.Info.AC=22888;ExAC.Info.AN=126704;ExAC.Info.AF=0.181;ExAC.Info.AC_Het=18104;ExAC.Info.AC_Hom=2390;snpeff.Effect=sequence_feature[repeat:Nebulin_26];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3138A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_26];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3138A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp1046Asp/c.3138T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.3114T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.3114T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115374670">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,1:129:99:0,359,4367:127	0|0:165,0:165:99:0,495,5840:127	0|1:65,70:135:99:1799,0,1830:127
10	115381747	.	G	A	7469.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs868738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=868738" target="_blank">rs868738</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37867;ExAC.Info.AN=126704;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=25153;ExAC.Info.AC_Hom=6352;snpeff.Effect=sequence_feature[repeat:Nebulin_22];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2674G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg892Cys/c.2674C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2650C>T_p.Arg884Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.2650C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115381747">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,30:66:99:919,0,1042:127	0/1:39,35:74:99:1087,0,1133:127	0/1:29,32:61:99:961,0,793:127
10	115385976	.	A	C	5906.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3814578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814578" target="_blank">rs3814578</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2170-72T>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2170A>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2170A>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2146-72T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.2146-72T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115385976">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,53:106:99:1385,0,1278:127	0|0:154,1:155:99:0,455,5026:127	1|0:46,44:90:99:1153,0,1281:127
10	115389366	.	G	A	4156.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2286735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2286735" target="_blank">rs2286735</a>;ExAC.Info.AC=39280;ExAC.Info.AN=126698;ExAC.Info.AF=0.310;ExAC.Info.AC_Het=26434;ExAC.Info.AC_Hom=6393;snpeff.Effect=sequence_feature[repeat:Nebulin_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2045G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2045G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala682Val/c.2045C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2021C>T_p.Ala674Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.2021C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115389366">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,22:31:99:887,0,519:99	1|0:13,24:37:99:943,0,785:99	0|0:33,0:33:99:0,99,2160:99
10	115392919	.	T	A	12333.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|P|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2270182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270182" target="_blank">rs2270182</a>;ExAC.Info.AC=33425;ExAC.Info.AN=126702;ExAC.Info.AF=0.264;ExAC.Info.AC_Het=24117;ExAC.Info.AC_Hom=4647;snpeff.Effect=sequence_feature[repeat:Nebulin_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556T>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1556T>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aTt;snpeff.Amino_Acid_Change=p.Asn519Ile/c.1556A>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1556A>T_p.Asn519Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.1556A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115392919">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,65:119:99:1818,0,1435:127	0|0:163,0:163:99:0,490,5418:127	1|1:0,103:103:99:3426,309,0:127
10	115393929	.	G	A	2260.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3189030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3189030" target="_blank">rs3189030</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=38815;ExAC.Info.AN=126704;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=25958;ExAC.Info.AC_Hom=6427;snpeff.Effect=sequence_feature[repeat:Nebulin_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1469G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1469G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCg/tTg;snpeff.Amino_Acid_Change=p.Ser490Leu/c.1469C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1469C>T_p.Ser490Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.1469C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115393929">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,297,3176:127	0|1:43,42:85:99:1149,0,1182:127	0|0:65,0:65:99:0,195,2169:127
10	115393948	.	C	T	6116.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|D|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11196400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11196400" target="_blank">rs11196400</a>;ExAC.Info.AC=19525;ExAC.Info.AN=126704;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=16013;ExAC.Info.AC_Hom=1754;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp484Asn/c.1450G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1450G>A_p.Asp484Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.1450G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115393948">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,60:103:99:1688,0,1149:127	0|0:88,0:88:99:0,264,2992:127	1|0:38,37:75:99:1131,0,982:127
10	115401031	.	AT	A	14600.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5788038;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5788038" target="_blank">rs5788038</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1323+92delA;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1324delT;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1324delT;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1323+92delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.1323+92delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115401031">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:1871,189,0:127	1|1:0,82:82:99:2424,246,0:127	1|1:0,69:69:99:2048,207,0:127
10	115401081	.	T	C	10461.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3127105;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127105" target="_blank">rs3127105</a>;ExAC.Info.AC=78073;ExAC.Info.AN=126646;ExAC.Info.AF=0.616;ExAC.Info.AC_Het=28248;ExAC.Info.AC_Hom=24572;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1323+43A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1324T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1324T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1323+43A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.1323+43A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115401081">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,40:83:99:1072,0,1365:127	1|1:0,100:100:99:3509,300,0:127	0|0:103,0:103:99:0,309,3434:127
10	115402832	.	C	T	11901.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=634;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72833785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72833785" target="_blank">rs72833785</a>;ExAC.Info.AC=1;ExAC.Info.AN=126666;ExAC.Info.AF=7.895e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1111-35G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1111C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1111C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1111-35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.1111-35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115402832">View</a>	GT:AD:DP:GQ:PL:TP	1|0:122,82:204:99:2140,0,3476:127	0|0:240,0:240:99:0,721,8475:127	1|0:89,101:190:99:2879,0,2675:127
10	115405615	.	T	C	11443.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3127106;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127106" target="_blank">rs3127106</a>;ExAC.Info.AC=78192;ExAC.Info.AN=126698;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=28358;ExAC.Info.AC_Hom=24884;snpeff.Effect=sequence_feature[repeat:Nebulin_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1079T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln360Arg/c.1079A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1079A>G_p.Gln360Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.1079A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115405615">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,34:111:99:768,0,2323:127	1|1:0,111:111:99:3827,333,0:127	0|0:94,0:94:99:0,282,3374:127
10	115405664	.	C	T	13259.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=400;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3121478;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3121478" target="_blank">rs3121478</a>;ExAC.Info.AC=78205;ExAC.Info.AN=126700;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=28362;ExAC.Info.AC_Hom=24888;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala344Thr/c.1030G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1030G>A_p.Ala344Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.1030G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115405664">View</a>	GT:AD:DP:GQ:PL:TP	0|1:100,39:139:99:858,0,2824:127	1|1:0,136:136:99:4484,407,0:127	0|0:125,0:125:99:0,375,4337:127
10	115405703	.	G	GAA	9885.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs35741231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35741231" target="_blank">rs35741231</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.994-3_994-4insTT;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994_995insAA;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994_995insAA;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994_995insTT;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.994-5_994-4dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.994-5_994-4dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115405703">View</a>	GT:AD:DP:GQ:PL:TP	0|1:86,29:115:99:533,0,2820:127	1|1:0,114:114:99:3481,342,0:127	0|0:126,0:126:99:0,379,4642:127
10	115409840	.	C	T	12612.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2275799;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275799" target="_blank">rs2275799</a>;ExAC.Info.AC=33904;ExAC.Info.AN=126704;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=24324;ExAC.Info.AC_Hom=4786;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala282Thr/c.844G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.844G>A_p.Ala282Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.844G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115409840">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,60:116:99:1522,0,1503:127	0|0:166,0:166:99:0,498,5885:127	1|1:0,116:116:99:3914,349,0:127
10	115411598	.	C	A	6398.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4918861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4918861" target="_blank">rs4918861</a>;ExAC.Info.AC=33727;ExAC.Info.AN=126704;ExAC.Info.AF=0.266;ExAC.Info.AC_Het=24293;ExAC.Info.AC_Hom=4692;snpeff.Effect=sequence_feature[repeat:Nebulin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.639C>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.639C>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctT;snpeff.Amino_Acid_Change=p.Leu213Leu/c.639G>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.639G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.639G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115411598">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,30:68:99:750,0,1132:127	0|0:83,0:83:99:0,249,2930:127	1|1:0,61:61:99:1969,183,0:127
10	115411614	.	A	G	17069.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2154028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2154028" target="_blank">rs2154028</a>;ExAC.Info.AC=113411;ExAC.Info.AN=126704;ExAC.Info.AF=0.895;ExAC.Info.AC_Het=11714;ExAC.Info.AC_Hom=50835;snpeff.Effect=sequence_feature[repeat:Nebulin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.623A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.623A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val208Ala/c.623T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.623T>C_p.Val208Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.623T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115411614">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2351,207,0:127	1|1:0,86:86:99:2926,258,0:127	1|1:0,61:61:99:1939,183,0:127
10	115412686	.	G	A	15808.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3121488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3121488" target="_blank">rs3121488</a>;ExAC.Info.AC=113446;ExAC.Info.AN=126704;ExAC.Info.AF=0.895;ExAC.Info.AC_Het=11685;ExAC.Info.AC_Hom=50863;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.570+8C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.570+8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.570+8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115412686">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:2247,168,0:127	1|1:0,74:74:99:2963,223,0:127	1|1:0,47:47:99:1667,141,0:127
10	115412687	.	C	T	4593.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3127113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127113" target="_blank">rs3127113</a>;ExAC.Info.AC=24236;ExAC.Info.AN=126702;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=18551;ExAC.Info.AC_Hom=2831;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.570+7G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571G>A;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.570+7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.570+7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115412687">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,33:55:99:902,0,621:127	1|0:36,38:74:99:1030,0,1101:127	0|0:47,0:47:99:0,140,1731:127
10	115412793	.	A	G	10695.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3737322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737322" target="_blank">rs3737322</a>;ExAC.Info.AC=34955;ExAC.Info.AN=126670;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=24345;ExAC.Info.AC_Hom=5293;snpeff.Effect=sequence_feature[repeat:Nebulin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr157Tyr/c.471T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.471T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.471T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115412793">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,47:84:99:1276,0,1018:127	0|0:113,1:114:99:0,301,3638:127	1|1:0,100:100:99:3563,301,0:127
10	115413901	.	T	C	10797.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs41310308;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41310308" target="_blank">rs41310308</a>;ExAC.Info.AC=35212;ExAC.Info.AN=126700;ExAC.Info.AF=0.278;ExAC.Info.AC_Het=24576;ExAC.Info.AC_Hom=5306;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.361-17A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.361-17A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.361-17A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115413901">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,51:119:99:1229,0,1888:127	0|0:113,0:113:99:0,339,3732:127	1|1:0,106:106:99:3565,319,0:127
10	115417289	.	G	A	42217.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=541;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1891762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1891762" target="_blank">rs1891762</a>;ExAC.Info.AC=113348;ExAC.Info.AN=126694;ExAC.Info.AF=0.895;ExAC.Info.AC_Het=11740;ExAC.Info.AC_Hom=50749;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His100His/c.300C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.300C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.300C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115417289">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,202:202:99:6469,607,0:127	1|1:0,170:170:99:6079,511,0:127	1|1:0,169:169:99:5876,508,0:127
10	115422474	.	A	G	22232.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=666;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3127122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127122" target="_blank">rs3127122</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=41078;ExAC.Info.AN=126700;ExAC.Info.AF=0.324;ExAC.Info.AC_Het=26970;ExAC.Info.AC_Hom=7041;snpeff.Effect=sequence_feature[repeat:Nebulin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Nebulin_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219A>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn73Asn/c.219T>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.219T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.219T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115422474">View</a>	GT:AD:DP:GQ:PL:TP	0/1:105,100:205:99:2923,0,2779:127	0/1:125,112:237:99:3243,0,3479:127	0/1:112,112:224:99:3464,0,3181:127
10	115423094	.	G	C	6081.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=838;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12770981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12770981" target="_blank">rs12770981</a>;ExAC.Info.AC=39825;ExAC.Info.AN=126684;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=26445;ExAC.Info.AC_Hom=6588;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.167+17C>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168G>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168G>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.168G>C;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.167+17C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.167+17C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115423094">View</a>	GT:AD:DP:GQ:PL:TP	0|0:280,0:280:99:0,841,9209:127	0|1:177,111:288:99:3057,0,5113:127	0|0:270,0:270:99:0,810,9112:127
10	115423695	.	A	C	11653.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=529;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3127124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3127124" target="_blank">rs3127124</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=54;snpeff.Amino_Acid_Change=c.-54T>G;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-54T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.-54T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115423695">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,96:173:99:2709,0,2180:127	1|0:109,94:203:99:2613,0,3361:127	0|0:153,0:153:99:0,460,5542:127
10	115423747	.	G	A	6276.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1109927;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1109927" target="_blank">rs1109927</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=106;snpeff.Amino_Acid_Change=c.-106C>T;snpeff.Amino_Acid_length=1738;snpeff.Gene_Name=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369358;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359988;SAVANT_GENE=NRAP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP" target="_blank">NRAP</a>;SAVANT_INFO=-/75.2kb/42/5.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-106C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRAP+c.-106C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115423747">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,44:100:99:1225,0,1762:127	0|0:113,0:113:99:0,340,4253:127	1|0:34,48:82:99:1403,0,1107:127
10	115438204	.	C	A	7367.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=745;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12415607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12415607" target="_blank">rs12415607</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12415607" target="_blank">rs12415607</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115438204">View</a>	GT:AD:DP:GQ:PL:TP	0|0:229,0:229:99:0,688,7249:127	0|1:151,129:280:99:3702,0,4077:127	0|0:236,0:236:99:0,709,7929:127
10	115439640	.	CTT	C	3136.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10553596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10553596" target="_blank">rs10553596</a>;ExAC.Info.AC=3533;ExAC.Info.AN=14846;ExAC.Info.AF=0.238;ExAC.Info.AC_Het=2213;ExAC.Info.AC_Hom=490;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12089;snpeff.Amino_Acid_Change=c.-105_-106delTT;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CASP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP7" target="_blank">CASP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369321;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369321;SAVANT_GENE=CASP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP7" target="_blank">CASP7</a>;SAVANT_INFO=+/51.2kb/8/2.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12088_-12087delTT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASP7+c.-12088_-12087delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115439640">View</a>	GT:AD:DP:GQ:PL:TP	1|0:4,18:22:99:744,0,112:114	0|0:38,0:38:99:0,114,1696:114	1|0:15,13:28:99:497,0,585:114
10	115489152	.	C	G	12574.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=460;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2227310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227310" target="_blank">rs2227310</a>;ExAC.Info.AC=32959;ExAC.Info.AN=126704;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=23865;ExAC.Info.AC_Hom=4544;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaG;snpeff.Amino_Acid_Change=p.Asp288Glu/c.864C>G;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CASP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP7" target="_blank">CASP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369321;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369321;SAVANT_GENE=CASP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP7" target="_blank">CASP7</a>;SAVANT_INFO=+/51.2kb/8/2.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.864C>G_p.Asp288Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASP7+c.864C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115489152">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,64:132:99:1762,0,1819:127	0/1:91,76:167:99:2245,0,2860:127	0/1:101,60:161:99:1696,0,3003:127
10	115489167	.	G	A	13399.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=506;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2227309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227309" target="_blank">rs2227309</a>;ExAC.Info.AC=32916;ExAC.Info.AN=126704;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=23876;ExAC.Info.AC_Hom=4517;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln293Gln/c.879G>A;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CASP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP7" target="_blank">CASP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369321;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369321;SAVANT_GENE=CASP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP7" target="_blank">CASP7</a>;SAVANT_INFO=+/51.2kb/8/2.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.879G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASP7+c.879G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115489167">View</a>	GT:AD:DP:GQ:PL:TP	0/1:82,69:151:99:1897,0,2461:127	0/1:108,78:186:99:2159,0,3300:127	0/1:99,70:169:99:1985,0,3047:127
10	115489589	.	T	C	19065.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=619;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4353229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4353229" target="_blank">rs4353229</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=290;snpeff.Amino_Acid_Change=c.*290T>C;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CASP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP7" target="_blank">CASP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369321;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369321;SAVANT_GENE=CASP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP7" target="_blank">CASP7</a>;SAVANT_INFO=+/51.2kb/8/2.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*290T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASP7+c.*290T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115489589">View</a>	GT:AD:DP:GQ:PL:TP	0/1:108,96:204:99:2800,0,2913:127	0/1:106,112:218:99:3081,0,3025:127	0/1:96,101:197:99:2769,0,2670:127
10	115489650	.	T	G	4752.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10787498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10787498" target="_blank">rs10787498</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=351;snpeff.Amino_Acid_Change=c.*351T>G;snpeff.Amino_Acid_length=336;snpeff.Gene_Name=CASP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP7" target="_blank">CASP7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369321;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369321;SAVANT_GENE=CASP7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CASP7" target="_blank">CASP7</a>;SAVANT_INFO=+/51.2kb/8/2.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*351T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CASP7+c.*351T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115489650">View</a>	GT:AD:DP:GQ:PL:TP	0|0:167,0:167:99:0,502,5515:127	0|0:184,0:184:99:0,553,6560:127	0|1:69,80:149:99:2395,0,1971:127
10	115525175	.	T	C	14891.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4631835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4631835" target="_blank">rs4631835</a>;ExAC.Info.AC=87454;ExAC.Info.AN=118232;ExAC.Info.AF=0.740;ExAC.Info.AC_Het=21547;ExAC.Info.AC_Hom=32505;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10+26T>C;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=PLEKHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHS1" target="_blank">PLEKHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369310;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369310;SAVANT_GENE=C10orf81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf81" target="_blank">C10orf81</a>;SAVANT_INFO=+/12.9kb/12/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.10+26T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf81+c.10+26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115525175">View</a>	GT:AD:DP:GQ:PL:TP	0/1:85,84:169:99:2366,0,2369:127	0/1:101,76:177:99:1964,0,3067:127	0/1:66,79:145:99:2250,0,1799:127
10	115526177	.	A	G	3088.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10885500;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10885500" target="_blank">rs10885500</a>;ExAC.Info.AC=45531;ExAC.Info.AN=126686;ExAC.Info.AF=0.359;ExAC.Info.AC_Het=26640;ExAC.Info.AC_Hom=9382;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln6Gln/c.18A>G;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=PLEKHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHS1" target="_blank">PLEKHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369310;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369310;SAVANT_GENE=C10orf81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf81" target="_blank">C10orf81</a>;SAVANT_INFO=+/12.9kb/12/2.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.18A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf81+c.18A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115526177">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,247,2899:127	0|0:110,0:110:99:0,331,3916:127	0|1:56,53:109:99:1563,0,1764:127
10	115533975	.	T	C	6063.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3750903;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750903" target="_blank">rs3750903</a>;ExAC.Info.AC=49642;ExAC.Info.AN=126696;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=29333;ExAC.Info.AC_Hom=10099;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.655-11T>C;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=PLEKHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHS1" target="_blank">PLEKHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369310;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369310;SAVANT_GENE=C10orf81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf81" target="_blank">C10orf81</a>;SAVANT_INFO=+/12.9kb/12/2.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.655-11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf81+c.655-11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115533975">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,35:62:99:1068,0,736:127	1|0:44,46:90:99:1464,0,1377:127	0|0:83,0:83:99:0,250,3074:127
10	115540411	.	T	C	9986.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=442;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11196483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11196483" target="_blank">rs11196483</a>;ExAC.Info.AC=47928;ExAC.Info.AN=126702;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=28901;ExAC.Info.AC_Hom=9484;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PLEKHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHS1" target="_blank">PLEKHS1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHS1" target="_blank">PLEKHS1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHS1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115540411">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,70:131:99:1908,0,1565:127	1|0:94,80:174:99:2126,0,2641:127	0|0:137,0:137:99:0,412,4615:127
10	115609915	.	C	G	47491.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=595;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3750898;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750898" target="_blank">rs3750898</a>;ExAC.Info.AC=95906;ExAC.Info.AN=126704;ExAC.Info.AF=0.757;ExAC.Info.AC_Het=21226;ExAC.Info.AC_Hom=37328;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Cat;snpeff.Amino_Acid_Change=p.Asp317His/c.949G>C;snpeff.Amino_Acid_length=1040;snpeff.Gene_Name=DCLRE1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1A" target="_blank">DCLRE1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361384;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361384;SAVANT_GENE=DCLRE1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1A" target="_blank">DCLRE1A</a>;SAVANT_INFO=-/19.4kb/9/4.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.949G>C_p.Asp317His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCLRE1A+c.949G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115609915">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:5851,508,0:127	1|1:0,239:239:99:8595,718,0:127	1|1:0,187:187:99:6634,562,0:127
10	115644040	.	G	A	15892.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=474;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7913176;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7913176" target="_blank">rs7913176</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=34576;ExAC.Info.AN=126692;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=24566;ExAC.Info.AC_Hom=4985;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val314Ile/c.940G>A;snpeff.Amino_Acid_length=726;snpeff.Gene_Name=NHLRC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NHLRC2" target="_blank">NHLRC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369301;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369301;SAVANT_GENE=NHLRC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NHLRC2" target="_blank">NHLRC2</a>;SAVANT_INFO=+/62.5kb/11/11.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.940G>A_p.Val314Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NHLRC2+c.940G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115644040">View</a>	GT:AD:DP:GQ:PL:TP	1|0:78,74:152:99:1886,0,2370:127	0|0:169,0:169:99:0,508,5886:127	1|1:0,153:153:99:4935,460,0:127
10	115675025	.	G	A	22631.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7895609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7895609" target="_blank">rs7895609</a>;ExAC.Info.AC=9771;ExAC.Info.AN=13962;ExAC.Info.AF=0.700;ExAC.Info.AC_Het=2184;ExAC.Info.AC_Hom=3145;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=6730;snpeff.Amino_Acid_Change=c.*6730G>A;snpeff.Amino_Acid_length=726;snpeff.Gene_Name=NHLRC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NHLRC2" target="_blank">NHLRC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369301;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu114Leu/c.342G>A;snpeff.Amino_Acid_length=123;snpeff.Gene_Name=AL162407.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NHLRC2" target="_blank">NHLRC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000451472;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000451472:ENST00000369301;SAVANT_GENE=AL162407.1:NHLRC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL1624071:NHLRC2" target="_blank">AL1624071:NHLRC2</a>;SAVANT_INFO=+/2.4kb/1/2.4kb:+/62.5kb/11/11.1kb;SAVANT_LOC=Ex1:3UTR;SAVANT_HGVS=c.342G>A_p.=:c.*6730G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL1624071:NHLRC2+c.342G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115675025">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3076,282,0:127	1|1:0,111:111:99:3774,334,0:127	1|1:0,83:83:99:2924,250,0:127
10	115805056	.	G	C	28272.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=[Resting_heart_rate]|_607276_(3)|_{Congestive_heart_failure_and_beta-blocker_response|_modifier_of}_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1801253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1801253" target="_blank">rs1801253</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Gain_of_function;hgmd_2014.2.OMIM_ID=109630;hgmd_2014.2.PubMed=10212248;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10212248" target="_blank">10212248</a>;ExAC.Info.AC=88574;ExAC.Info.AN=121922;ExAC.Info.AF=0.726;ExAC.Info.AC_Het=22214;ExAC.Info.AC_Hom=31420;Clinvar.ClinicalSignificance=drug_response;Clinvar.RCVaccession=RCV000019322;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Cga;snpeff.Amino_Acid_Change=p.Gly389Arg/c.1165G>C;snpeff.Amino_Acid_length=477;snpeff.Gene_Name=ADRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADRB1" target="_blank">ADRB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369295;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369295;SAVANT_GENE=ADRB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADRB1" target="_blank">ADRB1</a>;SAVANT_INFO=+/2.9kb/1/2.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1165G>C_p.Gly389Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADRB1+c.1165G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115805056">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019322" target="_blank">drug_response</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:2996,284,0:127	1|1:0,129:129:99:4051,386,0:127	1|1:0,99:99:99:3036,295,0:127
10	115933905	.	C	T	3587.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17091403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17091403" target="_blank">rs17091403</a>;ExAC.Info.AC=1482;ExAC.Info.AN=25466;ExAC.Info.AF=0.058;ExAC.Info.AC_Het=1267;ExAC.Info.AC_Hom=66;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.34G>A;snpeff.Gene_Name=MIR2110;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR2110" target="_blank">MIR2110</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000459421;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10878;snpeff.Amino_Acid_Change=c.-193G>A;snpeff.Amino_Acid_length=898;snpeff.Gene_Name=C10orf118;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR2110" target="_blank">MIR2110</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369287;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369287;SAVANT_GENE=C10orf118;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf118" target="_blank">C10orf118</a>;SAVANT_INFO=-/53.4kb/16/7.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-10878G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf118+c.-10878G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:115933905">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,25:59:99:697,0,952:127	0|0:47,0:47:99:0,141,1515:127	1|0:20,21:41:99:514,0,460:127
10	116013367	.	CT	C	4871.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=433;MQ=70.04;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs59164459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59164459" target="_blank">rs59164459</a>;ExAC.Info.AC=24899;ExAC.Info.AN=126084;ExAC.Info.AF=0.197;ExAC.Info.AC_Het=19318;ExAC.Info.AC_Hom=2651;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.53-42delT;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53delT;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53delT;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000298715;SAVANT_GENE=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;SAVANT_INFO=+/50.7kb/12/2.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.53-42delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA2+c.53-42delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116013367">View</a>	GT:AD:DP:GQ:PL:TP	0|0:129,0:129:99:0,388,5114:127	0|1:95,76:171:99:2459,0,3269:127	0|0:133,0:133:99:0,400,5262:127
10	116032519	.	A	G	8187.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs597371;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=597371" target="_blank">rs597371</a>;ExAC.Info.AC=60076;ExAC.Info.AN=126696;ExAC.Info.AF=0.474;ExAC.Info.AC_Het=29844;ExAC.Info.AC_Hom=15063;snpeff.Effect=sequence_feature[domain:VWFA_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392A>G;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392A>G;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392A>G;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFA_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392A>G;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu131Gly/c.392A>G;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298715;SAVANT_GENE=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;SAVANT_INFO=+/50.7kb/12/2.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.392A>G_p.Glu131Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA2+c.392A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116032519">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,40:82:99:1103,0,992:127	0/1:32,39:71:99:1123,0,816:127	0/1:36,37:73:99:1131,0,1019:127
10	116044587	.	C	T	660.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10787521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10787521" target="_blank">rs10787521</a>;ExAC.Info.AC=40301;ExAC.Info.AN=125206;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=15831;ExAC.Info.AC_Hom=4914;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.890-35C>T;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.890C>T;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.890C>T;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.890C>T;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298715;SAVANT_GENE=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;SAVANT_INFO=+/50.7kb/12/2.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.890-35C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA2+c.890-35C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116044587">View</a>	GT:AD:DP:GQ:PL:TP	0|0:21,0:21:63:0,63,724:38	0|1:7,14:21:99:349,0,166:38	0|0:13,0:13:39:0,39,472:38
10	116050008	.	A	G	2864.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11196686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11196686" target="_blank">rs11196686</a>;ExAC.Info.AC=2302;ExAC.Info.AN=23992;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=1850;ExAC.Info.AC_Hom=160;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln711Arg/c.2132A>G;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116050008">View</a>	GT:AD:DP:GQ:PL:TP	0|0:159,0:159:99:0,477,4916:127	0|1:65,53:118:99:1450,0,1959:127	0|0:96,0:96:99:0,288,3273:127
10	116050019	.	C	T	2364.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs62623671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62623671" target="_blank">rs62623671</a>;ExAC.Info.AC=202;ExAC.Info.AN=24388;ExAC.Info.AF=8.283e-03;ExAC.Info.AC_Het=180;ExAC.Info.AC_Hom=3;snpeff.Effect=sequence_feature[domain:EGF-like_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2143C>T;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu715Phe/c.2143C>T;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116050019">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,0:149:99:0,448,5008:127	0|0:125,0:125:99:0,376,4363:127	0|1:53,43:96:99:1201,0,1592:127
10	116051017	.	G	A	6275.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61869920;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61869920" target="_blank">rs61869920</a>;ExAC.Info.AC=584;ExAC.Info.AN=22948;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=467;ExAC.Info.AC_Hom=13;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=21;snpeff.Amino_Acid_Change=c.*21G>A;snpeff.Amino_Acid_length=755;snpeff.Gene_Name=VWA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392982;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWA2" target="_blank">VWA2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWA2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116051017">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,40:77:99:1096,0,1026:127	0|0:111,0:111:99:0,333,3843:127	1|0:31,39:70:99:1086,0,896:127
10	116060194	.	A	AG	19003.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3214266;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3214266" target="_blank">rs3214266</a>;ExAC.Info.AC=119309;ExAC.Info.AN=126702;ExAC.Info.AF=0.942;ExAC.Info.AC_Het=6855;ExAC.Info.AC_Hom=56209;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1947+10_1947+9insC;snpeff.Amino_Acid_length=871;snpeff.Gene_Name=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545353;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000304129;SAVANT_GENE=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;SAVANT_INFO=-/109.7kb/19/3.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1788+9dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AFAP1L2+c.1788+9dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116060194">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3091,279,0:127	1|1:0,92:92:99:3011,276,0:127	1|1:0,59:59:99:2044,180,0:127
10	116060387	.	T	C	33950.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=507;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2286396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2286396" target="_blank">rs2286396</a>;ExAC.Info.AC=98625;ExAC.Info.AN=126702;ExAC.Info.AF=0.778;ExAC.Info.AC_Het=19568;ExAC.Info.AC_Hom=39445;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgG;snpeff.Amino_Acid_Change=p.Arg588Arg/c.1764A>G;snpeff.Amino_Acid_length=871;snpeff.Gene_Name=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545353;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304129;SAVANT_GENE=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;SAVANT_INFO=-/109.7kb/19/3.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1605A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AFAP1L2+c.1605A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116060387">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,147:147:99:4940,441,0:127	1|0:87,111:198:99:3192,0,2403:127	1|1:0,162:162:99:5566,486,0:127
10	116068176	.	A	G	12364.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs581327;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=581327" target="_blank">rs581327</a>;ExAC.Info.AC=117295;ExAC.Info.AN=126704;ExAC.Info.AF=0.926;ExAC.Info.AC_Het=8509;ExAC.Info.AC_Hom=54308;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1126+16T>C;snpeff.Amino_Acid_length=871;snpeff.Gene_Name=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545353;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304129;SAVANT_GENE=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;SAVANT_INFO=-/109.7kb/19/3.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.967+16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AFAP1L2+c.967+16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116068176">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1629,138,0:127	1|1:0,59:59:99:1981,177,0:127	1|1:0,43:43:99:1508,129,0:127
10	116073696	.	C	T	18740.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=404;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3813722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813722" target="_blank">rs3813722</a>;ExAC.Info.AC=92126;ExAC.Info.AN=126704;ExAC.Info.AF=0.727;ExAC.Info.AC_Het=20606;ExAC.Info.AC_Hom=35743;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr295Thr/c.885G>A;snpeff.Amino_Acid_length=871;snpeff.Gene_Name=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545353;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304129;SAVANT_GENE=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;SAVANT_INFO=-/109.7kb/19/3.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.726G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AFAP1L2+c.726G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116073696">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4092,366,0:127	1|0:85,85:170:99:2268,0,2463:127	1|0:60,52:112:99:1313,0,1890:127
10	116073801	.	T	C	4062.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs621375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=621375" target="_blank">rs621375</a>;ExAC.Info.AC=29749;ExAC.Info.AN=126700;ExAC.Info.AF=0.235;ExAC.Info.AC_Het=19920;ExAC.Info.AC_Hom=4899;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys260Lys/c.780A>G;snpeff.Amino_Acid_length=871;snpeff.Gene_Name=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545353;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304129;SAVANT_GENE=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;SAVANT_INFO=-/109.7kb/19/3.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.621A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AFAP1L2+c.621A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116073801">View</a>	GT:AD:DP:GQ:PL:TP	0|0:162,0:162:99:0,486,5358:127	0|1:80,71:151:99:2050,0,2284:127	0|0:111,0:111:99:0,334,3948:127
10	116079505	.	G	A	5771.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10885547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10885547" target="_blank">rs10885547</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.565+3425C>T;snpeff.Amino_Acid_length=871;snpeff.Gene_Name=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545353;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304129;SAVANT_GENE=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;SAVANT_INFO=-/109.7kb/19/3.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.406+3425C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AFAP1L2+c.406+3425C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116079505">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:942,90,0:44	1|1:0,27:27:81:995,81,0:44	1|1:0,15:15:45:537,45,0:44
10	116085744	.	G	C	3324.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs66638979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66638979" target="_blank">rs66638979</a>;ExAC.Info.AC=1640;ExAC.Info.AN=15296;ExAC.Info.AF=0.107;ExAC.Info.AC_Het=1284;ExAC.Info.AC_Hom=150;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aGc;snpeff.Amino_Acid_Change=p.Thr124Ser/c.371C>G;snpeff.Amino_Acid_length=871;snpeff.Gene_Name=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545353;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304129;SAVANT_GENE=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;SAVANT_INFO=-/109.7kb/19/3.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.316-2724C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AFAP1L2+c.316-2724C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116085744">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,295,3373:127	0|1:66,60:126:99:1681,0,1995:127	0|0:91,0:91:99:0,273,3275:127
10	116085782	.	G	GCCC	4003.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=359;MQ=70.02;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs111594798;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111594798" target="_blank">rs111594798</a>;ExAC.Info.AC=1885;ExAC.Info.AN=10026;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=1396;ExAC.Info.AC_Hom=180;snpeff.Effect=disruptive_inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ggc/ggGGGc;snpeff.Amino_Acid_Change=p.Gly111_Gln112insGlyGly/c.332_333insGGG;snpeff.Amino_Acid_length=871;snpeff.Gene_Name=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545353;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000304129;SAVANT_GENE=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;SAVANT_INFO=-/109.7kb/19/3.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.316-2765_316-2763dupGGG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AFAP1L2+c.316-2765_316-2763dupGGG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116085782">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,333,3815:127	0|1:76,68:144:99:2025,0,1944:127	0|0:106,0:106:99:0,318,3579:127
10	116085784	.	C	CCCG	24700.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=367;MQ=70.02;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs74928179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74928179" target="_blank">rs74928179</a>;ExAC.Info.AC=8177;ExAC.Info.AN=14022;ExAC.Info.AF=0.583;ExAC.Info.AC_Het=2573;ExAC.Info.AC_Hom=2234;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ttg/ttgCGG;snpeff.Amino_Acid_Change=p.Leu110_Gly111insLeuArg/c.330_331insCGG;snpeff.Amino_Acid_length=871;snpeff.Gene_Name=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545353;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000304129;SAVANT_GENE=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;SAVANT_INFO=-/109.7kb/19/3.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.316-2765_316-2764insCGG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AFAP1L2+c.316-2765_316-2764insCGG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116085784">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:3910,342,0:127	1|0:73,77:150:99:1975,0,2061:127	1|1:0,106:106:99:3607,320,0:127
10	116091555	.	T	C	8600.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10787524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10787524" target="_blank">rs10787524</a>;ExAC.Info.AC=44970;ExAC.Info.AN=65368;ExAC.Info.AF=0.688;ExAC.Info.AC_Het=2877;ExAC.Info.AC_Hom=5263;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.315+7A>G;snpeff.Amino_Acid_length=871;snpeff.Gene_Name=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545353;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316A>G;snpeff.Amino_Acid_length=871;snpeff.Gene_Name=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545353;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304129;SAVANT_GENE=AFAP1L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AFAP1L2" target="_blank">AFAP1L2</a>;SAVANT_INFO=-/109.7kb/19/3.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.315+7A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AFAP1L2+c.315+7A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116091555">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1164,105,0:71	1|1:0,24:24:72:876,72,0:71	1|1:0,40:40:99:1271,120,0:71
10	116203906	.	A	C	2917.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72826956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72826956" target="_blank">rs72826956</a>;ExAC.Info.AC=28990;ExAC.Info.AN=126506;ExAC.Info.AF=0.229;ExAC.Info.AC_Het=20945;ExAC.Info.AC_Hom=3848;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1828-13T>G;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828A>C;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828A>C;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336585;SAVANT_GENE=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;SAVANT_INFO=-/227.2kb/23/7.6kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1828-13T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABLIM1+c.1828-13T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116203906">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,26:49:99:714,0,591:110	0|0:47,1:48:99:0,111,1661:110	1|0:35,17:52:99:406,0,1050:110
10	116203911	.	GA	G	1291.31	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=79;MQ=70.03;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11338035;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11338035" target="_blank">rs11338035</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1828-19delT;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828delA;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1828delA;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000336585;SAVANT_GENE=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;SAVANT_INFO=-/227.2kb/23/7.6kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1828-19delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABLIM1+c.1828-19delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116203911">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,17:22:58:295,0,58:25	0/1:21,4:25:25:25,0,383:25	0/1:20,12:32:99:182,0,364:25
10	116222749	.	G	A	2411.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7920878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7920878" target="_blank">rs7920878</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1441+2708C>T;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336585;SAVANT_GENE=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;SAVANT_INFO=-/227.2kb/23/7.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1441+2708C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABLIM1+c.1441+2708C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116222749">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,14:37:99:325,0,602:120	0|0:40,0:40:99:0,120,1302:120	1|0:10,22:32:99:589,0,270:120
10	116251686	.	T	A	4704.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12784116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12784116" target="_blank">rs12784116</a>;ExAC.Info.AC=30897;ExAC.Info.AN=126694;ExAC.Info.AF=0.244;ExAC.Info.AC_Het=22266;ExAC.Info.AC_Hom=4278;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.895-49A>T;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.895T>A;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.895T>A;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.895T>A;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336585;SAVANT_GENE=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;SAVANT_INFO=-/227.2kb/23/7.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.895-49A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABLIM1+c.895-49A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116251686">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,36:59:99:903,0,521:127	0|0:73,1:74:99:0,184,2363:127	1|0:43,38:81:99:997,0,1126:127
10	116307504	.	A	G	21427.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2247528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2247528" target="_blank">rs2247528</a>;ExAC.Info.AC=91995;ExAC.Info.AN=126702;ExAC.Info.AF=0.726;ExAC.Info.AC_Het=24340;ExAC.Info.AC_Hom=33704;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.705A>G;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.705A>G;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.705A>G;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn235Asn/c.705T>C;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336585;SAVANT_GENE=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;SAVANT_INFO=-/227.2kb/23/7.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.705T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABLIM1+c.705T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116307504">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2835,252,0:127	1|1:0,103:103:99:3579,310,0:127	1|1:0,70:70:99:2418,210,0:127
10	116335246	.	G	A	2347.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs985273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=985273" target="_blank">rs985273</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=27416;ExAC.Info.AN=126704;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=20558;ExAC.Info.AC_Hom=3425;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.492G>A;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.492G>A;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe164Phe/c.492C>T;snpeff.Amino_Acid_length=778;snpeff.Gene_Name=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000277895;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336585;SAVANT_GENE=ABLIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABLIM1" target="_blank">ABLIM1</a>;SAVANT_INFO=-/227.2kb/23/7.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.492C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABLIM1+c.492C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116335246">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2267:127	0|1:54,42:96:99:1192,0,1589:127	0|0:56,0:56:99:0,168,2042:127
10	116527877	.	C	A	74.77	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=29;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs808293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=808293" target="_blank">rs808293</a>;ExAC.Info.AC=757;ExAC.Info.AN=19044;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=620;ExAC.Info.AC_Hom=34;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.205+3126C>A;snpeff.Gene_Name=RP11-106M7.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-106M71" target="_blank">RP11-106M71</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000436932;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-106M71" target="_blank">RP11-106M71</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-106M71+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116527877">View</a>	GT:AD:DP:GQ:PL:TP	0|0:8,0:8:24:0,24,239:23	0|0:13,0:13:39:0,39,384:23	0|1:6,2:8:56:56,0,149:23
10	116593175	.	C	T	22458.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=484;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11196939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11196939" target="_blank">rs11196939</a>;ExAC.Info.AC=54261;ExAC.Info.AN=126704;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=30162;ExAC.Info.AC_Hom=12043;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.294+14C>T;snpeff.Amino_Acid_length=765;snpeff.Gene_Name=FAM160B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369248;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369248;SAVANT_GENE=FAM160B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;SAVANT_INFO=+/43.0kb/17/5.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.294+14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160B1+c.294+14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116593175">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,147:147:99:4691,442,0:127	1|0:111,66:177:99:1846,0,3460:127	1|0:85,75:160:99:2033,0,2487:127
10	116602805	.	A	G	16798.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=651;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17092491;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17092491" target="_blank">rs17092491</a>;ExAC.Info.AC=14026;ExAC.Info.AN=126704;ExAC.Info.AF=0.111;ExAC.Info.AC_Het=12032;ExAC.Info.AC_Hom=992;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu212Glu/c.636A>G;snpeff.Amino_Acid_length=765;snpeff.Gene_Name=FAM160B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369248;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369248;SAVANT_GENE=FAM160B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;SAVANT_INFO=+/43.0kb/17/5.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.636A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160B1+c.636A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116602805">View</a>	GT:AD:DP:GQ:PL:TP	0|1:114,88:202:99:2608,0,3305:127	1|0:125,136:261:99:4195,0,3314:127	0|0:188,0:188:99:0,565,6495:127
10	116605103	.	A	G	11055.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2420069;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2420069" target="_blank">rs2420069</a>;ExAC.Info.AC=54481;ExAC.Info.AN=126672;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=30113;ExAC.Info.AC_Hom=12082;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1014-23A>G;snpeff.Amino_Acid_length=765;snpeff.Gene_Name=FAM160B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369248;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369248;SAVANT_GENE=FAM160B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;SAVANT_INFO=+/43.0kb/17/5.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1014-23A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160B1+c.1014-23A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116605103">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2734,231,0:127	1|0:50,39:89:99:1017,0,1435:127	1|0:31,35:66:99:948,0,904:127
10	116615045	.	T	C	11359.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=659;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3180654;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3180654" target="_blank">rs3180654</a>;ExAC.Info.AC=40502;ExAC.Info.AN=126704;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=25930;ExAC.Info.AC_Hom=7268;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe631Phe/c.1893T>C;snpeff.Amino_Acid_length=765;snpeff.Gene_Name=FAM160B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369248;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369248;SAVANT_GENE=FAM160B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;SAVANT_INFO=+/43.0kb/17/5.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1893T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160B1+c.1893T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116615045">View</a>	GT:AD:DP:GQ:PL:TP	1|0:128,97:225:99:2344,0,3817:127	0|0:234,0:234:99:0,703,8320:127	1|0:111,89:200:99:2496,0,3126:127
10	116621154	.	C	A	5080.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs34064819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34064819" target="_blank">rs34064819</a>;ExAC.Info.AC=40076;ExAC.Info.AN=126686;ExAC.Info.AF=0.316;ExAC.Info.AC_Het=25797;ExAC.Info.AC_Hom=7097;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2193-40C>A;snpeff.Amino_Acid_length=765;snpeff.Gene_Name=FAM160B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369248;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369248;SAVANT_GENE=FAM160B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;SAVANT_INFO=+/43.0kb/17/5.8kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2193-40C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160B1+c.2193-40C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116621154">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,27:64:99:701,0,1235:127	0|0:98,0:98:99:0,295,3611:127	1|0:42,41:83:99:1277,0,1341:127
10	116659253	.	A	G	20443.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10885629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10885629" target="_blank">rs10885629</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=14359;ExAC.Info.AN=26326;ExAC.Info.AF=0.545;ExAC.Info.AC_Het=5770;ExAC.Info.AC_Hom=3974;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FAM160B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160B1" target="_blank">FAM160B1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160B1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116659253">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3342,288,0:127	1|0:47,63:110:99:1909,0,1299:127	1|1:0,83:83:99:2999,249,0:127
10	116719498	.	T	C	10356.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=480;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs62623677;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62623677" target="_blank">rs62623677</a>;ExAC.Info.AC=1999;ExAC.Info.AN=126702;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=1942;ExAC.Info.AC_Hom=27;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile152Thr/c.455T>C;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=TRUB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRUB1" target="_blank">TRUB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298746;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298746;SAVANT_GENE=TRUB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRUB1" target="_blank">TRUB1</a>;SAVANT_INFO=+/39.5kb/8/3.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.455T>C_p.Ile152Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRUB1+c.455T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116719498">View</a>	GT:AD:DP:GQ:PL:TP	1|0:83,66:149:99:1802,0,2165:127	0|0:173,0:173:99:0,520,5837:127	1|0:71,87:158:99:2459,0,2033:127
10	116719543	.	G	A	11527.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7099565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7099565" target="_blank">rs7099565</a>;ExAC.Info.AC=53654;ExAC.Info.AN=126700;ExAC.Info.AF=0.423;ExAC.Info.AC_Het=27792;ExAC.Info.AC_Hom=12878;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg167Lys/c.500G>A;snpeff.Amino_Acid_length=349;snpeff.Gene_Name=TRUB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRUB1" target="_blank">TRUB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298746;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298746;SAVANT_GENE=TRUB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRUB1" target="_blank">TRUB1</a>;SAVANT_INFO=+/39.5kb/8/3.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.500G>A_p.Arg167Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRUB1+c.500G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116719543">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,51:110:99:1346,0,1624:127	0|0:140,0:140:99:0,421,4766:127	1|1:0,112:112:99:3970,337,0:127
10	116931101	.	C	CTT	61295.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=694;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3086141;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3086141" target="_blank">rs3086141</a>;ExAC.Info.AC=124344;ExAC.Info.AN=126090;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1392;ExAC.Info.AC_Hom=59997;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1348+52_1348+53insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Kelch_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:Kelch_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1349_1350insTT;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000355044;SAVANT_GENE=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;SAVANT_INFO=+/855.1kb/29/8.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1348+52_1348+53insTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATRNL1+c.1348+52_1348+53insTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:116931101">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,235:235:99:10609,718,0:127	1|1:0,237:237:99:10559,717,0:127	1|1:0,222:222:99:9969,671,0:127
10	117075175	.	G	A	40692.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=576;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1953758;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1953758" target="_blank">rs1953758</a>;ExAC.Info.AC=123384;ExAC.Info.AN=126696;ExAC.Info.AF=0.974;ExAC.Info.AC_Het=3191;ExAC.Info.AC_Hom=60057;snpeff.Effect=sequence_feature[domain:PSI_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" 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target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" 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target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" 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target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser989Asn/c.2966G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355044;SAVANT_GENE=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;SAVANT_INFO=+/855.1kb/29/8.5kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2966G>A_p.Ser989Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATRNL1+c.2966G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117075175">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,174:174:99:5792,522,0:127	1|1:0,231:231:99:7605,693,0:127	1|1:0,171:171:99:5671,514,0:127
10	117228794	.	A	G	24672.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=576;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10885721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10885721" target="_blank">rs10885721</a>;ExAC.Info.AC=54815;ExAC.Info.AN=126496;ExAC.Info.AF=0.433;ExAC.Info.AC_Het=29576;ExAC.Info.AC_Hom=12405;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr1203Thr/c.3609A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355044;SAVANT_GENE=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;SAVANT_INFO=+/855.1kb/29/8.5kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.3609A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATRNL1+c.3609A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117228794">View</a>	GT:AD:DP:GQ:PL:TP	0|1:85,82:167:99:2160,0,2340:127	1|1:0,224:224:99:7445,673,0:127	0|1:89,96:185:99:2427,0,2538:127
10	117308880	.	A	G	8457.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1336109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1336109" target="_blank">rs1336109</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3717-88A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3717A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3717A>G;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355044;SAVANT_GENE=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;SAVANT_INFO=+/855.1kb/29/8.5kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3717-88A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATRNL1+c.3717-88A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117308880">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1960,144,0:127	1|0:23,28:51:99:992,0,691:127	1|0:26,31:57:99:1049,0,786:127
10	117309098	.	G	A	16149.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1336108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1336108" target="_blank">rs1336108</a>;ExAC.Info.AC=80575;ExAC.Info.AN=126272;ExAC.Info.AF=0.638;ExAC.Info.AC_Het=23326;ExAC.Info.AC_Hom=24561;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3795+52G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3796G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3796G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3796G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3796G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355044;SAVANT_GENE=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;SAVANT_INFO=+/855.1kb/29/8.5kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3795+52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATRNL1+c.3795+52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117309098">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2484,210,0:127	1|1:0,84:84:99:3111,253,0:127	1|1:0,74:74:99:2647,223,0:127
10	117357169	.	G	A	207.21	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=19;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11197326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11197326" target="_blank">rs11197326</a>;ExAC.Info.AC=7304;ExAC.Info.AN=13740;ExAC.Info.AF=0.532;ExAC.Info.AC_Het=2672;ExAC.Info.AC_Hom=2024;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3795+48123G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3796G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3796G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3796G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3796G>A;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355044;SAVANT_GENE=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;SAVANT_INFO=+/855.1kb/29/8.5kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3795+48123G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATRNL1+c.3795+48123G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117357169">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,1:6:17:17,0,118:15	0|0:7,0:7:21:0,21,273:15	1|0:3,3:6:92:92,0,100:15
10	117486763	.	G	T	26142.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=539;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2254619;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2254619" target="_blank">rs2254619</a>;ExAC.Info.AC=41141;ExAC.Info.AN=126702;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=25239;ExAC.Info.AC_Hom=7904;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3801G>T;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3801G>T;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3801G>T;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3801G>T;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctT;snpeff.Amino_Acid_Change=p.Leu1267Leu/c.3801G>T;snpeff.Amino_Acid_length=1379;snpeff.Gene_Name=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355044;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355044;SAVANT_GENE=ATRNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATRNL1" target="_blank">ATRNL1</a>;SAVANT_INFO=+/855.1kb/29/8.5kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3801G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATRNL1+c.3801G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117486763">View</a>	GT:AD:DP:GQ:PL:TP	0|1:73,91:164:99:2482,0,1982:127	1|1:2,217:219:99:7189,609,0:127	0|1:85,71:156:99:1926,0,2599:127
10	117823739	.	A	G	5530.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=338;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1078080;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1078080" target="_blank">rs1078080</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=170;snpeff.Amino_Acid_Change=c.*170T>C;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439649;SAVANT_GENE=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;SAVANT_INFO=-/216.7kb/11/9.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*170T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFRA1+c.*170T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117823739">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,49:100:99:1372,0,1475:127	0|0:133,0:133:99:0,400,4698:127	1|0:56,49:105:99:1448,0,1701:127
10	117823767	.	GA	G	137.6	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=417;MQ=70.02;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs144589291;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144589291" target="_blank">rs144589291</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=141;snpeff.Amino_Acid_Change=c.*141delT;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000439649;SAVANT_GENE=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;SAVANT_INFO=-/216.7kb/11/9.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*141delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFRA1+c.*141delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117823767">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,9:127:99:0,113,2860:22	0|1:142,19:161:22:22,0,3281:22	0|0:120,9:129:99:0,187,2942:22
10	117849106	.	G	A	10770.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56346845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56346845" target="_blank">rs56346845</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1197+146C>T;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439649;SAVANT_GENE=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;SAVANT_INFO=-/216.7kb/11/9.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1197+146C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFRA1+c.1197+146C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117849106">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,50:104:99:1934,0,2493:127	0|0:179,0:179:99:0,548,9402:127	1|0:55,49:104:99:2054,0,2479:127
10	117849113	.	T	C	11045.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=410;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56384669;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56384669" target="_blank">rs56384669</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1197+139A>G;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439649;SAVANT_GENE=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;SAVANT_INFO=-/216.7kb/11/9.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1197+139A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFRA1+c.1197+139A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117849113">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,51:107:99:1953,0,2546:127	0|0:190,0:190:99:0,575,9773:127	1|0:57,56:113:99:2126,0,2500:127
10	117849206	.	C	G	10091.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=545;MQ=69.99;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs8192667;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8192667" target="_blank">rs8192667</a>;ExAC.Info.AC=5108;ExAC.Info.AN=126702;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=4809;ExAC.Info.AC_Hom=144;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1197+46G>C;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439649;SAVANT_GENE=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;SAVANT_INFO=-/216.7kb/11/9.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1197+46G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFRA1+c.1197+46G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117849206">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,67:149:99:1732,0,2314:127	0|0:246,0:246:99:0,739,8497:127	1|0:81,69:150:99:1859,0,2318:127
10	117849353	.	T	C	3591.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2072276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072276" target="_blank">rs2072276</a>;ExAC.Info.AC=13056;ExAC.Info.AN=126702;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=11524;ExAC.Info.AC_Hom=758;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr366Ala/c.1096A>G;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439649;SAVANT_GENE=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;SAVANT_INFO=-/216.7kb/11/9.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1096A>G_p.Thr366Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFRA1+c.1096A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117849353">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,300,3358:127	0|1:52,65:117:99:1813,0,1478:127	0|0:98,0:98:99:0,294,3276:127
10	117884950	.	G	A	1418.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=165;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2245020;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2245020" target="_blank">rs2245020</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=70443;ExAC.Info.AN=126696;ExAC.Info.AF=0.556;ExAC.Info.AC_Het=30021;ExAC.Info.AC_Hom=20112;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn184Asn/c.552C>T;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439649;SAVANT_GENE=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;SAVANT_INFO=-/216.7kb/11/9.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.552C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFRA1+c.552C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117884950">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,163,2175:127	0|0:67,0:67:99:0,202,2636:127	0|1:22,22:44:99:728,0,757:127
10	117923225	.	A	G	11661.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4751955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4751955" target="_blank">rs4751955</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.434-38157T>C;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439649;SAVANT_GENE=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;SAVANT_INFO=-/216.7kb/11/9.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.434-38157T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFRA1+c.434-38157T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117923225">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,53:135:99:1504,0,2470:127	0|0:167,0:167:99:0,502,5852:127	1|1:0,79:79:99:2883,237,0:127
10	117923261	.	C	G	34798.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7069930;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7069930" target="_blank">rs7069930</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.434-38193G>C;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439649;SAVANT_GENE=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;SAVANT_INFO=-/216.7kb/11/9.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.434-38193G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFRA1+c.434-38193G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:117923261">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:4990,456,0:127	1|1:0,182:182:99:6215,546,0:127	1|1:0,104:104:99:3639,313,0:127
10	118031376	.	C	A	14761.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2532691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2532691" target="_blank">rs2532691</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.40+126G>T;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439649;SAVANT_GENE=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;SAVANT_INFO=-/216.7kb/11/9.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.40+126G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFRA1+c.40+126G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118031376">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1476,135,0:127	1|1:0,69:69:99:2309,207,0:127	1|1:0,44:44:99:1512,132,0:127
10	118031619	.	G	A	6441.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2577360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2577360" target="_blank">rs2577360</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=78;snpeff.Amino_Acid_Change=c.-78C>T;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355422;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000439649;SAVANT_GENE=GFRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA1" target="_blank">GFRA1</a>;SAVANT_INFO=-/216.7kb/11/9.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-78C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GFRA1+c.-78C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118031619">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1076,105,0:39	1|1:0,34:34:99:1170,102,0:39	1|1:0,13:13:39:418,39,0:39
10	118228763	.	T	C	4702.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7077408;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7077408" target="_blank">rs7077408</a>;ExAC.Info.AC=13727;ExAC.Info.AN=126692;ExAC.Info.AF=0.108;ExAC.Info.AC_Het=11285;ExAC.Info.AC_Hom=1213;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe332Leu/c.994T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369230;SAVANT_GENE=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;SAVANT_INFO=+/50.1kb/12/2.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.994T>C_p.Phe332Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP3+c.994T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118228763">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,13:34:99:361,0,639:127	0/1:33,37:70:99:1072,0,898:127	0/1:21,25:46:99:736,0,597:127
10	118231305	.	A	G	11304.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10510020;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10510020" target="_blank">rs10510020</a>;ExAC.Info.AC=14404;ExAC.Info.AN=126704;ExAC.Info.AF=0.114;ExAC.Info.AC_Het=11890;ExAC.Info.AC_Hom=1257;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys362Lys/c.1086A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369230;SAVANT_GENE=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;SAVANT_INFO=+/50.1kb/12/2.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1086A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP3+c.1086A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118231305">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,50:91:99:1515,0,1026:127	0/1:66,66:132:99:1870,0,1760:127	0/1:57,51:108:99:1343,0,1451:127
10	118231360	.	G	A	29686.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=259;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10736251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10736251" target="_blank">rs10736251</a>;ExAC.Info.AC=124657;ExAC.Info.AN=126704;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=1804;ExAC.Info.AC_Hom=61449;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1141G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1141G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1141G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val381Ile/c.1141G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369230;SAVANT_GENE=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;SAVANT_INFO=+/50.1kb/12/2.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1141G>A_p.Val381Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP3+c.1141G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118231360">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:3602,247,0:127	1|1:0,92:92:99:4129,280,0:127	1|1:0,87:87:99:3902,265,0:127
10	118231363	.	A	G	29592.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=253;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1897519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1897519" target="_blank">rs1897519</a>;ExAC.Info.AC=125384;ExAC.Info.AN=126704;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=1200;ExAC.Info.AC_Hom=62072;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1144A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg382Gly/c.1144A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369230;SAVANT_GENE=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;SAVANT_INFO=+/50.1kb/12/2.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1144A>G_p.Arg382Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP3+c.1144A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118231363">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:3638,250,0:127	1|1:0,89:89:99:4084,277,0:127	1|1:0,85:85:99:3914,265,0:127
10	118231406	.	A	C	6855.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10749217;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10749217" target="_blank">rs10749217</a>;ExAC.Info.AC=101593;ExAC.Info.AN=126686;ExAC.Info.AF=0.802;ExAC.Info.AC_Het=19463;ExAC.Info.AC_Hom=40996;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1172+15A>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173A>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173A>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173A>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369230;SAVANT_GENE=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;SAVANT_INFO=+/50.1kb/12/2.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1172+15A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP3+c.1172+15A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118231406">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,25:60:99:786,0,1376:127	0/1:27,28:55:99:916,0,1080:127	0/1:34,31:65:99:999,0,1291:127
10	118231413	.	C	T	6611.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10885939;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10885939" target="_blank">rs10885939</a>;ExAC.Info.AC=11396;ExAC.Info.AN=126674;ExAC.Info.AF=0.090;ExAC.Info.AC_Het=9956;ExAC.Info.AC_Hom=709;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1172+22C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PLAT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1173C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369230;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369230;SAVANT_GENE=PNLIPRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP3" target="_blank">PNLIPRP3</a>;SAVANT_INFO=+/50.1kb/12/2.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1172+22C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP3+c.1172+22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118231413">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,35:59:99:1101,0,903:127	0/1:27,28:55:99:897,0,1066:127	0/1:30,32:62:99:932,0,1163:127
10	118313265	.	T	C	11583.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Pancreatic_lipase_deficiency|_614338_(1);dbSNP139.ID=rs2915748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2915748" target="_blank">rs2915748</a>;ExAC.Info.AC=111697;ExAC.Info.AN=126702;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=12544;ExAC.Info.AC_Hom=49553;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.486T>C;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=PNLIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIP" target="_blank">PNLIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369221;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn162Asn/c.486T>C;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=PNLIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIP" target="_blank">PNLIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369221;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369221;SAVANT_GENE=PNLIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIP" target="_blank">PNLIP</a>;SAVANT_INFO=+/21.9kb/13/1.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.486T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIP+c.486T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118313265">View</a>	GT:AD:DP:GQ:PL:TP	0/1:66,56:122:99:1571,0,1799:127	0/1:82,60:142:99:1643,0,2363:127	0/1:62,52:114:99:1473,0,1860:127
10	118314826	.	G	A	5174.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Pancreatic_lipase_deficiency|_614338_(1);dbSNP139.ID=rs72825610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72825610" target="_blank">rs72825610</a>;ExAC.Info.AC=4;ExAC.Info.AN=126698;ExAC.Info.AF=3.157e-05;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.691+17G>A;snpeff.Amino_Acid_length=465;snpeff.Gene_Name=PNLIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIP" target="_blank">PNLIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369221;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369221;SAVANT_GENE=PNLIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIP" target="_blank">PNLIP</a>;SAVANT_INFO=+/21.9kb/13/1.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.691+17G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIP+c.691+17G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118314826">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,423,4895:127	0|1:80,86:166:99:2606,0,2180:127	0|0:127,0:127:99:0,385,4425:127
10	118351414	.	A	G	4008.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs11197744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11197744" target="_blank">rs11197744</a>;ExAC.Info.AC=2994;ExAC.Info.AN=126704;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=2883;ExAC.Info.AC_Hom=54;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn61Asp/c.181A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528052;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528052;SAVANT_GENE=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;SAVANT_INFO=+/18.2kb/13/1.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.181A>G_p.Asn61Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP1+c.181A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118351414">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,28:56:99:844,0,730:127	1|0:43,33:76:99:900,0,1179:127	0|0:67,0:67:99:0,201,2314:127
10	118355695	.	A	T	43646.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=675;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2915765;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2915765" target="_blank">rs2915765</a>;ExAC.Info.AC=59180;ExAC.Info.AN=126688;ExAC.Info.AF=0.467;ExAC.Info.AC_Het=29223;ExAC.Info.AC_Hom=14744;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.466-31A>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528052;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528052;SAVANT_GENE=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;SAVANT_INFO=+/18.2kb/13/1.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.466-31A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP1+c.466-31A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118355695">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,194:194:99:6322,582,0:127	1|1:0,252:252:99:8588,757,0:127	1|0:120,109:229:99:2987,0,3356:127
10	118357490	.	C	T	39839.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=506;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2915764;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2915764" target="_blank">rs2915764</a>;ExAC.Info.AC=124495;ExAC.Info.AN=126698;ExAC.Info.AF=0.983;ExAC.Info.AC_Het=1797;ExAC.Info.AC_Hom=61313;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.694+31C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528052;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528052;SAVANT_GENE=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;SAVANT_INFO=+/18.2kb/13/1.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.694+31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP1+c.694+31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118357490">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,182:182:99:6356,547,0:127	1|1:0,191:191:99:6633,574,0:127	1|1:0,133:133:99:4685,399,0:127
10	118359548	.	T	C	7151.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3816355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3816355" target="_blank">rs3816355</a>;ExAC.Info.AC=83903;ExAC.Info.AN=126696;ExAC.Info.AF=0.662;ExAC.Info.AC_Het=26788;ExAC.Info.AC_Hom=28498;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.815-11T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528052;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528052;SAVANT_GENE=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;SAVANT_INFO=+/18.2kb/13/1.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.815-11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP1+c.815-11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118359548">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,30:59:99:855,0,776:127	0/1:42,42:84:99:1221,0,1147:127	0/1:27,27:54:99:873,0,715:127
10	118363642	.	T	C	22992.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3010501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3010501" target="_blank">rs3010501</a>;ExAC.Info.AC=90907;ExAC.Info.AN=126702;ExAC.Info.AF=0.717;ExAC.Info.AC_Het=24892;ExAC.Info.AC_Hom=32950;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser388Ser/c.1164T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528052;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528052;SAVANT_GENE=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;SAVANT_INFO=+/18.2kb/13/1.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1164T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP1+c.1164T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118363642">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2777,240,0:127	1|1:0,103:103:99:3634,309,0:127	1|1:0,87:87:99:3305,262,0:127
10	118364967	.	G	C	3490.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=393;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2305204;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2305204" target="_blank">rs2305204</a>;ExAC.Info.AC=11885;ExAC.Info.AN=126704;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=9536;ExAC.Info.AC_Hom=1174;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu414Asp/c.1242G>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528052;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528052;SAVANT_GENE=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;SAVANT_INFO=+/18.2kb/13/1.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1242G>C_p.Glu414Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP1+c.1242G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118364967">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,378,4272:127	0|0:144,0:144:99:0,432,5025:127	0|1:63,60:123:99:1764,0,1934:127
10	118368606	.	T	C	13594.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1049125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1049125" target="_blank">rs1049125</a>;ExAC.Info.AC=22166;ExAC.Info.AN=126702;ExAC.Info.AF=0.175;ExAC.Info.AC_Het=17863;ExAC.Info.AC_Hom=2141;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu461Pro/c.1382T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528052;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528052;SAVANT_GENE=PNLIPRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP1" target="_blank">PNLIPRP1</a>;SAVANT_INFO=+/18.2kb/13/1.5kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1382T>C_p.Leu461Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP1+c.1382T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118368606">View</a>	GT:AD:DP:GQ:PL:TP	0/1:60,58:118:99:1481,0,1653:127	0/1:74,98:172:99:2611,0,2059:127	0/1:52,52:104:99:1313,0,1478:127
10	118380345	.	C	T	2565.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12415178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12415178" target="_blank">rs12415178</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12415178" target="_blank">rs12415178</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118380345">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,11:24:99:309,0,378:127	0/1:18,18:36:99:536,0,520:127	0/1:14,9:23:99:250,0,431:127
10	118380387	.	A	G	4437.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12412456;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12412456" target="_blank">rs12412456</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12412456" target="_blank">rs12412456</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118380387">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,15:33:99:493,0,470:127	0/1:22,23:45:99:829,0,551:127	0/1:18,15:33:99:459,0,484:127
10	118380511	.	A	G	11156.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3010502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3010502" target="_blank">rs3010502</a>;ExAC.Info.AC=124594;ExAC.Info.AN=124612;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=58272;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-1+21A>G;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537242;SAVANT_GENE=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;SAVANT_INFO=+/24.2kb/14/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-307A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP2+c.-307A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118380511">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1295,120,0:110	1|1:0,52:52:99:1874,156,0:110	1|1:0,37:37:99:1229,111,0:110
10	118383382	.	C	T	6598.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12256398;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12256398" target="_blank">rs12256398</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.57-81C>T;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537242;SAVANT_GENE=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;SAVANT_INFO=+/24.2kb/14/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.57-81C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP2+c.57-81C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118383382">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,26:57:99:693,0,1010:127	0/1:42,42:84:99:1151,0,1237:127	0/1:28,30:58:99:945,0,921:127
10	118383463	.	A	AG	32090.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs56189579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56189579" target="_blank">rs56189579</a>;ExAC.Info.AC=124845;ExAC.Info.AN=124848;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=62356;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.58_59insG;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=gtc/Ggtc;snpeff.Amino_Acid_Change=p.Val20_Cys21fs/c.58_59insG;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000537242;SAVANT_GENE=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;SAVANT_INFO=+/24.2kb/14/1.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.58dupG;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP2+c.58dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118383463">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3986,322,0:127	1|1:0,123:123:99:4553,372,0:127	1|1:0,110:110:99:4111,336,0:127
10	118386325	.	C	A	3742.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9787637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9787637" target="_blank">rs9787637</a>;ExAC.Info.AC=39223;ExAC.Info.AN=123570;ExAC.Info.AF=0.317;ExAC.Info.AC_Het=14504;ExAC.Info.AC_Hom=4022;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.331-50C>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537242;SAVANT_GENE=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;SAVANT_INFO=+/24.2kb/14/1.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.331-50C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP2+c.331-50C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118386325">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,17:47:99:413,0,918:127	0/1:32,19:51:99:577,0,1002:127	0/1:14,14:28:99:353,0,422:127
10	118387282	.	A	G	4660.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11544712;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11544712" target="_blank">rs11544712</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=26317;ExAC.Info.AN=100842;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=5360;ExAC.Info.AC_Hom=1272;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu158Leu/c.474A>G;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537242;SAVANT_GENE=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;SAVANT_INFO=+/24.2kb/14/1.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.474A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP2+c.474A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118387282">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,31:64:99:900,0,902:127	0/1:38,21:59:99:579,0,1041:127	0/1:29,14:43:99:280,0,898:127
10	118397884	.	A	G	2040.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4751995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4751995" target="_blank">rs4751995</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=49720;ExAC.Info.AN=114480;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=9948;ExAC.Info.AC_Hom=4840;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1071-3A>G;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071A>G;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537242;SAVANT_GENE=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;SAVANT_INFO=+/24.2kb/14/1.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1071-3A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP2+c.1071-3A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118397884">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,159,2294:127	0|0:82,0:82:99:0,253,3649:127	0|1:27,26:53:99:1039,0,1007:127
10	118397894	.	A	G	1962.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4751996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4751996" target="_blank">rs4751996</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=49662;ExAC.Info.AN=115070;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=11240;ExAC.Info.AC_Hom=5476;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Gta;snpeff.Amino_Acid_Change=p.Ile360Val/c.1078A>G;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537242;SAVANT_GENE=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;SAVANT_INFO=+/24.2kb/14/1.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1078A>G_p.Ile360Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP2+c.1078A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118397894">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,159,2294:127	0|0:87,0:87:99:0,265,3819:127	0|1:26,23:49:99:1000,0,1008:127
10	118397971	.	A	G	1800.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10885997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10885997" target="_blank">rs10885997</a>;ExAC.Info.AC=35381;ExAC.Info.AN=113814;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=9915;ExAC.Info.AC_Hom=3037;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser385Ser/c.1155A>G;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537242;SAVANT_GENE=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;SAVANT_INFO=+/24.2kb/14/1.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1155A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP2+c.1155A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118397971">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1733:127	0|0:87,0:87:99:0,262,3054:127	0|1:24,31:55:99:919,0,649:127
10	118398046	.	C	A	1022.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7910135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7910135" target="_blank">rs7910135</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1175+55C>A;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537242;SAVANT_GENE=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;SAVANT_INFO=+/24.2kb/14/1.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1175+55C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP2+c.1175+55C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118398046">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,928:75	0|0:54,0:54:99:0,162,2019:75	0|1:5,17:22:99:530,0,107:75
10	118404620	.	A	G	3658.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=461;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2301179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2301179" target="_blank">rs2301179</a>;ExAC.Info.AC=61098;ExAC.Info.AN=124842;ExAC.Info.AF=0.489;ExAC.Info.AC_Het=29950;ExAC.Info.AC_Hom=14932;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=12;snpeff.Amino_Acid_Change=c.*12A>G;snpeff.Amino_Acid_length=468;snpeff.Gene_Name=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537242;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537242;SAVANT_GENE=PNLIPRP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNLIPRP2" target="_blank">PNLIPRP2</a>;SAVANT_INFO=+/24.2kb/14/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*12A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNLIPRP2+c.*12A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118404620">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,399,4311:127	0|0:194,0:194:99:0,583,6559:127	0|1:62,72:134:99:1848,0,1945:127
10	118404700	.	G	A	2474.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2301178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2301178" target="_blank">rs2301178</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2301178" target="_blank">rs2301178</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118404700">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,297,3398:127	0|0:127,0:127:99:0,381,4517:127	0|1:51,46:97:99:1256,0,1449:127
10	118436068	.	G	T	10219.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2166634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2166634" target="_blank">rs2166634</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1287-55C>A;snpeff.Amino_Acid_length=675;snpeff.Gene_Name=HSPA12A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA12A" target="_blank">HSPA12A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369209;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369209;SAVANT_GENE=HSPA12A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPA12A" target="_blank">HSPA12A</a>;SAVANT_INFO=-/71.4kb/12/5.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1287-55C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSPA12A+c.1287-55C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118436068">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1208,102,0:98	1|1:0,45:45:99:1672,135,0:98	1|1:0,33:33:99:1231,99,0:98
10	118609581	.	A	G	2271.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72831655;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72831655" target="_blank">rs72831655</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-539I5.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-539I51" target="_blank">RP11-539I51</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+139A>G;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=ENO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-539I51" target="_blank">RP11-539I51</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341276;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341276;SAVANT_GENE=ENO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO4" target="_blank">ENO4</a>;SAVANT_INFO=+/33.0kb/16/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.168+139A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENO4+c.168+139A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118609581">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,17:38:99:383,0,576:125	0|0:55,1:56:99:0,126,1698:125	1|0:24,17:41:99:471,0,638:125
10	118616110	.	C	T	12857.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7083543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7083543" target="_blank">rs7083543</a>;ExAC.Info.AC=5320;ExAC.Info.AN=23742;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=3026;ExAC.Info.AC_Hom=657;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala135Ala/c.405C>T;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=ENO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO4" target="_blank">ENO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341276;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341276;SAVANT_GENE=ENO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO4" target="_blank">ENO4</a>;SAVANT_INFO=+/33.0kb/16/2.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.405C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENO4+c.405C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118616110">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,48:92:99:1468,0,1174:127	0|0:122,0:122:99:0,367,4076:127	1|1:0,109:109:99:3951,328,0:127
10	118620319	.	A	G	204.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72831665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72831665" target="_blank">rs72831665</a>;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile218Val/c.652A>G;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=ENO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO4" target="_blank">ENO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341276;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341276;SAVANT_GENE=ENO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO4" target="_blank">ENO4</a>;SAVANT_INFO=+/33.0kb/16/2.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.652A>G_p.Ile218Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENO4+c.652A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118620319">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1105:101	0|0:39,0:39:99:0,117,1464:101	0|1:25,5:30:99:121,0,738:101
10	118620459	.	A	C	21518.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=540;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11197835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11197835" target="_blank">rs11197835</a>;ExAC.Info.AC=8529;ExAC.Info.AN=22084;ExAC.Info.AF=0.386;ExAC.Info.AC_Het=4206;ExAC.Info.AC_Hom=1736;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctC;snpeff.Amino_Acid_Change=p.Leu264Leu/c.792A>C;snpeff.Amino_Acid_length=628;snpeff.Gene_Name=ENO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO4" target="_blank">ENO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341276;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341276;SAVANT_GENE=ENO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO4" target="_blank">ENO4</a>;SAVANT_INFO=+/33.0kb/16/2.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.792A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENO4+c.792A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118620459">View</a>	GT:AD:DP:GQ:PL:TP	0|1:105,84:189:99:2451,0,2802:127	1|1:0,190:190:99:6818,571,0:127	0|0:161,0:161:99:0,484,5423:127
10	118643670	.	G	A	22645.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2257791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2257791" target="_blank">rs2257791</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ENO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO4" target="_blank">ENO4</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO4" target="_blank">ENO4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ENO4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118643670">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3306,286,0:127	1|1:0,146:146:99:4810,438,0:127	1|0:68,42:110:99:1249,0,2019:127
10	118667346	.	A	C	42105.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=610;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2531690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2531690" target="_blank">rs2531690</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ENO4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO4" target="_blank">ENO4</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1360-1088T>G;snpeff.Amino_Acid_length=649;snpeff.Gene_Name=KIAA1598;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO4" target="_blank">ENO4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392903;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355371;SAVANT_GENE=KIAA1598;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1598" target="_blank">KIAA1598</a>;SAVANT_INFO=-/120.8kb/17/3.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1360-1088T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIAA1598+c.1360-1088T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118667346">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,177:177:99:6199,532,0:127	1|1:0,241:241:99:8297,724,0:127	1|0:99,93:192:99:2711,0,2871:127
10	118897607	.	CAA	C	977.98	PASS	InheritancePattern=Normal;AC=2;AF=0.500;AN=4;DP=53;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=./1;OMIM_phenotypes.name=Microphthalmia|_syndromic_11|_614402_(3);snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=VAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAX1" target="_blank">VAX1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369206;SAVANT_GENE=VAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAX1" target="_blank">VAX1</a>;SAVANT_INFO=-/4.3kb/3/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-42_-41delTT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAX1+c.-42_-41delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118897607">View</a>	GT:AD:DP:GQ:PL	0/1:9,5:21:22:125,0,300	./1:4,6:19:62:231,107,243	./0:7,1:13:76:101,76,259
10	118897607	.	CAA	CA	977.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.500;AN=4;DP=53;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./1;OMIM_phenotypes.name=Microphthalmia|_syndromic_11|_614402_(3);snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=VAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAX1" target="_blank">VAX1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369206;SAVANT_GENE=VAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAX1" target="_blank">VAX1</a>;SAVANT_INFO=-/4.3kb/3/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-41delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAX1+c.-41delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118897607">View</a>	GT:AD:DP:GQ:PL	./0:9,7:21:22:125,22,195	./1:4,9:19:62:231,62,135	0/1:7,5:13:76:101,0,115
10	118897630	.	GGC	G	271.6	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=38;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Microphthalmia|_syndromic_11|_614402_(3);dbSNP139.ID=rs71677026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71677026" target="_blank">rs71677026</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=VAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAX1" target="_blank">VAX1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369206;SAVANT_GENE=VAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAX1" target="_blank">VAX1</a>;SAVANT_INFO=-/4.3kb/3/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-65_-64delGC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAX1+c.-65_-64delGC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118897630">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,6:15:66:66,0,176:4	0/1:9,6:15:75:75,0,210:4	0/1:6,2:8:3:3,0,148:4
10	118897631	.	GC	G	1102.51	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=37;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Microphthalmia|_syndromic_11|_614402_(3);dbSNP139.ID=rs56950787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56950787" target="_blank">rs56950787</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=VAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAX1" target="_blank">VAX1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369206;SAVANT_GENE=VAX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VAX1" target="_blank">VAX1</a>;SAVANT_INFO=-/4.3kb/3/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-65delG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VAX1+c.-65delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118897631">View</a>	GT:AD:DP:GQ:PL:TP	0/1:6,8:14:66:176,0,66:6	0/1:6,9:15:78:202,0,78:6	0/1:2,6:8:6:126,0,6:6
10	118957027	.	A	G	6031.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs67346047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67346047" target="_blank">rs67346047</a>;ExAC.Info.AC=11068;ExAC.Info.AN=126704;ExAC.Info.AF=0.087;ExAC.Info.AC_Het=9833;ExAC.Info.AC_Hom=614;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28A>G;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=KCNK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK18" target="_blank">KCNK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334549;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg10Gly/c.28A>G;snpeff.Amino_Acid_length=384;snpeff.Gene_Name=KCNK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK18" target="_blank">KCNK18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334549;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334549;SAVANT_GENE=KCNK18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK18" target="_blank">KCNK18</a>;SAVANT_INFO=+/12.8kb/3/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.28A>G_p.Arg10Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNK18+c.28A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:118957027">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,24:56:99:649,0,985:127	0|0:73,0:73:99:0,220,2783:127	1|1:0,55:55:99:1954,165,0:127
10	119014931	.	C	T	19893.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs363420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=363420" target="_blank">rs363420</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.790+54C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298472;SAVANT_GENE=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;SAVANT_INFO=+/38.3kb/16/3.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.790+54C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC18A2+c.790+54C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:119014931">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,43:91:99:1595,0,2031:127	1|1:0,115:115:99:5078,349,0:127	0|1:50,46:96:99:1737,0,2421:127
10	119014948	.	C	A	19714.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs363343;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=363343" target="_blank">rs363343</a>;ExAC.Info.AC=93902;ExAC.Info.AN=126698;ExAC.Info.AF=0.741;ExAC.Info.AC_Het=22398;ExAC.Info.AC_Hom=35587;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.791-42C>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298472;SAVANT_GENE=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;SAVANT_INFO=+/38.3kb/16/3.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.791-42C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC18A2+c.791-42C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:119014948">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,40:83:99:1570,0,2074:127	1|1:0,109:109:99:4878,334,0:127	0|1:50,53:103:99:1968,0,2400:127
10	119026566	.	T	C	13313.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs363227;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=363227" target="_blank">rs363227</a>;ExAC.Info.AC=103857;ExAC.Info.AN=126702;ExAC.Info.AF=0.820;ExAC.Info.AC_Het=17655;ExAC.Info.AC_Hom=43099;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1122+20T>C;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123T>C;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298472;SAVANT_GENE=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;SAVANT_INFO=+/38.3kb/16/3.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1122+20T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC18A2+c.1122+20T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:119026566">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,55:96:99:1540,0,1003:127	1|1:0,105:105:99:3529,315,0:127	0|1:45,46:91:99:1296,0,1277:127
10	119029744	.	G	A	21043.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=435;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs363272;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=363272" target="_blank">rs363272</a>;ExAC.Info.AC=103750;ExAC.Info.AN=126694;ExAC.Info.AF=0.819;ExAC.Info.AC_Het=17677;ExAC.Info.AC_Hom=43024;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1306+43G>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal_vesicle];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1307G>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal_vesicle];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1307G>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298472;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298472;SAVANT_GENE=SLC18A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC18A2" target="_blank">SLC18A2</a>;SAVANT_INFO=+/38.3kb/16/3.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1306+43G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC18A2+c.1306+43G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:119029744">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,61:135:99:1716,0,2042:127	1|1:0,169:169:99:5951,508,0:127	0|1:63,68:131:99:1995,0,1916:127
10	119042761	.	C	T	38772.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=522;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs363293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=363293" target="_blank">rs363293</a>;ExAC.Info.AC=124692;ExAC.Info.AN=126602;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1622;ExAC.Info.AC_Hom=60201;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=18;snpeff.Amino_Acid_Change=c.*18G>A;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=PDZD8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD8" target="_blank">PDZD8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334464;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334464;SAVANT_GENE=PDZD8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD8" target="_blank">PDZD8</a>;SAVANT_INFO=-/95.0kb/5/6.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*18G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD8+c.*18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:119042761">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,149:149:99:4894,448,0:127	1|1:0,176:176:99:5765,529,0:127	1|1:0,197:197:99:6498,592,0:127
10	119133968	.	G	C	7707.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3814230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814230" target="_blank">rs3814230</a>;ExAC.Info.AC=27452;ExAC.Info.AN=126702;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=20465;ExAC.Info.AC_Hom=3398;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcG;snpeff.Amino_Acid_Change=p.Ser257Ser/c.771C>G;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=PDZD8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD8" target="_blank">PDZD8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334464;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334464;SAVANT_GENE=PDZD8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD8" target="_blank">PDZD8</a>;SAVANT_INFO=-/95.0kb/5/6.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.771C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD8+c.771C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:119133968">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,46:104:99:1117,0,1551:127	0|0:135,0:135:99:0,406,4732:127	1|0:60,45:105:99:1199,0,1679:127
10	119134058	.	T	C	6879.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3814229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814229" target="_blank">rs3814229</a>;ExAC.Info.AC=26045;ExAC.Info.AN=126376;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=16938;ExAC.Info.AC_Hom=2612;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly227Gly/c.681A>G;snpeff.Amino_Acid_length=1154;snpeff.Gene_Name=PDZD8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD8" target="_blank">PDZD8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334464;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334464;SAVANT_GENE=PDZD8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD8" target="_blank">PDZD8</a>;SAVANT_INFO=-/95.0kb/5/6.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.681A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDZD8+c.681A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:119134058">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,48:102:99:1204,0,1346:127	0|0:112,0:112:99:0,336,3741:127	1|0:60,39:99:99:1009,0,1718:127
10	119302654	.	A	C	209.31	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=10;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Schizencephaly|_269160_(3)|Schizencephaly|_269160_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.574+1163T>G;snpeff.Gene_Name=EMX2OS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMX2OS" target="_blank">EMX2OS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000551288;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=125;snpeff.Amino_Acid_Change=c.-125A>C;snpeff.Amino_Acid_length=252;snpeff.Gene_Name=EMX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMX2OS" target="_blank">EMX2OS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000553456;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369201;SAVANT_GENE=EMX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMX2" target="_blank">EMX2</a>;SAVANT_INFO=+/7.5kb/3/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-125A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EMX2+c.-125A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:119302654">View</a>	GT:AD:DP:GQ:PL:TP	0/1:1,2:3:31:42,0,31:7	0/1:4,1:5:7:7,0,186:7	0/1:0,2:2:60:67,0,60:7
10	119302660	.	A	C	171.21	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=13;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Schizencephaly|_269160_(3)|Schizencephaly|_269160_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.574+1157T>G;snpeff.Gene_Name=EMX2OS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMX2OS" target="_blank">EMX2OS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000551288;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=119;snpeff.Amino_Acid_Change=c.-119A>C;snpeff.Amino_Acid_length=252;snpeff.Gene_Name=EMX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMX2OS" target="_blank">EMX2OS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000553456;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369201;SAVANT_GENE=EMX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMX2" target="_blank">EMX2</a>;SAVANT_INFO=+/7.5kb/3/3.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-119A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EMX2+c.-119A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:119302660">View</a>	GT:AD:DP:GQ:PL:TP	0/1:2,1:3:39:39,0,56:5	0/1:5,0:5:4:4,0,221:5	0/1:4,1:5:61:61,0,136:5
10	119307524	.	T	A	21997.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Schizencephaly|_269160_(3)|Schizencephaly|_269160_(3);dbSNP139.ID=rs2240776;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2240776" target="_blank">rs2240776</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.592-52T>A;snpeff.Amino_Acid_length=252;snpeff.Gene_Name=EMX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMX2" target="_blank">EMX2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000553456;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592T>A;snpeff.Amino_Acid_length=252;snpeff.Gene_Name=EMX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMX2" target="_blank">EMX2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000553456;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592T>A;snpeff.Amino_Acid_length=252;snpeff.Gene_Name=EMX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMX2" target="_blank">EMX2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000553456;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369201;SAVANT_GENE=EMX2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMX2" target="_blank">EMX2</a>;SAVANT_INFO=+/7.5kb/3/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.592-52T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EMX2+c.592-52T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:119307524">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2908,250,0:127	1|1:0,107:107:99:3980,322,0:127	1|1:0,70:70:99:2571,210,0:127
10	119768551	.	C	T	54267.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=696;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7923321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7923321" target="_blank">rs7923321</a>;ExAC.Info.AC=113582;ExAC.Info.AN=126704;ExAC.Info.AF=0.896;ExAC.Info.AC_Het=10140;ExAC.Info.AC_Hom=51690;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro519Pro/c.1557G>A;snpeff.Amino_Acid_length=532;snpeff.Gene_Name=RAB11FIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB11FIP2" target="_blank">RAB11FIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369199;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355624;SAVANT_GENE=RAB11FIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB11FIP2" target="_blank">RAB11FIP2</a>;SAVANT_INFO=-/41.7kb/5/6.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1497G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAB11FIP2+c.1497G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:119768551">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,197:197:99:6466,592,0:127	1|1:0,288:288:99:9242,865,0:127	1|1:0,211:211:99:7028,634,0:127
10	120070427	.	G	T	2387.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=73;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs4751651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4751651" target="_blank">rs4751651</a>;ExAC.Info.AC=59915;ExAC.Info.AN=126698;ExAC.Info.AF=0.473;ExAC.Info.AC_Het=30456;ExAC.Info.AC_Hom=14657;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.651-7C>A;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=FAM204A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM204A" target="_blank">FAM204A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369183;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369183;SAVANT_GENE=FAM204A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM204A" target="_blank">FAM204A</a>;SAVANT_INFO=-/36.4kb/9/5.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.651-7C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM204A+c.651-7C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120070427">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,16:16:48:560,48,0:48	1|0:17,10:27:99:233,0,488:48	1|0:19,11:30:99:251,0,594:48
10	120070843	.	G	GA	5067.89	PASS	InheritancePattern=Normal;AC=5;AF=1.00;AN=5;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1/1;NA12892_GT=1/1;NA12891_GT=./1;dbSNP139.ID=rs34120011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34120011" target="_blank">rs34120011</a>;ExAC.Info.AC=92800;ExAC.Info.AN=126248;ExAC.Info.AF=0.735;ExAC.Info.AC_Het=23698;ExAC.Info.AC_Hom=30627;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.544-18_544-19insT;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=FAM204A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM204A" target="_blank">FAM204A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369183;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369183;SAVANT_GENE=FAM204A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM204A" target="_blank">FAM204A</a>;SAVANT_INFO=-/36.4kb/9/5.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.544-19dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM204A+c.544-19dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120070843">View</a>	GT:AD:DP:GQ:PL	1/1:2,27:29:33:691,33,0	./1:1,12:33:99:762,521,763	1/1:1,27:28:75:724,75,0
10	120070843	.	G	GGA	5067.89	PASS	InheritancePattern=unknown;AC=1;AF=1.00;AN=1;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=./.;NA12891_GT=./1;dbSNP139.ID=rs34120011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34120011" target="_blank">rs34120011</a>;ExAC.Info.AC=28014;ExAC.Info.AN=126248;ExAC.Info.AF=0.222;ExAC.Info.AC_Het=23698;ExAC.Info.AC_Hom=30627;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.544-18_544-19insTC;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=FAM204A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM204A" target="_blank">FAM204A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369183;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369183;SAVANT_GENE=FAM204A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM204A" target="_blank">FAM204A</a>;SAVANT_INFO=-/36.4kb/9/5.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.544-19_544-18insTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM204A+c.544-19_544-18insTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120070843">View</a>	GT:AD:DP:GQ:PL	./.:2,0:29:33:691,743,1042	./1:1,20:33:99:762,291,352	./.:1,0:28:75:724,806,1120
10	120095037	.	GA	G	4079.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34302018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34302018" target="_blank">rs34302018</a>;ExAC.Info.AC=28695;ExAC.Info.AN=126626;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=21254;ExAC.Info.AC_Hom=3627;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.322+28delT;snpeff.Amino_Acid_length=233;snpeff.Gene_Name=FAM204A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM204A" target="_blank">FAM204A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369183;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369183;SAVANT_GENE=FAM204A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM204A" target="_blank">FAM204A</a>;SAVANT_INFO=-/36.4kb/9/5.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.322+28delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM204A+c.322+28delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120095037">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,278,3679:127	0|1:64,60:124:99:2063,0,2189:127	0|0:122,0:122:99:0,367,4909:127
10	120353910	.	T	C	17181.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1613448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1613448" target="_blank">rs1613448</a>;ExAC.Info.AC=124763;ExAC.Info.AN=125502;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=636;ExAC.Info.AC_Hom=59641;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.847T>C;snpeff.Amino_Acid_length=370;snpeff.Gene_Name=PRLHR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRLHR" target="_blank">PRLHR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369169;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile283Val/c.847A>G;snpeff.Amino_Acid_length=370;snpeff.Gene_Name=PRLHR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRLHR" target="_blank">PRLHR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369169;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000239032;SAVANT_GENE=PRLHR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRLHR" target="_blank">PRLHR</a>;SAVANT_INFO=-/2.2kb/2/2.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.847A>G_p.Ile283Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRLHR+c.847A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120353910">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:2042,165,0:127	1|1:0,63:63:99:2316,189,0:127	1|1:0,45:45:99:1649,135,0:127
10	120460715	.	G	T	11806.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2274314;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274314" target="_blank">rs2274314</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.796+103C>A;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=CACUL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CACUL1" target="_blank">CACUL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369151;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369151;SAVANT_GENE=C10orf46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf46" target="_blank">C10orf46</a>;SAVANT_INFO=-/74.3kb/9/6.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.796+103C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf46+c.796+103C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120460715">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1323,111,0:127	1|1:0,52:52:99:1839,156,0:127	1|1:0,44:44:99:1526,132,0:127
10	120692236	.	C	T	39726.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=688;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1831018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1831018" target="_blank">rs1831018</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.572G>A;snpeff.Gene_Name=LDHAP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHAP5" target="_blank">LDHAP5</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394996;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHAP5" target="_blank">LDHAP5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDHAP5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120692236">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,212:212:99:7264,637,0:127	1|0:138,104:242:99:2733,0,3928:127	1|1:0,234:234:99:7704,702,0:127
10	120820224	.	C	A	14720.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3740555;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740555" target="_blank">rs3740555</a>;ExAC.Info.AC=117513;ExAC.Info.AN=126592;ExAC.Info.AF=0.928;ExAC.Info.AC_Het=6518;ExAC.Info.AC_Hom=54883;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1326+34G>T;snpeff.Amino_Acid_length=1382;snpeff.Gene_Name=EIF3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3A" target="_blank">EIF3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369144;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PCI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327C>A;snpeff.Amino_Acid_length=1382;snpeff.Gene_Name=EIF3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3A" target="_blank">EIF3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369144;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PCI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327C>A;snpeff.Amino_Acid_length=1382;snpeff.Gene_Name=EIF3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3A" target="_blank">EIF3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369144;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PCI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327C>A;snpeff.Amino_Acid_length=1382;snpeff.Gene_Name=EIF3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3A" target="_blank">EIF3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369144;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PCI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327C>A;snpeff.Amino_Acid_length=1382;snpeff.Gene_Name=EIF3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3A" target="_blank">EIF3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369144;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PCI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1327C>A;snpeff.Amino_Acid_length=1382;snpeff.Gene_Name=EIF3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3A" target="_blank">EIF3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369144;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369144;SAVANT_GENE=EIF3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3A" target="_blank">EIF3A</a>;SAVANT_INFO=-/46.0kb/22/5.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1326+34G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF3A+c.1326+34G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120820224">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1618,138,0:127	1|1:0,64:64:99:2351,192,0:127	1|1:0,65:65:99:2457,196,0:127
10	120828969	.	A	G	10872.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7908387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7908387" target="_blank">rs7908387</a>;ExAC.Info.AC=116988;ExAC.Info.AN=126680;ExAC.Info.AF=0.923;ExAC.Info.AC_Het=6464;ExAC.Info.AC_Hom=55008;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp313Asp/c.939T>C;snpeff.Amino_Acid_length=1382;snpeff.Gene_Name=EIF3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3A" target="_blank">EIF3A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369144;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369144;SAVANT_GENE=EIF3A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3A" target="_blank">EIF3A</a>;SAVANT_INFO=-/46.0kb/22/5.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.939T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF3A+c.939T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120828969">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1509,129,0:127	1|1:0,54:54:99:1869,162,0:127	1|1:0,47:47:99:1672,141,0:127
10	120883117	.	CTT	C	1691.29	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=147;MQ=69.71;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.694+37_694+38delTT;snpeff.Amino_Acid_length=357;snpeff.Gene_Name=FAM45A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM45A" target="_blank">FAM45A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361432;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000361432;SAVANT_GENE=FAM45A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM45A" target="_blank">FAM45A</a>;SAVANT_INFO=+/33.1kb/9/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.694+53_694+54delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM45A+c.694+53_694+54delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120883117">View</a>	GT:AD:DP:GQ:PL	0/1:29,10:45:61:139,0,993	0/1:26,26:65:99:443,0,1097	0/1:15,12:37:30:214,0,733
10	120896027	.	G	A	31218.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=383;MQ=68.91;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11198799;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11198799" target="_blank">rs11198799</a>;ExAC.Info.AC=122029;ExAC.Info.AN=126640;ExAC.Info.AF=0.964;ExAC.Info.AC_Het=3812;ExAC.Info.AC_Hom=58921;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro314Pro/c.942G>A;snpeff.Amino_Acid_length=357;snpeff.Gene_Name=FAM45A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM45A" target="_blank">FAM45A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361432;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361432;SAVANT_GENE=FAM45A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM45A" target="_blank">FAM45A</a>;SAVANT_INFO=+/33.1kb/9/1.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.942G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM45A+c.942G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120896027">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:3979,355,0:127	1|1:0,148:148:99:4951,444,0:127	1|1:0,117:117:99:4063,351,0:127
10	120896194	.	A	C	861.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=40;MQ=66.61;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs41284414;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41284414" target="_blank">rs41284414</a>;ExAC.Info.AC=1527;ExAC.Info.AN=118574;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=840;ExAC.Info.AC_Hom=13;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=35;snpeff.Amino_Acid_Change=c.*35A>C;snpeff.Amino_Acid_length=357;snpeff.Gene_Name=FAM45A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM45A" target="_blank">FAM45A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361432;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361432;SAVANT_GENE=FAM45A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM45A" target="_blank">FAM45A</a>;SAVANT_INFO=+/33.1kb/9/1.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*35A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM45A+c.*35A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120896194">View</a>	GT:AD:DP:GQ:PL:TP	0|1:6,5:11:99:169,0,188:48	1|0:6,7:13:99:258,0,192:48	0|0:16,0:16:48:0,48,611:48
10	120914692	.	G	A	22040.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=582;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs17668734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17668734" target="_blank">rs17668734</a>;ExAC.Info.AC=41398;ExAC.Info.AN=126700;ExAC.Info.AF=0.327;ExAC.Info.AC_Het=27021;ExAC.Info.AC_Hom=7176;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.617-3C>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617C>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355697;SAVANT_GENE=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;SAVANT_INFO=-/24.8kb/14/1.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.617-3C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFXN4+c.617-3C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120914692">View</a>	GT:AD:DP:GQ:PL:TP	0|1:103,85:188:99:2119,0,2798:127	1|1:0,230:230:99:7487,690,0:127	0|0:164,0:164:99:0,493,5842:127
10	120917269	.	A	T	22490.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2420494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2420494" target="_blank">rs2420494</a>;ExAC.Info.AC=126135;ExAC.Info.AN=126700;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=536;ExAC.Info.AC_Hom=62687;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.472-24T>A;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355697;SAVANT_GENE=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;SAVANT_INFO=-/24.8kb/14/1.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.472-24T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFXN4+c.472-24T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120917269">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2813,244,0:127	1|1:0,105:105:99:3840,316,0:127	1|1:0,88:88:99:3180,265,0:127
10	120917445	.	G	A	15837.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=766;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2275111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275111" target="_blank">rs2275111</a>;ExAC.Info.AC=62903;ExAC.Info.AN=126704;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=30988;ExAC.Info.AC_Hom=15948;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.415-6C>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.415G>A;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.415G>A;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.415C>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355697;SAVANT_GENE=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;SAVANT_INFO=-/24.8kb/14/1.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.415-6C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFXN4+c.415-6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120917445">View</a>	GT:AD:DP:GQ:PL:TP	1|0:118,131:249:99:3794,0,3312:127	0|0:291,1:292:99:0,840,10223:127	1|0:119,106:225:99:3088,0,3472:127
10	120917616	.	G	A	14760.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=432;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2275112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275112" target="_blank">rs2275112</a>;ExAC.Info.AC=42236;ExAC.Info.AN=126704;ExAC.Info.AF=0.333;ExAC.Info.AC_Het=27180;ExAC.Info.AC_Hom=7490;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.361-42C>T;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.361G>A;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.361G>A;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.361G>A;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355697;SAVANT_GENE=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;SAVANT_INFO=-/24.8kb/14/1.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.361-42C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFXN4+c.361-42C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120917616">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,68:139:99:1846,0,1968:127	1|1:0,136:136:99:4958,409,0:127	0|0:157,0:157:99:0,472,5536:127
10	120919246	.	T	C	24866.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2181118;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2181118" target="_blank">rs2181118</a>;ExAC.Info.AC=126073;ExAC.Info.AN=126704;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=593;ExAC.Info.AC_Hom=62737;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.354T>C;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.354T>C;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.354T>C;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala118Ala/c.354A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355697;SAVANT_GENE=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;SAVANT_INFO=-/24.8kb/14/1.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.354A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFXN4+c.354A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120919246">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:3009,264,0:127	1|1:0,109:109:99:3686,327,0:127	1|1:0,98:98:99:3384,294,0:127
10	120922017	.	T	C	13507.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12413842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12413842" target="_blank">rs12413842</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.178-91A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355697;SAVANT_GENE=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;SAVANT_INFO=-/24.8kb/14/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.178-91A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFXN4+c.178-91A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120922017">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,55:123:99:1458,0,1771:127	1|1:1,130:131:99:4134,354,0:127	0|0:121,0:121:99:0,364,4164:127
10	120924874	.	G	C	17163.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs933092;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=933092" target="_blank">rs933092</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+175C>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355697;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355697;SAVANT_GENE=SFXN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SFXN4" target="_blank">SFXN4</a>;SAVANT_INFO=-/24.8kb/14/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.111+175C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SFXN4+c.111+175C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120924874">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1885,165,0:127	1|1:0,66:66:99:2400,198,0:127	1|1:0,65:65:99:2196,195,0:127
10	120967376	.	C	T	950.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2230347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230347" target="_blank">rs2230347</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=54;snpeff.Amino_Acid_Change=c.-54C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392870;SAVANT_GENE=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;SAVANT_INFO=+/248.0kb/16/2.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-54C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRK5+c.-54C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:120967376">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,1096:86	0|0:45,0:45:99:0,135,1693:86	0|1:12,16:28:99:494,0,318:86
10	121093160	.	A	C	5443.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10886461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10886461" target="_blank">rs10886461</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.148+7037A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392870;SAVANT_GENE=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;SAVANT_INFO=+/248.0kb/16/2.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.148+7037A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRK5+c.148+7037A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121093160">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:683,57,0:41	1|1:0,19:19:57:679,57,0:41	1|1:0,14:14:42:486,42,0:41
10	121140321	.	C	T	1364.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2275036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275036" target="_blank">rs2275036</a>;ExAC.Info.AC=19846;ExAC.Info.AN=126702;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=15947;ExAC.Info.AC_Hom=1939;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.149-6C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392870;SAVANT_GENE=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;SAVANT_INFO=+/248.0kb/16/2.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.149-6C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRK5+c.149-6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121140321">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1494:125	0|1:17,14:31:99:359,0,510:125	0|1:8,12:20:99:343,0,237:125
10	121140511	.	A	G	12565.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4751714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4751714" target="_blank">rs4751714</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.261+72A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262A>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392870;SAVANT_GENE=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;SAVANT_INFO=+/248.0kb/16/2.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.261+72A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRK5+c.261+72A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121140511">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1786,132,0:95	1|1:0,50:50:99:2156,150,0:95	1|1:0,32:32:96:1375,96,0:95
10	121140534	.	C	G	9815.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2275037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275037" target="_blank">rs2275037</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.261+95C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RGS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.262C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392870;SAVANT_GENE=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;SAVANT_INFO=+/248.0kb/16/2.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.261+95C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRK5+c.261+95C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121140534">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:81:1189,81,0:74	1|1:0,43:43:99:1875,132,0:74	1|1:0,25:25:75:1121,75,0:74
10	121190040	.	C	G	8031.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10787967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10787967" target="_blank">rs10787967</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.597+90C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392870;SAVANT_GENE=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;SAVANT_INFO=+/248.0kb/16/2.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.597+90C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRK5+c.597+90C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121190040">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2186,171,0:127	1|0:33,24:57:99:712,0,1053:127	1|0:28,19:47:99:554,0,901:127
10	121190113	.	T	C	3110.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs915120;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=915120" target="_blank">rs915120</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.597+163T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:ATP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392870;SAVANT_GENE=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;SAVANT_INFO=+/248.0kb/16/2.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.597+163T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRK5+c.597+163T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121190113">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1922:127	0|1:31,37:68:99:976,0,863:127	0|1:23,21:44:99:598,0,665:127
10	121199189	.	T	C	33644.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2245364;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2245364" target="_blank">rs2245364</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.930-54T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.930T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392870;SAVANT_GENE=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;SAVANT_INFO=+/248.0kb/16/2.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.930-54T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRK5+c.930-54T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121199189">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:4177,340,0:127	1|1:0,129:129:99:4816,388,0:127	1|1:0,115:115:99:4257,346,0:127
10	121199310	.	T	C	28833.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=537;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1109490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1109490" target="_blank">rs1109490</a>;ExAC.Info.AC=56089;ExAC.Info.AN=126700;ExAC.Info.AF=0.443;ExAC.Info.AC_Het=29458;ExAC.Info.AC_Hom=13287;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.967+30T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.968T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.968T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.968T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.968T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.968T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.968T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.968T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392870;SAVANT_GENE=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;SAVANT_INFO=+/248.0kb/16/2.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.967+30T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRK5+c.967+30T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121199310">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,161:161:99:5147,483,0:127	1|0:102,95:197:99:2602,0,2879:127	1|0:80,99:179:99:2823,0,2209:127
10	121201626	.	T	C	10031.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2275044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275044" target="_blank">rs2275044</a>;ExAC.Info.AC=104580;ExAC.Info.AN=126564;ExAC.Info.AF=0.826;ExAC.Info.AC_Het=16844;ExAC.Info.AC_Hom=43049;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1057+26T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1058T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1058T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1058T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1058T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1058T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1058T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1058T>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392870;SAVANT_GENE=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;SAVANT_INFO=+/248.0kb/16/2.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1057+26T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRK5+c.1057+26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121201626">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1517,129,0:124	1|1:0,42:42:99:1428,126,0:124	1|1:0,43:43:99:1416,129,0:124
10	121203081	.	G	T	1410.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs116059103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=116059103" target="_blank">rs116059103</a>;ExAC.Info.AC=6;ExAC.Info.AN=126702;ExAC.Info.AF=4.736e-05;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083G>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083G>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083G>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083G>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083G>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083G>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083G>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agG/agT;snpeff.Amino_Acid_Change=p.Arg361Ser/c.1083G>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000392870;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392870;SAVANT_GENE=GRK5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GRK5" target="_blank">GRK5</a>;SAVANT_INFO=+/248.0kb/16/2.7kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1083G>T_p.Arg361Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GRK5+c.1083G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121203081">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2080:127	0|0:77,0:77:99:0,231,2632:127	0|1:20,27:47:99:724,0,574:127
10	121429633	.	T	C	8934.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=372;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Myopathy|_myofibrillar|_6|_612954_(3)|_Cardiomyopathy|_dilated|_1HH|_613881_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2234962;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234962" target="_blank">rs2234962</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Cardiomyopathy|_dilated|_reduced_risk;hgmd_2014.2.OMIM_ID=603883;hgmd_2014.2.PubMed=21459883;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21459883" target="_blank">21459883</a>;ExAC.Info.AC=22035;ExAC.Info.AN=126650;ExAC.Info.AF=0.174;ExAC.Info.AC_Het=17260;ExAC.Info.AC_Hom=2302;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000123811|RCV000037893;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:WW_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.451T>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=BAG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAG3" target="_blank">BAG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369085;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys151Arg/c.451T>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=BAG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAG3" target="_blank">BAG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369085;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369085;SAVANT_GENE=BAG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAG3" target="_blank">BAG3</a>;SAVANT_INFO=+/26.5kb/4/2.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.451T>C_p.Cys151Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BAG3+c.451T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121429633">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000123811%20OR%20RCV000037893" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:58,53:111:99:1456,0,1700:127	0|0:140,0:140:99:0,419,4654:127	1|0:57,64:121:99:1776,0,1558:127
10	121435955	.	A	C	20940.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Myopathy|_myofibrillar|_6|_612954_(3)|_Cardiomyopathy|_dilated|_1HH|_613881_(3);dbSNP139.ID=rs196294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=196294" target="_blank">rs196294</a>;ExAC.Info.AC=85412;ExAC.Info.AN=126678;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=26578;ExAC.Info.AC_Hom=29132;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.910-21A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=BAG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAG3" target="_blank">BAG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369085;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369085;SAVANT_GENE=BAG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAG3" target="_blank">BAG3</a>;SAVANT_INFO=+/26.5kb/4/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.910-21A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BAG3+c.910-21A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121435955">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:3886,345,0:127	1|0:63,62:125:99:1698,0,1628:127	1|1:0,87:87:99:3093,261,0:127
10	121436362	.	A	G	39835.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=604;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Myopathy|_myofibrillar|_6|_612954_(3)|_Cardiomyopathy|_dilated|_1HH|_613881_(3);dbSNP139.ID=rs196295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=196295" target="_blank">rs196295</a>;ExAC.Info.AC=93761;ExAC.Info.AN=126704;ExAC.Info.AF=0.740;ExAC.Info.AC_Het=23428;ExAC.Info.AC_Hom=35129;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000123817|RCV000037886;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[domain:BAG];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1296A>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=BAG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAG3" target="_blank">BAG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369085;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val432Val/c.1296A>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=BAG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAG3" target="_blank">BAG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369085;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369085;SAVANT_GENE=BAG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BAG3" target="_blank">BAG3</a>;SAVANT_INFO=+/26.5kb/4/2.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1296A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BAG3+c.1296A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121436362">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000123817%20OR%20RCV000037886" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,203:203:99:7133,610,0:127	1|0:116,104:220:99:3087,0,3132:127	1|1:0,181:181:99:6459,543,0:127
10	121551581	.	A	C	4688.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=551;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2289306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2289306" target="_blank">rs2289306</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=55300;ExAC.Info.AN=126704;ExAC.Info.AF=0.436;ExAC.Info.AC_Het=29319;ExAC.Info.AC_Hom=12978;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.612+33A>C;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613A>C;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613A>C;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613A>C;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613A>C;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613A>C;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613A>C;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613A>C;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613A>C;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.613A>C;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361976;SAVANT_GENE=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;SAVANT_INFO=+/103.0kb/20/4.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.612+33A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5F+c.612+33A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121551581">View</a>	GT:AD:DP:GQ:PL:TP	0|0:179,0:179:99:0,538,6097:127	0|0:194,0:194:99:0,583,6935:127	0|1:97,81:178:99:2363,0,2841:127
10	121565015	.	C	G	2804.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2273749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273749" target="_blank">rs2273749</a>;ExAC.Info.AC=36436;ExAC.Info.AN=126642;ExAC.Info.AF=0.288;ExAC.Info.AC_Het=24346;ExAC.Info.AC_Hom=5677;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1319+42C>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1320C>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1320C>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1320C>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1320C>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1320C>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1320C>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1320C>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1320C>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1320C>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361976;SAVANT_GENE=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;SAVANT_INFO=+/103.0kb/20/4.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1319+42C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5F+c.1319+42C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121565015">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,3006:127	0|1:60,47:107:99:1421,0,1834:127	0|0:87,0:87:99:0,262,3229:127
10	121582556	.	T	C	6522.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=590;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2289307;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2289307" target="_blank">rs2289307</a>;ExAC.Info.AC=37185;ExAC.Info.AN=126678;ExAC.Info.AF=0.294;ExAC.Info.AC_Het=25985;ExAC.Info.AC_Hom=5557;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2033-27T>C;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361976;SAVANT_GENE=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;SAVANT_INFO=+/103.0kb/20/4.9kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2033-27T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5F+c.2033-27T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121582556">View</a>	GT:AD:DP:GQ:PL:TP	0|0:190,0:190:99:0,571,6637:127	0|0:203,0:203:99:0,610,7260:127	0|1:89,108:197:99:3280,0,2600:127
10	121586827	.	A	G	5710.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=579;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs56055506;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56055506" target="_blank">rs56055506</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=25439;ExAC.Info.AN=126702;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=19167;ExAC.Info.AC_Hom=3131;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg978Arg/c.2934A>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361976;SAVANT_GENE=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;SAVANT_INFO=+/103.0kb/20/4.9kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2934A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5F+c.2934A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121586827">View</a>	GT:AD:DP:GQ:PL:TP	0|0:174,0:174:99:0,523,5541:127	0|1:107,104:211:99:2874,0,2996:127	0|0:193,1:194:99:0,543,6288:127
10	121586882	.	A	G	6492.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=657;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3188055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3188055" target="_blank">rs3188055</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37211;ExAC.Info.AN=126702;ExAC.Info.AF=0.294;ExAC.Info.AC_Het=26052;ExAC.Info.AC_Hom=5577;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn997Asp/c.2989A>G;snpeff.Amino_Acid_length=1132;snpeff.Gene_Name=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361976;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361976;SAVANT_GENE=INPP5F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5F" target="_blank">INPP5F</a>;SAVANT_INFO=+/103.0kb/20/4.9kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.2989A>G_p.Asn997Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5F+c.2989A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121586882">View</a>	GT:AD:DP:GQ:PL:TP	0|0:205,0:205:99:0,616,6946:127	0|0:238,0:238:99:0,715,8231:127	0|1:104,110:214:99:3265,0,2923:127
10	121591511	.	G	A	5866.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=595;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2273747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273747" target="_blank">rs2273747</a>;ExAC.Info.AC=25452;ExAC.Info.AN=126664;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=19039;ExAC.Info.AC_Hom=3077;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1802+13C>T;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=MCMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCMBP" target="_blank">MCMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360003;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360003;SAVANT_GENE=MCMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCMBP" target="_blank">MCMBP</a>;SAVANT_INFO=-/43.3kb/16/4.1kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1802+13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCMBP+c.1802+13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121591511">View</a>	GT:AD:DP:GQ:PL:TP	0|0:154,0:154:99:0,463,5180:127	0|1:128,107:235:99:2952,0,3476:127	0|0:206,0:206:99:0,619,6788:127
10	121596498	.	C	T	5669.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=606;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34118671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34118671" target="_blank">rs34118671</a>;ExAC.Info.AC=13911;ExAC.Info.AN=126704;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=12039;ExAC.Info.AC_Hom=931;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln486Gln/c.1458G>A;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=MCMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCMBP" target="_blank">MCMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360003;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360003;SAVANT_GENE=MCMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCMBP" target="_blank">MCMBP</a>;SAVANT_INFO=-/43.3kb/16/4.1kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1458G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCMBP+c.1458G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121596498">View</a>	GT:AD:DP:GQ:PL:TP	0|0:191,0:191:99:0,574,6592:127	0|1:121,104:225:99:2853,0,3617:127	0|0:190,0:190:99:0,571,6689:127
10	121601977	.	C	G	1374.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7088166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7088166" target="_blank">rs7088166</a>;ExAC.Info.AC=13903;ExAC.Info.AN=126698;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=12003;ExAC.Info.AC_Hom=930;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1130+7G>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=MCMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCMBP" target="_blank">MCMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360003;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1131G>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=MCMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCMBP" target="_blank">MCMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360003;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360003;SAVANT_GENE=MCMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCMBP" target="_blank">MCMBP</a>;SAVANT_INFO=-/43.3kb/16/4.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1130+7G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCMBP+c.1130+7G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121601977">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1508:121	0|1:24,21:45:99:706,0,759:121	0|0:42,0:42:99:0,126,1520:121
10	121632139	.	C	G	1024.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11556854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11556854" target="_blank">rs11556854</a>;ExAC.Info.AC=425;ExAC.Info.AN=11302;ExAC.Info.AF=0.038;ExAC.Info.AC_Het=99;ExAC.Info.AC_Hom=5;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=43;snpeff.Amino_Acid_Change=c.-43G>C;snpeff.Amino_Acid_length=642;snpeff.Gene_Name=MCMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCMBP" target="_blank">MCMBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360003;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360003;SAVANT_GENE=MCMBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCMBP" target="_blank">MCMBP</a>;SAVANT_INFO=-/43.3kb/16/4.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-43G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MCMBP+c.-43G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121632139">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,897:77	0|1:16,20:36:99:531,0,460:77	0|0:36,0:36:99:0,108,1311:77
10	121674228	.	A	AT	4701.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=677;MQ=70.02;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs142923544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142923544" target="_blank">rs142923544</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1313-13_1313-12insT;snpeff.Amino_Acid_length=1000;snpeff.Gene_Name=SEC23IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC23IP" target="_blank">SEC23IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369075;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000369075;SAVANT_GENE=SEC23IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC23IP" target="_blank">SEC23IP</a>;SAVANT_INFO=+/49.4kb/19/4.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1313-6dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC23IP+c.1313-6dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121674228">View</a>	GT:AD:DP:GQ:PL:TP	0|0:207,0:207:99:0,622,6121:127	0|1:129,109:238:99:2374,0,3113:127	0|0:232,0:232:99:0,698,6886:127
10	121679013	.	A	G	37854.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=561;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2475298;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2475298" target="_blank">rs2475298</a>;ExAC.Info.AC=90584;ExAC.Info.AN=126698;ExAC.Info.AF=0.715;ExAC.Info.AC_Het=25540;ExAC.Info.AC_Hom=32498;snpeff.Effect=sequence_feature[domain:SAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=1000;snpeff.Gene_Name=SEC23IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC23IP" target="_blank">SEC23IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369075;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1930A>G;snpeff.Amino_Acid_length=1000;snpeff.Gene_Name=SEC23IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC23IP" target="_blank">SEC23IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369075;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Gaa;snpeff.Amino_Acid_Change=p.Lys644Glu/c.1930A>G;snpeff.Amino_Acid_length=1000;snpeff.Gene_Name=SEC23IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC23IP" target="_blank">SEC23IP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369075;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369075;SAVANT_GENE=SEC23IP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEC23IP" target="_blank">SEC23IP</a>;SAVANT_INFO=+/49.4kb/19/4.7kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1930A>G_p.Lys644Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SEC23IP+c.1930A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121679013">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,168:168:99:5489,504,0:127	1|1:0,214:214:99:7625,643,0:127	1|0:87,92:179:99:2546,0,2460:127
10	121717932	.	G	A	2482.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11199132;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11199132" target="_blank">rs11199132</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11199132" target="_blank">rs11199132</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121717932">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,958:75	0|1:15,22:37:99:594,0,476:75	0|1:15,26:41:99:667,0,433:75
10	121717956	.	GT	G	5472.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs34665773;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34665773" target="_blank">rs34665773</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34665773" target="_blank">rs34665773</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121717956">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,7:28:99:112,0,506:109	1|1:1,45:46:99:1234,110,0:109	0|1:18,28:46:99:650,0,363:109
10	121718112	.	C	T	2286.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11199134;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11199134" target="_blank">rs11199134</a>;ExAC.Info.AC=1174;ExAC.Info.AN=5652;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=14;ExAC.Info.AC_Hom=8;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11199134" target="_blank">rs11199134</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:121718112">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2186:127	0|1:31,21:52:99:552,0,957:127	0|1:23,21:44:99:611,0,634:127
10	122216790	.	A	T	6467.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10886691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10886691" target="_blank">rs10886691</a>;ExAC.Info.AC=27139;ExAC.Info.AN=47450;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=3461;ExAC.Info.AC_Hom=4865;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=28;snpeff.Amino_Acid_Change=c.-28A>T;snpeff.Amino_Acid_length=271;snpeff.Gene_Name=PPAPDC1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAPDC1A" target="_blank">PPAPDC1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398250;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398250;SAVANT_GENE=PPAPDC1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAPDC1A" target="_blank">PPAPDC1A</a>;SAVANT_INFO=+/132.9kb/7/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-28A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPAPDC1A+c.-28A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122216790">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,31:56:99:839,0,613:116	1|1:0,38:38:99:1368,117,0:116	0|1:26,18:44:99:502,0,722:116
10	122216862	.	C	T	7885.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs67319648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67319648" target="_blank">rs67319648</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=8411;ExAC.Info.AN=74388;ExAC.Info.AF=0.113;ExAC.Info.AC_Het=3336;ExAC.Info.AC_Hom=452;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.45C>T;snpeff.Amino_Acid_length=271;snpeff.Gene_Name=PPAPDC1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAPDC1A" target="_blank">PPAPDC1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398250;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.45C>T;snpeff.Amino_Acid_length=271;snpeff.Gene_Name=PPAPDC1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAPDC1A" target="_blank">PPAPDC1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398250;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe15Phe/c.45C>T;snpeff.Amino_Acid_length=271;snpeff.Gene_Name=PPAPDC1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAPDC1A" target="_blank">PPAPDC1A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398250;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398250;SAVANT_GENE=PPAPDC1A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPAPDC1A" target="_blank">PPAPDC1A</a>;SAVANT_INFO=+/132.9kb/7/1.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.45C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPAPDC1A+c.45C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122216862">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,41:94:99:1077,0,1447:127	0|0:84,0:84:99:0,252,2957:127	1|0:35,45:80:99:1296,0,917:127
10	122610787	.	T	A	5127.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs12267610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12267610" target="_blank">rs12267610</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=146;snpeff.Amino_Acid_Change=c.-146T>A;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-146T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.-146T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122610787">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,26:65:99:682,0,1030:127	1|0:48,35:83:99:1064,0,1287:127	0|0:77,0:77:99:0,230,2401:127
10	122624679	.	G	A	18749.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs10886789;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10886789" target="_blank">rs10886789</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=43186;ExAC.Info.AN=126702;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=27387;ExAC.Info.AC_Hom=7891;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr278Thr/c.834G>A;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.834G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.834G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122624679">View</a>	GT:AD:DP:GQ:PL:TP	1|0:182,152:334:99:4231,0,4761:127	0|0:445,0:445:99:0,1336,14737:127	1|0:180,153:333:99:4376,0,4825:127
10	122643597	.	C	A	2272.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs4752469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4752469" target="_blank">rs4752469</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1848+197C>A;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1848+197C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.1848+197C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122643597">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,17:40:99:462,0,692:104	0|0:61,3:64:99:0,104,2126:104	1|0:28,18:46:99:426,0,869:104
10	122643699	.	G	C	5845.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs4752470;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4752470" target="_blank">rs4752470</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1848+299G>C;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1848+299G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.1848+299G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122643699">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,39:75:99:1137,0,1119:127	0|0:104,1:105:99:0,275,3790:127	1|0:47,36:83:99:976,0,1359:127
10	122645376	.	A	T	12152.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=587;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs7899928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7899928" target="_blank">rs7899928</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=45901;ExAC.Info.AN=126700;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=28456;ExAC.Info.AC_Hom=8721;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcT;snpeff.Amino_Acid_Change=p.Ala633Ala/c.1899A>T;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1899A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.1899A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122645376">View</a>	GT:AD:DP:GQ:PL:TP	1|0:97,88:185:99:2690,0,2868:127	0|0:216,0:216:99:0,649,7651:127	1|0:91,95:186:99:2716,0,2649:127
10	122646160	.	G	GA	5900.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs11395714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11395714" target="_blank">rs11395714</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1974-40_1974-39insA;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1974-32dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.1974-32dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122646160">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,54:111:99:1160,0,1293:127	0|0:160,1:161:99:0,477,4523:127	1|0:50,62:112:99:1415,0,1055:127
10	122649482	.	A	G	7877.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs2289337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2289337" target="_blank">rs2289337</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=26160;ExAC.Info.AN=126702;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=20431;ExAC.Info.AC_Hom=2816;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2304A>G;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2304A>G;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala768Ala/c.2304A>G;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2304A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.2304A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122649482">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,41:92:99:1090,0,1323:127	1|0:67,64:131:99:1902,0,1759:127	0|0:126,0:126:99:0,378,4342:127
10	122659490	.	C	T	4189.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs2289336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2289336" target="_blank">rs2289336</a>;ExAC.Info.AC=44381;ExAC.Info.AN=126530;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=26983;ExAC.Info.AC_Hom=7822;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2516-51C>T;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2516-51C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.2516-51C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122659490">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,31:68:99:928,0,1257:127	0|0:79,0:79:99:0,238,3099:127	1|0:40,34:74:99:1070,0,1342:127
10	122663585	.	G	A	43882.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=838;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs1652727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1652727" target="_blank">rs1652727</a>;ExAC.Info.AC=84003;ExAC.Info.AN=126696;ExAC.Info.AF=0.663;ExAC.Info.AC_Het=27327;ExAC.Info.AC_Hom=28212;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu986Leu/c.2958G>A;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2958G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.2958G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122663585">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,247:247:99:7648,741,0:127	1|1:0,315:315:99:10044,946,0:127	1|0:138,138:276:99:3704,0,4261:127
10	122664378	.	A	G	3918.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs72842639;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72842639" target="_blank">rs72842639</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3193+55A>G;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3193+55A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.3193+55A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122664378">View</a>	GT:AD:DP:GQ:PL:TP	0|0:136,0:136:99:0,409,5341:127	0|1:75,62:137:99:1978,0,2493:127	0|0:148,0:148:99:0,445,6003:127
10	122664388	.	C	T	8188.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs10886798;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10886798" target="_blank">rs10886798</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3193+65C>T;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3193+65C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.3193+65C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122664388">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,51:120:99:1491,0,2224:127	0|0:124,0:124:99:0,376,5244:127	1|0:71,70:141:99:2162,0,2164:127
10	122664967	.	C	T	9217.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs1866516;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1866516" target="_blank">rs1866516</a>;ExAC.Info.AC=75903;ExAC.Info.AN=126702;ExAC.Info.AF=0.599;ExAC.Info.AC_Het=29499;ExAC.Info.AC_Hom=23141;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3291+39C>T;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3291+39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.3291+39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122664967">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2155,192,0:127	1|0:48,29:77:99:761,0,1370:127	1|0:42,25:67:99:643,0,1152:127
10	122668296	.	G	A	10078.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs7077126;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7077126" target="_blank">rs7077126</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=71;snpeff.Amino_Acid_Change=c.*71G>A;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*71G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.*71G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122668296">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,85:153:99:2427,0,1976:127	0|0:180,1:181:99:0,507,6146:127	1|0:90,76:166:99:2137,0,2605:127
10	122668353	.	T	TAAGA	16922.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=589;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3)|Hypogonadotropic_hypogonadism_14_with_or_without_anosmia|_614858_(3);dbSNP139.ID=rs71019801;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71019801" target="_blank">rs71019801</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=129;snpeff.Amino_Acid_Change=c.*129_*130insAAGA;snpeff.Amino_Acid_length=1224;snpeff.Gene_Name=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263461;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000263461;SAVANT_GENE=WDR11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR11" target="_blank">WDR11</a>;SAVANT_INFO=+/58.3kb/29/4.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*129_*132dupAAGA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=WDR11+c.*129_*132dupAAGA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122668353">View</a>	GT:AD:DP:GQ:PL:TP	1|0:86,96:182:99:3932,0,3295:127	0|0:201,0:201:99:0,606,9037:127	1|0:115,91:206:99:3560,0,4542:127
10	122687144	.	G	A	15098.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=365;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs6585677;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6585677" target="_blank">rs6585677</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.50-1192C>T;snpeff.Gene_Name=RP11-95I16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-95I162" target="_blank">RP11-95I162</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414774;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-95I162" target="_blank">RP11-95I162</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-95I162+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122687144">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4283,366,0:127	1|0:78,54:132:99:1544,0,2333:127	1|0:55,56:111:99:1509,0,1485:127
10	122687195	.	G	GT	22912.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=490;MQ=70.09;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11374928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11374928" target="_blank">rs11374928</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.50-1243_50-1244insA;snpeff.Gene_Name=RP11-95I16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-95I162" target="_blank">RP11-95I162</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414774;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-95I162" target="_blank">RP11-95I162</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-95I162+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:122687195">View</a>	GT:AD:DP:GQ:PL:TP	1|1:7,157:164:99:3895,297,0:127	1|1:5,172:177:99:4469,415,0:127	1|1:11,138:149:99:3296,145,0:127
10	123239112	.	G	A	49901.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=796;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Crouzon_syndrome|_123500_(3)|_Jackson-Weiss_syndrome|_123150_(3)|_Beare-Stevenson_cutis_gyrata_syndrome|_123790_(3)|_Pfeiffer_syndrome|_101600_(3)|_Apert_syndrome|_101200_(3)|_Saethre-Chotzen_syndrome|_101400_(3)|_Craniosynostosis|_nonspecific_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Craniofacial-skeletal-dermatologic_dysplasia|_101600_(3)|_Antley-Bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis|_207410_(3)|_Scaphocephaly_and_Axenfeld-Rieger_anomaly_(3)|_LADD_syndrome|_149730_(3)|_Scaphocephaly|_maxillary_retrusion|_and_mental_retardation|_609579_(3)|_Bent_bone_dysplasia_syndrome|_614592_(3);dbSNP139.ID=rs1047057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1047057" target="_blank">rs1047057</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=18910;ExAC.Info.AN=50644;ExAC.Info.AF=0.373;ExAC.Info.AC_Het=5402;ExAC.Info.AC_Hom=3560;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=FGFR2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123239112">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,269:269:99:9000,808,0:127	1|1:0,290:290:99:9863,871,0:127	1|0:129,108:237:99:2996,0,3631:127
10	123243197	.	G	A	21494.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Crouzon_syndrome|_123500_(3)|_Jackson-Weiss_syndrome|_123150_(3)|_Beare-Stevenson_cutis_gyrata_syndrome|_123790_(3)|_Pfeiffer_syndrome|_101600_(3)|_Apert_syndrome|_101200_(3)|_Saethre-Chotzen_syndrome|_101400_(3)|_Craniosynostosis|_nonspecific_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Craniofacial-skeletal-dermatologic_dysplasia|_101600_(3)|_Antley-Bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis|_207410_(3)|_Scaphocephaly_and_Axenfeld-Rieger_anomaly_(3)|_LADD_syndrome|_149730_(3)|_Scaphocephaly|_maxillary_retrusion|_and_mental_retardation|_609579_(3)|_Bent_bone_dysplasia_syndrome|_614592_(3);dbSNP139.ID=rs2278202;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2278202" target="_blank">rs2278202</a>;ExAC.Info.AC=68759;ExAC.Info.AN=126680;ExAC.Info.AF=0.543;ExAC.Info.AC_Het=27976;ExAC.Info.AC_Hom=19368;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2304+15C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2305G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000457416;SAVANT_GENE=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;SAVANT_INFO=-/118.5kb/18/3.1kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2304+15C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FGFR2+c.2304+15C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123243197">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,102:102:99:3583,307,0:127	1|1:0,119:119:99:4166,358,0:127	1|0:43,47:90:99:1331,0,1293:127
10	123244834	.	C	T	4796.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=619;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Crouzon_syndrome|_123500_(3)|_Jackson-Weiss_syndrome|_123150_(3)|_Beare-Stevenson_cutis_gyrata_syndrome|_123790_(3)|_Pfeiffer_syndrome|_101600_(3)|_Apert_syndrome|_101200_(3)|_Saethre-Chotzen_syndrome|_101400_(3)|_Craniosynostosis|_nonspecific_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Craniofacial-skeletal-dermatologic_dysplasia|_101600_(3)|_Antley-Bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis|_207410_(3)|_Scaphocephaly_and_Axenfeld-Rieger_anomaly_(3)|_LADD_syndrome|_149730_(3)|_Scaphocephaly|_maxillary_retrusion|_and_mental_retardation|_609579_(3)|_Bent_bone_dysplasia_syndrome|_614592_(3);dbSNP139.ID=rs1613776;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1613776" target="_blank">rs1613776</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2198+75G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2199C>T;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000457416;SAVANT_GENE=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;SAVANT_INFO=-/118.5kb/18/3.1kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2198+75G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FGFR2+c.2198+75G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123244834">View</a>	GT:AD:DP:GQ:PL:TP	0|0:201,0:201:99:0,604,6603:127	0|0:244,0:244:99:0,733,8227:127	0|1:90,84:174:99:2417,0,2544:127
10	123245077	.	T	C	2184.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Crouzon_syndrome|_123500_(3)|_Jackson-Weiss_syndrome|_123150_(3)|_Beare-Stevenson_cutis_gyrata_syndrome|_123790_(3)|_Pfeiffer_syndrome|_101600_(3)|_Apert_syndrome|_101200_(3)|_Saethre-Chotzen_syndrome|_101400_(3)|_Craniosynostosis|_nonspecific_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Craniofacial-skeletal-dermatologic_dysplasia|_101600_(3)|_Antley-Bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis|_207410_(3)|_Scaphocephaly_and_Axenfeld-Rieger_anomaly_(3)|_LADD_syndrome|_149730_(3)|_Scaphocephaly|_maxillary_retrusion|_and_mental_retardation|_609579_(3)|_Bent_bone_dysplasia_syndrome|_614592_(3);dbSNP139.ID=rs3135806;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3135806" target="_blank">rs3135806</a>;ExAC.Info.AC=1908;ExAC.Info.AN=126704;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1857;ExAC.Info.AC_Hom=25;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2061-31A>G;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2061T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000457416;SAVANT_GENE=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;SAVANT_INFO=-/118.5kb/18/3.1kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2061-31A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FGFR2+c.2061-31A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123245077">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,2788:127	0|0:128,1:129:99:0,345,4282:127	0|1:49,36:85:99:1111,0,1360:127
10	123279745	.	C	T	19247.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Crouzon_syndrome|_123500_(3)|_Jackson-Weiss_syndrome|_123150_(3)|_Beare-Stevenson_cutis_gyrata_syndrome|_123790_(3)|_Pfeiffer_syndrome|_101600_(3)|_Apert_syndrome|_101200_(3)|_Saethre-Chotzen_syndrome|_101400_(3)|_Craniosynostosis|_nonspecific_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Craniofacial-skeletal-dermatologic_dysplasia|_101600_(3)|_Antley-Bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis|_207410_(3)|_Scaphocephaly_and_Axenfeld-Rieger_anomaly_(3)|_LADD_syndrome|_149730_(3)|_Scaphocephaly|_maxillary_retrusion|_and_mental_retardation|_609579_(3)|_Bent_bone_dysplasia_syndrome|_614592_(3);dbSNP139.ID=rs2981448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2981448" target="_blank">rs2981448</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.749-62G>A;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000457416;SAVANT_GENE=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;SAVANT_INFO=-/118.5kb/18/3.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.749-62G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FGFR2+c.749-62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123279745">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2583,231,0:127	1|1:0,87:87:99:2960,261,0:127	1|1:0,87:87:99:2908,261,0:127
10	123298158	.	T	C	22443.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Crouzon_syndrome|_123500_(3)|_Jackson-Weiss_syndrome|_123150_(3)|_Beare-Stevenson_cutis_gyrata_syndrome|_123790_(3)|_Pfeiffer_syndrome|_101600_(3)|_Apert_syndrome|_101200_(3)|_Saethre-Chotzen_syndrome|_101400_(3)|_Craniosynostosis|_nonspecific_(3)|_Gastric_cancer|_somatic|_613659_(3)|_Craniofacial-skeletal-dermatologic_dysplasia|_101600_(3)|_Antley-Bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis|_207410_(3)|_Scaphocephaly_and_Axenfeld-Rieger_anomaly_(3)|_LADD_syndrome|_149730_(3)|_Scaphocephaly|_maxillary_retrusion|_and_mental_retardation|_609579_(3)|_Bent_bone_dysplasia_syndrome|_614592_(3);dbSNP139.ID=rs1047100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1047100" target="_blank">rs1047100</a>;ExAC.Info.AC=98806;ExAC.Info.AN=126704;ExAC.Info.AF=0.780;ExAC.Info.AC_Het=21150;ExAC.Info.AC_Hom=38816;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_C2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val232Val/c.696A>G;snpeff.Amino_Acid_length=822;snpeff.Gene_Name=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457416;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000457416;SAVANT_GENE=FGFR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR2" target="_blank">FGFR2</a>;SAVANT_INFO=-/118.5kb/18/3.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.696A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FGFR2+c.696A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123298158">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2816,231,0:127	1|1:0,101:101:99:3737,304,0:127	1|1:0,65:65:99:2458,195,0:127
10	123549691	.	T	G	3811.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35350755;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35350755" target="_blank">rs35350755</a>;ExAC.Info.AC=59432;ExAC.Info.AN=126702;ExAC.Info.AF=0.469;ExAC.Info.AC_Het=31043;ExAC.Info.AC_Hom=14176;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro457Pro/c.1371A>C;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=ATE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATE1" target="_blank">ATE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369043;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369043;SAVANT_GENE=ATE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATE1" target="_blank">ATE1</a>;SAVANT_INFO=-/187.6kb/12/4.9kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1371A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATE1+c.1371A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123549691">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,27:48:99:766,0,686:127	1|0:32,31:63:99:899,0,993:127	0|0:44,0:44:99:0,132,1658:127
10	123596254	.	T	C	6936.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4237536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4237536" target="_blank">rs4237536</a>;ExAC.Info.AC=113763;ExAC.Info.AN=126626;ExAC.Info.AF=0.898;ExAC.Info.AC_Het=11043;ExAC.Info.AC_Hom=51111;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser412Ser/c.1236A>G;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=ATE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATE1" target="_blank">ATE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369043;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369043;SAVANT_GENE=ATE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATE1" target="_blank">ATE1</a>;SAVANT_INFO=-/187.6kb/12/4.9kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1236A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATE1+c.1236A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123596254">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1107,96,0:80	1|1:0,27:27:81:908,81,0:80	1|1:0,29:29:87:999,87,0:80
10	123673339	.	T	C	60227.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=774;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10749435;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10749435" target="_blank">rs10749435</a>;ExAC.Info.AC=114474;ExAC.Info.AN=126696;ExAC.Info.AF=0.904;ExAC.Info.AC_Het=10624;ExAC.Info.AC_Hom=51875;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu101Leu/c.303A>G;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=ATE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATE1" target="_blank">ATE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369043;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369043;SAVANT_GENE=ATE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATE1" target="_blank">ATE1</a>;SAVANT_INFO=-/187.6kb/12/4.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.303A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATE1+c.303A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123673339">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,257:257:99:8840,772,0:127	1|1:1,275:276:99:9494,793,0:127	1|1:0,241:241:99:8355,723,0:127
10	123681962	.	T	C	7183.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10887023;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10887023" target="_blank">rs10887023</a>;ExAC.Info.AC=36391;ExAC.Info.AN=121842;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=14183;ExAC.Info.AC_Hom=3938;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.171-36A>G;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=ATE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATE1" target="_blank">ATE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369043;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369043;SAVANT_GENE=ATE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATE1" target="_blank">ATE1</a>;SAVANT_INFO=-/187.6kb/12/4.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.171-36A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATE1+c.171-36A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123681962">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,36:78:99:1148,0,1043:127	0/1:35,42:77:99:1329,0,940:127	0/1:39,35:74:99:1070,0,1008:127
10	123687456	.	G	A	306.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs79570924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79570924" target="_blank">rs79570924</a>;ExAC.Info.AC=11294;ExAC.Info.AN=124226;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=7947;ExAC.Info.AC_Hom=529;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe3Phe/c.9C>T;snpeff.Amino_Acid_length=518;snpeff.Gene_Name=ATE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATE1" target="_blank">ATE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369043;SAVANT_GENE=ATE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATE1" target="_blank">ATE1</a>;SAVANT_INFO=-/187.6kb/12/4.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.9C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATE1+c.9C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123687456">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,744:52	0|1:18,7:25:99:172,0,579:52	0|0:18,0:18:54:0,54,634:52
10	123719835	.	T	A	2731.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10887033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10887033" target="_blank">rs10887033</a>;ExAC.Info.AC=40334;ExAC.Info.AN=126342;ExAC.Info.AF=0.319;ExAC.Info.AC_Het=24004;ExAC.Info.AC_Hom=5899;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.988+38A>T;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=NSMCE4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSMCE4A" target="_blank">NSMCE4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369023;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369023;SAVANT_GENE=NSMCE4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSMCE4A" target="_blank">NSMCE4A</a>;SAVANT_INFO=-/18.1kb/11/1.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.988+38A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSMCE4A+c.988+38A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123719835">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,11:29:99:278,0,574:90	1|0:27,31:58:99:834,0,818:90	0|0:30,0:30:90:0,90,1062:90
10	123721624	.	TAAA	T	121.79	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=9;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.845-595_845-593delTTT;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=NSMCE4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSMCE4A" target="_blank">NSMCE4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369023;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000369023;SAVANT_GENE=NSMCE4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSMCE4A" target="_blank">NSMCE4A</a>;SAVANT_INFO=-/18.1kb/11/1.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.845-595_845-593delTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSMCE4A+c.845-595_845-593delTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123721624">View</a>	GT:AD:DP:GQ:PL:TP	0|0:3,0:3:9:0,9,56:4	0|1:0,1:1:2:10,3,0:4	0|1:4,1:5:30:30,0,56:4
10	123724767	.	T	G	27704.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4752626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4752626" target="_blank">rs4752626</a>;ExAC.Info.AC=123631;ExAC.Info.AN=126678;ExAC.Info.AF=0.976;ExAC.Info.AC_Het=2334;ExAC.Info.AC_Hom=60234;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.753+34A>C;snpeff.Amino_Acid_length=385;snpeff.Gene_Name=NSMCE4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSMCE4A" target="_blank">NSMCE4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000369023;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369023;SAVANT_GENE=NSMCE4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NSMCE4A" target="_blank">NSMCE4A</a>;SAVANT_INFO=-/18.1kb/11/1.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.753+34A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NSMCE4A+c.753+34A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123724767">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:4034,325,0:127	1|1:0,124:124:99:4676,372,0:127	1|1:0,104:104:99:3697,313,0:127
10	123810060	.	G	A	1366.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11200367;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11200367" target="_blank">rs11200367</a>;ExAC.Info.AC=14909;ExAC.Info.AN=126700;ExAC.Info.AF=0.118;ExAC.Info.AC_Het=12455;ExAC.Info.AC_Hom=1203;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala47Ala/c.141G>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.141G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.141G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123810060">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,956:59	0|1:9,23:32:99:702,0,241:59	0|0:20,0:20:60:0,60,768:59
10	123842523	.	G	A	5094.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=455;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11200385;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11200385" target="_blank">rs11200385</a>;ExAC.Info.AC=26650;ExAC.Info.AN=126554;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20066;ExAC.Info.AC_Hom=3070;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val170Ile/c.508G>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.508G>A_p.Val170Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.508G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123842523">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4710:127	0|0:165,0:165:99:0,496,5690:127	0|1:68,85:153:99:2566,0,1923:127
10	123842825	.	C	G	3037.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11816938;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11816938" target="_blank">rs11816938</a>;ExAC.Info.AC=8286;ExAC.Info.AN=126686;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=7515;ExAC.Info.AC_Hom=380;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro270Pro/c.810C>G;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.810C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.810C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123842825">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,316,3693:127	0|1:66,58:124:99:1532,0,1932:127	0|0:109,0:109:99:0,327,3714:127
10	123844503	.	C	T	1912.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10887063;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10887063" target="_blank">rs10887063</a>;ExAC.Info.AC=22748;ExAC.Info.AN=126702;ExAC.Info.AF=0.180;ExAC.Info.AC_Het=18102;ExAC.Info.AC_Hom=2321;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu830Phe/c.2488C>T;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.2488C>T_p.Leu830Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.2488C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123844503">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2676:127	0|0:80,0:80:99:0,240,2960:127	0|1:31,32:63:99:975,0,938:127
10	123845115	.	G	A	4501.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=255;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61753073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61753073" target="_blank">rs61753073</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=404;ExAC.Info.AN=126624;ExAC.Info.AF=3.191e-03;ExAC.Info.AC_Het=399;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu1034Lys/c.3100G>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3100G>A_p.Glu1034Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.3100G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123845115">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,28:65:99:714,0,1137:127	0|0:105,0:105:99:0,315,3664:127	1|0:48,37:85:99:1014,0,1531:127
10	123845211	.	G	A	1714.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11200387;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11200387" target="_blank">rs11200387</a>;ExAC.Info.AC=19099;ExAC.Info.AN=126642;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=15694;ExAC.Info.AC_Hom=1644;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala1066Thr/c.3196G>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3196G>A_p.Ala1066Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.3196G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123845211">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2377:127	0|0:106,0:106:99:0,318,3538:127	0|1:40,33:73:99:876,0,1200:127
10	123845322	.	T	C	15787.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7073433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7073433" target="_blank">rs7073433</a>;ExAC.Info.AC=126225;ExAC.Info.AN=126664;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=422;ExAC.Info.AC_Hom=62622;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp1103Arg/c.3307T>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3307T>C_p.Trp1103Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.3307T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123845322">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1469,126,0:127	1|1:0,78:78:99:2645,234,0:127	1|1:0,53:53:99:1828,159,0:127
10	123845897	.	G	C	1360.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1106992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1106992" target="_blank">rs1106992</a>;ExAC.Info.AC=27162;ExAC.Info.AN=126644;ExAC.Info.AF=0.214;ExAC.Info.AC_Het=20541;ExAC.Info.AC_Hom=3150;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu1294Leu/c.3882G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3882G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.3882G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123845897">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,183,2353:127	0|0:68,0:68:99:0,204,2535:127	0|1:30,23:53:99:699,0,1001:127
10	123846288	.	G	A	2410.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4752642;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4752642" target="_blank">rs4752642</a>;ExAC.Info.AC=26885;ExAC.Info.AN=126694;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20458;ExAC.Info.AC_Hom=3166;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala1425Thr/c.4273G>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.4273G>A_p.Ala1425Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.4273G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123846288">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,298,3490:127	0|0:111,0:111:99:0,334,3968:127	0|1:51,43:94:99:1224,0,1492:127
10	123846485	.	A	G	2388.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4751871;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4751871" target="_blank">rs4751871</a>;ExAC.Info.AC=26906;ExAC.Info.AN=126688;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20458;ExAC.Info.AC_Hom=3177;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln1490Gln/c.4470A>G;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.4470A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.4470A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123846485">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2651:127	0|0:84,0:84:99:0,253,3294:127	0|1:33,42:75:99:1213,0,1014:127
10	123846490	.	C	T	1992.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7920896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7920896" target="_blank">rs7920896</a>;ExAC.Info.AC=8281;ExAC.Info.AN=126696;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=7505;ExAC.Info.AC_Hom=373;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cTa;snpeff.Amino_Acid_Change=p.Pro1492Leu/c.4475C>T;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.4475C>T_p.Pro1492Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.4475C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123846490">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2735:127	0|1:47,34:81:99:1015,0,1440:127	0|0:71,0:71:99:0,214,2972:127
10	123846860	.	C	T	3728.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=485;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11599291;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11599291" target="_blank">rs11599291</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=26581;ExAC.Info.AN=126688;ExAC.Info.AF=0.210;ExAC.Info.AC_Het=20343;ExAC.Info.AC_Hom=3081;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro1615Pro/c.4845C>T;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.4845C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.4845C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123846860">View</a>	GT:AD:DP:GQ:PL:TP	0|0:150,0:150:99:0,451,4938:127	0|0:189,0:189:99:0,568,6258:127	0|1:75,71:146:99:1883,0,2027:127
10	123847355	.	G	A	1714.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10788237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10788237" target="_blank">rs10788237</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=25825;ExAC.Info.AN=124428;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=18765;ExAC.Info.AC_Hom=2895;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly1780Gly/c.5340G>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.5340G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.5340G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123847355">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,204,2602:127	0|0:91,0:91:99:0,273,3267:127	0|1:37,31:68:99:876,0,1011:127
10	123848113	.	G	A	5477.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=547;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72839700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72839700" target="_blank">rs72839700</a>;ExAC.Info.AC=8098;ExAC.Info.AN=126676;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=7131;ExAC.Info.AC_Hom=335;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5573+7G>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5574G>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.5573+7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.5573+7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123848113">View</a>	GT:AD:DP:GQ:PL:TP	0|0:148,0:148:99:0,445,5190:127	0|1:116,96:212:99:2758,0,3467:127	0|0:187,0:187:99:0,562,6387:127
10	123903133	.	G	A	4249.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12765679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12765679" target="_blank">rs12765679</a>;ExAC.Info.AC=20613;ExAC.Info.AN=126704;ExAC.Info.AF=0.163;ExAC.Info.AC_Het=16274;ExAC.Info.AC_Hom=2165;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Aaa;snpeff.Amino_Acid_Change=p.Glu1916Lys/c.5746G>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.5746G>A_p.Glu1916Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.5746G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123903133">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,30:83:99:738,0,1429:127	1|0:37,34:71:99:974,0,1078:127	0|0:94,0:94:99:0,282,3133:127
10	123970530	.	T	C	7447.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2295873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295873" target="_blank">rs2295873</a>;ExAC.Info.AC=25471;ExAC.Info.AN=126652;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=17026;ExAC.Info.AC_Hom=4044;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val2197Ala/c.6590T>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.6590T>C_p.Val2197Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.6590T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123970530">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,52:95:99:1485,0,1134:127	0|0:120,0:120:99:0,360,3948:127	1|0:31,47:78:99:1384,0,851:127
10	123970569	.	C	T	5179.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2295874;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295874" target="_blank">rs2295874</a>;ExAC.Info.AC=14377;ExAC.Info.AN=126654;ExAC.Info.AF=0.114;ExAC.Info.AC_Het=12447;ExAC.Info.AC_Hom=910;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gTa;snpeff.Amino_Acid_Change=p.Ala2210Val/c.6629C>T;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.6629C>T_p.Ala2210Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.6629C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123970569">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,35:63:99:964,0,830:127	0|0:90,0:90:99:0,274,3605:127	1|0:25,36:61:99:1085,0,792:127
10	123970722	.	T	A	3972.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D|D|D|D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2295876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295876" target="_blank">rs2295876</a>;ExAC.Info.AC=15068;ExAC.Info.AN=126702;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=13344;ExAC.Info.AC_Hom=1013;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTc/cAc;snpeff.Amino_Acid_Change=p.Leu2261His/c.6782T>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.6782T>A_p.Leu2261His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.6782T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123970722">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,20:52:99:472,0,927:127	0|0:82,0:82:99:0,246,2832:127	1|0:31,29:60:99:776,0,958:127
10	123996976	.	G	A	3238.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2295879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2295879" target="_blank">rs2295879</a>;ExAC.Info.AC=38375;ExAC.Info.AN=126704;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=26139;ExAC.Info.AC_Hom=6089;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala2732Thr/c.8194G>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.8194G>A_p.Ala2732Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.8194G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:123996976">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,291,3333:127	0|1:44,55:99:99:1638,0,1214:127	0|0:83,0:83:99:0,250,3018:127
10	124001539	.	G	C	6498.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11200496;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11200496" target="_blank">rs11200496</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8392+23G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8393G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8393G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8393G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8393G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8393G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8393G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8393G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.8392+23G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.8392+23G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124001539">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,31:51:99:912,0,590:114	1|1:0,61:61:99:2090,183,0:114	0|0:38,0:38:99:0,114,1490:114
10	124009124	.	G	C	4323.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|D|D|D|D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56075957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56075957" target="_blank">rs56075957</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=6531;ExAC.Info.AN=126696;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=6019;ExAC.Info.AC_Hom=237;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8726G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8726G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8726G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8726G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8726G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8726G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8726G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aCc;snpeff.Amino_Acid_Change=p.Ser2909Thr/c.8726G>C;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.8726G>C_p.Ser2909Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.8726G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124009124">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,27:52:99:760,0,736:127	1|0:25,33:58:99:943,0,685:127	0|0:52,0:52:99:0,156,1895:127
10	124013604	.	C	A	4971.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3763763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3763763" target="_blank">rs3763763</a>;ExAC.Info.AC=34145;ExAC.Info.AN=126700;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=24759;ExAC.Info.AC_Hom=4677;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=33;snpeff.Amino_Acid_Change=c.*33C>A;snpeff.Amino_Acid_length=2948;snpeff.Gene_Name=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334433;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000369005;SAVANT_GENE=TACC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TACC2" target="_blank">TACC2</a>;SAVANT_INFO=+/265.4kb/23/9.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*33C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TACC2+c.*33C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124013604">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,405,4416:127	0|1:118,91:209:99:2502,0,3395:127	0|0:156,0:156:99:0,468,5234:127
10	124036226	.	T	C	1850.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7086403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7086403" target="_blank">rs7086403</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19-77T>C;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368994;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260723;SAVANT_GENE=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;SAVANT_INFO=+/66.9kb/16/1.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.19-80T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD16+c.19-80T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124036226">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2353:127	0|0:85,0:85:99:0,255,2998:127	0|1:25,34:59:99:944,0,686:127
10	124066652	.	G	A	3334.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7082865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7082865" target="_blank">rs7082865</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.795-52G>A;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368994;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260723;SAVANT_GENE=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;SAVANT_INFO=+/66.9kb/16/1.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.792-52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD16+c.792-52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124066652">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1748:127	0|1:39,30:69:99:895,0,1164:127	0|1:29,28:57:99:792,0,780:127
10	124089036	.	G	A	3694.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2421013;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2421013" target="_blank">rs2421013</a>;ExAC.Info.AC=71217;ExAC.Info.AN=126704;ExAC.Info.AF=0.562;ExAC.Info.AC_Het=29729;ExAC.Info.AC_Hom=20726;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg319Gln/c.956G>A;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368994;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260723;SAVANT_GENE=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;SAVANT_INFO=+/66.9kb/16/1.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.953G>A_p.Arg318Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD16+c.953G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124089036">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,2785:127	0|1:34,31:65:99:919,0,972:127	0|1:32,33:65:99:948,0,890:127
10	124089075	.	G	A	1058.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs986178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=986178" target="_blank">rs986178</a>;ExAC.Info.AC=13959;ExAC.Info.AN=126702;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=12144;ExAC.Info.AC_Hom=894;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gAc;snpeff.Amino_Acid_Change=p.Gly332Asp/c.995G>A;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368994;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260723;SAVANT_GENE=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;SAVANT_INFO=+/66.9kb/16/1.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.992G>A_p.Gly331Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD16+c.992G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124089075">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,1844:123	0|0:41,0:41:99:0,123,1513:123	0|1:23,20:43:99:548,0,659:123
10	124091921	.	C	T	2544.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4627016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4627016" target="_blank">rs4627016</a>;ExAC.Info.AC=69139;ExAC.Info.AN=126690;ExAC.Info.AF=0.546;ExAC.Info.AC_Het=30611;ExAC.Info.AC_Hom=18924;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1090-30C>T;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368994;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260723;SAVANT_GENE=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;SAVANT_INFO=+/66.9kb/16/1.8kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1087-30C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD16+c.1087-30C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124091921">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1418:114	0|1:17,31:48:99:1032,0,458:114	0|1:16,10:26:99:260,0,413:114
10	124096035	.	T	C	4258.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3817281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3817281" target="_blank">rs3817281</a>;ExAC.Info.AC=49653;ExAC.Info.AN=126702;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=28696;ExAC.Info.AC_Hom=10182;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser431Ser/c.1293T>C;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368994;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260723;SAVANT_GENE=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;SAVANT_INFO=+/66.9kb/16/1.8kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1290T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD16+c.1290T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124096035">View</a>	GT:AD:DP:GQ:PL:TP	0|0:121,0:121:99:0,373,6001:127	0|1:48,52:100:99:2148,0,2280:127	0|0:102,0:102:99:0,319,5371:127
10	124096041	.	T	C	4568.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1129973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1129973" target="_blank">rs1129973</a>;cosmic68.Histology_subtype=plasma_cell_myeloma;ExAC.Info.AC=49652;ExAC.Info.AN=126702;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=28702;ExAC.Info.AC_Hom=10180;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser433Ser/c.1299T>C;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368994;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260723;SAVANT_GENE=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;SAVANT_INFO=+/66.9kb/16/1.8kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1296T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD16+c.1296T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124096041">View</a>	GT:AD:DP:GQ:PL:TP	0|0:124,0:124:99:0,376,6054:127	0|1:51,60:111:99:2303,0,2301:127	0|0:102,0:102:99:0,316,5355:127
10	124096061	.	A	C	4051.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1048347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048347" target="_blank">rs1048347</a>;ExAC.Info.AC=50077;ExAC.Info.AN=126704;ExAC.Info.AF=0.395;ExAC.Info.AC_Het=28380;ExAC.Info.AC_Hom=10743;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cCc;snpeff.Amino_Acid_Change=p.His440Pro/c.1319A>C;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368994;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260723;SAVANT_GENE=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;SAVANT_INFO=+/66.9kb/16/1.8kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1316A>C_p.His439Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD16+c.1316A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124096061">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,375,3971:127	0|1:58,69:127:99:2044,0,1702:127	0|0:124,0:124:99:0,373,4187:127
10	124096209	.	C	T	4002.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3817284;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3817284" target="_blank">rs3817284</a>;ExAC.Info.AC=49885;ExAC.Info.AN=126638;ExAC.Info.AF=0.394;ExAC.Info.AC_Het=28004;ExAC.Info.AC_Hom=10558;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1455+12C>T;snpeff.Amino_Acid_length=507;snpeff.Gene_Name=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368994;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000260723;SAVANT_GENE=BTBD16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD16" target="_blank">BTBD16</a>;SAVANT_INFO=+/66.9kb/16/1.8kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1452+12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD16+c.1452+12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124096209">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,295,3342:127	0|1:51,67:118:99:2020,0,1433:127	0|0:87,0:87:99:0,262,2978:127
10	124159835	.	A	G	7169.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs9988734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9988734" target="_blank">rs9988734</a>;ExAC.Info.AC=17944;ExAC.Info.AN=126700;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=15103;ExAC.Info.AC_Hom=1399;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.199-24A>G;snpeff.Amino_Acid_length=404;snpeff.Gene_Name=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368990;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368990;SAVANT_GENE=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;SAVANT_INFO=+/57.7kb/12/3.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.199-24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA1+c.199-24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124159835">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,54:126:99:1488,0,1892:127	1|0:66,62:128:99:1804,0,1774:127	0|0:123,0:123:99:0,369,4058:127
10	124176452	.	G	A	5595.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4612730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4612730" target="_blank">rs4612730</a>;ExAC.Info.AC=1778;ExAC.Info.AN=5420;ExAC.Info.AF=0.328;ExAC.Info.AC_Het=537;ExAC.Info.AC_Hom=251;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.612+934G>A;snpeff.Amino_Acid_length=404;snpeff.Gene_Name=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368990;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368990;SAVANT_GENE=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;SAVANT_INFO=+/57.7kb/12/3.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.612+934G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA1+c.612+934G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124176452">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,24:53:99:693,0,831:127	0|0:57,0:57:99:0,171,1787:127	1|1:0,49:49:99:1650,147,0:127
10	124183710	.	G	T	18.85	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=52;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ExAC.Info.AC=521;ExAC.Info.AN=125264;ExAC.Info.AF=4.159e-03;ExAC.Info.AC_Het=445;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.682-5G>T;snpeff.Amino_Acid_length=404;snpeff.Gene_Name=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368990;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.682G>T;snpeff.Amino_Acid_length=404;snpeff.Gene_Name=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368990;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368990;SAVANT_GENE=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;SAVANT_INFO=+/57.7kb/12/3.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.682-5G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA1+c.682-5G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124183710">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,2:21:54:0,54,721:27	0|1:10,7:17:28:28,0,230:27	0|0:14,0:14:42:0,42,548:27
10	124183732	.	T	C	7051.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4405249;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4405249" target="_blank">rs4405249</a>;ExAC.Info.AC=112092;ExAC.Info.AN=126622;ExAC.Info.AF=0.885;ExAC.Info.AC_Het=11971;ExAC.Info.AC_Hom=48985;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg233Arg/c.699T>C;snpeff.Amino_Acid_length=404;snpeff.Gene_Name=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368990;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368990;SAVANT_GENE=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;SAVANT_INFO=+/57.7kb/12/3.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.699T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA1+c.699T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124183732">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1321,111,0:53	1|1:0,18:18:54:685,54,0:53	1|1:0,27:27:81:1018,81,0:53
10	124189113	.	G	A	1214.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72832716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72832716" target="_blank">rs72832716</a>;ExAC.Info.AC=12574;ExAC.Info.AN=126658;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=10856;ExAC.Info.AC_Hom=745;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.901-27G>A;snpeff.Amino_Acid_length=404;snpeff.Gene_Name=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368990;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368990;SAVANT_GENE=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;SAVANT_INFO=+/57.7kb/12/3.8kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.901-27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA1+c.901-27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124189113">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1474:125	0|1:24,22:46:99:626,0,712:125	0|0:42,0:42:99:0,126,1459:125
10	124189197	.	A	G	9856.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1045216;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1045216" target="_blank">rs1045216</a>;ExAC.Info.AC=85999;ExAC.Info.AN=126696;ExAC.Info.AF=0.679;ExAC.Info.AC_Het=26838;ExAC.Info.AC_Hom=29557;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr320Ala/c.958A>G;snpeff.Amino_Acid_length=404;snpeff.Gene_Name=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368990;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368990;SAVANT_GENE=PLEKHA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA1" target="_blank">PLEKHA1</a>;SAVANT_INFO=+/57.7kb/12/3.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.958A>G_p.Thr320Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA1+c.958A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124189197">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,30:72:99:868,0,1153:127	0|1:46,42:88:99:1178,0,1352:127	1|1:0,67:67:99:2238,200,0:127
10	124214251	.	G	A	15316.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=463;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10490923;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10490923" target="_blank">rs10490923</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=13284;ExAC.Info.AN=125304;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=11486;ExAC.Info.AC_Hom=889;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg3His/c.8G>A;snpeff.Amino_Acid_length=107;snpeff.Gene_Name=ARMS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2" target="_blank">ARMS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528446;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528446;SAVANT_GENE=ARMS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2" target="_blank">ARMS2</a>;SAVANT_INFO=+/2.7kb/2/0.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.8G>A_p.Arg3His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMS2+c.8G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124214251">View</a>	GT:AD:DP:GQ:PL:TP	0/1:84,60:144:99:1596,0,2411:127	0/1:91,95:186:99:2628,0,2673:127	0/1:62,71:133:99:1946,0,1730:127
10	124214448	.	G	T	1572.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10490924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10490924" target="_blank">rs10490924</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Macular_degeneration|_age-related|_in_smokers|_association_with;hgmd_2014.2.OMIM_ID=611313;hgmd_2014.2.PubMed=16642439;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16642439" target="_blank">16642439</a>;ExAC.Info.AC=31724;ExAC.Info.AN=125046;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=23182;ExAC.Info.AC_Hom=4248;Clinvar.ClinicalSignificance=risk_factor;Clinvar.RCVaccession=RCV000001030;Clinvar.PhenotypeIDs=MedGen:C3151070|OMIM:613778;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Tct;snpeff.Amino_Acid_Change=p.Ala69Ser/c.205G>T;snpeff.Amino_Acid_length=107;snpeff.Gene_Name=ARMS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2" target="_blank">ARMS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528446;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528446;SAVANT_GENE=ARMS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2" target="_blank">ARMS2</a>;SAVANT_INFO=+/2.7kb/2/0.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.205G>T_p.Ala69Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMS2+c.205G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124214448">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001030" target="_blank">risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2329:127	0|0:68,0:68:99:0,205,2670:127	0|1:28,28:56:99:805,0,849:127
10	124214600	.	G	GGT	949.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs144224550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144224550" target="_blank">rs144224550</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.297+61_297+62insGT;snpeff.Amino_Acid_length=107;snpeff.Gene_Name=ARMS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2" target="_blank">ARMS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528446;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000528446;SAVANT_GENE=ARMS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2" target="_blank">ARMS2</a>;SAVANT_INFO=+/2.7kb/2/0.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.297+62_297+63dupTG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMS2+c.297+62_297+63dupTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124214600">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:97:0,97,1423:96	0|0:36,0:36:99:0,109,1579:96	0|1:13,13:26:99:498,0,498:96
10	124216397	.	T	C	9559.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs36213074;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36213074" target="_blank">rs36213074</a>;ExAC.Info.AC=2843;ExAC.Info.AN=24898;ExAC.Info.AF=0.114;ExAC.Info.AC_Het=2350;ExAC.Info.AC_Hom=217;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.298-26T>C;snpeff.Amino_Acid_length=107;snpeff.Gene_Name=ARMS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2" target="_blank">ARMS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528446;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528446;SAVANT_GENE=ARMS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2" target="_blank">ARMS2</a>;SAVANT_INFO=+/2.7kb/2/0.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.298-26T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMS2+c.298-26T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124216397">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,35:83:99:1023,0,1344:127	0/1:65,54:119:99:1755,0,1847:127	0/1:33,43:76:99:1434,0,965:127
10	124216410	.	A	G	11752.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7088128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7088128" target="_blank">rs7088128</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.298-13A>G;snpeff.Amino_Acid_length=107;snpeff.Gene_Name=ARMS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2" target="_blank">ARMS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528446;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528446;SAVANT_GENE=ARMS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2" target="_blank">ARMS2</a>;SAVANT_INFO=+/2.7kb/2/0.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.298-13A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARMS2+c.298-13A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124216410">View</a>	GT:AD:DP:GQ:PL:TP	0/1:61,48:109:99:1539,0,1531:127	0/1:83,66:149:99:2009,0,2277:127	0/1:45,54:99:99:1804,0,1161:127
10	124221270	.	C	T	114.62	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=9;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1049331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1049331" target="_blank">rs1049331</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Macular_degeneration|_age_related|_neovascular|_association_with;hgmd_2014.2.OMIM_ID=602194;hgmd_2014.2.PubMed=18164066;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=18164066" target="_blank">18164066</a>;ExAC.Info.AC=2801;ExAC.Info.AN=10922;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=822;ExAC.Info.AC_Hom=258;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000020489;Clinvar.PhenotypeIDs=GeneReviews:NBK32533|MedGen:C1838577|OMIM:600142|Orphanet:ORPHA199354;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:IGFBP_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.102C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala34Ala/c.102C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368984;SAVANT_GENE=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;SAVANT_INFO=+/53.4kb/9/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.102C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HTRA1+c.102C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124221270">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020489" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:1,0:1:3:0,3,70:3	0|0:3,0:3:9:0,9,216:3	0|1:3,2:5:75:75,0,219:3
10	124221276	.	G	T	114.64	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=9;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2293870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2293870" target="_blank">rs2293870</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Macular_degeneration|_age_related|_neovascular|_association_with;hgmd_2014.2.OMIM_ID=602194;hgmd_2014.2.PubMed=18164066;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=18164066" target="_blank">18164066</a>;ExAC.Info.AC=2749;ExAC.Info.AN=9950;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=642;ExAC.Info.AC_Hom=197;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000020491;Clinvar.PhenotypeIDs=GeneReviews:NBK32533|MedGen:C1838577|OMIM:600142|Orphanet:ORPHA199354;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:IGFBP_N-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108G>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggT;snpeff.Amino_Acid_Change=p.Gly36Gly/c.108G>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368984;SAVANT_GENE=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;SAVANT_INFO=+/53.4kb/9/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.108G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HTRA1+c.108G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124221276">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020491" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:1,0:1:3:0,3,70:3	0|0:3,0:3:9:0,9,216:3	0|1:3,2:5:75:75,0,219:3
10	124266500	.	C	T	5032.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2672582;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2672582" target="_blank">rs2672582</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.972+99C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Serine_protease];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Serine_protease];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Serine_protease];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Serine_protease];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.973C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368984;SAVANT_GENE=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;SAVANT_INFO=+/53.4kb/9/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.972+99C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HTRA1+c.972+99C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124266500">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,1:86:99:0,220,2928:127	0|1:55,52:107:99:1597,0,1542:127	0|1:34,31:65:99:939,0,964:127
10	124271589	.	G	A	73578.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=760;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2672586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2672586" target="_blank">rs2672586</a>;ExAC.Info.AC=126683;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=21;ExAC.Info.AC_Hom=63313;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1274+8G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368984;SAVANT_GENE=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;SAVANT_INFO=+/53.4kb/9/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1274+8G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HTRA1+c.1274+8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124271589">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,226:226:99:9990,686,0:127	1|1:0,291:291:99:11490,878,0:127	1|1:0,243:243:99:9521,740,0:127
10	124271595	.	G	A	35546.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=700;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2272599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272599" target="_blank">rs2272599</a>;ExAC.Info.AC=77480;ExAC.Info.AN=126704;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=29074;ExAC.Info.AC_Hom=24172;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1274+14G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275G>A;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368984;SAVANT_GENE=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;SAVANT_INFO=+/53.4kb/9/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1274+14G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HTRA1+c.1274+14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124271595">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,211:211:99:6838,633,0:127	1|0:136,138:274:99:3709,0,3939:127	1|0:102,113:215:99:3267,0,2868:127
10	124273671	.	C	T	10384.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2293871;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2293871" target="_blank">rs2293871</a>;ExAC.Info.AC=27846;ExAC.Info.AN=126700;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=20416;ExAC.Info.AC_Hom=3709;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1275-36C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1275C>T;snpeff.Amino_Acid_length=480;snpeff.Gene_Name=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368984;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368984;SAVANT_GENE=HTRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTRA1" target="_blank">HTRA1</a>;SAVANT_INFO=+/53.4kb/9/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1275-36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HTRA1+c.1275-36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124273671">View</a>	GT:AD:DP:GQ:PL:TP	0|1:76,69:145:99:2002,0,2332:127	1|0:70,81:151:99:2332,0,2011:127	0|0:133,0:133:99:0,399,4886:127
10	124325409	.	T	G	28604.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3019515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3019515" target="_blank">rs3019515</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.62-74T>G;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.62-74T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.62-74T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124325409">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3397,303,0:127	1|1:0,129:129:99:4228,387,0:127	1|1:0,111:111:99:3809,333,0:127
10	124329672	.	T	C	17280.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3740220;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740220" target="_blank">rs3740220</a>;ExAC.Info.AC=89285;ExAC.Info.AN=124878;ExAC.Info.AF=0.715;ExAC.Info.AC_Het=24736;ExAC.Info.AC_Hom=32229;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-6T>C;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.92T>C;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-6T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.92-6T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124329672">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:2421,163,0:125	1|1:0,61:61:99:2696,184,0:125	1|1:0,42:42:99:1890,126,0:125
10	124329673	.	C	T	17280.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3740221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740221" target="_blank">rs3740221</a>;ExAC.Info.AC=89293;ExAC.Info.AN=124876;ExAC.Info.AF=0.715;ExAC.Info.AC_Het=24731;ExAC.Info.AC_Hom=32235;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-5C>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.92C>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-5C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.92-5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124329673">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:2421,163,0:125	1|1:0,60:60:99:2696,184,0:125	1|1:0,42:42:99:1890,126,0:125
10	124329710	.	C	A	11562.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11523871;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11523871" target="_blank">rs11523871</a>;ExAC.Info.AC=89283;ExAC.Info.AN=124844;ExAC.Info.AF=0.715;ExAC.Info.AC_Het=24717;ExAC.Info.AC_Hom=32258;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Aca;snpeff.Amino_Acid_Change=p.Pro42Thr/c.124C>A;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.124C>A_p.Pro42Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.124C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124329710">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1670,153,0:127	1|1:0,56:56:99:1883,168,0:127	1|1:0,44:44:99:1445,132,0:127
10	124329746	.	A	T	8883.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3740222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740222" target="_blank">rs3740222</a>;ExAC.Info.AC=89279;ExAC.Info.AN=124814;ExAC.Info.AF=0.715;ExAC.Info.AC_Het=24703;ExAC.Info.AC_Hom=32254;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.139+21A>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.139+21A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.139+21A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124329746">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1232,108,0:98	1|1:0,43:43:99:1466,128,0:98	1|1:0,33:33:99:1174,99,0:98
10	124331867	.	C	T	19641.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7084792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7084792" target="_blank">rs7084792</a>;ExAC.Info.AC=124362;ExAC.Info.AN=124854;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=473;ExAC.Info.AC_Hom=61901;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr75Thr/c.225C>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.225C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.225C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124331867">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2343,207,0:127	1|1:0,96:96:99:3363,288,0:127	1|1:0,75:75:99:2514,225,0:127
10	124331944	.	C	T	20184.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2277229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2277229" target="_blank">rs2277229</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.235+67C>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.235+67C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.235+67C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124331944">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2342,163,0:127	1|1:0,75:75:99:3353,235,0:127	1|1:0,54:54:99:2392,166,0:127
10	124331957	.	T	C	18752.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2277230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2277230" target="_blank">rs2277230</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.235+80T>C;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.235+80T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.235+80T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124331957">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:2275,154,0:127	1|1:0,64:64:99:3005,205,0:127	1|1:0,51:51:99:2320,157,0:127
10	124331963	.	A	G	17672.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2277231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2277231" target="_blank">rs2277231</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.235+86A>G;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.235+86A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.235+86A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124331963">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:2155,144,0:127	1|1:0,56:56:99:2694,181,0:127	1|1:0,49:49:99:2275,154,0:127
10	124333308	.	G	A	10101.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2277235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2277235" target="_blank">rs2277235</a>;ExAC.Info.AC=85681;ExAC.Info.AN=124840;ExAC.Info.AF=0.686;ExAC.Info.AC_Het=25883;ExAC.Info.AC_Hom=29871;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.283+30G>A;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.283+30G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.283+30G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124333308">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1093,99,0:127	1|1:0,49:49:99:1618,147,0:127	1|1:0,47:47:99:1500,141,0:127
10	124335866	.	C	T	14208.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1985025;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1985025" target="_blank">rs1985025</a>;ExAC.Info.AC=85593;ExAC.Info.AN=125254;ExAC.Info.AF=0.683;ExAC.Info.AC_Het=24891;ExAC.Info.AC_Hom=28991;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.284-49C>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.284-49C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.284-49C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124335866">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1802,162,0:127	1|1:0,67:67:99:2349,201,0:127	1|1:0,62:62:99:2043,186,0:127
10	124357388	.	G	C	11141.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=494;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs55838439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55838439" target="_blank">rs55838439</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2918-102G>C;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.2918-102G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.2918-102G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124357388">View</a>	GT:AD:DP:GQ:PL:TP	1|0:75,61:136:99:1737,0,2187:127	0|0:188,1:189:99:0,524,6588:127	1|0:100,69:169:99:1785,0,2949:127
10	124376691	.	T	C	10965.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=315;MQ=69.52;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3019533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3019533" target="_blank">rs3019533</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4472-53T>C;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In36/37;SAVANT_HGVS=c.4472-53T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.4472-53T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124376691">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,40:80:99:1559,0,1853:127	1|0:57,61:118:99:2514,0,2201:127	0|0:117,0:117:99:0,361,6198:127
10	124376692	.	G	A	10965.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=320;MQ=69.53;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2981810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2981810" target="_blank">rs2981810</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4472-52G>A;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In36/37;SAVANT_HGVS=c.4472-52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.4472-52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124376692">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,40:79:99:1559,0,1853:127	1|0:57,64:121:99:2514,0,2201:127	0|0:120,0:120:99:0,361,6198:127
10	124390721	.	T	C	2670.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72836136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72836136" target="_blank">rs72836136</a>;ExAC.Info.AC=3991;ExAC.Info.AN=125266;ExAC.Info.AF=0.032;ExAC.Info.AC_Het=3827;ExAC.Info.AC_Hom=82;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5883T>C;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5883T>C;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr1961Thr/c.5883T>C;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=Ex46;SAVANT_HGVS=c.5883T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.5883T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124390721">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2096:127	0|1:53,48:101:99:1354,0,1455:127	0|0:79,0:79:99:0,237,2642:127
10	124399985	.	G	T	14246.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2261660;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2261660" target="_blank">rs2261660</a>;ExAC.Info.AC=57410;ExAC.Info.AN=124820;ExAC.Info.AF=0.460;ExAC.Info.AC_Het=28054;ExAC.Info.AC_Hom=13688;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6965+20G>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6966G>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6966G>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6966G>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6966G>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6966G>T;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=In52/53;SAVANT_HGVS=c.6965+20G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.6965+20G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124399985">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:2818,255,0:127	1|0:48,42:90:99:1216,0,1428:127	1|1:0,65:65:99:2264,195,0:127
10	124402677	.	A	G	29631.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1052715;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052715" target="_blank">rs1052715</a>;ExAC.Info.AC=64389;ExAC.Info.AN=125140;ExAC.Info.AF=0.515;ExAC.Info.AC_Het=28777;ExAC.Info.AC_Hom=17742;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7005A>G;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7005A>G;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7005A>G;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7005A>G;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7005A>G;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro2335Pro/c.7005A>G;snpeff.Amino_Acid_length=2413;snpeff.Gene_Name=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338354;snpeff.Exon_Rank=53;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368909;SAVANT_GENE=DMBT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DMBT1" target="_blank">DMBT1</a>;SAVANT_INFO=+/83.1kb/53/7.7kb;SAVANT_LOC=Ex53;SAVANT_HGVS=c.7005A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DMBT1+c.7005A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124402677">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,149:149:99:5157,447,0:127	1|0:84,75:159:99:2110,0,2527:127	1|1:1,147:148:99:5087,406,0:127
10	124436375	.	G	A	5933.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs72836153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72836153" target="_blank">rs72836153</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72836153" target="_blank">rs72836153</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124436375">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,32:58:99:904,0,625:127	0/1:41,32:73:99:856,0,1137:127	0/1:29,27:56:99:778,0,868:127
10	124457452	.	C	T	29951.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=517;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2947594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2947594" target="_blank">rs2947594</a>;ExAC.Info.AC=98969;ExAC.Info.AN=126704;ExAC.Info.AF=0.781;ExAC.Info.AC_Het=21202;ExAC.Info.AC_Hom=38877;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala269Thr/c.805G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=C10orf120;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf120" target="_blank">C10orf120</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329446;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329446;SAVANT_GENE=C10orf120;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf120" target="_blank">C10orf120</a>;SAVANT_INFO=-/2.1kb/3/1.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.805G>A_p.Ala269Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf120+c.805G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124457452">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,161:161:99:5347,483,0:127	1|0:114,94:208:99:2622,0,3092:127	1|1:0,148:148:99:5137,445,0:127
10	124610027	.	G	A	3038.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1891110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1891110" target="_blank">rs1891110</a>;ExAC.Info.AC=67209;ExAC.Info.AN=126704;ExAC.Info.AF=0.530;ExAC.Info.AC_Het=31011;ExAC.Info.AC_Hom=18088;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-377-4291C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=CUZD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUZD1" target="_blank">CUZD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545804;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5G>A;snpeff.Amino_Acid_length=94;snpeff.Gene_Name=FAM24B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUZD1" target="_blank">CUZD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368896;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro2Leu/c.5C>T;snpeff.Amino_Acid_length=94;snpeff.Gene_Name=FAM24B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUZD1" target="_blank">CUZD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368896;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368904:ENST00000368898;SAVANT_GENE=CUZD1:FAM24B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CUZD1:FAM24B" target="_blank">CUZD1:FAM24B</a>;SAVANT_INFO=-/18.6kb/11/2.9kb:-/30.5kb/4/0.7kb;SAVANT_LOC=5UTR:Ex3;SAVANT_HGVS=c.-4668C>T:c.5C>T_p.Pro2Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CUZD1:FAM24B+c.-4668C>T:c.5C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124610027">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,213,2586:127	0|1:60,50:110:99:1538,0,1758:127	0|0:77,0:77:99:0,231,2688:127
10	124648150	.	A	G	8450.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=705;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10902838;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902838" target="_blank">rs10902838</a>;ExAC.Info.AC=59808;ExAC.Info.AN=126028;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=26461;ExAC.Info.AC_Hom=12523;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.519A>G;snpeff.Gene_Name=RP11-564D11.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-564D113" target="_blank">RP11-564D113</a>;snpeff.Transcript_BioType=transcribed_processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453301;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-564D113" target="_blank">RP11-564D113</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-564D113+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124648150">View</a>	GT:AD:DP:GQ:PL:TP	0|0:202,0:202:99:0,607,6478:127	0|1:141,151:292:99:4244,0,3751:127	0|0:211,0:211:99:0,634,7035:127
10	124653996	.	T	C	874.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12255784;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12255784" target="_blank">rs12255784</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.609-3313T>C;snpeff.Gene_Name=RP11-564D11.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-564D113" target="_blank">RP11-564D113</a>;snpeff.Transcript_BioType=transcribed_processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000453301;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-564D113" target="_blank">RP11-564D113</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-564D113+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124653996">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,1078:65	0|1:20,15:35:99:456,0,661:65	0|0:22,0:22:66:0,66,859:65
10	124697198	.	G	A	4440.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10794580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794580" target="_blank">rs10794580</a>;ExAC.Info.AC=55912;ExAC.Info.AN=126224;ExAC.Info.AF=0.443;ExAC.Info.AC_Het=28788;ExAC.Info.AC_Hom=12258;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1103+23C>T;snpeff.Amino_Acid_length=445;snpeff.Gene_Name=C10orf88;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf88" target="_blank">C10orf88</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000481909;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000481909;SAVANT_GENE=C10orf88;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf88" target="_blank">C10orf88</a>;SAVANT_INFO=-/22.9kb/6/2.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1103+23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf88+c.1103+23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124697198">View</a>	GT:AD:DP:GQ:PL:TP	0|0:147,0:147:99:0,442,4919:127	0|1:85,76:161:99:2239,0,2322:127	0|0:140,0:140:99:0,421,4728:127
10	124742792	.	G	A	10793.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3736583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736583" target="_blank">rs3736583</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=80299;ExAC.Info.AN=126686;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=28001;ExAC.Info.AC_Hom=25908;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser171Ser/c.513G>A;snpeff.Amino_Acid_length=358;snpeff.Gene_Name=PSTK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSTK" target="_blank">PSTK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000406217;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368887;SAVANT_GENE=PSTK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSTK" target="_blank">PSTK</a>;SAVANT_INFO=+/10.4kb/7/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.513G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSTK+c.513G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124742792">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,38:65:99:1060,0,629:127	1|1:0,80:80:99:2892,241,0:127	0|1:26,43:69:99:1254,0,604:127
10	124742858	.	G	A	8334.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs45498396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45498396" target="_blank">rs45498396</a>;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg193Arg/c.579G>A;snpeff.Amino_Acid_length=358;snpeff.Gene_Name=PSTK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSTK" target="_blank">PSTK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000406217;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368887;SAVANT_GENE=PSTK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSTK" target="_blank">PSTK</a>;SAVANT_INFO=+/10.4kb/7/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.579G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSTK+c.579G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124742858">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,46:77:99:1241,0,853:127	0/1:48,51:99:99:1405,0,1291:127	0/1:35,49:84:99:1373,0,943:127
10	124742895	.	G	C	10109.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3736582;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736582" target="_blank">rs3736582</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=80391;ExAC.Info.AN=126704;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=28100;ExAC.Info.AC_Hom=26099;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Cga;snpeff.Amino_Acid_Change=p.Gly206Arg/c.616G>C;snpeff.Amino_Acid_length=358;snpeff.Gene_Name=PSTK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSTK" target="_blank">PSTK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000406217;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368887;SAVANT_GENE=PSTK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSTK" target="_blank">PSTK</a>;SAVANT_INFO=+/10.4kb/7/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.616G>C_p.Gly206Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSTK+c.616G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124742895">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,34:59:99:938,0,698:127	1|1:0,83:83:99:2776,249,0:127	0|1:30,41:71:99:1180,0,842:127
10	124749740	.	A	C	1970.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11190;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11190" target="_blank">rs11190</a>;ExAC.Info.AC=6027;ExAC.Info.AN=20830;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=3643;ExAC.Info.AC_Hom=956;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Cag;snpeff.Amino_Acid_Change=p.Lys310Gln/c.928A>C;snpeff.Amino_Acid_length=358;snpeff.Gene_Name=PSTK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSTK" target="_blank">PSTK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000406217;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368887;SAVANT_GENE=PSTK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSTK" target="_blank">PSTK</a>;SAVANT_INFO=+/10.4kb/7/1.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2721A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSTK+c.*2721A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124749740">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,1:67:99:0,176,2202:127	0|1:61,39:100:99:1004,0,1609:127	0|0:58,0:58:99:0,174,1968:127
10	124787047	.	T	C	2880.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=2-methylbutyrylglycinuria|_610006_(3);dbSNP139.ID=rs10794584;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794584" target="_blank">rs10794584</a>;ExAC.Info.AC=5553;ExAC.Info.AN=13998;ExAC.Info.AF=0.397;ExAC.Info.AC_Het=2611;ExAC.Info.AC_Hom=1130;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.43-6825T>C;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=ACADSB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADSB" target="_blank">ACADSB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358776;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.43T>C;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=ACADSB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADSB" target="_blank">ACADSB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358776;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.43T>C;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=ACADSB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADSB" target="_blank">ACADSB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358776;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358776;SAVANT_GENE=ACADSB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADSB" target="_blank">ACADSB</a>;SAVANT_INFO=+/49.3kb/11/5.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.43-6825T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACADSB+c.43-6825T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124787047">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,10:33:99:276,0,567:76	1|1:0,27:27:81:867,81,0:76	0|1:25,5:30:78:78,0,786:76
10	124812685	.	AT	A	32488.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=578;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=2-methylbutyrylglycinuria|_610006_(3);dbSNP139.ID=rs11307362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11307362" target="_blank">rs11307362</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1228+10delT;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=ACADSB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADSB" target="_blank">ACADSB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358776;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1229delT;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=ACADSB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADSB" target="_blank">ACADSB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358776;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1229delT;snpeff.Amino_Acid_length=432;snpeff.Gene_Name=ACADSB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADSB" target="_blank">ACADSB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358776;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000358776;SAVANT_GENE=ACADSB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADSB" target="_blank">ACADSB</a>;SAVANT_INFO=+/49.3kb/11/5.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1228+21delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACADSB+c.1228+21delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:124812685">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,173:173:99:4760,521,0:127	1|1:0,198:198:99:5366,594,0:127	1|1:1,206:207:99:5569,593,0:127
10	125426412	.	A	G	1418.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12263344;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12263344" target="_blank">rs12263344</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=72822;ExAC.Info.AN=125706;ExAC.Info.AF=0.579;ExAC.Info.AC_Het=28215;ExAC.Info.AC_Hom=20294;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.489A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=GPR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR26" target="_blank">GPR26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284674;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro163Pro/c.489A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=GPR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR26" target="_blank">GPR26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284674;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284674;SAVANT_GENE=GPR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR26" target="_blank">GPR26</a>;SAVANT_INFO=+/28.3kb/3/7.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.489A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR26+c.489A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125426412">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1188:80	0|1:26,25:51:99:726,0,763:80	0|0:27,0:27:81:0,81,984:80
10	125426565	.	G	C	17105.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4980313;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4980313" target="_blank">rs4980313</a>;ExAC.Info.AC=125798;ExAC.Info.AN=125830;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=7;ExAC.Info.AC_Hom=49519;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642G>C;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=GPR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR26" target="_blank">GPR26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284674;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642G>C;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=GPR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR26" target="_blank">GPR26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284674;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu214Leu/c.642G>C;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=GPR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR26" target="_blank">GPR26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284674;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284674;SAVANT_GENE=GPR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR26" target="_blank">GPR26</a>;SAVANT_INFO=+/28.3kb/3/7.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.642G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR26+c.642G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125426565">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2287,213,0:127	1|1:0,88:88:99:2907,264,0:127	1|1:0,51:51:99:1587,153,0:127
10	125447705	.	A	G	3056.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1878166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1878166" target="_blank">rs1878166</a>;ExAC.Info.AC=23467;ExAC.Info.AN=126590;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=17213;ExAC.Info.AC_Hom=2425;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=29;snpeff.Amino_Acid_Change=c.*29A>G;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=GPR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR26" target="_blank">GPR26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284674;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284674;SAVANT_GENE=GPR26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR26" target="_blank">GPR26</a>;SAVANT_INFO=+/28.3kb/3/7.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*29A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR26+c.*29A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125447705">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,217,2504:127	0|1:33,51:84:99:1547,0,857:127	0|0:99,0:99:99:0,297,3333:127
10	125472862	.	A	G	2840.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2114678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2114678" target="_blank">rs2114678</a>;ExAC.Info.AC=1889;ExAC.Info.AN=20438;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=1540;ExAC.Info.AC_Hom=119;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPXM2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125472862">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2512:127	0|0:64,0:64:99:0,192,2194:127	0|1:28,46:74:99:1439,0,761:127
10	125521533	.	G	A	13110.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs10794566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794566" target="_blank">rs10794566</a>;ExAC.Info.AC=89636;ExAC.Info.AN=126690;ExAC.Info.AF=0.708;ExAC.Info.AC_Het=24842;ExAC.Info.AC_Hom=32352;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp544Asp/c.1632C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241305;SAVANT_GENE=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;SAVANT_INFO=-/146.2kb/14/3.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1632C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPXM2+c.1632C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125521533">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,52:94:99:1412,0,1103:127	1|1:0,122:122:99:4048,365,0:127	0|0:76,0:76:99:0,228,2545:127
10	125521590	.	G	A	13447.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs10794567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794567" target="_blank">rs10794567</a>;ExAC.Info.AC=91480;ExAC.Info.AN=126700;ExAC.Info.AF=0.722;ExAC.Info.AC_Het=24444;ExAC.Info.AC_Hom=33469;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr525Tyr/c.1575C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241305;SAVANT_GENE=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;SAVANT_INFO=-/146.2kb/14/3.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1575C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPXM2+c.1575C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125521590">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,47:82:99:1263,0,960:127	1|1:0,132:132:99:4575,396,0:127	0|0:91,0:91:99:0,273,3168:127
10	125521721	.	G	A	6832.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10751743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10751743" target="_blank">rs10751743</a>;ExAC.Info.AC=109013;ExAC.Info.AN=126632;ExAC.Info.AF=0.861;ExAC.Info.AC_Het=14250;ExAC.Info.AC_Hom=46251;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1480-36C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241305;SAVANT_GENE=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;SAVANT_INFO=-/146.2kb/14/3.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1480-36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPXM2+c.1480-36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125521721">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,16:36:99:439,0,627:127	1|1:0,56:56:99:1951,168,0:127	0|1:23,21:44:99:611,0,613:127
10	125528048	.	G	A	3102.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1219725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1219725" target="_blank">rs1219725</a>;ExAC.Info.AC=50852;ExAC.Info.AN=126680;ExAC.Info.AF=0.401;ExAC.Info.AC_Het=28691;ExAC.Info.AC_Hom=10938;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr431Tyr/c.1293C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241305;SAVANT_GENE=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;SAVANT_INFO=-/146.2kb/14/3.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1293C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPXM2+c.1293C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125528048">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,17:38:99:461,0,581:127	0|0:60,0:60:99:0,180,1981:127	1|0:25,26:51:99:792,0,627:127
10	125602021	.	C	T	4123.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10794571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794571" target="_blank">rs10794571</a>;ExAC.Info.AC=27610;ExAC.Info.AN=126678;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=20825;ExAC.Info.AC_Hom=3280;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.514-17G>A;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514C>T;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241305;SAVANT_GENE=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;SAVANT_INFO=-/146.2kb/14/3.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.514-17G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPXM2+c.514-17G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125602021">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,44:74:99:1304,0,779:127	1|0:40,27:67:99:779,0,1175:127	0|0:58,0:58:99:0,174,2087:127
10	125622250	.	CA	C	15051.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11299200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11299200" target="_blank">rs11299200</a>;ExAC.Info.AC=99347;ExAC.Info.AN=126700;ExAC.Info.AF=0.784;ExAC.Info.AC_Het=20605;ExAC.Info.AC_Hom=39213;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.404-12delT;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404delA;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404delA;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404delA;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404delA;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:F5/8_type_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404delA;snpeff.Amino_Acid_length=756;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241305;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000241305;SAVANT_GENE=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;SAVANT_INFO=-/146.2kb/14/3.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.404-12delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPXM2+c.404-12delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125622250">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,69:130:99:2072,0,1781:127	1|1:0,133:133:99:4738,400,0:127	0|0:116,0:116:99:0,349,4134:127
10	125673492	.	A	G	17708.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7893288;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7893288" target="_blank">rs7893288</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.164+53T>C;snpeff.Gene_Name=RP11-285A18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000435782;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPXM2" target="_blank">CPXM2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPXM2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125673492">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1825,171,0:127	1|1:0,84:84:99:2783,252,0:127	1|1:0,67:67:99:2201,201,0:127
10	125673547	.	T	G	19368.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4329614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4329614" target="_blank">rs4329614</a>;ExAC.Info.AC=65523;ExAC.Info.AN=120446;ExAC.Info.AF=0.544;ExAC.Info.AC_Het=18578;ExAC.Info.AC_Hom=12706;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.162A>C;snpeff.Gene_Name=RP11-285A18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-285A182" target="_blank">RP11-285A182</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000435782;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-285A182" target="_blank">RP11-285A182</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.162A>C;snpeff.Gene_Name=RP11-285A18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-285A182" target="_blank">RP11-285A182</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000435782;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-285A182" target="_blank">RP11-285A182</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-285A182+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125673547">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2331,177,0:127	1|1:0,71:71:99:2907,217,0:127	1|1:0,73:73:99:2612,219,0:127
10	125673558	.	A	G	3533.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72829726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72829726" target="_blank">rs72829726</a>;ExAC.Info.AC=648;ExAC.Info.AN=122882;ExAC.Info.AF=5.273e-03;ExAC.Info.AC_Het=447;ExAC.Info.AC_Hom=6;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.151T>C;snpeff.Gene_Name=RP11-285A18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-285A182" target="_blank">RP11-285A182</a>;snpeff.Transcript_BioType=sense_intronic;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000435782;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CPXM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-285A182" target="_blank">RP11-285A182</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-285A182" target="_blank">RP11-285A182</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-285A182+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125673558">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,25:51:99:768,0,773:127	1|0:49,29:78:99:737,0,1532:127	0|0:76,0:76:99:0,228,2690:127
10	125780752	.	CGG	C	914.3	VQSRTrancheINDEL99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=70;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./0;cosmic68.Histology_subtype=adenocarcinoma;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1347+18_1347+19delCC;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348_1349delGG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348_1349delGG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348_1349delGG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348_1349delGG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348_1349delGG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348_1349delGG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348_1349delGG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000346248;SAVANT_GENE=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;SAVANT_INFO=-/84.8kb/8/4.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1347+18_1347+19delCC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST15+c.1347+18_1347+19delCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125780752">View</a>	GT:AD:DP:GQ:PL	./0:15,7:34:77:270,110,670	./0:16,2:21:36:36,50,599	0/1:10,4:15:40:70,0,290
10	125780752	.	CGG	CG	914.3	VQSRTrancheINDEL99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=70;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1347+18delC;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348delG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348delG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348delG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348delG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348delG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348delG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1348delG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000346248;SAVANT_GENE=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;SAVANT_INFO=-/84.8kb/8/4.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1347+19delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST15+c.1347+19delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125780752">View</a>	GT:AD:DP:GQ:PL	0/1:15,12:34:77:270,0,137	0/1:16,3:21:36:36,0,283	./0:10,1:15:40:70,40,146
10	125798111	.	T	C	2669.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs28375663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28375663" target="_blank">rs28375663</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=18570;ExAC.Info.AN=126702;ExAC.Info.AF=0.147;ExAC.Info.AC_Het=15389;ExAC.Info.AC_Hom=1585;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1110T>C;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1110T>C;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1110T>C;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1110T>C;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1110T>C;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1110T>C;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1110T>C;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro370Pro/c.1110A>G;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346248;SAVANT_GENE=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;SAVANT_INFO=-/84.8kb/8/4.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1110A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST15+c.1110A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125798111">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2427:127	0|1:49,49:98:99:1352,0,1429:127	0|0:60,0:60:99:0,180,2017:127
10	125801809	.	C	A	6594.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs28716482;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28716482" target="_blank">rs28716482</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=35114;ExAC.Info.AN=126698;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=24318;ExAC.Info.AC_Hom=5386;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1033+8G>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034C>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1034G>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435907;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000346248;SAVANT_GENE=CHST15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST15" target="_blank">CHST15</a>;SAVANT_INFO=-/84.8kb/8/4.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.1033+8G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST15+c.1033+8G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:125801809">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1140,96,0:96	1|0:28,26:54:99:781,0,863:96	1|0:17,16:33:99:512,0,546:96
10	126089434	.	G	A	3986.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Gyrate_atrophy_of_choroid_and_retina_with_or_without_ornithinemia|_258870_(3);dbSNP139.ID=rs11461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11461" target="_blank">rs11461</a>;ExAC.Info.AC=52767;ExAC.Info.AN=126680;ExAC.Info.AF=0.417;ExAC.Info.AC_Het=28861;ExAC.Info.AC_Hom=11757;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000000184;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1134G>A;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368845;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn378Asn/c.1134C>T;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368845;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368845;SAVANT_GENE=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;SAVANT_INFO=-/21.6kb/10/2.0kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1134C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OAT+c.1134C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126089434">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000184" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,291,3238:127	0|1:87,68:155:99:2012,0,2494:127	0|0:128,0:128:99:0,384,4367:127
10	126093991	.	T	C	45971.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=607;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Gyrate_atrophy_of_choroid_and_retina_with_or_without_ornithinemia|_258870_(3);dbSNP139.ID=rs9422807;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9422807" target="_blank">rs9422807</a>;ExAC.Info.AC=108051;ExAC.Info.AN=126702;ExAC.Info.AF=0.853;ExAC.Info.AC_Het=15552;ExAC.Info.AC_Hom=46235;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.648+14A>G;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368845;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.649T>C;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368845;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.649T>C;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368845;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368845;SAVANT_GENE=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;SAVANT_INFO=-/21.6kb/10/2.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.648+14A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OAT+c.648+14A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126093991">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,163:163:99:5335,490,0:127	1|1:0,237:237:99:8013,712,0:127	1|1:0,207:207:99:6937,622,0:127
10	126100523	.	G	A	20704.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Gyrate_atrophy_of_choroid_and_retina_with_or_without_ornithinemia|_258870_(3);dbSNP139.ID=rs10794058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794058" target="_blank">rs10794058</a>;ExAC.Info.AC=35005;ExAC.Info.AN=126704;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=24927;ExAC.Info.AC_Hom=5031;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.199+19C>T;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368845;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200G>A;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368845;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200G>A;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368845;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368845;SAVANT_GENE=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;SAVANT_INFO=-/21.6kb/10/2.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.199+19C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OAT+c.199+19C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126100523">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3586,321,0:127	1|0:56,63:119:99:1762,0,1537:127	1|1:0,103:103:99:3709,310,0:127
10	126100850	.	T	C	21387.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Gyrate_atrophy_of_choroid_and_retina_with_or_without_ornithinemia|_258870_(3);dbSNP139.ID=rs2674340;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2674340" target="_blank">rs2674340</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-29-81A>G;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368845;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368845;SAVANT_GENE=OAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OAT" target="_blank">OAT</a>;SAVANT_INFO=-/21.6kb/10/2.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-110A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OAT+c.-110A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126100850">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3519,309,0:127	1|1:0,130:130:99:4422,390,0:127	1|1:0,81:81:99:2695,243,0:127
10	126150388	.	C	A	2986.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=56;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2491156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2491156" target="_blank">rs2491156</a>;ExAC.Info.AC=36593;ExAC.Info.AN=57342;ExAC.Info.AF=0.638;ExAC.Info.AC_Het=706;ExAC.Info.AC_Hom=1645;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2491156" target="_blank">rs2491156</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126150388">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,6:17:99:171,0,386:44	1|1:0,24:24:72:908,72,0:44	0|0:15,0:15:45:0,45,573:44
10	126172863	.	A	G	5003.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6597801;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6597801" target="_blank">rs6597801</a>;ExAC.Info.AC=111890;ExAC.Info.AN=126686;ExAC.Info.AF=0.883;ExAC.Info.AC_Het=12622;ExAC.Info.AC_Hom=49488;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.281A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=LHPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHPP" target="_blank">LHPP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln94Arg/c.281A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=LHPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHPP" target="_blank">LHPP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368842;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368842;SAVANT_GENE=LHPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHPP" target="_blank">LHPP</a>;SAVANT_INFO=+/152.3kb/7/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.281A>G_p.Gln94Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LHPP+c.281A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126172863">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,20:48:99:560,0,716:127	0/1:27,26:53:99:686,0,779:127	0/1:21,20:41:99:593,0,604:127
10	126185618	.	A	G	5765.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3824810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824810" target="_blank">rs3824810</a>;ExAC.Info.AC=91765;ExAC.Info.AN=126700;ExAC.Info.AF=0.724;ExAC.Info.AC_Het=24979;ExAC.Info.AC_Hom=33332;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.531+25A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=LHPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHPP" target="_blank">LHPP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368842;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=LHPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHPP" target="_blank">LHPP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368842;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.532A>G;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=LHPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHPP" target="_blank">LHPP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368842;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368842;SAVANT_GENE=LHPP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LHPP" target="_blank">LHPP</a>;SAVANT_INFO=+/152.3kb/7/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.531+25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LHPP+c.531+25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126185618">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,40:66:99:1171,0,690:127	1|0:32,40:72:99:1240,0,730:127	0|0:75,0:75:99:0,225,2460:127
10	126395123	.	T	C	16822.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7897256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7897256" target="_blank">rs7897256</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.707+2223T>C;snpeff.Gene_Name=RP11-464O2.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-464O22" target="_blank">RP11-464O22</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000448422;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.*275+82A>G;snpeff.Gene_Name=RP11-12J10.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-464O22" target="_blank">RP11-464O22</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000494792;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.78+82A>G;snpeff.Amino_Acid_length=422;snpeff.Gene_Name=FAM53B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-464O22" target="_blank">RP11-464O22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337318;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337318;SAVANT_GENE=FAM53B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM53B" target="_blank">FAM53B</a>;SAVANT_INFO=-/124.8kb/5/5.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.78+82A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM53B+c.78+82A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126395123">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2202,195,0:127	1|1:0,75:75:99:2510,225,0:127	1|1:0,56:56:99:1913,168,0:127
10	126480381	.	C	T	3863.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs144443222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144443222" target="_blank">rs144443222</a>;ExAC.Info.AC=14720;ExAC.Info.AN=118724;ExAC.Info.AF=0.124;ExAC.Info.AC_Het=9108;ExAC.Info.AC_Hom=902;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly8Ser/c.22G>A;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=METTL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL10" target="_blank">METTL10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368836;SAVANT_GENE=METTL10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=METTL10" target="_blank">METTL10</a>;SAVANT_INFO=-/31.9kb/7/1.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.22G>A_p.Gly8Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=METTL10+c.22G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126480381">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,20:34:99:580,0,348:88	0|0:31,0:31:93:0,93,939:88	1|1:0,30:30:90:983,90,0:88
10	126517989	.	G	A	25381.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=561;MQ=69.99;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2303611;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2303611" target="_blank">rs2303611</a>;ExAC.Info.AC=69939;ExAC.Info.AN=126702;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=29779;ExAC.Info.AC_Hom=20057;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val202Val/c.606G>A;snpeff.Amino_Acid_length=415;snpeff.Gene_Name=FAM175B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM175B" target="_blank">FAM175B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298492;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298492;SAVANT_GENE=FAM175B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM175B" target="_blank">FAM175B</a>;SAVANT_INFO=+/34.9kb/9/3.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.606G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM175B+c.606G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126517989">View</a>	GT:AD:DP:GQ:PL:TP	1|0:89,83:172:99:2093,0,2447:127	0|1:94,110:204:99:3076,0,2748:127	1|1:0,185:185:99:6261,556,0:127
10	126670356	.	G	A	6903.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17152433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17152433" target="_blank">rs17152433</a>;ExAC.Info.AC=23389;ExAC.Info.AN=126702;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=17900;ExAC.Info.AC_Hom=2734;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:OTU];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:OTU];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:OTU];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:OTU];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:TRAF-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:TRAF-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:TRAF-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:TRAF-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:TRAF-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:TRAF-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln502Gln/c.1506G>A;snpeff.Amino_Acid_length=708;snpeff.Gene_Name=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359653;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359653;SAVANT_GENE=ZRANB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZRANB1" target="_blank">ZRANB1</a>;SAVANT_INFO=+/46.1kb/9/5.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1506G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZRANB1+c.1506G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126670356">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,40:86:99:1112,0,1267:127	1|0:51,54:105:99:1526,0,1538:127	0|0:106,0:106:99:0,319,3900:127
10	126686762	.	C	T	2172.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72828989;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72828989" target="_blank">rs72828989</a>;ExAC.Info.AC=10682;ExAC.Info.AN=124572;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=6021;ExAC.Info.AC_Hom=382;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1979-23G>A;snpeff.Amino_Acid_length=985;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309035;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309035;SAVANT_GENE=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;SAVANT_INFO=-/39.0kb/9/3.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1979-23G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTBP2+c.1979-23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126686762">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2099:127	0|1:52,40:92:99:1105,0,1394:127	0|0:67,0:67:99:0,201,2083:127
10	126692066	.	C	A	1257.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs750600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=750600" target="_blank">rs750600</a>;ExAC.Info.AC=9573;ExAC.Info.AN=124734;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=8153;ExAC.Info.AC_Hom=434;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1679-5G>T;snpeff.Amino_Acid_length=985;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1679G>T;snpeff.Amino_Acid_length=985;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309035;SAVANT_GENE=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;SAVANT_INFO=-/39.0kb/9/3.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.1679-5G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTBP2+c.1679-5G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126692066">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,998:80	0|1:19,21:40:99:647,0,595:80	0|0:36,0:36:99:0,108,1334:80
10	126714714	.	G	C	1158.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2946994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2946994" target="_blank">rs2946994</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=60828;ExAC.Info.AN=126558;ExAC.Info.AF=0.481;ExAC.Info.AC_Het=30305;ExAC.Info.AC_Hom=15021;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln539Glu/c.1615C>G;snpeff.Amino_Acid_length=985;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309035;SAVANT_GENE=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;SAVANT_INFO=-/39.0kb/9/3.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1615C>G_p.Gln539Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTBP2+c.1615C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126714714">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1311:104	0|0:63,0:63:99:0,189,2217:104	0|1:25,21:46:99:598,0,716:104
10	126714966	.	A	G	1087.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3012075;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3012075" target="_blank">rs3012075</a>;ExAC.Info.AC=60223;ExAC.Info.AN=126520;ExAC.Info.AF=0.476;ExAC.Info.AC_Het=29912;ExAC.Info.AC_Hom=14750;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Cac;snpeff.Amino_Acid_Change=p.Tyr455His/c.1363T>C;snpeff.Amino_Acid_length=985;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309035;SAVANT_GENE=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;SAVANT_INFO=-/39.0kb/9/3.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1363T>C_p.Tyr455His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTBP2+c.1363T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126714966">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1573:127	0|0:54,0:54:99:0,162,1825:127	0|1:22,20:42:99:562,0,588:127
10	126715075	.	T	C	574.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3781413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3781413" target="_blank">rs3781413</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=16090;ExAC.Info.AN=125872;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=11911;ExAC.Info.AC_Hom=1039;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala418Ala/c.1254A>G;snpeff.Amino_Acid_length=985;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309035;SAVANT_GENE=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;SAVANT_INFO=-/39.0kb/9/3.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1254A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTBP2+c.1254A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126715075">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,815:74	0|1:18,11:29:99:306,0,456:74	0|0:39,0:39:99:0,117,1330:74
10	126715154	.	A	G	6158.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3781412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3781412" target="_blank">rs3781412</a>;ExAC.Info.AC=33518;ExAC.Info.AN=112866;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=8229;ExAC.Info.AC_Hom=2260;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu392Pro/c.1175T>C;snpeff.Amino_Acid_length=985;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309035;SAVANT_GENE=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;SAVANT_INFO=-/39.0kb/9/3.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1175T>C_p.Leu392Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTBP2+c.1175T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126715154">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:944,87,0:59	1|1:0,20:20:60:697,60,0:59	1|0:17,27:44:99:735,0,484:59
10	126715159	.	A	AGCCGCAGGCTGGGGCTGCAGG	1045.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ExAC.Info.AC=8878;ExAC.Info.AN=117484;ExAC.Info.AF=0.076;ExAC.Info.AC_Het=2916;ExAC.Info.AC_Hom=167;snpeff.Effect=disruptive_inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gct/gcCCTGCAGCCCCAGCCTGCGGCt;snpeff.Amino_Acid_Change=p.Ala390_Pro391insAlaLeuGlnProGlnProAlaAla/c.1169_1170insCCTGCAGCCCCAGCCTGCGGC;snpeff.Amino_Acid_length=985;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000309035;SAVANT_GENE=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;SAVANT_INFO=-/39.0kb/9/3.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1169_1170insCCTGCAGCCCCAGCCTGCGGC_p.Ala390_Pro391insLeuGlnProGlnProAlaAla;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTBP2+c.1169_1170insCCTGCAGCCCCAGCCTGCGGC+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126715159">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:76:0,76,1092:75	0|1:12,8:20:99:546,0,452:75	0|0:41,0:41:99:0,124,1833:75
10	126715436	.	C	T	2864.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3781411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3781411" target="_blank">rs3781411</a>;ExAC.Info.AC=17508;ExAC.Info.AN=126674;ExAC.Info.AF=0.138;ExAC.Info.AC_Het=14428;ExAC.Info.AC_Hom=1466;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg298Gln/c.893G>A;snpeff.Amino_Acid_length=985;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309035;SAVANT_GENE=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;SAVANT_INFO=-/39.0kb/9/3.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.893G>A_p.Arg298Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTBP2+c.893G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126715436">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,256,3048:127	0|1:57,48:105:99:1451,0,1747:127	0|0:74,0:74:99:0,222,2662:127
10	126715629	.	C	T	13180.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3781409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3781409" target="_blank">rs3781409</a>;ExAC.Info.AC=30024;ExAC.Info.AN=126660;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=22354;ExAC.Info.AC_Hom=3687;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val234Met/c.700G>A;snpeff.Amino_Acid_length=985;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309035;SAVANT_GENE=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;SAVANT_INFO=-/39.0kb/9/3.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.700G>A_p.Val234Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTBP2+c.700G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126715629">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2303,204,0:127	1|0:54,52:106:99:1545,0,1820:127	1|0:27,31:58:99:949,0,878:127
10	126716346	.	C	T	2106.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2938006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2938006" target="_blank">rs2938006</a>;ExAC.Info.AC=53268;ExAC.Info.AN=121472;ExAC.Info.AF=0.439;ExAC.Info.AC_Het=13817;ExAC.Info.AC_Hom=6630;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=18;snpeff.Amino_Acid_Change=c.-18G>A;snpeff.Amino_Acid_length=985;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309035;SAVANT_GENE=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;SAVANT_INFO=-/39.0kb/9/3.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-18G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTBP2+c.-18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126716346">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1749:127	0|0:83,1:84:99:0,213,2672:127	0|1:25,35:60:99:1072,0,681:127
10	126721441	.	C	A	1244.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2839737;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2839737" target="_blank">rs2839737</a>;ExAC.Info.AC=2043;ExAC.Info.AN=7612;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=449;ExAC.Info.AC_Hom=197;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CTBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTBP2" target="_blank">CTBP2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTBP2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:126721441">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1677:127	0|0:49,0:49:99:0,147,1796:127	0|1:24,23:47:99:641,0,745:127
10	127426430	.	A	G	17035.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3740181;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740181" target="_blank">rs3740181</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1759-57A>G;snpeff.Amino_Acid_length=1238;snpeff.Gene_Name=C10orf137;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf137" target="_blank">C10orf137</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356792;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356792;SAVANT_GENE=C10orf137;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf137" target="_blank">C10orf137</a>;SAVANT_INFO=+/44.1kb/25/4.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1759-57A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf137+c.1759-57A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127426430">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:3278,259,0:127	1|1:1,81:82:99:3086,208,0:127	1|0:36,40:76:99:1335,0,1105:127
10	127426588	.	C	A	20925.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3740180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740180" target="_blank">rs3740180</a>;ExAC.Info.AC=93366;ExAC.Info.AN=126702;ExAC.Info.AF=0.737;ExAC.Info.AC_Het=23084;ExAC.Info.AC_Hom=35093;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1830+30C>A;snpeff.Amino_Acid_length=1238;snpeff.Gene_Name=C10orf137;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf137" target="_blank">C10orf137</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356792;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356792;SAVANT_GENE=C10orf137;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf137" target="_blank">C10orf137</a>;SAVANT_INFO=+/44.1kb/25/4.1kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1830+30C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf137+c.1830+30C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127426588">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2828,223,0:127	1|1:0,110:110:99:4097,330,0:127	1|0:61,59:120:99:1800,0,1666:127
10	127436411	.	T	C	41543.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=621;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2296832;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296832" target="_blank">rs2296832</a>;ExAC.Info.AC=91832;ExAC.Info.AN=126704;ExAC.Info.AF=0.725;ExAC.Info.AC_Het=23514;ExAC.Info.AC_Hom=34147;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-383C5.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-383C57" target="_blank">RP11-383C57</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2974-21T>C;snpeff.Amino_Acid_length=1238;snpeff.Gene_Name=C10orf137;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-383C57" target="_blank">RP11-383C57</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356792;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356792;SAVANT_GENE=C10orf137;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf137" target="_blank">C10orf137</a>;SAVANT_INFO=+/44.1kb/25/4.1kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2974-21T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf137+c.2974-21T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127436411">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,188:188:99:6745,565,0:127	1|1:0,242:242:99:8539,727,0:127	1|0:95,96:191:99:2743,0,2444:127
10	127460753	.	G	A	3052.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7922546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7922546" target="_blank">rs7922546</a>;ExAC.Info.AC=42003;ExAC.Info.AN=126692;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=27272;ExAC.Info.AC_Hom=7314;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.979+34C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=MMP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP21" target="_blank">MMP21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368808;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368808;SAVANT_GENE=MMP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP21" target="_blank">MMP21</a>;SAVANT_INFO=-/9.4kb/7/1.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.979+34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP21+c.979+34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127460753">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,13:26:99:373,0,332:60	1|0:18,20:38:99:662,0,535:60	0|0:20,0:20:60:0,60,743:60
10	127462525	.	A	G	15118.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10901425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10901425" target="_blank">rs10901425</a>;ExAC.Info.AC=89718;ExAC.Info.AN=117682;ExAC.Info.AF=0.762;ExAC.Info.AC_Het=17849;ExAC.Info.AC_Hom=31058;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val191Ala/c.572T>C;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=MMP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP21" target="_blank">MMP21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368808;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368808;SAVANT_GENE=MMP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP21" target="_blank">MMP21</a>;SAVANT_INFO=-/9.4kb/7/1.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.572T>C_p.Val191Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP21+c.572T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127462525">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1753,150,0:127	1|1:0,66:66:99:2421,198,0:127	1|0:40,34:74:99:979,0,1159:127
10	127462833	.	C	T	2802.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs28381281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28381281" target="_blank">rs28381281</a>;ExAC.Info.AC=5296;ExAC.Info.AN=42766;ExAC.Info.AF=0.124;ExAC.Info.AC_Het=1060;ExAC.Info.AC_Hom=171;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.264C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=MMP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP21" target="_blank">MMP21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368808;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.264C>T;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=MMP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP21" target="_blank">MMP21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368808;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala88Ala/c.264G>A;snpeff.Amino_Acid_length=569;snpeff.Gene_Name=MMP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP21" target="_blank">MMP21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368808;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368808;SAVANT_GENE=MMP21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP21" target="_blank">MMP21</a>;SAVANT_INFO=-/9.4kb/7/1.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.264G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP21+c.264G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127462833">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,11:22:99:357,0,318:127	0/1:8,19:27:99:568,0,243:127	0/1:8,5:13:99:158,0,250:127
10	127483573	.	G	A	5075.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Porphyria|_congenital_erythropoietic|_263700_(3)|Porphyria|_congenital_erythropoietic|_263700_(3);dbSNP139.ID=rs3740179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740179" target="_blank">rs3740179</a>;ExAC.Info.AC=51930;ExAC.Info.AN=126698;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=29597;ExAC.Info.AC_Hom=11094;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.562-26C>T;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=UROS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROS" target="_blank">UROS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368786;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368797;SAVANT_GENE=UROS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROS" target="_blank">UROS</a>;SAVANT_INFO=-/34.7kb/10/1.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.562-26C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UROS+c.562-26C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127483573">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,39:68:99:1113,0,810:127	0|0:71,0:71:99:0,213,2590:127	1|0:29,31:60:99:899,0,841:127
10	127484653	.	G	A	5693.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Porphyria|_congenital_erythropoietic|_263700_(3)|Porphyria|_congenital_erythropoietic|_263700_(3);dbSNP139.ID=rs2281954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281954" target="_blank">rs2281954</a>;ExAC.Info.AC=51868;ExAC.Info.AN=126704;ExAC.Info.AF=0.409;ExAC.Info.AC_Het=29528;ExAC.Info.AC_Hom=11169;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.561+19C>T;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=UROS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROS" target="_blank">UROS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368786;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368797;SAVANT_GENE=UROS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROS" target="_blank">UROS</a>;SAVANT_INFO=-/34.7kb/10/1.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.561+19C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UROS+c.561+19C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127484653">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,49:92:99:1458,0,1295:127	0|0:108,0:108:99:0,324,3678:127	1|0:46,35:81:99:970,0,1407:127
10	127504660	.	A	G	25716.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Porphyria|_congenital_erythropoietic|_263700_(3)|Porphyria|_congenital_erythropoietic|_263700_(3);dbSNP139.ID=rs2366044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2366044" target="_blank">rs2366044</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.147+86T>C;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=UROS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROS" target="_blank">UROS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368786;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.148A>G;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=UROS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROS" target="_blank">UROS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368786;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.148A>G;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=UROS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROS" target="_blank">UROS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368786;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368797;SAVANT_GENE=UROS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UROS" target="_blank">UROS</a>;SAVANT_INFO=-/34.7kb/10/1.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.147+86T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UROS+c.147+86T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127504660">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3465,286,0:127	1|1:0,112:112:99:4170,336,0:127	1|1:0,91:91:99:3393,274,0:127
10	127516215	.	G	A	4350.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17153600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17153600" target="_blank">rs17153600</a>;ExAC.Info.AC=883;ExAC.Info.AN=126702;ExAC.Info.AF=6.969e-03;ExAC.Info.AC_Het=869;ExAC.Info.AC_Hom=6;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.321+8G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCCIP" target="_blank">BCCIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368759;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_BRCA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.322G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCCIP" target="_blank">BCCIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368759;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_BRCA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.322G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCCIP" target="_blank">BCCIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368759;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_BRCA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.322G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCCIP" target="_blank">BCCIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368759;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_BRCA2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.322G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCCIP" target="_blank">BCCIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368759;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.322G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCCIP" target="_blank">BCCIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368759;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368759;SAVANT_GENE=BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCCIP" target="_blank">BCCIP</a>;SAVANT_INFO=+/30.2kb/8/1.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.321+8G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BCCIP+c.321+8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127516215">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,35:73:99:981,0,965:127	0|0:101,0:101:99:0,303,3519:127	1|0:41,27:68:99:786,0,1214:127
10	127529756	.	T	TTG	4323.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs146907010;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146907010" target="_blank">rs146907010</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1544-191_1544-192insCA;snpeff.Amino_Acid_length=743;snpeff.Gene_Name=DHX32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHX32" target="_blank">DHX32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284690;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.775-67_775-66insTG;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHX32" target="_blank">DHX32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368759;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000284690:ENST00000368759;SAVANT_GENE=DHX32:BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHX32:BCCIP" target="_blank">DHX32:BCCIP</a>;SAVANT_INFO=-/45.0kb/11/3.1kb:+/30.2kb/8/1.4kb;SAVANT_LOC=In7/8:In6/7;SAVANT_HGVS=c.1544-193_1544-192dupCA:c.775-56_775-55dupGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHX32:BCCIP+c.1544-193_1544-192dupCA:c.775-56_775-55dupGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127529756">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,329,4115:127	0|1:79,68:147:99:2185,0,2550:127	0|0:104,0:104:99:0,313,3969:127
10	127530325	.	T	C	10625.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=528;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3208565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3208565" target="_blank">rs3208565</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=54810;ExAC.Info.AN=126696;ExAC.Info.AF=0.433;ExAC.Info.AC_Het=29751;ExAC.Info.AC_Hom=12458;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.850+426T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCCIP" target="_blank">BCCIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368759;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala510Ala/c.1530A>G;snpeff.Amino_Acid_length=743;snpeff.Gene_Name=DHX32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCCIP" target="_blank">BCCIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284690;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284690:ENST00000368759;SAVANT_GENE=DHX32:BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHX32:BCCIP" target="_blank">DHX32:BCCIP</a>;SAVANT_INFO=-/45.0kb/11/3.1kb:+/30.2kb/8/1.4kb;SAVANT_LOC=Ex7:In7/8;SAVANT_HGVS=c.1530A>G_p.=:c.850+426T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHX32:BCCIP+c.1530A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127530325">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,62:149:99:1773,0,2464:127	0|0:201,1:202:99:0,571,6934:127	1|0:94,83:177:99:2255,0,2694:127
10	127541603	.	T	C	4234.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=406;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs41305020;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41305020" target="_blank">rs41305020</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1093-392A>G;snpeff.Amino_Acid_length=743;snpeff.Gene_Name=DHX32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHX32" target="_blank">DHX32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000284690;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.851-91T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHX32" target="_blank">DHX32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368759;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284690:ENST00000368759;SAVANT_GENE=DHX32:BCCIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DHX32:BCCIP" target="_blank">DHX32:BCCIP</a>;SAVANT_INFO=-/45.0kb/11/3.1kb:+/30.2kb/8/1.4kb;SAVANT_LOC=In4/5:In7/8;SAVANT_HGVS=c.1093-392A>G:c.851-91T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DHX32:BCCIP+c.1093-392A>G:c.851-91T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127541603">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,378,3997:127	0|1:76,75:151:99:2136,0,2022:127	0|0:129,0:129:99:0,387,4103:127
10	127585090	.	C	A	144.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=142;MQ=68.91;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs74635147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74635147" target="_blank">rs74635147</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74635147" target="_blank">rs74635147</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127585090">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,1:55:99:0,132,2369:50	0|1:50,6:56:91:91,0,2145:50	0|0:30,1:31:51:0,51,1350:50
10	127585097	.	T	C	126.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=145;MQ=69.19;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs78188902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78188902" target="_blank">rs78188902</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78188902" target="_blank">rs78188902</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127585097">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,172,2565:56	0|1:54,5:59:82:82,0,2291:56	0|0:32,1:33:57:0,57,1440:56
10	127585099	.	A	G	50.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=150;MQ=69.27;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs79920605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79920605" target="_blank">rs79920605</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79920605" target="_blank">rs79920605</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127585099">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,150,2666:43	0|1:54,5:59:44:44,0,2294:43	0|0:33,1:34:60:0,60,1485:43
10	127585112	.	T	C	160.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=174;MQ=68.70;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72832617;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72832617" target="_blank">rs72832617</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=100;snpeff.Amino_Acid_Change=c.-100T>C;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368693;SAVANT_GENE=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;SAVANT_INFO=+/113.1kb/11/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-100T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FANK1+c.-100T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127585112">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,2:71:99:0,148,3123:34	0|1:57,7:64:99:99,0,2579:34	0|0:37,2:39:34:0,34,1582:34
10	127585118	.	C	G	172.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=174;MQ=68.40;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=94;snpeff.Amino_Acid_Change=c.-94C>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368693;SAVANT_GENE=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;SAVANT_INFO=+/113.1kb/11/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-94C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FANK1+c.-94C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127585118">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,2:72:99:0,112,2966:31	0|1:57,8:65:99:105,0,2475:31	0|0:35,2:37:31:0,31,1537:31
10	127585120	.	G	C	184.77	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=168;MQ=68.45;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs80288044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80288044" target="_blank">rs80288044</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=92;snpeff.Amino_Acid_Change=c.-92G>C;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368693;SAVANT_GENE=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;SAVANT_INFO=+/113.1kb/11/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-92G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FANK1+c.-92G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127585120">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,3:71:99:0,112,2966:28	0|1:56,7:63:99:111,0,2391:28	0|0:32,2:34:28:0,28,1492:28
10	127585150	.	C	A	3443.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=201;MQ=67.47;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs74162870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74162870" target="_blank">rs74162870</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=62;snpeff.Amino_Acid_Change=c.-62C>A;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368693;SAVANT_GENE=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;SAVANT_INFO=+/113.1kb/11/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-62C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FANK1+c.-62C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127585150">View</a>	GT:AD:DP:GQ:PL:TP	0/1:69,22:91:99:505,0,2003:127	0/1:46,20:66:99:486,0,1401:127	0/1:33,11:44:99:270,0,1038:127
10	127585179	.	G	C	6549.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=206;MQ=67.34;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs74162871;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74162871" target="_blank">rs74162871</a>;ExAC.Info.AC=53906;ExAC.Info.AN=107324;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=29510;ExAC.Info.AC_Hom=887;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=33;snpeff.Amino_Acid_Change=c.-33G>C;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368693;SAVANT_GENE=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;SAVANT_INFO=+/113.1kb/11/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-33G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FANK1+c.-33G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127585179">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,34:87:99:899,0,1597:127	0/1:43,32:75:99:894,0,1280:127	0/1:29,15:44:99:453,0,956:127
10	127668317	.	G	A	6035.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11244744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11244744" target="_blank">rs11244744</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14-413G>A;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368693;SAVANT_GENE=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;SAVANT_INFO=+/113.1kb/11/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.14-413G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FANK1+c.14-413G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127668317">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,50:115:99:1298,0,1896:127	0|0:103,0:103:99:0,310,3868:127	1|0:60,39:99:99:1059,0,1875:127
10	127668431	.	A	G	11121.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=542;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11244745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11244745" target="_blank">rs11244745</a>;ExAC.Info.AC=8242;ExAC.Info.AN=23476;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=3830;ExAC.Info.AC_Hom=1469;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14-299A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368693;SAVANT_GENE=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;SAVANT_INFO=+/113.1kb/11/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.14-299A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FANK1+c.14-299A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127668431">View</a>	GT:AD:DP:GQ:PL:TP	1|0:100,66:166:99:1989,0,2804:127	0|0:200,0:200:99:0,601,6828:127	1|0:109,67:176:99:1807,0,3121:127
10	127668487	.	G	A	6141.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2176097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2176097" target="_blank">rs2176097</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.14-243G>A;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368693;SAVANT_GENE=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;SAVANT_INFO=+/113.1kb/11/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.14-243G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FANK1+c.14-243G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127668487">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,41:103:99:1178,0,1819:127	0|0:140,0:140:99:0,421,4870:127	1|0:78,32:110:99:810,0,2385:127
10	127668863	.	TGAA	T	5805.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=528;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs146106149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146106149" target="_blank">rs146106149</a>;ExAC.Info.AC=2469;ExAC.Info.AN=126704;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2412;ExAC.Info.AC_Hom=28;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.148_150delGAA;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.148_150delGAA;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.148_150delGAA;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gaa/;snpeff.Amino_Acid_Change=p.Glu50del/c.148_150delGAA;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368693;SAVANT_GENE=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;SAVANT_INFO=+/113.1kb/11/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.156_158delAGA_p.Glu52del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FANK1+c.156_158delAGA+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127668863">View</a>	GT:AD:DP:GQ:PL:TP	0|0:164,0:164:99:0,493,7636:127	0|1:111,78:189:99:2926,0,4611:127	0|0:175,0:175:99:0,526,8173:127
10	127685091	.	T	C	34123.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=698;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3736477;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736477" target="_blank">rs3736477</a>;ExAC.Info.AC=82829;ExAC.Info.AN=126698;ExAC.Info.AF=0.654;ExAC.Info.AC_Het=27735;ExAC.Info.AC_Hom=27624;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.399-28T>C;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399T>C;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399T>C;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368693;SAVANT_GENE=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;SAVANT_INFO=+/113.1kb/11/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.399-28T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FANK1+c.399-28T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127685091">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,195:195:99:6994,586,0:127	1|0:152,126:278:99:3619,0,4509:127	1|0:116,109:225:99:3276,0,3410:127
10	127693432	.	C	T	13666.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2138283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2138283" target="_blank">rs2138283</a>;ExAC.Info.AC=125828;ExAC.Info.AN=126698;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=864;ExAC.Info.AC_Hom=62397;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.540-21C>T;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540C>T;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540C>T;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368693;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368693;SAVANT_GENE=FANK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FANK1" target="_blank">FANK1</a>;SAVANT_INFO=+/113.1kb/11/1.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.540-21C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FANK1+c.540-21C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127693432">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1582,138,0:127	1|1:0,56:56:99:1996,168,0:127	1|1:0,59:59:99:2106,177,0:127
10	127708428	.	A	T	5481.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2138280;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2138280" target="_blank">rs2138280</a>;ExAC.Info.AC=75385;ExAC.Info.AN=124238;ExAC.Info.AF=0.607;ExAC.Info.AC_Het=19130;ExAC.Info.AC_Hom=17219;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2539-34T>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2539A>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2539-34T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.2539-34T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127708428">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:821,72,0:72	1|0:13,23:36:99:720,0,326:72	1|0:14,15:29:99:443,0,386:72
10	127724778	.	A	G	6878.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1044122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1044122" target="_blank">rs1044122</a>;ExAC.Info.AC=35073;ExAC.Info.AN=126688;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=24451;ExAC.Info.AC_Hom=5256;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2475A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2475A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2475A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2475A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2475A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala825Ala/c.2475T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2475T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.2475T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127724778">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,62:101:99:1834,0,1131:127	1|0:50,46:96:99:1368,0,1590:127	0|0:96,0:96:99:0,286,3275:127
10	127726933	.	CA	C	2561.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs55912492;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55912492" target="_blank">rs55912492</a>;ExAC.Info.AC=133;ExAC.Info.AN=126418;ExAC.Info.AF=1.052e-03;ExAC.Info.AC_Het=126;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2250-16delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2250delA;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2250delA;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2250delA;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2250delA;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2250delA;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2250-16delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.2250-16delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127726933">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,229,3075:127	0|1:39,38:77:99:1304,0,1350:127	0|0:54,0:54:99:0,162,2155:127
10	127727808	.	A	G	7021.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1278256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1278256" target="_blank">rs1278256</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2249+55T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2250A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2250A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2250A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2250A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2250A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2249+55T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.2249+55T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127727808">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,39:80:99:956,0,1202:127	1|0:60,63:123:99:1734,0,1608:127	0|0:71,0:71:99:0,213,2493:127
10	127738280	.	AT	A	13.13	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=91;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs199857907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199857907" target="_blank">rs199857907</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1619-43delA;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1619delT;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1619-43delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.1619-43delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127738280">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,104,908:25	0|1:23,4:27:30:30,0,535:25	0|0:26,3:29:27:0,27,637:25
10	127753388	.	C	T	3577.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2279091;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2279091" target="_blank">rs2279091</a>;ExAC.Info.AC=10955;ExAC.Info.AN=126562;ExAC.Info.AF=0.087;ExAC.Info.AC_Het=8716;ExAC.Info.AC_Hom=429;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1605C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr535Thr/c.1605G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1605G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.1605G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127753388">View</a>	GT:AD:DP:GQ:PL:TP	0/1:31,21:52:99:467,0,881:127	0/1:23,22:45:99:583,0,698:127	0/1:22,19:41:99:539,0,612:127
10	127753478	.	G	A	3682.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1278279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1278279" target="_blank">rs1278279</a>;ExAC.Info.AC=32935;ExAC.Info.AN=126662;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=22517;ExAC.Info.AC_Hom=4722;snpeff.Effect=sequence_feature[domain:Disintegrin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Disintegrin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Disintegrin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn505Asn/c.1515C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1515C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.1515C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127753478">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,315,3525:127	0|1:57,64:121:99:1860,0,1527:127	0|0:94,0:94:99:0,282,3076:127
10	127760309	.	T	C	5185.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2290841;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2290841" target="_blank">rs2290841</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1155-86A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1155T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1155-86A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.1155-86A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127760309">View</a>	GT:AD:DP:GQ:PL:TP	1|0:45,36:81:99:1043,0,1403:127	0|0:107,0:107:99:0,322,3853:127	1|0:31,30:61:99:903,0,934:127
10	127786969	.	A	G	16869.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=990;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2290842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2290842" target="_blank">rs2290842</a>;ExAC.Info.AC=88500;ExAC.Info.AN=126698;ExAC.Info.AF=0.699;ExAC.Info.AC_Het=25321;ExAC.Info.AC_Hom=31576;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1005+16T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1006A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1005+16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.1005+16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127786969">View</a>	GT:AD:DP:GQ:PL:TP	1|0:176,160:336:99:4391,0,4691:127	0|0:373,0:373:99:0,1121,12977:127	1|0:150,131:281:99:3670,0,4363:127
10	127843740	.	G	T	8046.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1466359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1466359" target="_blank">rs1466359</a>;ExAC.Info.AC=59426;ExAC.Info.AN=126686;ExAC.Info.AF=0.469;ExAC.Info.AC_Het=29691;ExAC.Info.AC_Hom=14795;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.348+47C>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.348+47C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.348+47C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127843740">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,50:122:99:1221,0,2150:127	0|0:180,0:180:99:0,541,6226:127	1|0:66,76:142:99:2054,0,1859:127
10	127843756	.	G	A	9592.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=501;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1466360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1466360" target="_blank">rs1466360</a>;ExAC.Info.AC=59702;ExAC.Info.AN=126692;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=29756;ExAC.Info.AC_Hom=14945;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.348+31C>T;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.348+31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.348+31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127843756">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,57:133:99:1561,0,2279:127	0|0:195,0:195:99:0,586,6842:127	1|0:85,88:173:99:2326,0,2384:127
10	127843921	.	T	C	5399.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1466361;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1466361" target="_blank">rs1466361</a>;ExAC.Info.AC=59375;ExAC.Info.AN=126674;ExAC.Info.AF=0.469;ExAC.Info.AC_Het=29598;ExAC.Info.AC_Hom=14559;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.261-47A>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.261T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.261T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.261T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.261T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.261T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.261T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.261T>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.261-47A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.261-47A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:127843921">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,32:69:99:1027,0,1090:127	0|0:102,0:102:99:0,307,3717:127	1|0:32,29:61:99:901,0,1037:127
10	128019025	.	C	G	31789.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=765;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740199;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740199" target="_blank">rs3740199</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Osteoarthritis_in_males|_association_with;hgmd_2014.2.OMIM_ID=602714;hgmd_2014.2.PubMed=19268722;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19268722" target="_blank">19268722</a>;ExAC.Info.AC=69886;ExAC.Info.AN=126704;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=30785;ExAC.Info.AC_Hom=19600;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.142C>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.142C>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.142C>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.142C>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.142C>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.142C>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.142C>G;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Cgg;snpeff.Amino_Acid_Change=p.Gly48Arg/c.142G>C;snpeff.Amino_Acid_length=909;snpeff.Gene_Name=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368679;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368679;SAVANT_GENE=ADAM12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM12" target="_blank">ADAM12</a>;SAVANT_INFO=-/376.1kb/23/7.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.142G>C_p.Gly48Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM12+c.142G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128019025">View</a>	GT:AD:DP:GQ:PL:TP	1|0:116,117:233:99:3306,0,3303:127	0|1:161,153:314:99:4410,0,4714:127	1|1:0,218:218:99:7516,654,0:127
10	128147884	.	C	A	7151.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7077404;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7077404" target="_blank">rs7077404</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2011-98G>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544758;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284694;SAVANT_GENE=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;SAVANT_INFO=-/96.4kb/9/3.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1720-98G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf90+c.1720-98G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128147884">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,57:125:99:1522,0,1827:127	0|0:134,0:134:99:0,403,4814:127	1|0:46,50:96:99:1418,0,1418:127
10	128147905	.	G	A	7427.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs55945416;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55945416" target="_blank">rs55945416</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2011-119C>T;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544758;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284694;SAVANT_GENE=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;SAVANT_INFO=-/96.4kb/9/3.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1720-119C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf90+c.1720-119C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128147905">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,45:110:99:1229,0,1895:127	0|0:139,0:139:99:0,418,4809:127	1|0:45,54:99:99:1596,0,1249:127
10	128148056	.	T	C	10425.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=482;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7098669;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7098669" target="_blank">rs7098669</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2011-270A>G;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544758;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284694;SAVANT_GENE=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;SAVANT_INFO=-/96.4kb/9/3.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1720-270A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf90+c.1720-270A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128148056">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,57:130:99:1612,0,2013:127	0|0:196,3:199:99:0,543,6671:127	1|0:85,68:153:99:1982,0,3300:127
10	128148067	.	C	T	4772.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=511;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72831225;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72831225" target="_blank">rs72831225</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2011-281G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544758;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284694;SAVANT_GENE=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;SAVANT_INFO=-/96.4kb/9/3.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1720-281G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf90+c.1720-281G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128148067">View</a>	GT:AD:DP:GQ:PL:TP	0|0:139,1:140:99:0,386,5234:127	0|0:213,1:214:99:0,603,7226:127	0|1:73,84:157:99:2405,0,2684:127
10	128192985	.	C	T	2336.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11245007;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11245007" target="_blank">rs11245007</a>;ExAC.Info.AC=47052;ExAC.Info.AN=126704;ExAC.Info.AF=0.371;ExAC.Info.AC_Het=27644;ExAC.Info.AC_Hom=9701;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp359Asn/c.1075G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544758;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284694;SAVANT_GENE=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;SAVANT_INFO=-/96.4kb/9/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.784G>A_p.Asp262Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf90+c.784G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128192985">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2698:127	0|0:108,1:109:99:0,289,4193:127	0|1:32,39:71:99:1187,0,972:127
10	128193368	.	C	T	2764.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11245008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11245008" target="_blank">rs11245008</a>;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg231His/c.692G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544758;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284694;SAVANT_GENE=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;SAVANT_INFO=-/96.4kb/9/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.401G>A_p.Arg134His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf90+c.401G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128193368">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,319,3656:127	0|0:115,0:115:99:0,346,4160:127	0|1:59,48:107:99:1401,0,1869:127
10	128202435	.	T	C	25047.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1436803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1436803" target="_blank">rs1436803</a>;ExAC.Info.AC=109178;ExAC.Info.AN=126702;ExAC.Info.AF=0.862;ExAC.Info.AC_Het=14903;ExAC.Info.AC_Hom=47120;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala129Ala/c.387A>G;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544758;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284694;SAVANT_GENE=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;SAVANT_INFO=-/96.4kb/9/3.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.96A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf90+c.96A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128202435">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,90:91:99:3018,263,0:127	1|1:0,120:120:99:3988,360,0:127	1|1:0,120:120:99:3902,360,0:127
10	128209769	.	T	C	6934.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2099552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2099552" target="_blank">rs2099552</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.314-7261A>G;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544758;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284694;SAVANT_GENE=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;SAVANT_INFO=-/96.4kb/9/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.22+99A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf90+c.22+99A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128209769">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1008,87,0:68	1|1:0,23:23:69:915,69,0:68	1|1:0,34:34:99:1170,102,0:68
10	128209797	.	C	T	7583.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2099553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2099553" target="_blank">rs2099553</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.314-7289G>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544758;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284694;SAVANT_GENE=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;SAVANT_INFO=-/96.4kb/9/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.22+71G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf90+c.22+71G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128209797">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1116,99,0:89	1|1:0,30:30:90:1068,90,0:89	1|1:0,34:34:99:1161,102,0:89
10	128209959	.	G	T	7895.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4962342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4962342" target="_blank">rs4962342</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.314-7451C>A;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544758;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000284694;SAVANT_GENE=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;SAVANT_INFO=-/96.4kb/9/3.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-70C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf90+c.-70C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128209959">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1005,90,0:95	1|1:0,35:35:99:1203,105,0:95	1|1:0,32:32:96:1135,96,0:95
10	128335225	.	T	C	7791.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2842149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2842149" target="_blank">rs2842149</a>;ExAC.Info.AC=8557;ExAC.Info.AN=15262;ExAC.Info.AF=0.561;ExAC.Info.AC_Het=3245;ExAC.Info.AC_Hom=2324;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.241-19A>G;snpeff.Amino_Acid_length=796;snpeff.Gene_Name=C10orf90;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544758;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf90" target="_blank">C10orf90</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf90+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128335225">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,26:49:99:790,0,574:127	0/1:45,51:96:99:1666,0,1244:127	0/1:38,40:78:99:1203,0,993:127
10	128797717	.	T	C	4564.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=603;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2275540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275540" target="_blank">rs2275540</a>;ExAC.Info.AC=28921;ExAC.Info.AN=124912;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=21245;ExAC.Info.AC_Hom=3425;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.849+18T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.849+18T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.849+18T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128797717">View</a>	GT:AD:DP:GQ:PL:TP	0|0:193,0:193:99:0,580,6470:127	0|0:254,0:254:99:0,763,8760:127	0|1:74,82:156:99:2301,0,2056:127
10	128806888	.	G	C	1346.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs9418761;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9418761" target="_blank">rs9418761</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.600+6233C>G;snpeff.Gene_Name=RP11-223P11.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-223P113" target="_blank">RP11-223P113</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000601826;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.986-108G>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-223P113" target="_blank">RP11-223P113</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.986-108G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.986-108G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128806888">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1271:101	0|1:19,24:43:99:692,0,570:101	0|0:47,0:47:99:0,141,1772:101
10	128810642	.	C	T	2812.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs9418773;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9418773" target="_blank">rs9418773</a>;ExAC.Info.AC=20668;ExAC.Info.AN=125696;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=16730;ExAC.Info.AC_Hom=1939;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1138+4C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.600+2479G>A;snpeff.Gene_Name=RP11-223P11.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000601826;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1139C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1138+4C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.1138+4C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128810642">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,0:103:99:0,310,3493:127	0|1:62,54:116:99:1425,0,1743:127	0|0:114,0:114:99:0,342,3791:127
10	128810669	.	C	T	2124.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs9418691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9418691" target="_blank">rs9418691</a>;ExAC.Info.AC=22592;ExAC.Info.AN=125842;ExAC.Info.AF=0.180;ExAC.Info.AC_Het=17988;ExAC.Info.AC_Hom=2196;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1138+31C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.600+2452G>A;snpeff.Gene_Name=RP11-223P11.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000601826;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1138+31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.1138+31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128810669">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,279,2971:127	0|1:53,40:93:99:1081,0,1404:127	0|0:98,0:98:99:0,297,3285:127
10	128821616	.	T	G	26320.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=487;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs9418791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9418791" target="_blank">rs9418791</a>;ExAC.Info.AC=48582;ExAC.Info.AN=125240;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=29298;ExAC.Info.AC_Hom=9568;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1389+28T>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.152+2920A>C;snpeff.Gene_Name=RP11-223P11.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000601826;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.204+2920A>C;snpeff.Gene_Name=RP11-223P11.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420941;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1390T>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1390T>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1390T>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1390T>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1390T>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1389+28T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.1389+28T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128821616">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4536,367,0:127	1|0:106,93:199:99:2815,0,3009:127	1|0:89,77:166:99:2277,0,2549:127
10	128821636	.	C	T	18098.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=352;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs9418698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9418698" target="_blank">rs9418698</a>;ExAC.Info.AC=48558;ExAC.Info.AN=125324;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=29192;ExAC.Info.AC_Hom=9537;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1389+48C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.152+2900G>A;snpeff.Gene_Name=RP11-223P11.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000601826;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.204+2900G>A;snpeff.Gene_Name=RP11-223P11.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420941;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1390C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1390C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1390C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1390C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1390C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1389+48C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.1389+48C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128821636">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:3167,274,0:127	1|0:80,67:147:99:1960,0,2594:127	1|0:57,57:114:99:1706,0,1879:127
10	128836112	.	CTT	C	1141.5	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=47;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1947+33_1947+34delTT;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1947+50_1947+51delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.1947+50_1947+51delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128836112">View</a>	GT:AD:DP:GQ:PL	./0:4,3:10:1:45,1,164	./0:4,6:17:15:141,69,222	0/1:6,10:20:54:224,0,181
10	128836112	.	CTT	CT	1141.5	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=47;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1947+34delT;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1947+51delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.1947+51delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128836112">View</a>	GT:AD:DP:GQ:PL	0/1:4,3:10:1:45,0,56	0/1:4,7:17:15:141,0,27	./0:6,4:20:54:224,104,172
10	128923871	.	T	TG	1713.71	PASS	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;dbSNP139.ID=rs58146499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58146499" target="_blank">rs58146499</a>;ExAC.Info.AC=1;ExAC.Info.AN=125766;ExAC.Info.AF=7.951e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2688+7_2688+8insG;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2689_2690insG;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2688+7dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.2688+7dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128923871">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,17:58:99:461,0,1359:127	0/0:90,0:90:99:0,271,3346:127	0/0:96,0:96:99:0,289,3591:127
10	128923954	.	A	C	16580.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1186355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1186355" target="_blank">rs1186355</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2688+89A>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2688+89A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.2688+89A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128923954">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1503,150,0:127	1|1:0,79:79:99:2636,237,0:127	1|1:0,81:81:99:2708,243,0:127
10	128926013	.	A	G	24721.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1060561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1060561" target="_blank">rs1060561</a>;ExAC.Info.AC=102341;ExAC.Info.AN=124880;ExAC.Info.AF=0.820;ExAC.Info.AC_Het=16987;ExAC.Info.AC_Hom=42639;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgA/cgG;snpeff.Amino_Acid_Change=p.Arg923Arg/c.2769A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.2769A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.2769A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128926013">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2764,226,0:127	1|1:0,112:112:99:3976,337,0:127	1|1:0,99:99:99:3582,297,0:127
10	128952219	.	C	T	3732.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34225417;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34225417" target="_blank">rs34225417</a>;ExAC.Info.AC=29882;ExAC.Info.AN=126702;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=21656;ExAC.Info.AC_Hom=4061;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1185-32G>A;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=FAM196A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM196A" target="_blank">FAM196A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000522781;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2784+26191C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM196A" target="_blank">FAM196A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000522781:ENST00000280333;SAVANT_GENE=FAM196A:DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM196A:DOCK1" target="_blank">FAM196A:DOCK1</a>;SAVANT_INFO=-/60.7kb/6/4.4kb:+/656.8kb/52/6.8kb;SAVANT_LOC=In4/5:In27/28;SAVANT_HGVS=c.1185-32G>A:c.2784+26191C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM196A:DOCK1+c.1185-32G>A:c.2784+26191C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128952219">View</a>	GT:AD:DP:GQ:PL:TP	0|0:116,0:116:99:0,349,4017:127	0|0:150,0:150:99:0,451,5000:127	0|1:60,69:129:99:1885,0,1596:127
10	128952265	.	A	G	23611.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7068954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7068954" target="_blank">rs7068954</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1185-78T>C;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=FAM196A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM196A" target="_blank">FAM196A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000522781;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2784+26237A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM196A" target="_blank">FAM196A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000522781:ENST00000280333;SAVANT_GENE=FAM196A:DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM196A:DOCK1" target="_blank">FAM196A:DOCK1</a>;SAVANT_INFO=-/60.7kb/6/4.4kb:+/656.8kb/52/6.8kb;SAVANT_LOC=In4/5:In27/28;SAVANT_HGVS=c.1185-78T>C:c.2784+26237A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM196A:DOCK1+c.1185-78T>C:c.2784+26237A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128952265">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2565,204,0:127	1|1:0,109:109:99:3995,327,0:127	1|1:0,89:89:99:3182,267,0:127
10	128974220	.	G	A	5084.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=572;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11594560;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11594560" target="_blank">rs11594560</a>;ExAC.Info.AC=30340;ExAC.Info.AN=126704;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=21981;ExAC.Info.AC_Hom=4177;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2784+48192G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala147Val/c.440C>T;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=FAM196A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000522781;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000522781:ENST00000280333;SAVANT_GENE=FAM196A:DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM196A:DOCK1" target="_blank">FAM196A:DOCK1</a>;SAVANT_INFO=-/60.7kb/6/4.4kb:+/656.8kb/52/6.8kb;SAVANT_LOC=Ex4:In27/28;SAVANT_HGVS=c.440C>T_p.Ala147Val:c.2784+48192G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM196A:DOCK1+c.440C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128974220">View</a>	GT:AD:DP:GQ:PL:TP	0|0:173,0:173:99:0,520,6273:127	0|0:234,0:234:99:0,703,7931:127	0|1:74,91:165:99:2561,0,2200:127
10	128974621	.	C	T	30006.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=466;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2489386;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2489386" target="_blank">rs2489386</a>;ExAC.Info.AC=71510;ExAC.Info.AN=126626;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=29420;ExAC.Info.AC_Hom=20868;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2784+48593C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr13Thr/c.39G>A;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=FAM196A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000522781;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000522781:ENST00000280333;SAVANT_GENE=FAM196A:DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM196A:DOCK1" target="_blank">FAM196A:DOCK1</a>;SAVANT_INFO=-/60.7kb/6/4.4kb:+/656.8kb/52/6.8kb;SAVANT_LOC=Ex4:In27/28;SAVANT_HGVS=c.39G>A_p.=:c.2784+48593C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM196A:DOCK1+c.39G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:128974621">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,144:144:99:4664,432,0:127	1|1:0,174:174:99:5895,523,0:127	1|0:81,67:148:99:1720,0,2223:127
10	129160458	.	G	A	6472.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2296635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296635" target="_blank">rs2296635</a>;ExAC.Info.AC=30520;ExAC.Info.AN=125906;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=22585;ExAC.Info.AC_Hom=3870;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser1117Ser/c.3351G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=Ex33;SAVANT_HGVS=c.3351G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.3351G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129160458">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,50:95:99:1411,0,1216:127	1|0:43,46:89:99:1309,0,1309:127	0|0:108,0:108:99:0,324,3708:127
10	129200964	.	G	A	3692.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=428;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11017876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11017876" target="_blank">rs11017876</a>;ExAC.Info.AC=25817;ExAC.Info.AN=118762;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=19756;ExAC.Info.AC_Hom=2834;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3865-355G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3865G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.3865-355G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.3865-355G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129200964">View</a>	GT:AD:DP:GQ:PL:TP	0|0:119,0:119:99:0,357,4200:127	0|0:172,0:172:99:0,516,6068:127	0|1:68,69:137:99:1865,0,1878:127
10	129207514	.	G	A	5785.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=462;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2296629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296629" target="_blank">rs2296629</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4202-63G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.4202-63G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.4202-63G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129207514">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,0:149:99:0,447,5220:127	0|1:75,106:181:99:2911,0,2123:127	0|0:132,0:132:99:0,397,4647:127
10	129207564	.	C	T	1798.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12774391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12774391" target="_blank">rs12774391</a>;ExAC.Info.AC=27550;ExAC.Info.AN=125090;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=20941;ExAC.Info.AC_Hom=3268;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4202-13C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In41/42;SAVANT_HGVS=c.4202-13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.4202-13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129207564">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,274,3391:127	0|0:123,0:123:99:0,370,4532:127	0|1:47,34:81:99:918,0,1475:127
10	129209084	.	A	G	5026.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=463;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2296628;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296628" target="_blank">rs2296628</a>;ExAC.Info.AC=51793;ExAC.Info.AN=124894;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=27556;ExAC.Info.AC_Hom=11494;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4281-20A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4281A>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In42/43;SAVANT_HGVS=c.4281-20A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.4281-20A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129209084">View</a>	GT:AD:DP:GQ:PL:TP	0|0:138,0:138:99:0,415,4506:127	0|1:96,89:185:99:2532,0,2689:127	0|0:140,0:140:99:0,421,4747:127
10	129216658	.	T	C	2681.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=277;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2229600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229600" target="_blank">rs2229600</a>;ExAC.Info.AC=39258;ExAC.Info.AN=126524;ExAC.Info.AF=0.310;ExAC.Info.AC_Het=25386;ExAC.Info.AC_Hom=6716;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=41;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DHR-2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile1494Ile/c.4482T>C;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=Ex45;SAVANT_HGVS=c.4482T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.4482T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129216658">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,315,3449:127	0|1:56,46:102:99:1359,0,1578:127	0|0:70,0:70:99:0,210,2499:127
10	129231459	.	C	G	1128.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72843725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72843725" target="_blank">rs72843725</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4852-88C>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=In47/48;SAVANT_HGVS=c.4852-88C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.4852-88C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129231459">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1871:127	0|0:73,0:73:99:0,220,2789:127	0|1:28,20:48:99:583,0,962:127
10	129245684	.	G	A	7221.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs869801;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=869801" target="_blank">rs869801</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=29177;ExAC.Info.AN=125082;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=21674;ExAC.Info.AC_Hom=3378;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_NCK2_second_and_third_SH3_domain__minor_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5377G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcg/Acg;snpeff.Amino_Acid_Change=p.Ala1793Thr/c.5377G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=Ex51;SAVANT_HGVS=c.5377G>A_p.Ala1793Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.5377G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129245684">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,59:100:99:1532,0,1132:127	0|0:119,0:119:99:0,358,4173:127	1|0:43,38:81:99:963,0,1228:127
10	129249662	.	G	A	7327.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2229603;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229603" target="_blank">rs2229603</a>;ExAC.Info.AC=116548;ExAC.Info.AN=124786;ExAC.Info.AF=0.934;ExAC.Info.AC_Het=4754;ExAC.Info.AC_Hom=41535;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala1857Thr/c.5569G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=Ex52;SAVANT_HGVS=c.5569G>A_p.Ala1857Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.5569G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129249662">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:850,78,0:62	1|1:0,36:36:99:1297,108,0:62	1|1:0,21:21:63:717,63,0:62
10	129249676	.	C	T	9859.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2229604;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229604" target="_blank">rs2229604</a>;ExAC.Info.AC=54773;ExAC.Info.AN=123850;ExAC.Info.AF=0.442;ExAC.Info.AC_Het=19116;ExAC.Info.AC_Hom=8292;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser1861Ser/c.5583C>T;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=Ex52;SAVANT_HGVS=c.5583C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.5583C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129249676">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1074,93,0:98	1|1:0,42:42:99:1524,126,0:98	1|1:0,33:33:99:1232,99,0:98
10	129249693	.	G	A	15546.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2229605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229605" target="_blank">rs2229605</a>;ExAC.Info.AC=57730;ExAC.Info.AN=121860;ExAC.Info.AF=0.474;ExAC.Info.AC_Het=14154;ExAC.Info.AC_Hom=7099;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2;snpeff.Amino_Acid_Change=c.*2G>A;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.*2G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129249693">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1650,111,0:123	1|1:0,60:60:99:2704,184,0:123	1|1:0,40:40:99:1777,123,0:123
10	129249701	.	C	G	16432.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2229606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229606" target="_blank">rs2229606</a>;ExAC.Info.AC=106651;ExAC.Info.AN=118594;ExAC.Info.AF=0.899;ExAC.Info.AC_Het=2986;ExAC.Info.AC_Hom=21680;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.*10C>G;snpeff.Amino_Acid_length=1865;snpeff.Gene_Name=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280333;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280333;SAVANT_GENE=DOCK1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DOCK1" target="_blank">DOCK1</a>;SAVANT_INFO=+/656.8kb/52/6.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*10C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DOCK1+c.*10C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129249701">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1737,117,0:127	1|1:0,63:63:99:2816,193,0:127	1|1:0,46:46:99:2017,141,0:127
10	129350856	.	G	C	16614.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=515;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4751440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4751440" target="_blank">rs4751440</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Decreased_bioactivity;hgmd_2014.2.OMIM_ID=609513;hgmd_2014.2.PubMed=24386135;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24386135" target="_blank">24386135</a>;ExAC.Info.AC=11956;ExAC.Info.AN=125164;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=10428;ExAC.Info.AC_Hom=762;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Ctt;snpeff.Amino_Acid_Change=p.Val75Leu/c.223G>C;snpeff.Amino_Acid_length=89;snpeff.Gene_Name=NPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPS" target="_blank">NPS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398023;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398023;SAVANT_GENE=NPS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPS" target="_blank">NPS</a>;SAVANT_INFO=+/3.3kb/3/0.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.223G>C_p.Val75Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NPS+c.223G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129350856">View</a>	GT:AD:DP:GQ:PL:TP	0/1:79,68:147:99:1950,0,2241:127	0/1:112,99:211:99:2926,0,3189:127	0/1:84,73:157:99:2112,0,2517:127
10	129534679	.	T	C	11569.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4751501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4751501" target="_blank">rs4751501</a>;ExAC.Info.AC=14578;ExAC.Info.AN=14802;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=56;ExAC.Info.AC_Hom=3060;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.291A>G;snpeff.Gene_Name=AL391005.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3910051" target="_blank">AL3910051</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000341742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3910051" target="_blank">AL3910051</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3910051+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129534679">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1226,105,0:125	1|1:0,42:42:99:1591,126,0:125	1|1:0,46:46:99:1622,138,0:125
10	129534722	.	C	T	5659.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs79103670;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79103670" target="_blank">rs79103670</a>;ExAC.Info.AC=1527;ExAC.Info.AN=16202;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=621;ExAC.Info.AC_Hom=57;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.248G>A;snpeff.Gene_Name=AL391005.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3910051" target="_blank">AL3910051</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000341742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3910051" target="_blank">AL3910051</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3910051+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129534722">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,19:50:99:450,0,882:127	1|1:2,59:61:99:1806,127,0:127	0|0:64,0:64:99:0,192,2208:127
10	129534739	.	C	G	7931.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4751502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4751502" target="_blank">rs4751502</a>;ExAC.Info.AC=12211;ExAC.Info.AN=15126;ExAC.Info.AF=0.807;ExAC.Info.AC_Het=892;ExAC.Info.AC_Hom=2477;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.231G>C;snpeff.Gene_Name=AL391005.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3910051" target="_blank">AL3910051</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000341742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3910051" target="_blank">AL3910051</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3910051+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129534739">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,30:46:99:846,0,386:127	0|0:69,1:70:99:0,175,2252:127	1|1:0,66:66:99:2157,197,0:127
10	129534864	.	A	C	22701.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4751503;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4751503" target="_blank">rs4751503</a>;ExAC.Info.AC=17298;ExAC.Info.AN=17674;ExAC.Info.AF=0.979;ExAC.Info.AC_Het=139;ExAC.Info.AC_Hom=6413;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.106T>G;snpeff.Gene_Name=AL391005.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3910051" target="_blank">AL3910051</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000341742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL3910051" target="_blank">AL3910051</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL3910051+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129534864">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2633,231,0:127	1|1:0,114:114:99:3892,343,0:127	1|1:0,74:74:99:2705,223,0:127
10	129845547	.	A	C	1802.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4262642;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4262642" target="_blank">rs4262642</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.110-107A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.110A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.110A>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254667;SAVANT_GENE=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;SAVANT_INFO=+/178.8kb/21/5.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.110-107A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRE+c.110-107A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129845547">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,951:96	0|1:15,18:33:99:484,0,420:96	0|1:12,16:28:99:437,0,358:96
10	129845625	.	G	A	6352.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs61758315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61758315" target="_blank">rs61758315</a>;ExAC.Info.AC=6121;ExAC.Info.AN=126624;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=5482;ExAC.Info.AC_Hom=178;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.110-29G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.110G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.110G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254667;SAVANT_GENE=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;SAVANT_INFO=+/178.8kb/21/5.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.110-29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRE+c.110-29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129845625">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:918,84,0:84	1|0:18,16:34:99:528,0,583:84	1|0:9,19:28:99:481,0,243:84
10	129846010	.	G	A	7693.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=461;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7911904;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7911904" target="_blank">rs7911904</a>;ExAC.Info.AC=99445;ExAC.Info.AN=126704;ExAC.Info.AF=0.785;ExAC.Info.AC_Het=21073;ExAC.Info.AC_Hom=39151;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.210-18G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.210G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254667;SAVANT_GENE=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;SAVANT_INFO=+/178.8kb/21/5.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.210-18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRE+c.210-18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129846010">View</a>	GT:AD:DP:GQ:PL:TP	0|0:146,0:146:99:0,439,4829:127	0|1:105,79:184:99:2221,0,2932:127	0|1:67,64:131:99:1645,0,1703:127
10	129854369	.	T	C	22471.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4424589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4424589" target="_blank">rs4424589</a>;ExAC.Info.AC=105221;ExAC.Info.AN=126700;ExAC.Info.AF=0.830;ExAC.Info.AC_Het=17396;ExAC.Info.AC_Hom=43882;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.421-18T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" 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target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" 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target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" 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target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254667;SAVANT_GENE=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;SAVANT_INFO=+/178.8kb/21/5.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.421-18T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRE+c.421-18T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129854369">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3651,330,0:127	1|1:0,104:104:99:3568,313,0:127	1|1:0,75:75:99:2551,225,0:127
10	129854550	.	G	A	2052.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11016041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11016041" target="_blank">rs11016041</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.511+73G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" 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target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" 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target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512G>A;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254667;SAVANT_GENE=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;SAVANT_INFO=+/178.8kb/21/5.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.511+73G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRE+c.511+73G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129854550">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1232:96	0|1:24,21:45:99:594,0,766:96	0|1:9,15:24:99:452,0,252:96
10	129859992	.	T	C	9416.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4462251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4462251" target="_blank">rs4462251</a>;ExAC.Info.AC=71478;ExAC.Info.AN=126670;ExAC.Info.AF=0.564;ExAC.Info.AC_Het=30046;ExAC.Info.AC_Hom=20485;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.625+13T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" 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target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626T>C;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254667;SAVANT_GENE=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;SAVANT_INFO=+/178.8kb/21/5.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.625+13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRE+c.625+13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129859992">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,40:77:99:1117,0,931:127	0|1:39,38:77:99:1155,0,1060:127	1|1:0,60:60:99:2159,180,0:127
10	129864515	.	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target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.844C>T;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.844C>T;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.844C>T;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.844C>T;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254667;SAVANT_GENE=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;SAVANT_INFO=+/178.8kb/21/5.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.843+57C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRE+c.843+57C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129864515">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2077,189,0:127	1|1:0,92:92:99:3230,277,0:127	1|1:0,80:80:99:2732,240,0:127
10	129883370	.	A	G	18205.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1129205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1129205" target="_blank">rs1129205</a>;ExAC.Info.AC=7359;ExAC.Info.AN=15408;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=2814;ExAC.Info.AC_Hom=1690;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=downstream_gene_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Amino_Acid_length=700;snpeff.Gene_Name=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419012;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254667;SAVANT_GENE=PTPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRE" target="_blank">PTPRE</a>;SAVANT_INFO=+/178.8kb/21/5.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2200A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRE+c.*2200A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129883370">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,66:133:99:1881,0,1774:127	1|1:0,132:132:99:4668,397,0:127	0|1:77,61:138:99:1664,0,2177:127
10	129899578	.	T	C	3805.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs8473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8473" target="_blank">rs8473</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=63459;ExAC.Info.AN=126704;ExAC.Info.AF=0.501;ExAC.Info.AC_Het=31065;ExAC.Info.AC_Hom=16194;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aaa/Gaa;snpeff.Amino_Acid_Change=p.Lys3217Glu/c.9649A>G;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.9649A>G_p.Lys3217Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.9649A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129899578">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,17:48:99:408,0,864:78	1|0:26,34:60:99:980,0,817:78	0|0:26,0:26:78:0,78,950:78
10	129899778	.	G	C	10766.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11106;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11106" target="_blank">rs11106</a>;ExAC.Info.AC=54645;ExAC.Info.AN=126704;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=30511;ExAC.Info.AC_Hom=12066;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aGt;snpeff.Amino_Acid_Change=p.Thr3150Ser/c.9449C>G;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.9449C>G_p.Thr3150Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.9449C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129899778">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,62:109:99:1665,0,1373:127	1|0:76,87:163:99:2687,0,2335:127	0|0:112,0:112:99:0,336,3730:127
10	129900858	.	C	T	5852.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3191122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3191122" target="_blank">rs3191122</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=29879;ExAC.Info.AN=126700;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=22064;ExAC.Info.AC_Hom=3899;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser3082Ser/c.9246G>A;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.9246G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.9246G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129900858">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,50:111:99:1413,0,1758:127	1|0:63,40:103:99:1009,0,1825:127	0|0:110,0:110:99:0,330,3691:127
10	129901501	.	G	C	8901.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2071496;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2071496" target="_blank">rs2071496</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=29947;ExAC.Info.AN=126704;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=22107;ExAC.Info.AC_Hom=3919;snpeff.Effect=sequence_feature[region_of_interest:16_X_122_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8603G>C;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:16];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8603G>C;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aGc;snpeff.Amino_Acid_Change=p.Thr2868Ser/c.8603C>G;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.8603C>G_p.Thr2868Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.8603C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129901501">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,53:112:99:1411,0,1502:127	1|0:83,69:152:99:1941,0,2413:127	0|0:118,0:118:99:0,355,4121:127
10	129901747	.	C	T	8060.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10764749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10764749" target="_blank">rs10764749</a>;ExAC.Info.AC=29935;ExAC.Info.AN=126702;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=22094;ExAC.Info.AC_Hom=3913;snpeff.Effect=sequence_feature[repeat:15];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8357C>T;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:16_X_122_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8357C>T;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg2786Gln/c.8357G>A;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.8357G>A_p.Arg2786Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.8357G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129901747">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,57:92:99:1745,0,1009:127	1|0:50,55:105:99:1764,0,1519:127	0|0:67,1:68:99:0,169,2284:127
10	129902281	.	G	A	11294.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=459;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1063535;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1063535" target="_blank">rs1063535</a>;ExAC.Info.AC=62847;ExAC.Info.AN=126704;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=31054;ExAC.Info.AC_Hom=15894;snpeff.Effect=sequence_feature[repeat:14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7823G>A;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:16_X_122_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7823G>A;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cTc;snpeff.Amino_Acid_Change=p.Pro2608Leu/c.7823C>T;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.7823C>T_p.Pro2608Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.7823C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129902281">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,57:128:99:1584,0,2173:127	1|0:92,85:177:99:2582,0,2709:127	0|0:154,0:154:99:0,463,5519:127
10	129903016	.	T	C	17249.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=764;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7071768;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7071768" target="_blank">rs7071768</a>;ExAC.Info.AC=62898;ExAC.Info.AN=126702;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=31067;ExAC.Info.AC_Hom=15915;snpeff.Effect=sequence_feature[repeat:12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7088T>C;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:16_X_122_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7088T>C;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn2363Ser/c.7088A>G;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.7088A>G_p.Asn2363Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.7088A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129903016">View</a>	GT:AD:DP:GQ:PL:TP	0|1:96,127:223:99:3652,0,2695:127	1|0:152,144:296:99:4196,0,4281:127	0|0:244,1:245:99:0,726,8363:127
10	129903802	.	A	G	7076.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11016073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11016073" target="_blank">rs11016073</a>;ExAC.Info.AC=24859;ExAC.Info.AN=126704;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=19601;ExAC.Info.AC_Hom=2629;snpeff.Effect=sequence_feature[repeat:10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6302A>G;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:16_X_122_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6302A>G;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile2101Thr/c.6302T>C;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.6302T>C_p.Ile2101Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.6302T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129903802">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,331,3731:127	0|1:79,69:148:99:2009,0,2215:127	0|1:68,48:116:99:1549,0,1960:127
10	129904560	.	C	T	9003.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2853346;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2853346" target="_blank">rs2853346</a>;ExAC.Info.AC=37018;ExAC.Info.AN=126704;ExAC.Info.AF=0.292;ExAC.Info.AC_Het=25920;ExAC.Info.AC_Hom=5548;snpeff.Effect=sequence_feature[region_of_interest:16_X_122_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5544C>T;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr1848Thr/c.5544G>A;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.5544G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.5544G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129904560">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,337,4046:127	0|1:69,80:149:99:2463,0,2016:127	0|1:49,65:114:99:2058,0,1537:127
10	129904917	.	G	A	10289.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=426;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1894410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1894410" target="_blank">rs1894410</a>;ExAC.Info.AC=19025;ExAC.Info.AN=126704;ExAC.Info.AF=0.150;ExAC.Info.AC_Het=16009;ExAC.Info.AC_Hom=1507;snpeff.Effect=sequence_feature[region_of_interest:16_X_122_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5187G>A;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn1729Asn/c.5187C>T;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.5187C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.5187C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129904917">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,73:146:99:2139,0,2106:127	0|0:157,0:157:99:0,472,5725:127	1|0:53,70:123:99:2183,0,1661:127
10	129905896	.	T	A	11574.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=518;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740423" target="_blank">rs3740423</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=23911;ExAC.Info.AN=126702;ExAC.Info.AF=0.189;ExAC.Info.AC_Het=18686;ExAC.Info.AC_Hom=2612;snpeff.Effect=sequence_feature[repeat:4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4208T>A;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:16_X_122_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4208T>A;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gTg;snpeff.Amino_Acid_Change=p.Glu1403Val/c.4208A>T;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.4208A>T_p.Glu1403Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.4208A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129905896">View</a>	GT:AD:DP:GQ:PL:TP	0|1:80,75:155:99:2017,0,2164:127	1|0:103,105:208:99:2763,0,2745:127	0|0:155,0:155:99:0,466,5208:127
10	129906980	.	C	T	17573.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=742;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|D|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2152143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2152143" target="_blank">rs2152143</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=30337;ExAC.Info.AN=126702;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=22407;ExAC.Info.AC_Hom=3965;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3124C>T;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:16_X_122_AA_approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3124C>T;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly1042Ser/c.3124G>A;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.3124G>A_p.Gly1042Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.3124G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129906980">View</a>	GT:AD:DP:GQ:PL:TP	0|1:121,116:237:99:3361,0,3370:127	1|0:138,145:283:99:4329,0,4005:127	0|0:222,0:222:99:0,667,7305:127
10	129907610	.	G	A	10794.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=482;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34916904;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34916904" target="_blank">rs34916904</a>;ExAC.Info.AC=3158;ExAC.Info.AN=126704;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=3053;ExAC.Info.AC_Hom=52;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg832Trp/c.2494C>T;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2494C>T_p.Arg832Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.2494C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129907610">View</a>	GT:AD:DP:GQ:PL:TP	1|0:77,65:142:99:1856,0,2208:127	0|0:174,0:174:99:0,523,6067:127	1|0:80,86:166:99:2466,0,2322:127
10	129917560	.	T	C	10505.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2071498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2071498" target="_blank">rs2071498</a>;ExAC.Info.AC=82056;ExAC.Info.AN=126674;ExAC.Info.AF=0.648;ExAC.Info.AC_Het=28480;ExAC.Info.AC_Hom=26703;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn104Ser/c.311A>G;snpeff.Amino_Acid_length=3256;snpeff.Gene_Name=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368654;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368654;SAVANT_GENE=MKI67;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MKI67" target="_blank">MKI67</a>;SAVANT_INFO=-/29.7kb/15/12.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.311A>G_p.Asn104Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MKI67+c.311A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:129917560">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,40:70:99:1265,0,691:127	1|1:0,82:82:99:2773,246,0:127	0|1:31,29:60:99:889,0,874:127
10	131265665	.	T	G	11050.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs16906255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16906255" target="_blank">rs16906255</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.81+105T>G;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=MGMT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGMT" target="_blank">MGMT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306010;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306010;SAVANT_GENE=MGMT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGMT" target="_blank">MGMT</a>;SAVANT_INFO=+/300.8kb/5/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.81+105T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MGMT+c.81+105T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131265665">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1212,102,0:125	1|1:0,44:44:99:1524,132,0:125	1|1:0,42:42:99:1546,126,0:125
10	131564998	.	A	G	5556.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2296675;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2296675" target="_blank">rs2296675</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.508-54A>G;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=MGMT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGMT" target="_blank">MGMT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306010;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306010;SAVANT_GENE=MGMT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MGMT" target="_blank">MGMT</a>;SAVANT_INFO=+/300.8kb/5/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.508-54A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MGMT+c.508-54A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131564998">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,27:52:99:784,0,691:127	0/1:35,31:66:99:935,0,983:127	0/1:30,18:48:99:535,0,889:127
10	131755652	.	A	ATT	2574.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs36101167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36101167" target="_blank">rs36101167</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.486-62_486-63insAA;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=EBF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBF3" target="_blank">EBF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355311;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.486_487insTT;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=EBF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBF3" target="_blank">EBF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355311;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C5-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.486_487insTT;snpeff.Amino_Acid_length=596;snpeff.Gene_Name=EBF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBF3" target="_blank">EBF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000355311;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368648;SAVANT_GENE=EBF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EBF3" target="_blank">EBF3</a>;SAVANT_INFO=-/128.6kb/16/4.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.486-64_486-63dupAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EBF3+c.486-64_486-63dupAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131755652">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,20:56:99:457,0,2030:127	0|0:85,0:85:99:0,266,4993:127	1|0:37,26:63:99:555,0,1940:127
10	131904809	.	C	T	12794.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=399;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1177699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1177699" target="_blank">rs1177699</a>;ExAC.Info.AC=33887;ExAC.Info.AN=126304;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=23910;ExAC.Info.AC_Hom=4866;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.537C>T;snpeff.Gene_Name=CTAGE7P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTAGE7P" target="_blank">CTAGE7P</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000417351;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.115-2315G>A;snpeff.Gene_Name=LINC00959;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTAGE7P" target="_blank">CTAGE7P</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456581;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTAGE7P" target="_blank">CTAGE7P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTAGE7P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131904809">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,63:142:99:1553,0,2356:127	1|1:0,126:126:99:4157,378,0:127	0|0:131,0:131:99:0,393,4478:127
10	131906096	.	C	T	6211.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs55975328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55975328" target="_blank">rs55975328</a>;ExAC.Info.AC=26854;ExAC.Info.AN=126692;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20792;ExAC.Info.AC_Hom=3009;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1824C>T;snpeff.Gene_Name=CTAGE7P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTAGE7P" target="_blank">CTAGE7P</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000417351;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.114+2872G>A;snpeff.Gene_Name=LINC00959;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTAGE7P" target="_blank">CTAGE7P</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000456581;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTAGE7P" target="_blank">CTAGE7P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTAGE7P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131906096">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,55:93:99:1582,0,1063:127	0|0:109,2:111:99:0,284,3518:127	1|0:51,42:93:99:1090,0,1414:127
10	131934628	.	T	C	277.53	PASS	InheritancePattern=unknown;AC=3;AF=0.750;AN=4;DP=4;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=./.;NA12891_GT=1|1;dbSNP139.ID=rs2274220;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274220" target="_blank">rs2274220</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274220" target="_blank">rs2274220</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131934628">View</a>	GT:AD:DP:GQ:PL:TP	0|1:1,0:1:2:0,3,38:5	1|1:0,3:3:9:104,9,0:5	./.
10	131934747	.	G	C	122.7	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=8;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13991" target="_blank">rs13991</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=2500;ExAC.Info.AN=23860;ExAC.Info.AF=0.105;ExAC.Info.AC_Het=744;ExAC.Info.AC_Hom=83;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caC;snpeff.Amino_Acid_Change=p.Gln21His/c.63G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368644;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368644;SAVANT_GENE=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;SAVANT_INFO=+/44.0kb/12/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.63G>C_p.Gln21His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLRX3+c.63G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131934747">View</a>	GT:AD:DP:GQ:PL:TP	0|0:2,0:2:6:0,6,82:4	0|1:1,3:4:30:79,0,30:4	0|0:2,0:2:6:0,6,86:4
10	131943384	.	T	C	962.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=48;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7095590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7095590" target="_blank">rs7095590</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.93-91T>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368644;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368644;SAVANT_GENE=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;SAVANT_INFO=+/44.0kb/12/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.93-91T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLRX3+c.93-91T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131943384">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,0:18:54:0,54,655:54	0|1:5,10:15:99:324,0,149:54	0|1:8,7:15:99:177,0,258:54
10	131943423	.	G	T	3372.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7073590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7073590" target="_blank">rs7073590</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.93-52G>T;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368644;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368644;SAVANT_GENE=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;SAVANT_INFO=+/44.0kb/12/1.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.93-52G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLRX3+c.93-52G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131943423">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,11:32:99:281,0,594:96	1|1:0,32:32:96:1125,96,0:96	0|1:22,7:29:99:189,0,687:96
10	131958210	.	G	C	2666.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1570795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1570795" target="_blank">rs1570795</a>;ExAC.Info.AC=28803;ExAC.Info.AN=126666;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=21337;ExAC.Info.AC_Hom=3640;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.202-49G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368644;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368644;SAVANT_GENE=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;SAVANT_INFO=+/44.0kb/12/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.202-49G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLRX3+c.202-49G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131958210">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1782:127	0|1:25,24:49:99:708,0,810:127	0|1:28,22:50:99:644,0,780:127
10	131959150	.	C	T	2339.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2274217;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274217" target="_blank">rs2274217</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=28861;ExAC.Info.AN=126704;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=21476;ExAC.Info.AC_Hom=3690;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro123Ser/c.367C>T;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368644;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368644;SAVANT_GENE=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;SAVANT_INFO=+/44.0kb/12/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.367C>T_p.Pro123Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLRX3+c.367C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131959150">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1294:108	0|1:26,23:49:99:622,0,790:108	0|1:28,21:49:99:567,0,788:108
10	131967693	.	T	A	14475.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs17297984;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17297984" target="_blank">rs17297984</a>;ExAC.Info.AC=43722;ExAC.Info.AN=126696;ExAC.Info.AF=0.345;ExAC.Info.AC_Het=27410;ExAC.Info.AC_Hom=8132;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.714-4T>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368644;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714T>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368644;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368644;SAVANT_GENE=GLRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLRX3" target="_blank">GLRX3</a>;SAVANT_INFO=+/44.0kb/12/1.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.714-4T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLRX3+c.714-4T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:131967693">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,50:87:99:1374,0,997:127	1|1:0,117:117:99:4080,351,0:127	0|1:57,50:107:99:1424,0,1654:127
10	132944958	.	C	G	2480.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs41282898;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41282898" target="_blank">rs41282898</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1035-35G>C;snpeff.Amino_Acid_length=586;snpeff.Gene_Name=TCERG1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCERG1L" target="_blank">TCERG1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368642;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WW_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1035C>G;snpeff.Amino_Acid_length=586;snpeff.Gene_Name=TCERG1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCERG1L" target="_blank">TCERG1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368642;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:WW_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1035C>G;snpeff.Amino_Acid_length=586;snpeff.Gene_Name=TCERG1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCERG1L" target="_blank">TCERG1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368642;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368642;SAVANT_GENE=TCERG1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCERG1L" target="_blank">TCERG1L</a>;SAVANT_INFO=-/219.3kb/12/2.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1035-35G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCERG1L+c.1035-35G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:132944958">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,351,3811:127	0|0:138,0:138:99:0,414,4615:127	0|1:54,44:98:99:1259,0,1487:127
10	132961555	.	C	CA	8500.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11416735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11416735" target="_blank">rs11416735</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.946-82_946-83insT;snpeff.Amino_Acid_length=586;snpeff.Gene_Name=TCERG1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCERG1L" target="_blank">TCERG1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368642;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368642;SAVANT_GENE=TCERG1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCERG1L" target="_blank">TCERG1L</a>;SAVANT_INFO=-/219.3kb/12/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.946-83dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCERG1L+c.946-83dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:132961555">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:968,87,0:80	1|1:0,44:44:99:1478,132,0:80	1|1:0,27:27:81:907,81,0:80
10	133109602	.	G	A	1450.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=38;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs148913526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148913526" target="_blank">rs148913526</a>;ExAC.Info.AC=886;ExAC.Info.AN=9688;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser99Ser/c.297C>T;snpeff.Amino_Acid_length=586;snpeff.Gene_Name=TCERG1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCERG1L" target="_blank">TCERG1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368642;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368642;SAVANT_GENE=TCERG1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCERG1L" target="_blank">TCERG1L</a>;SAVANT_INFO=-/219.3kb/12/2.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.297C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCERG1L+c.297C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133109602">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,6:14:99:194,0,231:127	0/1:7,5:12:99:164,0,230:127	0/1:5,7:12:99:215,0,159:127
10	133608210	.	A	G	15168.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4897741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4897741" target="_blank">rs4897741</a>;ExAC.Info.AC=9818;ExAC.Info.AN=22138;ExAC.Info.AF=0.443;ExAC.Info.AC_Het=3656;ExAC.Info.AC_Hom=2230;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys56Arg/c.166T>C;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=AL450307.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4503071" target="_blank">AL4503071</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341866;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341866;SAVANT_GENE=AL450307.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4503071" target="_blank">AL4503071</a>;SAVANT_INFO=-/17.8kb/5/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.166T>C_p.Cys56Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL4503071+c.166T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133608210">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1740,156,0:127	1|1:0,69:69:99:2461,207,0:127	1|1:0,59:59:99:2009,177,0:127
10	133608237	.	G	A	11050.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4897783;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4897783" target="_blank">rs4897783</a>;ExAC.Info.AC=8493;ExAC.Info.AN=21254;ExAC.Info.AF=0.400;ExAC.Info.AC_Het=3607;ExAC.Info.AC_Hom=1763;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg47Trp/c.139C>T;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=AL450307.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4503071" target="_blank">AL4503071</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341866;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341866;SAVANT_GENE=AL450307.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4503071" target="_blank">AL4503071</a>;SAVANT_INFO=-/17.8kb/5/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.139C>T_p.Arg47Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL4503071+c.139C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133608237">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1508,132,0:127	1|1:0,62:62:99:2152,186,0:127	1|0:27,27:54:99:780,0,841:127
10	133608291	.	T	G	12933.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4897742;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4897742" target="_blank">rs4897742</a>;ExAC.Info.AC=8123;ExAC.Info.AN=19636;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=3522;ExAC.Info.AC_Hom=1730;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Cgc;snpeff.Amino_Acid_Change=p.Ser29Arg/c.85A>C;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=AL450307.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4503071" target="_blank">AL4503071</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341866;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341866;SAVANT_GENE=AL450307.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4503071" target="_blank">AL4503071</a>;SAVANT_INFO=-/17.8kb/5/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.85A>C_p.Ser29Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL4503071+c.85A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133608291">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1620,108,0:107	1|1:0,53:53:99:2365,160,0:107	1|0:24,20:44:99:768,0,948:107
10	133608292	.	T	G	12884.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4897743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4897743" target="_blank">rs4897743</a>;ExAC.Info.AC=8123;ExAC.Info.AN=19658;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=3526;ExAC.Info.AC_Hom=1730;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agA/agC;snpeff.Amino_Acid_Change=p.Arg28Ser/c.84A>C;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=AL450307.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4503071" target="_blank">AL4503071</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341866;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341866;SAVANT_GENE=AL450307.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4503071" target="_blank">AL4503071</a>;SAVANT_INFO=-/17.8kb/5/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.84A>C_p.Arg28Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL4503071+c.84A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133608292">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1620,108,0:107	1|1:0,50:50:99:2365,160,0:107	1|0:24,20:44:99:768,0,948:107
10	133608355	.	G	A	944.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=137;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72847043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72847043" target="_blank">rs72847043</a>;ExAC.Info.AC=837;ExAC.Info.AN=22790;ExAC.Info.AF=0.037;ExAC.Info.AC_Het=579;ExAC.Info.AC_Hom=19;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn7Asn/c.21C>T;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=AL450307.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4503071" target="_blank">AL4503071</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341866;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341866;SAVANT_GENE=AL450307.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AL4503071" target="_blank">AL4503071</a>;SAVANT_INFO=-/17.8kb/5/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.21C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AL4503071+c.21C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133608355">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1107:90	0|0:75,0:75:99:0,225,2524:90	0|1:14,18:32:99:491,0,422:90
10	133748121	.	A	G	3358.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72856070;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72856070" target="_blank">rs72856070</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.105+62A>G;snpeff.Amino_Acid_length=422;snpeff.Gene_Name=PPP2R2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP2R2D" target="_blank">PPP2R2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000455566;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000455566;SAVANT_GENE=PPP2R2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP2R2D" target="_blank">PPP2R2D</a>;SAVANT_INFO=+/25.4kb/7/5.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.105+62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPP2R2D+c.105+62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133748121">View</a>	GT:AD:DP:GQ:PL:TP	0|0:156,0:156:99:0,469,5343:127	0|0:169,0:169:99:0,508,6084:127	0|1:56,59:115:99:1698,0,1698:127
10	133769482	.	G	C	1672.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7894" target="_blank">rs7894</a>;ExAC.Info.AC=35547;ExAC.Info.AN=125870;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=23049;ExAC.Info.AC_Hom=4667;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.*15G>C;snpeff.Amino_Acid_length=422;snpeff.Gene_Name=PPP2R2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP2R2D" target="_blank">PPP2R2D</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000455566;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000455566;SAVANT_GENE=PPP2R2D;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP2R2D" target="_blank">PPP2R2D</a>;SAVANT_INFO=+/25.4kb/7/5.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*15G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPP2R2D+c.*15G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133769482">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2442:127	0|0:86,0:86:99:0,258,3055:127	0|1:52,33:85:99:855,0,1478:127
10	133786586	.	T	C	12101.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=416;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1050704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1050704" target="_blank">rs1050704</a>;ExAC.Info.AC=12939;ExAC.Info.AN=126704;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=11355;ExAC.Info.AC_Hom=792;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg78Arg/c.234A>G;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=BNIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BNIP3" target="_blank">BNIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368636;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368636;SAVANT_GENE=BNIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BNIP3" target="_blank">BNIP3</a>;SAVANT_INFO=-/13.9kb/6/1.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.234A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BNIP3+c.234A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133786586">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,70:133:99:2025,0,1615:127	0/1:79,75:154:99:2184,0,2390:127	0/1:77,52:129:99:1474,0,2376:127
10	133795202	.	T	TTGGCCTCCCTC	365.72	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=44;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs142589527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142589527" target="_blank">rs142589527</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.46+63_46+62insGAGGGAGGCCA;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=BNIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BNIP3" target="_blank">BNIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368636;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000368636;SAVANT_GENE=BNIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BNIP3" target="_blank">BNIP3</a>;SAVANT_INFO=-/13.9kb/6/1.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.46+62_46+63insGAGGGAGGCCA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BNIP3+c.46+62_46+63insGAGGGAGGCCA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133795202">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:43:0,43,686:36	0|0:12,0:12:37:0,37,585:36	0|1:12,6:18:99:206,0,547:36
10	133918420	.	G	A	3426.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11146177;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11146177" target="_blank">rs11146177</a>;ExAC.Info.AC=18289;ExAC.Info.AN=124124;ExAC.Info.AF=0.147;ExAC.Info.AC_Het=10915;ExAC.Info.AC_Hom=1085;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln36Gln/c.108G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298622;SAVANT_GENE=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;SAVANT_INFO=+/80.1kb/24/6.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.108G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAKMIP3+c.108G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133918420">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,23:48:99:546,0,631:127	1|0:33,24:57:99:614,0,923:127	0|0:60,0:60:99:0,180,2014:127
10	133918466	.	T	C	2528.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10870253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10870253" target="_blank">rs10870253</a>;ExAC.Info.AC=35111;ExAC.Info.AN=119496;ExAC.Info.AF=0.294;ExAC.Info.AC_Het=12493;ExAC.Info.AC_Hom=3392;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.135+19T>C;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.136T>C;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.136T>C;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.136T>C;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298622;SAVANT_GENE=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;SAVANT_INFO=+/80.1kb/24/6.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.135+19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAKMIP3+c.135+19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133918466">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,15:31:99:501,0,413:127	1|0:21,16:37:99:439,0,611:127	0|0:50,0:50:99:0,149,1593:127
10	133948634	.	T	C	3592.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2814182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2814182" target="_blank">rs2814182</a>;ExAC.Info.AC=94459;ExAC.Info.AN=124838;ExAC.Info.AF=0.757;ExAC.Info.AC_Het=21323;ExAC.Info.AC_Hom=36251;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.939T>C;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.939T>C;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.939T>C;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.939T>C;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn313Asn/c.939T>C;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298622;SAVANT_GENE=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;SAVANT_INFO=+/80.1kb/24/6.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.939T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAKMIP3+c.939T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133948634">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,14:25:99:448,0,326:127	0/1:20,23:43:99:659,0,539:127	0/1:23,18:41:99:480,0,669:127
10	133955569	.	C	CCG	10524.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5789117;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5789117" target="_blank">rs5789117</a>;ExAC.Info.AC=108341;ExAC.Info.AN=124374;ExAC.Info.AF=0.871;ExAC.Info.AC_Het=9178;ExAC.Info.AC_Hom=36025;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1602+18_1602+19insCG;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1603_1604insCG;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1603_1604insCG;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1603_1604insCG;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1603_1604insCG;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1603_1604insCG;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000298622;SAVANT_GENE=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;SAVANT_INFO=+/80.1kb/24/6.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1602+22_1602+23dupCG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAKMIP3+c.1602+22_1602+23dupCG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133955569">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1204,87,0:95	1|1:0,31:31:96:1307,96,0:95	1|1:0,43:43:99:1816,132,0:95
10	133958541	.	C	T	8491.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2637627;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2637627" target="_blank">rs2637627</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1603-70C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1603C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1603C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1603C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1603C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1603C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298622;SAVANT_GENE=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;SAVANT_INFO=+/80.1kb/24/6.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1603-70C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAKMIP3+c.1603-70C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133958541">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,35:82:99:841,0,1539:127	0/1:46,54:100:99:1649,0,1341:127	0/1:52,36:88:99:1009,0,1453:127
10	133961494	.	C	T	6380.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2818384;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2818384" target="_blank">rs2818384</a>;ExAC.Info.AC=67246;ExAC.Info.AN=125910;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=27427;ExAC.Info.AC_Hom=18165;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1788C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1788C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1788C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1788C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1788C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His596His/c.1788C>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298622;SAVANT_GENE=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;SAVANT_INFO=+/80.1kb/24/6.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1788C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAKMIP3+c.1788C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133961494">View</a>	GT:AD:DP:GQ:PL:TP	0/1:20,26:46:99:710,0,558:127	0/1:24,30:54:99:892,0,678:127	0/1:26,35:61:99:981,0,723:127
10	133963466	.	A	G	4372.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs9419380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9419380" target="_blank">rs9419380</a>;ExAC.Info.AC=91177;ExAC.Info.AN=123482;ExAC.Info.AF=0.738;ExAC.Info.AC_Het=21208;ExAC.Info.AC_Hom=32805;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1948-20A>G;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298622;SAVANT_GENE=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;SAVANT_INFO=+/80.1kb/24/6.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1948-20A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAKMIP3+c.1948-20A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133963466">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,18:30:99:506,0,311:127	0/1:15,19:34:99:647,0,418:127	0/1:15,15:30:99:435,0,414:127
10	133966552	.	G	A	4759.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56317371;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56317371" target="_blank">rs56317371</a>;ExAC.Info.AC=14752;ExAC.Info.AN=124890;ExAC.Info.AF=0.118;ExAC.Info.AC_Het=10295;ExAC.Info.AC_Hom=841;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2067+25G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2068G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2068G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2068G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2068G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2068G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2068G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298622;SAVANT_GENE=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;SAVANT_INFO=+/80.1kb/24/6.6kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2067+25G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAKMIP3+c.2067+25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133966552">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,33:55:99:890,0,589:116	1|0:36,37:73:99:1142,0,1100:116	0|0:39,0:39:99:0,117,1424:116
10	133976706	.	G	T	2233.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12776458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12776458" target="_blank">rs12776458</a>;ExAC.Info.AC=39693;ExAC.Info.AN=106284;ExAC.Info.AF=0.373;ExAC.Info.AC_Het=6649;ExAC.Info.AC_Hom=2980;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2215-7G>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2215G>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2215G>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2215G>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2215G>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2215G>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2215G>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2215G>T;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298622;SAVANT_GENE=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;SAVANT_INFO=+/80.1kb/24/6.6kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2215-7G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAKMIP3+c.2215-7G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133976706">View</a>	GT:AD:DP:GQ:PL:TP	0/1:6,16:22:99:423,0,164:127	0/1:12,16:28:99:457,0,322:127	0/1:11,5:16:99:127,0,281:127
10	133981682	.	G	A	6329.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4880338;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4880338" target="_blank">rs4880338</a>;ExAC.Info.AC=8708;ExAC.Info.AN=16320;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=2975;ExAC.Info.AC_Hom=2322;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1145;snpeff.Amino_Acid_Change=c.*248G>A;snpeff.Amino_Acid_length=844;snpeff.Gene_Name=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298622;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298622;SAVANT_GENE=JAKMIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAKMIP3" target="_blank">JAKMIP3</a>;SAVANT_INFO=+/80.1kb/24/6.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1145G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=JAKMIP3+c.*1145G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:133981682">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,20:46:99:565,0,787:127	0/1:34,37:71:99:1146,0,961:127	0/1:17,30:47:99:993,0,464:127
10	134013856	.	G	T	7760.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs871883;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=871883" target="_blank">rs871883</a>;ExAC.Info.AC=61494;ExAC.Info.AN=126426;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=28280;ExAC.Info.AC_Hom=16286;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.812-4G>T;snpeff.Amino_Acid_length=572;snpeff.Gene_Name=DPYSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYSL4" target="_blank">DPYSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>T;snpeff.Amino_Acid_length=572;snpeff.Gene_Name=DPYSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYSL4" target="_blank">DPYSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338492;SAVANT_GENE=DPYSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYSL4" target="_blank">DPYSL4</a>;SAVANT_INFO=+/18.9kb/14/2.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.812-4G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYSL4+c.812-4G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134013856">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,18:56:99:448,0,1265:127	0/1:29,38:67:99:1145,0,908:127	0/1:22,39:61:99:1137,0,604:127
10	134013990	.	G	A	30687.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2247705;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2247705" target="_blank">rs2247705</a>;ExAC.Info.AC=107349;ExAC.Info.AN=126384;ExAC.Info.AF=0.849;ExAC.Info.AC_Het=15619;ExAC.Info.AC_Hom=45279;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala314Ala/c.942G>A;snpeff.Amino_Acid_length=572;snpeff.Gene_Name=DPYSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYSL4" target="_blank">DPYSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338492;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338492;SAVANT_GENE=DPYSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYSL4" target="_blank">DPYSL4</a>;SAVANT_INFO=+/18.9kb/14/2.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.942G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYSL4+c.942G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134013990">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,123:123:99:3944,369,0:127	1|1:0,148:148:99:4723,444,0:127	1|1:0,113:113:99:3549,338,0:127
10	134017295	.	A	G	3546.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12313;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12313" target="_blank">rs12313</a>;ExAC.Info.AC=104748;ExAC.Info.AN=125808;ExAC.Info.AF=0.833;ExAC.Info.AC_Het=16611;ExAC.Info.AC_Hom=43118;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly497Gly/c.1491A>G;snpeff.Amino_Acid_length=572;snpeff.Gene_Name=DPYSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYSL4" target="_blank">DPYSL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338492;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338492;SAVANT_GENE=DPYSL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DPYSL4" target="_blank">DPYSL4</a>;SAVANT_INFO=+/18.9kb/14/2.7kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1491A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DPYSL4+c.1491A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134017295">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,17:29:99:547,0,314:127	0/1:20,22:42:99:729,0,622:127	0/1:11,10:21:99:300,0,353:127
10	134021740	.	G	A	1969.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs923659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=923659" target="_blank">rs923659</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1359-85C>T;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298630;SAVANT_GENE=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=-/100.5kb/12/2.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1320-85C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+c.1320-85C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134021740">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,9:18:99:248,0,252:127	0/1:7,11:18:99:333,0,230:127	0/1:9,10:19:99:309,0,318:127
10	134036193	.	A	G	7926.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2818401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2818401" target="_blank">rs2818401</a>;ExAC.Info.AC=100087;ExAC.Info.AN=126400;ExAC.Info.AF=0.792;ExAC.Info.AC_Het=19654;ExAC.Info.AC_Hom=38705;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg414Arg/c.1242T>C;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298630;SAVANT_GENE=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=-/100.5kb/12/2.1kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1203T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+c.1203T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134036193">View</a>	GT:AD:DP:GQ:PL:TP	0/1:57,30:87:99:740,0,1468:127	0/1:56,44:100:99:1038,0,1588:127	0/1:42,43:85:99:1228,0,1158:127
10	134036472	.	C	A	13.13	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=25;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=A;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Gag/Tag;snpeff.Amino_Acid_Change=p.Glu351*/c.1051G>T;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;LOF=(STK32C|ENSG00000165752|1|1.00);NMD=(STK32C|ENSG00000165752|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000298630;SAVANT_GENE=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=-/100.5kb/12/2.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1012G>T_p.Glu338X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+c.1012G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134036472">View</a>	GT:AD:DP:GQ:PL:TP	0|0:5,0:5:15:0,15,163:14	0|0:12,0:12:36:0,36,400:14	0|1:6,2:8:25:25,0,180:14
10	134038031	.	G	C	1210.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs45527342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45527342" target="_blank">rs45527342</a>;ExAC.Info.AC=11574;ExAC.Info.AN=125148;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=7508;ExAC.Info.AC_Hom=537;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.916-4C>G;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.916C>G;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298630;SAVANT_GENE=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=-/100.5kb/12/2.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.877-4C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+c.877-4C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134038031">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2131:127	0|0:58,0:58:99:0,174,2093:127	0|1:25,20:45:99:624,0,691:127
10	134039132	.	G	C	2888.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=481;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2130893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2130893" target="_blank">rs2130893</a>;ExAC.Info.AC=33290;ExAC.Info.AN=126674;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=22980;ExAC.Info.AC_Hom=5087;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.722-12C>G;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298630;SAVANT_GENE=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=-/100.5kb/12/2.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.683-12C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+c.683-12C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134039132">View</a>	GT:AD:DP:GQ:PL:TP	0|0:184,0:184:99:0,552,6002:127	0|0:166,0:166:99:0,499,5492:127	0|1:71,60:131:99:1463,0,2021:127
10	134039242	.	C	T	984.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2130894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2130894" target="_blank">rs2130894</a>;ExAC.Info.AC=33070;ExAC.Info.AN=126704;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=22976;ExAC.Info.AC_Hom=5033;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.721+9G>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298630;SAVANT_GENE=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=-/100.5kb/12/2.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.682+9G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+c.682+9G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134039242">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1973:127	0|0:61,0:61:99:0,183,2203:127	0|1:28,17:45:99:511,0,931:127
10	134040290	.	C	A	3638.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2306982;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306982" target="_blank">rs2306982</a>;ExAC.Info.AC=54053;ExAC.Info.AN=125950;ExAC.Info.AF=0.429;ExAC.Info.AC_Het=29921;ExAC.Info.AC_Hom=11662;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.683+9G>T;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298630;SAVANT_GENE=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=-/100.5kb/12/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.644+9G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+c.644+9G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134040290">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,2935:127	0|0:105,0:105:99:0,316,3665:127	0|1:41,64:105:99:1838,0,1148:127
10	134143942	.	C	T	11749.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=467;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1052281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1052281" target="_blank">rs1052281</a>;ExAC.Info.AC=8172;ExAC.Info.AN=27920;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=4038;ExAC.Info.AC_Hom=1287;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.301+998G>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134143942">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,72:149:99:1830,0,2109:127	1|0:80,106:186:99:2910,0,2104:127	0|0:132,0:132:99:0,396,4632:127
10	134143985	.	G	T	20053.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=510;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1132165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1132165" target="_blank">rs1132165</a>;ExAC.Info.AC=6712;ExAC.Info.AN=24312;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=3753;ExAC.Info.AC_Hom=982;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.301+955C>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134143985">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,72:150:99:2810,0,3032:127	1|0:79,117:196:99:4695,0,2943:127	0|0:164,0:164:99:0,494,7355:127
10	134143986	.	C	T	20053.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=506;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1132164;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1132164" target="_blank">rs1132164</a>;ExAC.Info.AC=6711;ExAC.Info.AN=24250;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=3754;ExAC.Info.AC_Hom=982;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.301+954G>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134143986">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,72:149:99:2810,0,3032:127	1|0:78,118:196:99:4695,0,2943:127	0|0:161,0:161:99:0,494,7355:127
10	134145136	.	A	G	7983.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7086691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7086691" target="_blank">rs7086691</a>;ExAC.Info.AC=40589;ExAC.Info.AN=118958;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=25782;ExAC.Info.AC_Hom=7221;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly35Gly/c.105T>C;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134145136">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,44:74:99:1743,0,1254:127	1|0:28,46:74:99:1907,0,1332:127	0|0:59,0:59:99:0,178,3187:127
10	134145138	.	C	G	7983.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7080014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7080014" target="_blank">rs7080014</a>;ExAC.Info.AC=40587;ExAC.Info.AN=118960;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=25778;ExAC.Info.AC_Hom=7219;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Cgt;snpeff.Amino_Acid_Change=p.Gly35Arg/c.103G>C;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134145138">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,44:75:99:1743,0,1254:127	1|0:28,47:75:99:1907,0,1332:127	0|0:56,0:56:99:0,178,3187:127
10	134145153	.	G	A	4811.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7100410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7100410" target="_blank">rs7100410</a>;ExAC.Info.AC=25695;ExAC.Info.AN=118816;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=19102;ExAC.Info.AC_Hom=3217;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Tac;snpeff.Amino_Acid_Change=p.His30Tyr/c.88C>T;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134145153">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,41:69:99:1046,0,768:127	1|0:28,41:69:99:1164,0,872:127	0|0:56,0:56:99:0,168,2079:127
10	134145166	.	T	C	5790.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs13882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13882" target="_blank">rs13882</a>;ExAC.Info.AC=40444;ExAC.Info.AN=118510;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=25702;ExAC.Info.AC_Hom=7250;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu25Glu/c.75A>G;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134145166">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,37:63:99:1071,0,698:127	1|0:29,43:72:99:1373,0,855:127	0|0:55,0:55:99:0,165,1921:127
10	134145288	.	C	A	4594.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=117;MQ=69.92;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12778987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12778987" target="_blank">rs12778987</a>;ExAC.Info.AC=17843;ExAC.Info.AN=118206;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=14073;ExAC.Info.AC_Hom=1724;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=48;snpeff.Amino_Acid_Change=c.-48G>T;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134145288">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,14:30:99:510,0,646:123	1|0:19,27:46:99:1064,0,684:123	0|0:41,0:41:99:0,123,1906:123
10	134145293	.	G	T	4573.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=111;MQ=69.91;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12784130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12784130" target="_blank">rs12784130</a>;ExAC.Info.AC=40459;ExAC.Info.AN=118024;ExAC.Info.AF=0.343;ExAC.Info.AC_Het=25376;ExAC.Info.AC_Hom=7171;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=53;snpeff.Amino_Acid_Change=c.-53C>A;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134145293">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,13:27:99:478,0,615:125	1|0:16,26:42:99:1100,0,666:125	0|0:42,0:42:99:0,126,1950:125
10	134145314	.	A	G	812.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=91;MQ=69.89;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11146335;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11146335" target="_blank">rs11146335</a>;ExAC.Info.AC=50682;ExAC.Info.AN=117788;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=26756;ExAC.Info.AC_Hom=10932;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=74;snpeff.Amino_Acid_Change=c.-74T>C;snpeff.Amino_Acid_length=499;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368625;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134145314">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:66:0,66,795:65	0|1:20,15:35:99:425,0,795:65	0|0:36,0:36:99:0,108,1168:65
10	134145336	.	G	T	1891.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=67;MQ=69.86;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12784321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12784321" target="_blank">rs12784321</a>;ExAC.Info.AC=40315;ExAC.Info.AN=117552;ExAC.Info.AF=0.343;ExAC.Info.AC_Het=24454;ExAC.Info.AC_Hom=6968;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=STK32C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK32C" target="_blank">STK32C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK32C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134145336">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,6:15:99:189,0,289:69	1|0:12,17:29:99:484,0,475:69	0|0:23,0:23:69:0,69,828:69
10	134151034	.	A	G	5796.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2259594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2259594" target="_blank">rs2259594</a>;ExAC.Info.AC=44005;ExAC.Info.AN=126688;ExAC.Info.AF=0.347;ExAC.Info.AC_Het=27644;ExAC.Info.AC_Hom=7784;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.211-35A>G;snpeff.Amino_Acid_length=530;snpeff.Gene_Name=LRRC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC27" target="_blank">LRRC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368614;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368614;SAVANT_GENE=LRRC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC27" target="_blank">LRRC27</a>;SAVANT_INFO=+/47.7kb/11/6.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.211-35A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC27+c.211-35A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134151034">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,41:82:99:1160,0,1142:127	1|0:65,47:112:99:1437,0,1939:127	0|0:80,0:80:99:0,241,2825:127
10	134161633	.	A	G	9365.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2474328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2474328" target="_blank">rs2474328</a>;ExAC.Info.AC=99488;ExAC.Info.AN=126696;ExAC.Info.AF=0.785;ExAC.Info.AC_Het=20718;ExAC.Info.AC_Hom=39276;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro233Pro/c.699A>G;snpeff.Amino_Acid_length=530;snpeff.Gene_Name=LRRC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC27" target="_blank">LRRC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368614;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368614;SAVANT_GENE=LRRC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC27" target="_blank">LRRC27</a>;SAVANT_INFO=+/47.7kb/11/6.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.699A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC27+c.699A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134161633">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,32:70:99:827,0,1127:127	1|1:2,91:93:99:3012,230,0:127	0|0:70,0:70:99:0,210,2358:127
10	134180353	.	C	T	5921.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs45626936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=45626936" target="_blank">rs45626936</a>;ExAC.Info.AC=1944;ExAC.Info.AN=20030;ExAC.Info.AF=0.097;ExAC.Info.AC_Het=1276;ExAC.Info.AC_Hom=150;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1416+1299C>T;snpeff.Amino_Acid_length=530;snpeff.Gene_Name=LRRC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC27" target="_blank">LRRC27</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368614;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368614;SAVANT_GENE=LRRC27;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC27" target="_blank">LRRC27</a>;SAVANT_INFO=+/47.7kb/11/6.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1416+1299C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC27+c.1416+1299C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134180353">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,28:65:99:888,0,1132:127	1|0:43,55:98:99:1689,0,1381:127	0|0:71,0:71:99:0,214,2619:127
10	134218269	.	C	T	5749.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11146363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11146363" target="_blank">rs11146363</a>;ExAC.Info.AC=69328;ExAC.Info.AN=122732;ExAC.Info.AF=0.565;ExAC.Info.AC_Het=27653;ExAC.Info.AC_Hom=18895;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.265C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305233;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg89Cys/c.265C>T;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305233;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305233;SAVANT_GENE=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;SAVANT_INFO=+/20.7kb/3/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.265C>T_p.Arg89Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PWWP2B+c.265C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134218269">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:83:997,83,0:76	1|1:0,26:26:77:878,77,0:76	1|0:13,12:25:99:346,0,384:76
10	134218293	.	A	C	42.86	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=44;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;cosmic68.Histology_subtype=NS;ExAC.Info.AC=117;ExAC.Info.AN=116190;ExAC.Info.AF=1.007e-03;ExAC.Info.AC_Het=67;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.289A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305233;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Ccc;snpeff.Amino_Acid_Change=p.Thr97Pro/c.289A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305233;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305233;SAVANT_GENE=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;SAVANT_INFO=+/20.7kb/3/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.289A>C_p.Thr97Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PWWP2B+c.289A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134218293">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,772:17	0|1:13,3:16:40:40,0,369:17	0|0:8,1:9:17:0,17,250:17
10	134218296	.	C	G	1043.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=43;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10747057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10747057" target="_blank">rs10747057</a>;ExAC.Info.AC=57885;ExAC.Info.AN=115176;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=24023;ExAC.Info.AC_Hom=13646;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.292C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305233;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Ggc;snpeff.Amino_Acid_Change=p.Arg98Gly/c.292C>G;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305233;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305233;SAVANT_GENE=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;SAVANT_INFO=+/20.7kb/3/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.292C>G_p.Arg98Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PWWP2B+c.292C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134218296">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,13:18:99:410,0,135:50	0|0:17,0:17:51:0,51,657:50	1|0:3,5:8:93:132,0,93:50
10	134218307	.	A	C	83.13	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=39;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=469;ExAC.Info.AN=114188;ExAC.Info.AF=4.107e-03;ExAC.Info.AC_Het=268;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.303A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305233;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro101Pro/c.303A>C;snpeff.Amino_Acid_length=590;snpeff.Gene_Name=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305233;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305233;SAVANT_GENE=PWWP2B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PWWP2B" target="_blank">PWWP2B</a>;SAVANT_INFO=+/20.7kb/3/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.303A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PWWP2B+c.303A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134218307">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,5:17:14:14,0,290:3	0/1:11,3:14:1:1,0,320:3	0/1:5,3:8:44:44,0,106:3
10	134237276	.	T	G	6830.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=166;MQ=69.85;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1574449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1574449" target="_blank">rs1574449</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1574449" target="_blank">rs1574449</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134237276">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,28:51:99:766,0,568:127	0/1:21,31:52:99:1057,0,527:127	0/1:32,31:63:99:913,0,873:127
10	134459388	.	A	G	4091.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1133400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1133400" target="_blank">rs1133400</a>;ExAC.Info.AC=26823;ExAC.Info.AN=126694;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20500;ExAC.Info.AC_Hom=3015;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys45Arg/c.134A>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=INPP5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5A" target="_blank">INPP5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368594;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368594;SAVANT_GENE=INPP5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5A" target="_blank">INPP5A</a>;SAVANT_INFO=+/245.7kb/16/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.134A>G_p.Lys45Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5A+c.134A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134459388">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,25:43:99:761,0,507:127	0/1:29,20:49:99:533,0,886:127	0/1:22,16:38:99:429,0,698:127
10	134459536	.	T	G	215.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.218+64T>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=INPP5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5A" target="_blank">INPP5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368594;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.219T>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=INPP5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5A" target="_blank">INPP5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368594;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.219T>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=INPP5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5A" target="_blank">INPP5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368594;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368594;SAVANT_GENE=INPP5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5A" target="_blank">INPP5A</a>;SAVANT_INFO=+/245.7kb/16/3.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.218+64T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5A+c.218+64T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134459536">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,11:49:27:27,0,1053:26	0/1:31,12:43:58:58,0,922:26	0/1:27,10:37:36:36,0,810:26
10	134521983	.	A	C	38.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.527+114A>C;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=INPP5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5A" target="_blank">INPP5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368594;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368594;SAVANT_GENE=INPP5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INPP5A" target="_blank">INPP5A</a>;SAVANT_INFO=+/245.7kb/16/3.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.527+114A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INPP5A+c.527+114A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134521983">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,3:37:80:0,80,1103:37	0|1:36,13:49:38:38,0,1096:37	0|0:22,3:25:45:0,45,761:37
10	134598628	.	A	G	13551.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2804003;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2804003" target="_blank">rs2804003</a>;ExAC.Info.AC=119624;ExAC.Info.AN=124918;ExAC.Info.AF=0.958;ExAC.Info.AC_Het=4831;ExAC.Info.AC_Hom=56256;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val209Ala/c.626T>C;snpeff.Amino_Acid_length=277;snpeff.Gene_Name=NKX6-2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NKX6-2" target="_blank">NKX6-2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368592;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368592;SAVANT_GENE=NKX6-2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NKX6-2" target="_blank">NKX6-2</a>;SAVANT_INFO=-/1.3kb/3/1.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.626T>C_p.Val209Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NKX6-2+c.626T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134598628">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1494,129,0:127	1|1:0,53:53:99:1853,159,0:127	1|1:0,52:52:99:1908,156,0:127
10	134622408	.	T	C	6384.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2767434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2767434" target="_blank">rs2767434</a>;ExAC.Info.AC=82899;ExAC.Info.AN=125456;ExAC.Info.AF=0.661;ExAC.Info.AC_Het=23542;ExAC.Info.AC_Hom=25596;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg2555Arg/c.7665A>G;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7665A>G;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=58;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134622408">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,19:56:99:510,0,1002:127	0/1:29,32:61:99:959,0,853:127	0/1:31,31:62:99:957,0,925:127
10	134623959	.	T	C	9027.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2254419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2254419" target="_blank">rs2254419</a>;ExAC.Info.AC=88013;ExAC.Info.AN=126584;ExAC.Info.AF=0.695;ExAC.Info.AC_Het=24642;ExAC.Info.AC_Hom=31307;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Ggt;snpeff.Amino_Acid_Change=p.Ser2540Gly/c.7618A>G;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134623959">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,41:92:99:1084,0,1398:127	0/1:73,55:128:99:1385,0,2094:127	0/1:62,41:103:99:1079,0,1790:127
10	134624002	.	GA	G	3125.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs201771263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201771263" target="_blank">rs201771263</a>;ExAC.Info.AC=1087;ExAC.Info.AN=126560;ExAC.Info.AF=8.589e-03;ExAC.Info.AC_Het=1072;ExAC.Info.AC_Hom=4;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7584-10delT;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7584delA;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7584delA;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134624002">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,258,3875:127	0|1:66,43:109:99:1586,0,2746:127	0|0:93,0:93:99:0,279,4163:127
10	134624007	.	G	A	3126.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61860847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61860847" target="_blank">rs61860847</a>;ExAC.Info.AC=1091;ExAC.Info.AN=126524;ExAC.Info.AF=8.623e-03;ExAC.Info.AC_Het=1078;ExAC.Info.AC_Hom=4;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7584-14C>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7584G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7584G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134624007">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,262,3920:127	0|1:65,42:107:99:1582,0,2788:127	0|0:92,0:92:99:0,280,4164:127
10	134624008	.	TCCC	T	3125.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs76677206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76677206" target="_blank">rs76677206</a>;ExAC.Info.AC=1030;ExAC.Info.AN=126524;ExAC.Info.AF=8.141e-03;ExAC.Info.AC_Het=1011;ExAC.Info.AC_Hom=4;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7584-18_7584-16delGGG;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7584_7586delCCC;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7584_7586delCCC;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134624008">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,265,3965:127	0|1:65,40:105:99:1586,0,2757:127	0|0:90,0:90:99:0,277,4140:127
10	134624225	.	G	A	2452.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12416624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12416624" target="_blank">rs12416624</a>;ExAC.Info.AC=5585;ExAC.Info.AN=36376;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=2745;ExAC.Info.AC_Hom=530;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7583+229C>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7584G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7584G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134624225">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,6:11:99:229,0,326:127	0/1:9,9:18:99:331,0,448:127	0/1:13,10:23:99:381,0,655:127
10	134624232	.	G	C	2463.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=46;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12416631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12416631" target="_blank">rs12416631</a>;ExAC.Info.AC=5546;ExAC.Info.AN=36140;ExAC.Info.AF=0.153;ExAC.Info.AC_Het=2721;ExAC.Info.AC_Hom=525;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7583+222C>G;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7584G>C;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7584G>C;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134624232">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,5:10:99:229,0,326:127	0/1:8,8:16:99:331,0,448:127	0/1:10,10:20:99:387,0,583:127
10	134624504	.	C	T	1720.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2274429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2274429" target="_blank">rs2274429</a>;ExAC.Info.AC=41000;ExAC.Info.AN=125512;ExAC.Info.AF=0.327;ExAC.Info.AC_Het=23204;ExAC.Info.AC_Hom=6476;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7533C>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=57;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7533C>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala2511Ala/c.7533G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=56;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134624504">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2135:127	0|1:32,30:62:99:879,0,880:127	0|0:60,0:60:99:0,183,2067:127
10	134646988	.	C	T	11864.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4880433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4880433" target="_blank">rs4880433</a>;ExAC.Info.AC=50442;ExAC.Info.AN=126704;ExAC.Info.AF=0.398;ExAC.Info.AC_Het=28660;ExAC.Info.AC_Hom=10882;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala2331Thr/c.6991G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=50;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134646988">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,32:67:99:912,0,1070:127	1|1:0,100:100:99:3504,300,0:127	0|1:40,40:80:99:1156,0,1098:127
10	134648279	.	C	T	2186.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12356978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12356978" target="_blank">rs12356978</a>;ExAC.Info.AC=7485;ExAC.Info.AN=126616;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=6786;ExAC.Info.AC_Hom=251;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6745G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Aaa;snpeff.Amino_Acid_Change=p.Glu2249Lys/c.6745G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134648279">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,17:44:99:393,0,764:127	0|0:49,0:49:99:0,147,1722:127	1|0:20,12:32:99:286,0,593:127
10	134650440	.	T	C	9420.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3750580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750580" target="_blank">rs3750580</a>;ExAC.Info.AC=49340;ExAC.Info.AN=126626;ExAC.Info.AF=0.390;ExAC.Info.AC_Het=28054;ExAC.Info.AC_Hom=10452;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6439-22A>G;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134650440">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,35:68:99:1052,0,802:127	1|1:0,64:64:99:2257,192,0:127	0|1:26,23:49:99:648,0,687:127
10	134650461	.	C	T	2679.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72855938;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72855938" target="_blank">rs72855938</a>;ExAC.Info.AC=11;ExAC.Info.AN=126628;ExAC.Info.AF=8.687e-05;ExAC.Info.AC_Het=9;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6439-43G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134650461">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,22:53:99:549,0,977:127	0|0:52,0:52:99:0,156,1904:127	1|0:22,16:38:99:424,0,598:127
10	134664875	.	A	G	10407.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7913626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7913626" target="_blank">rs7913626</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5575-66T>C;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134664875">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1960,171,0:77	1|1:0,52:52:99:1821,156,0:77	1|1:0,26:26:78:975,78,0:77
10	134682855	.	C	T	6897.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7908950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7908950" target="_blank">rs7908950</a>;ExAC.Info.AC=7378;ExAC.Info.AN=23468;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=3580;ExAC.Info.AC_Hom=1145;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu1511Glu/c.4533G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134682855">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,25:57:99:632,0,966:127	1|1:0,54:54:99:1683,162,0:127	0|1:15,22:37:99:661,0,482:127
10	134713176	.	G	A	4254.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs67123080;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67123080" target="_blank">rs67123080</a>;ExAC.Info.AC=1142;ExAC.Info.AN=23740;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=880;ExAC.Info.AC_Hom=34;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2925-6C>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2925C>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134713176">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,31:58:99:825,0,760:127	0|0:69,0:69:99:0,207,2384:127	1|0:26,25:51:99:701,0,727:127
10	134722022	.	A	G	14823.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=167;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7075277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7075277" target="_blank">rs7075277</a>;ExAC.Info.AC=10997;ExAC.Info.AN=21870;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=4216;ExAC.Info.AC_Hom=2830;snpeff.Effect=sequence_feature[repeat:TPR_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2874A>G;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys958Cys/c.2874T>C;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134722022">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1592,138,0:127	1|1:0,70:70:99:2300,210,0:127	1|1:0,51:51:99:1607,153,0:127
10	134726621	.	G	C	10669.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs4880467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4880467" target="_blank">rs4880467</a>;ExAC.Info.AC=6565;ExAC.Info.AN=21928;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=3625;ExAC.Info.AC_Hom=979;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcG;snpeff.Amino_Acid_Change=p.Ala754Ala/c.2262C>G;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134726621">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,28:47:99:905,0,494:127	1|1:1,74:75:99:2736,187,0:127	0|1:32,34:66:99:955,0,863:127
10	134732035	.	T	G	6413.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=300;MQ=69.83;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12049725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12049725" target="_blank">rs12049725</a>;ExAC.Info.AC=521;ExAC.Info.AN=22248;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=436;ExAC.Info.AC_Hom=9;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1859-11A>C;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134732035">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,48:90:99:1236,0,1089:127	0|0:121,0:121:99:0,363,3849:127	1|0:48,41:89:99:1028,0,1379:127
10	134735672	.	A	G	13581.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs7915371;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7915371" target="_blank">rs7915371</a>;ExAC.Info.AC=13199;ExAC.Info.AN=27174;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=5457;ExAC.Info.AC_Hom=3062;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn514Asn/c.1542T>C;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134735672">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:1952,174,0:127	1|1:0,76:76:99:2466,228,0:127	1|0:14,22:36:99:677,0,399:127
10	134736026	.	G	A	2504.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4880286;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4880286" target="_blank">rs4880286</a>;ExAC.Info.AC=7030;ExAC.Info.AN=22010;ExAC.Info.AF=0.319;ExAC.Info.AC_Het=3674;ExAC.Info.AC_Hom=1093;snpeff.Effect=sequence_feature[repeat:TPR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1443G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1443G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala481Ala/c.1443C>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134736026">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,7:20:99:196,0,394:74	1|1:0,25:25:75:895,75,0:74	0|0:30,0:30:90:0,90,1103:74
10	134736044	.	G	A	2492.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11146040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11146040" target="_blank">rs11146040</a>;ExAC.Info.AC=474;ExAC.Info.AN=23456;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=299;ExAC.Info.AC_Hom=7;snpeff.Effect=sequence_feature[repeat:TPR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1425G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys475Cys/c.1425C>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134736044">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,14:22:99:416,0,294:84	0|0:24,0:24:84:0,84,1221:84	1|0:11,22:33:99:605,0,288:84
10	134736052	.	G	T	3084.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4880287;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4880287" target="_blank">rs4880287</a>;ExAC.Info.AC=7266;ExAC.Info.AN=22232;ExAC.Info.AF=0.327;ExAC.Info.AC_Het=3680;ExAC.Info.AC_Hom=1094;snpeff.Effect=sequence_feature[repeat:TPR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1417G>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1417G>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Agt;snpeff.Amino_Acid_Change=p.Arg473Ser/c.1417C>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134736052">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,8:23:99:214,0,592:79	1|1:1,29:30:80:1046,80,0:79	0|0:36,0:36:99:0,108,1423:79
10	134736076	.	T	G	7634.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4880288;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4880288" target="_blank">rs4880288</a>;ExAC.Info.AC=10294;ExAC.Info.AN=21920;ExAC.Info.AF=0.470;ExAC.Info.AC_Het=3757;ExAC.Info.AC_Hom=2171;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Ctc;snpeff.Amino_Acid_Change=p.Ile465Leu/c.1393A>C;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134736076">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:1028,84,0:83	1|1:0,31:31:93:1151,93,0:83	1|0:10,30:40:99:854,0,168:83
10	134738232	.	A	G	7594.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=101;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4075501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4075501" target="_blank">rs4075501</a>;ExAC.Info.AC=9269;ExAC.Info.AN=22068;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=3513;ExAC.Info.AC_Hom=1671;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala408Ala/c.1224T>C;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134738232">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:823,69,0:68	1|1:0,44:44:99:1472,132,0:68	1|0:11,23:34:99:588,0,328:68
10	134738385	.	C	G	4270.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11146047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11146047" target="_blank">rs11146047</a>;ExAC.Info.AC=292;ExAC.Info.AN=20992;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=118;ExAC.Info.AC_Hom=3;snpeff.Effect=sequence_feature[repeat:TPR_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071C>G;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071C>G;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caC;snpeff.Amino_Acid_Change=p.Gln357His/c.1071G>C;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134738385">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,23:37:99:657,0,355:127	0|0:72,1:73:99:0,180,2632:127	1|0:16,29:45:99:862,0,425:127
10	134740618	.	G	C	9433.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7071677;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7071677" target="_blank">rs7071677</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.967-448C>G;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC40+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134740618">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,30:65:99:889,0,1134:127	1|1:0,81:81:99:3222,244,0:127	0|0:59,0:59:99:0,177,2287:127
10	134748331	.	C	T	7060.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12781609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12781609" target="_blank">rs12781609</a>;ExAC.Info.AC=50847;ExAC.Info.AN=126696;ExAC.Info.AF=0.401;ExAC.Info.AC_Het=29384;ExAC.Info.AC_Hom=10690;snpeff.Effect=sequence_feature[repeat:TPR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791C>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser264Asn/c.791G>A;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368585;SAVANT_GENE=C10orf93;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf93" target="_blank">C10orf93</a>;SAVANT_INFO=-/13.6kb/9/1.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.791G>A_p.Ser264Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf93+c.791G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134748331">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,26:52:99:702,0,648:127	1|1:0,85:85:99:2675,255,0:127	0|0:54,0:54:99:0,162,1848:127
10	134750604	.	C	A	9732.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10870211;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10870211" target="_blank">rs10870211</a>;ExAC.Info.AC=117062;ExAC.Info.AN=119254;ExAC.Info.AF=0.982;ExAC.Info.AC_Het=790;ExAC.Info.AC_Hom=25468;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.661-45G>T;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368585;SAVANT_GENE=C10orf93;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf93" target="_blank">C10orf93</a>;SAVANT_INFO=-/13.6kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.661-45G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf93+c.661-45G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134750604">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1290,99,0:113	1|1:0,48:48:99:1884,144,0:113	1|1:0,38:38:99:1514,114,0:113
10	134756013	.	T	C	2597.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7898115;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7898115" target="_blank">rs7898115</a>;ExAC.Info.AC=3498;ExAC.Info.AN=13020;ExAC.Info.AF=0.269;ExAC.Info.AC_Het=389;ExAC.Info.AC_Hom=157;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=25;snpeff.Amino_Acid_Change=c.-25A>G;snpeff.Amino_Acid_length=2715;snpeff.Gene_Name=TTC40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC40" target="_blank">TTC40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368586;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368585;SAVANT_GENE=C10orf93;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C10orf93" target="_blank">C10orf93</a>;SAVANT_INFO=-/13.6kb/9/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-25A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C10orf93+c.-25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134756013">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,12:28:99:305,0,461:65	1|1:0,22:22:66:764,66,0:65	0|0:31,0:31:93:0,93,996:65
10	134884516	.	G	A	3929.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4271312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4271312" target="_blank">rs4271312</a>;ExAC.Info.AC=70832;ExAC.Info.AN=123088;ExAC.Info.AF=0.575;ExAC.Info.AC_Het=28321;ExAC.Info.AC_Hom=19725;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala28Ala/c.84G>A;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR123+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134884516">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,18:34:99:473,0,406:93	1|0:24,37:61:99:1034,0,618:93	0|0:31,0:31:93:0,93,1073:93
10	134884546	.	A	G	3499.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4576736;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4576736" target="_blank">rs4576736</a>;ExAC.Info.AC=70430;ExAC.Info.AN=122802;ExAC.Info.AF=0.574;ExAC.Info.AC_Het=28014;ExAC.Info.AC_Hom=19331;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr38Thr/c.114A>G;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR123+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134884546">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,14:33:99:404,0,568:81	1|0:24,30:54:99:813,0,576:81	0|0:27,0:27:81:0,81,916:81
10	134884595	.	G	A	2910.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4271313;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4271313" target="_blank">rs4271313</a>;ExAC.Info.AC=70406;ExAC.Info.AN=122898;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=27558;ExAC.Info.AC_Hom=18848;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly55Ser/c.163G>A;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR123+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134884595">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,10:35:99:258,0,722:81	1|0:23,17:40:99:494,0,677:81	0|0:27,0:27:81:0,81,992:81
10	134884610	.	C	G	2906.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4486541;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4486541" target="_blank">rs4486541</a>;ExAC.Info.AC=70116;ExAC.Info.AN=122844;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=26638;ExAC.Info.AC_Hom=17818;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Ggg;snpeff.Amino_Acid_Change=p.Arg60Gly/c.178C>G;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR123+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134884610">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,13:36:99:357,0,594:87	1|0:24,17:41:99:477,0,622:87	0|0:29,0:29:87:0,87,1068:87
10	134902396	.	C	G	8920.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10776692;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10776692" target="_blank">rs10776692</a>;ExAC.Info.AC=38281;ExAC.Info.AN=87460;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=2439;ExAC.Info.AC_Hom=1559;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Ggc;snpeff.Amino_Acid_Change=p.Arg539Gly/c.1615C>G;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392607;SAVANT_GENE=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;SAVANT_INFO=+/43.8kb/7/4.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-18C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR123+c.-18C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134902396">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,34:68:99:1430,0,2410:127	1|0:39,37:76:99:1463,0,2665:127	0|0:63,0:63:99:0,199,4595:127
10	134902398	.	C	T	8920.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10776693;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10776693" target="_blank">rs10776693</a>;ExAC.Info.AC=45390;ExAC.Info.AN=86498;ExAC.Info.AF=0.525;ExAC.Info.AC_Het=2233;ExAC.Info.AC_Hom=2501;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg539Arg/c.1617C>T;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392607;SAVANT_GENE=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;SAVANT_INFO=+/43.8kb/7/4.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-16C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR123+c.-16C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134902398">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,37:72:99:1430,0,2410:127	1|0:37,38:75:99:1463,0,2665:127	0|0:66,0:66:99:0,199,4595:127
10	134910629	.	G	A	3258.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11101914;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11101914" target="_blank">rs11101914</a>;ExAC.Info.AC=40557;ExAC.Info.AN=126676;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=25635;ExAC.Info.AC_Hom=7336;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2291+24G>A;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2292G>A;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2292G>A;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392607;SAVANT_GENE=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;SAVANT_INFO=+/43.8kb/7/4.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.131+24G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR123+c.131+24G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134910629">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,22:41:99:610,0,549:127	1|0:33,28:61:99:716,0,1040:127	0|0:46,0:46:99:0,138,1841:127
10	134915832	.	C	T	6142.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=232;MQ=69.95;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9419103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9419103" target="_blank">rs9419103</a>;ExAC.Info.AC=14626;ExAC.Info.AN=117544;ExAC.Info.AF=0.124;ExAC.Info.AC_Het=8989;ExAC.Info.AC_Hom=735;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2416-369C>T;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2416C>T;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2416C>T;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392607;SAVANT_GENE=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;SAVANT_INFO=+/43.8kb/7/4.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.256-369C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR123+c.256-369C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134915832">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,56:92:99:1448,0,1065:127	1|0:39,40:79:99:1204,0,1152:127	0|0:61,0:61:99:0,183,2145:127
10	134942166	.	A	G	13793.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2806452;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2806452" target="_blank">rs2806452</a>;ExAC.Info.AC=53765;ExAC.Info.AN=123746;ExAC.Info.AF=0.434;ExAC.Info.AC_Het=27008;ExAC.Info.AC_Hom=11845;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2991A>G;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser997Ser/c.2991A>G;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392607;SAVANT_GENE=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;SAVANT_INFO=+/43.8kb/7/4.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.834A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR123+c.834A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134942166">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2155,207,0:127	1|0:45,51:96:99:1390,0,1266:127	1|0:49,38:87:99:923,0,1291:127
10	134942319	.	C	T	6366.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2806453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2806453" target="_blank">rs2806453</a>;ExAC.Info.AC=6889;ExAC.Info.AN=121678;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=6017;ExAC.Info.AC_Hom=300;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3144C>T;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro1048Pro/c.3144C>T;snpeff.Amino_Acid_length=1279;snpeff.Gene_Name=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000607359;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000392607;SAVANT_GENE=GPR123;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR123" target="_blank">GPR123</a>;SAVANT_INFO=+/43.8kb/7/4.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.987C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR123+c.987C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134942319">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,41:73:99:1245,0,964:127	1|0:39,43:82:99:1389,0,1123:127	0|0:69,0:69:99:0,207,2400:127
10	134973995	.	G	A	8902.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs71503783;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71503783" target="_blank">rs71503783</a>;ExAC.Info.AC=29993;ExAC.Info.AN=121424;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=15721;ExAC.Info.AC_Hom=2935;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala8Ala/c.24G>A;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.24G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.24G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134973995">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1670,150,0:127	1|0:32,23:55:99:595,0,912:127	1|0:10,19:29:99:518,0,262:127
10	134981837	.	T	C	18007.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=325;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2998151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2998151" target="_blank">rs2998151</a>;ExAC.Info.AC=83848;ExAC.Info.AN=126684;ExAC.Info.AF=0.662;ExAC.Info.AC_Het=27575;ExAC.Info.AC_Hom=28046;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.360+21T>C;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.360+21T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.360+21T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134981837">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3633,309,0:127	1|0:55,57:112:99:1693,0,1525:127	1|0:47,63:110:99:1582,0,1282:127
10	134997480	.	C	T	4726.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=146;MQ=70.09;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs57510763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57510763" target="_blank">rs57510763</a>;ExAC.Info.AC=58767;ExAC.Info.AN=126618;ExAC.Info.AF=0.464;ExAC.Info.AC_Het=29339;ExAC.Info.AC_Hom=14327;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe204Phe/c.612C>T;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.612C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.612C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134997480">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,18:40:99:513,0,637:127	0/1:33,34:67:99:976,0,890:127	0/1:21,18:39:99:497,0,592:127
10	134997514	.	A	G	6196.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=128;MQ=70.10;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs67800134;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67800134" target="_blank">rs67800134</a>;ExAC.Info.AC=58107;ExAC.Info.AN=126292;ExAC.Info.AF=0.460;ExAC.Info.AC_Het=28335;ExAC.Info.AC_Hom=13365;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.625+21A>G;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.625+21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.625+21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134997514">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,18:39:99:702,0,891:127	0/1:30,30:60:99:1115,0,1142:127	0/1:12,17:29:99:632,0,487:127
10	134997524	.	T	TCTTG	5906.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=125;MQ=70.10;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs138319019;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138319019" target="_blank">rs138319019</a>;ExAC.Info.AC=57269;ExAC.Info.AN=126168;ExAC.Info.AF=0.454;ExAC.Info.AC_Het=28188;ExAC.Info.AC_Hom=12028;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.625+32_625+33insCTTG;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.625+32_625+33insTTGC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.625+32_625+33insTTGC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134997524">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,17:39:99:724,0,891:127	0/1:31,28:59:99:1124,0,1200:127	0/1:13,14:27:99:549,0,504:127
10	134999602	.	G	C	10241.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3008393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008393" target="_blank">rs3008393</a>;ExAC.Info.AC=98377;ExAC.Info.AN=120428;ExAC.Info.AF=0.817;ExAC.Info.AC_Het=12569;ExAC.Info.AC_Hom=30278;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acC;snpeff.Amino_Acid_Change=p.Thr250Thr/c.750G>C;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.750G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.750G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:134999602">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1550,129,0:110	1|0:17,28:45:99:852,0,424:110	1|1:0,37:37:99:1377,111,0:110
10	135000148	.	T	C	13584.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3810965;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3810965" target="_blank">rs3810965</a>;ExAC.Info.AC=57025;ExAC.Info.AN=124696;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=28001;ExAC.Info.AC_Hom=13617;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala432Ala/c.1296T>C;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1296T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.1296T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135000148">View</a>	GT:AD:DP:GQ:PL:TP	0/1:52,53:105:99:1508,0,1337:127	0/1:71,62:133:99:1847,0,2028:127	0/1:52,69:121:99:1993,0,1386:127
10	135000159	.	A	G	12663.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3810964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3810964" target="_blank">rs3810964</a>;ExAC.Info.AC=56913;ExAC.Info.AN=124488;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=27755;ExAC.Info.AC_Hom=13428;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu436Gly/c.1307A>G;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1307A>G_p.Glu436Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.1307A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135000159">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,46:95:99:1291,0,1293:127	0/1:70,57:127:99:1619,0,1867:127	0/1:43,69:112:99:2069,0,1184:127
10	135010568	.	G	A	1780.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35152544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35152544" target="_blank">rs35152544</a>;ExAC.Info.AC=6508;ExAC.Info.AN=126600;ExAC.Info.AF=0.051;ExAC.Info.AC_Het=6010;ExAC.Info.AC_Hom=216;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly581Ser/c.1741G>A;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1741G>A_p.Gly581Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.1741G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135010568">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2091:127	0|0:89,0:89:99:0,268,3175:127	0|1:30,32:62:99:909,0,842:127
10	135012162	.	T	C	5159.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2998139;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2998139" target="_blank">rs2998139</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=65525;ExAC.Info.AN=122328;ExAC.Info.AF=0.536;ExAC.Info.AC_Het=22810;ExAC.Info.AC_Hom=14385;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu717Pro/c.2150T>C;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2150T>C_p.Leu717Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.2150T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135012162">View</a>	GT:AD:DP:GQ:PL:TP	0|1:16,17:33:99:434,0,410:127	1|1:0,48:48:99:1628,144,0:127	0|1:21,13:34:99:342,0,649:127
10	135012429	.	T	A	3500.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3008390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008390" target="_blank">rs3008390</a>;ExAC.Info.AC=44674;ExAC.Info.AN=112500;ExAC.Info.AF=0.397;ExAC.Info.AC_Het=15356;ExAC.Info.AC_Hom=5945;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTt/gAt;snpeff.Amino_Acid_Change=p.Val806Asp/c.2417T>A;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2417T>A_p.Val806Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.2417T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135012429">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,13:24:99:373,0,524:82	1|1:0,28:28:84:1020,84,0:82	0|0:29,0:29:87:0,87,1328:82
10	135012430	.	T	C	5841.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3008389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008389" target="_blank">rs3008389</a>;ExAC.Info.AC=55464;ExAC.Info.AN=111910;ExAC.Info.AF=0.496;ExAC.Info.AC_Het=15652;ExAC.Info.AC_Hom=8614;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val806Val/c.2418T>C;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2418T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.2418T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135012430">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,13:24:99:513,0,300:84	1|1:0,28:28:84:1260,84,0:84	0|1:13,16:29:99:538,0,387:84
10	135012652	.	T	C	8289.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3008388;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008388" target="_blank">rs3008388</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=42999;ExAC.Info.AN=119986;ExAC.Info.AF=0.358;ExAC.Info.AC_Het=16426;ExAC.Info.AC_Hom=5332;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp880Asp/c.2640T>C;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2640T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.2640T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135012652">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,31:71:99:726,0,1043:127	1|1:0,69:69:99:2276,204,0:127	0|0:95,0:95:99:0,285,3038:127
10	135013871	.	G	A	3440.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs62623421;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62623421" target="_blank">rs62623421</a>;ExAC.Info.AC=7950;ExAC.Info.AN=124866;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=6378;ExAC.Info.AC_Hom=389;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2910-8G>A;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2910G>A;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2904-8G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.2904-8G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135013871">View</a>	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,369,3973:127	0|0:128,0:128:99:0,385,4359:127	0|1:77,66:143:99:1739,0,2018:127
10	135015427	.	C	A	9200.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs9418941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9418941" target="_blank">rs9418941</a>;ExAC.Info.AC=31178;ExAC.Info.AN=69028;ExAC.Info.AF=0.452;ExAC.Info.AC_Het=2132;ExAC.Info.AC_Hom=1860;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3393+25C>A;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3387+25C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.3387+25C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135015427">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,38:62:99:1083,0,574:127	1|1:0,68:68:99:2316,204,0:127	0|1:30,22:52:99:714,0,853:127
10	135015667	.	C	T	17305.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs9419023;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9419023" target="_blank">rs9419023</a>;ExAC.Info.AC=8242;ExAC.Info.AN=18608;ExAC.Info.AF=0.443;ExAC.Info.AC_Het=3245;ExAC.Info.AC_Hom=1972;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3393+265C>T;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3387+265C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.3387+265C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135015667">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,70:130:99:2039,0,1710:127	1|1:0,163:163:99:5734,490,0:127	0|0:116,0:116:99:0,348,3801:127
10	135016089	.	T	C	9434.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3008386;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008386" target="_blank">rs3008386</a>;ExAC.Info.AC=9296;ExAC.Info.AN=16956;ExAC.Info.AF=0.548;ExAC.Info.AC_Het=3168;ExAC.Info.AC_Hom=2573;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3393+687T>C;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3387+687T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.3387+687T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135016089">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,27:48:99:780,0,519:127	1|1:0,69:69:99:2504,207,0:127	0|1:37,24:61:99:702,0,1086:127
10	135016175	.	T	G	10223.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3008385;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008385" target="_blank">rs3008385</a>;ExAC.Info.AC=9960;ExAC.Info.AN=19902;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=3186;ExAC.Info.AC_Hom=2603;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3393+773T>G;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.3387+773T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.3387+773T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135016175">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,33:64:99:872,0,772:127	1|1:0,79:79:99:2803,237,0:127	0|1:43,26:69:99:601,0,1329:127
10	135020315	.	T	C	19947.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3008375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008375" target="_blank">rs3008375</a>;ExAC.Info.AC=105053;ExAC.Info.AN=126670;ExAC.Info.AF=0.829;ExAC.Info.AC_Het=17314;ExAC.Info.AC_Hom=43722;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3487+33T>C;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.3481+33T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.3481+33T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135020315">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2801,246,0:127	1|1:0,87:87:99:3098,262,0:127	1|1:0,76:76:99:2663,228,0:127
10	135032376	.	A	G	9214.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=406;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3008370;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008370" target="_blank">rs3008370</a>;ExAC.Info.AC=14532;ExAC.Info.AN=126700;ExAC.Info.AF=0.115;ExAC.Info.AC_Het=12567;ExAC.Info.AC_Hom=974;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys1575Lys/c.4725A>G;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.4719A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.4719A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135032376">View</a>	GT:AD:DP:GQ:PL:TP	0|1:75,49:124:99:1384,0,2013:127	1|0:73,63:136:99:1682,0,2057:127	0|0:146,0:146:99:0,438,4690:127
10	135032475	.	C	A	2446.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72859893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72859893" target="_blank">rs72859893</a>;ExAC.Info.AC=6228;ExAC.Info.AN=126664;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5710;ExAC.Info.AC_Hom=244;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4806+18C>A;snpeff.Amino_Acid_length=1751;snpeff.Gene_Name=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368572;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304613;SAVANT_GENE=KNDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KNDC1" target="_blank">KNDC1</a>;SAVANT_INFO=+/66.0kb/30/6.8kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.4800+18C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KNDC1+c.4800+18C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135032475">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,245,2928:127	0|0:106,1:107:99:0,310,3778:127	0|1:35,43:78:99:1242,0,1132:127
10	135044357	.	G	A	328.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs150663748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150663748" target="_blank">rs150663748</a>;ExAC.Info.AC=400;ExAC.Info.AN=22608;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.550+15G>A;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304477;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.551G>A;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.551G>A;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304477;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304477;SAVANT_GENE=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;SAVANT_INFO=+/1.3kb/2/1.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.550+15G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UTF1+c.550+15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135044357">View</a>	GT:AD:DP:GQ:PL:TP	0|0:21,0:21:63:0,63,784:53	0|0:18,0:18:54:0,54,693:53	0|1:10,6:16:99:183,0,362:53
10	135044391	.	C	T	52.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=30;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=72;ExAC.Info.AN=22284;ExAC.Info.AF=3.231e-03;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.550+49C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304477;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.551C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.551C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304477;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304477;SAVANT_GENE=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;SAVANT_INFO=+/1.3kb/2/1.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.550+49C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UTF1+c.550+49C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135044391">View</a>	GT:AD:DP:GQ:PL:TP	0|0:10,0:10:30:0,30,395:28	0|0:12,0:12:36:0,36,489:28	0|1:6,2:8:45:45,0,192:28
10	135045022	.	C	T	10543.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2998111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2998111" target="_blank">rs2998111</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=76;snpeff.Amino_Acid_Change=c.*76C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304477;SAVANT_GENE=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;SAVANT_INFO=+/1.3kb/2/1.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*76C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UTF1+c.*76C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135045022">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1595,144,0:127	1|1:0,57:57:99:1995,171,0:127	1|0:16,20:36:99:640,0,490:127
10	135045035	.	T	C	13592.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3008362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008362" target="_blank">rs3008362</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=89;snpeff.Amino_Acid_Change=c.*89T>C;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000304477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000304477;SAVANT_GENE=UTF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTF1" target="_blank">UTF1</a>;SAVANT_INFO=+/1.3kb/2/1.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*89T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UTF1+c.*89T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135045035">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1703,141,0:127	1|1:0,64:64:99:2235,192,0:127	1|1:0,44:44:99:1582,131,0:127
10	135051562	.	A	G	563.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2998143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2998143" target="_blank">rs2998143</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=80416;ExAC.Info.AN=120406;ExAC.Info.AF=0.668;ExAC.Info.AC_Het=16952;ExAC.Info.AC_Hom=21632;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro48Pro/c.144A>G;snpeff.Amino_Acid_length=258;snpeff.Gene_Name=VENTX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VENTX" target="_blank">VENTX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325980;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325980;SAVANT_GENE=VENTX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VENTX" target="_blank">VENTX</a>;SAVANT_INFO=+/4.3kb/3/2.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.144A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VENTX+c.144A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135051562">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,967:88	0|1:13,8:21:99:207,0,335:88	0|1:15,4:19:94:94,0,469:88
10	135061112	.	C	T	6145.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs12355840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12355840" target="_blank">rs12355840</a>;ExAC.Info.AC=19566;ExAC.Info.AN=26938;ExAC.Info.AF=0.726;ExAC.Info.AC_Het=3474;ExAC.Info.AC_Hom=7351;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.101+183G>A;snpeff.Gene_Name=MIR202;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR202" target="_blank">MIR202</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000553459;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR202" target="_blank">MIR202</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MIR202+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135061112">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:1053,81,0:68	1|1:0,23:23:69:924,69,0:68	1|0:9,12:21:99:380,0,266:68
10	135076596	.	T	C	16070.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2230576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230576" target="_blank">rs2230576</a>;ExAC.Info.AC=105299;ExAC.Info.AN=126702;ExAC.Info.AF=0.831;ExAC.Info.AC_Het=15662;ExAC.Info.AC_Hom=44795;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=64;snpeff.Amino_Acid_Change=c.*64A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*64A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.*64A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135076596">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1695,156,0:127	1|1:0,71:71:99:2477,213,0:127	1|1:0,66:66:99:2078,198,0:127
10	135076758	.	T	C	10010.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3008318;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008318" target="_blank">rs3008318</a>;ExAC.Info.AC=112458;ExAC.Info.AN=126438;ExAC.Info.AF=0.889;ExAC.Info.AC_Het=10730;ExAC.Info.AC_Hom=45140;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2398-21A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2398T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2398T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2398T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2398T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2398T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2398-21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.2398-21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135076758">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1337,117,0:92	1|1:0,45:45:99:1732,135,0:92	1|1:0,31:31:93:1141,93,0:92
10	135077311	.	C	G	18971.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2995301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2995301" target="_blank">rs2995301</a>;ExAC.Info.AC=95997;ExAC.Info.AN=111324;ExAC.Info.AF=0.862;ExAC.Info.AC_Het=2332;ExAC.Info.AC_Hom=10262;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2320-42G>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2320C>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2320C>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2320C>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2320C>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2320C>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2320-42G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.2320-42G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135077311">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2060,192,0:127	1|1:0,77:77:99:2610,231,0:127	1|1:0,57:57:99:1933,171,0:127
10	135081684	.	T	C	3485.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=43;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2995309;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2995309" target="_blank">rs2995309</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2064-62A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2064T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2064T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2064T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2064T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2064T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2064-62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.2064-62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135081684">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,13:13:39:468,39,0:41	1|1:0,14:14:42:495,42,0:41	1|1:0,16:16:48:492,48,0:41
10	135082346	.	A	G	22081.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2275720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275720" target="_blank">rs2275720</a>;ExAC.Info.AC=108118;ExAC.Info.AN=125784;ExAC.Info.AF=0.860;ExAC.Info.AC_Het=14172;ExAC.Info.AC_Hom=45800;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1969A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe657Leu/c.1969T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.1969T>C_p.Phe657Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.1969T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135082346">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2796,252,0:127	1|1:0,87:87:99:2906,261,0:127	1|1:0,83:83:99:2752,249,0:127
10	135082874	.	G	A	11143.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2995311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2995311" target="_blank">rs2995311</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1948+75C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1949G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1948+75C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.1948+75C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135082874">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:1861,180,0:112	1|1:0,39:39:99:1375,117,0:112	1|1:0,38:38:99:1325,114,0:112
10	135084232	.	C	CAGA	10668.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5789159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5789159" target="_blank">rs5789159</a>;ExAC.Info.AC=108463;ExAC.Info.AN=124688;ExAC.Info.AF=0.870;ExAC.Info.AC_Het=12481;ExAC.Info.AC_Hom=43125;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1634+8_1634+7insTCT;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insAGA;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1635_1636insTCT;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1634+7_1634+8insTCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.1634+7_1634+8insTCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135084232">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:90:1333,90,0:95	1|1:0,36:36:99:1726,117,0:95	1|1:0,31:31:96:1433,96,0:95
10	135084322	.	A	G	12800.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3008321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008321" target="_blank">rs3008321</a>;ExAC.Info.AC=111561;ExAC.Info.AN=124754;ExAC.Info.AF=0.894;ExAC.Info.AC_Het=11066;ExAC.Info.AC_Hom=48178;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1565-13T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1565A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1565-13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.1565-13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135084322">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1724,141,0:127	1|1:0,57:57:99:1953,171,0:127	1|1:0,45:45:99:1542,134,0:127
10	135084601	.	T	C	20107.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2995314;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2995314" target="_blank">rs2995314</a>;ExAC.Info.AC=112394;ExAC.Info.AN=125356;ExAC.Info.AF=0.897;ExAC.Info.AC_Het=10968;ExAC.Info.AC_Hom=48937;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1375-27A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Disintegrin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Disintegrin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Disintegrin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1375T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1375-27A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.1375-27A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135084601">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2710,240,0:127	1|1:0,76:76:99:2714,229,0:127	1|1:2,79:81:99:2656,194,0:127
10	135085321	.	C	T	14985.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1131720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131720" target="_blank">rs1131720</a>;ExAC.Info.AC=109403;ExAC.Info.AN=125044;ExAC.Info.AF=0.875;ExAC.Info.AC_Het=12787;ExAC.Info.AC_Hom=46730;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala365Ala/c.1095G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1095G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.1095G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135085321">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2075,183,0:127	1|1:0,67:67:99:2373,201,0:127	1|1:0,43:43:99:1583,129,0:127
10	135085426	.	A	G	22105.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1131719;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131719" target="_blank">rs1131719</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=113069;ExAC.Info.AN=125396;ExAC.Info.AF=0.902;ExAC.Info.AC_Het=10644;ExAC.Info.AC_Hom=50396;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.990A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys330Cys/c.990T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.990T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.990T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135085426">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2797,234,0:127	1|1:1,93:94:99:3435,272,0:127	1|1:0,70:70:99:2467,210,0:127
10	135085754	.	G	A	21489.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1131718;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131718" target="_blank">rs1131718</a>;ExAC.Info.AC=43454;ExAC.Info.AN=53110;ExAC.Info.AF=0.818;ExAC.Info.AC_Het=2183;ExAC.Info.AC_Hom=7829;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.900G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr300Thr/c.900C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.900C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.900C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135085754">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2460,222,0:127	1|1:0,99:99:99:3540,298,0:127	1|1:0,82:82:99:2714,246,0:127
10	135086380	.	C	T	7738.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3008324;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008324" target="_blank">rs3008324</a>;ExAC.Info.AC=111777;ExAC.Info.AN=125246;ExAC.Info.AF=0.892;ExAC.Info.AC_Het=11538;ExAC.Info.AC_Hom=48941;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.637-10G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_M12B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.637-10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.637-10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135086380">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1010,87,0:74	1|1:0,30:30:90:1086,90,0:74	1|1:0,25:25:75:936,75,0:74
10	135087521	.	G	A	19482.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3008326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008326" target="_blank">rs3008326</a>;ExAC.Info.AC=99071;ExAC.Info.AN=124560;ExAC.Info.AF=0.795;ExAC.Info.AC_Het=16118;ExAC.Info.AC_Hom=36509;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240G>A;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly80Gly/c.240C>T;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.240C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.240C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135087521">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2110,201,0:127	1|1:1,92:93:99:3058,269,0:127	1|1:0,60:60:99:1970,180,0:127
10	135089035	.	A	G	17623.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2275725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2275725" target="_blank">rs2275725</a>;ExAC.Info.AC=84764;ExAC.Info.AN=98452;ExAC.Info.AF=0.861;ExAC.Info.AC_Het=2500;ExAC.Info.AC_Hom=11263;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.103A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp35Arg/c.103T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.103T>C_p.Trp35Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.103T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135089035">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2333,207,0:127	1|1:0,86:86:99:2772,258,0:127	1|1:0,58:58:99:1954,174,0:127
10	135090183	.	A	G	5414.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=60;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2995317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2995317" target="_blank">rs2995317</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.46+93T>C;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47A>G;snpeff.Amino_Acid_length=824;snpeff.Gene_Name=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000445355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000445355;SAVANT_GENE=ADAM8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM8" target="_blank">ADAM8</a>;SAVANT_INFO=-/14.5kb/23/3.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.46+93T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADAM8+c.46+93T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135090183">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:68:796,68,0:41	1|1:0,14:14:42:520,42,0:41	1|1:0,23:23:69:849,69,0:41
10	135097434	.	A	G	22422.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2995326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2995326" target="_blank">rs2995326</a>;ExAC.Info.AC=113623;ExAC.Info.AN=126704;ExAC.Info.AF=0.897;ExAC.Info.AC_Het=11515;ExAC.Info.AC_Hom=51034;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe727Phe/c.2181T>C;snpeff.Amino_Acid_length=930;snpeff.Gene_Name=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543663;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368563;SAVANT_GENE=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;SAVANT_INFO=-/29.5kb/18/3.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2097T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUBGCP2+c.2097T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135097434">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:2941,285,0:127	1|1:0,103:103:99:3408,309,0:127	1|1:0,82:82:99:2751,246,0:127
10	135098672	.	G	A	26709.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3008334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008334" target="_blank">rs3008334</a>;ExAC.Info.AC=113025;ExAC.Info.AN=126682;ExAC.Info.AF=0.892;ExAC.Info.AC_Het=11940;ExAC.Info.AC_Hom=50359;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr675Tyr/c.2025C>T;snpeff.Amino_Acid_length=930;snpeff.Gene_Name=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543663;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368563;SAVANT_GENE=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;SAVANT_INFO=-/29.5kb/18/3.2kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1941C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUBGCP2+c.1941C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135098672">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3091,271,0:127	1|1:0,94:94:99:3290,282,0:127	1|1:0,96:96:99:3268,288,0:127
10	135098830	.	T	C	33208.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3008335;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3008335" target="_blank">rs3008335</a>;ExAC.Info.AC=109865;ExAC.Info.AN=124002;ExAC.Info.AF=0.886;ExAC.Info.AC_Het=7618;ExAC.Info.AC_Hom=33984;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1980-113A>G;snpeff.Amino_Acid_length=930;snpeff.Gene_Name=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543663;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368563;SAVANT_GENE=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;SAVANT_INFO=-/29.5kb/18/3.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1896-113A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUBGCP2+c.1896-113A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135098830">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3597,289,0:127	1|1:0,152:152:99:5491,457,0:127	1|1:0,111:111:99:4167,334,0:127
10	135098845	.	C	T	34165.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2995327;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2995327" target="_blank">rs2995327</a>;ExAC.Info.AC=95565;ExAC.Info.AN=123740;ExAC.Info.AF=0.772;ExAC.Info.AC_Het=12524;ExAC.Info.AC_Hom=25809;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1979+115G>A;snpeff.Amino_Acid_length=930;snpeff.Gene_Name=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543663;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368563;SAVANT_GENE=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;SAVANT_INFO=-/29.5kb/18/3.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1895+115G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUBGCP2+c.1895+115G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135098845">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,105:105:99:3864,316,0:127	1|1:0,156:156:99:5555,469,0:127	1|1:0,116:116:99:4209,349,0:127
10	135105983	.	C	T	4420.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=122;MQ=70.73;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2864768;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2864768" target="_blank">rs2864768</a>;ExAC.Info.AC=26580;ExAC.Info.AN=77522;ExAC.Info.AF=0.343;ExAC.Info.AC_Het=6245;ExAC.Info.AC_Hom=8580;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1298+20G>A;snpeff.Amino_Acid_length=930;snpeff.Gene_Name=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543663;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368563;SAVANT_GENE=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;SAVANT_INFO=-/29.5kb/18/3.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1214+20G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUBGCP2+c.1214+20G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135105983">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,17:40:99:572,0,915:127	0/1:29,20:49:99:658,0,1217:127	0/1:18,15:33:99:533,0,747:127
10	135105991	.	G	A	6367.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=143;MQ=70.49;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs72864793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72864793" target="_blank">rs72864793</a>;ExAC.Info.AC=25078;ExAC.Info.AN=105038;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=12575;ExAC.Info.AC_Hom=5213;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1298+12C>T;snpeff.Amino_Acid_length=930;snpeff.Gene_Name=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543663;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368563;SAVANT_GENE=TUBGCP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUBGCP2" target="_blank">TUBGCP2</a>;SAVANT_INFO=-/29.5kb/18/3.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1214+12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUBGCP2+c.1214+12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135105991">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,24:46:99:907,0,808:127	0/1:24,32:56:99:1217,0,883:127	0/1:19,22:41:99:657,0,697:127
10	135160950	.	C	T	16924.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4838721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4838721" target="_blank">rs4838721</a>;ExAC.Info.AC=100117;ExAC.Info.AN=126638;ExAC.Info.AF=0.791;ExAC.Info.AC_Het=18751;ExAC.Info.AC_Hom=39560;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8+21C>T;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=PRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423766;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.141-1649G>A;snpeff.Gene_Name=RP11-122K13.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000452591;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.486-2649C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=ZNF511;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368554;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9C>T;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=PRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423766;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9C>T;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=PRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423766;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433452;SAVANT_GENE=PRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;SAVANT_INFO=+/5.5kb/5/1.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.8+21C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAP1+c.8+21C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135160950">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2485,240,0:127	1|1:0,77:77:99:2474,231,0:127	1|1:0,59:59:99:1843,177,0:127
10	135164844	.	C	T	1598.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs183041551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=183041551" target="_blank">rs183041551</a>;ExAC.Info.AC=269;ExAC.Info.AN=126280;ExAC.Info.AF=2.130e-03;ExAC.Info.AC_Het=233;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.76-41C>T;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=PRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423766;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.553-41C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=ZNF511;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368554;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433452;SAVANT_GENE=PRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;SAVANT_INFO=+/5.5kb/5/1.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.76-41C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAP1+c.76-41C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135164844">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1319:115	0|1:19,29:48:99:818,0,487:115	0|0:39,0:39:99:0,117,1364:115
10	135165790	.	A	G	29067.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4369319;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4369319" target="_blank">rs4369319</a>;ExAC.Info.AC=126162;ExAC.Info.AN=126510;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=334;ExAC.Info.AC_Hom=62215;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His102Arg/c.305A>G;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=PRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423766;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His260Arg/c.779A>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=ZNF511;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368554;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000433452;SAVANT_GENE=PRAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRAP1" target="_blank">PRAP1</a>;SAVANT_INFO=+/5.5kb/5/1.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.302A>G_p.His101Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRAP1+c.302A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135165790">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3693,325,0:127	1|1:0,120:120:99:4208,360,0:127	1|1:0,113:113:99:3950,340,0:127
10	135180430	.	A	G	10026.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=126;MQ=69.86;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2230261;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230261" target="_blank">rs2230261</a>;ExAC.Info.AC=124535;ExAC.Info.AN=126530;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=1660;ExAC.Info.AC_Hom=60742;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582A>G;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=ECHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHS1" target="_blank">ECHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368547;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr194Thr/c.582T>C;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=ECHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHS1" target="_blank">ECHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368547;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368547;SAVANT_GENE=ECHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHS1" target="_blank">ECHS1</a>;SAVANT_INFO=-/11.2kb/8/1.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.582T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHS1+c.582T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135180430">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1429,132,0:119	1|1:0,40:40:99:1300,120,0:119	1|1:0,42:42:99:1446,126,0:119
10	135184126	.	G	A	18829.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=225;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1049951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1049951" target="_blank">rs1049951</a>;ExAC.Info.AC=114707;ExAC.Info.AN=125876;ExAC.Info.AF=0.911;ExAC.Info.AC_Het=8038;ExAC.Info.AC_Hom=51960;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.224G>A;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=ECHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHS1" target="_blank">ECHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368547;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aTc;snpeff.Amino_Acid_Change=p.Thr75Ile/c.224C>T;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=ECHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHS1" target="_blank">ECHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368547;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368547;SAVANT_GENE=ECHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHS1" target="_blank">ECHS1</a>;SAVANT_INFO=-/11.2kb/8/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.224C>T_p.Thr75Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHS1+c.224C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135184126">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:1994,177,0:127	1|1:0,89:89:99:3022,267,0:127	1|1:0,77:77:99:2721,232,0:127
10	135186806	.	A	G	7279.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10466126;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10466126" target="_blank">rs10466126</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=57197;ExAC.Info.AN=84818;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=3073;ExAC.Info.AC_Hom=4902;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.32A>G;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=ECHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHS1" target="_blank">ECHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368547;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTc/gCc;snpeff.Amino_Acid_Change=p.Val11Ala/c.32T>C;snpeff.Amino_Acid_length=290;snpeff.Gene_Name=ECHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHS1" target="_blank">ECHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000368547;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000368547;SAVANT_GENE=ECHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ECHS1" target="_blank">ECHS1</a>;SAVANT_INFO=-/11.2kb/8/1.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.32T>C_p.Val11Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ECHS1+c.32T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135186806">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1055,90,0:80	1|1:0,27:27:81:968,81,0:80	1|1:0,32:32:96:1095,96,0:80
10	135202594	.	T	C	15145.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=195;MQ=69.89;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10776679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10776679" target="_blank">rs10776679</a>;ExAC.Info.AC=117640;ExAC.Info.AN=126700;ExAC.Info.AF=0.928;ExAC.Info.AC_Het=7748;ExAC.Info.AC_Hom=54927;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1234+22T>C;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=PAOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAOX" target="_blank">PAOX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278060;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278060;SAVANT_GENE=PAOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAOX" target="_blank">PAOX</a>;SAVANT_INFO=+/12.5kb/7/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1234+22T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAOX+c.1234+22T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135202594">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:1869,183,0:127	1|1:0,78:78:99:2599,236,0:127	1|1:0,56:56:99:1843,168,0:127
10	135204669	.	G	A	6146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=727;MQ=69.86;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72868316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72868316" target="_blank">rs72868316</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.10+67G>A;snpeff.Amino_Acid_length=339;snpeff.Gene_Name=RP11-108K14.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K148" target="_blank">RP11-108K148</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000468317;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1393-147G>A;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=PAOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K148" target="_blank">RP11-108K148</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278060;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278060;SAVANT_GENE=PAOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAOX" target="_blank">PAOX</a>;SAVANT_INFO=+/12.5kb/7/1.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1393-147G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAOX+c.1393-147G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135204669">View</a>	GT:AD:DP:GQ:PL:TP	0|0:241,0:241:99:0,723,7907:127	0|0:269,0:269:99:0,808,9141:127	0|1:105,112:217:99:3092,0,2888:127
10	135204799	.	C	T	28587.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=430;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6537600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6537600" target="_blank">rs6537600</a>;ExAC.Info.AC=111596;ExAC.Info.AN=126614;ExAC.Info.AF=0.881;ExAC.Info.AC_Het=12655;ExAC.Info.AC_Hom=48733;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11-17C>T;snpeff.Amino_Acid_length=339;snpeff.Gene_Name=RP11-108K14.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K148" target="_blank">RP11-108K148</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000468317;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1393-17C>T;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=PAOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K148" target="_blank">RP11-108K148</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278060;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278060;SAVANT_GENE=PAOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAOX" target="_blank">PAOX</a>;SAVANT_INFO=+/12.5kb/7/1.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1393-17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAOX+c.1393-17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135204799">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4765,412,0:127	1|0:87,64:151:99:1768,0,2632:127	1|1:0,142:142:99:4935,427,0:127
10	135204950	.	C	G	17662.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1046175;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1046175" target="_blank">rs1046175</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=111052;ExAC.Info.AN=126102;ExAC.Info.AF=0.881;ExAC.Info.AC_Het=12312;ExAC.Info.AC_Hom=47777;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.127+18C>G;snpeff.Amino_Acid_length=339;snpeff.Gene_Name=RP11-108K14.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K148" target="_blank">RP11-108K148</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000468317;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[short_sequence_motif:Microbody_targeting_signal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1527C>G;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=PAOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K148" target="_blank">RP11-108K148</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278060;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro509Pro/c.1527C>G;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=PAOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K148" target="_blank">RP11-108K148</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278060;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278060;SAVANT_GENE=PAOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAOX" target="_blank">PAOX</a>;SAVANT_INFO=+/12.5kb/7/1.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1527C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAOX+c.1527C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135204950">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2938,235,0:127	1|0:48,42:90:99:1285,0,1565:127	1|1:0,83:83:99:3021,250,0:127
10	135205009	.	C	G	16195.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1046178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1046178" target="_blank">rs1046178</a>;ExAC.Info.AC=108948;ExAC.Info.AN=124426;ExAC.Info.AF=0.876;ExAC.Info.AC_Het=11074;ExAC.Info.AC_Hom=42435;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.127+77C>G;snpeff.Amino_Acid_length=339;snpeff.Gene_Name=RP11-108K14.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K148" target="_blank">RP11-108K148</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000468317;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=50;snpeff.Amino_Acid_Change=c.*50C>G;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=PAOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K148" target="_blank">RP11-108K148</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278060;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278060;SAVANT_GENE=PAOX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAOX" target="_blank">PAOX</a>;SAVANT_INFO=+/12.5kb/7/1.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*50C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAOX+c.*50C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135205009">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2014,171,0:127	1|0:31,43:74:99:1293,0,981:127	1|1:0,92:92:99:3226,277,0:127
10	135207936	.	T	C	4702.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=44;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10160083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10160083" target="_blank">rs10160083</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.112+100T>C;snpeff.Amino_Acid_length=334;snpeff.Gene_Name=MTG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTG1" target="_blank">MTG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317502;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.128-1281T>C;snpeff.Amino_Acid_length=339;snpeff.Gene_Name=RP11-108K14.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTG1" target="_blank">MTG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000468317;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317502;SAVANT_GENE=MTG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTG1" target="_blank">MTG1</a>;SAVANT_INFO=+/26.5kb/11/1.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.112+100T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTG1+c.112+100T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135207936">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,9:9:27:325,27,0:38	1|1:0,13:13:39:493,39,0:38	1|1:0,22:22:66:809,66,0:38
10	135233541	.	A	G	24298.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2255246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2255246" target="_blank">rs2255246</a>;ExAC.Info.AC=126576;ExAC.Info.AN=126676;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=97;ExAC.Info.AC_Hom=62773;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile293Val/c.877A>G;snpeff.Amino_Acid_length=334;snpeff.Gene_Name=MTG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTG1" target="_blank">MTG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317502;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile298Val/c.892A>G;snpeff.Amino_Acid_length=339;snpeff.Gene_Name=RP11-108K14.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTG1" target="_blank">MTG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000468317;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317502;SAVANT_GENE=MTG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTG1" target="_blank">MTG1</a>;SAVANT_INFO=+/26.5kb/11/1.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.877A>G_p.Ile293Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTG1+c.877A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135233541">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3344,286,0:127	1|1:0,116:116:99:4135,349,0:127	1|1:0,81:81:99:2746,243,0:127
10	135237003	.	G	A	907.66	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=28;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4077586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4077586" target="_blank">rs4077586</a>;ExAC.Info.AC=252;ExAC.Info.AN=2754;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.183G>A;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly61Gly/c.183C>T;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506;SAVANT_GENE=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;SAVANT_INFO=-/148.7kb/2/3.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.183C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN+c.183C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135237003">View</a>	GT:AD:DP:GQ:PL:TP	0|0:5,0:5:15:0,15,169:15	0|0:15,0:15:45:0,45,575:15	0|1:3,5:8:97:171,0,97:15
10	135237060	.	A	G	6923.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2480253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2480253" target="_blank">rs2480253</a>;ExAC.Info.AC=24873;ExAC.Info.AN=25276;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=1159;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.126A>G;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly42Gly/c.126T>C;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506;SAVANT_GENE=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;SAVANT_INFO=-/148.7kb/2/3.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.126T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN+c.126T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135237060">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:681,57,0:65	1|1:0,29:29:87:1020,87,0:65	1|1:0,22:22:66:822,66,0:65
10	135237166	.	G	A	13444.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2492666;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2492666" target="_blank">rs2492666</a>;cosmic68.Histology_subtype=chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma;ExAC.Info.AC=69599;ExAC.Info.AN=115860;ExAC.Info.AF=0.601;ExAC.Info.AC_Het=22308;ExAC.Info.AC_Hom=19343;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.20G>A;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.20G>A;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr7Met/c.20C>T;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506;SAVANT_GENE=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;SAVANT_INFO=-/148.7kb/2/3.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.20C>T_p.Thr7Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN+c.20C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135237166">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,42:74:99:1138,0,796:127	1|1:0,106:106:99:3613,319,0:127	0|1:41,36:77:99:909,0,1141:127
10	135237196	.	C	T	12417.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=260;MQ=69.80;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs4838682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4838682" target="_blank">rs4838682</a>;ExAC.Info.AC=68428;ExAC.Info.AN=115586;ExAC.Info.AF=0.592;ExAC.Info.AC_Het=20076;ExAC.Info.AC_Hom=16967;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=11;snpeff.Amino_Acid_Change=c.-11G>A;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414069;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506;SAVANT_GENE=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;SAVANT_INFO=-/148.7kb/2/3.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-11G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN+c.-11G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135237196">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,41:71:99:1177,0,769:127	1|1:0,111:111:99:3456,332,0:127	0|1:45,33:78:99:776,0,1374:127
10	135269788	.	G	A	9144.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs68174897;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=68174897" target="_blank">rs68174897</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=1626;ExAC.Info.AN=24706;ExAC.Info.AF=0.066;ExAC.Info.AC_Het=1246;ExAC.Info.AC_Hom=83;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.185G>A;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:Ex2;SAVANT_HGVS=c.-32603C>T:c.115G>A_p.Gly39Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-32603C>T:c.115G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135269788">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,49:112:99:1307,0,1770:127	0|0:138,0:138:99:0,415,4573:127	1|0:121,62:183:99:1549,0,3463:127
10	135269955	.	C	T	890.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11101759;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11101759" target="_blank">rs11101759</a>;ExAC.Info.AC=2228;ExAC.Info.AN=25440;ExAC.Info.AF=0.088;ExAC.Info.AC_Het=1472;ExAC.Info.AC_Hom=116;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.352C>T;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:Ex2;SAVANT_HGVS=c.-32770G>A:c.282C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-32770G>A:c.282C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135269955">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1414:119	0|0:53,0:53:99:0,159,1910:119	0|1:53,17:70:99:464,0,1621:119
10	135270837	.	TC	T	1038.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=45;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs144029024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144029024" target="_blank">rs144029024</a>;ExAC.Info.AC=2365;ExAC.Info.AN=17984;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=1803;ExAC.Info.AC_Hom=228;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.511delC;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:Ex3;SAVANT_HGVS=c.-33653delG:c.444delC;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=5PU:FC;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-33653delG:c.444delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135270837">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,7:12:99:205,0,132:60	0|0:20,0:20:60:0,60,636:60	1|0:9,4:13:99:99,0,264:60
10	135271789	.	C	T	19911.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2480245;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2480245" target="_blank">rs2480245</a>;ExAC.Info.AC=17384;ExAC.Info.AN=19706;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=1351;ExAC.Info.AC_Hom=6376;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1462C>T;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:In3/4;SAVANT_HGVS=c.-34604G>A:c.683-75C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-34604G>A:c.683-75C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135271789">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2842,249,0:127	1|1:0,75:75:99:2621,225,0:127	1|0:35,75:110:99:2165,0,802:127
10	135272596	.	C	T	1146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61744149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61744149" target="_blank">rs61744149</a>;ExAC.Info.AC=50;ExAC.Info.AN=24266;ExAC.Info.AF=2.060e-03;ExAC.Info.AC_Het=45;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2269C>T;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:Ex5;SAVANT_HGVS=c.-35411G>A:c.1051C>T_p.Pro351Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-35411G>A:c.1051C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135272596">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1586:127	0|0:76,0:76:99:0,228,2679:127	0|1:52,25:77:99:592,0,1664:127
10	135273309	.	G	C	5408.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs731946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=731946" target="_blank">rs731946</a>;ExAC.Info.AC=436;ExAC.Info.AN=19222;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=174;ExAC.Info.AC_Hom=7;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2821+1G>C;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.2822G>C;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:Ex6;SAVANT_HGVS=c.-36124C>G:c.1604G>C_p.Gly535Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-36124C>G:c.1604G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135273309">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,33:75:99:967,0,1214:127	0|0:87,0:87:99:0,261,3134:127	1|0:60,35:95:99:1020,0,1862:127
10	135273463	.	C	G	9246.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs731947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=731947" target="_blank">rs731947</a>;ExAC.Info.AC=65380;ExAC.Info.AN=82098;ExAC.Info.AF=0.796;ExAC.Info.AC_Het=1352;ExAC.Info.AC_Hom=3819;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2903C>G;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:Ex6;SAVANT_HGVS=c.-36278G>C:c.1758C>G_p.Asp586Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-36278G>C:c.1758C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135273463">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:1001,84,0:83	1|1:0,42:42:99:1633,126,0:83	1|0:16,31:47:99:990,0,473:83
10	135278193	.	A	G	11667.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=129;MQ=70.25;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2492654;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2492654" target="_blank">rs2492654</a>;ExAC.Info.AC=16190;ExAC.Info.AN=19094;ExAC.Info.AF=0.848;ExAC.Info.AC_Het=1326;ExAC.Info.AC_Hom=5199;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3198A>G;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:Ex7;SAVANT_HGVS=c.-41008T>C:c.2053A>G_p.Met685Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-41008T>C:c.2053A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135278193">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1085,93,0:90	1|1:0,30:30:90:1105,90,0:90	1|1:0,68:68:99:2301,204,0:90
10	135278244	.	CTGGGGTG	C	3932.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=107;MQ=70.27;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs111769579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111769579" target="_blank">rs111769579</a>;ExAC.Info.AC=2403;ExAC.Info.AN=18678;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=1785;ExAC.Info.AC_Hom=224;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3250_3256delTGGGGTG;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:Ex7;SAVANT_HGVS=c.-41066_-41060del7:c.2117_2123del7;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=5PU:FC;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-41066_-41060del7:c.2117_2123del7+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135278244">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,19:30:99:677,0,385:81	0|0:27,0:27:81:0,81,1173:81	1|0:33,17:50:99:578,0,1321:81
10	135279283	.	T	C	13925.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2243812;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243812" target="_blank">rs2243812</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3998+214T>C;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:In9/10;SAVANT_HGVS=c.-42098A>G:c.2659+214T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-42098A>G:c.2659+214T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135279283">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:2085,177,0:127	1|1:0,66:66:99:2326,198,0:127	1|0:31,43:74:99:1219,0,890:127
10	135279810	.	T	G	12602.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2243909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243909" target="_blank">rs2243909</a>;ExAC.Info.AC=15390;ExAC.Info.AN=20852;ExAC.Info.AF=0.738;ExAC.Info.AC_Het=2404;ExAC.Info.AC_Hom=5166;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4070T>G;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:Ex10;SAVANT_HGVS=c.-42625A>C:c.2731T>G_p.Ser911Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-42625A>C:c.2731T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135279810">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,25:56:99:665,0,918:127	1|1:0,92:92:99:3406,277,0:127	0|1:38,45:83:99:1332,0,1033:127
10	135280765	.	C	T	14032.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2246634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2246634" target="_blank">rs2246634</a>;ExAC.Info.AC=18030;ExAC.Info.AN=21834;ExAC.Info.AF=0.826;ExAC.Info.AC_Het=1405;ExAC.Info.AC_Hom=5543;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4209C>T;snpeff.Gene_Name=RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Transcript_BioType=retained_intron;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000482993;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-108K144" target="_blank">RP11-108K144</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000333815;SAVANT_GENE=SPRN:RP11-108K14.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:RP11-108K144" target="_blank">SPRN:RP11-108K144</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/15.2kb/12/4.4kb;SAVANT_LOC=5UTR:Ex11;SAVANT_HGVS=c.-43580G>A:c.2870C>T_p.Pro957Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:RP11-108K144+c.-43580G>A:c.2870C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135280765">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1832,168,0:127	1|1:0,66:66:99:2307,198,0:127	1|0:36,47:83:99:1413,0,959:127
10	135340567	.	A	T	13644.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2070673;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070673" target="_blank">rs2070673</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-40+190A>T;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:5UTR;SAVANT_HGVS=c.-103382T>A:c.-333A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-103382T>A:c.-333A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135340567">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,49:95:99:1288,0,1137:127	1|1:0,118:118:99:3808,354,0:127	0|1:114,46:160:99:934,0,3112:127
10	135340866	.	T	TC	37740.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11445593;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11445593" target="_blank">rs11445593</a>;ExAC.Info.AC=125323;ExAC.Info.AN=126390;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=949;ExAC.Info.AC_Hom=59660;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=33;snpeff.Amino_Acid_Change=c.-33_-34insC;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:5UTR;SAVANT_HGVS=c.-103682dupG:c.-33dupC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:5PU;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-103682dupG:c.-33dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135340866">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3954,324,0:127	1|1:0,140:140:99:5237,424,0:127	1|1:0,173:173:99:6440,524,0:127
10	135342260	.	C	T	12999.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=383;MQ=69.99;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs943975;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=943975" target="_blank">rs943975</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.337+116C>T;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.19+383G>A;snpeff.Amino_Acid_length=19;snpeff.Gene_Name=AL161645.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000599428;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:In4/5;SAVANT_HGVS=c.-105075G>A:c.337+116C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-105075G>A:c.337+116C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135342260">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,35:91:99:900,0,1858:127	1|1:1,120:121:99:3999,359,0:127	0|1:132,39:171:99:733,0,4053:127
10	135347397	.	T	C	58839.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=786;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs915909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=915909" target="_blank">rs915909</a>;ExAC.Info.AC=125597;ExAC.Info.AN=126700;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=1006;ExAC.Info.AC_Hom=62195;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile321Ile/c.963T>C;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:Ex8;SAVANT_HGVS=c.-110212A>G:c.963T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-110212A>G:c.963T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135347397">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,212:212:99:7110,637,0:127	1|1:0,245:245:99:8346,735,0:127	1|1:0,329:329:99:11165,988,0:127
10	135348544	.	T	A	329.37	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=30;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6413432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6413432" target="_blank">rs6413432</a>;Clinvar.ClinicalSignificance=Pathogenic;Clinvar.RCVaccession=RCV000018384;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.967+1143T>A;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:In8/9;SAVANT_HGVS=c.-111359A>T:c.967+1143T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-111359A>T:c.967+1143T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135348544">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018384" target="_blank">Pathogenic</a> 	GT:AD:DP:GQ:PL:TP	1|0:5,2:7:69:69,0,140:15	0|0:5,0:5:15:0,15,163:15	1|0:13,5:18:99:131,0,391:15
10	135348579	.	A	G	274.37	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=27;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2864987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2864987" target="_blank">rs2864987</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.967+1178A>G;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:In8/9;SAVANT_HGVS=c.-111394T>C:c.967+1178A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-111394T>C:c.967+1178A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135348579">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,2:7:28:28,0,132:14	0|0:5,0:5:15:0,15,162:14	1|0:10,5:15:99:106,0,280:14
10	135351137	.	G	C	51694.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=839;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2070676;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070676" target="_blank">rs2070676</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1156-118G>C;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:In9/10;SAVANT_HGVS=c.-113952C>G:c.1156-118G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-113952C>G:c.1156-118G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135351137">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,248:248:99:8345,745,0:127	1|1:0,280:280:99:9461,841,0:127	1|0:111,200:311:99:5826,0,2837:127
10	135351174	.	T	A	49265.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=782;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2070677;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070677" target="_blank">rs2070677</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1156-81T>A;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:In9/10;SAVANT_HGVS=c.-113989A>T:c.1156-81T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-113989A>T:c.1156-81T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135351174">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,232:232:99:7929,697,0:127	1|1:0,244:244:99:8655,733,0:127	1|0:114,192:306:99:5975,0,3180:127
10	135351362	.	T	C	34626.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=488;MQ=69.97;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2515641;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2515641" target="_blank">rs2515641</a>;ExAC.Info.AC=105293;ExAC.Info.AN=126700;ExAC.Info.AF=0.831;ExAC.Info.AC_Het=15849;ExAC.Info.AC_Hom=44668;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe421Phe/c.1263T>C;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:Ex10;SAVANT_HGVS=c.-114177A>G:c.1263T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-114177A>G:c.1263T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135351362">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,134:134:99:4977,402,0:127	1|1:1,139:140:99:5045,417,0:127	1|0:70,144:214:99:4740,0,1727:127
10	135352490	.	C	T	5575.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=944;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7081484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7081484" target="_blank">rs7081484</a>;ExAC.Info.AC=4306;ExAC.Info.AN=126662;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=3903;ExAC.Info.AC_Hom=195;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=22;snpeff.Amino_Acid_Change=c.*22C>T;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:3UTR;SAVANT_HGVS=c.-115305G>A:c.*22C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-115305G>A:c.*22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135352490">View</a>	GT:AD:DP:GQ:PL:TP	0|0:250,0:250:99:0,751,8716:127	0|0:331,0:331:99:0,993,11464:127	0|1:246,117:363:99:2806,0,7339:127
10	135352509	.	T	A	42460.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=847;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2480257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2480257" target="_blank">rs2480257</a>;ExAC.Info.AC=87730;ExAC.Info.AN=126578;ExAC.Info.AF=0.693;ExAC.Info.AC_Het=22717;ExAC.Info.AC_Hom=30568;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=41;snpeff.Amino_Acid_Change=c.*41T>A;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:3UTR;SAVANT_HGVS=c.-115324A>T:c.*41T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-115324A>T:c.*41T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135352509">View</a>	GT:AD:DP:GQ:PL:TP	0|1:110,118:228:99:4575,0,4938:127	1|1:0,300:300:99:13195,906,0:127	0|1:229,90:319:99:3094,0,10080:127
10	135352514	.	A	G	40725.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=798;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2480256;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2480256" target="_blank">rs2480256</a>;ExAC.Info.AC=89024;ExAC.Info.AN=126554;ExAC.Info.AF=0.703;ExAC.Info.AC_Het=23047;ExAC.Info.AC_Hom=30389;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=46;snpeff.Amino_Acid_Change=c.*46A>G;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000463117;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000463117;SAVANT_GENE=SPRN:CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:CYP2E1" target="_blank">SPRN:CYP2E1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:+/18.7kb/11/1.9kb;SAVANT_LOC=5UTR:3UTR;SAVANT_HGVS=c.-115329T>C:c.*46A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:CYP2E1+c.-115329T>C:c.*46A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135352514">View</a>	GT:AD:DP:GQ:PL:TP	0|1:103,115:218:99:4558,0,4771:127	1|1:0,276:276:99:12503,843,0:127	0|1:218,86:304:99:2977,0,9891:127
10	135368163	.	A	G	4082.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2149616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2149616" target="_blank">rs2149616</a>;ExAC.Info.AC=15719;ExAC.Info.AN=120034;ExAC.Info.AF=0.131;ExAC.Info.AC_Het=12963;ExAC.Info.AC_Hom=1099;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506;SAVANT_GENE=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN" target="_blank">SPRN</a>;SAVANT_INFO=-/148.7kb/2/3.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-130978T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN+c.-130978T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135368163">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,39:72:99:1046,0,1022:127	0|0:89,1:90:99:0,232,3070:127	1|0:72,27:99:99:629,0,2028:127
10	135368452	.	A	G	2854.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3737029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737029" target="_blank">rs3737029</a>;ExAC.Info.AC=2607;ExAC.Info.AN=37144;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=1319;ExAC.Info.AC_Hom=94;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=44;snpeff.Amino_Acid_Change=c.*44T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:3UTR;SAVANT_HGVS=c.-131267T>C:c.*44T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-131267T>C:c.*44T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135368452">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,18:36:99:667,0,681:87	0|0:28,0:28:87:0,87,1264:87	1|0:21,13:34:99:463,0,799:87
10	135368462	.	T	C	2650.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2183163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2183163" target="_blank">rs2183163</a>;ExAC.Info.AC=2910;ExAC.Info.AN=35568;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=1667;ExAC.Info.AC_Hom=122;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=34;snpeff.Amino_Acid_Change=c.*34A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:3UTR;SAVANT_HGVS=c.-131277A>G:c.*34A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-131277A>G:c.*34A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135368462">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,15:32:99:595,0,666:96	0|0:31,0:31:96:0,96,1388:96	1|0:18,10:28:99:363,0,740:96
10	135368489	.	A	AGCTGAGACGG	2675.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs71228758;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71228758" target="_blank">rs71228758</a>;ExAC.Info.AC=2997;ExAC.Info.AN=33198;ExAC.Info.AF=0.090;ExAC.Info.AC_Het=2047;ExAC.Info.AC_Hom=171;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=6;snpeff.Amino_Acid_Change=c.*6_*7insCCGTCTCAGC;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:3UTR;SAVANT_HGVS=c.-131305_-131304insCCGTCTCAGC:c.*6_*7insCCGTCTCAGC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:3PU;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-131305_-131304insCCGTCTCAGC:c.*6_*7insCCGTCTCAGC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135368489">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,17:33:99:725,0,615:79	0|0:26,0:26:79:0,79,1172:79	1|0:22,9:31:99:312,0,857:79
10	135368590	.	T	C	1010.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3737031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3737031" target="_blank">rs3737031</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=3595;ExAC.Info.AN=41594;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=2639;ExAC.Info.AC_Hom=253;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His321Arg/c.962A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:Ex13;SAVANT_HGVS=c.-131405A>G:c.962A>G_p.His321Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-131405A>G:c.962A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135368590">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,7:18:99:157,0,328:104	0|0:35,0:35:99:0,105,1152:104	1|0:17,5:22:94:94,0,513:104
10	135368967	.	G	A	3498.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11592461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11592461" target="_blank">rs11592461</a>;ExAC.Info.AC=15609;ExAC.Info.AN=126696;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=13233;ExAC.Info.AC_Hom=1184;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.831-25C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In11/12;SAVANT_HGVS=c.-131782C>T:c.831-25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-131782C>T:c.831-25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135368967">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,20:41:99:575,0,656:127	0|0:61,0:61:99:0,183,2157:127	1|0:35,28:63:99:779,0,1063:127
10	135369054	.	A	G	11133.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3020514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3020514" target="_blank">rs3020514</a>;ExAC.Info.AC=121803;ExAC.Info.AN=126018;ExAC.Info.AF=0.967;ExAC.Info.AC_Het=3391;ExAC.Info.AC_Hom=53373;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.830+47T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.831A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In11/12;SAVANT_HGVS=c.-131869T>C:c.830+47T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-131869T>C:c.830+47T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135369054">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1032,87,0:127	1|1:0,52:52:99:1888,156,0:127	1|1:0,46:46:99:1614,138,0:127
10	135369258	.	C	T	2609.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3827688;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3827688" target="_blank">rs3827688</a>;ExAC.Info.AC=15583;ExAC.Info.AN=126692;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=13137;ExAC.Info.AC_Hom=1181;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.719+26G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.720C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.720C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.720C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.720C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.720C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.720C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.720C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.720C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.720C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.720C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In10/11;SAVANT_HGVS=c.-132073G>A:c.719+26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-132073G>A:c.719+26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135369258">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,12:29:99:340,0,528:127	0|0:57,0:57:99:0,171,2096:127	1|0:52,15:67:99:356,0,1576:127
10	135369532	.	T	C	3486.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3747881;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3747881" target="_blank">rs3747881</a>;ExAC.Info.AC=17039;ExAC.Info.AN=126702;ExAC.Info.AF=0.134;ExAC.Info.AC_Het=14454;ExAC.Info.AC_Hom=1280;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys183Arg/c.548A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:Ex9;SAVANT_HGVS=c.-132347A>G:c.548A>G_p.Lys183Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-132347A>G:c.548A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135369532">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,19:39:99:623,0,599:127	0|0:46,0:46:99:0,138,1607:127	1|0:42,27:69:99:756,0,1228:127
10	135370343	.	G	A	5071.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs8181464;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8181464" target="_blank">rs8181464</a>;ExAC.Info.AC=14118;ExAC.Info.AN=126278;ExAC.Info.AF=0.112;ExAC.Info.AC_Het=9711;ExAC.Info.AC_Hom=791;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.465-17C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In7/8;SAVANT_HGVS=c.-133158C>T:c.465-17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-133158C>T:c.465-17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135370343">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,19:59:99:483,0,1204:127	0|0:99,0:99:99:0,297,3315:127	1|0:69,39:108:99:1088,0,2034:127
10	135370370	.	C	T	4104.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs8181332;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8181332" target="_blank">rs8181332</a>;ExAC.Info.AC=16015;ExAC.Info.AN=126456;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=12684;ExAC.Info.AC_Hom=1064;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.465-44G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In7/8;SAVANT_HGVS=c.-133185G>A:c.465-44G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-133185G>A:c.465-44G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135370370">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,14:45:99:352,0,951:127	0|0:73,0:73:99:0,219,2667:127	1|0:56,32:88:99:883,0,1826:127
10	135370633	.	C	T	6395.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs8181356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8181356" target="_blank">rs8181356</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15600;ExAC.Info.AN=126702;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=13242;ExAC.Info.AC_Hom=1176;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.402C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.402C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.402C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.402C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.402C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.402C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.402C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.402C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.402C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.402C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys134Lys/c.402G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:Ex7;SAVANT_HGVS=c.-133448G>A:c.402G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-133448G>A:c.402G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135370633">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,41:84:99:1571,0,2372:127	0|0:75,0:75:99:0,226,4786:127	1|0:63,26:89:99:870,0,3821:127
10	135370639	.	C	A	6051.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs8181357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8181357" target="_blank">rs8181357</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15601;ExAC.Info.AN=126702;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=13243;ExAC.Info.AC_Hom=1178;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaT;snpeff.Amino_Acid_Change=p.Glu132Asp/c.396G>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:Ex7;SAVANT_HGVS=c.-133454G>T:c.396G>T_p.Glu132Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-133454G>T:c.396G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135370639">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,40:81:99:1533,0,2351:127	0|0:69,0:69:99:0,217,4678:127	1|0:60,24:84:99:821,0,3702:127
10	135371262	.	G	C	1410.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs8181294;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8181294" target="_blank">rs8181294</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.374+106C>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In6/7;SAVANT_HGVS=c.-134077C>G:c.374+106C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-134077C>G:c.374+106C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135371262">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,10:20:99:316,0,290:109	0|0:37,0:37:99:0,110,1326:109	1|0:24,11:35:99:262,0,763:109
10	135371606	.	T	C	2206.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs8181458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8181458" target="_blank">rs8181458</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.319+65A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In5/6;SAVANT_HGVS=c.-134421A>G:c.319+65A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-134421A>G:c.319+65A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135371606">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,13:35:99:433,0,616:96	0|0:32,0:32:96:0,96,1198:96	1|0:39,9:48:99:222,0,1342:96
10	135371625	.	T	C	1550.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs755100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=755100" target="_blank">rs755100</a>;ExAC.Info.AC=4947;ExAC.Info.AN=126702;ExAC.Info.AF=0.039;ExAC.Info.AC_Het=4451;ExAC.Info.AC_Hom=227;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.319+46A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320T>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In5/6;SAVANT_HGVS=c.-134440A>G:c.319+46A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-134440A>G:c.319+46A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135371625">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1771:127	0|0:46,0:46:99:0,138,1562:127	0|1:36,27:63:99:794,0,1088:127
10	135372870	.	C	G	4555.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11101825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11101825" target="_blank">rs11101825</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15608;ExAC.Info.AN=126702;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=13243;ExAC.Info.AC_Hom=1183;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.137-6G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.137G>C;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In2/3;SAVANT_HGVS=c.-135685G>C:c.137-6G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SS;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-135685G>C:c.137-6G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135372870">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,34:66:99:918,0,869:127	0|0:85,0:85:99:0,255,2841:127	1|0:75,31:106:99:712,0,2181:127
10	135373591	.	C	T	4615.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3813873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3813873" target="_blank">rs3813873</a>;ExAC.Info.AC=16066;ExAC.Info.AN=126702;ExAC.Info.AF=0.127;ExAC.Info.AC_Het=13687;ExAC.Info.AC_Hom=1168;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.136+4G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.137G>A;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In2/3;SAVANT_HGVS=c.-136406G>A:c.136+4G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SS;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-136406G>A:c.136+4G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135373591">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,37:70:99:1087,0,917:127	0|0:73,0:73:99:0,219,2508:127	1|0:70,23:93:99:591,0,2164:127
10	135373679	.	T	C	1092.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72869403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72869403" target="_blank">rs72869403</a>;ExAC.Info.AC=5402;ExAC.Info.AN=126700;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=4851;ExAC.Info.AC_Hom=274;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.74-22A>G;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In1/2;SAVANT_HGVS=c.-136494A>G:c.74-22A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-136494A>G:c.74-22A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135373679">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1384:113	0|0:45,0:45:99:0,135,1556:113	0|1:34,21:55:99:565,0,1054:113
10	135373694	.	G	A	1415.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10857752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10857752" target="_blank">rs10857752</a>;ExAC.Info.AC=15630;ExAC.Info.AN=126692;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=13240;ExAC.Info.AC_Hom=1164;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CYP2E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.74-37C>T;snpeff.Amino_Acid_length=351;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2E1" target="_blank">CYP2E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000343131;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000343131;SAVANT_GENE=SPRN:SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SYCE1" target="_blank">SPRN:SYCE1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/10.8kb/13/1.3kb;SAVANT_LOC=5UTR:In1/2;SAVANT_HGVS=c.-136509C>T:c.74-37C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SYCE1+c.-136509C>T:c.74-37C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135373694">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,11:27:99:290,0,503:127	0|0:43,0:43:99:0,129,1434:127	1|0:44,9:53:99:138,0,1406:127
10	135381254	.	C	T	98.84	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=29;MQ=69.58;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs111317133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111317133" target="_blank">rs111317133</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000450958;SAVANT_GENE=SPRN:SPRNP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SPRNP1" target="_blank">SPRN:SPRNP1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/3.3kb/3/2.4kb;SAVANT_LOC=5UTR:3UTR;SAVANT_HGVS=c.-144069G>A:c.*80G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SPRNP1+c.-144069G>A:c.*80G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135381254">View</a>	GT:AD:DP:GQ:PL:TP	0|0:5,0:5:15:0,15,198:15	0|0:17,0:17:57:0,57,810:15	0|1:4,3:7:68:68,0,148:15
10	135381276	.	T	C	2593.8	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=39;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3020500;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3020500" target="_blank">rs3020500</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000450958;SAVANT_GENE=SPRN:SPRNP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SPRNP1" target="_blank">SPRN:SPRNP1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/3.3kb/3/2.4kb;SAVANT_LOC=5UTR:3UTR;SAVANT_HGVS=c.-144091A>G:c.*58A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:3PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SPRNP1+c.-144091A>G:c.*58A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135381276">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,6:6:18:229,18,0:18	1|1:0,21:21:63:700,63,0:18	1|0:5,7:12:99:197,0,165:18
10	135381390	.	G	A	654.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=38;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11101844;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11101844" target="_blank">rs11101844</a>;ExAC.Info.AC=2885;ExAC.Info.AN=43916;ExAC.Info.AF=0.066;ExAC.Info.AC_Het=930;ExAC.Info.AC_Hom=64;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000450958;SAVANT_GENE=SPRN:SPRNP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SPRNP1" target="_blank">SPRN:SPRNP1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/3.3kb/3/2.4kb;SAVANT_LOC=5UTR:Ex2;SAVANT_HGVS=c.-144205C>T:c.454C>T_p.Pro152Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SPRNP1+c.-144205C>T:c.454C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135381390">View</a>	GT:AD:DP:GQ:PL:TP	1|0:3,3:6:91:91,0,98:36	0|0:12,0:12:36:0,36,459:36	1|0:15,5:20:99:129,0,467:36
10	135381425	.	G	A	1059.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=39;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11101845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11101845" target="_blank">rs11101845</a>;ExAC.Info.AC=3667;ExAC.Info.AN=41230;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=1314;ExAC.Info.AC_Hom=122;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000450958;SAVANT_GENE=SPRN:SPRNP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SPRNP1" target="_blank">SPRN:SPRNP1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/3.3kb/3/2.4kb;SAVANT_LOC=5UTR:Ex2;SAVANT_HGVS=c.-144240C>T:c.419C>T_p.Ser140Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SPRNP1+c.-144240C>T:c.419C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135381425">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,4:9:99:130,0,267:36	0|0:11,0:11:36:0,36,632:36	1|0:14,5:19:99:154,0,768:36
10	135381443	.	C	T	1019.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=43;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11101846;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11101846" target="_blank">rs11101846</a>;ExAC.Info.AC=3713;ExAC.Info.AN=36526;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=1350;ExAC.Info.AC_Hom=125;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000450958;SAVANT_GENE=SPRN:SPRNP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SPRNP1" target="_blank">SPRN:SPRNP1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/3.3kb/3/2.4kb;SAVANT_LOC=5UTR:Ex2;SAVANT_HGVS=c.-144258G>A:c.401G>A_p.Arg134His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SPRNP1+c.-144258G>A:c.401G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135381443">View</a>	GT:AD:DP:GQ:PL:TP	1|0:6,4:10:99:140,0,267:36	0|0:12,0:12:36:0,36,633:36	1|0:15,6:21:99:177,0,803:36
10	135381592	.	C	G	6892.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3020501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3020501" target="_blank">rs3020501</a>;ExAC.Info.AC=12102;ExAC.Info.AN=25610;ExAC.Info.AF=0.473;ExAC.Info.AC_Het=1814;ExAC.Info.AC_Hom=2160;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000450958;SAVANT_GENE=SPRN:SPRNP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SPRNP1" target="_blank">SPRN:SPRNP1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/3.3kb/3/2.4kb;SAVANT_LOC=5UTR:Ex2;SAVANT_HGVS=c.-144407G>C:c.252G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SPRNP1+c.-144407G>C:c.252G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135381592">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,20:42:99:559,0,705:127	1|1:0,53:53:99:1814,158,0:127	0|1:26,26:52:99:693,0,864:127
10	135381623	.	T	C	16372.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3020502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3020502" target="_blank">rs3020502</a>;ExAC.Info.AC=17196;ExAC.Info.AN=24656;ExAC.Info.AF=0.697;ExAC.Info.AC_Het=1466;ExAC.Info.AC_Hom=3944;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000450958;SAVANT_GENE=SPRN:SPRNP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SPRNP1" target="_blank">SPRN:SPRNP1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/3.3kb/3/2.4kb;SAVANT_LOC=5UTR:Ex2;SAVANT_HGVS=c.-144438A>G:c.221A>G_p.Gln74Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SPRNP1+c.-144438A>G:c.221A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135381623">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2048,189,0:127	1|1:0,81:81:99:2815,243,0:127	1|0:26,49:75:99:1467,0,608:127
10	135381766	.	C	T	14666.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3020503;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3020503" target="_blank">rs3020503</a>;ExAC.Info.AC=13693;ExAC.Info.AN=17516;ExAC.Info.AF=0.782;ExAC.Info.AC_Het=1556;ExAC.Info.AC_Hom=4259;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SYCE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SPRN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYCE1" target="_blank">SYCE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541506:ENST00000450958;SAVANT_GENE=SPRN:SPRNP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPRN:SPRNP1" target="_blank">SPRN:SPRNP1</a>;SAVANT_INFO=-/148.7kb/2/3.2kb:-/3.3kb/3/2.4kb;SAVANT_LOC=5UTR:Ex2;SAVANT_HGVS=c.-144581G>A:c.78G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPRN:SPRNP1+c.-144581G>A:c.78G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135381766">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1709,156,0:127	1|1:0,65:65:99:2448,196,0:127	1|0:28,58:86:99:1764,0,641:127
10	135490970	.	T	A	414.35	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=45;MQ=41.55;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=1676;ExAC.Info.AN=110728;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=618;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.699T>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135490970">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,2:15:22:22,0,516:22	0/1:16,4:20:72:72,0,567:22	0/1:6,4:10:99:105,0,205:22
10	135490992	.	C	G	4176.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=148;MQ=39.92;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=8413;ExAC.Info.AN=113896;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=6474;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.721C>G;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135490992">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,12:46:99:377,0,1580:127	0/1:39,27:66:99:973,0,1763:127	0/1:25,11:36:99:381,0,1074:127
10	135490994	.	G	T	4198.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=154;MQ=40.03;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=8257;ExAC.Info.AN=113998;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=6937;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.723G>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135490994">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,13:49:99:420,0,1654:127	0/1:40,27:67:99:973,0,1763:127	0/1:27,11:38:99:378,0,1116:127
10	135490996	.	T	A	613.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=160;MQ=39.93;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=1;ExAC.Info.AN=114074;ExAC.Info.AF=8.766e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.725T>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135490996">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,9:53:99:165,0,2114:40	0/1:59,9:68:99:127,0,2793:40	0/1:35,4:39:40:40,0,1446:40
10	135491012	.	C	T	9477.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=223;MQ=39.71;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=3714;ExAC.Info.AN=113928;ExAC.Info.AF=0.033;ExAC.Info.AC_Het=2985;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.741C>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491012">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,32:70:99:1274,0,1743:127	0/1:62,34:96:99:1241,0,2749:127	0/1:26,31:57:99:1273,0,1034:127
10	135491022	.	G	A	1477.71	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=270;MQ=38.94;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=42;ExAC.Info.AN=114366;ExAC.Info.AF=3.672e-04;ExAC.Info.AC_Het=352;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.751G>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491022">View</a>	GT:AD:DP:GQ:PL:TP	0|1:76,12:88:99:256,0,3570:5	1|0:97,16:113:99:392,0,4780:5	0|0:64,5:69:4:0,4,2935:5
10	135491028	.	G	A	3173.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=301;MQ=38.63;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs370060335;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=370060335" target="_blank">rs370060335</a>;ExAC.Info.AC=5850;ExAC.Info.AN=114090;ExAC.Info.AF=0.051;ExAC.Info.AC_Het=10383;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.757G>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491028">View</a>	GT:AD:DP:GQ:PL:TP	0/1:83,12:95:99:142,0,3605:127	0/1:95,29:124:99:870,0,4145:127	0/1:70,12:82:99:148,0,2924:127
10	135491030	.	G	C	15273.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=323;MQ=38.69;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs141014245;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141014245" target="_blank">rs141014245</a>;ExAC.Info.AC=75940;ExAC.Info.AN=113668;ExAC.Info.AF=0.668;ExAC.Info.AC_Het=34793;ExAC.Info.AC_Hom=17416;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.759G>C;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491030">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,44:100:99:1619,0,2437:127	0/1:65,70:135:99:2875,0,2739:127	0/1:53,35:88:99:1263,0,2190:127
10	135491034	.	C	G	13645.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=361;MQ=38.70;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=3644;ExAC.Info.AN=114540;ExAC.Info.AF=0.032;ExAC.Info.AC_Het=2994;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.763C>G;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491034">View</a>	GT:AD:DP:GQ:PL:TP	0/1:53,59:112:99:1842,0,2237:127	0/1:87,63:150:99:1856,0,3848:127	0/1:37,62:99:99:1931,0,1367:127
10	135491039	.	C	T	3205.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=410;MQ=39.19;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=237;ExAC.Info.AN=114742;ExAC.Info.AF=2.066e-03;ExAC.Info.AC_Het=215;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.768C>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491039">View</a>	GT:AD:DP:GQ:PL:TP	0/1:105,20:125:99:474,0,4752:127	0/1:150,26:176:99:651,0,6804:127	0/1:97,12:109:99:168,0,3993:127
10	135491041	.	C	T	1457.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=422;MQ=39.14;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=5;ExAC.Info.AN=115142;ExAC.Info.AF=4.342e-05;ExAC.Info.AC_Het=680;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.770C>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491041">View</a>	GT:AD:DP:GQ:PL:TP	0|1:116,13:129:99:182,0,5400:70	1|0:160,23:183:99:469,0,7342:70	0|0:104,6:110:70:0,70,4545:70
10	135491048	.	A	T	2616.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=469;MQ=38.91;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=1940;ExAC.Info.AN=115626;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=1485;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.777A>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491048">View</a>	GT:AD:DP:GQ:PL:TP	0/1:130,17:147:99:113,0,5816:112	0/1:165,35:200:99:690,0,6981:112	0/1:106,16:122:99:171,0,4354:112
10	135491053	.	G	T	2018.73	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=502;MQ=38.94;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.782G>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491053">View</a>	GT:AD:DP:GQ:PL:TP	0/1:139,19:158:99:376,0,6253:11	0/1:188,26:214:99:523,0,8340:11	0/1:122,8:130:11:11,0,5096:11
10	135491059	.	C	T	2087.4	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=516;MQ=38.93;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=16359;ExAC.Info.AN=115518;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=14372;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.788C>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491059">View</a>	GT:AD:DP:GQ:PL:TP	0|1:142,19:161:99:370,0,6337:3	1|0:196,26:222:99:531,0,8746:3	0|0:124,9:133:1:0,1,5265:3
10	135491060	.	T	G	4846.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=511;MQ=39.02;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=51482;ExAC.Info.AN=115438;ExAC.Info.AF=0.446;ExAC.Info.AC_Het=50287;ExAC.Info.AC_Hom=26;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.789T>G;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491060">View</a>	GT:AD:DP:GQ:PL:TP	0/1:134,25:159:99:689,0,5729:127	0/1:185,35:220:99:904,0,8089:127	0/1:115,17:132:99:359,0,4798:127
10	135491068	.	G	T	25685.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=506;MQ=38.79;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=18296;ExAC.Info.AN=114266;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=46986;ExAC.Info.AC_Hom=2;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.797G>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491068">View</a>	GT:AD:DP:GQ:PL:TP	0/1:68,86:154:99:3261,0,3087:127	0/1:111,107:218:99:4129,0,4834:127	0/1:51,83:134:99:3212,0,1930:127
10	135491071	.	GC	G	20075.29	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=488;MQ=38.73;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=4;ExAC.Info.AN=113298;ExAC.Info.AF=3.531e-05;ExAC.Info.AC_Het=11;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.801delC;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491071">View</a>	GT:AD:DP:GQ:PL:TP	0/1:81,68:149:99:2576,0,3597:127	0/1:126,82:208:99:3078,0,5586:127	0/1:60,71:131:99:2768,0,2300:127
10	135491074	.	C	A	21215.29	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=476;MQ=38.68;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=2;ExAC.Info.AN=113066;ExAC.Info.AF=1.769e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.803C>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491074">View</a>	GT:AD:DP:GQ:PL:TP	0/1:75,70:145:99:2719,0,3347:127	0/1:118,86:204:99:3231,0,5195:127	0/1:56,71:127:99:2841,0,2132:127
10	135491075	.	C	A	3704.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=471;MQ=38.61;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=18;ExAC.Info.AN=112956;ExAC.Info.AF=1.594e-04;ExAC.Info.AC_Het=64;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.804C>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491075">View</a>	GT:AD:DP:GQ:PL:TP	0/1:122,21:143:99:521,0,5643:127	0/1:176,28:204:99:677,0,7895:127	0/1:112,12:124:99:149,0,4892:127
10	135491077	.	G	A	19251.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=461;MQ=38.30;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs201797682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201797682" target="_blank">rs201797682</a>;ExAC.Info.AC=32594;ExAC.Info.AN=112654;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=29394;ExAC.Info.AC_Hom=177;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.806G>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491077">View</a>	GT:AD:DP:GQ:PL:TP	0/1:78,63:141:99:2495,0,3428:127	0/1:121,77:198:99:3031,0,5360:127	0/1:58,64:122:99:2552,0,2282:127
10	135491079	.	C	T	23848.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=434;MQ=38.31;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.808C>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491079">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,76:135:99:3089,0,2717:127	0/1:92,93:185:99:3865,0,4172:127	0/1:42,72:114:99:2975,0,1620:127
10	135491081	.	G	T	17635.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=429;MQ=38.43;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=145;ExAC.Info.AN=112648;ExAC.Info.AF=1.287e-03;ExAC.Info.AC_Het=506;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.810G>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491081">View</a>	GT:AD:DP:GQ:PL:TP	0/1:75,60:135:99:2330,0,3398:127	0/1:115,68:183:99:2677,0,5060:127	0/1:52,59:111:99:2435,0,2165:127
10	135491083	.	G	T	41045.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=399;MQ=38.23;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs200279600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200279600" target="_blank">rs200279600</a>;ExAC.Info.AC=64425;ExAC.Info.AN=109528;ExAC.Info.AF=0.588;ExAC.Info.AC_Het=28639;ExAC.Info.AC_Hom=6958;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.812G>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491083">View</a>	GT:AD:DP:GQ:PL:TP	1|0:6,121:127:70:5217,0,70:70	0|1:9,158:167:99:6905,0,101:70	1|1:0,105:105:99:4849,328,0:70
10	135491085	.	T	A	1200.4	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=392;MQ=38.33;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=25254;ExAC.Info.AN=112592;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=19417;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.814T>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491085">View</a>	GT:AD:DP:GQ:PL:TP	0|1:111,13:124:99:206,0,5054:3	1|0:147,16:163:99:304,0,6627:3	0|0:98,7:105:1:0,1,4095:3
10	135491086	.	CA	C	1185.36	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=388;MQ=38.50;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.816delA;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491086">View</a>	GT:AD:DP:GQ:PL:TP	0|1:110,13:123:99:206,0,5054:3	1|0:145,15:160:99:304,0,6627:3	0|0:98,7:105:1:0,1,4095:3
10	135491092	.	G	T	1120.69	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=367;MQ=38.38;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=9;ExAC.Info.AN=112582;ExAC.Info.AF=7.994e-05;ExAC.Info.AC_Het=85;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.821G>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491092">View</a>	GT:AD:DP:GQ:PL:TP	0/1:104,11:115:99:227,0,4760:11	0/1:139,15:154:99:247,0,6188:11	0/1:93,5:98:11:11,0,3926:11
10	135491096	.	C	T	2755.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=361;MQ=38.36;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=52;ExAC.Info.AN=112488;ExAC.Info.AF=4.623e-04;ExAC.Info.AC_Het=37;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.825C>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491096">View</a>	GT:AD:DP:GQ:PL:TP	0/1:100,12:112:99:168,0,4516:127	0/1:123,30:153:99:849,0,5345:127	0/1:85,11:96:99:200,0,3620:127
10	135491097	.	C	A	688.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=356;MQ=38.41;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=8;ExAC.Info.AN=112498;ExAC.Info.AF=7.111e-05;ExAC.Info.AC_Het=364;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.826C>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491097">View</a>	GT:AD:DP:GQ:PL:TP	0/1:98,11:109:99:155,0,4500:34	0/1:140,11:151:34:34,0,6245:34	0/1:88,8:96:68:68,0,3713:34
10	135491099	.	C	CTT	2659.29	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=347;MQ=38.34;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.829_830insTT;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491099">View</a>	GT:AD:DP:GQ:PL:TP	0/1:95,11:106:99:167,0,4332:127	0/1:118,28:146:99:805,0,5351:127	0/1:84,11:95:99:206,0,3536:127
10	135491100	.	G	C	2475.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=340;MQ=38.19;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=18;ExAC.Info.AN=111980;ExAC.Info.AF=1.607e-04;ExAC.Info.AC_Het=4757;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.829G>C;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491100">View</a>	GT:AD:DP:GQ:PL:TP	0/1:92,12:104:99:227,0,4077:127	0/1:122,21:143:99:515,0,5301:127	0/1:83,10:93:99:167,0,3497:127
10	135491102	.	G	T	2524.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=340;MQ=38.18;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=108;ExAC.Info.AN=112286;ExAC.Info.AF=9.618e-04;ExAC.Info.AC_Het=59;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.831G>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491102">View</a>	GT:AD:DP:GQ:PL:TP	0/1:93,11:104:99:176,0,4206:127	0/1:116,28:144:99:824,0,5070:127	0/1:82,10:92:99:173,0,3413:127
10	135491103	.	G	T	2470.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=343;MQ=38.15;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=40;ExAC.Info.AN=112076;ExAC.Info.AF=3.569e-04;ExAC.Info.AC_Het=85;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.832G>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491103">View</a>	GT:AD:DP:GQ:PL:TP	0/1:93,11:104:99:179,0,4164:127	0/1:117,28:145:99:821,0,5112:127	0/1:84,10:94:99:167,0,3497:127
10	135491107	.	G	A	1942.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=332;MQ=38.08;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=552;ExAC.Info.AN=111880;ExAC.Info.AF=4.934e-03;ExAC.Info.AC_Het=305;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.836G>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491107">View</a>	GT:AD:DP:GQ:PL:TP	0/1:83,17:100:99:426,0,3753:127	0/1:130,14:144:99:161,0,5647:127	0/1:77,11:88:99:194,0,3271:127
10	135491108	.	C	T	722.12	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=326;MQ=38.17;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=35;ExAC.Info.AN=111760;ExAC.Info.AF=3.132e-04;ExAC.Info.AC_Het=24;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.837C>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491108">View</a>	GT:AD:DP:GQ:PL:TP	0/1:91,9:100:99:140,0,4125:8	0/1:130,10:140:8:8,0,5957:8	0/1:79,7:86:83:83,0,3503:8
10	135491109	.	C	T	861.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=325;MQ=38.20;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.838C>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491109">View</a>	GT:AD:DP:GQ:PL:TP	0|1:89,11:100:99:194,0,3954:40	1|0:126,14:140:99:197,0,5658:40	0|0:80,5:85:40:0,40,3510:40
10	135491112	.	C	T	3718.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=316;MQ=38.37;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=205;ExAC.Info.AN=110856;ExAC.Info.AF=1.849e-03;ExAC.Info.AC_Het=11415;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.841C>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491112">View</a>	GT:AD:DP:GQ:PL:TP	0/1:84,14:98:99:326,0,3861:127	0/1:105,32:137:99:1016,0,4722:127	0/1:69,12:81:99:290,0,2945:127
10	135491113	.	G	C	1843.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=309;MQ=38.56;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs372931654;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=372931654" target="_blank">rs372931654</a>;ExAC.Info.AC=17;ExAC.Info.AN=110784;ExAC.Info.AF=1.535e-04;ExAC.Info.AC_Het=4301;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.842G>C;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491113">View</a>	GT:AD:DP:GQ:PL:TP	0/1:84,11:95:99:191,0,3996:109	0/1:117,18:135:99:434,0,5231:109	0/1:71,8:79:99:110,0,3125:109
10	135491115	.	C	A	2806.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=302;MQ=38.71;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.844C>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491115">View</a>	GT:AD:DP:GQ:PL:TP	0/1:81,11:92:99:206,0,3669:127	0/1:107,26:133:99:809,0,4661:127	0/1:63,14:77:99:392,0,2687:127
10	135491122	.	G	A	2491.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=269;MQ=38.72;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=204;ExAC.Info.AN=112308;ExAC.Info.AF=1.816e-03;ExAC.Info.AC_Het=475;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.851G>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491122">View</a>	GT:AD:DP:GQ:PL:TP	0/1:72,10:82:99:191,0,3294:127	0/1:93,26:119:99:791,0,4328:127	0/1:58,10:68:99:320,0,2525:127
10	135491124	.	C	A	2074.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=255;MQ=39.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.853C>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491124">View</a>	GT:AD:DP:GQ:PL:TP	0/1:67,9:76:99:159,0,3133:127	0/1:89,24:113:99:767,0,4005:127	0/1:59,7:66:99:155,0,2495:127
10	135491126	.	C	T	12938.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=196;MQ=39.21;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs377582377;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=377582377" target="_blank">rs377582377</a>;ExAC.Info.AC=7603;ExAC.Info.AN=111354;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=6170;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.855C>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491126">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,41:63:99:1733,0,876:127	0/1:31,49:80:99:2200,0,1260:127	0/1:18,35:53:99:1622,0,677:127
10	135491135	.	C	A	436.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=175;MQ=39.48;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=11;ExAC.Info.AN=104406;ExAC.Info.AF=1.054e-04;ExAC.Info.AC_Het=887;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.864C>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491135">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,7:56:99:115,0,2295:28	0/1:73,7:80:31:31,0,3429:28	0/1:35,4:39:33:33,0,1710:28
10	135491140	.	C	A	471.45	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=123;MQ=38.89;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.869C>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491140">View</a>	GT:AD:DP:GQ:PL:TP	0/1:33,5:38:99:157,0,1708:16	0/1:52,5:57:17:17,0,2745:16	0/1:26,2:28:27:27,0,1209:16
10	135491147	.	C	A	202.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=53;MQ=41.03;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=4;ExAC.Info.AN=97250;ExAC.Info.AF=4.113e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.876C>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491147">View</a>	GT:AD:DP:GQ:PL:TP	0|0:15,1:16:39:0,39,1243:38	0|0:25,1:26:69:0,69,1693:38	0|1:9,2:11:99:120,0,660:38
10	135491152	.	C	A	1043.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=35;MQ=42.66;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=6;ExAC.Info.AN=91000;ExAC.Info.AF=6.593e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.881C>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491152">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,3:8:86:86,0,252:82	0/1:12,7:19:99:233,0,538:82	0/1:5,3:8:86:86,0,164:82
10	135491155	.	G	T	201.44	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=29;MQ=43.82;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs374365746;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374365746" target="_blank">rs374365746</a>;ExAC.Info.AC=157;ExAC.Info.AN=78210;ExAC.Info.AF=2.007e-03;ExAC.Info.AC_Het=51;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.884G>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491155">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,1:6:9:9,0,283:9	1|0:12,5:17:99:113,0,600:9	0|0:6,0:6:18:0,18,270:9
10	135491163	.	C	T	209.42	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=11;MQ=51.14;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs372607348;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=372607348" target="_blank">rs372607348</a>;ExAC.Info.AC=22;ExAC.Info.AN=68794;ExAC.Info.AF=3.198e-04;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.892C>T;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491163">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,1:4:30:30,0,165:20	0/1:4,1:5:21:21,0,291:20	0/1:2,0:2:78:78,0,78:20
10	135491168	.	C	A	317.53	PASS	InheritancePattern=unknown;AC=2;AF=0.500;AN=4;DP=6;MQ=58.46;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./.;NA12891_GT=0/1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.897C>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491168">View</a>	GT:AD:DP:GQ:PL:TP	0/1:1,1:2:36:73,0,36:32	0/1:1,3:4:33:123,0,33:32	./.
10	135491172	.	G	A	74.04	PASS	InheritancePattern=unknown;AC=2;AF=0.500;AN=4;DP=6;MQ=58.46;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./.;NA12891_GT=0/1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.901G>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491172">View</a>	GT:AD:DP:GQ:PL:TP	0/1:1,1:2:39:39,0,39:32	0/1:3,1:4:33:33,0,123:32	./.
10	135491180	.	C	A	254.04	PASS	InheritancePattern=unknown;AC=2;AF=0.500;AN=4;DP=6;MQ=58.46;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./.;NA12891_GT=0/1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.909C>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491180">View</a>	GT:AD:DP:GQ:PL:TP	0/1:1,1:2:39:39,0,39:32	0/1:1,3:4:33:123,0,33:32	./.
10	135491194	.	G	A	150.74	PASS	InheritancePattern=unknown;AC=3;AF=0.750;AN=4;DP=3;MQ=56.25;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=./.;NA12891_GT=1|1;ExAC.Info.AC=45;ExAC.Info.AN=27592;ExAC.Info.AF=1.631e-03;ExAC.Info.AC_Het=16;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.923G>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491194">View</a>	GT:AD:DP:GQ:PL:TP	0|1:1,0:1:2:0,3,45:3	1|1:0,2:2:6:90,6,0:3	./.
10	135491200	.	C	G	150.74	PASS	InheritancePattern=unknown;AC=3;AF=0.750;AN=4;DP=3;MQ=56.25;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=./.;NA12891_GT=1|1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.929C>G;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491200">View</a>	GT:AD:DP:GQ:PL:TP	0|1:1,0:1:2:0,3,45:3	1|1:0,2:2:6:90,6,0:3	./.
10	135491202	.	G	A	15.85	LowQual	InheritancePattern=unknown;AC=1;AF=0.250;AN=4;DP=3;MQ=56.25;MQ0=0;NA12878i_GT=1|0;NA12892_GT=./.;NA12891_GT=0|0;ExAC.Info.AC=1;ExAC.Info.AN=21336;ExAC.Info.AF=4.687e-05;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.931G>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491202">View</a>	GT:AD:DP:GQ:PL:TP	1|0:0,1:1:2:45,3,0:3	0|0:2,0:2:6:0,6,90:3	./.
10	135491204	.	C	G	201.49	PASS	InheritancePattern=unknown;AC=4;AF=1.00;AN=4;DP=3;MQ=56.25;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=./.;NA12891_GT=1|1;dbSNP139.ID=rs141995823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141995823" target="_blank">rs141995823</a>;ExAC.Info.AC=238;ExAC.Info.AN=9342;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=9;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.933C>G;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491204">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,1:1:3:45,3,0:3	1|1:0,2:2:6:90,6,0:3	./.
10	135491208	.	G	A	17.68	LowQual	InheritancePattern=unknown;AC=1;AF=0.250;AN=4;DP=2;MQ=58.31;MQ0=0;NA12878i_GT=1|0;NA12892_GT=./.;NA12891_GT=0|0;ExAC.Info.AC=102;ExAC.Info.AN=18468;ExAC.Info.AF=5.523e-03;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.937G>A;snpeff.Gene_Name=DUX4L13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420742;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUX4L13" target="_blank">DUX4L13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUX4L13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=10:135491208">View</a>	GT:AD:DP:GQ:PL:TP	1|0:0,1:1:2:45,3,0:1	0|0:1,0:1:3:0,3,45:1	./.
11	193096	.	T	C	19257.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2280539;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2280539" target="_blank">rs2280539</a>;ExAC.Info.AC=61869;ExAC.Info.AN=125806;ExAC.Info.AF=0.492;ExAC.Info.AC_Het=53267;ExAC.Info.AC_Hom=4013;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+12515A>G;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410108;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=4;snpeff.Amino_Acid_Change=c.-4T>C;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342878;SAVANT_GENE=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;SAVANT_INFO=+/1.5kb/3/0.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCGB1C1+c.-4T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:193096">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,85:123:99:2338,0,840:127	0/1:36,123:159:99:3520,0,724:127	0/1:73,48:121:99:1233,0,2171:127
11	193112	.	C	T	5059.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=416;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7951297;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7951297" target="_blank">rs7951297</a>;ExAC.Info.AC=37875;ExAC.Info.AN=125968;ExAC.Info.AF=0.301;ExAC.Info.AC_Het=37428;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+12499G>A;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410108;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13C>T;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13C>T;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg5Cys/c.13C>T;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342878;SAVANT_GENE=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;SAVANT_INFO=+/1.5kb/3/0.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.13C>T_p.Arg5Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCGB1C1+c.13C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:193112">View</a>	GT:AD:DP:GQ:PL:TP	0/1:99,24:123:99:457,0,2831:127	0/1:117,43:160:99:996,0,3187:127	0/1:111,22:133:99:387,0,3338:127
11	193194	.	T	C	6946.55	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=222;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=0/1;dbSNP139.ID=rs2686896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2686896" target="_blank">rs2686896</a>;ExAC.Info.AC=78765;ExAC.Info.AN=124990;ExAC.Info.AF=0.630;ExAC.Info.AC_Het=44418;ExAC.Info.AC_Hom=15818;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.55+40T>C;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+12417A>G;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410108;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56T>C;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56T>C;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342878;SAVANT_GENE=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;SAVANT_INFO=+/1.5kb/3/0.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.55+40T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCGB1C1+c.55+40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:193194">View</a>	GT:AD:DP:GQ:PL	./1:9,32:61:25:885,25,120	0/1:37,25:80:99:658,0,869	./1:17,35:81:73:1003,73,369
11	193194	.	T	G	6946.55	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.667;AN=3;DP=222;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./0;ExAC.Info.AC=1128;ExAC.Info.AN=124990;ExAC.Info.AF=9.025e-03;ExAC.Info.AC_Het=44418;ExAC.Info.AC_Hom=15818;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.55+40T>G;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+12417A>C;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410108;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56T>G;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.56T>G;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342878;SAVANT_GENE=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;SAVANT_INFO=+/1.5kb/3/0.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.55+40T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCGB1C1+c.55+40T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:193194">View</a>	GT:AD:DP:GQ:PL	./1:9,20:61:25:885,633,770	./0:37,18:80:99:658,408,1322	./1:17,29:81:73:1003,498,792
11	193863	.	T	C	12884.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2294081;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2294081" target="_blank">rs2294081</a>;ExAC.Info.AC=79639;ExAC.Info.AN=125586;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=45503;ExAC.Info.AC_Hom=16760;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+11748A>G;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410108;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys69Cys/c.207T>C;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342878;SAVANT_GENE=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;SAVANT_INFO=+/1.5kb/3/0.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.207T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCGB1C1+c.207T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:193863">View</a>	GT:AD:DP:GQ:PL:TP	0/1:16,42:58:99:1614,0,330:127	0/1:44,42:86:99:1618,0,1152:127	0/1:14,39:53:99:1536,0,309:127
11	193865	.	T	G	7709.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2686894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2686894" target="_blank">rs2686894</a>;ExAC.Info.AC=62741;ExAC.Info.AN=125748;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=62389;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+11746A>C;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410108;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aGa;snpeff.Amino_Acid_Change=p.Ile70Arg/c.209T>G;snpeff.Amino_Acid_length=95;snpeff.Gene_Name=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342878;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342878;SAVANT_GENE=SCGB1C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCGB1C1" target="_blank">SCGB1C1</a>;SAVANT_INFO=+/1.5kb/3/0.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.209T>G_p.Ile70Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCGB1C1+c.209T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:193865">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,31:56:99:956,0,1100:127	0/1:45,40:85:99:1213,0,2458:127	0/1:24,28:52:99:841,0,1059:127
11	198062	.	C	G	7048.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11605246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11605246" target="_blank">rs11605246</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.311-137C>G;snpeff.Amino_Acid_length=254;snpeff.Gene_Name=ODF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF3" target="_blank">ODF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325113;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+7549G>C;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF3" target="_blank">ODF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410108;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325113;SAVANT_GENE=ODF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF3" target="_blank">ODF3</a>;SAVANT_INFO=+/3.5kb/7/1.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.311-137C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ODF3+c.311-137C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:198062">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,52:107:99:1413,0,1471:127	0|0:148,0:148:99:0,444,5279:127	1|0:44,41:85:99:1138,0,1261:127
11	199492	.	G	A	824.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72878024;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72878024" target="_blank">rs72878024</a>;ExAC.Info.AC=4756;ExAC.Info.AN=118028;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=1744;ExAC.Info.AC_Hom=57;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.168+6119C>T;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410108;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:STPGR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658G>A;snpeff.Amino_Acid_length=254;snpeff.Gene_Name=ODF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325113;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:STPGR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.658G>A;snpeff.Amino_Acid_length=254;snpeff.Gene_Name=ODF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325113;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala220Thr/c.658G>A;snpeff.Amino_Acid_length=254;snpeff.Gene_Name=ODF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325113;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325113;SAVANT_GENE=ODF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ODF3" target="_blank">ODF3</a>;SAVANT_INFO=+/3.5kb/7/1.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.658G>A_p.Ala220Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ODF3+c.658G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:199492">View</a>	GT:AD:DP:GQ:PL:TP	0|0:28,0:28:84:0,84,1038:80	0|1:25,18:43:99:431,0,748:80	0|0:28,0:28:84:0,84,1072:80
11	205889	.	T	C	5448.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72878029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72878029" target="_blank">rs72878029</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111+63A>G;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410108;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382762;SAVANT_GENE=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;SAVANT_INFO=-/4.5kb/4/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.111+63A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BET1L+c.111+63A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:205889">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,36:66:99:1066,0,847:127	0|0:84,0:84:99:0,252,2965:127	1|0:24,30:54:99:920,0,726:127
11	207359	.	C	CGGCCACAGCCGCCTCAGACGT	3429.9	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=30;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs375304678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=375304678" target="_blank">rs375304678</a>;ExAC.Info.AC=34134;ExAC.Info.AN=106720;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=1632;ExAC.Info.AC_Hom=3009;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=39;snpeff.Amino_Acid_Change=c.-39_-40insACGTCTGAGGCGGCTGTGGCC;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000410108;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000382762;SAVANT_GENE=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;SAVANT_INFO=-/4.5kb/4/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-59_-39dup21;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BET1L+c.-59_-39dup21+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:207359">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,10:10:40:476,40,0:33	1|1:0,12:12:43:582,43,0:33	1|1:0,8:8:34:412,34,0:33
11	207400	.	A	G	2475.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=37;MQ=70.70;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs71487219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71487219" target="_blank">rs71487219</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0062.2:Gabp];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382762;SAVANT_GENE=BET1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BET1L" target="_blank">BET1L</a>;SAVANT_INFO=-/4.5kb/4/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-79T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BET1L+c.-79T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:207400">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,14:14:42:462,42,0:32	1|0:7,5:12:99:167,0,208:32	1|1:0,11:11:33:399,33,0:32
11	209002	.	A	G	5727.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2177173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2177173" target="_blank">rs2177173</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.84+64A>G;snpeff.Amino_Acid_length=537;snpeff.Gene_Name=RIC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC8A" target="_blank">RIC8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325207;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325207;SAVANT_GENE=RIC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC8A" target="_blank">RIC8A</a>;SAVANT_INFO=+/6.6kb/10/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.84+64A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIC8A+c.84+64A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:209002">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:938,72,0:59	1|1:0,20:20:60:734,60,0:59	1|1:0,25:25:75:926,75,0:59
11	212408	.	C	T	2913.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72878032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72878032" target="_blank">rs72878032</a>;ExAC.Info.AC=22198;ExAC.Info.AN=126666;ExAC.Info.AF=0.175;ExAC.Info.AC_Het=17006;ExAC.Info.AC_Hom=2328;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.970-8C>T;snpeff.Amino_Acid_length=537;snpeff.Gene_Name=RIC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC8A" target="_blank">RIC8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325207;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.970C>T;snpeff.Amino_Acid_length=537;snpeff.Gene_Name=RIC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC8A" target="_blank">RIC8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325207;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325207;SAVANT_GENE=RIC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC8A" target="_blank">RIC8A</a>;SAVANT_INFO=+/6.6kb/10/2.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.970-8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIC8A+c.970-8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:212408">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,19:32:99:563,0,366:127	0|0:65,0:65:99:0,195,2273:127	1|0:25,17:42:99:499,0,782:127
11	214421	.	G	C	11648.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=341;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3216;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3216" target="_blank">rs3216</a>;ExAC.Info.AC=8308;ExAC.Info.AN=87228;ExAC.Info.AF=0.095;ExAC.Info.AC_Het=3446;ExAC.Info.AC_Hom=406;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=71;snpeff.Amino_Acid_Change=c.*71G>C;snpeff.Amino_Acid_length=537;snpeff.Gene_Name=RIC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC8A" target="_blank">RIC8A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000325207;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325207;SAVANT_GENE=RIC8A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC8A" target="_blank">RIC8A</a>;SAVANT_INFO=+/6.6kb/10/2.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*71G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIC8A+c.*71G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:214421">View</a>	GT:AD:DP:GQ:PL:TP	0/1:54,47:101:99:1170,0,1719:127	0/1:58,55:113:99:1616,0,1925:127	0/1:60,67:127:99:1957,0,1839:127
11	219089	.	T	C	9707.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs511744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=511744" target="_blank">rs511744</a>;ExAC.Info.AC=76704;ExAC.Info.AN=118640;ExAC.Info.AF=0.647;ExAC.Info.AC_Het=10150;ExAC.Info.AC_Hom=11841;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.970-48A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.970T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.970T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.970T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.970T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.970T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382743;SAVANT_GENE=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;SAVANT_INFO=-/21.0kb/7/2.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.970-48A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIRT3+c.970-48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:219089">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1193,105,0:110	1|1:0,44:44:99:1472,132,0:110	1|1:0,37:37:99:1364,111,0:110
11	230368	.	C	T	8320.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=855;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs536715;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=536715" target="_blank">rs536715</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.807+84G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.808C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382743;SAVANT_GENE=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;SAVANT_INFO=-/21.0kb/7/2.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.807+84G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIRT3+c.807+84G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:230368">View</a>	GT:AD:DP:GQ:PL:TP	0|0:254,1:255:99:0,731,8946:127	0|1:144,150:294:99:4179,0,4435:127	0|0:306,0:306:99:0,919,10686:127
11	233067	.	C	T	23082.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=784;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11246020;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246020" target="_blank">rs11246020</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Metabolic_syndrome|_association_with;hgmd_2014.2.OMIM_ID=604481;hgmd_2014.2.PubMed=21856199;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21856199" target="_blank">21856199</a>;ExAC.Info.AC=21160;ExAC.Info.AN=126704;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=17065;ExAC.Info.AC_Hom=2045;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.622C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val208Ile/c.622G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382743;SAVANT_GENE=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;SAVANT_INFO=-/21.0kb/7/2.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.622G>A_p.Val208Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIRT3+c.622G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:233067">View</a>	GT:AD:DP:GQ:PL:TP	0/1:122,125:247:99:3221,0,3385:127	0/1:164,149:313:99:3946,0,4694:127	0/1:116,108:224:99:3024,0,3190:127
11	233212	.	C	A	13674.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=408;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11555236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11555236" target="_blank">rs11555236</a>;ExAC.Info.AC=21124;ExAC.Info.AN=126694;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=17047;ExAC.Info.AC_Hom=1992;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcT;snpeff.Amino_Acid_Change=p.Ser159Ser/c.477G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382743;SAVANT_GENE=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;SAVANT_INFO=-/21.0kb/7/2.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.477G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIRT3+c.477G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:233212">View</a>	GT:AD:DP:GQ:PL:TP	0/1:72,73:145:99:2079,0,1962:127	0/1:76,71:147:99:2072,0,2225:127	0/1:52,64:116:99:2034,0,1536:127
11	233298	.	T	G	8407.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12365010;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12365010" target="_blank">rs12365010</a>;ExAC.Info.AC=21039;ExAC.Info.AN=126662;ExAC.Info.AF=0.166;ExAC.Info.AC_Het=16719;ExAC.Info.AC_Hom=1962;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.473+45A>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474T>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474T>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474T>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474T>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474T>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474T>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474T>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474T>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Deacetylase_sirtuin-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.474T>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382743;SAVANT_GENE=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;SAVANT_INFO=-/21.0kb/7/2.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.473+45A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIRT3+c.473+45A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:233298">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,39:73:99:1215,0,947:127	0/1:60,42:102:99:1245,0,1733:127	0/1:46,42:88:99:1326,0,1292:127
11	236343	.	A	G	9025.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=88;MQ=69.63;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7118852;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7118852" target="_blank">rs7118852</a>;ExAC.Info.AC=68391;ExAC.Info.AN=69362;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=12;ExAC.Info.AC_Hom=1700;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.-15T>C;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382743;SAVANT_GENE=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;SAVANT_INFO=-/21.0kb/7/2.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-15T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIRT3+c.-15T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:236343">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,26:26:78:928,78,0:80	1|1:0,27:27:81:981,81,0:80	1|1:0,35:35:99:1261,105,0:80
11	236370	.	C	CCGGCGCCCCGCCCG	3242.9	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=25;MQ=69.30;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ExAC.Info.AC=364;ExAC.Info.AN=10422;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=2;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=43;snpeff.Amino_Acid_Change=c.-43_-44insCGGGCGGGGCGCCG;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382743;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0162.1:Egr1];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000382743;SAVANT_GENE=SIRT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIRT3" target="_blank">SIRT3</a>;SAVANT_INFO=-/21.0kb/7/2.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-43_-42insCGGGCGGGGCGCCG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIRT3+c.-43_-42insCGGGCGGGGCGCCG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:236370">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,8:8:23:340,23,0:22	1|1:0,8:8:23:358,23,0:22	1|1:0,9:9:29:426,29,0:22
11	237087	.	A	G	19721.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1045288;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1045288" target="_blank">rs1045288</a>;ExAC.Info.AC=98308;ExAC.Info.AN=126664;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=21402;ExAC.Info.AC_Hom=38138;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn13Ser/c.38A>G;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.38A>G_p.Asn13Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.38A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:237087">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2299,201,0:127	1|1:0,78:78:99:2796,234,0:127	1|1:0,67:67:99:2342,201,0:127
11	244106	.	A	G	26735.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10902112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902112" target="_blank">rs10902112</a>;ExAC.Info.AC=97719;ExAC.Info.AN=126698;ExAC.Info.AF=0.771;ExAC.Info.AC_Het=21999;ExAC.Info.AC_Hom=37608;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu54Gly/c.161A>G;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.161A>G_p.Glu54Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.161A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:244106">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2737,249,0:127	1|1:2,124:126:99:4243,329,0:127	1|1:0,122:122:99:4148,367,0:127
11	244108	.	A	G	36794.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7107362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7107362" target="_blank">rs7107362</a>;ExAC.Info.AC=97722;ExAC.Info.AN=126698;ExAC.Info.AF=0.771;ExAC.Info.AC_Het=22008;ExAC.Info.AC_Hom=37606;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn55Asp/c.163A>G;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.163A>G_p.Asn55Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.163A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:244108">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:3715,250,0:127	1|1:0,122:122:99:5651,382,0:127	1|1:0,123:123:99:5703,385,0:127
11	244115	.	G	A	35486.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7128044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7128044" target="_blank">rs7128044</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=97703;ExAC.Info.AN=126698;ExAC.Info.AF=0.771;ExAC.Info.AC_Het=22000;ExAC.Info.AC_Hom=37597;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tAc;snpeff.Amino_Acid_Change=p.Cys57Tyr/c.170G>A;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.170G>A_p.Cys57Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.170G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:244115">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:3528,238,0:127	1|1:0,121:121:99:5450,373,0:127	1|1:0,117:117:99:5461,367,0:127
11	244129	.	C	T	25121.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7116130;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7116130" target="_blank">rs7116130</a>;ExAC.Info.AC=98175;ExAC.Info.AN=126692;ExAC.Info.AF=0.775;ExAC.Info.AC_Het=21641;ExAC.Info.AC_Hom=38151;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg62Trp/c.184C>T;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.184C>T_p.Arg62Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.184C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:244129">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2463,222,0:127	1|1:0,129:129:99:4274,388,0:127	1|1:0,114:114:99:3789,342,0:127
11	244141	.	G	A	24455.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7128029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7128029" target="_blank">rs7128029</a>;ExAC.Info.AC=98156;ExAC.Info.AN=126696;ExAC.Info.AF=0.775;ExAC.Info.AC_Het=21645;ExAC.Info.AC_Hom=38127;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala66Thr/c.196G>A;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.196G>A_p.Ala66Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.196G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:244141">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2295,219,0:127	1|1:0,128:128:99:4165,385,0:127	1|1:0,116:116:99:3866,349,0:127
11	244167	.	C	T	28161.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1128320;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1128320" target="_blank">rs1128320</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=97948;ExAC.Info.AN=126696;ExAC.Info.AF=0.773;ExAC.Info.AC_Het=21825;ExAC.Info.AC_Hom=37822;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn74Asn/c.222C>T;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.222C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.222C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:244167">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2820,190,0:127	1|1:0,111:111:99:4996,340,0:127	1|1:0,87:87:99:3954,268,0:127
11	244171	.	T	C	27732.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1128321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1128321" target="_blank">rs1128321</a>;ExAC.Info.AC=97949;ExAC.Info.AN=126696;ExAC.Info.AF=0.773;ExAC.Info.AC_Het=21828;ExAC.Info.AC_Hom=37826;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu76Leu/c.226T>C;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.226T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.226T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:244171">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2869,196,0:127	1|1:0,107:107:99:4862,328,0:127	1|1:0,85:85:99:3916,265,0:127
11	244197	.	T	C	16416.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1128322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1128322" target="_blank">rs1128322</a>;ExAC.Info.AC=98211;ExAC.Info.AN=126698;ExAC.Info.AF=0.775;ExAC.Info.AC_Het=21640;ExAC.Info.AC_Hom=38192;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His84His/c.252T>C;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.252T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.252T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:244197">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:2035,168,0:127	1|1:0,80:80:99:2680,240,0:127	1|1:0,71:71:99:2533,213,0:127
11	244414	.	C	T	31790.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=410;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2272565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272565" target="_blank">rs2272565</a>;ExAC.Info.AC=98238;ExAC.Info.AN=126702;ExAC.Info.AF=0.775;ExAC.Info.AC_Het=21641;ExAC.Info.AC_Hom=38256;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.272-12C>T;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.272-12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.272-12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:244414">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:3973,352,0:127	1|1:0,179:179:99:6161,538,0:127	1|1:0,114:114:99:3960,343,0:127
11	244490	.	ATACCTTTTAG	A	34469.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3830667;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3830667" target="_blank">rs3830667</a>;ExAC.Info.AC=97591;ExAC.Info.AN=126666;ExAC.Info.AF=0.770;ExAC.Info.AC_Het=22062;ExAC.Info.AC_Hom=37484;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.315+22_315+31delTACCTTTTAG;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.315+32_315+41del10;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.315+32_315+41del10+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:244490">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,128:128:99:4393,382,0:127	1|1:0,176:176:99:6389,527,0:127	1|1:0,132:132:99:4545,397,0:127
11	244552	.	A	G	20739.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2272566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272566" target="_blank">rs2272566</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.315+83A>G;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.315+83A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.315+83A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:244552">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,63:131:99:1835,0,2111:127	1|1:0,162:162:99:5694,487,0:127	0|1:64,66:130:99:2005,0,1887:127
11	250877	.	C	T	8663.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12793187;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12793187" target="_blank">rs12793187</a>;ExAC.Info.AC=16981;ExAC.Info.AN=126704;ExAC.Info.AF=0.134;ExAC.Info.AC_Het=13958;ExAC.Info.AC_Hom=1506;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.843+12C>T;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PCI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.844C>T;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PCI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.844C>T;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PCI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.844C>T;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PCI];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.844C>T;snpeff.Amino_Acid_length=378;snpeff.Gene_Name=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431206;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431206;SAVANT_GENE=PSMD13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMD13" target="_blank">PSMD13</a>;SAVANT_INFO=+/16.0kb/11/1.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.843+12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMD13+c.843+12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:250877">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,43:98:99:1048,0,1666:127	0/1:63,40:103:99:1032,0,2145:127	0/1:79,65:144:99:1732,0,2145:127
11	279798	.	G	A	5495.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4758626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758626" target="_blank">rs4758626</a>;ExAC.Info.AC=37671;ExAC.Info.AN=123792;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=18382;ExAC.Info.AC_Hom=4243;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.311-36G>A;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312165;SAVANT_GENE=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;SAVANT_INFO=+/6.7kb/8/2.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.311-36G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP6+c.311-36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:279798">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,30:51:99:723,0,527:127	0/1:31,30:61:99:768,0,876:127	0/1:26,34:60:99:864,0,717:127
11	280221	.	A	C	15124.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6421985;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6421985" target="_blank">rs6421985</a>;ExAC.Info.AC=44702;ExAC.Info.AN=65076;ExAC.Info.AF=0.687;ExAC.Info.AC_Het=2433;ExAC.Info.AC_Hom=4183;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Ctg;snpeff.Amino_Acid_Change=p.Met163Leu/c.487A>C;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312165;SAVANT_GENE=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;SAVANT_INFO=+/6.7kb/8/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.487A>C_p.Met163Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP6+c.487A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:280221">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1623,132,0:127	1|1:0,50:50:99:1947,150,0:127	1|1:0,50:50:99:1821,150,0:127
11	280464	.	C	G	5527.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77447196;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77447196" target="_blank">rs77447196</a>;cosmic68.Histology_subtype=oligodendroglioma_Grade_II;ExAC.Info.AC=21636;ExAC.Info.AN=122112;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=15673;ExAC.Info.AC_Hom=2241;snpeff.Effect=sequence_feature[domain:NACHT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.730C>G;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccg/Gcg;snpeff.Amino_Acid_Change=p.Pro244Ala/c.730C>G;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312165;SAVANT_GENE=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;SAVANT_INFO=+/6.7kb/8/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.730C>G_p.Pro244Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP6+c.730C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:280464">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,26:53:99:750,0,704:127	0|0:45,0:45:99:0,135,1736:127	1|0:21,31:52:99:1055,0,537:127
11	280673	.	C	T	7298.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs12807092;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12807092" target="_blank">rs12807092</a>;ExAC.Info.AC=70504;ExAC.Info.AN=108274;ExAC.Info.AF=0.651;ExAC.Info.AC_Het=9880;ExAC.Info.AC_Hom=15407;snpeff.Effect=sequence_feature[domain:NACHT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.939C>T;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser313Ser/c.939C>T;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312165;SAVANT_GENE=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;SAVANT_INFO=+/6.7kb/8/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.939C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP6+c.939C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:280673">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1010,90,0:89	1|0:18,15:33:99:450,0,602:89	1|1:0,41:41:99:1514,123,0:89
11	280816	.	A	T	34779.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=408;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7482965;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7482965" target="_blank">rs7482965</a>;ExAC.Info.AC=100097;ExAC.Info.AN=126316;ExAC.Info.AF=0.792;ExAC.Info.AC_Het=17044;ExAC.Info.AC_Hom=40863;snpeff.Effect=sequence_feature[domain:NACHT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1082A>T;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAt/tTt;snpeff.Amino_Acid_Change=p.Tyr361Phe/c.1082A>T;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312165;SAVANT_GENE=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;SAVANT_INFO=+/6.7kb/8/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1082A>T_p.Tyr361Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP6+c.1082A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:280816">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,114:114:99:3812,343,0:127	1|1:0,143:143:99:4938,429,0:127	1|1:0,151:151:99:5143,454,0:127
11	280817	.	T	C	47496.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7482279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7482279" target="_blank">rs7482279</a>;ExAC.Info.AC=100095;ExAC.Info.AN=126316;ExAC.Info.AF=0.792;ExAC.Info.AC_Het=17053;ExAC.Info.AC_Hom=40874;snpeff.Effect=sequence_feature[domain:NACHT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1083T>C;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr361Tyr/c.1083T>C;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312165;SAVANT_GENE=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;SAVANT_INFO=+/6.7kb/8/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1083T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP6+c.1083T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:280817">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:5163,346,0:127	1|1:0,144:144:99:6466,436,0:127	1|1:0,152:152:99:6839,461,0:127
11	284538	.	T	C	14633.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6598047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6598047" target="_blank">rs6598047</a>;ExAC.Info.AC=83227;ExAC.Info.AN=126342;ExAC.Info.AF=0.659;ExAC.Info.AC_Het=24483;ExAC.Info.AC_Hom=28109;snpeff.Effect=sequence_feature[repeat:LRR_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2436T>C;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro812Pro/c.2436T>C;snpeff.Amino_Acid_length=892;snpeff.Gene_Name=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312165;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312165;SAVANT_GENE=NLRP6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP6" target="_blank">NLRP6</a>;SAVANT_INFO=+/6.7kb/8/2.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.2436T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP6+c.2436T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:284538">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1759,147,0:127	1|1:0,67:67:99:2261,201,0:127	1|1:0,51:51:99:1695,153,0:127
11	290816	.	A	G	10486.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10902120;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902120" target="_blank">rs10902120</a>;ExAC.Info.AC=89915;ExAC.Info.AN=126230;ExAC.Info.AF=0.712;ExAC.Info.AC_Het=24075;ExAC.Info.AC_Hom=32133;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala203Ala/c.609A>G;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=ATHL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATHL1" target="_blank">ATHL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409479;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409548;SAVANT_GENE=ATHL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATHL1" target="_blank">ATHL1</a>;SAVANT_INFO=+/7.0kb/14/3.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.609A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATHL1+c.609A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:290816">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1238,111,0:110	1|0:20,24:44:99:717,0,516:110	1|1:0,56:56:99:1990,168,0:110
11	293001	.	A	AG	1137.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs35259273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35259273" target="_blank">rs35259273</a>;ExAC.Info.AC=39859;ExAC.Info.AN=126656;ExAC.Info.AF=0.315;ExAC.Info.AC_Het=25264;ExAC.Info.AC_Hom=7181;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1256+19_1256+20insG;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=ATHL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATHL1" target="_blank">ATHL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409479;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000409548;SAVANT_GENE=ATHL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATHL1" target="_blank">ATHL1</a>;SAVANT_INFO=+/7.0kb/14/3.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1270+6dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATHL1+c.1270+6dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:293001">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1760:127	0|0:70,0:70:99:0,211,2497:127	0|1:33,21:54:99:592,0,972:127
11	293188	.	T	C	4896.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12801980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12801980" target="_blank">rs12801980</a>;ExAC.Info.AC=49274;ExAC.Info.AN=126682;ExAC.Info.AF=0.389;ExAC.Info.AC_Het=29383;ExAC.Info.AC_Hom=9882;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His459His/c.1377T>C;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=ATHL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATHL1" target="_blank">ATHL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409479;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409548;SAVANT_GENE=ATHL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATHL1" target="_blank">ATHL1</a>;SAVANT_INFO=+/7.0kb/14/3.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1296T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATHL1+c.1296T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:293188">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,35:55:99:1047,0,491:127	0|0:77,0:77:99:0,231,2640:127	1|0:18,29:47:99:917,0,499:127
11	293785	.	C	T	8037.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=415;MQ=70.05;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12418165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12418165" target="_blank">rs12418165</a>;ExAC.Info.AC=27333;ExAC.Info.AN=126586;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=19980;ExAC.Info.AC_Hom=3550;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1696-45C>T;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=ATHL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATHL1" target="_blank">ATHL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409479;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000409548;SAVANT_GENE=ATHL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATHL1" target="_blank">ATHL1</a>;SAVANT_INFO=+/7.0kb/14/3.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1615-45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATHL1+c.1615-45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:293785">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,64:124:99:1836,0,1638:127	0|0:153,0:153:99:0,460,5026:127	1|0:75,63:138:99:1593,0,2145:127
11	294512	.	A	ACCCCAGGCTGTCCCTCACCCCCAGACTGCCCTCTCAC	9404.71	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=91;MQ=73.48;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs149098966;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149098966" target="_blank">rs149098966</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2101+35_2101+36insCCCCAGGCTGTCCCTCACCCCCAGACTGCCCTCTCAC;snpeff.Amino_Acid_length=764;snpeff.Gene_Name=ATHL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATHL1" target="_blank">ATHL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409479;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000409548;SAVANT_GENE=ATHL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATHL1" target="_blank">ATHL1</a>;SAVANT_INFO=+/7.0kb/14/3.7kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2021-34_2021-33insTCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATHL1+c.2021-34_2021-33insTCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:294512">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:99:1549,106,0:79	1|0:34,14:48:99:900,0,1318:79	1|1:0,18:18:80:1215,80,0:79
11	299411	.	C	G	4081.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Osteogenesis_imperfecta|_type_V|_610967_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs57285449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57285449" target="_blank">rs57285449</a>;ExAC.Info.AC=46392;ExAC.Info.AN=120400;ExAC.Info.AF=0.385;ExAC.Info.AC_Het=12604;ExAC.Info.AC_Hom=6214;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.80C>G;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=IFITM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM5" target="_blank">IFITM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382614;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gCg;snpeff.Amino_Acid_Change=p.Gly27Ala/c.80G>C;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=IFITM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM5" target="_blank">IFITM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382614;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382614;SAVANT_GENE=IFITM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM5" target="_blank">IFITM5</a>;SAVANT_INFO=-/1.3kb/2/0.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.80G>C_p.Gly27Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFITM5+c.80G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:299411">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,29:69:99:752,0,1335:127	1|0:44,25:69:99:637,0,1364:127	0|0:61,0:61:99:0,183,2290:127
11	299586	.	A	G	13667.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs56069858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56069858" target="_blank">rs56069858</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56069858" target="_blank">rs56069858</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:299586">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1459,138,0:127	1|1:0,77:77:99:2636,231,0:127	1|1:0,51:51:99:1809,153,0:127
11	308426	.	G	C	3302.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=266;MQ=68.63;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1058964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1058964" target="_blank">rs1058964</a>;ExAC.Info.AC=81003;ExAC.Info.AN=125304;ExAC.Info.AF=0.646;ExAC.Info.AC_Het=24181;ExAC.Info.AC_Hom=28312;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.234G>C;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=IFITM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM2" target="_blank">IFITM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399817;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.234G>C;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=IFITM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM2" target="_blank">IFITM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399817;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcC;snpeff.Amino_Acid_Change=p.Ala78Ala/c.234G>C;snpeff.Amino_Acid_length=132;snpeff.Gene_Name=IFITM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM2" target="_blank">IFITM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399817;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399817;SAVANT_GENE=IFITM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM2" target="_blank">IFITM2</a>;SAVANT_INFO=+/1.2kb/2/0.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.234G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFITM2+c.234G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:308426">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,258,2888:127	0|1:39,55:94:99:1670,0,1081:127	0|0:86,0:86:99:0,258,3074:127
11	314207	.	C	G	50656.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=637;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9667990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9667990" target="_blank">rs9667990</a>;ExAC.Info.AC=125249;ExAC.Info.AN=125250;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=62503;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=IFITM2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM2" target="_blank">IFITM2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37C>G;snpeff.Amino_Acid_length=125;snpeff.Gene_Name=IFITM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM2" target="_blank">IFITM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528780;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Gca;snpeff.Amino_Acid_Change=p.Pro13Ala/c.37C>G;snpeff.Amino_Acid_length=125;snpeff.Gene_Name=IFITM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM2" target="_blank">IFITM2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528780;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000408968;SAVANT_GENE=IFITM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM1" target="_blank">IFITM1</a>;SAVANT_INFO=+/1.4kb/2/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.37C>G_p.Pro13Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFITM1+c.37C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:314207">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,204:204:99:6839,615,0:127	1|1:0,237:237:99:8204,710,0:127	1|1:0,196:196:99:6546,587,0:127
11	320836	.	C	T	47283.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=771;MQ=69.96;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs34481144;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34481144" target="_blank">rs34481144</a>;ExAC.Info.AC=45901;ExAC.Info.AN=125224;ExAC.Info.AF=0.367;ExAC.Info.AC_Het=24561;ExAC.Info.AC_Hom=10456;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.94+2090C>T;snpeff.Gene_Name=RP11-326C3.11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-326C311" target="_blank">RP11-326C311</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602429;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=23;snpeff.Amino_Acid_Change=c.-23G>A;snpeff.Amino_Acid_length=133;snpeff.Gene_Name=IFITM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-326C311" target="_blank">RP11-326C311</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399808;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399808;SAVANT_GENE=IFITM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM3" target="_blank">IFITM3</a>;SAVANT_INFO=-/1.4kb/2/0.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-23G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFITM3+c.-23G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:320836">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,233:234:99:7534,693,0:127	1|1:0,283:283:99:9473,852,0:127	1|0:118,136:254:99:3724,0,3361:127
11	372095	.	T	C	1582.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72847391;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72847391" target="_blank">rs72847391</a>;ExAC.Info.AC=2436;ExAC.Info.AN=29764;ExAC.Info.AF=0.082;ExAC.Info.AC_Het=1960;ExAC.Info.AC_Hom=167;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.152-14T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.152-14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.152-14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:372095">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1726:110	0|1:42,25:67:99:808,0,1243:110	0|0:37,0:37:99:0,111,1389:110
11	372157	.	C	T	2808.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34063493;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34063493" target="_blank">rs34063493</a>;ExAC.Info.AC=8231;ExAC.Info.AN=30384;ExAC.Info.AF=0.271;ExAC.Info.AC_Het=4824;ExAC.Info.AC_Hom=1308;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala67Val/c.200C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.200C>T_p.Ala67Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.200C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:372157">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,282,3278:127	0|0:134,0:134:99:0,403,4690:127	0|1:27,48:75:99:1423,0,718:127
11	372225	.	C	T	5134.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs79491678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79491678" target="_blank">rs79491678</a>;ExAC.Info.AC=2503;ExAC.Info.AN=34182;ExAC.Info.AF=0.073;ExAC.Info.AC_Het=1981;ExAC.Info.AC_Hom=166;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.255+13C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.256C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.255+13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.255+13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:372225">View</a>	GT:AD:DP:GQ:PL:TP	0|0:124,0:124:99:0,372,4194:127	0|1:88,91:179:99:2586,0,2521:127	0|0:112,0:112:99:0,337,4093:127
11	372700	.	G	C	1994.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs35475866;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35475866" target="_blank">rs35475866</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=36706;ExAC.Info.AN=123990;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=24742;ExAC.Info.AC_Hom=5274;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggC;snpeff.Amino_Acid_Change=p.Gly98Gly/c.294G>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.294G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.294G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:372700">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,399,4165:127	0|0:130,0:130:99:0,390,4182:127	0|1:67,46:113:99:1016,0,1794:127
11	372784	.	G	A	2679.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs55794317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55794317" target="_blank">rs55794317</a>;ExAC.Info.AC=4631;ExAC.Info.AN=117674;ExAC.Info.AF=0.039;ExAC.Info.AC_Het=3206;ExAC.Info.AC_Hom=93;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.348+30G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.348+30G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.348+30G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:372784">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,11:27:99:330,0,575:93	0|0:31,0:31:93:0,93,1293:93	1|0:9,23:32:99:774,0,265:93
11	373317	.	G	T	1628.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72847393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72847393" target="_blank">rs72847393</a>;ExAC.Info.AC=14979;ExAC.Info.AN=124628;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=12534;ExAC.Info.AC_Hom=1091;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.636+26G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637G>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.636+26G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.636+26G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:373317">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1819:127	0|1:38,30:68:99:833,0,1110:127	0|0:52,0:52:99:0,156,1788:127
11	373408	.	AC	A	1659.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=45;MQ=70.06;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs376849299;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=376849299" target="_blank">rs376849299</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.637-40delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637delC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.637-30delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.637-30delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:373408">View</a>	GT:AD:DP:GQ:PL:TP	0/1:4,16:20:55:340,0,55:54	0/1:5,13:18:65:256,0,65:54	0/1:1,6:7:68:114,0,68:54
11	373427	.	C	T	530.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=98;MQ=70.04;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7395781;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7395781" target="_blank">rs7395781</a>;ExAC.Info.AC=9699;ExAC.Info.AN=106018;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=7941;ExAC.Info.AC_Hom=690;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.637-22C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.637C>T;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.637-22C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.637-22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:373427">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1401:101	0|0:38,0:38:99:0,114,1568:101	0|1:16,10:26:99:284,0,588:101
11	375804	.	G	A	2006.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61876283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61876283" target="_blank">rs61876283</a>;ExAC.Info.AC=13806;ExAC.Info.AN=123210;ExAC.Info.AF=0.112;ExAC.Info.AC_Het=10646;ExAC.Info.AC_Hom=912;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.985+31G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.986G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.985+31G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.985+31G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:375804">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2254:127	0|1:38,37:75:99:1022,0,1160:127	0|0:68,0:68:99:0,204,2405:127
11	376065	.	A	C	563.52	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=376;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1096-9A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1096A>C;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1096-9A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.1096-9A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:376065">View</a>	GT:AD:DP:GQ:PL:TP	0|1:88,30:118:53:53,0,1858:6	1|0:97,34:131:25:25,0,1776:6	0|0:97,30:127:6:0,6,1835:6
11	379598	.	A	G	4702.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1134699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1134699" target="_blank">rs1134699</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=44260;ExAC.Info.AN=116966;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=19492;ExAC.Info.AC_Hom=6438;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu795Glu/c.2385A>G;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2385A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.2385A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:379598">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,187,1999:127	0|1:52,38:90:99:1187,0,1536:127	0|1:29,35:64:99:1184,0,796:127
11	379841	.	G	GCC	2051.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs144602584;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144602584" target="_blank">rs144602584</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2489-24_2489-23insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2489_2490insCC;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2489-18_2489-17dupCC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.2489-18_2489-17dupCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:379841">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,229,3027:127	0|1:46,35:81:99:1049,0,1564:127	0|0:92,0:92:99:0,277,3628:127
11	380242	.	G	A	5098.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=532;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs111471551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111471551" target="_blank">rs111471551</a>;ExAC.Info.AC=9266;ExAC.Info.AN=125942;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=8012;ExAC.Info.AC_Hom=516;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2715+40G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2716G>A;snpeff.Amino_Acid_length=1039;snpeff.Gene_Name=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329962;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329962;SAVANT_GENE=B4GALNT4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=B4GALNT4" target="_blank">B4GALNT4</a>;SAVANT_INFO=+/12.3kb/20/3.4kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2715+40G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=B4GALNT4+c.2715+40G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:380242">View</a>	GT:AD:DP:GQ:PL:TP	0|0:151,2:153:99:0,387,5595:127	0|1:120,89:209:99:2586,0,3773:127	0|0:170,0:170:99:0,510,6090:127
11	396701	.	C	T	6547.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11246147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246147" target="_blank">rs11246147</a>;ExAC.Info.AC=63936;ExAC.Info.AN=124536;ExAC.Info.AF=0.513;ExAC.Info.AC_Het=29433;ExAC.Info.AC_Hom=16035;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.312+14C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331563;SAVANT_GENE=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;SAVANT_INFO=+/10.7kb/13/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.312+14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP3+c.312+14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:396701">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,21:21:63:755,63,0:63	1|0:34,20:54:99:516,0,1017:63	1|0:20,14:34:99:338,0,543:63
11	396915	.	C	T	7260.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12419281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12419281" target="_blank">rs12419281</a>;ExAC.Info.AC=61178;ExAC.Info.AN=121932;ExAC.Info.AF=0.502;ExAC.Info.AC_Het=24029;ExAC.Info.AC_Hom=12966;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn138Asn/c.414C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331563;SAVANT_GENE=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;SAVANT_INFO=+/10.7kb/13/2.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.414C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP3+c.414C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:396915">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1581,129,0:127	1|0:17,27:44:99:844,0,522:127	1|0:25,16:41:99:422,0,795:127
11	400109	.	A	G	3062.8	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=43;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs8858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8858" target="_blank">rs8858</a>;ExAC.Info.AC=96193;ExAC.Info.AN=123094;ExAC.Info.AF=0.781;ExAC.Info.AC_Het=16877;ExAC.Info.AC_Hom=33762;snpeff.Effect=sequence_feature[repeat:ARM_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1416A>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1416A>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala472Ala/c.1416A>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331563;SAVANT_GENE=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;SAVANT_INFO=+/10.7kb/13/2.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1416A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP3+c.1416A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:400109">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,6:6:18:236,18,0:18	1|0:5,16:21:99:533,0,138:18	1|1:0,16:16:48:594,48,0:18
11	403725	.	C	T	10628.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72848723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72848723" target="_blank">rs72848723</a>;ExAC.Info.AC=1718;ExAC.Info.AN=124114;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1674;ExAC.Info.AC_Hom=22;snpeff.Effect=sequence_feature[repeat:ARM_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2031C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly677Gly/c.2031C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331563;SAVANT_GENE=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;SAVANT_INFO=+/10.7kb/13/2.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.2031C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP3+c.2031C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:403725">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,70:126:99:1828,0,1651:127	0|0:199,0:199:99:0,598,6899:127	1|0:57,74:131:99:1983,0,1674:127
11	403939	.	A	G	11217.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7479832;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7479832" target="_blank">rs7479832</a>;ExAC.Info.AC=102498;ExAC.Info.AN=123174;ExAC.Info.AF=0.832;ExAC.Info.AC_Het=14610;ExAC.Info.AC_Hom=40347;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2078-4A>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2078A>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2078A>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2078A>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331563;SAVANT_GENE=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;SAVANT_INFO=+/10.7kb/13/2.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.2078-4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP3+c.2078-4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:403939">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1771,144,0:125	1|1:0,47:47:99:1746,141,0:125	1|1:0,42:42:99:1503,126,0:125
11	403980	.	G	A	14553.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs11748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11748" target="_blank">rs11748</a>;ExAC.Info.AC=68171;ExAC.Info.AN=123528;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=29495;ExAC.Info.AC_Hom=18963;snpeff.Effect=sequence_feature[repeat:ARM_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2115G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ARM_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2115G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro705Pro/c.2115G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331563;SAVANT_GENE=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;SAVANT_INFO=+/10.7kb/13/2.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2115G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP3+c.2115G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:403980">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2588,216,0:127	1|1:0,63:63:99:2386,190,0:127	1|0:22,39:61:99:1182,0,607:127
11	404317	.	C	T	16372.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1134578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1134578" target="_blank">rs1134578</a>;ExAC.Info.AC=66152;ExAC.Info.AN=123864;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=29681;ExAC.Info.AC_Hom=18169;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe784Phe/c.2352C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331563;SAVANT_GENE=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;SAVANT_INFO=+/10.7kb/13/2.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2352C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP3+c.2352C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:404317">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2468,237,0:127	1|1:0,102:102:99:3271,306,0:127	1|0:31,31:62:99:828,0,952:127
11	404468	.	G	A	1632.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11246148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246148" target="_blank">rs11246148</a>;ExAC.Info.AC=29585;ExAC.Info.AN=124050;ExAC.Info.AF=0.238;ExAC.Info.AC_Het=20524;ExAC.Info.AC_Hom=4476;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2359-66G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331563;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331563;SAVANT_GENE=PKP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP3" target="_blank">PKP3</a>;SAVANT_INFO=+/10.7kb/13/2.8kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2359-66G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PKP3+c.2359-66G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:404468">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1908:127	0|0:68,0:68:99:0,204,2547:127	0|1:31,31:62:99:835,0,943:127
11	406043	.	G	A	14854.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7947" target="_blank">rs7947</a>;ExAC.Info.AC=100093;ExAC.Info.AN=122934;ExAC.Info.AF=0.814;ExAC.Info.AC_Het=11475;ExAC.Info.AC_Hom=29108;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Ttt;snpeff.Amino_Acid_Change=p.Leu459Phe/c.1375C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=SIGIRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIGIRR" target="_blank">SIGIRR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531205;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431843;SAVANT_GENE=SIGIRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIGIRR" target="_blank">SIGIRR</a>;SAVANT_INFO=-/9.3kb/10/1.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1086C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIGIRR+c.1086C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:406043">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1836,171,0:127	1|1:0,60:60:99:2038,180,0:127	1|1:0,62:62:99:2319,187,0:127
11	406473	.	A	C	23256.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3087588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3087588" target="_blank">rs3087588</a>;ExAC.Info.AC=103377;ExAC.Info.AN=124760;ExAC.Info.AF=0.829;ExAC.Info.AC_Het=16107;ExAC.Info.AC_Hom=43155;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccG;snpeff.Amino_Acid_Change=p.Pro315Pro/c.945T>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=SIGIRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIGIRR" target="_blank">SIGIRR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531205;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431843;SAVANT_GENE=SIGIRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIGIRR" target="_blank">SIGIRR</a>;SAVANT_INFO=-/9.3kb/10/1.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.945T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIGIRR+c.945T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:406473">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:2219,150,0:127	1|1:0,80:80:99:3584,253,0:127	1|1:0,61:61:99:2656,187,0:127
11	406483	.	T	C	21914.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3210908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3210908" target="_blank">rs3210908</a>;ExAC.Info.AC=103973;ExAC.Info.AN=124720;ExAC.Info.AF=0.834;ExAC.Info.AC_Het=15593;ExAC.Info.AC_Hom=43669;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln312Arg/c.935A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=SIGIRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIGIRR" target="_blank">SIGIRR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531205;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431843;SAVANT_GENE=SIGIRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIGIRR" target="_blank">SIGIRR</a>;SAVANT_INFO=-/9.3kb/10/1.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.935A>G_p.Gln312Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIGIRR+c.935A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:406483">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:2175,147,0:127	1|1:0,72:72:99:3291,226,0:127	1|1:0,57:57:99:2563,175,0:127
11	409815	.	G	A	2058.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4074794;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4074794" target="_blank">rs4074794</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7+53C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=SIGIRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIGIRR" target="_blank">SIGIRR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531205;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000431843;SAVANT_GENE=SIGIRR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SIGIRR" target="_blank">SIGIRR</a>;SAVANT_INFO=-/9.3kb/10/1.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.7+53C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SIGIRR+c.7+53C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:409815">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2506:127	0|0:90,0:90:99:0,270,3046:127	0|1:49,35:84:99:1048,0,1472:127
11	428385	.	A	G	10523.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10794323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794323" target="_blank">rs10794323</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=103627;ExAC.Info.AN=124392;ExAC.Info.AF=0.833;ExAC.Info.AC_Het=15511;ExAC.Info.AC_Hom=43547;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1195A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1195A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1195A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys399Arg/c.1195T>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332826;SAVANT_GENE=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;SAVANT_INFO=-/23.8kb/23/2.5kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1195T>C_p.Cys399Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO9+c.1195T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:428385">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1708,138,0:69	1|1:0,48:48:99:1687,144,0:69	1|1:0,23:23:69:883,69,0:69
11	428489	.	T	C	11794.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10794324;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794324" target="_blank">rs10794324</a>;ExAC.Info.AC=101747;ExAC.Info.AN=124288;ExAC.Info.AF=0.819;ExAC.Info.AC_Het=16491;ExAC.Info.AC_Hom=42006;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1171T>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile391Val/c.1171A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332826;SAVANT_GENE=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;SAVANT_INFO=-/23.8kb/23/2.5kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1171A>G_p.Ile391Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO9+c.1171A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:428489">View</a>	GT:AD:DP:GQ:PL:TP	1|0:64,46:110:99:1319,0,1728:127	0|1:56,50:106:99:1437,0,1590:127	1|1:0,80:80:99:2674,240,0:127
11	429659	.	C	T	11452.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7111432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7111432" target="_blank">rs7111432</a>;ExAC.Info.AC=69308;ExAC.Info.AN=124196;ExAC.Info.AF=0.558;ExAC.Info.AC_Het=29479;ExAC.Info.AC_Hom=19566;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.833-7G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.833C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.833C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.833G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332826;SAVANT_GENE=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;SAVANT_INFO=-/23.8kb/23/2.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.833-7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO9+c.833-7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:429659">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,46:91:99:1241,0,1379:127	1|1:0,102:102:99:3493,306,0:127	0|0:81,0:81:99:0,243,2851:127
11	430456	.	A	G	1309.46	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=35;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11603743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11603743" target="_blank">rs11603743</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.540-53T>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.540A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332826;SAVANT_GENE=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;SAVANT_INFO=-/23.8kb/23/2.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.540-53T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO9+c.540-53T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:430456">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,6:19:99:150,0,418:21	1|1:0,8:8:24:333,24,0:21	0|0:8,0:8:24:0,24,284:21
11	431834	.	A	G	15983.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs55914928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55914928" target="_blank">rs55914928</a>;ExAC.Info.AC=106179;ExAC.Info.AN=126092;ExAC.Info.AF=0.842;ExAC.Info.AC_Het=14998;ExAC.Info.AC_Hom=44466;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.465+14T>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332826;SAVANT_GENE=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;SAVANT_INFO=-/23.8kb/23/2.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.465+14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO9+c.465+14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:431834">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,54:55:99:1836,154,0:127	1|1:0,61:61:99:2114,183,0:127	1|1:0,66:66:99:2283,198,0:127
11	433387	.	A	G	27019.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7395065;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7395065" target="_blank">rs7395065</a>;ExAC.Info.AC=126439;ExAC.Info.AN=126444;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=62460;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.277A>G;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe93Leu/c.277T>C;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332826;SAVANT_GENE=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;SAVANT_INFO=-/23.8kb/23/2.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.277T>C_p.Phe93Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO9+c.277T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:433387">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3149,282,0:127	1|1:0,109:109:99:3755,327,0:127	1|1:0,101:101:99:3207,303,0:127
11	433867	.	G	A	3620.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12575508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12575508" target="_blank">rs12575508</a>;ExAC.Info.AC=16224;ExAC.Info.AN=116896;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=6307;ExAC.Info.AC_Hom=768;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala51Val/c.152C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332826;SAVANT_GENE=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;SAVANT_INFO=-/23.8kb/23/2.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.152C>T_p.Ala51Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO9+c.152C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:433867">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,315,3361:127	0|1:54,68:122:99:1829,0,1494:127	0|0:103,0:103:99:0,309,3269:127
11	433965	.	G	A	2154.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7396778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7396778" target="_blank">rs7396778</a>;ExAC.Info.AC=13688;ExAC.Info.AN=106376;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=4586;ExAC.Info.AC_Hom=595;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.82-28C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332826;SAVANT_GENE=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;SAVANT_INFO=-/23.8kb/23/2.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.82-28C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO9+c.82-28C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:433965">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1609:127	0|1:27,35:62:99:1096,0,803:127	0|0:61,0:61:99:0,183,2285:127
11	433995	.	G	A	6234.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7396776;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7396776" target="_blank">rs7396776</a>;ExAC.Info.AC=44913;ExAC.Info.AN=89210;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=5609;ExAC.Info.AC_Hom=4628;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.81+29C>T;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.82G>A;snpeff.Amino_Acid_length=782;snpeff.Gene_Name=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332826;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332826;SAVANT_GENE=ANO9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO9" target="_blank">ANO9</a>;SAVANT_INFO=-/23.8kb/23/2.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.81+29C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO9+c.81+29C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:433995">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,25:44:99:790,0,533:127	1|1:0,51:51:99:1815,153,0:127	0|0:56,0:56:99:0,168,2050:127
11	486843	.	A	G	1266.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=68;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs56352613;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56352613" target="_blank">rs56352613</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.436-96A>G;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308020;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.436A>G;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308020;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.436A>G;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308020;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308020;SAVANT_GENE=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;SAVANT_INFO=+/41.1kb/12/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.436-96A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTDSS2+c.436-96A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:486843">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,925:55	0|1:13,16:29:99:652,0,460:55	0|0:19,0:19:57:0,57,832:55
11	486855	.	T	A	1186.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs55961417;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55961417" target="_blank">rs55961417</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.436-84T>A;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308020;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.436T>A;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308020;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.436T>A;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308020;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308020;SAVANT_GENE=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;SAVANT_INFO=+/41.1kb/12/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.436-84T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTDSS2+c.436-84T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:486855">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,994:89	0|1:26,22:48:99:612,0,712:89	0|0:37,1:38:99:0,104,1232:89
11	486874	.	T	C	1863.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs55830538;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55830538" target="_blank">rs55830538</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.436-65T>C;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308020;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.436T>C;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308020;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.436T>C;snpeff.Amino_Acid_length=487;snpeff.Gene_Name=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308020;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308020;SAVANT_GENE=PTDSS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTDSS2" target="_blank">PTDSS2</a>;SAVANT_INFO=+/41.1kb/12/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.436-65T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTDSS2+c.436-65T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:486874">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1593:127	0|1:38,36:74:99:950,0,1050:127	0|0:49,0:49:99:0,146,1652:127
11	494942	.	G	C	1314.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7983" target="_blank">rs7983</a>;ExAC.Info.AC=37679;ExAC.Info.AN=125978;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=23066;ExAC.Info.AC_Hom=5196;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcG;snpeff.Amino_Acid_Change=p.Ala413Ala/c.1239C>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=RNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNH1" target="_blank">RNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533410;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534797;SAVANT_GENE=RNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNH1" target="_blank">RNH1</a>;SAVANT_INFO=-/9.1kb/9/3.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1239C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNH1+c.1239C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:494942">View</a>	GT:AD:DP:GQ:PL:TP	0|0:61,0:61:99:0,183,1923:127	0|1:32,25:57:99:676,0,833:127	0|0:67,0:67:99:0,201,2126:127
11	499059	.	C	T	1968.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17584;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17584" target="_blank">rs17584</a>;ExAC.Info.AC=23758;ExAC.Info.AN=126490;ExAC.Info.AF=0.188;ExAC.Info.AC_Het=18659;ExAC.Info.AC_Hom=2416;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu190Leu/c.570G>A;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=RNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNH1" target="_blank">RNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533410;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534797;SAVANT_GENE=RNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNH1" target="_blank">RNH1</a>;SAVANT_INFO=-/9.1kb/9/3.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.570G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNH1+c.570G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:499059">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,256,3133:127	0|1:46,37:83:99:1003,0,1389:127	0|0:50,0:50:99:0,150,1902:127
11	499547	.	A	C	1010.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61876345;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61876345" target="_blank">rs61876345</a>;ExAC.Info.AC=4936;ExAC.Info.AN=31900;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=2488;ExAC.Info.AC_Hom=525;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.443+282T>G;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=RNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNH1" target="_blank">RNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533410;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534797;SAVANT_GENE=RNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNH1" target="_blank">RNH1</a>;SAVANT_INFO=-/9.1kb/9/3.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.443+282T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNH1+c.443+282T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:499547">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1542:110	0|1:27,19:46:99:524,0,868:110	0|0:37,0:37:99:0,111,1328:110
11	499583	.	G	A	1342.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61876346;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61876346" target="_blank">rs61876346</a>;ExAC.Info.AC=5848;ExAC.Info.AN=52620;ExAC.Info.AF=0.111;ExAC.Info.AC_Het=2387;ExAC.Info.AC_Hom=422;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.443+246C>T;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=RNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNH1" target="_blank">RNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533410;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534797;SAVANT_GENE=RNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNH1" target="_blank">RNH1</a>;SAVANT_INFO=-/9.1kb/9/3.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.443+246C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNH1+c.443+246C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:499583">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1847:89	0|1:25,24:49:99:690,0,839:89	0|0:30,0:30:90:0,90,1153:89
11	502217	.	C	T	2124.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7944548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7944548" target="_blank">rs7944548</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-19-36G>A;snpeff.Amino_Acid_length=461;snpeff.Gene_Name=RNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNH1" target="_blank">RNH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533410;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534797;SAVANT_GENE=RNH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNH1" target="_blank">RNH1</a>;SAVANT_INFO=-/9.1kb/9/3.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-55G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNH1+c.-55G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:502217">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,1902:127	0|1:39,39:78:99:1081,0,1114:127	0|0:52,0:52:99:0,156,1818:127
11	534242	.	A	G	5848.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=704;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12628;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12628" target="_blank">rs12628</a>;cosmic68.Histology_subtype=NS;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Bladder_cancer|_association_with;hgmd_2014.2.OMIM_ID=190020;hgmd_2014.2.PubMed=12540507;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12540507" target="_blank">12540507</a>;ExAC.Info.AC=39367;ExAC.Info.AN=126568;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=26371;ExAC.Info.AC_Hom=6354;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000038468;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His27His/c.81T>C;snpeff.Amino_Acid_length=189;snpeff.Gene_Name=HRAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRAS" target="_blank">HRAS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000451590;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311189;SAVANT_GENE=HRAS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HRAS" target="_blank">HRAS</a>;SAVANT_INFO=-/3.2kb/6/0.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.81T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HRAS+c.81T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:534242">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000038468" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:216,0:216:99:0,648,6887:127	0|1:136,99:235:99:2942,0,3886:127	0|0:253,0:253:99:0,760,8427:127
11	541462	.	C	T	4272.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72841219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72841219" target="_blank">rs72841219</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.178-75C>T;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.178-75C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.178-75C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:541462">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,29:51:99:808,0,643:127	0|0:74,0:74:99:0,222,2476:127	1|0:19,18:37:99:514,0,572:127
11	541601	.	G	C	4010.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=294;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs116866926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=116866926" target="_blank">rs116866926</a>;ExAC.Info.AC=1831;ExAC.Info.AN=126628;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1781;ExAC.Info.AC_Hom=18;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cCt;snpeff.Amino_Acid_Change=p.Arg81Pro/c.242G>C;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.242G>C_p.Arg81Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.242G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:541601">View</a>	GT:AD:DP:GQ:PL:TP	0|0:85,0:85:99:0,255,3032:127	0|1:57,62:119:99:2024,0,1699:127	0|0:90,0:90:99:0,270,3269:127
11	541639	.	A	C	72.16	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=368;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs201784879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201784879" target="_blank">rs201784879</a>;ExAC.Info.AC=8214;ExAC.Info.AN=126340;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=8049;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.265+15A>C;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.265+15A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.265+15A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:541639">View</a>	GT:AD:DP:GQ:PL:TP	0|1:75,37:112:99:105,0,1667:55	1|0:110,37:147:0:0,24,2898:55	0|0:89,20:109:99:0,118,2377:55
11	549959	.	C	T	14825.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7942030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7942030" target="_blank">rs7942030</a>;ExAC.Info.AC=102076;ExAC.Info.AN=125980;ExAC.Info.AF=0.810;ExAC.Info.AC_Het=18252;ExAC.Info.AC_Hom=41240;snpeff.Effect=sequence_feature[repeat:LRR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.384C>T;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu128Leu/c.384C>T;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.384C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.384C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:549959">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2100,192,0:127	1|0:43,41:84:99:1075,0,1247:127	1|1:0,68:68:99:2412,204,0:127
11	550028	.	C	G	24375.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11246180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246180" target="_blank">rs11246180</a>;ExAC.Info.AC=110388;ExAC.Info.AN=126068;ExAC.Info.AF=0.876;ExAC.Info.AC_Het=12942;ExAC.Info.AC_Hom=47919;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.423+30C>G;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.424C>G;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.424C>G;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.423+30C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.423+30C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:550028">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2883,246,0:127	1|1:0,98:98:99:3532,294,0:127	1|1:0,88:88:99:3133,264,0:127
11	551235	.	G	A	1396.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35537971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35537971" target="_blank">rs35537971</a>;ExAC.Info.AC=6376;ExAC.Info.AN=76384;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=2500;ExAC.Info.AC_Hom=269;snpeff.Effect=sequence_feature[domain:LRRCT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729G>A;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LRRCT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729G>A;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro243Pro/c.729G>A;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.729G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.729G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:551235">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,1:71:99:0,174,2268:127	0|1:30,28:58:99:717,0,880:127	0|0:55,0:55:99:0,165,1759:127
11	551405	.	G	A	13430.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=168;MQ=69.91;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7396875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7396875" target="_blank">rs7396875</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.796+103G>A;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.796+103G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.796+103G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:551405">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1573,144,0:116	1|1:0,81:81:99:2701,243,0:116	1|1:0,39:39:99:1318,117,0:116
11	551753	.	G	A	26484.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=384;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4963198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4963198" target="_blank">rs4963198</a>;ExAC.Info.AC=81588;ExAC.Info.AN=125210;ExAC.Info.AF=0.652;ExAC.Info.AC_Het=26558;ExAC.Info.AC_Hom=26419;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg300His/c.899G>A;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.899G>A_p.Arg300His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.899G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:551753">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,108:108:99:3639,324,0:127	1|0:67,89:156:99:2614,0,2006:127	1|1:0,120:120:99:4047,360,0:127
11	552756	.	T	C	6473.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12361381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12361381" target="_blank">rs12361381</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1315+54T>C;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1315+54T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.1315+54T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:552756">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:844,72,0:47	1|1:0,16:16:48:555,48,0:47	1|1:0,29:29:87:974,87,0:47
11	552787	.	T	C	6545.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=53;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12361383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12361383" target="_blank">rs12361383</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1315+85T>C;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1315+85T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.1315+85T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:552787">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:855,57,0:35	1|1:0,12:12:36:471,36,0:35	1|1:0,22:22:66:990,66,0:35
11	552788	.	G	C	4666.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=53;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs11246182;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246182" target="_blank">rs11246182</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1315+86G>C;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1315+86G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.1315+86G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:552788">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:57:653,57,0:56	1|0:6,6:12:99:186,0,178:56	1|1:0,22:22:66:736,66,0:56
11	554047	.	G	A	1962.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12793222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12793222" target="_blank">rs12793222</a>;ExAC.Info.AC=22439;ExAC.Info.AN=125732;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=17645;ExAC.Info.AC_Hom=2275;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg467Gln/c.1400G>A;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1400G>A_p.Arg467Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.1400G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:554047">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,1991:110	0|1:20,32:52:99:1000,0,459:110	0|0:37,0:37:99:0,111,1231:110
11	554166	.	C	G	6724.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10902170;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902170" target="_blank">rs10902170</a>;ExAC.Info.AC=101642;ExAC.Info.AN=124956;ExAC.Info.AF=0.813;ExAC.Info.AC_Het=17495;ExAC.Info.AC_Hom=40284;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Ggc;snpeff.Amino_Acid_Change=p.Arg507Gly/c.1519C>G;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1519C>G_p.Arg507Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.1519C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:554166">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:840,69,0:59	1|1:0,34:34:99:1233,102,0:59	1|1:0,20:20:60:724,60,0:59
11	554214	.	G	C	8328.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=94;MQ=69.91;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10902171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902171" target="_blank">rs10902171</a>;ExAC.Info.AC=100512;ExAC.Info.AN=124338;ExAC.Info.AF=0.808;ExAC.Info.AC_Het=16553;ExAC.Info.AC_Hom=38222;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Cat;snpeff.Amino_Acid_Change=p.Asp523His/c.1567G>C;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1567G>C_p.Asp523His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.1567G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:554214">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,22:22:66:780,66,0:92	1|1:0,41:41:99:1507,123,0:92	1|1:0,31:31:93:1150,93,0:92
11	554299	.	C	G	8306.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10902172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902172" target="_blank">rs10902172</a>;ExAC.Info.AC=105604;ExAC.Info.AN=115936;ExAC.Info.AF=0.911;ExAC.Info.AC_Het=7633;ExAC.Info.AC_Hom=45096;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=23;snpeff.Amino_Acid_Change=c.*23C>G;snpeff.Amino_Acid_length=542;snpeff.Gene_Name=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000270115;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000270115;SAVANT_GENE=LRRC56;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC56" target="_blank">LRRC56</a>;SAVANT_INFO=+/17.4kb/14/2.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*23C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC56+c.*23C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:554299">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1063,96,0:95	1|1:0,37:37:99:1274,111,0:95	1|1:0,32:32:96:1159,96,0:95
11	555298	.	C	G	891.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=68;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs138037086;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138037086" target="_blank">rs138037086</a>;ExAC.Info.AC=1112;ExAC.Info.AN=118448;ExAC.Info.AF=9.388e-03;ExAC.Info.AC_Het=668;ExAC.Info.AC_Hom=5;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1773+7G>C;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1774G>C;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329451;SAVANT_GENE=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;SAVANT_INFO=-/5.9kb/14/2.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1773+7G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf35+c.1773+7G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:555298">View</a>	GT:AD:DP:GQ:PL:TP	0|0:23,0:23:69:0,69,815:65	0|1:7,15:22:99:464,0,165:65	0|0:23,0:23:69:0,69,750:65
11	556121	.	G	A	5103.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=52;MQ=69.81;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs936467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=936467" target="_blank">rs936467</a>;ExAC.Info.AC=105166;ExAC.Info.AN=106808;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=531;ExAC.Info.AC_Hom=26528;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1258-6C>T;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1258C>T;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329451;SAVANT_GENE=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;SAVANT_INFO=-/5.9kb/14/2.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1258-6C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf35+c.1258-6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:556121">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,18:18:54:692,54,0:35	1|1:0,22:22:66:806,66,0:35	1|1:0,12:12:36:437,36,0:35
11	556457	.	T	C	14354.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28407128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28407128" target="_blank">rs28407128</a>;ExAC.Info.AC=43181;ExAC.Info.AN=50770;ExAC.Info.AF=0.851;ExAC.Info.AC_Het=1871;ExAC.Info.AC_Hom=8138;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1073+35A>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329451;SAVANT_GENE=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;SAVANT_INFO=-/5.9kb/14/2.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1073+35A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf35+c.1073+35A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:556457">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1513,114,0:127	1|1:0,53:53:99:1972,159,0:127	1|1:0,58:58:99:2242,174,0:127
11	556521	.	C	G	21377.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28406183;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28406183" target="_blank">rs28406183</a>;ExAC.Info.AC=95972;ExAC.Info.AN=109326;ExAC.Info.AF=0.878;ExAC.Info.AC_Het=2947;ExAC.Info.AC_Hom=13357;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccC;snpeff.Amino_Acid_Change=p.Pro348Pro/c.1044G>C;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329451;SAVANT_GENE=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;SAVANT_INFO=-/5.9kb/14/2.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1044G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf35+c.1044G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:556521">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2544,222,0:127	1|1:0,89:89:99:2980,267,0:127	1|1:0,91:91:99:3174,274,0:127
11	556857	.	G	C	11768.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7938269;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7938269" target="_blank">rs7938269</a>;ExAC.Info.AC=111226;ExAC.Info.AN=122504;ExAC.Info.AF=0.908;ExAC.Info.AC_Het=6219;ExAC.Info.AC_Hom=37456;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggG;snpeff.Amino_Acid_Change=p.Gly318Gly/c.954C>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329451;SAVANT_GENE=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;SAVANT_INFO=-/5.9kb/14/2.1kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.954C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf35+c.954C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:556857">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1626,144,0:119	1|1:0,40:40:99:1451,120,0:119	1|1:0,48:48:99:1631,144,0:119
11	557342	.	T	C	13161.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs936466;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=936466" target="_blank">rs936466</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.713+57A>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329451;SAVANT_GENE=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;SAVANT_INFO=-/5.9kb/14/2.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.713+57A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf35+c.713+57A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:557342">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1266,102,0:114	1|1:0,62:62:99:2211,186,0:114	1|1:0,38:38:99:1317,114,0:114
11	557989	.	C	T	11608.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7129811;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7129811" target="_blank">rs7129811</a>;ExAC.Info.AC=68315;ExAC.Info.AN=125226;ExAC.Info.AF=0.546;ExAC.Info.AC_Het=27834;ExAC.Info.AC_Hom=18943;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.395C>T;snpeff.Gene_Name=RP11-496I9.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527620;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450C>T;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.450C>T;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln150Gln/c.450G>A;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329451;SAVANT_GENE=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;SAVANT_INFO=-/5.9kb/14/2.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.450G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf35+c.450G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:557989">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1715,159,0:110	1|0:29,38:67:99:1198,0,727:110	1|1:0,37:37:99:1194,111,0:110
11	558165	.	T	G	3390.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs79820513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79820513" target="_blank">rs79820513</a>;ExAC.Info.AC=7729;ExAC.Info.AN=126386;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=7118;ExAC.Info.AC_Hom=280;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.571T>G;snpeff.Gene_Name=RP11-496I9.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527620;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.395T>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.395T>G;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cCg;snpeff.Amino_Acid_Change=p.Gln132Pro/c.395A>C;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329451;SAVANT_GENE=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;SAVANT_INFO=-/5.9kb/14/2.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.395A>C_p.Gln132Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf35+c.395A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:558165">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,267,3039:127	0|1:51,62:113:99:1714,0,1525:127	0|0:86,0:86:99:0,258,3012:127
11	558884	.	C	T	17969.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2061586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2061586" target="_blank">rs2061586</a>;ExAC.Info.AC=101383;ExAC.Info.AN=125658;ExAC.Info.AF=0.807;ExAC.Info.AC_Het=18290;ExAC.Info.AC_Hom=40647;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1290C>T;snpeff.Gene_Name=RP11-496I9.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527620;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala44Thr/c.130G>A;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329451;SAVANT_GENE=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;SAVANT_INFO=-/5.9kb/14/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.130G>A_p.Ala44Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf35+c.130G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:558884">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2149,195,0:127	1|1:0,80:80:99:2774,240,0:127	1|1:0,80:80:99:2750,240,0:127
11	559016	.	C	T	28122.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3943356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3943356" target="_blank">rs3943356</a>;ExAC.Info.AC=101121;ExAC.Info.AN=125356;ExAC.Info.AF=0.807;ExAC.Info.AC_Het=18056;ExAC.Info.AC_Hom=40245;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1422C>T;snpeff.Gene_Name=RP11-496I9.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527620;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.35-37G>A;snpeff.Amino_Acid_length=634;snpeff.Gene_Name=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-496I91" target="_blank">RP11-496I91</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329451;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329451;SAVANT_GENE=C11orf35;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf35" target="_blank">C11orf35</a>;SAVANT_INFO=-/5.9kb/14/2.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.35-37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf35+c.35-37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:559016">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:2969,279,0:127	1|1:0,125:125:99:4099,375,0:127	1|1:0,115:115:99:3836,346,0:127
11	562437	.	G	A	1768.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11246189;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246189" target="_blank">rs11246189</a>;ExAC.Info.AC=12119;ExAC.Info.AN=101366;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=3235;ExAC.Info.AC_Hom=363;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg161Arg/c.483G>A;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=RASSF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF7" target="_blank">RASSF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344375;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397583;SAVANT_GENE=RASSF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF7" target="_blank">RASSF7</a>;SAVANT_INFO=+/3.0kb/6/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.483G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASSF7+c.483G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:562437">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,1388:116	0|1:21,29:50:99:903,0,627:116	0|0:41,0:41:99:0,123,1464:116
11	587425	.	C	A	1418.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=100;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12800061;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12800061" target="_blank">rs12800061</a>;ExAC.Info.AC=23964;ExAC.Info.AN=125356;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=18694;ExAC.Info.AC_Hom=2598;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381C>A;snpeff.Amino_Acid_length=1649;snpeff.Gene_Name=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264555;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:RING-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.381C>A;snpeff.Amino_Acid_length=1649;snpeff.Gene_Name=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264555;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcA;snpeff.Amino_Acid_Change=p.Ala127Ala/c.381C>A;snpeff.Amino_Acid_length=1649;snpeff.Gene_Name=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264555;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000416188;SAVANT_GENE=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;SAVANT_INFO=+/35.4kb/18/5.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.381C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHRF1+c.381C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:587425">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1128:77	0|1:16,26:42:99:728,0,512:77	0|0:26,0:26:78:0,78,915:77
11	606656	.	G	C	10332.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs936470;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=936470" target="_blank">rs936470</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1609+60G>C;snpeff.Amino_Acid_length=1649;snpeff.Gene_Name=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264555;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000416188;SAVANT_GENE=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;SAVANT_INFO=+/35.4kb/18/5.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1606+60G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHRF1+c.1606+60G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:606656">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:922,84,0:101	1|1:0,50:50:99:1867,149,0:101	1|1:0,34:34:99:1182,102,0:101
11	607175	.	G	A	1326.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs936468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=936468" target="_blank">rs936468</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=22079;ExAC.Info.AN=124580;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=17301;ExAC.Info.AC_Hom=2200;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro573Pro/c.1719G>A;snpeff.Amino_Acid_length=1649;snpeff.Gene_Name=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264555;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000416188;SAVANT_GENE=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;SAVANT_INFO=+/35.4kb/18/5.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1716G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHRF1+c.1716G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:607175">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1715:127	0|1:24,21:45:99:682,0,782:127	0|0:47,0:47:99:0,141,1651:127
11	609002	.	G	A	1428.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs202144590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202144590" target="_blank">rs202144590</a>;ExAC.Info.AC=235;ExAC.Info.AN=122960;ExAC.Info.AF=1.911e-03;ExAC.Info.AC_Het=194;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu1182Glu/c.3546G>A;snpeff.Amino_Acid_length=1649;snpeff.Gene_Name=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264555;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000416188;SAVANT_GENE=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;SAVANT_INFO=+/35.4kb/18/5.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.3543G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHRF1+c.3543G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:609002">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2079:127	0|0:76,0:76:99:0,228,2857:127	0|1:38,25:63:99:733,0,1296:127
11	609068	.	G	A	1732.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7928902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7928902" target="_blank">rs7928902</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=22799;ExAC.Info.AN=122496;ExAC.Info.AF=0.186;ExAC.Info.AC_Het=14631;ExAC.Info.AC_Hom=2053;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala1204Ala/c.3612G>A;snpeff.Amino_Acid_length=1649;snpeff.Gene_Name=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264555;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000416188;SAVANT_GENE=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;SAVANT_INFO=+/35.4kb/18/5.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.3609G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHRF1+c.3609G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:609068">View</a>	GT:AD:DP:GQ:PL:TP	0|0:62,0:62:99:0,185,2099:127	0|1:28,31:59:99:885,0,831:127	0|0:56,0:56:99:0,167,1935:127
11	609353	.	G	A	8223.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=738;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11539530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11539530" target="_blank">rs11539530</a>;ExAC.Info.AC=24404;ExAC.Info.AN=124832;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=18477;ExAC.Info.AC_Hom=2764;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro1299Pro/c.3897G>A;snpeff.Amino_Acid_length=1649;snpeff.Gene_Name=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264555;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000416188;SAVANT_GENE=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;SAVANT_INFO=+/35.4kb/18/5.2kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.3894G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHRF1+c.3894G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:609353">View</a>	GT:AD:DP:GQ:PL:TP	0|0:216,0:216:99:0,649,7420:127	0|1:140,148:288:99:4130,0,4051:127	0|0:234,0:234:99:0,702,7787:127
11	610277	.	T	C	19203.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11246212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246212" target="_blank">rs11246212</a>;ExAC.Info.AC=89081;ExAC.Info.AN=110528;ExAC.Info.AF=0.806;ExAC.Info.AC_Het=4677;ExAC.Info.AC_Hom=12691;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val1449Ala/c.4346T>C;snpeff.Amino_Acid_length=1649;snpeff.Gene_Name=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000264555;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000416188;SAVANT_GENE=PHRF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHRF1" target="_blank">PHRF1</a>;SAVANT_INFO=+/35.4kb/18/5.2kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.4343T>C_p.Val1448Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHRF1+c.4343T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:610277">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2671,246,0:127	1|1:0,89:89:99:2998,267,0:127	1|1:0,64:64:99:2177,192,0:127
11	612967	.	A	G	1426.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11246213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246213" target="_blank">rs11246213</a>;ExAC.Info.AC=32000;ExAC.Info.AN=126504;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=21877;ExAC.Info.AC_Hom=4905;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1395+32T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397566;SAVANT_GENE=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;SAVANT_INFO=-/3.2kb/9/2.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1395+32T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF7+c.1395+32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:612967">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1656:127	0|1:26,23:49:99:732,0,785:127	0|0:43,0:43:99:0,132,1507:127
11	613165	.	G	C	3555.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=421;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1051390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1051390" target="_blank">rs1051390</a>;ExAC.Info.AC=31053;ExAC.Info.AN=125924;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=20784;ExAC.Info.AC_Hom=4225;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1276+41C>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1277G>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1277G>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397566;SAVANT_GENE=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;SAVANT_INFO=-/3.2kb/9/2.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1276+41C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF7+c.1276+41C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:613165">View</a>	GT:AD:DP:GQ:PL:TP	0|0:138,0:138:99:0,415,4913:127	0|1:87,69:156:99:1796,0,2689:127	0|0:127,0:127:99:0,382,4505:127
11	613192	.	A	G	4967.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=399;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12422022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12422022" target="_blank">rs12422022</a>;ExAC.Info.AC=30858;ExAC.Info.AN=125792;ExAC.Info.AF=0.245;ExAC.Info.AC_Het=20287;ExAC.Info.AC_Hom=3973;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1276+14T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1277A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1277A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397566;SAVANT_GENE=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;SAVANT_INFO=-/3.2kb/9/2.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1276+14T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF7+c.1276+14T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:613192">View</a>	GT:AD:DP:GQ:PL:TP	0|0:129,0:129:99:0,388,5398:127	0|1:82,67:149:99:2502,0,3119:127	0|0:121,0:121:99:0,367,5104:127
11	613208	.	T	C	5263.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1131665;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1131665" target="_blank">rs1131665</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Systemic_lupus_erythematosus|_association_with;hgmd_2014.2.OMIM_ID=605047;hgmd_2014.2.PubMed=21360504;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21360504" target="_blank">21360504</a>;ExAC.Info.AC=30911;ExAC.Info.AN=125760;ExAC.Info.AF=0.246;ExAC.Info.AC_Het=20356;ExAC.Info.AC_Hom=4016;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1274T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1274T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1274A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln425Arg/c.1274A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397566;SAVANT_GENE=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;SAVANT_INFO=-/3.2kb/9/2.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1274A>G_p.Gln425Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF7+c.1274A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:613208">View</a>	GT:AD:DP:GQ:PL:TP	0|0:116,0:116:99:0,355,5082:127	0|1:79,69:148:99:2650,0,3021:127	0|0:111,0:111:99:0,340,4793:127
11	613297	.	T	G	2480.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1061505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061505" target="_blank">rs1061505</a>;ExAC.Info.AC=30514;ExAC.Info.AN=124538;ExAC.Info.AF=0.245;ExAC.Info.AC_Het=20239;ExAC.Info.AC_Hom=4273;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly395Gly/c.1185A>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397566;SAVANT_GENE=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;SAVANT_INFO=-/3.2kb/9/2.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1185A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF7+c.1185A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:613297">View</a>	GT:AD:DP:GQ:PL:TP	0|0:94,1:95:99:0,275,2982:127	0|1:45,43:88:99:1259,0,1294:127	0|0:76,1:77:99:0,220,2456:127
11	614243	.	C	T	1006.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs41313489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41313489" target="_blank">rs41313489</a>;ExAC.Info.AC=272;ExAC.Info.AN=126186;ExAC.Info.AF=2.156e-03;ExAC.Info.AC_Het=267;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp217Asn/c.649G>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397566;SAVANT_GENE=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;SAVANT_INFO=-/3.2kb/9/2.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.649G>A_p.Asp217Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF7+c.649G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:614243">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1537:123	0|0:55,0:55:99:0,165,2021:123	0|1:18,21:39:99:522,0,489:123
11	614318	.	T	C	1730.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1061502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061502" target="_blank">rs1061502</a>;ExAC.Info.AC=31353;ExAC.Info.AN=125812;ExAC.Info.AF=0.249;ExAC.Info.AC_Het=21005;ExAC.Info.AC_Hom=4401;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys192Glu/c.574A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397566;SAVANT_GENE=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;SAVANT_INFO=-/3.2kb/9/2.1kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.574A>G_p.Lys192Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF7+c.574A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:614318">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1418:122	0|1:46,32:78:99:884,0,1344:122	0|0:47,0:47:99:0,141,1658:122
11	614864	.	C	T	43710.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=528;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1061501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1061501" target="_blank">rs1061501</a>;ExAC.Info.AC=95498;ExAC.Info.AN=117504;ExAC.Info.AF=0.813;ExAC.Info.AC_Het=6878;ExAC.Info.AC_Hom=19494;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366C>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:IRF_tryptophan_pentad_repeat];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366C>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:IRF_tryptophan_pentad_repeat];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366C>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgA;snpeff.Amino_Acid_Change=p.Arg122Arg/c.366G>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397566;SAVANT_GENE=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;SAVANT_INFO=-/3.2kb/9/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.366G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF7+c.366G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:614864">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,175:175:99:5595,526,0:127	1|1:0,202:202:99:6626,605,0:127	1|1:0,151:151:99:4872,453,0:127
11	615010	.	G	T	3852.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12290989;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12290989" target="_blank">rs12290989</a>;ExAC.Info.AC=24935;ExAC.Info.AN=115582;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=12336;ExAC.Info.AC_Hom=2254;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.223-3C>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.223G>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.223G>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:IRF_tryptophan_pentad_repeat];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.223G>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:IRF_tryptophan_pentad_repeat];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.223G>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.223C>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397566;SAVANT_GENE=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;SAVANT_INFO=-/3.2kb/9/2.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.223-3C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF7+c.223-3C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:615010">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,211,3802:127	0|1:41,49:90:99:1945,0,1991:127	0|0:78,0:78:99:0,241,4335:127
11	615011	.	A	T	3852.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12272434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12272434" target="_blank">rs12272434</a>;ExAC.Info.AC=24920;ExAC.Info.AN=115628;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=12248;ExAC.Info.AC_Hom=2225;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.223-4T>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.223A>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.223A>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:IRF_tryptophan_pentad_repeat];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.223A>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:IRF_tryptophan_pentad_repeat];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.223A>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.223T>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330243;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397566;SAVANT_GENE=IRF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRF7" target="_blank">IRF7</a>;SAVANT_INFO=-/3.2kb/9/2.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.223-4T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IRF7+c.223-4T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:615011">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,211,3802:127	0|1:41,49:90:99:1945,0,1991:127	0|0:79,0:79:99:0,241,4335:127
11	616970	.	A	T	9764.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1610161;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1610161" target="_blank">rs1610161</a>;ExAC.Info.AC=7001;ExAC.Info.AN=7004;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=1765;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=381;snpeff.Amino_Acid_Change=c.*381T>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*381T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.*381T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:616970">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1276,111,0:101	1|1:0,35:35:99:1189,105,0:101	1|1:0,35:35:99:1248,105,0:101
11	617378	.	C	T	1028.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61877856;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61877856" target="_blank">rs61877856</a>;ExAC.Info.AC=30756;ExAC.Info.AN=125074;ExAC.Info.AF=0.246;ExAC.Info.AC_Het=20442;ExAC.Info.AC_Hom=3928;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2511C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala837Ala/c.2511G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2511G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.2511G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:617378">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1319:125	0|1:31,22:53:99:533,0,994:125	0|0:51,0:51:99:0,153,1710:125
11	617420	.	A	G	1572.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61877857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61877857" target="_blank">rs61877857</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=30710;ExAC.Info.AN=125176;ExAC.Info.AF=0.245;ExAC.Info.AC_Het=20885;ExAC.Info.AC_Hom=4147;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2469A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2469A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp823Asp/c.2469T>C;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2469T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.2469T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:617420">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1508:127	0|1:31,28:59:99:805,0,888:127	0|0:47,0:47:99:0,141,1697:127
11	617519	.	A	G	1152.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34889521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34889521" target="_blank">rs34889521</a>;ExAC.Info.AC=31277;ExAC.Info.AN=125204;ExAC.Info.AF=0.250;ExAC.Info.AC_Het=21295;ExAC.Info.AC_Hom=4554;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2370A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala790Ala/c.2370T>C;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2370T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.2370T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:617519">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1336:107	0|1:25,20:45:99:595,0,752:107	0|0:44,0:44:99:0,132,1689:107
11	617537	.	C	T	8873.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2740380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2740380" target="_blank">rs2740380</a>;ExAC.Info.AC=67416;ExAC.Info.AN=123942;ExAC.Info.AF=0.544;ExAC.Info.AC_Het=27863;ExAC.Info.AC_Hom=18591;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2352C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2352C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro784Pro/c.2352G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2352G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.2352G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:617537">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1260,107,0:106	1|0:22,20:42:99:553,0,657:106	1|1:0,39:39:99:1319,115,0:106
11	617593	.	G	C	1076.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs137998609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=137998609" target="_blank">rs137998609</a>;ExAC.Info.AC=1410;ExAC.Info.AN=122460;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1288;ExAC.Info.AC_Hom=11;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2296G>C;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2296G>C;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cga/Gga;snpeff.Amino_Acid_Change=p.Arg766Gly/c.2296C>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.2296C>G_p.Arg766Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.2296C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:617593">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1358:112	0|1:19,19:38:99:557,0,539:112	0|0:39,0:39:99:0,117,1323:112
11	617967	.	C	G	9357.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2740379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2740379" target="_blank">rs2740379</a>;ExAC.Info.AC=124850;ExAC.Info.AN=125626;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=686;ExAC.Info.AC_Hom=59698;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2105C>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2105C>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tCt;snpeff.Amino_Acid_Change=p.Cys702Ser/c.2105G>C;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2105G>C_p.Cys702Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.2105G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:617967">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1166,87,0:107	1|1:0,36:36:99:1421,108,0:107	1|1:0,38:38:99:1391,114,0:107
11	618013	.	C	T	1836.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7108757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7108757" target="_blank">rs7108757</a>;ExAC.Info.AC=24166;ExAC.Info.AN=126016;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=18461;ExAC.Info.AC_Hom=2530;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2059C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala687Thr/c.2059G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2059G>A_p.Ala687Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.2059G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:618013">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1849:127	0|1:27,33:60:99:937,0,856:127	0|0:54,0:54:99:0,162,2021:127
11	618172	.	A	G	15443.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs6598008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6598008" target="_blank">rs6598008</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1961-61T>C;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1961A>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1961-61T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.1961-61T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:618172">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2166,180,0:127	1|0:30,44:74:99:1401,0,815:127	1|1:0,75:75:99:2711,225,0:127
11	618998	.	G	A	19669.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=332;MQ=69.70;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2740375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2740375" target="_blank">rs2740375</a>;ExAC.Info.AC=69055;ExAC.Info.AN=126584;ExAC.Info.AF=0.546;ExAC.Info.AC_Het=29642;ExAC.Info.AC_Hom=19514;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1561G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro521Ser/c.1561C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1561C>T_p.Pro521Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.1561C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:618998">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3066,319,0:127	1|0:70,52:122:99:1087,0,2361:127	1|1:1,102:103:99:2896,298,0:127
11	619671	.	C	T	3996.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1124816;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1124816" target="_blank">rs1124816</a>;ExAC.Info.AC=25826;ExAC.Info.AN=126556;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=19313;ExAC.Info.AC_Hom=3007;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1179+10G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1180C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1179+10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.1179+10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:619671">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,280,3610:127	0|1:48,71:119:99:2017,0,1563:127	0|0:108,0:108:99:0,324,3882:127
11	619789	.	T	G	14855.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2246614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2246614" target="_blank">rs2246614</a>;ExAC.Info.AC=78071;ExAC.Info.AN=124798;ExAC.Info.AF=0.626;ExAC.Info.AC_Het=25442;ExAC.Info.AC_Hom=22842;snpeff.Effect=sequence_feature[domain:Cadherin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071T>G;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agA/agC;snpeff.Amino_Acid_Change=p.Arg357Ser/c.1071A>C;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1071A>C_p.Arg357Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.1071A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:619789">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2254,183,0:127	1|0:46,35:81:99:1166,0,1283:127	1|1:0,63:63:99:2270,189,0:127
11	621634	.	G	A	2116.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2740373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2740373" target="_blank">rs2740373</a>;ExAC.Info.AC=16630;ExAC.Info.AN=126704;ExAC.Info.AF=0.131;ExAC.Info.AC_Het=13355;ExAC.Info.AC_Hom=1631;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro145Pro/c.435C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.435C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.435C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:621634">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1429:127	0|1:28,39:67:99:1077,0,849:127	0|0:55,0:55:99:0,165,1912:127
11	621795	.	G	A	1188.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12801890;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12801890" target="_blank">rs12801890</a>;ExAC.Info.AC=24930;ExAC.Info.AN=126610;ExAC.Info.AF=0.197;ExAC.Info.AC_Het=19131;ExAC.Info.AC_Hom=2779;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.405+17C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.405+17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.405+17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:621795">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,137,1490:127	0|1:31,22:53:99:613,0,931:127	0|0:43,0:43:99:0,129,1462:127
11	624674	.	C	T	10140.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=470;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72844723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72844723" target="_blank">rs72844723</a>;ExAC.Info.AC=2447;ExAC.Info.AN=126704;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2371;ExAC.Info.AC_Hom=35;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro48Pro/c.144G>A;snpeff.Amino_Acid_length=845;snpeff.Gene_Name=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397542;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358353;SAVANT_GENE=CDHR5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDHR5" target="_blank">CDHR5</a>;SAVANT_INFO=-/9.5kb/16/3.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.144G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDHR5+c.144G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:624674">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,74:155:99:1946,0,2307:127	0|0:171,0:171:99:0,513,5707:127	1|0:72,72:144:99:1985,0,1998:127
11	627517	.	C	T	1440.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=157;MQ=69.87;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs112888889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112888889" target="_blank">rs112888889</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112888889" target="_blank">rs112888889</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:627517">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2078:110	0|1:33,28:61:99:739,0,970:110	0|0:37,0:37:99:0,111,1347:110
11	636690	.	G	A	9710.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs936462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=936462" target="_blank">rs936462</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=936462" target="_blank">rs936462</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:636690">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:98:1195,98,0:60	1|1:0,53:53:99:2252,162,0:60	1|1:0,20:20:60:819,60,0:60
11	636701	.	CG	C	8272.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3842250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3842250" target="_blank">rs3842250</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3842250" target="_blank">rs3842250</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:636701">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,19:19:66:872,66,0:60	1|1:0,44:44:99:1956,136,0:60	1|1:0,18:18:60:818,60,0:60
11	636703	.	G	T	4385.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2396543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2396543" target="_blank">rs2396543</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2396543" target="_blank">rs2396543</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:636703">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,12:21:99:392,0,192:114	1|1:1,41:42:99:1282,114,0:114	0|1:11,13:24:99:418,0,294:114
11	640003	.	CGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCA	C	709.71	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=49;MQ=69.20;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;PGx_variants.name=PGX_variant;OMIM_phenotypes.name=Autonomic_nervous_system_dysfunction_(3)|_[Novelty_seeking_personality]|_601696_(1)|_{Attention_deficit-hyperactivity_disorder}|_143465_(3);ExAC.Info.AC=2;ExAC.Info.AN=15434;ExAC.Info.AF=1.296e-04;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=cgcctcccccaggacccctgcggccccgactgtgcgccccccgcgcccggccttccccggggtccctgcggccccgactgtgcgcccgccgcgcccagc/cgc;snpeff.Amino_Acid_Change=p.Arg252_Ser284del/c.755_850delGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCA;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=DRD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRD4" target="_blank">DRD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000176183;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000176183;SAVANT_GENE=DRD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRD4" target="_blank">DRD4</a>;SAVANT_INFO=+/3.4kb/4/1.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.807_902del96_p.Arg271_Pro302del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DRD4+c.807_902del96+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:640003">View</a>	GT:AD:DP:GQ:PL:TP	0|0:17,0:17:43:0,43,740:41	0|1:4,10:14:99:378,0,128:41	0|0:18,0:18:47:0,47,763:41
11	640056	.	TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC	T	787.98	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=48;MQ=69.18;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;PGx_variants.name=PGX_variant;OMIM_phenotypes.name=Autonomic_nervous_system_dysfunction_(3)|_[Novelty_seeking_personality]|_601696_(1)|_{Attention_deficit-hyperactivity_disorder}|_143465_(3);ExAC.Info.AC=166;ExAC.Info.AN=13248;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=0;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ccccggggtccctgcggccccgactgtgcgcccgccgcgcccagcctc/;snpeff.Amino_Acid_Change=p.Pro270_Leu285del/c.808_855delCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=DRD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRD4" target="_blank">DRD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000176183;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000176183;SAVANT_GENE=DRD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRD4" target="_blank">DRD4</a>;SAVANT_INFO=+/3.4kb/4/1.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.812_859del48_p.Arg271_Pro286del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DRD4+c.812_859del48+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:640056">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,4:17:99:123,0,519:53	1|0:11,4:15:99:125,0,428:53	0|0:16,0:16:53:0,53,720:53
11	640119	.	C	T	2775.77	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=41;MQ=69.31;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;PGx_variants.name=PGX_variant;OMIM_phenotypes.name=Autonomic_nervous_system_dysfunction_(3)|_[Novelty_seeking_personality]|_601696_(1)|_{Attention_deficit-hyperactivity_disorder}|_143465_(3);dbSNP139.ID=rs762502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=762502" target="_blank">rs762502</a>;ExAC.Info.AC=12698;ExAC.Info.AN=20700;ExAC.Info.AF=0.613;ExAC.Info.AC_Het=65;ExAC.Info.AC_Hom=358;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys290Cys/c.870C>T;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=DRD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRD4" target="_blank">DRD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000176183;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000176183;SAVANT_GENE=DRD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRD4" target="_blank">DRD4</a>;SAVANT_INFO=+/3.4kb/4/1.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.870C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DRD4+c.870C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:640119">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:30:459,30,0:25	1|0:12,7:19:99:223,0,451:25	1|1:0,10:10:27:362,27,0:25
11	640369	.	G	C	2232.76	VQSRTrancheSNP99.00to99.90	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Autonomic_nervous_system_dysfunction_(3)|_[Novelty_seeking_personality]|_601696_(1)|_{Attention_deficit-hyperactivity_disorder}|_143465_(3);dbSNP139.ID=rs7482904;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7482904" target="_blank">rs7482904</a>;ExAC.Info.AC=28552;ExAC.Info.AN=120436;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=17985;ExAC.Info.AC_Hom=3360;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1058-32G>C;snpeff.Amino_Acid_length=419;snpeff.Gene_Name=DRD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRD4" target="_blank">DRD4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000176183;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000176183;SAVANT_GENE=DRD4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DRD4" target="_blank">DRD4</a>;SAVANT_INFO=+/3.4kb/4/1.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1058-32G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DRD4+c.1058-32G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:640369">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,689:52	0|1:15,35:50:99:1135,0,430:52	0|0:18,0:18:54:0,54,736:52
11	644325	.	G	A	6210.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17758;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17758" target="_blank">rs17758</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=225;snpeff.Amino_Acid_Change=c.*225C>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382409;SAVANT_GENE=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;SAVANT_INFO=-/51.3kb/12/2.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*225C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEAF1+c.*225C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:644325">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,48:71:99:1572,0,707:127	1|0:49,41:90:99:1228,0,1712:127	0|0:92,0:92:99:0,277,3725:127
11	651414	.	GA	G	69.49	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=16;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs200274966;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200274966" target="_blank">rs200274966</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1593+2547delT;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594delA;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594delA;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYND-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594delA;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:MYND-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1594delA;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000382409;SAVANT_GENE=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;SAVANT_INFO=-/51.3kb/12/2.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1593+2547delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEAF1+c.1593+2547delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:651414">View</a>	GT:AD:DP:GQ:PL:TP	0|0:6,0:6:18:0,18,146:4	0|1:3,3:6:40:56,0,40:4	0|0:3,1:4:2:0,2,63:4
11	674499	.	G	A	17769.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs6597996;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6597996" target="_blank">rs6597996</a>;ExAC.Info.AC=69908;ExAC.Info.AN=126704;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=30093;ExAC.Info.AC_Hom=19905;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.843+240G>A;snpeff.Gene_Name=RP11-754B17.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-754B171" target="_blank">RP11-754B171</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527799;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1503+37C>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-754B171" target="_blank">RP11-754B171</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382409;SAVANT_GENE=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;SAVANT_INFO=-/51.3kb/12/2.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1503+37C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEAF1+c.1503+37C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:674499">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,49:91:99:1492,0,1151:127	0|1:51,80:131:99:2579,0,1410:127	1|1:0,101:101:99:3977,304,0:127
11	678973	.	C	T	13797.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7935419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7935419" target="_blank">rs7935419</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1127-151G>A;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382409;SAVANT_GENE=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;SAVANT_INFO=-/51.3kb/12/2.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1127-151G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEAF1+c.1127-151G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:678973">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1720,159,0:127	1|1:0,67:67:99:2252,201,0:127	1|1:0,55:55:99:1991,165,0:127
11	681078	.	G	C	3002.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35887544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35887544" target="_blank">rs35887544</a>;ExAC.Info.AC=1095;ExAC.Info.AN=126704;ExAC.Info.AF=8.642e-03;ExAC.Info.AC_Het=1081;ExAC.Info.AC_Hom=7;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtG;snpeff.Amino_Acid_Change=p.Val294Val/c.882C>G;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382409;SAVANT_GENE=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;SAVANT_INFO=-/51.3kb/12/2.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.882C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEAF1+c.882C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:681078">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,274,3400:127	0|1:67,49:116:99:1520,0,2011:127	0|0:92,0:92:99:0,277,3386:127
11	688091	.	C	T	28473.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=598;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs12277188;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12277188" target="_blank">rs12277188</a>;ExAC.Info.AC=57813;ExAC.Info.AN=126554;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=29846;ExAC.Info.AC_Hom=13515;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.518-34G>A;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382409;SAVANT_GENE=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;SAVANT_INFO=-/51.3kb/12/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.518-34G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEAF1+c.518-34G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:688091">View</a>	GT:AD:DP:GQ:PL:TP	1|0:83,104:187:99:3020,0,2248:127	0|1:111,119:230:99:3581,0,3170:127	1|1:0,181:181:99:6396,544,0:127
11	691636	.	G	A	24296.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=550;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11246268;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246268" target="_blank">rs11246268</a>;ExAC.Info.AC=54247;ExAC.Info.AN=126608;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=28285;ExAC.Info.AC_Hom=11368;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.290-38C>T;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.290G>A;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ala-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.290G>A;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382409;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000382409;SAVANT_GENE=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEAF1" target="_blank">DEAF1</a>;SAVANT_INFO=-/51.3kb/12/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.290-38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEAF1+c.290-38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:691636">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,90:170:99:2499,0,2382:127	0|1:97,90:187:99:2539,0,3013:127	1|1:0,193:193:99:6562,580,0:127
11	698807	.	C	T	10190.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4963166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4963166" target="_blank">rs4963166</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.50-62C>T;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=TMEM80;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526170;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000397510;SAVANT_GENE=TMEM80;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM80" target="_blank">TMEM80</a>;SAVANT_INFO=+/7.8kb/5/0.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.95-62C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM80+c.95-62C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:698807">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,47:82:99:1206,0,930:127	0|1:52,37:89:99:1037,0,1487:127	1|1:0,72:72:99:2340,216,0:127
11	704583	.	A	G	10987.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs10902201;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902201" target="_blank">rs10902201</a>;ExAC.Info.AC=7809;ExAC.Info.AN=19566;ExAC.Info.AF=0.399;ExAC.Info.AC_Het=2931;ExAC.Info.AC_Hom=1338;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr200Thr/c.600A>G;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=TMEM80;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526170;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:704583">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,37:75:99:1387,0,1411:127	0|1:47,38:85:99:1373,0,1811:127	1|1:0,42:42:99:1834,132,0:127
11	704604	.	GA	G	11976.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs35782494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35782494" target="_blank">rs35782494</a>;ExAC.Info.AC=7641;ExAC.Info.AN=18770;ExAC.Info.AF=0.407;ExAC.Info.AC_Het=2934;ExAC.Info.AC_Hom=1327;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DEAF1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=acc/;snpeff.Amino_Acid_Change=p.Thr208fs/c.622delA;snpeff.Amino_Acid_length=220;snpeff.Gene_Name=TMEM80;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526170;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;LOF=(TMEM80|ENSG00000177042|1|1.00);TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:704604">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,39:78:99:1555,0,1486:127	0|1:53,39:92:99:1396,0,2019:127	1|1:0,48:48:99:2045,144,0:127
11	720197	.	C	T	12995.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=258;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3087546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3087546" target="_blank">rs3087546</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=68314;ExAC.Info.AN=126232;ExAC.Info.AF=0.541;ExAC.Info.AC_Het=29553;ExAC.Info.AC_Hom=18882;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.72+6779G>A;snpeff.Gene_Name=AP006621.9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066219" target="_blank">AP0066219</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527021;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu101Leu/c.301C>T;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066219" target="_blank">AP0066219</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526198;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533256;SAVANT_GENE=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;SAVANT_INFO=+/21.6kb/22/3.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.301C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L2+c.301C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:720197">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,37:81:99:1138,0,1495:127	1|1:1,103:104:99:3641,273,0:127	0|1:44,29:73:99:817,0,1396:127
11	721570	.	C	T	15035.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=702;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7635" target="_blank">rs7635</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=49108;ExAC.Info.AN=126004;ExAC.Info.AF=0.390;ExAC.Info.AC_Het=26282;ExAC.Info.AC_Hom=10422;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.72+5406G>A;snpeff.Gene_Name=AP006621.9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066219" target="_blank">AP0066219</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527021;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile274Ile/c.822C>T;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066219" target="_blank">AP0066219</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526198;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533256;SAVANT_GENE=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;SAVANT_INFO=+/21.6kb/22/3.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.774C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L2+c.774C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:721570">View</a>	GT:AD:DP:GQ:PL:TP	0|1:105,97:202:99:2607,0,2910:127	1|0:143,121:264:99:3325,0,4284:127	0|0:236,0:236:99:0,709,8439:127
11	723429	.	C	T	5457.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4078520;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4078520" target="_blank">rs4078520</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1502+76C>T;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526198;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.72+3547G>A;snpeff.Gene_Name=AP006621.9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527021;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0139.1:CTCF];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533256;SAVANT_GENE=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;SAVANT_INFO=+/21.6kb/22/3.3kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1454+76C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L2+c.1454+76C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:723429">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,25:61:99:649,0,1007:127	1|1:0,45:45:99:1516,135,0:127	0|0:61,0:61:99:0,183,2076:127
11	726178	.	G	C	16870.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28498399;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28498399" target="_blank">rs28498399</a>;ExAC.Info.AC=118896;ExAC.Info.AN=118956;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=40;ExAC.Info.AC_Hom=53135;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1801+8G>C;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526198;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.72+798C>G;snpeff.Gene_Name=AP006621.9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527021;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1802G>C;snpeff.Amino_Acid_length=731;snpeff.Gene_Name=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526198;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533256;SAVANT_GENE=EPS8L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPS8L2" target="_blank">EPS8L2</a>;SAVANT_INFO=+/21.6kb/22/3.3kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1753+8G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EPS8L2+c.1753+8G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:726178">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:2765,255,0:127	1|1:0,74:74:99:2659,222,0:127	1|1:0,65:65:99:2116,195,0:127
11	771034	.	A	G	5028.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7930569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7930569" target="_blank">rs7930569</a>;ExAC.Info.AC=59626;ExAC.Info.AN=126284;ExAC.Info.AF=0.472;ExAC.Info.AC_Het=29656;ExAC.Info.AC_Hom=14187;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.544+299T>C;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=PDDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDDC1" target="_blank">PDDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397472;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319863;SAVANT_GENE=PDDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDDC1" target="_blank">PDDC1</a>;SAVANT_INFO=-/10.3kb/8/4.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.615T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDDC1+c.615T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:771034">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,26:52:99:712,0,827:127	1|0:49,35:84:99:1027,0,1483:127	0|0:61,0:61:99:0,183,2293:127
11	772490	.	G	A	9383.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=341;MQ=67.21;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12224894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12224894" target="_blank">rs12224894</a>;ExAC.Info.AC=53634;ExAC.Info.AN=126616;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=28267;ExAC.Info.AC_Hom=12485;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala129Ala/c.387C>T;snpeff.Amino_Acid_length=250;snpeff.Gene_Name=PDDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDDC1" target="_blank">PDDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397472;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319863;SAVANT_GENE=PDDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDDC1" target="_blank">PDDC1</a>;SAVANT_INFO=-/10.3kb/8/4.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.387C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDDC1+c.387C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:772490">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,53:106:99:1472,0,1292:127	1|0:58,78:136:99:2110,0,1528:127	0|0:99,0:99:99:0,297,3249:127
11	783887	.	C	T	17593.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=823;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72844791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72844791" target="_blank">rs72844791</a>;ExAC.Info.AC=51;ExAC.Info.AN=17632;ExAC.Info.AF=2.892e-03;ExAC.Info.AC_Het=44;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg70Cys/c.208C>T;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=AP006621.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066215" target="_blank">AP0066215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530083;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000530083;SAVANT_GENE=AP006621.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066215" target="_blank">AP0066215</a>;SAVANT_INFO=+/6.6kb/2/0.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.208C>T_p.Arg70Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP0066215+c.208C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:783887">View</a>	GT:AD:DP:GQ:PL:TP	1|0:125,128:253:99:3457,0,3402:127	0|0:315,0:315:99:0,947,10855:127	1|0:126,129:255:99:3666,0,3582:127
11	800485	.	T	A	10787.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7121646;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7121646" target="_blank">rs7121646</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2042-34A>T;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2042T>A;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2042T>A;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2042T>A;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2042T>A;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347755;SAVANT_GENE=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;SAVANT_INFO=-/6.1kb/16/3.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2042-34A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIDD+c.2042-34A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:800485">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,43:95:99:1647,0,2782:127	1|0:54,59:113:99:2315,0,2719:127	0|0:85,0:85:99:0,259,4781:127
11	800486	.	C	T	10787.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7117921;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7117921" target="_blank">rs7117921</a>;ExAC.Info.AC=59887;ExAC.Info.AN=125386;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=29938;ExAC.Info.AC_Hom=14680;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2042-35G>A;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2042C>T;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2042C>T;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2042C>T;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:UPA_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2042C>T;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347755;SAVANT_GENE=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;SAVANT_INFO=-/6.1kb/16/3.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2042-35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIDD+c.2042-35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:800486">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,43:95:99:1647,0,2782:127	1|0:54,59:113:99:2315,0,2719:127	0|0:85,0:85:99:0,259,4781:127
11	801092	.	G	A	3593.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11539604;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11539604" target="_blank">rs11539604</a>;ExAC.Info.AC=6254;ExAC.Info.AN=124650;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=4952;ExAC.Info.AC_Hom=198;snpeff.Effect=sequence_feature[domain:ZU5_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1659G>A;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1659G>A;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1659G>A;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His553His/c.1659C>T;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347755;SAVANT_GENE=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;SAVANT_INFO=-/6.1kb/16/3.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1659C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIDD+c.1659C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:801092">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,20:37:99:541,0,527:127	0|0:63,0:63:99:0,189,2363:127	1|0:31,28:59:99:774,0,992:127
11	801631	.	T	TG	3239.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=124;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs55974235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55974235" target="_blank">rs55974235</a>;ExAC.Info.AC=41032;ExAC.Info.AN=103722;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=6055;ExAC.Info.AC_Hom=2889;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1303-7_1303-8insC;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S68];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1303_1304insG;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S68];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1303_1304insG;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1303_1304insC;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000347755;SAVANT_GENE=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;SAVANT_INFO=-/6.1kb/16/3.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1303-8dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIDD+c.1303-8dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:801631">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,16:35:99:406,0,502:104	1|0:24,30:54:99:787,0,597:104	0|0:35,0:35:99:0,105,1119:104
11	802115	.	A	G	4500.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7479101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7479101" target="_blank">rs7479101</a>;ExAC.Info.AC=68758;ExAC.Info.AN=116980;ExAC.Info.AF=0.588;ExAC.Info.AC_Het=10471;ExAC.Info.AC_Hom=7881;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1177-25T>C;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177A>G;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177A>G;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177A>G;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347755;SAVANT_GENE=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;SAVANT_INFO=-/6.1kb/16/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1177-25T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIDD+c.1177-25T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:802115">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,26:46:99:755,0,627:127	1|0:28,31:59:99:951,0,822:127	0|0:70,0:70:99:0,211,2552:127
11	802125	.	T	C	14901.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28498421;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28498421" target="_blank">rs28498421</a>;ExAC.Info.AC=105173;ExAC.Info.AN=113066;ExAC.Info.AF=0.930;ExAC.Info.AC_Het=1925;ExAC.Info.AC_Hom=18091;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1177-35A>G;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177T>C;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177T>C;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1177T>C;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347755;SAVANT_GENE=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;SAVANT_INFO=-/6.1kb/16/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1177-35A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIDD+c.1177-35A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:802125">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1730,123,0:127	1|1:0,48:48:99:1935,144,0:127	1|1:0,60:60:99:2346,180,0:127
11	802379	.	T	C	2534.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10902221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902221" target="_blank">rs10902221</a>;ExAC.Info.AC=56765;ExAC.Info.AN=125948;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=27865;ExAC.Info.AC_Hom=13817;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.992T>C;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.992T>C;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZU5_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.992T>C;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln331Arg/c.992A>G;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347755;SAVANT_GENE=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;SAVANT_INFO=-/6.1kb/16/3.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.992A>G_p.Gln331Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIDD+c.992A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:802379">View</a>	GT:AD:DP:GQ:PL:TP	0|1:14,18:32:99:451,0,420:69	1|0:8,20:28:99:634,0,207:69	0|0:23,0:23:69:0,69,878:69
11	804212	.	C	A	7224.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7104785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7104785" target="_blank">rs7104785</a>;ExAC.Info.AC=56963;ExAC.Info.AN=126248;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=28077;ExAC.Info.AC_Hom=13861;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctT;snpeff.Amino_Acid_Change=p.Leu59Leu/c.177G>T;snpeff.Amino_Acid_length=910;snpeff.Gene_Name=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347755;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347755;SAVANT_GENE=PIDD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIDD" target="_blank">PIDD</a>;SAVANT_INFO=-/6.1kb/16/3.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.177G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIDD+c.177G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:804212">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,38:71:99:1056,0,842:127	1|0:35,53:88:99:1485,0,1005:127	0|0:80,0:80:99:0,240,2786:127
11	822622	.	A	G	13154.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Neutral_lipid_storage_disease_with_myopathy|_610717_(3);dbSNP139.ID=rs7942159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7942159" target="_blank">rs7942159</a>;ExAC.Info.AC=67441;ExAC.Info.AN=126480;ExAC.Info.AF=0.533;ExAC.Info.AC_Het=28571;ExAC.Info.AC_Hom=19114;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.696+16A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336615;SAVANT_GENE=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;SAVANT_INFO=+/6.7kb/10/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.696+16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNPLA2+c.696+16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:822622">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,30:79:99:806,0,1530:127	1|1:0,137:137:99:5064,411,0:127	0|0:97,0:97:99:0,290,3320:127
11	823729	.	C	T	5838.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Neutral_lipid_storage_disease_with_myopathy|_610717_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56152088;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56152088" target="_blank">rs56152088</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_activity;hgmd_2014.2.OMIM_ID=609059;hgmd_2014.2.PubMed=21170305;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21170305" target="_blank">21170305</a>;ExAC.Info.AC=1897;ExAC.Info.AN=124848;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1665;ExAC.Info.AC_Hom=24;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.441G>A;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.793C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro265Ser/c.793C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336615;SAVANT_GENE=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;SAVANT_INFO=+/6.7kb/10/2.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.793C>T_p.Pro265Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNPLA2+c.793C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:823729">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,38:80:99:986,0,1242:127	1|0:51,47:98:99:1136,0,1641:127	0|0:67,0:67:99:0,200,2358:127
11	823735	.	G	C	268.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Neutral_lipid_storage_disease_with_myopathy|_610717_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=345;ExAC.Info.AN=124936;ExAC.Info.AF=2.761e-03;ExAC.Info.AC_Het=226;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.435C>G;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Ccc;snpeff.Amino_Acid_Change=p.Ala267Pro/c.799G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336615;SAVANT_GENE=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;SAVANT_INFO=+/6.7kb/10/2.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.799G>C_p.Ala267Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNPLA2+c.799G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:823735">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,10:78:46:0,46,2770:46	0|0:93,8:101:99:0,127,3839:46	0|1:47,12:59:99:153,0,1676:46
11	823739	.	G	C	258.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Neutral_lipid_storage_disease_with_myopathy|_610717_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=24;ExAC.Info.AN=124978;ExAC.Info.AF=1.920e-04;ExAC.Info.AC_Het=31;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.431C>G;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.803G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.803G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.803G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.803G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.803G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.803G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.803G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.803G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.803G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cCc;snpeff.Amino_Acid_Change=p.Arg268Pro/c.803G>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336615;SAVANT_GENE=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;SAVANT_INFO=+/6.7kb/10/2.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.803G>C_p.Arg268Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNPLA2+c.803G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:823739">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,9:81:49:0,49,2784:49	0|0:98,8:106:99:0,130,3897:49	0|1:51,11:62:99:148,0,1715:49
11	823809	.	C	G	8135.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Neutral_lipid_storage_disease_with_myopathy|_610717_(3);dbSNP139.ID=rs1135628;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1135628" target="_blank">rs1135628</a>;ExAC.Info.AC=32046;ExAC.Info.AN=124518;ExAC.Info.AF=0.257;ExAC.Info.AC_Het=19159;ExAC.Info.AC_Hom=4106;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.361G>C;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873C>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873C>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873C>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873C>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873C>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873C>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873C>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873C>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.873C>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro291Pro/c.873C>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336615;SAVANT_GENE=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;SAVANT_INFO=+/6.7kb/10/2.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.873C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNPLA2+c.873C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:823809">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,39:86:99:1064,0,1264:127	0|0:89,1:90:99:0,260,3148:127	1|1:0,53:53:99:1933,159,0:127
11	824789	.	T	C	9539.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Neutral_lipid_storage_disease_with_myopathy|_610717_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1138693;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1138693" target="_blank">rs1138693</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Reduced_activity;hgmd_2014.2.OMIM_ID=609059;hgmd_2014.2.PubMed=21170305;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21170305" target="_blank">21170305</a>;ExAC.Info.AC=47448;ExAC.Info.AN=81918;ExAC.Info.AF=0.579;ExAC.Info.AC_Het=3577;ExAC.Info.AC_Hom=2845;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.307-926A>G;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1442T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1442T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1442T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1442T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1442T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1442T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1442T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1442T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1442T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu481Pro/c.1442T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336615;SAVANT_GENE=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;SAVANT_INFO=+/6.7kb/10/2.4kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1442T>C_p.Leu481Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNPLA2+c.1442T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:824789">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,35:68:99:1047,0,938:127	1|1:0,83:83:99:3049,249,0:127	0|0:51,0:51:99:0,153,1902:127
11	824987	.	CTGCA	C	13087.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Neutral_lipid_storage_disease_with_myopathy|_610717_(3);dbSNP139.ID=rs66460720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66460720" target="_blank">rs66460720</a>;ExAC.Info.AC=8567;ExAC.Info.AN=16858;ExAC.Info.AF=0.508;ExAC.Info.AC_Het=2867;ExAC.Info.AC_Hom=1916;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.307-1128_307-1125delTGCA;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=126;snpeff.Amino_Acid_Change=c.*126_*129delTGCA;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336615;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000336615;SAVANT_GENE=PNPLA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PNPLA2" target="_blank">PNPLA2</a>;SAVANT_INFO=+/6.7kb/10/2.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*130_*133delTGCA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PNPLA2+c.*130_*133delTGCA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:824987">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,29:79:99:1068,0,2338:127	1|1:0,91:91:99:4043,275,0:127	0|0:69,0:69:99:0,207,3567:127
11	828784	.	A	G	8263.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs28507876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28507876" target="_blank">rs28507876</a>;ExAC.Info.AC=96216;ExAC.Info.AN=125224;ExAC.Info.AF=0.768;ExAC.Info.AC_Het=20071;ExAC.Info.AC_Hom=37543;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.165+12A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.306+1781T>C;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.166A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.166A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450448;SAVANT_GENE=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;SAVANT_INFO=+/4.4kb/9/1.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.165+12A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB4A+c.165+12A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:828784">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,32:85:99:800,0,1342:127	0|1:42,39:81:99:1009,0,1257:127	1|1:0,44:44:99:1545,132,0:127
11	828916	.	G	A	9968.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7126805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7126805" target="_blank">rs7126805</a>;ExAC.Info.AC=82357;ExAC.Info.AN=124948;ExAC.Info.AF=0.659;ExAC.Info.AC_Het=25051;ExAC.Info.AC_Hom=28085;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.306+1649C>T;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg77Gln/c.230G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450448;SAVANT_GENE=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;SAVANT_INFO=+/4.4kb/9/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.230G>A_p.Arg77Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB4A+c.230G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:828916">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,41:70:99:1268,0,848:127	0/1:49,50:99:99:1429,0,1343:127	0/1:17,40:57:99:1299,0,468:127
11	830044	.	G	A	5848.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35567200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35567200" target="_blank">rs35567200</a>;ExAC.Info.AC=3470;ExAC.Info.AN=120226;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=1774;ExAC.Info.AC_Hom=45;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.306+521C>T;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly173Ser/c.517G>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450448;SAVANT_GENE=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;SAVANT_INFO=+/4.4kb/9/1.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.517G>A_p.Gly173Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB4A+c.517G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:830044">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,40:75:99:1024,0,998:127	0|0:83,0:83:99:0,249,2964:127	1|0:46,40:86:99:1109,0,1222:127
11	830120	.	A	G	3645.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|D|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs145926870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145926870" target="_blank">rs145926870</a>;ExAC.Info.AC=1927;ExAC.Info.AN=107642;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=477;ExAC.Info.AC_Hom=17;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.306+445T>C;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln198Arg/c.593A>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450448;SAVANT_GENE=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;SAVANT_INFO=+/4.4kb/9/1.8kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.593A>G_p.Gln198Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB4A+c.593A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:830120">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,24:54:99:692,0,807:127	0|0:59,0:59:99:0,177,2236:127	1|0:26,20:46:99:552,0,879:127
11	830383	.	G	T	3821.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72847210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72847210" target="_blank">rs72847210</a>;ExAC.Info.AC=640;ExAC.Info.AN=38740;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=380;ExAC.Info.AC_Hom=13;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.693+46G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.306+182C>A;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450448;SAVANT_GENE=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;SAVANT_INFO=+/4.4kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.693+46G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB4A+c.693+46G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:830383">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,23:39:99:674,0,442:127	0|0:57,0:57:99:0,171,2048:127	1|0:17,24:41:99:735,0,467:127
11	830487	.	C	T	4080.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4075290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4075290" target="_blank">rs4075290</a>;ExAC.Info.AC=12081;ExAC.Info.AN=23130;ExAC.Info.AF=0.522;ExAC.Info.AC_Het=3426;ExAC.Info.AC_Hom=2321;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.694-134C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.306+78G>A;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450448;SAVANT_GENE=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;SAVANT_INFO=+/4.4kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.694-134C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB4A+c.694-134C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:830487">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,262,3201:127	0|1:44,73:117:99:2059,0,1187:127	0|0:79,0:79:99:0,237,3026:127
11	830497	.	C	A	5445.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs113266690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113266690" target="_blank">rs113266690</a>;ExAC.Info.AC=530;ExAC.Info.AN=28592;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=376;ExAC.Info.AC_Hom=14;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.694-124C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.306+68G>T;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694C>A;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450448;SAVANT_GENE=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;SAVANT_INFO=+/4.4kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.694-124C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB4A+c.694-124C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:830497">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,27:90:99:473,0,1890:127	0|0:118,0:118:99:0,358,4823:127	1|0:35,43:78:99:1114,0,940:127
11	830601	.	T	TGGTC	4217.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs35878786;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35878786" target="_blank">rs35878786</a>;ExAC.Info.AC=891;ExAC.Info.AN=38974;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=556;ExAC.Info.AC_Hom=41;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.269_270insGACC;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.694-19_694-18insGGTC;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694_695insGGTC;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694_695insGGTC;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694_695insGGTC;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694_695insGGTC;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694_695insGGTC;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.694_695insGGTC;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000450448;SAVANT_GENE=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;SAVANT_INFO=+/4.4kb/9/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.694-19_694-16dupGGTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB4A+c.694-19_694-16dupGGTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:830601">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,14:46:99:516,0,1292:127	0|0:66,0:66:99:0,199,2950:127	1|0:24,20:44:99:767,0,948:127
11	830670	.	G	T	1030.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4075289;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4075289" target="_blank">rs4075289</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=19994;ExAC.Info.AN=39970;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=3701;ExAC.Info.AC_Hom=2527;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.201C>A;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.743G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aTc;snpeff.Amino_Acid_Change=p.Ser248Ile/c.743G>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0066218" target="_blank">AP0066218</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450448;SAVANT_GENE=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;SAVANT_INFO=+/4.4kb/9/1.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.743G>T_p.Ser248Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB4A+c.743G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:830670">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,884:73	0|1:16,19:35:99:534,0,419:73	0|0:26,0:26:78:0,78,976:73
11	831054	.	C	G	2658.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.953+22C>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.173-356G>C;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>G;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450448;SAVANT_GENE=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;SAVANT_INFO=+/4.4kb/9/1.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.787-170C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB4A+c.787-170C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:831054">View</a>	GT:AD:DP:GQ:PL:TP	0|1:7,10:17:99:331,0,236:60	1|0:15,17:32:99:515,0,441:60	0|0:20,0:20:60:0,60,771:60
11	831122	.	C	T	1314.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7114218;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7114218" target="_blank">rs7114218</a>;ExAC.Info.AC=76144;ExAC.Info.AN=118608;ExAC.Info.AF=0.642;ExAC.Info.AC_Het=12783;ExAC.Info.AC_Hom=14102;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.953+90C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.173-424G>A;snpeff.Gene_Name=AP006621.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532946;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.954C>T;snpeff.Amino_Acid_length=399;snpeff.Gene_Name=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525077;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450448;SAVANT_GENE=EFCAB4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB4A" target="_blank">EFCAB4A</a>;SAVANT_INFO=+/4.4kb/9/1.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.787-102C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EFCAB4A+c.787-102C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:831122">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1318:92	0|1:17,23:40:99:676,0,538:92	0|0:31,0:31:93:0,93,1129:92
11	836184	.	A	C	1241.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness|_609057_(3)|_[Blood_group|_Raph]|_179620_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.84+31A>C;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322008;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397420;SAVANT_GENE=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;SAVANT_INFO=+/6.0kb/9/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.84+31A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD151+c.84+31A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:836184">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,9:32:99:165,0,818:127	0/1:29,11:40:99:192,0,1229:127	0/1:22,10:32:99:219,0,922:127
11	836190	.	A	C	1777.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness|_609057_(3)|_[Blood_group|_Raph]|_179620_(3);ExAC.Info.AC=582;ExAC.Info.AN=124710;ExAC.Info.AF=4.667e-03;ExAC.Info.AC_Het=492;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.84+37A>C;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322008;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397420;SAVANT_GENE=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;SAVANT_INFO=+/6.0kb/9/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.84+37A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD151+c.84+37A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:836190">View</a>	GT:AD:DP:GQ:PL:TP	0/1:24,10:34:99:289,0,626:127	0/1:32,12:44:99:270,0,874:127	0/1:23,11:34:99:271,0,595:127
11	836195	.	T	C	944.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness|_609057_(3)|_[Blood_group|_Raph]|_179620_(3);ExAC.Info.AC=435;ExAC.Info.AN=124900;ExAC.Info.AF=3.483e-03;ExAC.Info.AC_Het=389;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.84+42T>C;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322008;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397420;SAVANT_GENE=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;SAVANT_INFO=+/6.0kb/9/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.84+42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD151+c.84+42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:836195">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,7:39:81:81,0,1133:80	0/1:33,7:40:99:161,0,1321:80	0/1:27,8:35:99:197,0,1100:80
11	836227	.	A	G	8319.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness|_609057_(3)|_[Blood_group|_Raph]|_179620_(3);dbSNP139.ID=rs28434354;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28434354" target="_blank">rs28434354</a>;ExAC.Info.AC=119455;ExAC.Info.AN=124948;ExAC.Info.AF=0.956;ExAC.Info.AC_Het=5046;ExAC.Info.AC_Hom=56262;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.85-24A>G;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322008;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397420;SAVANT_GENE=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;SAVANT_INFO=+/6.0kb/9/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.85-24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD151+c.85-24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:836227">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,17:45:99:516,0,824:127	1|1:0,58:58:99:2221,174,0:127	0|1:28,25:53:99:856,0,859:127
11	836539	.	TG	T	4181.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness|_609057_(3)|_[Blood_group|_Raph]|_179620_(3);dbSNP139.ID=rs56063221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56063221" target="_blank">rs56063221</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.276+98delG;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322008;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000397420;SAVANT_GENE=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;SAVANT_INFO=+/6.0kb/9/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.276+107delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD151+c.276+107delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:836539">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,15:24:99:348,0,179:97	1|1:0,33:33:98:874,98,0:97	0|1:20,19:39:99:427,0,449:97
11	837582	.	G	A	3258.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=321;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness|_609057_(3)|_[Blood_group|_Raph]|_179620_(3);dbSNP139.ID=rs1130663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1130663" target="_blank">rs1130663</a>;ExAC.Info.AC=84315;ExAC.Info.AN=125964;ExAC.Info.AF=0.669;ExAC.Info.AC_Het=25612;ExAC.Info.AC_Hom=28774;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=POLR2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR2L" target="_blank">POLR2L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly193Gly/c.579G>A;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR2L" target="_blank">POLR2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322008;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397420;SAVANT_GENE=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;SAVANT_INFO=+/6.0kb/9/1.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.579G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD151+c.579G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:837582">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,301,3606:127	0|1:62,62:124:99:1648,0,1916:127	0|0:97,0:97:99:0,292,3645:127
11	838110	.	C	T	4170.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness|_609057_(3)|_[Blood_group|_Raph]|_179620_(3);dbSNP139.ID=rs5030780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5030780" target="_blank">rs5030780</a>;ExAC.Info.AC=84386;ExAC.Info.AN=126034;ExAC.Info.AF=0.670;ExAC.Info.AC_Het=25670;ExAC.Info.AC_Hom=28885;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=POLR2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR2L" target="_blank">POLR2L</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.703-23C>T;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR2L" target="_blank">POLR2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322008;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397420;SAVANT_GENE=CD151;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD151" target="_blank">CD151</a>;SAVANT_INFO=+/6.0kb/9/1.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.703-23C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD151+c.703-23C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:838110">View</a>	GT:AD:DP:GQ:PL:TP	0|0:156,0:156:99:0,469,5467:127	0|1:82,72:154:99:2104,0,2402:127	0|0:162,0:162:99:0,486,5599:127
11	840477	.	A	G	2826.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4895" target="_blank">rs4895</a>;ExAC.Info.AC=84193;ExAC.Info.AN=125820;ExAC.Info.AF=0.669;ExAC.Info.AC_Het=25466;ExAC.Info.AC_Hom=28649;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp33Asp/c.99T>C;snpeff.Amino_Acid_length=67;snpeff.Gene_Name=POLR2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR2L" target="_blank">POLR2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322028;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322028;SAVANT_GENE=POLR2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR2L" target="_blank">POLR2L</a>;SAVANT_INFO=-/2.8kb/2/0.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.99T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POLR2L+c.99T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:840477">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2433:127	0|1:53,53:106:99:1431,0,1463:127	0|0:99,0:99:99:0,297,3268:127
11	842543	.	C	G	2708.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs28372895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28372895" target="_blank">rs28372895</a>;ExAC.Info.AC=80813;ExAC.Info.AN=122784;ExAC.Info.AF=0.658;ExAC.Info.AC_Het=22475;ExAC.Info.AC_Hom=24906;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=35;snpeff.Amino_Acid_Change=c.-35G>C;snpeff.Amino_Acid_length=67;snpeff.Gene_Name=POLR2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR2L" target="_blank">POLR2L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322028;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322028;SAVANT_GENE=POLR2L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=POLR2L" target="_blank">POLR2L</a>;SAVANT_INFO=-/2.8kb/2/0.9kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-35G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=POLR2L+c.-35G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:842543">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,233,2482:127	0|1:53,52:105:99:1373,0,1347:127	0|0:70,0:70:99:0,209,2226:127
11	850170	.	T	G	22481.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28704105;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28704105" target="_blank">rs28704105</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.41-118T>G;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409531;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397404;SAVANT_GENE=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;SAVANT_INFO=+/22.7kb/9/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-135T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN4+c.-135T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:850170">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:3035,267,0:127	1|1:0,98:98:99:3482,294,0:127	1|1:0,74:74:99:2639,222,0:127
11	850207	.	C	T	11599.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs138052940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138052940" target="_blank">rs138052940</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.41-81C>T;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409531;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397404;SAVANT_GENE=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;SAVANT_INFO=+/22.7kb/9/1.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-98C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN4+c.-98C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:850207">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,83:142:99:2111,0,1581:127	1|0:67,96:163:99:2660,0,2021:127	0|0:113,0:113:99:0,340,4308:127
11	862652	.	T	C	14766.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28505621;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28505621" target="_blank">rs28505621</a>;ExAC.Info.AC=126167;ExAC.Info.AN=126458;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=283;ExAC.Info.AC_Hom=62164;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu75Leu/c.223T>C;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409531;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397404;SAVANT_GENE=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;SAVANT_INFO=+/22.7kb/9/1.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.166T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN4+c.166T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:862652">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1695,153,0:127	1|1:0,64:64:99:2260,192,0:127	1|1:0,55:55:99:1885,165,0:127
11	865655	.	T	C	119.51	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=399;ExAC.Info.AN=126110;ExAC.Info.AF=3.164e-03;ExAC.Info.AC_Het=317;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.490-39T>C;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409531;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397404;SAVANT_GENE=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;SAVANT_INFO=+/22.7kb/9/1.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.433-39T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN4+c.433-39T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:865655">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,12:41:26:26,0,502:5	0/1:46,12:58:4:4,0,1149:5	0/1:43,18:61:61:61,0,1013:5
11	866044	.	A	G	5865.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28457111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28457111" target="_blank">rs28457111</a>;ExAC.Info.AC=125296;ExAC.Info.AN=125630;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=266;ExAC.Info.AC_Hom=56039;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.705+43A>G;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409531;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397404;SAVANT_GENE=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;SAVANT_INFO=+/22.7kb/9/1.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.648+43A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN4+c.648+43A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:866044">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1115,93,0:62	1|1:0,23:23:69:852,69,0:62	1|1:0,21:21:63:730,63,0:62
11	866498	.	T	C	12570.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28663055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28663055" target="_blank">rs28663055</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.706-64T>C;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409531;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397404;SAVANT_GENE=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;SAVANT_INFO=+/22.7kb/9/1.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.649-64T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN4+c.649-64T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:866498">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1199,93,0:127	1|1:0,53:53:99:1972,159,0:127	1|1:0,45:45:99:2001,141,0:127
11	866499	.	G	A	1870.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34165342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34165342" target="_blank">rs34165342</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.706-63G>A;snpeff.Amino_Acid_length=257;snpeff.Gene_Name=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000409531;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397404;SAVANT_GENE=TSPAN4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN4" target="_blank">TSPAN4</a>;SAVANT_INFO=+/22.7kb/9/1.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.649-63G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN4+c.649-63G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:866499">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1144:89	0|0:52,0:52:99:0,156,1818:89	0|1:18,29:47:99:954,0,501:89
11	870446	.	G	A	2245.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=66;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6682;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6682" target="_blank">rs6682</a>;ExAC.Info.AC=66611;ExAC.Info.AN=126186;ExAC.Info.AF=0.528;ExAC.Info.AC_Het=28705;ExAC.Info.AC_Hom=17794;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala368Val/c.1103C>T;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=CHID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHID1" target="_blank">CHID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323541;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454838;SAVANT_GENE=CHID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHID1" target="_blank">CHID1</a>;SAVANT_INFO=-/37.1kb/13/3.4kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1088C>T_p.Ala363Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHID1+c.1088C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:870446">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,9:20:99:216,0,289:127	0/1:16,14:30:99:358,0,476:127	0/1:6,10:16:99:272,0,133:127
11	870524	.	G	A	538.8	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=35;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10466744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10466744" target="_blank">rs10466744</a>;ExAC.Info.AC=26594;ExAC.Info.AN=125054;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=15445;ExAC.Info.AC_Hom=2631;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1050-25C>T;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=CHID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHID1" target="_blank">CHID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323541;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454838;SAVANT_GENE=CHID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHID1" target="_blank">CHID1</a>;SAVANT_INFO=-/37.1kb/13/3.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1035-25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHID1+c.1035-25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:870524">View</a>	GT:AD:DP:GQ:PL:TP	0|0:13,0:13:39:0,39,446:20	0|1:6,9:15:99:288,0,166:20	0|0:7,0:7:21:0,21,253:20
11	900894	.	T	G	6804.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=67;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28454252;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28454252" target="_blank">rs28454252</a>;ExAC.Info.AC=125609;ExAC.Info.AN=126094;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=379;ExAC.Info.AC_Hom=57725;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.529+42A>C;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=CHID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHID1" target="_blank">CHID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323541;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454838;SAVANT_GENE=CHID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHID1" target="_blank">CHID1</a>;SAVANT_INFO=-/37.1kb/13/3.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.514+42A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHID1+c.514+42A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:900894">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,22:22:66:830,66,0:56	1|1:0,26:26:78:1002,78,0:56	1|1:0,19:19:57:698,57,0:56
11	900929	.	C	G	5653.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10794339;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794339" target="_blank">rs10794339</a>;ExAC.Info.AC=74638;ExAC.Info.AN=126464;ExAC.Info.AF=0.590;ExAC.Info.AC_Het=28579;ExAC.Info.AC_Hom=22165;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.529+7G>C;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=CHID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHID1" target="_blank">CHID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323541;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530G>C;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=CHID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHID1" target="_blank">CHID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323541;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454838;SAVANT_GENE=CHID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHID1" target="_blank">CHID1</a>;SAVANT_INFO=-/37.1kb/13/3.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.514+7G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHID1+c.514+7G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:900929">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,24:46:99:699,0,736:127	0/1:28,30:58:99:821,0,837:127	0/1:12,19:31:99:645,0,345:127
11	903070	.	G	C	34371.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28380110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28380110" target="_blank">rs28380110</a>;ExAC.Info.AC=126371;ExAC.Info.AN=126682;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=301;ExAC.Info.AC_Hom=62756;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtG;snpeff.Amino_Acid_Change=p.Val81Val/c.243C>G;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=CHID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHID1" target="_blank">CHID1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323541;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454838;SAVANT_GENE=CHID1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHID1" target="_blank">CHID1</a>;SAVANT_INFO=-/37.1kb/13/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.228C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHID1+c.228C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:903070">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4524,411,0:127	1|1:0,152:152:99:5154,456,0:127	1|1:0,124:124:99:4159,372,0:127
11	985547	.	C	T	16924.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10794358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794358" target="_blank">rs10794358</a>;ExAC.Info.AC=70529;ExAC.Info.AN=125434;ExAC.Info.AF=0.562;ExAC.Info.AC_Het=28158;ExAC.Info.AC_Hom=21070;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu310Leu/c.930C>T;snpeff.Amino_Acid_length=940;snpeff.Gene_Name=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332231;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448903;SAVANT_GENE=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;SAVANT_INFO=+/86.4kb/22/4.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.927C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP2A2+c.927C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:985547">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,99:100:99:3080,253,0:127	1|0:67,57:124:99:1546,0,2075:127	1|0:58,38:96:99:1016,0,1644:127
11	1003642	.	G	A	10333.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10902265;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902265" target="_blank">rs10902265</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2127-80G>A;snpeff.Amino_Acid_length=940;snpeff.Gene_Name=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332231;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448903;SAVANT_GENE=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;SAVANT_INFO=+/86.4kb/22/4.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2124-80G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP2A2+c.2124-80G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1003642">View</a>	GT:AD:DP:GQ:PL:TP	0/1:55,61:116:99:1459,0,1649:127	0/1:56,59:115:99:1587,0,1619:127	0/1:30,46:76:99:1293,0,852:127
11	1009307	.	C	T	4353.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11246379;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246379" target="_blank">rs11246379</a>;ExAC.Info.AC=8048;ExAC.Info.AN=125080;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=7302;ExAC.Info.AC_Hom=319;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2541-21C>T;snpeff.Amino_Acid_length=940;snpeff.Gene_Name=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332231;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448903;SAVANT_GENE=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;SAVANT_INFO=+/86.4kb/22/4.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2538-21C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP2A2+c.2538-21C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1009307">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,24:60:99:620,0,1078:127	1|0:41,34:75:99:965,0,1165:127	0|0:77,0:77:99:0,231,2576:127
11	1009890	.	T	C	4817.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11246380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246380" target="_blank">rs11246380</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2745+73T>C;snpeff.Amino_Acid_length=940;snpeff.Gene_Name=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332231;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448903;SAVANT_GENE=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;SAVANT_INFO=+/86.4kb/22/4.6kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2742+73T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP2A2+c.2742+73T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1009890">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,22:61:99:588,0,1181:127	0/1:34,18:52:99:465,0,964:127	0/1:18,25:43:99:718,0,529:127
11	1010649	.	C	T	1204.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72842410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72842410" target="_blank">rs72842410</a>;ExAC.Info.AC=15657;ExAC.Info.AN=120414;ExAC.Info.AF=0.130;ExAC.Info.AC_Het=6992;ExAC.Info.AC_Hom=1045;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=24;snpeff.Amino_Acid_Change=c.*24C>T;snpeff.Amino_Acid_length=940;snpeff.Gene_Name=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332231;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448903;SAVANT_GENE=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;SAVANT_INFO=+/86.4kb/22/4.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*24C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP2A2+c.*24C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1010649">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1760:127	0|0:62,0:62:99:0,186,1978:127	0|1:18,24:42:99:621,0,462:127
11	1011490	.	G	A	9110.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7950955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7950955" target="_blank">rs7950955</a>;ExAC.Info.AC=53866;ExAC.Info.AN=114732;ExAC.Info.AF=0.469;ExAC.Info.AC_Het=17460;ExAC.Info.AC_Hom=9121;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448903;SAVANT_GENE=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;SAVANT_INFO=+/86.4kb/22/4.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*865G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP2A2+c.*865G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1011490">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,44:92:99:1260,0,1357:127	0/1:55,47:102:99:1416,0,1655:127	0/1:53,39:92:99:1062,0,1680:127
11	1011597	.	G	A	7214.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61869001;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61869001" target="_blank">rs61869001</a>;ExAC.Info.AC=5810;ExAC.Info.AN=113104;ExAC.Info.AF=0.051;ExAC.Info.AC_Het=1474;ExAC.Info.AC_Hom=85;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000448903;SAVANT_GENE=AP2A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP2A2" target="_blank">AP2A2</a>;SAVANT_INFO=+/86.4kb/22/4.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*972G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP2A2+c.*972G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1011597">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,59:110:99:1588,0,1408:127	0|0:121,1:122:99:0,329,4247:127	1|0:65,52:117:99:1405,0,1955:127
11	1013987	.	G	A	2948.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=227;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10902268;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902268" target="_blank">rs10902268</a>;ExAC.Info.AC=14882;ExAC.Info.AN=123832;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=11365;ExAC.Info.AC_Hom=1200;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7054G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7054G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CTCK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7054G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CTCK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7054G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg2352Trp/c.7054C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.7054C>T_p.Arg2352Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.7054C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1013987">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1779:127	0|1:45,58:103:99:1493,0,1167:127	0|0:67,0:67:99:0,201,2282:127
11	1016609	.	C	G	690.95	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=295;MQ=67.84;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs73403291;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=73403291" target="_blank">rs73403291</a>;ExAC.Info.AC=10917;ExAC.Info.AN=126270;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=10022;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6192C>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6192C>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6192C>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atC;snpeff.Amino_Acid_Change=p.Met2064Ile/c.6192G>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.6192G>C_p.Met2064Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.6192G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1016609">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,4:85:99:0,137,2733:3	0|0:109,9:118:1:0,1,3765:3	0|1:80,12:92:99:148,0,2495:3
11	1016776	.	C	T	452.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=287;MQ=61.03;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs33988517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33988517" target="_blank">rs33988517</a>;ExAC.Info.AC=54364;ExAC.Info.AN=125990;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=58053;ExAC.Info.AC_Hom=5;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6025C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6025C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6025C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Att;snpeff.Amino_Acid_Change=p.Val2009Ile/c.6025G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.6025G>A_p.Val2009Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.6025G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1016776">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,1:98:99:0,250,3331:119	0|1:95,10:105:99:120,0,3013:119	0|1:76,8:84:99:126,0,2326:119
11	1016795	.	C	G	14.96	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=313;MQ=60.27;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs111397691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111397691" target="_blank">rs111397691</a>;ExAC.Info.AC=11076;ExAC.Info.AN=126630;ExAC.Info.AF=0.087;ExAC.Info.AC_Het=10703;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6006C>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caC;snpeff.Amino_Acid_Change=p.Gln2002His/c.6006G>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.6006G>C_p.Gln2002His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.6006G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1016795">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,1:104:99:0,288,4852:25	0|0:105,10:115:40:0,40,4565:25	0|1:82,12:94:26:26,0,3592:25
11	1017552	.	T	C	2008.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=704;MQ=67.32;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35868469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35868469" target="_blank">rs35868469</a>;ExAC.Info.AC=14506;ExAC.Info.AN=124718;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=14346;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[region_of_interest:Approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5249T>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5249T>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5249T>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5249T>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His1750Arg/c.5249A>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5249A>G_p.His1750Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.5249A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1017552">View</a>	GT:AD:DP:GQ:PL:TP	0|0:233,0:233:99:0,656,7591:127	0|0:255,0:255:99:0,715,8604:127	0|1:174,42:216:99:1023,0,5407:127
11	1017596	.	T	G	1880.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1198;MQ=67.62;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201522029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201522029" target="_blank">rs201522029</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=15923;ExAC.Info.AN=124650;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=15848;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5205T>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5205T>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5205T>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5205T>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5205T>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caA/caC;snpeff.Amino_Acid_Change=p.Gln1735His/c.5205A>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5205A>C_p.Gln1735His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.5205A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1017596">View</a>	GT:AD:DP:GQ:PL:TP	0|0:384,0:384:99:0,1052,11004:127	0|0:436,0:436:99:0,1203,13146:127	0|1:313,65:378:99:959,0,8990:127
11	1017655	.	G	A	2340.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1436;MQ=68.40;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201234174;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201234174" target="_blank">rs201234174</a>;ExAC.Info.AC=14333;ExAC.Info.AN=126362;ExAC.Info.AF=0.113;ExAC.Info.AC_Het=14259;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5146G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5146G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5146G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5146G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5146G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro1716Ser/c.5146C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5146C>T_p.Pro1716Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.5146C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1017655">View</a>	GT:AD:DP:GQ:PL:TP	0|0:475,0:475:99:0,1327,14886:127	0|0:517,0:517:99:0,1451,16908:127	0|1:372,72:444:99:1189,0,10548:127
11	1017695	.	G	A	1790.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1197;MQ=69.15;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ExAC.Info.AC=63;ExAC.Info.AN=126492;ExAC.Info.AF=4.981e-04;ExAC.Info.AC_Het=81;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5106G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5106G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5106G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5106G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5106G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His1702His/c.5106C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5106C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.5106C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1017695">View</a>	GT:AD:DP:GQ:PL:TP	0|0:397,0:397:99:0,1104,12793:127	0|1:368,62:430:99:933,0,10639:127	0|0:370,0:370:99:0,1048,12996:127
11	1017773	.	G	A	3395.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=303;MQ=69.09;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs57384288;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57384288" target="_blank">rs57384288</a>;cosmic68.Histology_subtype=serous_carcinoma;ExAC.Info.AC=33083;ExAC.Info.AN=126508;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=32896;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5028G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5028G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5028G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5028G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5028G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser1676Ser/c.5028C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5028C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.5028C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1017773">View</a>	GT:AD:DP:GQ:PL:TP	0/1:76,18:94:99:492,0,3054:127	0/1:97,15:112:99:326,0,3976:127	0/1:76,21:97:99:629,0,3093:127
11	1017783	.	A	G	3399.34	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=243;MQ=69.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs36101709;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36101709" target="_blank">rs36101709</a>;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5018A>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5018A>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5018A>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5018A>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5018A>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu1673Pro/c.5018T>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5018T>C_p.Leu1673Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.5018T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1017783">View</a>	GT:AD:DP:GQ:PL	0/1:60,14:74:99:395,0,2612	./0:62,12:92:99:432,171,3028	0/1:58,19:77:99:652,0,2440
11	1017783	.	A	C	3399.34	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=243;MQ=69.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5018A>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5018A>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5018A>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5018A>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5018A>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cGg;snpeff.Amino_Acid_Change=p.Leu1673Arg/c.5018T>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5018T>G_p.Leu1673Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.5018T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1017783">View</a>	GT:AD:DP:GQ:PL	./0:60,0:74:99:395,576,2750	0/1:62,18:92:99:432,0,2273	./0:58,0:77:99:652,827,2996
11	1017883	.	C	A	35.27	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=30;MQ=65.81;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs79644784;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79644784" target="_blank">rs79644784</a>;ExAC.Info.AC=3202;ExAC.Info.AN=126504;ExAC.Info.AF=0.025;ExAC.Info.AC_Het=5451;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4918C>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4918C>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4918C>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4918C>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Approximate_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4918C>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4918C>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4918C>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4918C>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Tcc;snpeff.Amino_Acid_Change=p.Ala1640Ser/c.4918G>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4918G>T_p.Ala1640Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.4918G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1017883">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,2:7:46:46,0,173:3	0|0:12,1:13:2:0,2,439:3	1|0:9,1:10:4:4,0,323:3
11	1019375	.	C	T	28223.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs9704308;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9704308" target="_blank">rs9704308</a>;ExAC.Info.AC=115208;ExAC.Info.AN=125792;ExAC.Info.AF=0.916;ExAC.Info.AC_Het=9402;ExAC.Info.AC_Hom=52297;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3930C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3930C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3930C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3930C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3930C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Thr-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3930C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala1310Ala/c.3930G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.3930G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.3930G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1019375">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:4048,336,0:127	1|1:0,119:119:99:4315,358,0:127	1|1:0,77:77:99:2828,231,0:127
11	1020778	.	C	T	1610.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=70;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11602663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11602663" target="_blank">rs11602663</a>;ExAC.Info.AC=18580;ExAC.Info.AN=125636;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=14975;ExAC.Info.AC_Hom=1698;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3590-44G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3590-44G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.3590-44G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1020778">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,9:23:99:257,0,412:86	0|0:29,0:29:87:0,87,1106:86	1|0:6,12:18:99:324,0,151:86
11	1023496	.	G	C	4089.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12793770;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12793770" target="_blank">rs12793770</a>;ExAC.Info.AC=6755;ExAC.Info.AN=121950;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=2850;ExAC.Info.AC_Hom=182;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3526+13C>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3526+13C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.3526+13C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1023496">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,29:60:99:774,0,857:127	1|0:31,34:65:99:922,0,883:127	0|0:70,0:70:99:0,210,2362:127
11	1025987	.	A	G	7201.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12805673;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12805673" target="_blank">rs12805673</a>;ExAC.Info.AC=8875;ExAC.Info.AN=123334;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=5085;ExAC.Info.AC_Hom=398;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2688+13T>C;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2689A>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2689A>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2689A>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2689A>G;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2688+13T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.2688+13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1025987">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,33:69:99:1024,0,1036:127	1|0:67,53:120:99:1604,0,1952:127	0|0:79,0:79:99:0,238,2837:127
11	1026048	.	G	A	6506.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs55965773;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55965773" target="_blank">rs55965773</a>;ExAC.Info.AC=16341;ExAC.Info.AN=124054;ExAC.Info.AF=0.132;ExAC.Info.AC_Het=9965;ExAC.Info.AC_Hom=1008;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2640G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2640G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2640G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2640G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp880Asp/c.2640C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2640C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.2640C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1026048">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,42:84:99:1146,0,1279:127	0|0:115,0:115:99:0,345,4162:127	1|0:48,41:89:99:1172,0,1422:127
11	1026084	.	G	A	7428.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12801568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12801568" target="_blank">rs12801568</a>;ExAC.Info.AC=7309;ExAC.Info.AN=124476;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=5416;ExAC.Info.AC_Hom=223;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2604G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2604G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2604G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2604G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys868Cys/c.2604C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2604C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.2604C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1026084">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,48:88:99:1160,0,1060:127	1|0:52,53:105:99:1346,0,1513:127	0|0:80,0:80:99:0,240,2780:127
11	1027221	.	C	T	12732.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=539;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10902271;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10902271" target="_blank">rs10902271</a>;ExAC.Info.AC=17937;ExAC.Info.AN=123878;ExAC.Info.AF=0.145;ExAC.Info.AC_Het=14498;ExAC.Info.AC_Hom=1596;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2232-28G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2232-28G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.2232-28G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1027221">View</a>	GT:AD:DP:GQ:PL:TP	1|0:83,96:179:99:2651,0,2309:127	0|0:203,0:203:99:0,609,6836:127	1|0:69,88:157:99:2474,0,1885:127
11	1027811	.	C	T	5452.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7481521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7481521" target="_blank">rs7481521</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=59897;ExAC.Info.AN=123614;ExAC.Info.AF=0.485;ExAC.Info.AC_Het=27139;ExAC.Info.AC_Hom=14577;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val619Met/c.1855G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1855G>A_p.Val619Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.1855G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1027811">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,31:59:99:819,0,755:127	0/1:30,24:54:99:720,0,867:127	0/1:29,22:51:99:649,0,814:127
11	1028379	.	C	T	7950.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=774;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs116256283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=116256283" target="_blank">rs116256283</a>;ExAC.Info.AC=986;ExAC.Info.AN=124896;ExAC.Info.AF=7.895e-03;ExAC.Info.AC_Het=955;ExAC.Info.AC_Hom=9;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1600C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly534Ser/c.1600G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1600G>A_p.Gly534Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.1600G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1028379">View</a>	GT:AD:DP:GQ:PL:TP	0|0:260,0:260:99:0,781,8444:127	0|1:156,143:299:99:3994,0,4215:127	0|0:215,0:215:99:0,646,7011:127
11	1029320	.	C	T	3127.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11604757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11604757" target="_blank">rs11604757</a>;ExAC.Info.AC=9882;ExAC.Info.AN=123328;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=7779;ExAC.Info.AC_Hom=468;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly395Arg/c.1183G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1183G>A_p.Gly395Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.1183G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1029320">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,19:37:99:517,0,505:127	0|0:47,0:47:99:0,141,1595:127	1|0:29,13:42:99:332,0,848:127
11	1031058	.	T	TG	2148.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=107;MQ=70.07;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs71464128;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71464128" target="_blank">rs71464128</a>;ExAC.Info.AC=7390;ExAC.Info.AN=118648;ExAC.Info.AF=0.062;ExAC.Info.AC_Het=2911;ExAC.Info.AC_Hom=276;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.575-2_575-3insC;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575_576insG;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575_576insG;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575_576insG;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575_576insG;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575_576insG;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.575_576insC;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.575-3dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.575-3dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1031058">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,12:27:99:300,0,409:84	1|0:37,15:52:99:324,0,1052:84	0|0:28,0:28:84:0,84,940:84
11	1031935	.	G	T	5124.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72842417;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72842417" target="_blank">rs72842417</a>;ExAC.Info.AC=2;ExAC.Info.AN=125328;ExAC.Info.AF=1.596e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.234G>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.234G>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.234G>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.234G>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.234G>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcA;snpeff.Amino_Acid_Change=p.Ala78Ala/c.234C>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.234C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.234C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1031935">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4807:127	0|1:88,90:178:99:2581,0,2748:127	0|0:119,0:119:99:0,357,4164:127
11	1036573	.	G	A	3212.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56139616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56139616" target="_blank">rs56139616</a>;ExAC.Info.AC=3319;ExAC.Info.AN=50844;ExAC.Info.AF=0.065;ExAC.Info.AC_Het=1991;ExAC.Info.AC_Hom=177;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.52+31C>T;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.53G>A;snpeff.Amino_Acid_length=2439;snpeff.Gene_Name=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000421673;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000421673;SAVANT_GENE=MUC6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC6" target="_blank">MUC6</a>;SAVANT_INFO=-/23.9kb/33/8.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.52+31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC6+c.52+31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1036573">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,32:50:99:906,0,437:127	0|0:65,0:65:99:0,195,2211:127	1|0:36,17:53:99:428,0,998:127
11	1075850	.	G	A	5614.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11825969;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11825969" target="_blank">rs11825969</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=18784;ExAC.Info.AN=121708;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=11795;ExAC.Info.AC_Hom=1552;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu92Glu/c.276G>A;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.276G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.276G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1075850">View</a>	GT:AD:DP:GQ:PL:TP	0|0:138,0:138:99:0,415,4943:127	0|1:73,96:169:99:2826,0,2193:127	0|0:138,0:138:99:0,414,4714:127
11	1075920	.	G	A	3496.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11825977;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11825977" target="_blank">rs11825977</a>;ExAC.Info.AC=17783;ExAC.Info.AN=119870;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=9235;ExAC.Info.AC_Hom=1298;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346G>A;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val116Met/c.346G>A;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.346G>A_p.Val116Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.346G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1075920">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2783:127	0|1:48,62:110:99:1767,0,1519:127	0|0:83,0:83:99:0,250,3293:127
11	1078393	.	T	C	4842.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=393;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7104590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7104590" target="_blank">rs7104590</a>;ExAC.Info.AC=40611;ExAC.Info.AN=122668;ExAC.Info.AF=0.331;ExAC.Info.AC_Het=24314;ExAC.Info.AC_Hom=8008;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.663+17T>C;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.663+17T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.663+17T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1078393">View</a>	GT:AD:DP:GQ:PL:TP	0|0:139,0:139:99:0,418,4807:127	0|1:77,87:164:99:2440,0,2250:127	0|0:90,0:90:99:0,271,3326:127
11	1078536	.	C	T	4868.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61732147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61732147" target="_blank">rs61732147</a>;ExAC.Info.AC=644;ExAC.Info.AN=115030;ExAC.Info.AF=5.599e-03;ExAC.Info.AC_Het=314;ExAC.Info.AC_Hom=2;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg248Arg/c.744C>T;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.744C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.744C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1078536">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,28:53:99:840,0,770:127	1|0:19,31:50:99:867,0,579:127	0|0:43,0:43:99:0,129,1487:127
11	1082582	.	G	A	3340.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7952257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7952257" target="_blank">rs7952257</a>;ExAC.Info.AC=9286;ExAC.Info.AN=124646;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=8264;ExAC.Info.AC_Hom=468;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1837-6G>A;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1837G>A;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1837-6G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.1837-6G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1082582">View</a>	GT:AD:DP:GQ:PL:TP	0|0:131,0:131:99:0,393,4322:127	0|1:64,64:128:99:1689,0,1795:127	0|0:107,0:107:99:0,321,3573:127
11	1086163	.	C	A	2072.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7926689;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7926689" target="_blank">rs7926689</a>;ExAC.Info.AC=22575;ExAC.Info.AN=120844;ExAC.Info.AF=0.187;ExAC.Info.AC_Het=11533;ExAC.Info.AC_Hom=2069;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2955+48C>A;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2955+48C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.2955+48C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1086163">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1869:118	0|1:38,37:75:99:1055,0,1126:118	0|0:40,0:40:99:0,119,1481:118
11	1093430	.	C	A	3946.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=172;MQ=62.19;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199573018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199573018" target="_blank">rs199573018</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=6639;ExAC.Info.AN=72740;ExAC.Info.AF=0.091;ExAC.Info.AC_Het=6472;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aAc;snpeff.Amino_Acid_Change=p.Thr1750Asn/c.5249C>A;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.5249C>A_p.Thr1750Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.5249C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1093430">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,20:59:99:478,0,1200:127	0/1:40,35:75:99:891,0,1214:127	0/1:24,14:38:99:336,0,788:127
11	1093710	.	C	G	6692.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=359;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7944723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7944723" target="_blank">rs7944723</a>;ExAC.Info.AC=103290;ExAC.Info.AN=125272;ExAC.Info.AF=0.825;ExAC.Info.AC_Het=17177;ExAC.Info.AC_Hom=42696;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro1843Pro/c.5529C>G;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=Ex30;SAVANT_HGVS=c.5529C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.5529C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1093710">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,352,4130:127	0|1:74,64:138:99:1935,0,2402:127	0|1:53,51:104:99:1431,0,1470:127
11	1094753	.	A	C	1482.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=205;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10794292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10794292" target="_blank">rs10794292</a>;ExAC.Info.AC=83222;ExAC.Info.AN=124850;ExAC.Info.AF=0.667;ExAC.Info.AC_Het=24534;ExAC.Info.AC_Hom=28930;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro1947Pro/c.5841A>C;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5841A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.5841A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1094753">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2092:127	0|0:79,0:79:99:0,237,2723:127	0|1:35,27:62:99:760,0,950:127
11	1096494	.	T	C	4444.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs6421972;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6421972" target="_blank">rs6421972</a>;ExAC.Info.AC=83106;ExAC.Info.AN=124490;ExAC.Info.AF=0.668;ExAC.Info.AC_Het=24247;ExAC.Info.AC_Hom=28856;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys2173Cys/c.6519T>C;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.6519T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.6519T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1096494">View</a>	GT:AD:DP:GQ:PL:TP	0|0:143,0:143:99:0,430,4543:127	0|0:205,0:205:99:0,616,7092:127	0|1:70,73:143:99:2241,0,1932:127
11	1098637	.	A	G	1512.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12418069;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12418069" target="_blank">rs12418069</a>;ExAC.Info.AC=85246;ExAC.Info.AN=121978;ExAC.Info.AF=0.699;ExAC.Info.AC_Het=20759;ExAC.Info.AC_Hom=26821;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7011-4A>G;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7011A>G;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=In36/37;SAVANT_HGVS=c.7011-4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.7011-4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1098637">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,291,3137:127	0|0:103,1:104:99:0,303,3468:127	0|1:48,30:78:99:775,0,1430:127
11	1101649	.	T	C	2146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=270;MQ=69.72;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7480563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7480563" target="_blank">rs7480563</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=72219;ExAC.Info.AN=124800;ExAC.Info.AF=0.579;ExAC.Info.AC_Het=27526;ExAC.Info.AC_Hom=21924;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro2554Pro/c.7662T>C;snpeff.Amino_Acid_length=2817;snpeff.Gene_Name=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000441003;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000441003;SAVANT_GENE=MUC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC2" target="_blank">MUC2</a>;SAVANT_INFO=+/29.5kb/49/8.6kb;SAVANT_LOC=Ex42;SAVANT_HGVS=c.7662T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC2+c.7662T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1101649">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,299,3134:127	0|1:45,43:88:99:1092,0,1227:127	0|0:82,0:82:99:0,246,2635:127
11	1151695	.	C	T	2348.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs28737416;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28737416" target="_blank">rs28737416</a>;ExAC.Info.AC=29165;ExAC.Info.AN=118080;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=18257;ExAC.Info.AC_Hom=3693;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His23His/c.69C>T;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534821;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000534821;SAVANT_GENE=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=+/10.8kb/15/1.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.69C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+c.69C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1151695">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,32:47:99:838,0,352:127	0|0:46,0:46:99:0,138,1603:127	1|0:22,17:39:99:468,0,662:127
11	1155146	.	G	T	7180.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55861305;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55861305" target="_blank">rs55861305</a>;ExAC.Info.AC=2306;ExAC.Info.AN=118340;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2100;ExAC.Info.AC_Hom=74;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.154G>T;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Ttc;snpeff.Amino_Acid_Change=p.Val52Phe/c.154G>T;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000534821;SAVANT_GENE=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=+/10.8kb/15/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.154G>T_p.Val52Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+c.154G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1155146">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,56:116:99:1429,0,1543:127	1|0:68,50:118:99:1308,0,1974:127	0|0:75,0:75:99:0,225,2567:127
11	1155265	.	G	A	6185.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35396393;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35396393" target="_blank">rs35396393</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.211+62G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000534821;SAVANT_GENE=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=+/10.8kb/15/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.211+62G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+c.211+62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1155265">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,33:63:99:1047,0,842:127	1|0:54,44:98:99:1263,0,1669:127	0|0:71,0:71:99:0,213,2376:127
11	1156646	.	C	G	4773.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35783651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35783651" target="_blank">rs35783651</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=17851;ExAC.Info.AN=124278;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=14244;ExAC.Info.AC_Hom=1595;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agC/agG;snpeff.Amino_Acid_Change=p.Ser221Arg/c.663C>G;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534821;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000534821;SAVANT_GENE=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=+/10.8kb/15/1.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.663C>G_p.Ser221Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+c.663C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1156646">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,29:47:99:979,0,496:127	1|0:49,32:81:99:968,0,1472:127	0|0:71,0:71:99:0,213,2507:127
11	1158073	.	T	C	9462.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs28691231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28691231" target="_blank">rs28691231</a>;ExAC.Info.AC=101651;ExAC.Info.AN=119732;ExAC.Info.AF=0.849;ExAC.Info.AC_Het=13687;ExAC.Info.AC_Hom=41780;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys351Cys/c.1053T>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534821;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000534821;SAVANT_GENE=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=+/10.8kb/15/1.9kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1053T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+c.1053T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1158073">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,38:61:99:1114,0,617:127	0|1:28,36:64:99:1131,0,805:127	1|1:0,55:55:99:1850,165,0:127
11	1161315	.	T	C	26160.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28403537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28403537" target="_blank">rs28403537</a>;ExAC.Info.AC=56256;ExAC.Info.AN=60306;ExAC.Info.AF=0.933;ExAC.Info.AC_Het=903;ExAC.Info.AC_Hom=8469;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val497Ala/c.1490T>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534821;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000534821;SAVANT_GENE=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=+/10.8kb/15/1.9kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1490T>C_p.Val497Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+c.1490T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1161315">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:3009,252,0:127	1|1:0,125:125:99:4380,375,0:127	1|1:0,89:89:99:3054,267,0:127
11	1161335	.	T	G	6263.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs28663568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28663568" target="_blank">rs28663568</a>;ExAC.Info.AC=11299;ExAC.Info.AN=57948;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=3609;ExAC.Info.AC_Hom=859;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1497+13T>G;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534821;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000534821;SAVANT_GENE=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=+/10.8kb/15/1.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1497+13T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+c.1497+13T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1161335">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,42:88:99:1274,0,1323:127	0|0:139,0:139:99:0,418,4693:127	1|0:53,43:96:99:1113,0,1579:127
11	1161935	.	C	A	18002.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=792;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs34974357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34974357" target="_blank">rs34974357</a>;ExAC.Info.AC=17254;ExAC.Info.AN=118684;ExAC.Info.AF=0.145;ExAC.Info.AC_Het=13909;ExAC.Info.AC_Hom=1591;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1568-42C>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534821;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_INCOMPLETE;TYPE=SNP;SAVANT_ENST=ENST00000534821;SAVANT_GENE=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=+/10.8kb/15/1.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1568-42C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+c.1568-42C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1161935">View</a>	GT:AD:DP:GQ:PL:TP	0|1:123,118:241:99:3145,0,3523:127	1|0:138,168:306:99:4500,0,3993:127	0|0:245,0:245:99:0,736,8726:127
11	1213142	.	C	G	2722.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=416;MQ=67.28;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs200544156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200544156" target="_blank">rs200544156</a>;ExAC.Info.AC=7302;ExAC.Info.AN=119142;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=6841;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1213142">View</a>	GT:AD:DP:GQ:PL:TP	0/1:119,10:129:68:68,0,14481:68	0/1:136,16:152:99:286,0,16053:68	0/1:114,21:135:99:486,0,14074:68
11	1213155	.	C	T	793.0	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=394;MQ=68.05;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs77137100;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77137100" target="_blank">rs77137100</a>;ExAC.Info.AC=4495;ExAC.Info.AN=118940;ExAC.Info.AF=0.038;ExAC.Info.AC_Het=4389;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1213155">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,5:133:99:0,142,15224:42	0|1:124,11:135:42:42,0,15518:42	0|1:113,13:126:99:173,0,13823:42
11	1213405	.	G	A	1580.06	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=701;MQ=65.97;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs67262263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67262263" target="_blank">rs67262263</a>;ExAC.Info.AC=58034;ExAC.Info.AN=121008;ExAC.Info.AF=0.480;ExAC.Info.AC_Het=56930;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1213405">View</a>	GT:AD:DP:GQ:PL:TP	0/1:203,31:234:99:383,0,7655:17	0/1:248,36:284:99:475,0,9757:17	0/1:167,16:183:17:17,0,6467:17
11	1213424	.	A	G	18766.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=593;MQ=66.08;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61867531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61867531" target="_blank">rs61867531</a>;ExAC.Info.AC=59834;ExAC.Info.AN=119644;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=57921;ExAC.Info.AC_Hom=46;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1213424">View</a>	GT:AD:DP:GQ:PL:TP	0/1:126,74:200:99:2816,0,4886:127	0/1:127,111:238:99:4288,0,4864:127	0/1:106,49:155:99:1708,0,4111:127
11	1213428	.	T	C	10444.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=567;MQ=66.39;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61867532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61867532" target="_blank">rs61867532</a>;ExAC.Info.AC=59447;ExAC.Info.AN=120180;ExAC.Info.AF=0.495;ExAC.Info.AC_Het=57951;ExAC.Info.AC_Hom=14;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1213428">View</a>	GT:AD:DP:GQ:PL:TP	0/1:124,68:192:99:2092,0,5065:127	0/1:169,63:232:99:1844,0,6720:127	0/1:103,40:143:99:1194,0,4378:127
11	1213440	.	T	C	13403.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=519;MQ=66.52;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61867533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61867533" target="_blank">rs61867533</a>;ExAC.Info.AC=60595;ExAC.Info.AN=120494;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=57880;ExAC.Info.AC_Hom=113;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1213440">View</a>	GT:AD:DP:GQ:PL:TP	0/1:125,53:178:99:1956,0,4938:127	0/1:127,87:214:99:3396,0,4951:127	0/1:95,32:127:99:1112,0,3941:127
11	1213461	.	T	C	228.26	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=465;MQ=66.90;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61867534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61867534" target="_blank">rs61867534</a>;ExAC.Info.AC=957;ExAC.Info.AN=121092;ExAC.Info.AF=7.903e-03;ExAC.Info.AC_Het=57852;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1213461">View</a>	GT:AD:DP:GQ:PL:TP	0|1:148,16:164:99:128,0,5803:81	1|0:178,14:192:2:2,0,6794:81	0|0:104,5:109:99:0,157,4327:81
11	1213665	.	G	A	17716.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=790;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72846343;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72846343" target="_blank">rs72846343</a>;ExAC.Info.AC=765;ExAC.Info.AN=119836;ExAC.Info.AF=6.384e-03;ExAC.Info.AC_Het=737;ExAC.Info.AC_Hom=10;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1213665">View</a>	GT:AD:DP:GQ:PL:TP	0|1:133,112:245:99:2934,0,3971:127	1|0:146,152:298:99:4396,0,4500:127	0|0:247,0:247:99:0,741,8804:127
11	1215580	.	A	G	20758.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1132433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1132433" target="_blank">rs1132433</a>;ExAC.Info.AC=40498;ExAC.Info.AN=110962;ExAC.Info.AF=0.365;ExAC.Info.AC_Het=12148;ExAC.Info.AC_Hom=4172;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1215580">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:3102,265,0:127	1|0:68,64:132:99:1873,0,1952:127	1|1:0,81:81:99:2723,243,0:127
11	1215698	.	A	G	26146.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28452143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28452143" target="_blank">rs28452143</a>;ExAC.Info.AC=67167;ExAC.Info.AN=115308;ExAC.Info.AF=0.583;ExAC.Info.AC_Het=21959;ExAC.Info.AC_Hom=17107;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1215698">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3516,321,0:127	1|1:0,121:121:99:4112,363,0:127	1|1:0,102:102:99:3371,306,0:127
11	1216316	.	G	GC	19915.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs58550179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58550179" target="_blank">rs58550179</a>;ExAC.Info.AC=99414;ExAC.Info.AN=99582;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=16618;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1216316">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2972,205,0:127	1|1:0,63:63:99:2882,199,0:127	1|1:0,41:41:99:1860,129,0:127
11	1216333	.	TA	T	18945.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs60138698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60138698" target="_blank">rs60138698</a>;ExAC.Info.AC=108093;ExAC.Info.AN=108168;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=17;ExAC.Info.AC_Hom=33073;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1216333">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2832,193,0:116	1|1:0,60:60:99:2816,193,0:116	1|1:0,38:38:99:1719,117,0:116
11	1216440	.	G	C	2994.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs28415193;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28415193" target="_blank">rs28415193</a>;ExAC.Info.AC=66276;ExAC.Info.AN=115826;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=26313;ExAC.Info.AC_Hom=19482;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1216440">View</a>	GT:AD:DP:GQ:PL:TP	0|0:78,0:78:99:0,231,4255:127	0|1:46,45:91:99:1516,0,2043:127	0|0:73,0:73:99:0,222,3913:127
11	1216491	.	G	C	2410.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=235;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1132434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1132434" target="_blank">rs1132434</a>;ExAC.Info.AC=67781;ExAC.Info.AN=117468;ExAC.Info.AF=0.577;ExAC.Info.AC_Het=26726;ExAC.Info.AC_Hom=19830;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1216491">View</a>	GT:AD:DP:GQ:PL:TP	0|0:86,0:86:99:0,261,4548:127	0|1:47,37:84:99:1223,0,2223:127	0|0:65,0:65:99:0,205,3832:127
11	1217084	.	T	C	12950.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs28652890;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28652890" target="_blank">rs28652890</a>;ExAC.Info.AC=47439;ExAC.Info.AN=117252;ExAC.Info.AF=0.405;ExAC.Info.AC_Het=26325;ExAC.Info.AC_Hom=9587;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1217084">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2166,192,0:104	1|0:39,46:85:99:1414,0,1067:104	1|1:0,35:35:99:1240,105,0:104
11	1217228	.	T	C	22656.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs28592983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28592983" target="_blank">rs28592983</a>;ExAC.Info.AC=71009;ExAC.Info.AN=117044;ExAC.Info.AF=0.607;ExAC.Info.AC_Het=25133;ExAC.Info.AC_Hom=21949;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1217228">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,91:92:99:3028,241,0:127	1|1:0,110:110:99:3806,331,0:127	1|1:0,83:83:99:2635,249,0:127
11	1218128	.	G	A	17428.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs28503875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28503875" target="_blank">rs28503875</a>;ExAC.Info.AC=47718;ExAC.Info.AN=115482;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=25677;ExAC.Info.AC_Hom=9814;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1218128">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2686,246,0:127	1|0:52,50:102:99:1337,0,1406:127	1|1:0,96:96:99:3280,288,0:127
11	1218143	.	A	C	2768.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs28515631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28515631" target="_blank">rs28515631</a>;ExAC.Info.AC=65842;ExAC.Info.AN=115260;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=25193;ExAC.Info.AC_Hom=18079;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1218143">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2243:127	0|1:46,48:94:99:1403,0,1253:127	0|0:82,0:82:99:0,246,2783:127
11	1218708	.	C	T	421.0	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=13;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35779873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35779873" target="_blank">rs35779873</a>;ExAC.Info.AC=11366;ExAC.Info.AN=110626;ExAC.Info.AF=0.103;ExAC.Info.AC_Het=3560;ExAC.Info.AC_Hom=344;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1218708">View</a>	GT:AD:DP:GQ:PL:TP	0|1:0,4:4:0:132,12,0:6	1|0:1,2:3:35:68,0,35:6	0|0:6,0:6:18:0,18,245:6
11	1219151	.	C	G	1175.05	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=43;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35915689;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35915689" target="_blank">rs35915689</a>;ExAC.Info.AC=12725;ExAC.Info.AN=109058;ExAC.Info.AF=0.117;ExAC.Info.AC_Het=6332;ExAC.Info.AC_Hom=652;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1219151">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,9:19:99:256,0,313:27	1|0:8,7:15:99:220,0,274:27	0|0:9,0:9:27:0,27,337:27
11	1219632	.	G	A	8701.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2075843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075843" target="_blank">rs2075843</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1219632">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,30:76:99:782,0,1417:127	0|0:65,0:65:99:0,195,2230:127	1|1:2,84:86:99:2763,209,0:127
11	1220171	.	C	T	10414.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs34831688;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34831688" target="_blank">rs34831688</a>;ExAC.Info.AC=16628;ExAC.Info.AN=117108;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=13024;ExAC.Info.AC_Hom=1420;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1220171">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,58:108:99:1592,0,1494:127	1|0:69,85:154:99:2401,0,1986:127	0|0:125,0:125:99:0,376,4336:127
11	1220760	.	T	C	9059.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs28514396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28514396" target="_blank">rs28514396</a>;ExAC.Info.AC=19494;ExAC.Info.AN=72192;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=3266;ExAC.Info.AC_Hom=1308;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1220760">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1138,96,0:95	1|0:23,14:37:99:364,0,716:95	1|1:0,44:44:99:1555,132,0:95
11	1220997	.	G	A	9055.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs28457780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28457780" target="_blank">rs28457780</a>;ExAC.Info.AC=24529;ExAC.Info.AN=109562;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=6796;ExAC.Info.AC_Hom=1686;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1220997">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,41:90:99:1007,0,1569:127	0|0:121,0:121:99:0,363,4633:127	1|1:0,84:84:99:2859,252,0:127
11	1221038	.	C	T	13665.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs28439383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28439383" target="_blank">rs28439383</a>;ExAC.Info.AC=27917;ExAC.Info.AN=114670;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=12291;ExAC.Info.AC_Hom=2662;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1221038">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,59:138:99:1493,0,2144:127	0|0:195,1:196:99:0,579,7068:127	1|1:0,111:111:99:3837,334,0:127
11	1221817	.	G	C	2408.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1132440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1132440" target="_blank">rs1132440</a>;ExAC.Info.AC=65978;ExAC.Info.AN=115944;ExAC.Info.AF=0.569;ExAC.Info.AC_Het=26533;ExAC.Info.AC_Hom=18984;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1221817">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,1:64:99:0,182,2338:127	0|1:45,43:88:99:1223,0,1278:127	0|0:58,0:58:99:0,174,2131:127
11	1221985	.	C	T	5413.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3087562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3087562" target="_blank">rs3087562</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MUC5AC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5AC" target="_blank">MUC5AC</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5AC+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1221985">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,37:65:99:1105,0,763:127	1|0:24,37:61:99:1049,0,552:127	0|0:56,0:56:99:0,168,1835:127
11	1246941	.	A	G	5274.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2672785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2672785" target="_blank">rs2672785</a>;ExAC.Info.AC=31575;ExAC.Info.AN=123912;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=20586;ExAC.Info.AC_Hom=3728;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu34Gly/c.101A>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.101A>G_p.Glu34Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.101A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1246941">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,29:62:99:838,0,842:127	0|0:75,0:75:99:0,225,2587:127	1|0:35,34:69:99:980,0,1090:127
11	1248491	.	T	G	23402.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs908223;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=908223" target="_blank">rs908223</a>;ExAC.Info.AC=121872;ExAC.Info.AN=123288;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1099;ExAC.Info.AC_Hom=52939;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.577-47T>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.577-47T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.577-47T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1248491">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2879,229,0:127	1|1:0,115:115:99:4150,345,0:127	1|1:0,73:73:99:2719,219,0:127
11	1248960	.	G	A	7576.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=336;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2075855;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075855" target="_blank">rs2075855</a>;ExAC.Info.AC=5031;ExAC.Info.AN=111672;ExAC.Info.AF=0.045;ExAC.Info.AC_Het=1926;ExAC.Info.AC_Hom=95;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr241Thr/c.723G>A;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.723G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.723G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1248960">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,48:94:99:1406,0,1244:127	0|0:151,0:151:99:0,453,5038:127	1|0:49,42:91:99:1213,0,1394:127
11	1250384	.	A	G	4952.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2471912;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2471912" target="_blank">rs2471912</a>;ExAC.Info.AC=57124;ExAC.Info.AN=122132;ExAC.Info.AF=0.468;ExAC.Info.AC_Het=20333;ExAC.Info.AC_Hom=10030;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.977-16A>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.977-16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.977-16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1250384">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,34:56:99:1068,0,574:127	0|0:59,0:59:99:0,177,2027:127	1|0:25,27:52:99:902,0,750:127
11	1251390	.	G	A	4410.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=587;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs56118514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56118514" target="_blank">rs56118514</a>;ExAC.Info.AC=1008;ExAC.Info.AN=124712;ExAC.Info.AF=8.083e-03;ExAC.Info.AC_Het=966;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1368+17G>A;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1359+17G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.1359+17G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1251390">View</a>	GT:AD:DP:GQ:PL:TP	0|0:210,0:210:99:0,631,7007:127	0|0:207,0:207:99:0,622,7062:127	0|1:87,83:170:99:2224,0,2475:127
11	1252708	.	G	C	13937.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=667;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2735709;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2735709" target="_blank">rs2735709</a>;ExAC.Info.AC=66033;ExAC.Info.AN=124076;ExAC.Info.AF=0.532;ExAC.Info.AC_Het=28945;ExAC.Info.AC_Hom=16337;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu535Leu/c.1605G>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1596G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.1596G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1252708">View</a>	GT:AD:DP:GQ:PL:TP	1|0:121,109:230:99:2929,0,3209:127	0|0:248,1:249:99:0,738,8558:127	1|0:103,85:188:99:2129,0,2721:127
11	1253856	.	T	C	6808.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1318321;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1318321" target="_blank">rs1318321</a>;ExAC.Info.AC=57978;ExAC.Info.AN=123190;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=28577;ExAC.Info.AC_Hom=8773;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1948-18T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1939-18T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.1939-18T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1253856">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,41:107:99:1059,0,1944:127	0|0:106,0:106:99:0,317,3647:127	1|0:37,40:77:99:1152,0,1146:127
11	1253942	.	T	C	5553.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=271;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs908229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=908229" target="_blank">rs908229</a>;ExAC.Info.AC=76456;ExAC.Info.AN=123688;ExAC.Info.AF=0.618;ExAC.Info.AC_Het=37919;ExAC.Info.AC_Hom=15922;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr672Tyr/c.2016T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2007T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.2007T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1253942">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,25:75:99:623,0,1417:127	0|0:104,1:105:99:0,281,3492:127	1|0:54,37:91:99:1061,0,1461:127
11	1255089	.	CCCCTG	C	1942.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=70;MQ=70.19;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs147340559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147340559" target="_blank">rs147340559</a>;ExAC.Info.AC=41738;ExAC.Info.AN=119292;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=10017;ExAC.Info.AC_Hom=3851;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2386+12_2386+16delCCCTG;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2377+30_2377+34del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.2377+30_2377+34del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1255089">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,12:22:99:425,0,366:82	0|0:28,0:28:83:0,83,1331:82	1|0:11,9:20:99:332,0,449:82
11	1257867	.	T	C	3630.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2672803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2672803" target="_blank">rs2672803</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3066+75T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.3057+75T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.3057+75T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1257867">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,18:38:99:580,0,611:127	0|0:51,0:51:99:0,153,1890:127	1|0:19,26:45:99:855,0,537:127
11	1260632	.	TG	T	3111.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=115;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs34074919;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34074919" target="_blank">rs34074919</a>;ExAC.Info.AC=9783;ExAC.Info.AN=124888;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8543;ExAC.Info.AC_Hom=439;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3464-35delG;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3455-33delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.3455-33delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1260632">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,17:37:99:496,0,601:110	0|0:37,0:37:99:0,111,1315:110	1|0:22,19:41:99:555,0,678:110
11	1261640	.	C	T	4657.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2735733;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2735733" target="_blank">rs2735733</a>;ExAC.Info.AC=57495;ExAC.Info.AN=124174;ExAC.Info.AF=0.463;ExAC.Info.AC_Het=27432;ExAC.Info.AC_Hom=13291;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3979+35C>T;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.3970+35C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.3970+35C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1261640">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,18:47:99:512,0,851:127	0|0:89,0:89:99:0,267,2952:127	1|0:31,33:64:99:1048,0,801:127
11	1262907	.	T	C	8976.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2037089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2037089" target="_blank">rs2037089</a>;ExAC.Info.AC=26499;ExAC.Info.AN=125040;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=19556;ExAC.Info.AC_Hom=2850;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser1602Ser/c.4806T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4797T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.4797T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1262907">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,55:89:99:1558,0,878:127	0|0:108,0:108:99:0,324,3628:127	1|0:44,51:95:99:1407,0,1171:127
11	1263021	.	G	T	6178.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56257795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56257795" target="_blank">rs56257795</a>;ExAC.Info.AC=1082;ExAC.Info.AN=125384;ExAC.Info.AF=8.629e-03;ExAC.Info.AC_Het=1059;ExAC.Info.AC_Hom=6;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccT;snpeff.Amino_Acid_Change=p.Pro1640Pro/c.4920G>T;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4911G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.4911G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1263021">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,30:62:99:957,0,911:127	0|0:115,0:115:99:0,346,3994:127	1|0:41,35:76:99:1054,0,1279:127
11	1263523	.	G	A	9458.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=400;MQ=69.97;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1541314;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1541314" target="_blank">rs1541314</a>;ExAC.Info.AC=10027;ExAC.Info.AN=125426;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=9010;ExAC.Info.AC_Hom=495;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.402C>T;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly1808Ser/c.5422G>A;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5413G>A_p.Gly1805Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.5413G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1263523">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,76:145:99:2258,0,2094:127	0|0:142,0:142:99:0,427,5124:127	1|0:55,58:113:99:1692,0,1570:127
11	1263687	.	C	T	4384.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=515;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs55933911;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55933911" target="_blank">rs55933911</a>;ExAC.Info.AC=5163;ExAC.Info.AN=125888;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4792;ExAC.Info.AC_Hom=173;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.238G>A;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn1862Asn/c.5586C>T;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5577C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.5577C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1263687">View</a>	GT:AD:DP:GQ:PL:TP	0|0:167,0:167:99:0,502,5907:127	0|0:199,0:199:99:0,598,6966:127	0|1:73,76:149:99:2211,0,2146:127
11	1263776	.	C	T	11749.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=555;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2943510;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943510" target="_blank">rs2943510</a>;ExAC.Info.AC=17802;ExAC.Info.AN=125912;ExAC.Info.AF=0.141;ExAC.Info.AC_Het=14666;ExAC.Info.AC_Hom=1543;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.149G>A;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cTa;snpeff.Amino_Acid_Change=p.Pro1892Leu/c.5675C>T;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.5666C>T_p.Pro1889Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.5666C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1263776">View</a>	GT:AD:DP:GQ:PL:TP	1|0:100,86:186:99:2412,0,2999:127	0|0:206,0:206:99:0,619,7369:127	1|0:88,75:163:99:2042,0,2590:127
11	1264183	.	G	A	10267.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=803;MQ=67.81;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs146229325;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146229325" target="_blank">rs146229325</a>;ExAC.Info.AC=15232;ExAC.Info.AN=125672;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=13006;ExAC.Info.AC_Hom=1105;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-315C>T;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala2028Thr/c.6082G>A;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.6073G>A_p.Ala2025Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.6073G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1264183">View</a>	GT:AD:DP:GQ:PL:TP	0|0:236,1:237:99:0,671,7977:127	0|1:151,174:325:99:5152,0,4233:127	0|0:241,0:241:99:0,723,8558:127
11	1264691	.	T	C	11712.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=530;MQ=63.56;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2943502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943502" target="_blank">rs2943502</a>;ExAC.Info.AC=59709;ExAC.Info.AN=104840;ExAC.Info.AF=0.570;ExAC.Info.AC_Het=9057;ExAC.Info.AC_Hom=12915;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-823A>G;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met2197Thr/c.6590T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.6581T>C_p.Met2194Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.6581T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1264691">View</a>	GT:AD:DP:GQ:PL:TP	1|0:117,61:178:99:1639,0,3275:127	0|0:238,0:238:99:0,714,8245:127	1|1:0,114:114:99:4007,343,0:127
11	1264742	.	G	C	7560.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=624;MQ=61.71;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs137973688;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=137973688" target="_blank">rs137973688</a>;ExAC.Info.AC=51046;ExAC.Info.AN=125138;ExAC.Info.AF=0.408;ExAC.Info.AC_Het=35264;ExAC.Info.AC_Hom=6969;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-874C>G;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cCc;snpeff.Amino_Acid_Change=p.Arg2214Pro/c.6641G>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.6632G>C_p.Arg2211Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.6632G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1264742">View</a>	GT:AD:DP:GQ:PL:TP	1|0:138,72:210:99:1881,0,4142:127	0|0:270,0:270:99:0,811,9305:127	1|0:81,63:144:99:1731,0,2294:127
11	1264808	.	T	G	12267.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=889;MQ=61.70;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2943528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943528" target="_blank">rs2943528</a>;ExAC.Info.AC=17833;ExAC.Info.AN=125676;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=15978;ExAC.Info.AC_Hom=751;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-940A>C;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gGg;snpeff.Amino_Acid_Change=p.Val2236Gly/c.6707T>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.6698T>G_p.Val2233Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.6698T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1264808">View</a>	GT:AD:DP:GQ:PL:TP	1|0:204,97:301:99:2537,0,7851:127	0|0:357,0:357:99:0,1092,15652:127	1|0:123,108:231:99:3130,0,3230:127
11	1264823	.	T	C	31242.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=969;MQ=62.12;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4963031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4963031" target="_blank">rs4963031</a>;cosmic68.Histology_subtype=astrocytoma_Grade_IV;ExAC.Info.AC=92468;ExAC.Info.AN=125472;ExAC.Info.AF=0.737;ExAC.Info.AC_Het=21546;ExAC.Info.AC_Hom=35128;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-955A>G;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTa/cCa;snpeff.Amino_Acid_Change=p.Leu2241Pro/c.6722T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.6713T>C_p.Leu2238Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.6713T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1264823">View</a>	GT:AD:DP:GQ:PL:TP	1|0:197,136:333:99:4569,0,5292:127	0|0:369,1:370:99:0,1077,12503:127	1|1:0,266:266:99:9966,803,0:127
11	1264890	.	A	G	10608.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1111;MQ=65.62;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12286473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12286473" target="_blank">rs12286473</a>;ExAC.Info.AC=17394;ExAC.Info.AN=126098;ExAC.Info.AF=0.138;ExAC.Info.AC_Het=14025;ExAC.Info.AC_Hom=1573;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-1022T>C;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg2263Arg/c.6789A>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.6780A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.6780A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1264890">View</a>	GT:AD:DP:GQ:PL:TP	0|0:366,13:379:99:0,686,11375:127	0|1:167,180:347:99:5397,0,4632:127	0|0:380,5:385:99:0,979,12637:127
11	1264965	.	G	A	5351.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=996;MQ=63.82;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4963051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4963051" target="_blank">rs4963051</a>;ExAC.Info.AC=18697;ExAC.Info.AN=125778;ExAC.Info.AF=0.149;ExAC.Info.AC_Het=15339;ExAC.Info.AC_Hom=1645;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-1097C>T;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr2288Thr/c.6864G>A;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.6855G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.6855G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1264965">View</a>	GT:AD:DP:GQ:PL:TP	0|0:339,0:339:99:0,1021,11947:127	0|0:296,1:297:99:0,855,10419:127	0|1:252,108:360:99:2650,0,7724:127
11	1265422	.	G	A	3840.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1064;MQ=57.16;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs199749553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199749553" target="_blank">rs199749553</a>;ExAC.Info.AC=12468;ExAC.Info.AN=124886;ExAC.Info.AF=0.100;ExAC.Info.AC_Het=8452;ExAC.Info.AC_Hom=1224;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-1554C>T;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu2441Lys/c.7321G>A;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.7312G>A_p.Glu2438Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.7312G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1265422">View</a>	GT:AD:DP:GQ:PL:TP	0|0:336,0:336:99:0,1009,11909:127	0|0:475,0:475:99:0,1428,16499:127	0|1:173,80:253:99:1939,0,5432:127
11	1265786	.	C	T	11965.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=705;MQ=41.84;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs200197337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200197337" target="_blank">rs200197337</a>;ExAC.Info.AC=53492;ExAC.Info.AN=124358;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=30777;ExAC.Info.AC_Hom=8751;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-1918G>A;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr2562Met/c.7685C>T;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.7676C>T_p.Thr2559Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.7676C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1265786">View</a>	GT:AD:DP:GQ:PL:TP	1|0:122,121:243:99:2926,0,3302:127	0|0:234,0:234:99:0,703,7830:127	1|0:120,108:228:99:2697,0,3218:127
11	1265987	.	C	G	20394.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=981;MQ=69.22;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3021158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3021158" target="_blank">rs3021158</a>;cosmic68.Histology_subtype=oligodendroglioma_Grade_III;ExAC.Info.AC=17698;ExAC.Info.AN=125574;ExAC.Info.AF=0.141;ExAC.Info.AC_Het=16030;ExAC.Info.AC_Hom=1579;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-2119G>C;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aGg;snpeff.Amino_Acid_Change=p.Thr2629Arg/c.7886C>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.7877C>G_p.Thr2626Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.7877C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1265987">View</a>	GT:AD:DP:GQ:PL:TP	1|0:164,175:339:99:5329,0,4693:127	0|0:377,1:378:99:0,1096,13390:127	1|0:132,132:264:99:4230,0,3786:127
11	1266537	.	G	T	1573.54	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=799;MQ=52.11;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs199659189;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199659189" target="_blank">rs199659189</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=241;ExAC.Info.AN=122188;ExAC.Info.AF=1.972e-03;ExAC.Info.AC_Het=184;ExAC.Info.AC_Hom=22;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-2669C>A;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctT;snpeff.Amino_Acid_Change=p.Leu2812Leu/c.8436G>T;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.8427G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.8427G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1266537">View</a>	GT:AD:DP:GQ:PL:TP	1|0:227,31:258:99:397,0,6975:127	0|0:353,0:353:99:0,1060,12245:127	1|0:159,29:188:99:608,0,4704:127
11	1266561	.	G	A	276.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=875;MQ=56.48;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs200970694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200970694" target="_blank">rs200970694</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=92;ExAC.Info.AN=122658;ExAC.Info.AF=7.501e-04;ExAC.Info.AC_Het=60;ExAC.Info.AC_Hom=15;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-2693C>T;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg2820Arg/c.8460G>A;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.8451G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.8451G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1266561">View</a>	GT:AD:DP:GQ:PL:TP	0|0:270,19:289:99:0,250,10735:127	0|0:386,0:386:99:0,1183,16876:127	0|1:177,23:200:99:157,0,6895:127
11	1266599	.	C	T	10617.99	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=902;MQ=62.45;MQ0=0;culprit=DP;NA12878i_GT=0/0;NA12892_GT=1/1;NA12891_GT=0/0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs139960671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139960671" target="_blank">rs139960671</a>;ExAC.Info.AC=20442;ExAC.Info.AN=122726;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=11241;ExAC.Info.AC_Hom=4453;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-2731G>A;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro2833Leu/c.8498C>T;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.8489C>T_p.Pro2830Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.8489C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1266599">View</a>	GT:AD:DP:GQ:PL:TP	0/0:315,2:317:99:0,879,10689:127	0/0:413,0:413:99:0,1241,14860:127	1/1:9,163:172:99:5335,246,0:127
11	1267325	.	T	C	10720.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=585;MQ=63.14;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55813014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55813014" target="_blank">rs55813014</a>;ExAC.Info.AC=61285;ExAC.Info.AN=125412;ExAC.Info.AF=0.489;ExAC.Info.AC_Het=29940;ExAC.Info.AC_Hom=15497;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.57-3457A>G;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tCc;snpeff.Amino_Acid_Change=p.Phe3075Ser/c.9224T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.9215T>C_p.Phe3072Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.9215T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1267325">View</a>	GT:AD:DP:GQ:PL:TP	1|0:104,104:208:99:2730,0,2581:127	0|0:245,0:245:99:0,735,8241:127	1|0:77,55:132:99:1626,0,2216:127
11	1267475	.	T	C	435.63	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=811;MQ=60.15;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs58125533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58125533" target="_blank">rs58125533</a>;ExAC.Info.AC=6815;ExAC.Info.AN=125716;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=6029;ExAC.Info.AC_Hom=312;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+3376A>G;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met3125Thr/c.9374T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.9365T>C_p.Met3122Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.9365T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1267475">View</a>	GT:AD:DP:GQ:PL:TP	1|0:233,27:260:99:346,0,9019:127	0|0:314,0:314:99:0,956,13349:127	1|0:218,19:237:99:110,0,8354:127
11	1267550	.	C	G	6677.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1057;MQ=63.55;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs201362727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201362727" target="_blank">rs201362727</a>;ExAC.Info.AC=288;ExAC.Info.AN=125270;ExAC.Info.AF=2.299e-03;ExAC.Info.AC_Het=282;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+3301G>C;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gGc;snpeff.Amino_Acid_Change=p.Ala3150Gly/c.9449C>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.9440C>G_p.Ala3147Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.9440C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1267550">View</a>	GT:AD:DP:GQ:PL:TP	1|0:275,88:363:99:1925,0,8843:127	0|0:360,0:360:99:0,1082,12836:127	1|0:262,72:334:99:1372,0,8300:127
11	1267917	.	T	C	2960.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=677;MQ=66.01;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3021163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3021163" target="_blank">rs3021163</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=63426;ExAC.Info.AN=124846;ExAC.Info.AF=0.508;ExAC.Info.AC_Het=28298;ExAC.Info.AC_Hom=17152;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+2934A>G;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser3272Ser/c.9816T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.9807T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.9807T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1267917">View</a>	GT:AD:DP:GQ:PL:TP	1|0:151,35:186:99:723,0,4725:127	0|0:332,0:332:99:0,997,11896:127	1|0:130,29:159:99:573,0,3922:127
11	1267960	.	A	G	19113.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=869;MQ=64.35;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2943531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943531" target="_blank">rs2943531</a>;ExAC.Info.AC=96132;ExAC.Info.AN=124360;ExAC.Info.AF=0.773;ExAC.Info.AC_Het=16421;ExAC.Info.AC_Hom=38904;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+2891T>C;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr3287Ala/c.9859A>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.9850A>G_p.Thr3284Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.9850A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1267960">View</a>	GT:AD:DP:GQ:PL:TP	1|0:194,68:262:99:1746,0,5558:127	0|0:394,1:395:99:0,1151,13181:127	1|1:0,212:212:99:7545,636,0:127
11	1268513	.	G	C	14849.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=774;MQ=62.64;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2943529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943529" target="_blank">rs2943529</a>;ExAC.Info.AC=62400;ExAC.Info.AN=125524;ExAC.Info.AF=0.497;ExAC.Info.AC_Het=29497;ExAC.Info.AC_Hom=15936;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+2338C>G;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cCc;snpeff.Amino_Acid_Change=p.Arg3471Pro/c.10412G>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.10403G>C_p.Arg3468Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.10403G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1268513">View</a>	GT:AD:DP:GQ:PL:TP	1|0:138,99:237:99:2514,0,3838:127	0|0:287,2:289:99:0,818,9581:127	1|0:117,131:248:99:3597,0,3210:127
11	1268608	.	A	G	19490.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=834;MQ=63.64;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2943527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943527" target="_blank">rs2943527</a>;ExAC.Info.AC=83195;ExAC.Info.AN=125398;ExAC.Info.AF=0.663;ExAC.Info.AC_Het=25048;ExAC.Info.AC_Hom=28216;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+2243T>C;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Ggt;snpeff.Amino_Acid_Change=p.Ser3503Gly/c.10507A>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.10498A>G_p.Ser3500Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.10498A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1268608">View</a>	GT:AD:DP:GQ:PL:TP	1|0:189,87:276:99:2356,0,5526:127	0|0:363,1:364:99:0,1083,12661:127	1|1:1,193:194:99:6901,543,0:127
11	1268637	.	G	T	12728.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=819;MQ=63.89;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2943525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943525" target="_blank">rs2943525</a>;ExAC.Info.AC=18957;ExAC.Info.AN=125534;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=14896;ExAC.Info.AC_Hom=1600;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+2214C>A;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctT;snpeff.Amino_Acid_Change=p.Leu3512Leu/c.10536G>T;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.10527G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.10527G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1268637">View</a>	GT:AD:DP:GQ:PL:TP	1|0:177,98:275:99:2586,0,5461:127	0|0:350,0:350:99:0,1051,12820:127	1|0:88,106:194:99:3016,0,2594:127
11	1268682	.	T	C	5017.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=817;MQ=65.88;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs112219279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112219279" target="_blank">rs112219279</a>;ExAC.Info.AC=19314;ExAC.Info.AN=125352;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=14656;ExAC.Info.AC_Hom=2203;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+2169A>G;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser3527Ser/c.10581T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.10572T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.10572T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1268682">View</a>	GT:AD:DP:GQ:PL:TP	0|0:268,0:268:99:0,811,9062:127	0|0:322,2:324:99:0,950,11218:127	0|1:132,93:225:99:2549,0,3769:127
11	1268955	.	C	T	19160.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=996;MQ=40.39;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs142883156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142883156" target="_blank">rs142883156</a>;ExAC.Info.AC=18593;ExAC.Info.AN=122950;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=12170;ExAC.Info.AC_Hom=2341;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+1896G>A;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu3618Leu/c.10854C>T;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.10845C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.10845C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1268955">View</a>	GT:AD:DP:GQ:PL:TP	1|0:148,160:308:99:4078,0,3610:127	0|0:365,0:365:99:0,1095,11370:127	1|0:146,177:323:99:4495,0,3556:127
11	1269215	.	C	T	9808.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1042;MQ=59.79;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs79239311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79239311" target="_blank">rs79239311</a>;ExAC.Info.AC=15496;ExAC.Info.AN=125132;ExAC.Info.AF=0.124;ExAC.Info.AC_Het=12213;ExAC.Info.AC_Hom=1600;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+1636G>A;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr3705Met/c.11114C>T;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.11105C>T_p.Thr3702Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.11105C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1269215">View</a>	GT:AD:DP:GQ:PL:TP	0|0:322,0:322:99:0,967,10699:127	0|1:155,168:323:99:4914,0,4573:127	0|0:396,1:397:99:0,1182,12881:127
11	1269672	.	T	C	17818.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1036;MQ=65.08;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4963057;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4963057" target="_blank">rs4963057</a>;ExAC.Info.AC=61798;ExAC.Info.AN=125004;ExAC.Info.AF=0.494;ExAC.Info.AC_Het=27162;ExAC.Info.AC_Hom=16588;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+1179A>G;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser3857Ser/c.11571T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.11562T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.11562T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1269672">View</a>	GT:AD:DP:GQ:PL:TP	1|0:182,149:331:99:4263,0,5234:127	0|0:394,0:394:99:0,1184,13761:127	1|0:167,144:311:99:3904,0,4868:127
11	1269835	.	G	A	12287.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=865;MQ=64.91;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2943521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943521" target="_blank">rs2943521</a>;ExAC.Info.AC=56552;ExAC.Info.AN=124796;ExAC.Info.AF=0.453;ExAC.Info.AC_Het=29015;ExAC.Info.AC_Hom=12944;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.56+1016C>T;snpeff.Gene_Name=RP11-532E4.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532061;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val3912Ile/c.11734G>A;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-532E42" target="_blank">RP11-532E42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.11725G>A_p.Val3909Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.11725G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1269835">View</a>	GT:AD:DP:GQ:PL:TP	1|0:151,109:260:99:2985,0,4418:127	0|0:345,0:345:99:0,1037,12384:127	1|0:151,109:260:99:2823,0,4452:127
11	1271218	.	GCCA	G	17106.98	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=672;MQ=59.29;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs199629887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199629887" target="_blank">rs199629887</a>;ExAC.Info.AC=9976;ExAC.Info.AN=125740;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=9040;ExAC.Info.AC_Hom=477;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gccacc/gcc;snpeff.Amino_Acid_Change=p.Ala4373_Thr4374del/c.13118_13120delCCA;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.13113_13115delCAC_p.Thr4373del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.13113_13115delCAC+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1271218">View</a>	GT:AD:DP:GQ:PL:TP	1|0:99,117:216:99:4606,0,3757:127	0|0:266,0:266:99:0,800,11921:127	1|0:110,80:190:99:2980,0,4313:127
11	1271321	.	C	G	5501.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=802;MQ=62.51;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2943517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943517" target="_blank">rs2943517</a>;ExAC.Info.AC=56964;ExAC.Info.AN=124642;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=29816;ExAC.Info.AC_Hom=13265;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gGc;snpeff.Amino_Acid_Change=p.Ala4407Gly/c.13220C>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.13211C>G_p.Ala4404Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.13211C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1271321">View</a>	GT:AD:DP:GQ:PL:TP	1|0:180,55:235:99:1213,0,5677:127	0|0:345,0:345:99:0,1037,12752:127	1|0:170,52:222:99:1217,0,5377:127
11	1272039	.	G	A	19775.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=906;MQ=63.81;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2943513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943513" target="_blank">rs2943513</a>;ExAC.Info.AC=9897;ExAC.Info.AN=125348;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=8799;ExAC.Info.AC_Hom=471;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro4646Pro/c.13938G>A;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.13929G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.13929G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1272039">View</a>	GT:AD:DP:GQ:PL:TP	1|0:129,154:283:99:4514,0,3681:127	0|0:336,0:336:99:0,1009,11594:127	1|0:139,148:287:99:4434,0,3929:127
11	1272226	.	A	C	21270.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=852;MQ=68.68;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2943512;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943512" target="_blank">rs2943512</a>;ExAC.Info.AC=65045;ExAC.Info.AN=125276;ExAC.Info.AF=0.519;ExAC.Info.AC_Het=28701;ExAC.Info.AC_Hom=17681;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Ccc;snpeff.Amino_Acid_Change=p.Thr4709Pro/c.14125A>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.14116A>C_p.Thr4706Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.14116A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1272226">View</a>	GT:AD:DP:GQ:PL:TP	1|0:140,99:239:99:3646,0,6413:127	0|0:333,0:333:99:0,1023,17053:127	1|0:146,134:280:99:4899,0,6398:127
11	1272245	.	C	T	20460.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=779;MQ=69.60;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2943511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2943511" target="_blank">rs2943511</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=10240;ExAC.Info.AN=125710;ExAC.Info.AF=0.081;ExAC.Info.AC_Het=8687;ExAC.Info.AC_Hom=724;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr4715Met/c.14144C>T;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.14135C>T_p.Thr4712Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.14135C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1272245">View</a>	GT:AD:DP:GQ:PL:TP	1|0:126,103:229:99:3811,0,6078:127	0|0:311,0:311:99:0,954,16437:127	1|0:125,114:239:99:4269,0,5772:127
11	1272709	.	G	A	10645.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=764;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3021155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3021155" target="_blank">rs3021155</a>;ExAC.Info.AC=10000;ExAC.Info.AN=125700;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=8923;ExAC.Info.AC_Hom=486;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala4870Thr/c.14608G>A;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.14599G>A_p.Ala4867Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.14599G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1272709">View</a>	GT:AD:DP:GQ:PL:TP	1|0:135,107:242:99:2623,0,4011:127	0|0:305,2:307:99:0,848,10775:127	1|0:119,96:215:99:2426,0,3530:127
11	1272754	.	A	G	9262.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=499;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3021156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3021156" target="_blank">rs3021156</a>;ExAC.Info.AC=9964;ExAC.Info.AN=125582;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=8886;ExAC.Info.AC_Hom=479;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr4885Ala/c.14653A>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.14644A>G_p.Thr4882Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.14644A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1272754">View</a>	GT:AD:DP:GQ:PL:TP	1|0:84,74:158:99:2348,0,2362:127	0|0:209,0:209:99:0,626,7066:127	1|0:69,63:132:99:2033,0,2019:127
11	1273833	.	T	C	2608.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2249073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2249073" target="_blank">rs2249073</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.15054+79T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=In32/33;SAVANT_HGVS=c.15045+79T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.15045+79T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1273833">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,15:27:99:485,0,318:96	0|0:32,0:32:96:0,96,1083:96	1|0:10,16:26:99:545,0,246:96
11	1279486	.	A	G	3911.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2249550;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2249550" target="_blank">rs2249550</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.16564+53A>G;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=42;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=In42/43;SAVANT_HGVS=c.16555+53A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.16555+53A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1279486">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,20:53:99:640,0,965:127	0|0:92,0:92:99:0,276,3084:127	1|0:28,24:52:99:815,0,797:127
11	1281134	.	T	C	10641.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=463;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2857476;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2857476" target="_blank">rs2857476</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.16810-59T>C;snpeff.Amino_Acid_length=5765;snpeff.Gene_Name=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447027;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529681;SAVANT_GENE=MUC5B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC5B" target="_blank">MUC5B</a>;SAVANT_INFO=+/39.1kb/49/17.9kb;SAVANT_LOC=In45/46;SAVANT_HGVS=c.16801-59T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MUC5B+c.16801-59T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1281134">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,71:123:99:2246,0,1433:127	0|0:180,0:180:99:0,541,6381:127	1|0:94,66:160:99:1918,0,2743:127
11	1284227	.	A	G	3119.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12417955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12417955" target="_blank">rs12417955</a>;ExAC.Info.AC=63677;ExAC.Info.AN=119344;ExAC.Info.AF=0.534;ExAC.Info.AC_Het=27779;ExAC.Info.AC_Hom=16705;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12417955" target="_blank">rs12417955</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1284227">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,24:49:99:709,0,670:127	0|0:57,0:57:99:0,171,1922:127	1|0:13,10:23:99:280,0,393:127
11	1307228	.	G	A	1432.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72846381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72846381" target="_blank">rs72846381</a>;ExAC.Info.AC=854;ExAC.Info.AN=125424;ExAC.Info.AF=6.809e-03;ExAC.Info.AC_Het=601;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.610+4C>T;snpeff.Amino_Acid_length=274;snpeff.Gene_Name=TOLLIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOLLIP" target="_blank">TOLLIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317204;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.611C>T;snpeff.Amino_Acid_length=274;snpeff.Gene_Name=TOLLIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOLLIP" target="_blank">TOLLIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317204;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317204;SAVANT_GENE=TOLLIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOLLIP" target="_blank">TOLLIP</a>;SAVANT_INFO=-/35.3kb/6/3.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.610+4C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOLLIP+c.610+4C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1307228">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1676:127	0|0:76,0:76:99:0,228,2541:127	0|1:31,28:59:99:735,0,863:127
11	1309956	.	C	T	10040.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3750920;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750920" target="_blank">rs3750920</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=49956;ExAC.Info.AN=126068;ExAC.Info.AF=0.396;ExAC.Info.AC_Het=29134;ExAC.Info.AC_Hom=10184;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro139Pro/c.417G>A;snpeff.Amino_Acid_length=274;snpeff.Gene_Name=TOLLIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOLLIP" target="_blank">TOLLIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317204;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317204;SAVANT_GENE=TOLLIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TOLLIP" target="_blank">TOLLIP</a>;SAVANT_INFO=-/35.3kb/6/3.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.417G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TOLLIP+c.417G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1309956">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,32:70:99:823,0,1109:127	1|1:0,75:75:99:2686,225,0:127	0|1:34,34:68:99:858,0,914:127
11	1432651	.	A	C	54.89	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=623;ExAC.Info.AN=110436;ExAC.Info.AF=5.641e-03;ExAC.Info.AC_Het=403;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cCc;snpeff.Amino_Acid_Change=p.His6Pro/c.17A>C;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308219;SAVANT_GENE=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;SAVANT_INFO=+/72.8kb/20/4.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.91+21046A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRSK2+c.91+21046A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1432651">View</a>	GT:AD:DP:GQ:PL:TP	0|0:18,3:21:14:0,14,567:13	0|0:34,5:39:23:0,23,1160:13	0|1:20,5:25:46:46,0,636:13
11	1432691	.	T	C	1246.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61868960;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61868960" target="_blank">rs61868960</a>;ExAC.Info.AC=43196;ExAC.Info.AN=110746;ExAC.Info.AF=0.390;ExAC.Info.AC_Het=22214;ExAC.Info.AC_Hom=9680;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys19Cys/c.57T>C;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308219;SAVANT_GENE=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;SAVANT_INFO=+/72.8kb/20/4.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.91+21086T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRSK2+c.91+21086T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1432691">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1444:127	0|0:61,0:61:99:0,183,2150:127	0|1:21,21:42:99:642,0,595:127
11	1462162	.	AG	A	1227.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61002819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61002819" target="_blank">rs61002819</a>;ExAC.Info.AC=52650;ExAC.Info.AN=125366;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=26310;ExAC.Info.AC_Hom=11175;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.551+5delG;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.552delG;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000308219;SAVANT_GENE=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;SAVANT_INFO=+/72.8kb/20/4.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.413+6delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRSK2+c.413+6delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1462162">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1814:127	0|1:36,22:58:99:637,0,1140:127	0|0:58,0:58:99:0,174,2134:127
11	1466720	.	G	A	1860.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3817589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3817589" target="_blank">rs3817589</a>;ExAC.Info.AC=17761;ExAC.Info.AN=122504;ExAC.Info.AF=0.145;ExAC.Info.AC_Het=13898;ExAC.Info.AC_Hom=1291;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1115+32G>A;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UBA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1116G>A;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UBA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1116G>A;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308219;SAVANT_GENE=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;SAVANT_INFO=+/72.8kb/20/4.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.977+32G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRSK2+c.977+32G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1466720">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2326:127	0|1:45,34:79:99:949,0,1353:127	0|0:74,0:74:99:0,223,2788:127
11	1472050	.	A	G	3222.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs61869028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61869028" target="_blank">rs61869028</a>;ExAC.Info.AC=44057;ExAC.Info.AN=120926;ExAC.Info.AF=0.364;ExAC.Info.AC_Het=19549;ExAC.Info.AC_Hom=7494;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1633+26A>G;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308219;SAVANT_GENE=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;SAVANT_INFO=+/72.8kb/20/4.1kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1495+26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRSK2+c.1495+26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1472050">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,1988:127	0|1:19,31:50:99:998,0,544:127	0|1:31,25:56:99:633,0,856:127
11	1477768	.	C	T	4382.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=376;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs67861777;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67861777" target="_blank">rs67861777</a>;ExAC.Info.AC=25139;ExAC.Info.AN=124422;ExAC.Info.AF=0.202;ExAC.Info.AC_Het=17878;ExAC.Info.AC_Hom=2593;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1987+10C>T;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308219;SAVANT_GENE=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;SAVANT_INFO=+/72.8kb/20/4.1kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1849+10C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRSK2+c.1849+10C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1477768">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,376,4428:127	0|1:66,76:142:99:2210,0,1963:127	0|0:109,0:109:99:0,328,3882:127
11	1477797	.	C	T	11449.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61869032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61869032" target="_blank">rs61869032</a>;ExAC.Info.AC=26219;ExAC.Info.AN=124088;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=17590;ExAC.Info.AC_Hom=2873;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1988-31C>T;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308219;SAVANT_GENE=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;SAVANT_INFO=+/72.8kb/20/4.1kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1850-31C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRSK2+c.1850-31C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1477797">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,50:109:99:1535,0,1773:127	0/1:64,56:120:99:1668,0,1942:127	0/1:60,48:108:99:1328,0,1802:127
11	1480502	.	A	C	170.51	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=22206;ExAC.Info.AN=92322;ExAC.Info.AF=0.241;ExAC.Info.AC_Het=22050;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2125+33A>C;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308219;SAVANT_GENE=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;SAVANT_INFO=+/72.8kb/20/4.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1987+33A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRSK2+c.1987+33A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1480502">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,9:35:25:25,0,689:14	0/1:37,15:52:15:15,0,915:14	0/1:20,10:30:31:31,0,547:14
11	1481690	.	CCTT	C	3857.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=101;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs150300634;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150300634" target="_blank">rs150300634</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2126-87_2126-85delCTT;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000308219;SAVANT_GENE=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;SAVANT_INFO=+/72.8kb/20/4.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1988-509_1988-507delCTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRSK2+c.1988-509_1988-507delCTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1481690">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,17:28:99:426,0,366:107	1|1:1,37:38:99:1074,107,0:107	0|1:19,16:35:99:381,0,625:107
11	1481930	.	A	G	7048.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4963048;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4963048" target="_blank">rs4963048</a>;ExAC.Info.AC=10311;ExAC.Info.AN=25388;ExAC.Info.AF=0.406;ExAC.Info.AC_Het=2078;ExAC.Info.AC_Hom=1859;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr760Ala/c.2278A>G;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308219;SAVANT_GENE=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;SAVANT_INFO=+/72.8kb/20/4.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1988-270A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRSK2+c.1988-270A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1481930">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,25:55:99:528,0,840:127	1|1:0,54:54:99:1731,160,0:127	0|1:31,27:58:99:719,0,864:127
11	1481962	.	GC	G	2214.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=117;MQ=70.03;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs34875491;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34875491" target="_blank">rs34875491</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.*10delC;snpeff.Amino_Acid_length=766;snpeff.Gene_Name=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382179;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000308219;SAVANT_GENE=BRSK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BRSK2" target="_blank">BRSK2</a>;SAVANT_INFO=+/72.8kb/20/4.1kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1988-227delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BRSK2+c.1988-227delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1481962">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,10:42:99:140,0,749:94	0/1:11,32:43:99:687,0,177:94	0/1:24,8:32:95:95,0,565:94
11	1491096	.	G	A	15324.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs9440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9440" target="_blank">rs9440</a>;ExAC.Info.AC=8918;ExAC.Info.AN=19370;ExAC.Info.AF=0.460;ExAC.Info.AC_Het=3213;ExAC.Info.AC_Hom=1843;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOB2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1491096">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,53:95:99:1488,0,1011:127	1|1:0,124:124:99:4301,373,0:127	0|1:45,37:82:99:1139,0,1227:127
11	1501670	.	G	C	26077.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs10742185;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10742185" target="_blank">rs10742185</a>;ExAC.Info.AC=113200;ExAC.Info.AN=125088;ExAC.Info.AF=0.905;ExAC.Info.AC_Het=10490;ExAC.Info.AC_Hom=51088;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcG;snpeff.Amino_Acid_Change=p.Ser106Ser/c.318C>G;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329957;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329957;SAVANT_GENE=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;SAVANT_INFO=-/16.8kb/5/1.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.318C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOB2+c.318C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1501670">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3188,303,0:127	1|1:0,105:105:99:3483,315,0:127	1|1:0,104:104:99:3275,312,0:127
11	1502097	.	A	G	13125.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs10767696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10767696" target="_blank">rs10767696</a>;ExAC.Info.AC=98458;ExAC.Info.AN=111596;ExAC.Info.AF=0.882;ExAC.Info.AC_Het=2945;ExAC.Info.AC_Hom=14384;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro43Pro/c.129T>C;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329957;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329957;SAVANT_GENE=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;SAVANT_INFO=-/16.8kb/5/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.129T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOB2+c.129T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1502097">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1320,108,0:127	1|1:0,56:56:99:1933,168,0:127	1|1:0,48:48:99:1692,144,0:127
11	1502401	.	A	C	10340.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs4881735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4881735" target="_blank">rs4881735</a>;ExAC.Info.AC=76861;ExAC.Info.AN=88788;ExAC.Info.AF=0.866;ExAC.Info.AC_Het=1305;ExAC.Info.AC_Hom=5887;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.111-286T>G;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329957;SAVANT_GENE=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;SAVANT_INFO=-/16.8kb/5/1.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.111-286T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOB2+c.111-286T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1502401">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1269,108,0:98	1|1:0,50:50:99:1874,150,0:98	1|1:0,33:33:99:1185,99,0:98
11	1507731	.	A	G	28827.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1881503;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1881503" target="_blank">rs1881503</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=15202;ExAC.Info.AN=17302;ExAC.Info.AF=0.879;ExAC.Info.AC_Het=1157;ExAC.Info.AC_Hom=5513;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu19Pro/c.56T>C;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329957;SAVANT_GENE=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;SAVANT_INFO=-/16.8kb/5/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.56T>C_p.Leu19Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOB2+c.56T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1507731">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,105:105:99:3571,315,0:127	1|1:0,148:148:99:4787,444,0:127	1|1:0,86:86:99:2689,258,0:127
11	1507795	.	G	A	4040.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs1110206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1110206" target="_blank">rs1110206</a>;ExAC.Info.AC=5482;ExAC.Info.AN=20116;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=2940;ExAC.Info.AC_Hom=869;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=9;snpeff.Amino_Acid_Change=c.-9C>T;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=268;snpeff.Gene_Name=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329957;SAVANT_GENE=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;SAVANT_INFO=-/16.8kb/5/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-9C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOB2+c.-9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1507795">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,23:52:99:619,0,952:127	0|0:75,0:75:99:0,226,2904:127	1|0:18,23:41:99:728,0,601:127
11	1509238	.	T	C	30189.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs2334554;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2334554" target="_blank">rs2334554</a>;ExAC.Info.AC=106529;ExAC.Info.AN=118060;ExAC.Info.AF=0.902;ExAC.Info.AC_Het=9659;ExAC.Info.AC_Hom=46808;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MOB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MOB2" target="_blank">MOB2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MOB2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1509238">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3279,300,0:127	1|1:0,134:134:99:4567,403,0:127	1|1:0,100:100:99:3423,300,0:127
11	1576235	.	T	C	1204.11	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=31;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs6578504;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6578504" target="_blank">rs6578504</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1513;snpeff.Amino_Acid_Change=c.*1513A>G;snpeff.Amino_Acid_length=625;snpeff.Gene_Name=DUSP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP8" target="_blank">DUSP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397374;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397374;SAVANT_GENE=DUSP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP8" target="_blank">DUSP8</a>;SAVANT_INFO=-/17.9kb/7/4.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1513A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP8+c.*1513A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1576235">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,3:14:76:76,0,308:21	1|1:0,7:7:21:265,21,0:21	0|1:2,8:10:51:247,0,51:21
11	1576283	.	G	A	1337.86	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=31;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs11603496;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11603496" target="_blank">rs11603496</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1465;snpeff.Amino_Acid_Change=c.*1465C>T;snpeff.Amino_Acid_length=625;snpeff.Gene_Name=DUSP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP8" target="_blank">DUSP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397374;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397374;SAVANT_GENE=DUSP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP8" target="_blank">DUSP8</a>;SAVANT_INFO=-/17.9kb/7/4.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1465C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP8+c.*1465C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1576283">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,5:17:99:115,0,346:6	1|1:0,8:8:24:306,24,0:6	0|1:0,6:6:0:202,18,0:6
11	1585277	.	C	T	7513.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs3740620;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740620" target="_blank">rs3740620</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.232-58G>A;snpeff.Amino_Acid_length=625;snpeff.Gene_Name=DUSP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP8" target="_blank">DUSP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397374;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397374;SAVANT_GENE=DUSP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DUSP8" target="_blank">DUSP8</a>;SAVANT_INFO=-/17.9kb/7/4.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.232-58G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DUSP8+c.232-58G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1585277">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,12:35:99:371,0,695:127	1|1:0,67:67:99:2320,201,0:127	0|1:18,18:36:99:593,0,519:127
11	1606120	.	ACCACAGCCACCCTTGGATCCCCCACAAGAG	A	1334.99	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=38;MQ=67.25;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.328+11823_328+11852delCCACAGCCACCCTTGGATCCCCCACAAGAG;snpeff.Gene_Name=KRTAP5-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-AS1" target="_blank">KRTAP5-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000424148;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:8_X_4_AA_repeats_of_C-C-X-P];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.330_359delCCACAGCCACCCTTGGATCCCCCACAAGAG;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=KRTAP5-1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-AS1" target="_blank">KRTAP5-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382171;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=disruptive_inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ggctcttgtgggggatccaagggtggctgtggt/ggt;snpeff.Amino_Acid_Change=p.Gly110_Gly120del/c.330_359delCTCTTGTGGGGGATCCAAGGGTGGCTGTGG;snpeff.Amino_Acid_length=278;snpeff.Gene_Name=KRTAP5-1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-AS1" target="_blank">KRTAP5-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000382171;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000382171;SAVANT_GENE=KRTAP5-1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-1" target="_blank">KRTAP5-1</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.330_359del30_p.Cys112_Ser121del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KRTAP5-1+c.330_359del30+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1606120">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,4:16:92:92,0,573:34	1|1:0,11:11:34:452,34,0:34	0|1:7,4:11:99:136,0,360:34
11	1628844	.	A	G	8421.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=161;MQ=69.73;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs1989592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1989592" target="_blank">rs1989592</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=55;snpeff.Amino_Acid_Change=c.*55T>C;snpeff.Amino_Acid_length=238;snpeff.Gene_Name=KRTAP5-3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-3" target="_blank">KRTAP5-3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399685;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399685;SAVANT_GENE=KRTAP5-3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-3" target="_blank">KRTAP5-3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*55T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KRTAP5-3+c.*55T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1628844">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,25:45:99:780,0,601:127	1|1:0,60:60:99:2298,180,0:127	0|1:27,29:56:99:831,0,721:127
11	1630342	.	T	A	5657.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=129;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs10837527;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10837527" target="_blank">rs10837527</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10837527" target="_blank">rs10837527</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1630342">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,27:52:99:661,0,631:127	1|1:0,51:51:99:1742,153,0:127	0|1:17,9:26:99:245,0,549:127
11	1651594	.	AGTCC	A	6079.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=181;MQ=68.54;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);ExAC.Info.AC=10855;ExAC.Info.AN=95728;ExAC.Info.AF=0.113;ExAC.Info.AC_Het=9876;ExAC.Info.AC_Hom=475;snpeff.Effect=sequence_feature[region_of_interest:8_X_4_AA_repeats_of_C-C-X-P];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.525_528delGTCC;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=KRTAP5-5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-5" target="_blank">KRTAP5-5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399676;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=cagtcc/;snpeff.Amino_Acid_Change=p.Gln175fs/c.525_528delGTCC;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=KRTAP5-5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-5" target="_blank">KRTAP5-5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399676;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(KRTAP5-5|ENSG00000185940|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000399676;SAVANT_GENE=KRTAP5-5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-5" target="_blank">KRTAP5-5</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.525_528delGTCC;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KRTAP5-5+c.525_528delGTCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1651594">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,35:53:99:1356,0,684:127	1|0:31,35:66:99:1360,0,1116:127	0|0:61,1:62:99:0,160,2534:127
11	1651599	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	A	5978.98	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=207;MQ=69.06;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);ExAC.Info.AC=10859;ExAC.Info.AN=95728;ExAC.Info.AF=0.113;ExAC.Info.AC_Het=9885;ExAC.Info.AC_Hom=479;snpeff.Effect=sequence_feature[repeat:5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530_555delGCTGCTGTAAGCCTTACTGCTGCCAG;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=KRTAP5-5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-5" target="_blank">KRTAP5-5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399676;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:8_X_4_AA_repeats_of_C-C-X-P];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.530_555delGCTGCTGTAAGCCTTACTGCTGCCAG;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=KRTAP5-5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-5" target="_blank">KRTAP5-5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399676;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=agctgctgtaagccttactgctgccag/;snpeff.Amino_Acid_Change=p.Ser177fs/c.530_555delGCTGCTGTAAGCCTTACTGCTGCCAG;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=KRTAP5-5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-5" target="_blank">KRTAP5-5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399676;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(KRTAP5-5|ENSG00000185940|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000399676;SAVANT_GENE=KRTAP5-5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-5" target="_blank">KRTAP5-5</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.530_555del26;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KRTAP5-5+c.530_555del26+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1651599">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,37:65:99:1329,0,1026:127	1|0:35,36:71:99:1352,0,1199:127	0|0:70,1:71:99:0,192,2925:127
11	1651613	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T	4020.98	VQSRTrancheINDEL99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=204;MQ=69.24;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);ExAC.Info.AC=48688;ExAC.Info.AN=110778;ExAC.Info.AF=0.440;ExAC.Info.AC_Het=43371;ExAC.Info.AC_Hom=6008;snpeff.Effect=sequence_feature[repeat:6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544_573delTACTGCTGCCAGTCCAGCTGCTGTAAGCCC;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=KRTAP5-5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-5" target="_blank">KRTAP5-5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399676;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:8_X_4_AA_repeats_of_C-C-X-P];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.544_573delTACTGCTGCCAGTCCAGCTGCTGTAAGCCC;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=KRTAP5-5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-5" target="_blank">KRTAP5-5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399676;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=tactgctgccagtccagctgctgtaagccc/;snpeff.Amino_Acid_Change=p.Tyr182_Pro191del/c.544_573delTACTGCTGCCAGTCCAGCTGCTGTAAGCCC;snpeff.Amino_Acid_length=237;snpeff.Gene_Name=KRTAP5-5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-5" target="_blank">KRTAP5-5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399676;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000399676;SAVANT_GENE=KRTAP5-5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRTAP5-5" target="_blank">KRTAP5-5</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.575_604del30_p.Tyr192_Pro201del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=KRTAP5-5+c.575_604del30+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1651613">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,217,3033:127	0|1:50,28:78:99:864,0,1890:127	0|1:20,33:53:99:1171,0,630:127
11	1770224	.	C	G	866.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs111693235;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111693235" target="_blank">rs111693235</a>;ExAC.Info.AC=2263;ExAC.Info.AN=10034;ExAC.Info.AF=0.226;ExAC.Info.AC_Het=57;ExAC.Info.AC_Hom=27;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.682-875G>C;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=RP11-295K3.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295K31" target="_blank">RP11-295K31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427721;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.85-875G>C;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=IFITM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295K31" target="_blank">RP11-295K31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340134;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.85C>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=IFITM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295K31" target="_blank">RP11-295K31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340134;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.85C>G;snpeff.Amino_Acid_length=228;snpeff.Gene_Name=IFITM10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295K31" target="_blank">RP11-295K31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340134;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340134:ENST00000427721;SAVANT_GENE=IFITM10:RP11-295K3.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFITM10:RP11-295K31" target="_blank">IFITM10:RP11-295K31</a>;SAVANT_INFO=-/18.2kb/3/3.7kb:-/11.4kb/6/1.1kb;SAVANT_LOC=In1/2:In5/6;SAVANT_HGVS=c.85-875G>C:c.684-875G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IFITM10:RP11-295K31+c.85-875G>C:c.684-875G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1770224">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1054:91	0|1:24,17:41:99:452,0,769:91	0|0:32,0:32:96:0,96,1055:91
11	1774934	.	A	G	1746.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs112379600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112379600" target="_blank">rs112379600</a>;ExAC.Info.AC=10017;ExAC.Info.AN=125890;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=8768;ExAC.Info.AC_Hom=439;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1072-34T>C;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681+99T>C;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=RP11-295K3.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427721;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1072A>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236671:ENST00000427721;SAVANT_GENE=CTSD:RP11-295K3.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD:RP11-295K31" target="_blank">CTSD:RP11-295K31</a>;SAVANT_INFO=-/11.2kb/9/2.1kb:-/11.4kb/6/1.1kb;SAVANT_LOC=In8/9:In5/6;SAVANT_HGVS=c.1072-34T>C:c.683+99T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSD:RP11-295K31+c.1072-34T>C:c.683+99T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1774934">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1815:116	0|1:31,26:57:99:892,0,1015:116	0|0:39,0:39:99:0,117,1424:116
11	1778885	.	C	T	2304.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs72850956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72850956" target="_blank">rs72850956</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.82-99G>A;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=RP11-295K3.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295K31" target="_blank">RP11-295K31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427721;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.472-99G>A;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295K31" target="_blank">RP11-295K31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.472C>T;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295K31" target="_blank">RP11-295K31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.472C>T;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295K31" target="_blank">RP11-295K31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.472C>T;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295K31" target="_blank">RP11-295K31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.472C>T;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295K31" target="_blank">RP11-295K31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.472C>T;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-295K31" target="_blank">RP11-295K31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236671:ENST00000427721;SAVANT_GENE=CTSD:RP11-295K3.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD:RP11-295K31" target="_blank">CTSD:RP11-295K31</a>;SAVANT_INFO=-/11.2kb/9/2.1kb:-/11.4kb/6/1.1kb;SAVANT_LOC=In4/5:In1/2;SAVANT_HGVS=c.472-99G>A:c.84-99G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSD:RP11-295K31+c.472-99G>A:c.84-99G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1778885">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2433:127	0|1:71,46:117:99:1171,0,2039:127	0|0:83,0:83:99:0,250,2975:127
11	1780205	.	A	G	3420.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11555039;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11555039" target="_blank">rs11555039</a>;ExAC.Info.AC=9867;ExAC.Info.AN=126690;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8968;ExAC.Info.AC_Hom=441;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000124646|RCV000116856;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465A>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465A>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465A>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465A>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465A>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr155Thr/c.465T>C;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr25Thr/c.75T>C;snpeff.Amino_Acid_length=377;snpeff.Gene_Name=RP11-295K3.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427721;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000236671:ENST00000427721;SAVANT_GENE=CTSD:RP11-295K3.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD:RP11-295K31" target="_blank">CTSD:RP11-295K31</a>;SAVANT_INFO=-/11.2kb/9/2.1kb:-/11.4kb/6/1.1kb;SAVANT_LOC=Ex4:Ex1;SAVANT_HGVS=c.465T>C_p.=:c.77T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSD:RP11-295K31+c.465T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1780205">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124646%20OR%20RCV000116856" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,352,4165:127	0|1:77,63:140:99:1729,0,2279:127	0|0:113,0:113:99:0,339,3967:127
11	1780867	.	G	A	1974.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs2230067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230067" target="_blank">rs2230067</a>;ExAC.Info.AC=8800;ExAC.Info.AN=126504;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=7956;ExAC.Info.AC_Hom=371;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000124637|RCV000116855;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.231G>A;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.231G>A;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala77Ala/c.231C>T;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.231C>T;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236671;SAVANT_GENE=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;SAVANT_INFO=-/11.2kb/9/2.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.231C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSD+c.231C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1780867">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124637%20OR%20RCV000116855" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1941:127	0|1:43,34:77:99:1006,0,1387:127	0|0:62,0:62:99:0,186,2306:127
11	1782594	.	G	A	3514.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17571" target="_blank">rs17571</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Alzheimer_disease|_association_with;hgmd_2014.2.OMIM_ID=116840;hgmd_2014.2.PubMed=10218883;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10218883" target="_blank">10218883</a>;ExAC.Info.AC=8843;ExAC.Info.AN=126666;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=8034;ExAC.Info.AC_Hom=377;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000124633|RCV000116853;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.893G>A;snpeff.Gene_Name=AC068580.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0685806" target="_blank">AC0685806</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000449248;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Activation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.173G>A;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0685806" target="_blank">AC0685806</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Activation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.173G>A;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0685806" target="_blank">AC0685806</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala58Val/c.173C>T;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0685806" target="_blank">AC0685806</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000236671;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000236671;SAVANT_GENE=CTSD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTSD" target="_blank">CTSD</a>;SAVANT_INFO=-/11.2kb/9/2.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.173C>T_p.Ala58Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTSD+c.173C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1782594">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000124633%20OR%20RCV000116853" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,317,3369:127	0|1:51,64:115:99:1776,0,1319:127	0|0:105,0:105:99:0,312,3373:127
11	1785401	.	T	C	244.78	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=27;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3)|Ceroid_lipofuscinosis|_neuronal|_10|_610127_(3);dbSNP139.ID=rs144932926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144932926" target="_blank">rs144932926</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144932926" target="_blank">rs144932926</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1785401">View</a>	GT:AD:DP:GQ:PL:TP	0|0:7,0:7:21:0,21,276:20	0|1:5,5:10:99:141,0,171:20	0|0:10,0:10:30:0,30,376:20
11	1853107	.	C	T	20361.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs616594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=616594" target="_blank">rs616594</a>;ExAC.Info.AC=13008;ExAC.Info.AN=16588;ExAC.Info.AF=0.784;ExAC.Info.AC_Het=1205;ExAC.Info.AC_Hom=2965;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT8+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1853107">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2068,195,0:127	1|1:0,89:89:99:3396,271,0:127	1|1:0,77:77:99:3109,235,0:127
11	1853121	.	C	T	4330.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs867839;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=867839" target="_blank">rs867839</a>;ExAC.Info.AC=3237;ExAC.Info.AN=17500;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=1175;ExAC.Info.AC_Hom=188;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT8+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1853121">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2209:127	0|1:47,35:82:99:915,0,1345:127	0|1:32,46:78:99:1270,0,810:127
11	1855854	.	G	C	15390.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2063551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2063551" target="_blank">rs2063551</a>;ExAC.Info.AC=92031;ExAC.Info.AN=122712;ExAC.Info.AF=0.750;ExAC.Info.AC_Het=13053;ExAC.Info.AC_Hom=21757;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.30+23G>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.31G>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.31G>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.31G>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381968;SAVANT_GENE=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;SAVANT_INFO=+/3.1kb/9/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.30+23G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT8+c.30+23G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1855854">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2512,228,0:127	1|0:33,48:81:99:1431,0,914:127	1|1:0,54:54:99:1846,162,0:127
11	1857112	.	C	A	8287.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs907606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=907606" target="_blank">rs907606</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=48699;ExAC.Info.AN=126362;ExAC.Info.AF=0.385;ExAC.Info.AC_Het=27947;ExAC.Info.AC_Hom=9979;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.301-4C>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301C>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301C>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301C>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301C>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301C>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301C>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301C>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301C>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381968;SAVANT_GENE=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;SAVANT_INFO=+/3.1kb/9/1.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.301-4C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT8+c.301-4C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1857112">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1307,126,0:125	1|0:31,25:56:99:668,0,948:125	1|0:21,26:47:99:728,0,673:125
11	1857173	.	T	C	26947.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs564271;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=564271" target="_blank">rs564271</a>;ExAC.Info.AC=125823;ExAC.Info.AN=126372;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=504;ExAC.Info.AC_Hom=61913;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys120Arg/c.358T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381968;SAVANT_GENE=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;SAVANT_INFO=+/3.1kb/9/1.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.358T>C_p.Cys120Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT8+c.358T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1857173">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:3226,276,0:127	1|1:0,107:107:99:3945,321,0:127	1|1:0,97:97:99:3556,291,0:127
11	1857243	.	G	A	3972.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs907608;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=907608" target="_blank">rs907608</a>;ExAC.Info.AC=18408;ExAC.Info.AN=126300;ExAC.Info.AF=0.146;ExAC.Info.AC_Het=15145;ExAC.Info.AC_Hom=1483;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.399+29G>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381968;SAVANT_GENE=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;SAVANT_INFO=+/3.1kb/9/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.399+29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT8+c.399+29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1857243">View</a>	GT:AD:DP:GQ:PL:TP	0|0:131,0:131:99:0,393,4452:127	0|0:160,0:160:99:0,481,5333:127	0|1:65,71:136:99:2005,0,1725:127
11	1857270	.	C	T	4048.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=413;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs907609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=907609" target="_blank">rs907609</a>;ExAC.Info.AC=19756;ExAC.Info.AN=125960;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=15769;ExAC.Info.AC_Hom=1599;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.399+56C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381968;SAVANT_GENE=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;SAVANT_INFO=+/3.1kb/9/1.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.399+56C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT8+c.399+56C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1857270">View</a>	GT:AD:DP:GQ:PL:TP	0|0:130,0:130:99:0,391,4423:127	0|0:152,0:152:99:0,456,5148:127	0|1:63,68:131:99:2043,0,1844:127
11	1857747	.	T	C	2718.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3741232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3741232" target="_blank">rs3741232</a>;ExAC.Info.AC=47981;ExAC.Info.AN=125568;ExAC.Info.AF=0.382;ExAC.Info.AC_Het=28165;ExAC.Info.AC_Hom=9032;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C2_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg217Arg/c.651T>C;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381968;SAVANT_GENE=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;SAVANT_INFO=+/3.1kb/9/1.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.651T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT8+c.651T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1857747">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,205,3263:127	0|0:104,0:104:99:0,313,4880:127	0|1:23,34:57:99:1378,0,977:127
11	1857751	.	C	G	2764.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3741231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3741231" target="_blank">rs3741231</a>;ExAC.Info.AC=47975;ExAC.Info.AN=125658;ExAC.Info.AF=0.382;ExAC.Info.AC_Het=28293;ExAC.Info.AC_Hom=9059;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.655C>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.655C>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.655C>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.655C>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.655C>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.655C>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.655C>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Gca;snpeff.Amino_Acid_Change=p.Pro219Ala/c.655C>G;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381968;SAVANT_GENE=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;SAVANT_INFO=+/3.1kb/9/1.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.655C>G_p.Pro219Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT8+c.655C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1857751">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,214,3365:127	0|0:101,0:101:99:0,319,4929:127	0|1:23,36:59:99:1401,0,942:127
11	1857762	.	C	T	5607.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3741230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3741230" target="_blank">rs3741230</a>;ExAC.Info.AC=13954;ExAC.Info.AN=125788;ExAC.Info.AF=0.111;ExAC.Info.AC_Het=11901;ExAC.Info.AC_Hom=878;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.666C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.666C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.666C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.666C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.666C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.666C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.666C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr222Thr/c.666C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381968;SAVANT_GENE=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;SAVANT_INFO=+/3.1kb/9/1.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.666C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT8+c.666C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1857762">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,21:69:99:565,0,1328:127	1|0:58,40:98:99:1132,0,1719:127	0|0:56,0:56:99:0,168,1712:127
11	1858572	.	C	T	6600.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2292474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292474" target="_blank">rs2292474</a>;ExAC.Info.AC=57346;ExAC.Info.AN=122890;ExAC.Info.AF=0.467;ExAC.Info.AC_Het=26524;ExAC.Info.AC_Hom=12769;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1117C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1117C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1117C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1117C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1117C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1117C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1117C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg373Trp/c.1117C>T;snpeff.Amino_Acid_length=401;snpeff.Gene_Name=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381968;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381968;SAVANT_GENE=SYT8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT8" target="_blank">SYT8</a>;SAVANT_INFO=+/3.1kb/9/1.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1117C>T_p.Arg373Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT8+c.1117C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1858572">View</a>	GT:AD:DP:GQ:PL:TP	0/1:34,26:60:99:744,0,1048:127	0/1:23,38:61:99:1280,0,733:127	0/1:20,27:47:99:884,0,614:127
11	1861760	.	T	C	11780.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Arthrogryposis_multiplex_congenita|_distal|_type_2B|_601680_(3);dbSNP139.ID=rs907610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=907610" target="_blank">rs907610</a>;ExAC.Info.AC=108708;ExAC.Info.AN=124730;ExAC.Info.AF=0.872;ExAC.Info.AC_Het=12345;ExAC.Info.AC_Hom=45547;Clinvar.ClinicalSignificance=Benign|Likely_benign;Clinvar.RCVaccession=RCV000128669|RCV000080081;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser20Ser/c.60T>C;snpeff.Amino_Acid_length=182;snpeff.Gene_Name=TNNI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNI2" target="_blank">TNNI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381905;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.60T>C;snpeff.Amino_Acid_length=182;snpeff.Gene_Name=TNNI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNI2" target="_blank">TNNI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381905;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381906;SAVANT_GENE=TNNI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNI2" target="_blank">TNNI2</a>;SAVANT_INFO=+/2.2kb/8/0.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.60T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNI2+c.60T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1861760">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128669%20OR%20RCV000080081" target="_blank">Benign|Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1910,150,0:98	1|0:35,32:67:99:986,0,1004:98	1|1:0,33:33:99:1248,99,0:98
11	1861912	.	G	A	3653.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Arthrogryposis_multiplex_congenita|_distal|_type_2B|_601680_(3);dbSNP139.ID=rs2271441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271441" target="_blank">rs2271441</a>;ExAC.Info.AC=22751;ExAC.Info.AN=125922;ExAC.Info.AF=0.181;ExAC.Info.AC_Het=17353;ExAC.Info.AC_Hom=2369;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000128664;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.186+26G>A;snpeff.Amino_Acid_length=182;snpeff.Gene_Name=TNNI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNI2" target="_blank">TNNI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381905;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381906;SAVANT_GENE=TNNI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNI2" target="_blank">TNNI2</a>;SAVANT_INFO=+/2.2kb/8/0.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.186+26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNI2+c.186+26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1861912">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128664" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	1|0:20,32:52:99:857,0,637:127	0|0:62,0:62:99:0,186,2182:127	1|0:20,23:43:99:607,0,566:127
11	1862168	.	C	T	4801.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=217;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Arthrogryposis_multiplex_congenita|_distal|_type_2B|_601680_(3);dbSNP139.ID=rs2271442;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271442" target="_blank">rs2271442</a>;ExAC.Info.AC=29491;ExAC.Info.AN=124588;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=19643;ExAC.Info.AC_Hom=3428;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.276+30C>T;snpeff.Amino_Acid_length=182;snpeff.Gene_Name=TNNI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNI2" target="_blank">TNNI2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381905;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381906;SAVANT_GENE=TNNI2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNI2" target="_blank">TNNI2</a>;SAVANT_INFO=+/2.2kb/8/0.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.276+30C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNI2+c.276+30C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1862168">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,44:82:99:1107,0,1129:127	1|0:34,36:70:99:1003,0,1133:127	0|0:65,0:65:99:0,195,2477:127
11	1880782	.	G	A	2840.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1879667;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1879667" target="_blank">rs1879667</a>;ExAC.Info.AC=347;ExAC.Info.AN=14456;ExAC.Info.AF=0.024;ExAC.Info.AC_Het=121;ExAC.Info.AC_Hom=8;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.53+6355G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.53+6355G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1880782">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,12:36:99:303,0,640:127	0|0:50,0:50:99:0,150,1593:127	1|0:28,18:46:99:457,0,846:127
11	1880811	.	G	A	4621.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs571122;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=571122" target="_blank">rs571122</a>;ExAC.Info.AC=2787;ExAC.Info.AN=8580;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=363;ExAC.Info.AC_Hom=288;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.53+6384G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.53+6384G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1880811">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,16:28:99:502,0,333:127	1|1:0,46:46:99:1489,138,0:127	0|0:43,0:43:99:0,129,1440:127
11	1887806	.	T	A	13409.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=186;MQ=69.90;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7938342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7938342" target="_blank">rs7938342</a>;ExAC.Info.AC=12128;ExAC.Info.AN=26836;ExAC.Info.AF=0.452;ExAC.Info.AC_Het=3979;ExAC.Info.AC_Hom=2493;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.239T>A;snpeff.Gene_Name=AC051649.12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC05164912" target="_blank">AC05164912</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000509204;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caT/caA;snpeff.Amino_Acid_Change=p.His34Gln/c.102T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC05164912" target="_blank">AC05164912</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.53+13379T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.53+13379T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1887806">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:1950,174,0:127	1|1:0,76:76:99:2603,228,0:127	1|0:26,26:52:99:813,0,749:127
11	1890821	.	G	A	5411.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs76085728;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76085728" target="_blank">rs76085728</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.437+2680G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.54-10496G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.54-10496G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1890821">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,22:48:99:819,0,1069:127	0|0:55,0:55:99:0,166,2468:127	1|0:16,30:46:99:1173,0,620:127
11	1890829	.	C	A	5706.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs74347575;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74347575" target="_blank">rs74347575</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.437+2688C>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.54-10488C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.54-10488C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1890829">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,22:54:99:841,0,1209:127	0|0:59,0:59:99:0,178,2625:127	1|0:18,30:48:99:1146,0,659:127
11	1890990	.	G	A	14708.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs592373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=592373" target="_blank">rs592373</a>;ExAC.Info.AC=10357;ExAC.Info.AN=21730;ExAC.Info.AF=0.477;ExAC.Info.AC_Het=3751;ExAC.Info.AC_Hom=2490;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.437+2849G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.54-10327G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.54-10327G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1890990">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2195,218,0:127	1|1:0,78:78:99:2570,234,0:127	1|0:23,32:55:99:821,0,667:127
11	1891722	.	C	T	2114.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs686722;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=686722" target="_blank">rs686722</a>;ExAC.Info.AC=3266;ExAC.Info.AN=19592;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=1217;ExAC.Info.AC_Hom=409;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.437+3581C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.54-9595C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.54-9595C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1891722">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,14:39:99:346,0,666:93	1|0:20,15:35:99:405,0,551:93	0|0:31,0:31:93:0,93,1114:93
11	1901233	.	A	G	36.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.438-84A>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.54-84A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.54-84A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1901233">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1778:37	0|0:62,0:62:99:0,186,2045:37	0|1:28,5:33:37:37,0,898:37
11	1902635	.	G	T	5035.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=54;MQ=69.67;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs536462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=536462" target="_blank">rs536462</a>;ExAC.Info.AC=102675;ExAC.Info.AN=108352;ExAC.Info.AF=0.948;ExAC.Info.AC_Het=1176;ExAC.Info.AC_Hom=14782;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.576-27G>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.192-27G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.192-27G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1902635">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,10:10:30:337,30,0:56	1|1:0,25:25:75:878,75,0:56	1|1:0,19:19:57:645,57,0:56
11	1902768	.	G	A	2469.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs621679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=621679" target="_blank">rs621679</a>;ExAC.Info.AC=31947;ExAC.Info.AN=106340;ExAC.Info.AF=0.300;ExAC.Info.AC_Het=5974;ExAC.Info.AC_Hom=1826;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala228Thr/c.682G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.298G>A_p.Ala100Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.298G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1902768">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,11:24:99:292,0,284:66	1|0:13,24:37:99:680,0,353:66	0|0:21,0:21:66:0,66,804:66
11	1902771	.	T	C	380.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=82;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs147746785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=147746785" target="_blank">rs147746785</a>;ExAC.Info.AC=1336;ExAC.Info.AN=111120;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=455;ExAC.Info.AC_Hom=6;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu229Leu/c.685T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.301T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.301T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1902771">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,897:71	0|0:36,0:36:99:0,111,1520:71	0|1:14,8:22:99:209,0,371:71
11	1905292	.	T	C	6151.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs661348;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=661348" target="_blank">rs661348</a>;ExAC.Info.AC=53032;ExAC.Info.AN=126628;ExAC.Info.AF=0.419;ExAC.Info.AC_Het=28157;ExAC.Info.AC_Hom=11870;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.975+38T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.591+38T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.591+38T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1905292">View</a>	GT:AD:DP:GQ:PL:TP	0|1:75,48:123:99:1209,0,2067:127	1|0:50,41:91:99:1212,0,1427:127	0|0:112,0:112:99:0,336,3657:127
11	1905653	.	G	C	1784.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs56024612;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56024612" target="_blank">rs56024612</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1020-77G>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604;SAVANT_GENE=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;SAVANT_INFO=+/39.3kb/11/1.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.636-77G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1+c.636-77G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1905653">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2540:127	0|1:36,30:66:99:911,0,1036:127	0|0:71,0:71:99:0,213,2541:127
11	1910635	.	C	T	2396.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs869444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=869444" target="_blank">rs869444</a>;ExAC.Info.AC=1691;ExAC.Info.AN=27588;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=986;ExAC.Info.AC_Hom=78;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*13+1829C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala394Thr/c.1180G>A;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=C11orf89;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391480;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604:ENST00000391480;SAVANT_GENE=LSP1:C11orf89;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1:C11orf89" target="_blank">LSP1:C11orf89</a>;SAVANT_INFO=+/39.3kb/11/1.7kb:-/1.7kb/1/1.7kb;SAVANT_LOC=3UTR:Ex1;SAVANT_HGVS=c.*1842C>T:c.1180G>A_p.Ala394Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=3PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1:C11orf89+c.*1842C>T:c.1180G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1910635">View</a>	GT:AD:DP:GQ:PL:TP	0|0:56,0:56:99:0,168,1901:127	0|1:32,42:74:99:1217,0,888:127	0|0:54,0:54:99:0,162,1838:127
11	1910707	.	T	C	12366.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs613638;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=613638" target="_blank">rs613638</a>;ExAC.Info.AC=14457;ExAC.Info.AN=15028;ExAC.Info.AF=0.962;ExAC.Info.AC_Het=61;ExAC.Info.AC_Hom=1203;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*13+1901T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr370Ala/c.1108A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=C11orf89;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391480;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604:ENST00000391480;SAVANT_GENE=LSP1:C11orf89;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1:C11orf89" target="_blank">LSP1:C11orf89</a>;SAVANT_INFO=+/39.3kb/11/1.7kb:-/1.7kb/1/1.7kb;SAVANT_LOC=3UTR:Ex1;SAVANT_HGVS=c.*1914T>C:c.1108A>G_p.Thr370Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=3PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1:C11orf89+c.*1914T>C:c.1108A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1910707">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1512,126,0:122	1|1:0,70:70:99:2287,209,0:122	1|1:0,41:41:99:1430,122,0:122
11	1911115	.	T	C	12322.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11041692;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11041692" target="_blank">rs11041692</a>;ExAC.Info.AC=16063;ExAC.Info.AN=18140;ExAC.Info.AF=0.886;ExAC.Info.AC_Het=338;ExAC.Info.AC_Hom=1753;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*14-1888T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=LSP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381775;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr234Ala/c.700A>G;snpeff.Amino_Acid_length=479;snpeff.Gene_Name=C11orf89;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1" target="_blank">LSP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000391480;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311604:ENST00000391480;SAVANT_GENE=LSP1:C11orf89;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LSP1:C11orf89" target="_blank">LSP1:C11orf89</a>;SAVANT_INFO=+/39.3kb/11/1.7kb:-/1.7kb/1/1.7kb;SAVANT_LOC=3UTR:Ex1;SAVANT_HGVS=c.*2322T>C:c.700A>G_p.Thr234Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=3PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LSP1:C11orf89+c.*2322T>C:c.700A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1911115">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1210,110,0:127	1|1:0,67:67:99:2305,201,0:127	1|1:0,43:43:99:1473,129,0:127
11	1944202	.	A	G	22724.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Arthyrgryposis|_distal|_type_2B|_601680_(3);dbSNP139.ID=rs965912;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=965912" target="_blank">rs965912</a>;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000024564;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.18-76A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397301;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278317;SAVANT_GENE=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;SAVANT_INFO=+/19.1kb/16/1.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.18-76A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT3+c.18-76A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1944202">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024564" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3550,283,0:127	1|1:0,89:89:99:3473,268,0:127	1|1:0,75:75:99:2777,225,0:127
11	1947789	.	G	A	7650.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Arthyrgryposis|_distal|_type_2B|_601680_(3);dbSNP139.ID=rs6578952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6578952" target="_blank">rs6578952</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.100+78G>A;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397301;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278317;SAVANT_GENE=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;SAVANT_INFO=+/19.1kb/16/1.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.68-136G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT3+c.68-136G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1947789">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,40:76:99:1178,0,1401:127	0|0:103,2:105:99:0,266,4226:127	1|1:1,71:72:99:2548,206,0:127
11	1950302	.	A	G	36818.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=454;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Arthyrgryposis|_distal|_type_2B|_601680_(3);dbSNP139.ID=rs629990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=629990" target="_blank">rs629990</a>;ExAC.Info.AC=102179;ExAC.Info.AN=126628;ExAC.Info.AF=0.807;ExAC.Info.AC_Het=18823;ExAC.Info.AC_Hom=41233;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.116-48A>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397301;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278317;SAVANT_GENE=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;SAVANT_INFO=+/19.1kb/16/1.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.83-48A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT3+c.83-48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1950302">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,164:164:99:5203,492,0:127	1|1:0,153:153:99:5101,459,0:127	1|1:0,137:137:99:4532,412,0:127
11	1950906	.	T	G	9167.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Arthyrgryposis|_distal|_type_2B|_601680_(3);dbSNP139.ID=rs2292473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292473" target="_blank">rs2292473</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.140-134T>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397301;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278317;SAVANT_GENE=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;SAVANT_INFO=+/19.1kb/16/1.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.107-134T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT3+c.107-134T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1950906">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1218,87,0:39	1|1:0,42:42:99:1882,129,0:39	1|1:0,12:12:39:568,39,0:39
11	1950925	.	T	C	10861.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=107;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Arthyrgryposis|_distal|_type_2B|_601680_(3);dbSNP139.ID=rs2292471;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292471" target="_blank">rs2292471</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.140-115T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397301;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278317;SAVANT_GENE=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;SAVANT_INFO=+/19.1kb/16/1.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.107-115T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT3+c.107-115T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1950925">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,34:34:99:1422,102,0:51	1|1:0,56:56:99:2332,168,0:51	1|1:0,17:17:51:712,51,0:51
11	1956212	.	T	C	19328.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Arthyrgryposis|_distal|_type_2B|_601680_(3);dbSNP139.ID=rs513735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=513735" target="_blank">rs513735</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.714+63T>C;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397301;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278317;SAVANT_GENE=TNNT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNT3" target="_blank">TNNT3</a>;SAVANT_INFO=+/19.1kb/16/1.2kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.681+63T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNNT3+c.681+63T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1956212">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2090,159,0:127	1|1:0,81:81:99:3016,243,0:127	1|1:0,64:64:99:2466,192,0:127
11	1961869	.	T	C	15671.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=300;MQ=69.97;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs11041941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11041941" target="_blank">rs11041941</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11041941" target="_blank">rs11041941</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1961869">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,24:82:99:643,0,1605:127	1|1:0,123:123:99:4254,370,0:127	0|1:50,45:95:99:1314,0,1318:127
11	1972143	.	G	A	7537.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=306;MQ=69.98;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34134444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34134444" target="_blank">rs34134444</a>;ExAC.Info.AC=7045;ExAC.Info.AN=126690;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=6298;ExAC.Info.AC_Hom=365;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg11Gln/c.32G>A;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=MRPL23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL23" target="_blank">MRPL23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397297;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397298;SAVANT_GENE=MRPL23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL23" target="_blank">MRPL23</a>;SAVANT_INFO=+/9.3kb/5/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.32G>A_p.Arg11Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL23+c.32G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1972143">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,58:110:99:1579,0,1360:127	0|0:112,0:112:99:0,337,3808:127	1|0:38,46:84:99:1373,0,1060:127
11	1972205	.	G	A	5153.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2240197;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2240197" target="_blank">rs2240197</a>;ExAC.Info.AC=6810;ExAC.Info.AN=126612;ExAC.Info.AF=0.054;ExAC.Info.AC_Het=5955;ExAC.Info.AC_Hom=332;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Agt;snpeff.Amino_Acid_Change=p.Gly32Ser/c.94G>A;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=MRPL23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL23" target="_blank">MRPL23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397297;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397298;SAVANT_GENE=MRPL23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL23" target="_blank">MRPL23</a>;SAVANT_INFO=+/9.3kb/5/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.94G>A_p.Gly32Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL23+c.94G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1972205">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,41:72:99:1128,0,894:127	0|0:58,0:58:99:0,174,1999:127	1|0:24,30:54:99:819,0,770:127
11	1976988	.	A	G	18037.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs177720;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=177720" target="_blank">rs177720</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.297+2903A>G;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=MRPL23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL23" target="_blank">MRPL23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397297;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397298;SAVANT_GENE=MRPL23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL23" target="_blank">MRPL23</a>;SAVANT_INFO=+/9.3kb/5/0.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.298-498A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL23+c.298-498A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1976988">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1984,168,0:127	1|1:0,83:83:99:2857,249,0:127	1|1:0,62:62:99:2241,185,0:127
11	1983508	.	C	T	1358.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs117979807;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=117979807" target="_blank">rs117979807</a>;ExAC.Info.AC=117;ExAC.Info.AN=32716;ExAC.Info.AF=3.576e-03;ExAC.Info.AC_Het=96;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.297+9423C>T;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=MRPL23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL23" target="_blank">MRPL23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397297;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL23" target="_blank">MRPL23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1983508">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2024:127	0|0:99,0:99:99:0,297,3217:127	0|1:26,25:51:99:698,0,749:127
11	1993975	.	C	A	9537.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs190063;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=190063" target="_blank">rs190063</a>;ExAC.Info.AC=13682;ExAC.Info.AN=19282;ExAC.Info.AF=0.710;ExAC.Info.AC_Het=3063;ExAC.Info.AC_Hom=4077;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Agt;snpeff.Amino_Acid_Change=p.Arg162Ser/c.484C>A;snpeff.Amino_Acid_length=191;snpeff.Gene_Name=MRPL23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL23" target="_blank">MRPL23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397297;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL23" target="_blank">MRPL23</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL23+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:1993975">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1066,93,0:110	1|1:0,45:45:99:1483,135,0:110	1|1:0,37:37:99:1217,111,0:110
11	2016619	.	A	G	2456.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);dbSNP139.ID=rs3741219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3741219" target="_blank">rs3741219</a>;ExAC.Info.AC=48388;ExAC.Info.AN=117080;ExAC.Info.AF=0.413;ExAC.Info.AC_Het=26123;ExAC.Info.AC_Hom=10395;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2135T>C;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2016619">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1547:127	0|1:38,25:63:99:718,0,1254:127	0|1:15,16:31:99:530,0,483:127
11	2016659	.	T	C	2940.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);dbSNP139.ID=rs2839704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2839704" target="_blank">rs2839704</a>;ExAC.Info.AC=38529;ExAC.Info.AN=117620;ExAC.Info.AF=0.328;ExAC.Info.AC_Het=24793;ExAC.Info.AC_Hom=6025;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2095A>G;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2016659">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,202,3152:127	0|1:40,22:62:99:800,0,1809:127	0|1:22,18:40:99:690,0,1024:127
11	2016662	.	T	C	2934.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);dbSNP139.ID=rs2839703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2839703" target="_blank">rs2839703</a>;ExAC.Info.AC=38531;ExAC.Info.AN=117696;ExAC.Info.AF=0.327;ExAC.Info.AC_Het=24789;ExAC.Info.AC_Hom=6016;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2092A>G;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2016662">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,205,3197:127	0|1:39,22:61:99:800,0,1809:127	0|1:23,18:41:99:687,0,1066:127
11	2016924	.	A	G	2258.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);dbSNP139.ID=rs10840159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10840159" target="_blank">rs10840159</a>;ExAC.Info.AC=49470;ExAC.Info.AN=120802;ExAC.Info.AF=0.410;ExAC.Info.AC_Het=26154;ExAC.Info.AC_Hom=10851;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1830T>C;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2016924">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1765:127	0|1:31,20:51:99:566,0,1001:127	0|1:25,18:43:99:583,0,763:127
11	2017017	.	A	C	2658.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);dbSNP139.ID=rs2839702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2839702" target="_blank">rs2839702</a>;ExAC.Info.AC=49598;ExAC.Info.AN=120530;ExAC.Info.AF=0.411;ExAC.Info.AC_Het=26114;ExAC.Info.AC_Hom=10817;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1737T>G;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2017017">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1910:127	0|1:40,32:72:99:847,0,1084:127	0|1:25,17:42:99:502,0,760:127
11	2017110	.	C	G	3118.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);dbSNP139.ID=rs2839701;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2839701" target="_blank">rs2839701</a>;ExAC.Info.AC=48736;ExAC.Info.AN=119298;ExAC.Info.AF=0.409;ExAC.Info.AC_Het=26281;ExAC.Info.AC_Hom=10786;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1725G>C;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2017110">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2469:127	0|1:50,34:84:99:963,0,1684:127	0|1:34,21:55:99:616,0,1090:127
11	2017439	.	C	G	2806.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);dbSNP139.ID=rs3024270;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3024270" target="_blank">rs3024270</a>;ExAC.Info.AC=50156;ExAC.Info.AN=115994;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=18454;ExAC.Info.AC_Hom=8189;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1494-18G>C;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2017439">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2439:127	0|1:37,25:62:99:736,0,1126:127	0|1:21,22:43:99:687,0,605:127
11	2017799	.	C	T	708.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=90;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1307G>A;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2017799">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1173:71	0|1:23,12:35:99:373,0,720:71	0|0:24,0:24:72:0,72,917:71
11	2018168	.	C	T	4224.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);dbSNP139.ID=rs2067051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2067051" target="_blank">rs2067051</a>;ExAC.Info.AC=11518;ExAC.Info.AN=37984;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=3678;ExAC.Info.AC_Hom=1329;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.938G>A;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2018168">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2358:127	0|1:53,55:108:99:1472,0,1583:127	0|1:24,23:47:99:660,0,716:127
11	2018336	.	A	T	4304.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);dbSNP139.ID=rs2075745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075745" target="_blank">rs2075745</a>;ExAC.Info.AC=8654;ExAC.Info.AN=27818;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=3483;ExAC.Info.AC_Hom=1253;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.770T>A;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2018336">View</a>	GT:AD:DP:GQ:PL:TP	0|0:47,0:47:99:0,141,1625:127	0|1:33,42:75:99:1332,0,974:127	0|1:20,26:46:99:840,0,571:127
11	2018449	.	A	G	3938.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);dbSNP139.ID=rs2075744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2075744" target="_blank">rs2075744</a>;ExAC.Info.AC=8300;ExAC.Info.AN=27412;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=3081;ExAC.Info.AC_Hom=1041;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.657T>C;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2018449">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,179,1885:127	0|1:41,38:79:99:1183,0,1091:127	0|1:24,25:49:99:806,0,589:127
11	2018853	.	G	A	5130.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|_Silver-Russell_syndrome|_180860_(3)|_Wilms_tumor_2|_194071_(3);dbSNP139.ID=rs2839698;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2839698" target="_blank">rs2839698</a>;ExAC.Info.AC=6513;ExAC.Info.AN=20710;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=2699;ExAC.Info.AC_Hom=878;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.253C>T;snpeff.Gene_Name=H19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000414790;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=H19" target="_blank">H19</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=H19+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2018853">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1937:127	0|1:47,58:105:99:1714,0,1357:127	0|1:23,29:52:99:871,0,704:127
11	2156536	.	G	A	2518.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=47;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3)|Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3);dbSNP139.ID=rs3213225;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3213225" target="_blank">rs3213225</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.325+61C>T;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000434045;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326G>A;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000434045;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326G>A;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000434045;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326G>A;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000434045;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326G>A;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000434045;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000434045;SAVANT_GENE=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2" target="_blank">IGF2</a>;SAVANT_INFO=-/8.7kb/5/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.325+61C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGF2+c.325+61C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2156536">View</a>	GT:AD:DP:GQ:PL:TP	0|1:2,12:14:27:398,0,27:44	1|1:0,18:18:54:697,54,0:44	0|0:15,0:15:45:0,45,510:44
11	2161858	.	A	G	6496.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3)|Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3);dbSNP139.ID=rs3741212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3741212" target="_blank">rs3741212</a>;ExAC.Info.AC=80487;ExAC.Info.AN=115764;ExAC.Info.AF=0.695;ExAC.Info.AC_Het=18202;ExAC.Info.AC_Hom=24257;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.112A>G;snpeff.Gene_Name=IGF2-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000381361;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-4+229T>C;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000434045;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000434045;SAVANT_GENE=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2" target="_blank">IGF2</a>;SAVANT_INFO=-/8.7kb/5/1.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-332T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGF2+c.-332T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2161858">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,27:27:81:955,81,0:80	1|1:0,36:36:99:1303,108,0:80	1|0:26,8:34:99:207,0,796:80
11	2161955	.	C	T	544.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3)|Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12807478;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12807478" target="_blank">rs12807478</a>;ExAC.Info.AC=2169;ExAC.Info.AN=109800;ExAC.Info.AF=0.020;ExAC.Info.AC_Het=1415;ExAC.Info.AC_Hom=19;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.209C>T;snpeff.Gene_Name=IGF2-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000381361;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-4+132G>A;snpeff.Amino_Acid_length=236;snpeff.Gene_Name=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000434045;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000434045:ENST00000381363;SAVANT_GENE=IGF2:IGF2-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2:IGF2-AS" target="_blank">IGF2:IGF2-AS</a>;SAVANT_INFO=-/8.7kb/5/1.6kb:+/7.2kb/2/1.9kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-429G>A:c.82C>T_p.Pro28Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGF2:IGF2-AS+c.-429G>A:c.82C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2161955">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,871:71	0|1:21,12:33:99:291,0,645:71	0|0:31,0:31:93:0,93,1093:71
11	2167543	.	T	G	27398.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=391;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3)|Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1003483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1003483" target="_blank">rs1003483</a>;ExAC.Info.AC=56981;ExAC.Info.AN=125448;ExAC.Info.AF=0.454;ExAC.Info.AC_Het=28957;ExAC.Info.AC_Hom=13938;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.500T>G;snpeff.Gene_Name=IGF2-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000381361;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381363;SAVANT_GENE=IGF2-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;SAVANT_INFO=+/7.2kb/2/1.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.373T>G_p.Phe125Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGF2-AS+c.373T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2167543">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,120:121:99:3773,353,0:127	1|1:0,159:159:99:5235,477,0:127	1|0:62,49:111:99:1254,0,1584:127
11	2167618	.	A	G	14672.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3)|Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1003484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1003484" target="_blank">rs1003484</a>;ExAC.Info.AC=85668;ExAC.Info.AN=125212;ExAC.Info.AF=0.684;ExAC.Info.AC_Het=24857;ExAC.Info.AC_Hom=30061;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.575A>G;snpeff.Gene_Name=IGF2-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000381361;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381363;SAVANT_GENE=IGF2-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;SAVANT_INFO=+/7.2kb/2/1.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.448A>G_p.Thr150Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGF2-AS+c.448A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2167618">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2029,171,0:127	1|1:0,64:64:99:2506,193,0:127	1|1:0,53:53:99:1976,159,0:127
11	2169014	.	A	G	5049.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=61;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3)|Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10770125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10770125" target="_blank">rs10770125</a>;ExAC.Info.AC=11591;ExAC.Info.AN=40684;ExAC.Info.AF=0.285;ExAC.Info.AC_Het=2244;ExAC.Info.AC_Hom=966;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1181A>G;snpeff.Gene_Name=IGF2-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000381361;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTt/cCt;snpeff.Amino_Acid_Change=p.Leu144Pro/c.431T>C;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS" target="_blank">IGF2-AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397270;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381363:ENST00000397270;SAVANT_GENE=IGF2-AS:INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGF2-AS:INS-IGF2" target="_blank">IGF2-AS:INS-IGF2</a>;SAVANT_INFO=+/7.2kb/2/1.9kb:-/14.6kb/5/0.8kb;SAVANT_LOC=3UTR:Ex4;SAVANT_HGVS=c.*1337A>G:c.431T>C_p.Leu144Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=3PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGF2-AS:INS-IGF2+c.*1337A>G:c.431T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2169014">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:715,60,0:59	1|1:0,22:22:66:828,66,0:59	1|0:10,9:19:99:284,0,251:59
11	2181060	.	T	G	32381.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3)|Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3842753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3842753" target="_blank">rs3842753</a>;ExAC.Info.AC=89386;ExAC.Info.AN=124558;ExAC.Info.AF=0.718;ExAC.Info.AC_Het=19802;ExAC.Info.AC_Hom=31491;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.187+955A>C;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=22;snpeff.Amino_Acid_Change=c.*22A>C;snpeff.Amino_Acid_length=110;snpeff.Gene_Name=INS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397262;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397262:ENST00000397270;SAVANT_GENE=INS:INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS:INS-IGF2" target="_blank">INS:INS-IGF2</a>;SAVANT_INFO=-/1.4kb/2/0.6kb:-/14.6kb/5/0.8kb;SAVANT_LOC=3UTR:In2/3;SAVANT_HGVS=c.*22A>C:c.187+955A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INS:INS-IGF2+c.*22A>C:c.187+955A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2181060">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,127:127:99:4354,381,0:127	1|1:0,170:170:99:5692,511,0:127	1|0:55,88:143:99:2588,0,1950:127
11	2181073	.	G	A	2684.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3)|Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3842752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3842752" target="_blank">rs3842752</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Prostate_cancer|_reduced_risk|_association_with;hgmd_2014.2.OMIM_ID=176730;hgmd_2014.2.PubMed=12610512;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12610512" target="_blank">12610512</a>;ExAC.Info.AC=21368;ExAC.Info.AN=125296;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=16098;ExAC.Info.AC_Hom=2087;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.187+942C>T;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=9;snpeff.Amino_Acid_Change=c.*9C>T;snpeff.Amino_Acid_length=110;snpeff.Gene_Name=INS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397262;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397262:ENST00000397270;SAVANT_GENE=INS:INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS:INS-IGF2" target="_blank">INS:INS-IGF2</a>;SAVANT_INFO=-/1.4kb/2/0.6kb:-/14.6kb/5/0.8kb;SAVANT_LOC=3UTR:In2/3;SAVANT_HGVS=c.*9C>T:c.187+942C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INS:INS-IGF2+c.*9C>T:c.187+942C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2181073">View</a>	GT:AD:DP:GQ:PL:TP	0|0:127,0:127:99:0,388,5478:127	0|0:170,0:170:99:0,521,7368:127	0|1:91,57:148:99:1361,0,3508:127
11	2182004	.	A	G	15530.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3)|Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3);dbSNP139.ID=rs5506;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5506" target="_blank">rs5506</a>;ExAC.Info.AC=122537;ExAC.Info.AN=125016;ExAC.Info.AF=0.980;ExAC.Info.AC_Het=1918;ExAC.Info.AC_Hom=59376;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.187+11T>C;snpeff.Amino_Acid_length=110;snpeff.Gene_Name=INS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS" target="_blank">INS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397262;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.187+11T>C;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS" target="_blank">INS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397270;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397262:ENST00000397270;SAVANT_GENE=INS:INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS:INS-IGF2" target="_blank">INS:INS-IGF2</a>;SAVANT_INFO=-/1.4kb/2/0.6kb:-/14.6kb/5/0.8kb;SAVANT_LOC=In1/2:In2/3;SAVANT_HGVS=c.187+11T>C:c.187+11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS:SS;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INS:INS-IGF2+c.187+11T>C:c.187+11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2182004">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:1994,177,0:127	1|1:0,72:72:99:2435,216,0:127	1|1:0,59:59:99:1918,177,0:127
11	2182224	.	A	T	14398.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3)|Hyperproinsulinemia|_familial|_with_or_without_diabetes_(3)|_Maturity-onset_diabetes_of_the_young|_type_10|_613370_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_type_1|_125852_(3)|_Diabetes_mellitus|_insulin-dependent|_2|_125852_(3);dbSNP139.ID=rs689;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=689" target="_blank">rs689</a>;ExAC.Info.AC=89663;ExAC.Info.AN=124348;ExAC.Info.AF=0.721;ExAC.Info.AC_Het=20993;ExAC.Info.AC_Hom=32763;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-17-6T>A;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=23;snpeff.Amino_Acid_Change=c.-23T>A;snpeff.Amino_Acid_length=110;snpeff.Gene_Name=INS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397262;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1T>A;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS-IGF2" target="_blank">INS-IGF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397262:ENST00000397270;SAVANT_GENE=INS:INS-IGF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INS:INS-IGF2" target="_blank">INS:INS-IGF2</a>;SAVANT_INFO=-/1.4kb/2/0.6kb:-/14.6kb/5/0.8kb;SAVANT_LOC=5UTR:5UTR;SAVANT_HGVS=c.-23T>A:c.-23T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INS:INS-IGF2+c.-23T>A:c.-23T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2182224">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2137,198,0:127	1|1:0,66:66:99:2198,198,0:127	1|0:37,22:59:99:537,0,1082:127
11	2186889	.	G	A	808.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Segawa_syndrome|_recessive|_605407_(3);dbSNP139.ID=rs11564717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11564717" target="_blank">rs11564717</a>;ExAC.Info.AC=1270;ExAC.Info.AN=125674;ExAC.Info.AF=0.010;ExAC.Info.AC_Het=1230;ExAC.Info.AC_Hom=11;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1293+9C>T;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1294G>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1294G>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381178;SAVANT_GENE=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;SAVANT_INFO=-/7.9kb/14/1.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1293+9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TH+c.1293+9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2186889">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1633:127	0|0:73,0:73:99:0,219,2597:127	0|1:18,15:33:99:423,0,549:127
11	2187855	.	G	C	8006.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Segawa_syndrome|_recessive|_605407_(3);dbSNP139.ID=rs12419447;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12419447" target="_blank">rs12419447</a>;ExAC.Info.AC=28546;ExAC.Info.AN=117656;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=10783;ExAC.Info.AC_Hom=2626;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1070+8C>G;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1071C>G;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381178;SAVANT_GENE=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;SAVANT_INFO=-/7.9kb/14/1.9kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1070+8C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TH+c.1070+8C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2187855">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,25:53:99:813,0,896:127	0/1:16,40:56:99:1354,0,481:127	0/1:28,35:63:99:1020,0,752:127
11	2188238	.	C	T	5858.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Segawa_syndrome|_recessive|_605407_(3);dbSNP139.ID=rs6357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6357" target="_blank">rs6357</a>;ExAC.Info.AC=25324;ExAC.Info.AN=122748;ExAC.Info.AF=0.206;ExAC.Info.AC_Het=12173;ExAC.Info.AC_Hom=2133;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.813C>T;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.813C>T;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys271Lys/c.813G>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381178;SAVANT_GENE=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;SAVANT_INFO=-/7.9kb/14/1.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.813G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TH+c.813G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2188238">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,27:59:99:737,0,922:127	0/1:26,24:50:99:706,0,759:127	0/1:27,24:51:99:671,0,774:127
11	2189185	.	G	A	4331.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Segawa_syndrome|_recessive|_605407_(3);dbSNP139.ID=rs4074905;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4074905" target="_blank">rs4074905</a>;ExAC.Info.AC=88667;ExAC.Info.AN=125390;ExAC.Info.AF=0.707;ExAC.Info.AC_Het=22280;ExAC.Info.AC_Hom=30516;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.670-22C>T;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.670G>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.670G>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381178;SAVANT_GENE=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;SAVANT_INFO=-/7.9kb/14/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.670-22C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TH+c.670-22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2189185">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,20:45:99:615,0,732:127	0/1:26,22:48:99:667,0,850:127	0/1:22,16:38:99:520,0,702:127
11	2190951	.	C	T	4511.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Segawa_syndrome|_recessive|_605407_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6356" target="_blank">rs6356</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Alcoholism|_association_with;hgmd_2014.2.OMIM_ID=191290;hgmd_2014.2.PubMed=22560290;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=22560290" target="_blank">22560290</a>;ExAC.Info.AC=53356;ExAC.Info.AN=126402;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=27683;ExAC.Info.AC_Hom=12563;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000021078;Clinvar.PhenotypeIDs=GeneReviews:NBK1437|MedGen:C1854299|OMIM:605407|Orphanet:ORPHA101150;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val112Met/c.334G>A;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381178;SAVANT_GENE=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;SAVANT_INFO=-/7.9kb/14/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.334G>A_p.Val112Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TH+c.334G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2190951">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000021078" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:47,25:72:99:568,0,1332:127	0|0:72,1:73:99:0,179,2426:127	1|0:22,31:53:99:789,0,616:127
11	2191155	.	T	C	13008.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Segawa_syndrome|_recessive|_605407_(3);dbSNP139.ID=rs7925375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7925375" target="_blank">rs7925375</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.184-54A>G;snpeff.Amino_Acid_length=528;snpeff.Gene_Name=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000381178;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000381178;SAVANT_GENE=TH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TH" target="_blank">TH</a>;SAVANT_INFO=-/7.9kb/14/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.184-54A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TH+c.184-54A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2191155">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2249,204,0:127	1|0:47,33:80:99:952,0,1305:127	1|1:0,53:53:99:1847,159,0:127
11	2194390	.	G	A	796.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10840491;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10840491" target="_blank">rs10840491</a>;ExAC.Info.AC=255;ExAC.Info.AN=7114;ExAC.Info.AF=0.036;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=0;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10840491" target="_blank">rs10840491</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2194390">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1356:65	0|1:15,13:28:99:417,0,509:65	0|0:22,0:22:66:0,66,721:65
11	2323022	.	C	T	4610.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12276847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12276847" target="_blank">rs12276847</a>;ExAC.Info.AC=7623;ExAC.Info.AN=31014;ExAC.Info.AF=0.246;ExAC.Info.AC_Het=4563;ExAC.Info.AC_Hom=1013;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val24Met/c.70G>A;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=C11orf21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf21" target="_blank">C11orf21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456145;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456145;SAVANT_GENE=C11orf21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf21" target="_blank">C11orf21</a>;SAVANT_INFO=-/4.7kb/5/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.70G>A_p.Val24Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf21+c.70G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2323022">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1758:127	0|1:39,43:82:99:1176,0,1243:127	0|1:18,39:57:99:1149,0,565:127
11	2323029	.	T	C	18715.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs756924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=756924" target="_blank">rs756924</a>;ExAC.Info.AC=24089;ExAC.Info.AN=28422;ExAC.Info.AF=0.848;ExAC.Info.AC_Het=2347;ExAC.Info.AC_Hom=9089;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly21Gly/c.63A>G;snpeff.Amino_Acid_length=178;snpeff.Gene_Name=C11orf21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf21" target="_blank">C11orf21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000456145;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000456145;SAVANT_GENE=C11orf21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf21" target="_blank">C11orf21</a>;SAVANT_INFO=-/4.7kb/5/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.63A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf21+c.63A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2323029">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1721,144,0:127	1|1:0,81:81:99:3332,244,0:127	1|1:0,59:59:99:2521,178,0:127
11	2324692	.	C	T	4206.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1501467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1501467" target="_blank">rs1501467</a>;ExAC.Info.AC=1664;ExAC.Info.AN=14032;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=367;ExAC.Info.AC_Hom=71;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.181+504C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000182290;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.182C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000182290;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.182C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000182290;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000182290;SAVANT_GENE=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;SAVANT_INFO=+/16.1kb/10/1.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.181+504C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN32+c.181+504C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2324692">View</a>	GT:AD:DP:GQ:PL:TP	0|0:70,0:70:99:0,210,2376:127	0|1:25,36:61:99:1071,0,807:127	0|1:41,39:80:99:1052,0,1140:127
11	2329995	.	C	T	10149.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11554947;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11554947" target="_blank">rs11554947</a>;ExAC.Info.AC=89497;ExAC.Info.AN=121708;ExAC.Info.AF=0.735;ExAC.Info.AC_Het=9865;ExAC.Info.AC_Hom=20303;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.309C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000182290;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.309C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000182290;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys103Cys/c.309C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000182290;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000182290;SAVANT_GENE=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;SAVANT_INFO=+/16.1kb/10/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.309C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN32+c.309C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2329995">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1270,117,0:104	1|1:0,47:47:99:1573,141,0:104	1|1:0,35:35:99:1123,105,0:104
11	2330077	.	C	G	9936.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2234297;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234297" target="_blank">rs2234297</a>;ExAC.Info.AC=70863;ExAC.Info.AN=101464;ExAC.Info.AF=0.698;ExAC.Info.AC_Het=4218;ExAC.Info.AC_Hom=8575;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.354+37C>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000182290;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000182290;SAVANT_GENE=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;SAVANT_INFO=+/16.1kb/10/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.354+37C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN32+c.354+37C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2330077">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1141,93,0:89	1|1:0,43:43:99:1428,129,0:89	1|1:0,30:30:90:1100,90,0:89
11	2330479	.	G	A	13538.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2521274;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2521274" target="_blank">rs2521274</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.354+439G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000182290;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000182290;SAVANT_GENE=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;SAVANT_INFO=+/16.1kb/10/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.354+439G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN32+c.354+439G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2330479">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1758,153,0:127	1|1:0,55:55:99:2013,165,0:127	1|1:0,44:44:99:1667,132,0:127
11	2330563	.	C	T	14889.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2521275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2521275" target="_blank">rs2521275</a>;ExAC.Info.AC=14704;ExAC.Info.AN=19870;ExAC.Info.AF=0.740;ExAC.Info.AC_Het=2492;ExAC.Info.AC_Hom=4956;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.354+523C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000182290;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000182290;SAVANT_GENE=TSPAN32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN32" target="_blank">TSPAN32</a>;SAVANT_INFO=+/16.1kb/10/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.354+523C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN32+c.354+523C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2330563">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1643,141,0:127	1|1:0,65:65:99:2379,195,0:127	1|1:0,53:53:99:1908,159,0:127
11	2356603	.	T	C	18214.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=226;MQ=68.66;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2651795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2651795" target="_blank">rs2651795</a>;ExAC.Info.AC=97394;ExAC.Info.AN=126694;ExAC.Info.AF=0.769;ExAC.Info.AC_Het=20946;ExAC.Info.AC_Hom=38013;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.404A>G;snpeff.Gene_Name=RPL26P30;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL26P30" target="_blank">RPL26P30</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000602923;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.408-354A>G;snpeff.Gene_Name=AC129929.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL26P30" target="_blank">RPL26P30</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413483;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL26P30" target="_blank">RPL26P30</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPL26P30+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2356603">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2629,225,0:127	1|1:0,83:83:99:3047,249,0:127	1|1:0,68:68:99:2473,204,0:127
11	2400338	.	C	G	11384.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=140;MQ=69.80;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Immunodeficiency|_common_variable|_6|_613496_(3);dbSNP139.ID=rs2651796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2651796" target="_blank">rs2651796</a>;ExAC.Info.AC=10115;ExAC.Info.AN=16956;ExAC.Info.AF=0.597;ExAC.Info.AC_Het=2225;ExAC.Info.AC_Hom=3033;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CD81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD81" target="_blank">CD81</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263645;SAVANT_GENE=CD81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD81" target="_blank">CD81</a>;SAVANT_INFO=+/20.1kb/8/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.66+1493C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD81+c.66+1493C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2400338">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:1952,189,0:107	1|1:0,41:41:99:1456,123,0:107	1|1:0,36:36:99:1128,108,0:107
11	2407084	.	G	GT	52680.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=564;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Immunodeficiency|_common_variable|_6|_613496_(3);dbSNP139.ID=rs71029143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71029143" target="_blank">rs71029143</a>;ExAC.Info.AC=13135;ExAC.Info.AN=18266;ExAC.Info.AF=0.719;ExAC.Info.AC_Het=1526;ExAC.Info.AC_Hom=2762;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CD81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD81" target="_blank">CD81</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000263645;SAVANT_GENE=CD81;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD81" target="_blank">CD81</a>;SAVANT_INFO=+/20.1kb/8/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.67-4557dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD81+c.67-4557dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2407084">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,164:164:99:6076,493,0:127	1|1:0,218:218:99:8116,658,0:127	1|1:0,182:182:99:6762,548,0:127
11	2424684	.	A	C	15233.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2234283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234283" target="_blank">rs2234283</a>;ExAC.Info.AC=124228;ExAC.Info.AN=125124;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=705;ExAC.Info.AC_Hom=55017;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cCc;snpeff.Amino_Acid_Change=p.His274Pro/c.821A>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=TSSC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSSC4" target="_blank">TSSC4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000451491;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333256;SAVANT_GENE=TSSC4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSSC4" target="_blank">TSSC4</a>;SAVANT_INFO=+/3.3kb/3/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.821A>C_p.His274Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSSC4+c.821A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2424684">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:2148,171,0:125	1|1:0,59:59:99:2184,177,0:125	1|1:0,42:42:99:1628,126,0:125
11	2427211	.	G	A	1422.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7938864;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7938864" target="_blank">rs7938864</a>;ExAC.Info.AC=14874;ExAC.Info.AN=126500;ExAC.Info.AF=0.118;ExAC.Info.AC_Het=12416;ExAC.Info.AC_Hom=1100;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3348+38C>T;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.319+1148G>A;snpeff.Gene_Name=AC124057.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3324+38C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.3324+38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2427211">View</a>	GT:AD:DP:GQ:PL:TP	0|0:68,0:68:99:0,204,2379:127	0|0:70,0:70:99:0,210,2460:127	0|1:31,23:54:99:730,0,913:127
11	2427291	.	A	C	38227.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs800342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=800342" target="_blank">rs800342</a>;ExAC.Info.AC=102445;ExAC.Info.AN=126594;ExAC.Info.AF=0.809;ExAC.Info.AC_Het=17573;ExAC.Info.AC_Hom=42040;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.319+1228A>C;snpeff.Gene_Name=AC124057.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1240575" target="_blank">AC1240575</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggG;snpeff.Amino_Acid_Change=p.Gly1102Gly/c.3306T>G;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1240575" target="_blank">AC1240575</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.3282T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.3282T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2427291">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,143:143:99:4818,429,0:127	1|1:0,153:153:99:5487,460,0:127	1|1:0,119:119:99:4324,358,0:127
11	2427302	.	A	T	3698.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72845798;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72845798" target="_blank">rs72845798</a>;ExAC.Info.AC=8;ExAC.Info.AN=126648;ExAC.Info.AF=6.317e-05;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.319+1239A>T;snpeff.Gene_Name=AC124057.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1240575" target="_blank">AC1240575</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Aac;snpeff.Amino_Acid_Change=p.Tyr1099Asn/c.3295T>A;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1240575" target="_blank">AC1240575</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.3271T>A_p.Tyr1091Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.3271T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2427302">View</a>	GT:AD:DP:GQ:PL:TP	0|0:139,0:139:99:0,417,4298:127	0|1:81,69:150:99:1868,0,2375:127	0|0:133,0:133:99:0,400,4304:127
11	2427364	.	T	C	19408.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs61873460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61873460" target="_blank">rs61873460</a>;ExAC.Info.AC=62812;ExAC.Info.AN=126332;ExAC.Info.AF=0.497;ExAC.Info.AC_Het=28078;ExAC.Info.AC_Hom=16618;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3252-19A>G;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.319+1301T>C;snpeff.Gene_Name=AC124057.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000433035;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.3252-43A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.3252-43A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2427364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2629,234,0:127	1|1:0,104:104:99:3403,312,0:127	1|0:48,44:92:99:1173,0,1381:127
11	2432666	.	C	T	6986.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34364959;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34364959" target="_blank">rs34364959</a>;ExAC.Info.AC=8981;ExAC.Info.AN=125386;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=8028;ExAC.Info.AC_Hom=410;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly900Ser/c.2698G>A;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2698G>A_p.Gly900Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.2698G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2432666">View</a>	GT:AD:DP:GQ:PL:TP	1|0:47,34:81:99:924,0,1336:127	0|0:111,0:111:99:0,333,3614:127	1|0:51,54:105:99:1454,0,1412:127
11	2432820	.	A	G	18280.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2651822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2651822" target="_blank">rs2651822</a>;ExAC.Info.AC=106131;ExAC.Info.AN=125202;ExAC.Info.AF=0.848;ExAC.Info.AC_Het=14829;ExAC.Info.AC_Hom=44485;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2607+45T>C;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2607+45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.2607+45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2432820">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:3391,273,0:127	1|0:63,52:115:99:1637,0,1844:127	1|0:33,47:80:99:1448,0,886:127
11	2432852	.	C	T	8366.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs149788787;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149788787" target="_blank">rs149788787</a>;ExAC.Info.AC=726;ExAC.Info.AN=126188;ExAC.Info.AF=5.753e-03;ExAC.Info.AC_Het=710;ExAC.Info.AC_Hom=2;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2607+13G>A;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2607+13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.2607+13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2432852">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,52:98:99:1488,0,1357:127	1|0:66,66:132:99:1786,0,1941:127	0|0:89,0:89:99:0,267,3144:127
11	2432964	.	T	C	4466.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2074234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2074234" target="_blank">rs2074234</a>;ExAC.Info.AC=44240;ExAC.Info.AN=125910;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=27834;ExAC.Info.AC_Hom=7968;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr836Thr/c.2508A>G;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2508A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.2508A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2432964">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,36:70:99:982,0,1017:127	0|0:72,0:72:99:0,216,2593:127	1|0:28,24:52:99:720,0,778:127
11	2434840	.	C	T	5463.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11605894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11605894" target="_blank">rs11605894</a>;ExAC.Info.AC=29803;ExAC.Info.AN=125468;ExAC.Info.AF=0.238;ExAC.Info.AC_Het=21256;ExAC.Info.AC_Hom=3385;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1891-22G>A;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1891-22G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.1891-22G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2434840">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,33:87:99:869,0,1372:127	0|0:103,0:103:99:0,309,3456:127	1|0:34,34:68:99:937,0,877:127
11	2435956	.	C	T	1493.05	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=57;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4929982;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4929982" target="_blank">rs4929982</a>;ExAC.Info.AC=25775;ExAC.Info.AN=70980;ExAC.Info.AF=0.363;ExAC.Info.AC_Het=3980;ExAC.Info.AC_Hom=1889;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg578Gln/c.1733G>A;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1733G>A_p.Arg578Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.1733G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2435956">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,8:23:99:220,0,383:27	1|0:15,10:25:99:229,0,815:27	0|0:9,0:9:27:0,27,425:27
11	2436733	.	G	A	4884.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11605072;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11605072" target="_blank">rs11605072</a>;ExAC.Info.AC=24683;ExAC.Info.AN=121342;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=9657;ExAC.Info.AC_Hom=1432;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1129-32C>T;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1129-32C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.1129-32C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2436733">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,27:57:99:728,0,870:127	0|0:97,0:97:99:0,291,3637:127	1|0:29,31:60:99:892,0,853:127
11	2438954	.	C	T	13.06	LowQual	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=28;MQ=70.00;MQ0=0;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1009+3G>A;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1010G>A;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1009+3G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.1009+3G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2438954">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,0:11:33:0,33,449:22	0|0:9,0:9:27:0,27,365:22	0|1:6,2:8:25:25,0,186:22
11	2438963	.	C	A	1094.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=38;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34350821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34350821" target="_blank">rs34350821</a>;ExAC.Info.AC=9743;ExAC.Info.AN=125134;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=7048;ExAC.Info.AC_Hom=440;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ttg;snpeff.Amino_Acid_Change=p.Val335Leu/c.1003G>T;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1003G>T_p.Val335Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.1003G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2438963">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,6:15:99:180,0,319:44	0|0:15,0:15:45:0,45,615:44	1|0:2,6:8:54:208,0,54:44
11	2439542	.	A	G	2848.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3986599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3986599" target="_blank">rs3986599</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=81405;ExAC.Info.AN=117554;ExAC.Info.AF=0.692;ExAC.Info.AC_Het=9700;ExAC.Info.AC_Hom=14055;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTa/gCa;snpeff.Amino_Acid_Change=p.Val254Ala/c.761T>C;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.761T>C_p.Val254Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.761T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2439542">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,15:29:99:466,0,391:127	0|0:52,0:52:99:0,156,1808:127	1|0:18,15:33:99:539,0,523:127
11	2441603	.	G	A	2196.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72847620;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72847620" target="_blank">rs72847620</a>;ExAC.Info.AC=56;ExAC.Info.AN=126300;ExAC.Info.AF=4.434e-04;ExAC.Info.AC_Het=55;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp166Asp/c.498C>T;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.498C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.498C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2441603">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,13:28:99:297,0,422:75	1|0:19,16:35:99:461,0,563:75	0|0:25,0:25:75:0,75,885:75
11	2441646	.	G	T	1979.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11607968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11607968" target="_blank">rs11607968</a>;ExAC.Info.AC=36407;ExAC.Info.AN=125478;ExAC.Info.AF=0.290;ExAC.Info.AC_Het=24802;ExAC.Info.AC_Hom=5385;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.466-11C>A;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.466-11C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.466-11C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2441646">View</a>	GT:AD:DP:GQ:PL:TP	1|0:11,11:22:99:308,0,356:75	0|0:25,0:25:75:0,75,901:75	1|0:13,9:22:99:254,0,342:75
11	2444094	.	C	G	5097.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2301699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2301699" target="_blank">rs2301699</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.117+56G>C;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533060;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155858;SAVANT_GENE=TRPM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM5" target="_blank">TRPM5</a>;SAVANT_INFO=-/18.5kb/24/3.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.117+56G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPM5+c.117+56G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2444094">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,28:47:99:794,0,550:127	0/1:21,24:45:99:721,0,691:127	0/1:20,18:38:99:537,0,577:127
11	2484803	.	T	C	721.37	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=22;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3);dbSNP139.ID=rs2074238;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2074238" target="_blank">rs2074238</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.386+18089T>C;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387T>C;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387T>C;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155840;SAVANT_GENE=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;SAVANT_INFO=+/404.0kb/16/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.386+18089T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ1+c.386+18089T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2484803">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,5:10:99:140,0,142:15	1|1:0,5:5:15:173,15,0:15	0|1:3,4:7:99:113,0,102:15
11	2542605	.	T	G	17716.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3);dbSNP139.ID=rs10400376;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10400376" target="_blank">rs10400376</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.387-6553T>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387T>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387T>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155840;SAVANT_GENE=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;SAVANT_INFO=+/404.0kb/16/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.387-6553T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ1+c.387-6553T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2542605">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,41:85:99:1583,0,2150:127	1|1:0,102:102:99:4641,313,0:127	0|1:45,46:91:99:1796,0,2014:127
11	2542606	.	A	G	17716.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3);dbSNP139.ID=rs10400365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10400365" target="_blank">rs10400365</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.387-6552A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155840;SAVANT_GENE=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;SAVANT_INFO=+/404.0kb/16/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.387-6552A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ1+c.387-6552A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2542606">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,41:87:99:1583,0,2150:127	1|1:0,104:104:99:4641,313,0:127	0|1:45,46:91:99:1796,0,2014:127
11	2593416	.	A	G	12068.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3);dbSNP139.ID=rs12786951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12786951" target="_blank">rs12786951</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.780+77A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.781A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155840;SAVANT_GENE=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;SAVANT_INFO=+/404.0kb/16/3.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.780+77A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ1+c.780+77A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2593416">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1911,153,0:127	1|1:0,60:60:99:2224,180,0:127	1|0:29,15:44:99:408,0,919:127
11	2683357	.	A	G	3506.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3);dbSNP139.ID=rs760419;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=760419" target="_blank">rs760419</a>;ExAC.Info.AC=56851;ExAC.Info.AN=126686;ExAC.Info.AF=0.449;ExAC.Info.AC_Het=28951;ExAC.Info.AC_Hom=13882;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.37868T>C;snpeff.Gene_Name=KCNQ1OT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1" target="_blank">KCNQ1OT1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000597346;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1514+46A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1" target="_blank">KCNQ1OT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1" target="_blank">KCNQ1OT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1" target="_blank">KCNQ1OT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1" target="_blank">KCNQ1OT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1" target="_blank">KCNQ1OT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1" target="_blank">KCNQ1OT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1" target="_blank">KCNQ1OT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1" target="_blank">KCNQ1OT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1" target="_blank">KCNQ1OT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1515A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1OT1" target="_blank">KCNQ1OT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155840;SAVANT_GENE=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;SAVANT_INFO=+/404.0kb/16/3.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1514+46A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ1+c.1514+46A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2683357">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,2000:127	0|1:27,32:59:99:984,0,863:127	0|1:24,25:49:99:789,0,817:127
11	2797320	.	A	G	10515.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3);dbSNP139.ID=rs163150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=163150" target="_blank">rs163150</a>;ExAC.Info.AC=51861;ExAC.Info.AN=86236;ExAC.Info.AF=0.601;ExAC.Info.AC_Het=5120;ExAC.Info.AC_Hom=5605;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1685+36A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686A>G;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155840;SAVANT_GENE=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;SAVANT_INFO=+/404.0kb/16/3.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1685+36A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ1+c.1685+36A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2797320">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:1100,84,0:116	1|1:0,42:42:99:1640,126,0:116	1|1:0,39:39:99:1444,117,0:116
11	2839751	.	C	T	1342.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=168;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3);dbSNP139.ID=rs2237892;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2237892" target="_blank">rs2237892</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1795-29246C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Subunits_assembly_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Subunits_assembly_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155840;SAVANT_GENE=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;SAVANT_INFO=+/404.0kb/16/3.1kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1795-29246C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ1+c.1795-29246C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2839751">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1685:127	0|0:61,0:61:99:0,183,2084:127	0|1:28,27:55:99:690,0,834:127
11	2857233	.	G	A	1048.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3);dbSNP139.ID=rs60808706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60808706" target="_blank">rs60808706</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1795-11764G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Subunits_assembly_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Subunits_assembly_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1795G>A;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155840;SAVANT_GENE=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;SAVANT_INFO=+/404.0kb/16/3.1kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1795-11764G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ1+c.1795-11764G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2857233">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,1295:80	0|0:27,0:27:81:0,81,949:80	0|1:24,19:43:99:543,0,752:80
11	2869188	.	C	T	5119.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3)|Long_QT_syndrome-1|_192500_(3)|_Jervell_and_Lange-Nielsen_syndrome|_220400_(3)|_Atrial_fibrillation|_familial|_3|_607554_(3)|_Short_QT_syndrome-2|_609621_(3)|_{Long_QT_syndrome_1|_acquired|_susceptibility_to}|_192500_(3)|Beckwith-Wiedemann_syndrome|_130650_(3);dbSNP139.ID=rs11601907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11601907" target="_blank">rs11601907</a>;ExAC.Info.AC=17553;ExAC.Info.AN=121814;ExAC.Info.AF=0.144;ExAC.Info.AC_Het=6936;ExAC.Info.AC_Hom=938;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.777-7516G>A;snpeff.Gene_Name=KCNQ1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1-AS1" target="_blank">KCNQ1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000440887;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1986C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1-AS1" target="_blank">KCNQ1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1986C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1-AS1" target="_blank">KCNQ1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1986C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1-AS1" target="_blank">KCNQ1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1986C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1-AS1" target="_blank">KCNQ1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1986C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1-AS1" target="_blank">KCNQ1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1986C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1-AS1" target="_blank">KCNQ1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1986C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1-AS1" target="_blank">KCNQ1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1986C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1-AS1" target="_blank">KCNQ1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1986C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1-AS1" target="_blank">KCNQ1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr662Tyr/c.1986C>T;snpeff.Amino_Acid_length=676;snpeff.Gene_Name=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1-AS1" target="_blank">KCNQ1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000155840;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000155840;SAVANT_GENE=KCNQ1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1" target="_blank">KCNQ1</a>;SAVANT_INFO=+/404.0kb/16/3.1kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1986C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNQ1+c.1986C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2869188">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,19:37:99:611,0,558:127	0/1:25,25:50:99:785,0,682:127	0/1:24,24:48:99:681,0,746:127
11	2905204	.	G	GC	9621.25	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Beckwith-Wiedemann_syndrome|_130650_(3)|_IMAGE_syndrome|_614732_(3);dbSNP139.ID=rs34289096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34289096" target="_blank">rs34289096</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.*5+25_*5+24insG;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=CDKN1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDKN1C" target="_blank">CDKN1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000430149;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000414822;SAVANT_GENE=CDKN1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDKN1C" target="_blank">CDKN1C</a>;SAVANT_INFO=-/2.7kb/3/2.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*29dupG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CDKN1C+c.*29dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2905204">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,32:64:99:738,0,785:127	1|1:1,103:104:99:2978,283,0:127	0|0:75,0:75:99:0,226,2284:127
11	2909393	.	G	T	2224.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs72850017;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72850017" target="_blank">rs72850017</a>;ExAC.Info.AC=1041;ExAC.Info.AN=21724;ExAC.Info.AF=0.048;ExAC.Info.AC_Het=555;ExAC.Info.AC_Hom=34;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=17;snpeff.Amino_Acid_Change=c.*17C>A;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=SLC22A18AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18AS" target="_blank">SLC22A18AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533594;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533594;SAVANT_GENE=SLC22A18AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18AS" target="_blank">SLC22A18AS</a>;SAVANT_INFO=-/16.0kb/4/1.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*17C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18AS+c.*17C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2909393">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2532:127	0|1:48,38:86:99:1131,0,1495:127	0|0:77,0:77:99:0,231,2775:127
11	2909513	.	C	G	3294.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=1;ExAC.Info.AN=28482;ExAC.Info.AF=3.511e-05;ExAC.Info.AC_Het=26;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cCc;snpeff.Amino_Acid_Change=p.Arg220Pro/c.659G>C;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=SLC22A18AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18AS" target="_blank">SLC22A18AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533594;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533594;SAVANT_GENE=SLC22A18AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18AS" target="_blank">SLC22A18AS</a>;SAVANT_INFO=-/16.0kb/4/1.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.659G>C_p.Arg220Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18AS+c.659G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2909513">View</a>	GT:AD:DP:GQ:PL:TP	0/1:41,18:59:99:218,0,1117:127	0/1:39,43:82:99:901,0,1081:127	0/1:44,25:69:99:288,0,1406:127
11	2920666	.	C	T	5729.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs365605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=365605" target="_blank">rs365605</a>;ExAC.Info.AC=16249;ExAC.Info.AN=26862;ExAC.Info.AF=0.605;ExAC.Info.AC_Het=5359;ExAC.Info.AC_Hom=4762;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGt/gAt;snpeff.Amino_Acid_Change=p.Gly89Asp/c.266G>A;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=SLC22A18AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18AS" target="_blank">SLC22A18AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533594;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533594;SAVANT_GENE=SLC22A18AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18AS" target="_blank">SLC22A18AS</a>;SAVANT_INFO=-/16.0kb/4/1.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.266G>A_p.Gly89Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18AS+c.266G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2920666">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,32:80:99:782,0,1427:127	0/1:48,31:79:99:790,0,1354:127	0/1:24,26:50:99:746,0,600:127
11	2924610	.	G	A	12255.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1048047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048047" target="_blank">rs1048047</a>;ExAC.Info.AC=76565;ExAC.Info.AN=126140;ExAC.Info.AF=0.607;ExAC.Info.AC_Het=28583;ExAC.Info.AC_Hom=23467;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-216+79C>T;snpeff.Amino_Acid_length=253;snpeff.Gene_Name=SLC22A18AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18AS" target="_blank">SLC22A18AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533594;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg12Gln/c.35G>A;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18AS" target="_blank">SLC22A18AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312221;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533594:ENST00000380574;SAVANT_GENE=SLC22A18AS:SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18AS:SLC22A18" target="_blank">SLC22A18AS:SLC22A18</a>;SAVANT_INFO=-/16.0kb/4/1.7kb:+/22.8kb/11/1.8kb;SAVANT_LOC=5UTR:Ex2;SAVANT_HGVS=c.-3679C>T:c.35G>A_p.Arg12Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18AS:SLC22A18+c.-3679C>T:c.35G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2924610">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,34:69:99:987,0,1108:127	1|1:0,96:96:99:3466,288,0:127	0|1:32,31:63:99:997,0,906:127
11	2929552	.	A	G	8805.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs429886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=429886" target="_blank">rs429886</a>;ExAC.Info.AC=94447;ExAC.Info.AN=126454;ExAC.Info.AF=0.747;ExAC.Info.AC_Het=23223;ExAC.Info.AC_Hom=35070;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val78Val/c.234A>G;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312221;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380574;SAVANT_GENE=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;SAVANT_INFO=+/22.8kb/11/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.234A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18+c.234A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2929552">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,25:45:99:750,0,523:127	1|1:0,62:62:99:2144,186,0:127	0|1:33,30:63:99:969,0,906:127
11	2930395	.	G	C	1785.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=51;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs10832891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10832891" target="_blank">rs10832891</a>;ExAC.Info.AC=14095;ExAC.Info.AN=95276;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=1685;ExAC.Info.AC_Hom=329;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.243-31G>C;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312221;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380574;SAVANT_GENE=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;SAVANT_INFO=+/22.8kb/11/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.243-31G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18+c.243-31G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2930395">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,12:24:99:291,0,310:127	0/1:9,5:14:99:170,0,213:127	0/1:8,5:13:99:141,0,212:127
11	2930773	.	G	T	266.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=48;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs61871178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61871178" target="_blank">rs61871178</a>;ExAC.Info.AC=4951;ExAC.Info.AN=40440;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=1976;ExAC.Info.AC_Hom=410;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.404-35G>T;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312221;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380574;SAVANT_GENE=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;SAVANT_INFO=+/22.8kb/11/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.404-35G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18+c.404-35G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2930773">View</a>	GT:AD:DP:GQ:PL:TP	0|0:19,0:19:57:0,57,690:52	0|1:6,5:11:99:152,0,190:52	0|0:18,0:18:54:0,54,699:52
11	2930987	.	G	C	530.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=63;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs61871179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61871179" target="_blank">rs61871179</a>;ExAC.Info.AC=7952;ExAC.Info.AN=79234;ExAC.Info.AF=0.100;ExAC.Info.AC_Het=545;ExAC.Info.AC_Hom=112;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.536+47G>C;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312221;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380574;SAVANT_GENE=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;SAVANT_INFO=+/22.8kb/11/1.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.536+47G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18+c.536+47G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2930987">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,731:50	0|1:17,9:26:99:284,0,584:50	0|0:17,0:17:51:0,51,631:50
11	2939126	.	C	A	8894.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs11024580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11024580" target="_blank">rs11024580</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.656-92C>A;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312221;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380574;SAVANT_GENE=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;SAVANT_INFO=+/22.8kb/11/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.656-92C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18+c.656-92C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2939126">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:1881,174,0:127	1|0:29,19:48:99:480,0,870:127	1|0:29,26:55:99:650,0,913:127
11	2939161	.	G	A	3452.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs67709661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67709661" target="_blank">rs67709661</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.656-57G>A;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312221;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380574;SAVANT_GENE=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;SAVANT_INFO=+/22.8kb/11/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.656-57G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18+c.656-57G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2939161">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,20:45:99:470,0,749:127	1|0:32,19:51:99:522,0,1022:127	0|0:59,0:59:99:0,177,2019:127
11	2939392	.	G	A	18075.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs445679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=445679" target="_blank">rs445679</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.763+67G>A;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312221;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380574;SAVANT_GENE=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;SAVANT_INFO=+/22.8kb/11/1.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.763+67G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18+c.763+67G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2939392">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1861,159,0:127	1|1:0,86:86:99:3033,258,0:127	1|1:0,67:67:99:2332,201,0:127
11	2940492	.	T	C	10967.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=114;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbSNP139.ID=rs450244;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=450244" target="_blank">rs450244</a>;ExAC.Info.AC=114450;ExAC.Info.AN=126440;ExAC.Info.AF=0.905;ExAC.Info.AC_Het=10480;ExAC.Info.AC_Hom=50782;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.764-45T>C;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312221;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380574;SAVANT_GENE=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;SAVANT_INFO=+/22.8kb/11/1.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.764-45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18+c.764-45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2940492">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1246,99,0:98	1|1:0,48:48:99:1716,144,0:98	1|1:0,33:33:99:1241,99,0:98
11	2943671	.	G	C	2832.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3)|Breast_cancer|_somatic|_114480_(3)|_Rhabdomyosarcoma|_somatic|_268210_(3)|_Lung_cancer|_somatic|_211980_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1129782;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1129782" target="_blank">rs1129782</a>;ExAC.Info.AC=24102;ExAC.Info.AN=126222;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=17978;ExAC.Info.AC_Hom=2219;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tgG/tgC;snpeff.Amino_Acid_Change=p.Trp324Cys/c.972G>C;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312221;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380574;SAVANT_GENE=SLC22A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A18" target="_blank">SLC22A18</a>;SAVANT_INFO=+/22.8kb/11/1.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.972G>C_p.Trp324Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC22A18+c.972G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2943671">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,2013:127	0|1:53,45:98:99:1435,0,1674:127	0|0:51,0:51:99:0,153,1966:127
11	2950558	.	A	G	11884.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=172;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs13390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13390" target="_blank">rs13390</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=15946;ExAC.Info.AN=124904;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=12744;ExAC.Info.AC_Hom=1234;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37A>G;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=PHLDA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHLDA2" target="_blank">PHLDA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314222;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu13Leu/c.37T>C;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=PHLDA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHLDA2" target="_blank">PHLDA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314222;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314222;SAVANT_GENE=PHLDA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHLDA2" target="_blank">PHLDA2</a>;SAVANT_INFO=-/1.2kb/2/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.37T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHLDA2+c.37T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2950558">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1981,159,0:127	1|0:28,39:67:99:1273,0,731:127	1|0:26,26:52:99:847,0,666:127
11	2979798	.	G	T	4910.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs7940694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7940694" target="_blank">rs7940694</a>;ExAC.Info.AC=103380;ExAC.Info.AN=125194;ExAC.Info.AF=0.826;ExAC.Info.AC_Het=17247;ExAC.Info.AC_Hom=42709;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.747-24C>A;snpeff.Amino_Acid_length=386;snpeff.Gene_Name=NAP1L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAP1L4" target="_blank">NAP1L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526115;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380542;SAVANT_GENE=NAP1L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAP1L4" target="_blank">NAP1L4</a>;SAVANT_INFO=-/47.9kb/16/2.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.747-24C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAP1L4+c.747-24C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2979798">View</a>	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,369,4134:127	0|1:63,50:113:99:1332,0,1599:127	0|1:51,41:92:99:1143,0,1440:127
11	2990985	.	G	A	1512.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61871241;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61871241" target="_blank">rs61871241</a>;ExAC.Info.AC=16190;ExAC.Info.AN=125254;ExAC.Info.AF=0.129;ExAC.Info.AC_Het=13643;ExAC.Info.AC_Hom=1174;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.534+48C>T;snpeff.Amino_Acid_length=386;snpeff.Gene_Name=NAP1L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAP1L4" target="_blank">NAP1L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526115;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380542;SAVANT_GENE=NAP1L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAP1L4" target="_blank">NAP1L4</a>;SAVANT_INFO=-/47.9kb/16/2.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.534+48C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAP1L4+c.534+48C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2990985">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1599:127	0|0:75,0:75:99:0,226,2954:127	0|1:23,27:50:99:775,0,778:127
11	2999488	.	A	C	9480.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72850055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72850055" target="_blank">rs72850055</a>;ExAC.Info.AC=3;ExAC.Info.AN=125220;ExAC.Info.AF=2.396e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+26T>G;snpeff.Amino_Acid_length=386;snpeff.Gene_Name=NAP1L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAP1L4" target="_blank">NAP1L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526115;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380542;SAVANT_GENE=NAP1L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAP1L4" target="_blank">NAP1L4</a>;SAVANT_INFO=-/47.9kb/16/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.73+26T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAP1L4+c.73+26T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2999488">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,69:132:99:1960,0,1776:127	1|0:73,82:155:99:2308,0,2667:127	0|0:146,0:146:99:0,438,4918:127
11	2999507	.	G	T	3326.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3814964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3814964" target="_blank">rs3814964</a>;ExAC.Info.AC=43596;ExAC.Info.AN=125178;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=25932;ExAC.Info.AC_Hom=8725;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.73+7C>A;snpeff.Amino_Acid_length=386;snpeff.Gene_Name=NAP1L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAP1L4" target="_blank">NAP1L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526115;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.74C>A;snpeff.Amino_Acid_length=386;snpeff.Gene_Name=NAP1L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAP1L4" target="_blank">NAP1L4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526115;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380542;SAVANT_GENE=NAP1L4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAP1L4" target="_blank">NAP1L4</a>;SAVANT_INFO=-/47.9kb/16/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.73+7C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAP1L4+c.73+7C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:2999507">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,361,4806:127	0|1:76,65:141:99:1682,0,2933:127	0|0:134,0:134:99:0,402,4855:127
11	3026692	.	T	G	3926.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4758458;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758458" target="_blank">rs4758458</a>;ExAC.Info.AC=105128;ExAC.Info.AN=126700;ExAC.Info.AF=0.830;ExAC.Info.AC_Het=17381;ExAC.Info.AC_Hom=43839;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2150-29A>C;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380525;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380525;SAVANT_GENE=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;SAVANT_INFO=-/56.5kb/23/2.8kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2150-29A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CARS+c.2150-29A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3026692">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1878:127	0|1:35,34:69:99:1044,0,1040:127	0|1:32,26:58:99:939,0,916:127
11	3026712	.	C	T	1092.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7931504;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7931504" target="_blank">rs7931504</a>;ExAC.Info.AC=48111;ExAC.Info.AN=126692;ExAC.Info.AF=0.380;ExAC.Info.AC_Het=29247;ExAC.Info.AC_Hom=9372;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2150-49G>A;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380525;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380525;SAVANT_GENE=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;SAVANT_INFO=-/56.5kb/23/2.8kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2150-49G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CARS+c.2150-49G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3026712">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,138,2432:127	0|0:47,0:47:99:0,150,2334:127	0|1:21,20:41:99:565,0,1115:127
11	3028140	.	G	A	3354.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs729662;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=729662" target="_blank">rs729662</a>;ExAC.Info.AC=42336;ExAC.Info.AN=126700;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=25491;ExAC.Info.AC_Hom=8399;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro706Pro/c.2118C>T;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380525;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380525;SAVANT_GENE=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;SAVANT_INFO=-/56.5kb/23/2.8kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2118C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CARS+c.2118C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3028140">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,404,4581:127	0|1:79,61:140:99:1696,0,2282:127	0|0:115,0:115:99:0,346,4024:127
11	3061780	.	C	T	12761.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs399565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=399565" target="_blank">rs399565</a>;ExAC.Info.AC=5728;ExAC.Info.AN=18094;ExAC.Info.AF=0.317;ExAC.Info.AC_Het=2693;ExAC.Info.AC_Hom=1009;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.455+346G>A;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380525;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2184-230C>T;snpeff.Gene_Name=CARS-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000499962;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380525;SAVANT_GENE=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;SAVANT_INFO=-/56.5kb/23/2.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.455+346G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CARS+c.455+346G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3061780">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2009,180,0:127	1|1:0,76:76:99:2651,228,0:127	1|0:18,26:44:99:754,0,534:127
11	3076257	.	C	T	14383.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7945933;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7945933" target="_blank">rs7945933</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.25+2316G>A;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380525;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380525;SAVANT_GENE=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;SAVANT_INFO=-/56.5kb/23/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.25+2316G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CARS+c.25+2316G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3076257">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2057,195,0:127	1|1:0,63:63:99:2452,190,0:127	1|1:0,54:54:99:1840,162,0:127
11	3076285	.	G	A	9614.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs406598;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=406598" target="_blank">rs406598</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.25+2288C>T;snpeff.Amino_Acid_length=831;snpeff.Gene_Name=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380525;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380525;SAVANT_GENE=CARS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARS" target="_blank">CARS</a>;SAVANT_INFO=-/56.5kb/23/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.25+2288C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CARS+c.25+2288C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3076285">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1734,162,0:127	1|1:0,53:53:99:1883,159,0:127	1|0:18,24:42:99:669,0,478:127
11	3109403	.	A	G	13751.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2289999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2289999" target="_blank">rs2289999</a>;ExAC.Info.AC=88905;ExAC.Info.AN=125832;ExAC.Info.AF=0.707;ExAC.Info.AC_Het=23323;ExAC.Info.AC_Hom=26817;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=32;snpeff.Amino_Acid_Change=c.*32T>C;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263650;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263650;SAVANT_GENE=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;SAVANT_INFO=-/78.2kb/22/3.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*32T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSBPL5+c.*32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3109403">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,41:41:99:1884,129,0:127	1|1:0,49:49:99:2395,166,0:127	1|0:12,17:29:99:675,0,648:127
11	3109408	.	C	T	14067.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2289998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2289998" target="_blank">rs2289998</a>;ExAC.Info.AC=88878;ExAC.Info.AN=125756;ExAC.Info.AF=0.707;ExAC.Info.AC_Het=23531;ExAC.Info.AC_Hom=27475;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=27;snpeff.Amino_Acid_Change=c.*27G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263650;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263650;SAVANT_GENE=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;SAVANT_INFO=-/78.2kb/22/3.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*27G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSBPL5+c.*27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3109408">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1968,135,0:127	1|1:0,56:56:99:2420,169,0:127	1|0:15,17:32:99:669,0,732:127
11	3109426	.	T	C	11983.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10160757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10160757" target="_blank">rs10160757</a>;ExAC.Info.AC=104639;ExAC.Info.AN=126122;ExAC.Info.AF=0.830;ExAC.Info.AC_Het=16097;ExAC.Info.AC_Hom=40888;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=9;snpeff.Amino_Acid_Change=c.*9A>G;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263650;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263650;SAVANT_GENE=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;SAVANT_INFO=-/78.2kb/22/3.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*9A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSBPL5+c.*9A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3109426">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1976,168,0:127	1|1:0,60:60:99:2000,180,0:127	1|0:17,20:37:99:500,0,479:127
11	3115100	.	C	T	3267.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=144;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs113189224;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113189224" target="_blank">rs113189224</a>;ExAC.Info.AC=10452;ExAC.Info.AN=125636;ExAC.Info.AF=0.083;ExAC.Info.AC_Het=7767;ExAC.Info.AC_Hom=458;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1720-35G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263650;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263650;SAVANT_GENE=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;SAVANT_INFO=-/78.2kb/22/3.9kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1720-35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSBPL5+c.1720-35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3115100">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,26:48:99:788,0,615:127	0|0:54,0:54:99:0,162,1829:127	1|0:21,21:42:99:619,0,568:127
11	3122817	.	A	G	3266.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7106225;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7106225" target="_blank">rs7106225</a>;ExAC.Info.AC=15361;ExAC.Info.AN=126682;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=12811;ExAC.Info.AC_Hom=1192;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1522+16T>C;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263650;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263650;SAVANT_GENE=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;SAVANT_INFO=-/78.2kb/22/3.9kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1522+16T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSBPL5+c.1522+16T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3122817">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,21:44:99:522,0,587:127	0|0:56,0:56:99:0,168,1917:127	1|0:15,28:43:99:890,0,468:127
11	3123001	.	C	T	3461.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7121251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7121251" target="_blank">rs7121251</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1426-72G>A;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263650;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263650;SAVANT_GENE=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;SAVANT_INFO=-/78.2kb/22/3.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1426-72G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSBPL5+c.1426-72G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3123001">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,23:49:99:511,0,710:127	0|0:88,0:88:99:0,264,2816:127	1|0:21,24:45:99:657,0,656:127
11	3123540	.	G	A	7442.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=329;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56062540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56062540" target="_blank">rs56062540</a>;ExAC.Info.AC=11788;ExAC.Info.AN=123550;ExAC.Info.AF=0.095;ExAC.Info.AC_Het=5318;ExAC.Info.AC_Hom=445;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1327-29C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263650;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263650;SAVANT_GENE=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;SAVANT_INFO=-/78.2kb/22/3.9kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1327-29C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSBPL5+c.1327-29C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3123540">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,41:98:99:1054,0,1712:127	0|0:120,0:120:99:0,361,4595:127	1|0:46,65:111:99:1737,0,1173:127
11	3129027	.	G	A	4072.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3741350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3741350" target="_blank">rs3741350</a>;ExAC.Info.AC=52641;ExAC.Info.AN=126542;ExAC.Info.AF=0.416;ExAC.Info.AC_Het=27486;ExAC.Info.AC_Hom=12326;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr280Thr/c.840C>T;snpeff.Amino_Acid_length=879;snpeff.Gene_Name=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263650;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263650;SAVANT_GENE=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;SAVANT_INFO=-/78.2kb/22/3.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.840C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSBPL5+c.840C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3129027">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,23:48:99:555,0,675:127	0|0:60,0:60:99:0,180,1934:127	1|0:20,31:51:99:937,0,585:127
11	3187772	.	A	G	14839.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs72848215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72848215" target="_blank">rs72848215</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OSBPL5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBPL5" target="_blank">OSBPL5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSBPL5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3187772">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2978,246,0:127	1|0:48,36:84:99:1084,0,1414:127	1|0:47,43:90:99:1248,0,1297:127
11	3242933	.	C	T	20053.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10833491;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10833491" target="_blank">rs10833491</a>;ExAC.Info.AC=9170;ExAC.Info.AN=16980;ExAC.Info.AF=0.540;ExAC.Info.AC_Het=1757;ExAC.Info.AC_Hom=1519;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.395C>T;snpeff.Gene_Name=MRGPRG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRG-AS1" target="_blank">MRGPRG-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420873;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000420873;SAVANT_GENE=C11orf36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf36" target="_blank">C11orf36</a>;SAVANT_INFO=+/4.7kb/3/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-10C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf36+c.-10C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3242933">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:2857,267,0:127	1|1:0,88:88:99:3047,264,0:127	1|1:0,70:70:99:2404,210,0:127
11	3243346	.	C	T	6872.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11026004;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11026004" target="_blank">rs11026004</a>;ExAC.Info.AC=9633;ExAC.Info.AN=16994;ExAC.Info.AF=0.567;ExAC.Info.AC_Het=2702;ExAC.Info.AC_Hom=2904;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.808C>T;snpeff.Gene_Name=MRGPRG-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRG-AS1" target="_blank">MRGPRG-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000420873;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000420873;SAVANT_GENE=C11orf36;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf36" target="_blank">C11orf36</a>;SAVANT_INFO=+/4.7kb/3/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.404C>T_p.Ser135Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf36+c.404C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3243346">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:808,69,0:80	1|1:0,35:35:99:1222,105,0:80	1|1:0,27:27:81:965,81,0:80
11	3249829	.	G	A	8861.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11026040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11026040" target="_blank">rs11026040</a>;ExAC.Info.AC=23419;ExAC.Info.AN=125644;ExAC.Info.AF=0.186;ExAC.Info.AC_Het=18037;ExAC.Info.AC_Hom=2652;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.209+2197G>A;snpeff.Gene_Name=AC109309.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1093094" target="_blank">AC1093094</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000418995;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys67Cys/c.201C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=MRGPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1093094" target="_blank">AC1093094</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389832;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389832;SAVANT_GENE=MRGPRE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRE" target="_blank">MRGPRE</a>;SAVANT_INFO=-/4.7kb/2/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.198C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRGPRE+c.198C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3249829">View</a>	GT:AD:DP:GQ:PL:TP	1|0:90,50:140:99:1167,0,2761:127	0|0:172,0:172:99:0,517,6204:127	1|0:71,62:133:99:1806,0,2113:127
11	3361087	.	T	C	7201.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2073805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2073805" target="_blank">rs2073805</a>;ExAC.Info.AC=8883;ExAC.Info.AN=16874;ExAC.Info.AF=0.526;ExAC.Info.AC_Het=2676;ExAC.Info.AC_Hom=2253;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96-86T>C;snpeff.Gene_Name=RP5-1173A5.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526922;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF195+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3361087">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,30:63:99:894,0,845:127	0|0:64,0:64:99:0,192,2278:127	1|1:0,60:60:99:2075,180,0:127
11	3381369	.	G	C	8274.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs62619253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62619253" target="_blank">rs62619253</a>;ExAC.Info.AC=20817;ExAC.Info.AN=125638;ExAC.Info.AF=0.166;ExAC.Info.AC_Het=16181;ExAC.Info.AC_Hom=2297;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.869G>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cGt;snpeff.Amino_Acid_Change=p.Pro290Arg/c.869C>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399602;SAVANT_GENE=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;SAVANT_INFO=-/20.4kb/6/2.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.869C>G_p.Pro290Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF195+c.869C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3381369">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,69:123:99:1872,0,1625:127	1|0:90,73:163:99:2023,0,2636:127	0|0:132,0:132:99:0,397,4790:127
11	3382069	.	C	G	21539.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6578335;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6578335" target="_blank">rs6578335</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.374-51G>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374C>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374C>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374C>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374C>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399602;SAVANT_GENE=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;SAVANT_INFO=-/20.4kb/6/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.374-51G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF195+c.374-51G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3382069">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2681,233,0:127	1|1:0,116:116:99:4304,349,0:127	1|1:0,58:58:99:2180,174,0:127
11	3388118	.	A	G	441.91	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=12;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11026762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11026762" target="_blank">rs11026762</a>;ExAC.Info.AC=2632;ExAC.Info.AN=15294;ExAC.Info.AF=0.172;ExAC.Info.AC_Het=1717;ExAC.Info.AC_Hom=360;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.226+4087T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227A>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227A>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227A>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227A>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399602;SAVANT_GENE=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;SAVANT_INFO=-/20.4kb/6/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.226+4087T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF195+c.226+4087T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3388118">View</a>	GT:AD:DP:GQ:PL:TP	0|1:0,1:1:2:40,3,0:3	1|0:4,5:9:99:144,0,129:3	0|0:2,0:2:6:0,6,75:3
11	3390006	.	T	C	10625.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7943767;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7943767" target="_blank">rs7943767</a>;ExAC.Info.AC=9753;ExAC.Info.AN=14160;ExAC.Info.AF=0.689;ExAC.Info.AC_Het=2190;ExAC.Info.AC_Hom=3082;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.226+2199A>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Spacer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.227T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399602;SAVANT_GENE=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;SAVANT_INFO=-/20.4kb/6/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.226+2199A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF195+c.226+2199A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3390006">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,37:70:99:1083,0,924:127	0|1:55,53:108:99:1425,0,1563:127	1|1:0,73:73:99:2561,219,0:127
11	3392351	.	T	C	17731.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2269735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2269735" target="_blank">rs2269735</a>;ExAC.Info.AC=93780;ExAC.Info.AN=125992;ExAC.Info.AF=0.744;ExAC.Info.AC_Het=22756;ExAC.Info.AC_Hom=34602;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.131-51A>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.131T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.131T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399602;SAVANT_GENE=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;SAVANT_INFO=-/20.4kb/6/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.131-51A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF195+c.131-51A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3392351">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,48:116:99:1812,0,3813:127	0|1:81,55:136:99:1990,0,4576:127	1|1:0,87:87:99:3786,262,0:127
11	3392357	.	T	G	17197.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2269734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2269734" target="_blank">rs2269734</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.131-57A>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.131T>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.131T>G;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399602;SAVANT_GENE=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;SAVANT_INFO=-/20.4kb/6/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.131-57A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF195+c.131-57A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3392357">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,41:109:99:1646,0,3855:127	0|1:75,48:123:99:1897,0,4539:127	1|1:0,81:81:99:3806,262,0:127
11	3392972	.	G	A	25283.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=647;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2269732;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2269732" target="_blank">rs2269732</a>;ExAC.Info.AC=93277;ExAC.Info.AN=126146;ExAC.Info.AF=0.739;ExAC.Info.AC_Het=21975;ExAC.Info.AC_Hom=33378;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4-39C>T;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399602;SAVANT_GENE=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;SAVANT_INFO=-/20.4kb/6/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.4-39C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF195+c.4-39C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3392972">View</a>	GT:AD:DP:GQ:PL:TP	1|0:119,94:213:99:2443,0,3314:127	0|1:144,126:270:99:3267,0,4198:127	1|1:0,164:164:99:5495,493,0:127
11	3398795	.	G	A	12246.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7932797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7932797" target="_blank">rs7932797</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3+1473C>T;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399602;SAVANT_GENE=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;SAVANT_INFO=-/20.4kb/6/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.3+1473C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF195+c.3+1473C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3398795">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1371,117,0:93	1|1:0,67:67:99:2339,201,0:93	1|1:0,31:31:93:1234,93,0:93
11	3400237	.	G	T	2172.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2301567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2301567" target="_blank">rs2301567</a>;ExAC.Info.AC=7901;ExAC.Info.AN=116996;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=2307;ExAC.Info.AC_Hom=279;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3+31C>A;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399602;SAVANT_GENE=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;SAVANT_INFO=-/20.4kb/6/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.3+31C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF195+c.3+31C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3400237">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,19:42:99:497,0,581:69	1|0:16,14:30:99:391,0,478:69	0|0:23,0:23:69:0,69,848:69
11	3400334	.	A	G	8848.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=106;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7931660;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7931660" target="_blank">rs7931660</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=64;snpeff.Amino_Acid_Change=c.-64T>C;snpeff.Amino_Acid_length=629;snpeff.Gene_Name=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399602;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399602;SAVANT_GENE=ZNF195;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF195" target="_blank">ZNF195</a>;SAVANT_INFO=-/20.4kb/6/2.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-64T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF195+c.-64T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3400334">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1540,129,0:83	1|1:0,35:35:99:1291,105,0:83	1|1:0,28:28:84:974,84,0:83
11	3424888	.	G	A	9298.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=452;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.845+702G>A;snpeff.Gene_Name=TSSC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSSC2" target="_blank">TSSC2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000529482;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSSC2" target="_blank">TSSC2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSSC2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3424888">View</a>	GT:AD:DP:GQ:PL:TP	0|1:75,79:154:99:1926,0,2046:127	1|0:75,88:163:99:2420,0,2118:127	0|0:135,0:135:99:0,405,4761:127
11	3645313	.	C	A	29226.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10834647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10834647" target="_blank">rs10834647</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1868+1267C>A;snpeff.Gene_Name=TRPC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPC2" target="_blank">TRPC2</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451043;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPC2" target="_blank">TRPC2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPC2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3645313">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,155:155:99:5052,466,0:127	1|1:0,217:217:99:7403,652,0:127	1|0:98,83:181:99:2171,0,2700:127
11	3645345	.	G	A	27694.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10834648;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10834648" target="_blank">rs10834648</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1868+1299G>A;snpeff.Gene_Name=TRPC2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPC2" target="_blank">TRPC2</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000451043;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPC2" target="_blank">TRPC2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRPC2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3645345">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,139:139:99:4615,418,0:127	1|1:0,223:223:99:7286,669,0:127	1|0:90,74:164:99:1910,0,2513:127
11	3659993	.	G	T	10005.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=290;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2271586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271586" target="_blank">rs2271586</a>;ExAC.Info.AC=28218;ExAC.Info.AN=126704;ExAC.Info.AF=0.223;ExAC.Info.AC_Het=20747;ExAC.Info.AC_Hom=3737;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aAg;snpeff.Amino_Acid_Change=p.Thr284Lys/c.851C>A;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=ART5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART5" target="_blank">ART5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397068;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397068;SAVANT_GENE=ART5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART5" target="_blank">ART5</a>;SAVANT_INFO=-/3.8kb/4/1.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.851C>A_p.Thr284Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ART5+c.851C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3659993">View</a>	GT:AD:DP:GQ:PL:TP	0/1:50,37:87:99:1023,0,1432:127	0/1:51,55:106:99:1539,0,1475:127	0/1:50,47:97:99:1280,0,1286:127
11	3661140	.	T	C	21332.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4910876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4910876" target="_blank">rs4910876</a>;ExAC.Info.AC=126385;ExAC.Info.AN=126686;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=289;ExAC.Info.AC_Hom=62980;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly173Gly/c.519A>G;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=ART5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART5" target="_blank">ART5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397068;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397068;SAVANT_GENE=ART5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART5" target="_blank">ART5</a>;SAVANT_INFO=-/3.8kb/4/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.519A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ART5+c.519A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3661140">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2434,213,0:127	1|1:0,70:70:99:2504,210,0:127	1|1:0,101:101:99:3470,303,0:127
11	3661585	.	A	ATGG	47601.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3062849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3062849" target="_blank">rs3062849</a>;ExAC.Info.AC=122816;ExAC.Info.AN=124046;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=1012;ExAC.Info.AC_Hom=58248;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=atc/aCCAtc;snpeff.Amino_Acid_Change=p.Ile25_Leu26insThrIle/c.73_74insCCA;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=ART5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART5" target="_blank">ART5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397068;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000397068;SAVANT_GENE=ART5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART5" target="_blank">ART5</a>;SAVANT_INFO=-/3.8kb/4/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.71_73dupCCA_p.Pro24_Ile25insThr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ART5+c.71_73dupCCA+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3661585">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:5922,405,0:127	1|1:1,156:157:99:7002,462,0:127	1|1:0,125:125:99:5586,384,0:127
11	3663011	.	G	A	8751.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs932097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=932097" target="_blank">rs932097</a>;ExAC.Info.AC=51252;ExAC.Info.AN=115460;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=10721;ExAC.Info.AC_Hom=6527;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.57+25C>T;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=ART5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART5" target="_blank">ART5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000397068;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000397068;SAVANT_GENE=ART5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART5" target="_blank">ART5</a>;SAVANT_INFO=-/3.8kb/4/1.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.57+25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ART5+c.57+25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3663011">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1829,168,0:127	1|0:22,26:48:99:762,0,664:127	1|0:31,28:59:99:749,0,817:127
11	3681051	.	C	G	2760.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61998205;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61998205" target="_blank">rs61998205</a>;ExAC.Info.AC=9775;ExAC.Info.AN=126594;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=8585;ExAC.Info.AC_Hom=489;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.302C>G;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=ART1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART1" target="_blank">ART1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000250693;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aGc;snpeff.Amino_Acid_Change=p.Thr101Ser/c.302C>G;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=ART1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART1" target="_blank">ART1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000250693;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000250693;SAVANT_GENE=ART1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART1" target="_blank">ART1</a>;SAVANT_INFO=+/19.3kb/5/1.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.302C>G_p.Thr101Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ART1+c.302C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3681051">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,229,2903:127	0|0:139,0:139:99:0,418,5243:127	0|1:44,46:90:99:1399,0,1434:127
11	3681115	.	A	G	3192.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=531;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs35136756;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35136756" target="_blank">rs35136756</a>;ExAC.Info.AC=17054;ExAC.Info.AN=126664;ExAC.Info.AF=0.135;ExAC.Info.AC_Het=14150;ExAC.Info.AC_Hom=1327;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366A>G;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=ART1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART1" target="_blank">ART1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000250693;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr122Thr/c.366A>G;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=ART1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART1" target="_blank">ART1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000250693;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000250693;SAVANT_GENE=ART1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART1" target="_blank">ART1</a>;SAVANT_INFO=+/19.3kb/5/1.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.366A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ART1+c.366A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3681115">View</a>	GT:AD:DP:GQ:PL:TP	0|0:161,0:161:99:0,484,5671:127	0|0:231,0:231:99:0,694,8201:127	0|1:82,57:139:99:1615,0,2651:127
11	3681519	.	T	C	8245.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2280134;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2280134" target="_blank">rs2280134</a>;ExAC.Info.AC=81236;ExAC.Info.AN=126656;ExAC.Info.AF=0.641;ExAC.Info.AC_Het=26705;ExAC.Info.AC_Hom=26942;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.770T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=ART1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART1" target="_blank">ART1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000250693;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu257Pro/c.770T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=ART1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART1" target="_blank">ART1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000250693;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000250693;SAVANT_GENE=ART1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ART1" target="_blank">ART1</a>;SAVANT_INFO=+/19.3kb/5/1.3kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.770T>C_p.Leu257Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ART1+c.770T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3681519">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,35:78:99:1027,0,1246:127	0/1:40,43:83:99:1198,0,1242:127	0/1:44,36:80:99:926,0,1339:127
11	3687626	.	T	G	3574.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2231547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2231547" target="_blank">rs2231547</a>;ExAC.Info.AC=6172;ExAC.Info.AN=126696;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5742;ExAC.Info.AC_Hom=207;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1064T>G;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=CHRNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA10" target="_blank">CHRNA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000250699;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gCg;snpeff.Amino_Acid_Change=p.Glu355Ala/c.1064A>C;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=CHRNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA10" target="_blank">CHRNA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000250699;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000250699;SAVANT_GENE=CHRNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA10" target="_blank">CHRNA10</a>;SAVANT_INFO=-/5.8kb/5/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1064A>C_p.Glu355Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHRNA10+c.1064A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3687626">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,270,3246:127	0|0:126,0:126:99:0,378,4499:127	0|1:47,61:108:99:1806,0,1288:127
11	3687651	.	C	T	3838.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2231546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2231546" target="_blank">rs2231546</a>;ExAC.Info.AC=6171;ExAC.Info.AN=126698;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=5748;ExAC.Info.AC_Hom=207;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1039C>T;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=CHRNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA10" target="_blank">CHRNA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000250699;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly347Ser/c.1039G>A;snpeff.Amino_Acid_length=450;snpeff.Gene_Name=CHRNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA10" target="_blank">CHRNA10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000250699;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000250699;SAVANT_GENE=CHRNA10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRNA10" target="_blank">CHRNA10</a>;SAVANT_INFO=-/5.8kb/5/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1039G>A_p.Gly347Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHRNA10+c.1039G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3687651">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,330,3984:127	0|0:151,0:151:99:0,453,5452:127	0|1:51,61:112:99:1938,0,1307:127
11	3704704	.	T	C	3746.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3)|Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3);dbSNP139.ID=rs7950171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7950171" target="_blank">rs7950171</a>;ExAC.Info.AC=25887;ExAC.Info.AN=126668;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=19862;ExAC.Info.AC_Hom=2948;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4677-33A>G;snpeff.Amino_Acid_length=1800;snpeff.Gene_Name=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324932;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324932;SAVANT_GENE=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;SAVANT_INFO=-/122.8kb/33/7.0kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.4677-33A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUP98+c.4677-33A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3704704">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,10:23:99:298,0,273:104	0|0:41,0:41:99:0,123,1385:104	1|1:0,35:35:99:1236,105,0:104
11	3714489	.	C	T	2954.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3)|Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1875;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1875" target="_blank">rs1875</a>;ExAC.Info.AC=26920;ExAC.Info.AN=126704;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=20202;ExAC.Info.AC_Hom=3357;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala1428Ala/c.4284G>A;snpeff.Amino_Acid_length=1800;snpeff.Gene_Name=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324932;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324932;SAVANT_GENE=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;SAVANT_INFO=-/122.8kb/33/7.0kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.4284G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUP98+c.4284G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3714489">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,400,4707:127	0|1:63,55:118:99:1496,0,1945:127	0|0:176,0:176:99:0,529,6081:127
11	3723781	.	G	C	3154.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3)|Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35404087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35404087" target="_blank">rs35404087</a>;ExAC.Info.AC=10707;ExAC.Info.AN=126704;ExAC.Info.AF=0.085;ExAC.Info.AC_Het=9505;ExAC.Info.AC_Hom=600;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln1142Glu/c.3424C>G;snpeff.Amino_Acid_length=1800;snpeff.Gene_Name=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324932;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324932;SAVANT_GENE=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;SAVANT_INFO=-/122.8kb/33/7.0kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.3424C>G_p.Gln1142Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUP98+c.3424C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3723781">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,351,4156:127	0|0:167,1:168:99:0,462,6024:127	0|1:82,55:137:99:1596,0,2516:127
11	3746465	.	C	G	4084.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3)|Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3);dbSNP139.ID=rs276901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=276901" target="_blank">rs276901</a>;ExAC.Info.AC=34762;ExAC.Info.AN=126650;ExAC.Info.AF=0.274;ExAC.Info.AC_Het=23914;ExAC.Info.AC_Hom=5293;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1731-16G>C;snpeff.Amino_Acid_length=1800;snpeff.Gene_Name=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324932;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324932;SAVANT_GENE=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;SAVANT_INFO=-/122.8kb/33/7.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1731-16G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUP98+c.1731-16G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3746465">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,25:44:99:663,0,538:127	0/1:41,26:67:99:659,0,1223:127	0/1:42,19:61:99:519,0,1245:127
11	3789982	.	GAAAAAGAAAAA	G	1007.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3)|Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3);dbSNP139.ID=rs146552084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146552084" target="_blank">rs146552084</a>;ExAC.Info.AC=32406;ExAC.Info.AN=126586;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=22795;ExAC.Info.AC_Hom=4323;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.785-19_785-9delTTTTTCTTTTT;snpeff.Amino_Acid_length=1800;snpeff.Gene_Name=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324932;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000324932;SAVANT_GENE=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;SAVANT_INFO=-/122.8kb/33/7.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.785-19_785-9del11;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUP98+c.785-19_785-9del11+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3789982">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:72:0,72,1211:65	0|1:19,14:33:99:527,0,786:65	0|0:23,0:23:66:0,66,1069:65
11	3803357	.	G	T	2860.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3)|Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3);dbSNP139.ID=rs72844304;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72844304" target="_blank">rs72844304</a>;ExAC.Info.AC=783;ExAC.Info.AN=126688;ExAC.Info.AF=6.181e-03;ExAC.Info.AC_Het=776;ExAC.Info.AC_Hom=2;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.-10C>A;snpeff.Amino_Acid_length=1800;snpeff.Gene_Name=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324932;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324932;SAVANT_GENE=NUP98;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP98" target="_blank">NUP98</a>;SAVANT_INFO=-/122.8kb/33/7.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-10C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUP98+c.-10C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3803357">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,0:103:99:0,309,3524:127	0|0:112,0:112:99:0,337,3993:127	0|1:41,54:95:99:1449,0,1316:127
11	3829419	.	G	C	7246.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3)|Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3);dbSNP139.ID=rs2278845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2278845" target="_blank">rs2278845</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.56-105G>C;snpeff.Amino_Acid_length=344;snpeff.Gene_Name=PGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGAP2" target="_blank">PGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000464906;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGAP2" target="_blank">PGAP2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGAP2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3829419">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1150,96,0:50	1|1:0,28:28:84:1011,84,0:50	1|1:0,17:17:51:636,51,0:50
11	3838899	.	A	T	1608.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3)|Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61899363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61899363" target="_blank">rs61899363</a>;ExAC.Info.AC=7456;ExAC.Info.AN=100516;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=2221;ExAC.Info.AC_Hom=135;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.918A>T;snpeff.Gene_Name=AC090587.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0905872" target="_blank">AC0905872</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000507938;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.435+134A>T;snpeff.Amino_Acid_length=344;snpeff.Gene_Name=PGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0905872" target="_blank">AC0905872</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000464906;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000278243;SAVANT_GENE=PGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGAP2" target="_blank">PGAP2</a>;SAVANT_INFO=+/17.9kb/7/2.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.348+134A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGAP2+c.348+134A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3838899">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1882:127	0|0:70,0:70:99:0,210,2524:127	0|1:26,26:52:99:823,0,804:127
11	3838910	.	G	C	12293.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3)|Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7946577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7946577" target="_blank">rs7946577</a>;ExAC.Info.AC=52133;ExAC.Info.AN=84182;ExAC.Info.AF=0.619;ExAC.Info.AC_Het=4630;ExAC.Info.AC_Hom=5570;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.929G>C;snpeff.Gene_Name=AC090587.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0905872" target="_blank">AC0905872</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000507938;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.435+145G>C;snpeff.Amino_Acid_length=344;snpeff.Gene_Name=PGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0905872" target="_blank">AC0905872</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000464906;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000278243;SAVANT_GENE=PGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGAP2" target="_blank">PGAP2</a>;SAVANT_INFO=+/17.9kb/7/2.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.348+145G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGAP2+c.348+145G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3838910">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1704,141,0:127	1|1:0,67:67:99:2561,201,0:127	1|0:21,19:40:99:565,0,756:127
11	3838953	.	T	C	7435.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3)|Hyperphosphatasia_with_mental_retardation_syndrome_3|_614207_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10835147;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10835147" target="_blank">rs10835147</a>;ExAC.Info.AC=31429;ExAC.Info.AN=43576;ExAC.Info.AF=0.721;ExAC.Info.AC_Het=2678;ExAC.Info.AC_Hom=4956;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.972T>C;snpeff.Gene_Name=AC090587.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0905872" target="_blank">AC0905872</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000507938;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.435+188T>C;snpeff.Amino_Acid_length=344;snpeff.Gene_Name=PGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0905872" target="_blank">AC0905872</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000464906;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000278243;SAVANT_GENE=PGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PGAP2" target="_blank">PGAP2</a>;SAVANT_INFO=+/17.9kb/7/2.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.348+188T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PGAP2+c.348+188T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:3838953">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:971,93,0:65	1|1:0,34:34:99:1243,102,0:65	1|1:0,22:22:66:813,66,0:65
11	4103524	.	A	G	7220.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3)|Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2304891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2304891" target="_blank">rs2304891</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=62953;ExAC.Info.AN=126704;ExAC.Info.AF=0.497;ExAC.Info.AC_Het=29918;ExAC.Info.AC_Hom=16439;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln360Gln/c.1080A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300737;SAVANT_GENE=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;SAVANT_INFO=+/237.5kb/12/4.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1080A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STIM1+c.1080A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4103524">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,51:94:99:1535,0,1178:127	1|0:65,57:122:99:1650,0,1820:127	0|0:114,0:114:99:0,342,3737:127
11	4104007	.	C	A	8831.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=453;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3)|Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3);dbSNP139.ID=rs16929438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16929438" target="_blank">rs16929438</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1138-105C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138C>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300737;SAVANT_GENE=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;SAVANT_INFO=+/237.5kb/12/4.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1138-105C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STIM1+c.1138-105C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4104007">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,68:129:99:1703,0,1870:127	0|0:180,1:181:99:0,507,6344:127	1|0:60,83:143:99:2295,0,1774:127
11	4104060	.	A	C	43706.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=544;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3)|Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3);dbSNP139.ID=rs2898950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2898950" target="_blank">rs2898950</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1138-52A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138A>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300737;SAVANT_GENE=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;SAVANT_INFO=+/237.5kb/12/4.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1138-52A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STIM1+c.1138-52A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4104060">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:5998,511,0:127	1|1:0,203:203:99:7149,613,0:127	1|1:0,172:172:99:6037,517,0:127
11	4104087	.	T	C	25797.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=540;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3)|Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3);dbSNP139.ID=rs10767828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10767828" target="_blank">rs10767828</a>;ExAC.Info.AC=102432;ExAC.Info.AN=126702;ExAC.Info.AF=0.808;ExAC.Info.AC_Het=15818;ExAC.Info.AC_Hom=43216;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1138-25T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:SOAR/CAD];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1138T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300737;SAVANT_GENE=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;SAVANT_INFO=+/237.5kb/12/4.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1138-25T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STIM1+c.1138-25T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4104087">View</a>	GT:AD:DP:GQ:PL:TP	0|1:82,87:169:99:2391,0,2145:127	1|1:0,198:198:99:7068,595,0:127	0|1:98,75:173:99:2204,0,2841:127
11	4104745	.	C	G	13902.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3)|Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3);dbSNP139.ID=rs2289570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2289570" target="_blank">rs2289570</a>;ExAC.Info.AC=111673;ExAC.Info.AN=126400;ExAC.Info.AF=0.883;ExAC.Info.AC_Het=10042;ExAC.Info.AC_Hom=44019;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1474+17C>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1475C>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1475C>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1475C>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1475C>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1475C>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1475C>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1475C>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300737;SAVANT_GENE=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;SAVANT_INFO=+/237.5kb/12/4.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1474+17C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STIM1+c.1474+17C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4104745">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1631,129,0:127	1|1:0,70:70:99:2380,210,0:127	1|1:0,52:52:99:1818,156,0:127
11	4113395	.	G	A	22394.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3)|Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3);dbSNP139.ID=rs1561876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1561876" target="_blank">rs1561876</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=367;snpeff.Amino_Acid_Change=c.*367G>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300737;SAVANT_GENE=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;SAVANT_INFO=+/237.5kb/12/4.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*367G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STIM1+c.*367G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4113395">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,62:127:99:1798,0,1770:127	1|1:0,170:170:99:5808,511,0:127	0|1:56,69:125:99:1928,0,1572:127
11	4113470	.	T	G	7360.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3)|Immunodeficiency_10|_612783_(3)|_Myopathy|_tubular_aggregate|_160565_(3);dbSNP139.ID=rs3750994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750994" target="_blank">rs3750994</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=442;snpeff.Amino_Acid_Change=c.*442T>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300737;SAVANT_GENE=STIM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1" target="_blank">STIM1</a>;SAVANT_INFO=+/237.5kb/12/4.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*442T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STIM1+c.*442T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4113470">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,43:98:99:1170,0,1561:127	0|0:128,0:128:99:0,385,4429:127	1|0:46,54:100:99:1585,0,1297:127
11	4123345	.	C	G	11082.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1348310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1348310" target="_blank">rs1348310</a>;ExAC.Info.AC=112918;ExAC.Info.AN=126606;ExAC.Info.AF=0.892;ExAC.Info.AC_Het=11277;ExAC.Info.AC_Hom=49329;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.108+34C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.109C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.109C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ATP-cone];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.109C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ATP-cone];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.109C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ATP-cone];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.109C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300738;SAVANT_GENE=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;SAVANT_INFO=+/44.1kb/19/3.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.108+34C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRM1+c.108+34C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4123345">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,32:65:99:990,0,968:127	1|1:0,87:87:99:3234,262,0:127	0|1:20,29:49:99:910,0,548:127
11	4123427	.	C	G	4134.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs232054;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=232054" target="_blank">rs232054</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.108+116C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.109C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.109C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ATP-cone];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.109C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ATP-cone];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.109C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ATP-cone];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.109C>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300738;SAVANT_GENE=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;SAVANT_INFO=+/44.1kb/19/3.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.108+116C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRM1+c.108+116C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4123427">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,20:46:99:572,0,768:84	1|0:20,41:61:99:1208,0,489:84	0|0:28,0:28:84:0,84,999:84
11	4133317	.	C	A	17857.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=366;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs56336381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56336381" target="_blank">rs56336381</a>;ExAC.Info.AC=112166;ExAC.Info.AN=126656;ExAC.Info.AF=0.886;ExAC.Info.AC_Het=12283;ExAC.Info.AC_Hom=49653;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.650+25C>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Substrate_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651C>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Substrate_binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.651C>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300738;SAVANT_GENE=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;SAVANT_INFO=+/44.1kb/19/3.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.650+25C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRM1+c.650+25C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4133317">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,60:113:99:1743,0,1535:127	1|1:1,142:143:99:4871,392,0:127	0|1:50,60:110:99:1739,0,1407:127
11	4141132	.	C	A	6522.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs183484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=183484" target="_blank">rs183484</a>;ExAC.Info.AC=56971;ExAC.Info.AN=126704;ExAC.Info.AF=0.450;ExAC.Info.AC_Het=29191;ExAC.Info.AC_Hom=13882;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850C>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Redox-active];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850C>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Redox-active];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850C>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Redox-active];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850C>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Redox-active];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850C>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Redox-active];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850C>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond:Redox-active];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850C>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cga/Aga;snpeff.Amino_Acid_Change=p.Arg284Arg/c.850C>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300738;SAVANT_GENE=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;SAVANT_INFO=+/44.1kb/19/3.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.850C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRM1+c.850C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4141132">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,51:125:99:1197,0,2021:127	1|0:71,59:130:99:1472,0,2158:127	0|0:141,0:141:99:0,424,4865:127
11	4159457	.	A	G	4939.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs9937;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9937" target="_blank">rs9937</a>;ExAC.Info.AC=57900;ExAC.Info.AN=126700;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=29630;ExAC.Info.AC_Hom=14046;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.31T>C;snpeff.Gene_Name=RRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1-AS1" target="_blank">RRM1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000529323;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr741Thr/c.2223A>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1-AS1" target="_blank">RRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphothreonine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.2223A>G;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1-AS1" target="_blank">RRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300738;SAVANT_GENE=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;SAVANT_INFO=+/44.1kb/19/3.1kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2223A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRM1+c.2223A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4159457">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,46:89:99:1334,0,2267:127	1|0:45,39:84:99:991,0,1354:127	0|0:61,0:61:99:0,186,2987:127
11	4159466	.	G	A	13401.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1042858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1042858" target="_blank">rs1042858</a>;ExAC.Info.AC=113050;ExAC.Info.AN=126702;ExAC.Info.AF=0.892;ExAC.Info.AC_Het=11631;ExAC.Info.AC_Hom=50616;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.22C>T;snpeff.Gene_Name=RRM1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1-AS1" target="_blank">RRM1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000529323;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala744Ala/c.2232G>A;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1-AS1" target="_blank">RRM1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300738;SAVANT_GENE=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;SAVANT_INFO=+/44.1kb/19/3.1kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2232G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRM1+c.2232G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4159466">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,50:100:99:1900,0,1450:127	1|1:0,92:92:99:3631,277,0:127	0|1:33,31:64:99:895,0,1030:127
11	4159764	.	A	T	13044.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1042919;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1042919" target="_blank">rs1042919</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=151;snpeff.Amino_Acid_Change=c.*151A>T;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300738;SAVANT_GENE=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;SAVANT_INFO=+/44.1kb/19/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*151A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRM1+c.*151A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4159764">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,40:83:99:1073,0,1650:127	1|1:0,115:115:99:3851,345,0:127	0|1:48,39:87:99:1032,0,1760:127
11	4159770	.	AT	A	16430.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs866902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=866902" target="_blank">rs866902</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=158;snpeff.Amino_Acid_Change=c.*158delT;snpeff.Amino_Acid_length=792;snpeff.Gene_Name=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300738;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000300738;SAVANT_GENE=RRM1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRM1" target="_blank">RRM1</a>;SAVANT_INFO=+/44.1kb/19/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*167delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRM1+c.*167delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4159770">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,36:75:99:1299,0,878:127	1|1:0,107:107:99:4735,337,0:127	0|1:37,38:75:99:1301,0,829:127
11	4185595	.	T	G	11546.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs979942;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=979942" target="_blank">rs979942</a>;ExAC.Info.AC=61497;ExAC.Info.AN=117016;ExAC.Info.AF=0.526;ExAC.Info.AC_Het=27365;ExAC.Info.AC_Hom=16839;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=979942" target="_blank">rs979942</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4185595">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,36:80:99:1019,0,1236:127	1|1:0,86:86:99:3184,259,0:127	0|1:38,28:66:99:797,0,1117:127
11	4388905	.	C	T	9167.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11031960;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11031960" target="_blank">rs11031960</a>;ExAC.Info.AC=36741;ExAC.Info.AN=125336;ExAC.Info.AF=0.293;ExAC.Info.AC_Het=25305;ExAC.Info.AC_Hom=5681;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.621C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR52B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B4" target="_blank">OR52B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408920;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser207Ser/c.621G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR52B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B4" target="_blank">OR52B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408920;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000408920;SAVANT_GENE=OR52B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B4" target="_blank">OR52B4</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.621G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52B4+c.621G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4388905">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,65:123:99:1799,0,1608:127	0|0:152,0:152:99:0,456,5197:127	1|0:53,70:123:99:2166,0,1572:127
11	4389404	.	AG	A	7198.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11310407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11310407" target="_blank">rs11310407</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=12730696;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12730696" target="_blank">12730696</a>;ExAC.Info.AC=44590;ExAC.Info.AN=125980;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=27727;ExAC.Info.AC_Hom=8249;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.121delG;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR52B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B4" target="_blank">OR52B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408920;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=ctt/;snpeff.Amino_Acid_Change=p.Leu41fs/c.121delC;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR52B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B4" target="_blank">OR52B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408920;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(OR52B4|ENSG00000221996|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000408920;SAVANT_GENE=OR52B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B4" target="_blank">OR52B4</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.121delC;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52B4+c.121delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4389404">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,27:68:99:760,0,1255:127	1|1:0,67:67:99:2358,202,0:127	0|0:76,0:76:99:0,229,2707:127
11	4389587	.	G	C	2291.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7929171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7929171" target="_blank">rs7929171</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=62;snpeff.Amino_Acid_Change=c.-62C>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR52B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B4" target="_blank">OR52B4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000408920;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000408920;SAVANT_GENE=OR52B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B4" target="_blank">OR52B4</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-62C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52B4+c.-62C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4389587">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,6:24:99:163,0,588:62	0|0:30,0:30:90:0,90,1050:62	1|1:0,21:21:63:827,63,0:62
11	4409511	.	A	G	45586.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=569;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12805578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12805578" target="_blank">rs12805578</a>;ExAC.Info.AC=99935;ExAC.Info.AN=124882;ExAC.Info.AF=0.800;ExAC.Info.AC_Het=19461;ExAC.Info.AC_Hom=40000;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.735+19T>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=TRIM21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM21" target="_blank">TRIM21</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000543625;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254436;SAVANT_GENE=TRIM21;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM21" target="_blank">TRIM21</a>;SAVANT_INFO=-/8.8kb/7/1.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.735+19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM21+c.735+19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4409511">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,177:178:99:6056,524,0:127	1|1:0,204:204:99:7124,612,0:127	1|1:0,187:187:99:6550,562,0:127
11	4466833	.	T	A	41471.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=551;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs331538;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=331538" target="_blank">rs331538</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=331538" target="_blank">rs331538</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4466833">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,176:176:99:5778,529,0:127	1|1:0,204:204:99:7055,613,0:127	1|1:0,171:171:99:5715,514,0:127
11	4592706	.	T	TAC	2881.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=284;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs141600462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141600462" target="_blank">rs141600462</a>;ExAC.Info.AC=18081;ExAC.Info.AN=69262;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=5540;ExAC.Info.AC_Hom=1389;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=tgt/tgtGT;snpeff.Amino_Acid_Change=p.Cys200_Met201fs/c.600_601insGT;snpeff.Amino_Acid_length=217;snpeff.Gene_Name=C11orf40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf40" target="_blank">C11orf40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307616;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;LOF=(C11orf40|ENSG00000171987|1|1.00);TYPE=Insertion;SAVANT_ENST=ENST00000307616;SAVANT_GENE=C11orf40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf40" target="_blank">C11orf40</a>;SAVANT_INFO=-/6.4kb/4/0.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.599_600dupGT;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf40+c.599_600dupGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4592706">View</a>	GT:AD:DP:GQ:PL:TP	0|0:97,0:97:99:0,292,3803:127	0|0:94,0:94:99:0,283,4159:127	0|1:45,48:93:99:1464,0,1405:127
11	4592708	.	C	CAG	6737.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs71280817;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71280817" target="_blank">rs71280817</a>;ExAC.Info.AC=20265;ExAC.Info.AN=87214;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=5718;ExAC.Info.AC_Hom=1401;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=tgt/tCTgt;snpeff.Amino_Acid_Change=p.Cys200_Met201fs/c.598_599insCT;snpeff.Amino_Acid_length=217;snpeff.Gene_Name=C11orf40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf40" target="_blank">C11orf40</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307616;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;LOF=(C11orf40|ENSG00000171987|1|1.00);TYPE=Insertion;SAVANT_ENST=ENST00000307616;SAVANT_GENE=C11orf40;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf40" target="_blank">C11orf40</a>;SAVANT_INFO=-/6.4kb/4/0.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.597_598dupCT;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf40+c.597_598dupCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4592708">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,55:96:99:1624,0,1564:127	0|0:93,0:93:99:0,280,4196:127	1|0:53,44:97:99:1352,0,1493:127
11	4608262	.	A	C	16132.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=432;MQ=62.82;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12793957;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12793957" target="_blank">rs12793957</a>;ExAC.Info.AC=25877;ExAC.Info.AN=126700;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=19496;ExAC.Info.AC_Hom=3155;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.220A>C;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=OR52I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52I2" target="_blank">OR52I2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312614;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Ctc;snpeff.Amino_Acid_Change=p.Ile74Leu/c.220A>C;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=OR52I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52I2" target="_blank">OR52I2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312614;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312614;SAVANT_GENE=OR52I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52I2" target="_blank">OR52I2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.220A>C_p.Ile74Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52I2+c.220A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4608262">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,62:141:99:1912,0,2304:97	1|1:0,144:144:99:5538,433,0:97	0|0:137,10:147:97:0,97,4610:97
11	4608542	.	C	T	3802.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=501;MQ=66.79;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1847632;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1847632" target="_blank">rs1847632</a>;ExAC.Info.AC=44113;ExAC.Info.AN=126696;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=26905;ExAC.Info.AC_Hom=8537;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=OR52I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52I2" target="_blank">OR52I2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312614;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500C>T;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=OR52I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52I2" target="_blank">OR52I2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312614;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr167Met/c.500C>T;snpeff.Amino_Acid_length=350;snpeff.Gene_Name=OR52I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52I2" target="_blank">OR52I2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312614;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312614;SAVANT_GENE=OR52I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52I2" target="_blank">OR52I2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.500C>T_p.Thr167Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52I2+c.500C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4608542">View</a>	GT:AD:DP:GQ:PL:TP	0|0:163,0:163:99:0,490,5813:127	0|0:201,0:201:99:0,604,7120:127	0|1:68,69:137:99:1920,0,2013:127
11	4615234	.	A	G	20805.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=984;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4910511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4910511" target="_blank">rs4910511</a>;ExAC.Info.AC=40925;ExAC.Info.AN=126704;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=26656;ExAC.Info.AC_Hom=7128;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His13Arg/c.38A>G;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=OR52I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52I1" target="_blank">OR52I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450052;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000450052;SAVANT_GENE=OR52I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52I1" target="_blank">OR52I1</a>;SAVANT_INFO=+/1.2kb/2/1.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.38A>G_p.His13Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52I1+c.38A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4615234">View</a>	GT:AD:DP:GQ:PL:TP	1|0:155,163:318:99:4793,0,4039:127	0|0:332,0:332:99:0,997,11636:127	1|0:178,156:334:99:4508,0,5205:127
11	4615508	.	C	G	13447.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=401;MQ=59.09;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2010719;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2010719" target="_blank">rs2010719</a>;ExAC.Info.AC=81945;ExAC.Info.AN=126702;ExAC.Info.AF=0.647;ExAC.Info.AC_Het=28487;ExAC.Info.AC_Hom=26698;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcG;snpeff.Amino_Acid_Change=p.Ser104Ser/c.312C>G;snpeff.Amino_Acid_length=348;snpeff.Gene_Name=OR52I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52I1" target="_blank">OR52I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450052;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000450052;SAVANT_GENE=OR52I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52I1" target="_blank">OR52I1</a>;SAVANT_INFO=+/1.2kb/2/1.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.312C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52I1+c.312C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4615508">View</a>	GT:AD:DP:GQ:PL:TP	0|1:110,43:153:99:1024,0,3112:127	1|1:0,118:118:99:4033,354,0:127	0|1:88,42:130:99:1070,0,2448:127
11	4624432	.	C	A	3879.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=157;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs17314159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17314159" target="_blank">rs17314159</a>;ExAC.Info.AC=41142;ExAC.Info.AN=126698;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=27268;ExAC.Info.AC_Hom=6915;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.522+43G>T;snpeff.Amino_Acid_length=485;snpeff.Gene_Name=TRIM68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM68" target="_blank">TRIM68</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300747;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300747;SAVANT_GENE=TRIM68;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM68" target="_blank">TRIM68</a>;SAVANT_INFO=-/9.6kb/7/3.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.522+43G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM68+c.522+43G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4624432">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,29:53:99:800,0,688:127	0|0:58,0:58:99:0,174,2225:127	1|0:22,24:46:99:704,0,708:127
11	4661285	.	A	G	10764.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs905871;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=905871" target="_blank">rs905871</a>;ExAC.Info.AC=30947;ExAC.Info.AN=126702;ExAC.Info.AF=0.244;ExAC.Info.AC_Het=21510;ExAC.Info.AC_Hom=4706;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.265A>G;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR51D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51D1" target="_blank">OR51D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357605;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile89Val/c.265A>G;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR51D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51D1" target="_blank">OR51D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357605;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357605;SAVANT_GENE=OR51D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51D1" target="_blank">OR51D1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.265A>G_p.Ile89Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51D1+c.265A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4661285">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,45:87:99:1304,0,1115:127	1|1:0,88:88:99:3374,265,0:127	0|0:70,0:70:99:0,210,2437:127
11	4674575	.	G	A	13409.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3817098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3817098" target="_blank">rs3817098</a>;ExAC.Info.AC=54338;ExAC.Info.AN=126704;ExAC.Info.AF=0.429;ExAC.Info.AC_Het=28619;ExAC.Info.AC_Hom=12856;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro273Pro/c.819G>A;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR51E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51E1" target="_blank">OR51E1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396952;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396952;SAVANT_GENE=OR51E1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51E1" target="_blank">OR51E1</a>;SAVANT_INFO=+/12.1kb/2/3.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.819G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51E1+c.819G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4674575">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,41:100:99:1020,0,1815:127	1|1:0,137:137:99:4826,412,0:127	0|0:121,0:121:99:0,364,4172:127
11	4703165	.	C	A	22010.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1123991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1123991" target="_blank">rs1123991</a>;ExAC.Info.AC=104038;ExAC.Info.AN=126704;ExAC.Info.AF=0.821;ExAC.Info.AC_Het=17572;ExAC.Info.AC_Hom=43213;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.777C>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR51E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51E2" target="_blank">OR51E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396950;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtT;snpeff.Amino_Acid_Change=p.Val259Val/c.777G>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR51E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51E2" target="_blank">OR51E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396950;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396950;SAVANT_GENE=OR51E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51E2" target="_blank">OR51E2</a>;SAVANT_INFO=-/17.7kb/2/2.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.777G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51E2+c.777G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4703165">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2172,180,0:127	1|1:0,113:113:99:3995,339,0:127	1|1:0,85:85:99:3119,255,0:127
11	4711986	.	T	C	6174.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11033350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11033350" target="_blank">rs11033350</a>;ExAC.Info.AC=3352;ExAC.Info.AN=17976;ExAC.Info.AF=0.186;ExAC.Info.AC_Het=952;ExAC.Info.AC_Hom=170;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-51+6897A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR51E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51E2" target="_blank">OR51E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396950;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396950;SAVANT_GENE=OR51E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51E2" target="_blank">OR51E2</a>;SAVANT_INFO=-/17.7kb/2/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-8045A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51E2+c.-8045A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4711986">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,31:57:99:906,0,727:127	1|1:0,56:56:99:1980,167,0:127	0|0:57,0:57:99:0,171,1931:127
11	4712353	.	T	C	16929.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=443;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11033352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11033352" target="_blank">rs11033352</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=5084;ExAC.Info.AN=23736;ExAC.Info.AF=0.214;ExAC.Info.AC_Het=2994;ExAC.Info.AC_Hom=589;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.580A>G;snpeff.Gene_Name=OR51C1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51C1P" target="_blank">OR51C1P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-51+6530A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR51E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51C1P" target="_blank">OR51C1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396950;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357764:ENST00000396950;SAVANT_GENE=OR51C1P:OR51E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51C1P:OR51E2" target="_blank">OR51C1P:OR51E2</a>;SAVANT_INFO=-/1.4kb/2/0.9kb:-/17.7kb/2/2.8kb;SAVANT_LOC=Ex2:5UTR;SAVANT_HGVS=c.574A>G_p.Thr192Ala:c.-8412A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51C1P:OR51E2+c.574A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4712353">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,65:136:99:1883,0,1971:127	1|1:0,163:163:99:5795,490,0:127	0|0:143,1:144:99:0,422,5079:127
11	4712562	.	C	T	3080.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=D;dbNSFPv2.8.MetalrPred=D;dbSNP139.ID=rs141670434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141670434" target="_blank">rs141670434</a>;ExAC.Info.AC=6;ExAC.Info.AN=27948;ExAC.Info.AF=2.147e-04;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.371G>A;snpeff.Gene_Name=OR51C1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51C1P" target="_blank">OR51C1P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608504;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-51+6321G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR51E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51C1P" target="_blank">OR51C1P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396950;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357764:ENST00000396950;SAVANT_GENE=OR51C1P:OR51E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51C1P:OR51E2" target="_blank">OR51C1P:OR51E2</a>;SAVANT_INFO=-/1.4kb/2/0.9kb:-/17.7kb/2/2.8kb;SAVANT_LOC=Ex2:5UTR;SAVANT_HGVS=c.365G>A_p.Arg122His:c.-8621G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51C1P:OR51E2+c.365G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4712562">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,1:123:99:0,331,3988:127	0|0:144,0:144:99:0,432,4872:127	0|1:57,50:107:99:1559,0,1623:127
11	4730985	.	C	T	51230.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=697;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4619142;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4619142" target="_blank">rs4619142</a>;ExAC.Info.AC=84392;ExAC.Info.AN=88510;ExAC.Info.AF=0.953;ExAC.Info.AC_Het=488;ExAC.Info.AC_Hom=12068;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.187C>T;snpeff.Gene_Name=OR51F5P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F5P" target="_blank">OR51F5P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609912;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F5P" target="_blank">OR51F5P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357170;SAVANT_GENE=AC103710.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1037101" target="_blank">AC1037101</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.151C>T_p.His51Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AC1037101+c.151C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4730985">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,228:228:99:7069,685,0:127	1|1:0,248:248:99:8146,745,0:127	1|1:0,221:221:99:7355,663,0:127
11	4731180	.	G	A	49172.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=656;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4432013;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4432013" target="_blank">rs4432013</a>;ExAC.Info.AC=19866;ExAC.Info.AN=23864;ExAC.Info.AF=0.832;ExAC.Info.AC_Het=1933;ExAC.Info.AC_Hom=6179;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.382G>A;snpeff.Gene_Name=OR51F5P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F5P" target="_blank">OR51F5P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609912;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F5P" target="_blank">OR51F5P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357170;SAVANT_GENE=AC103710.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1037101" target="_blank">AC1037101</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.346G>A_p.Val116Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AC1037101+c.346G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4731180">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,220:220:99:7005,660,0:127	1|1:0,232:232:99:7911,697,0:127	1|1:0,204:204:99:6843,613,0:127
11	4731468	.	G	A	26268.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4436535;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4436535" target="_blank">rs4436535</a>;ExAC.Info.AC=18127;ExAC.Info.AN=24830;ExAC.Info.AF=0.730;ExAC.Info.AC_Het=2408;ExAC.Info.AC_Hom=5214;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.670G>A;snpeff.Gene_Name=OR51F5P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F5P" target="_blank">OR51F5P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609912;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F5P" target="_blank">OR51F5P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357170;SAVANT_GENE=AC103710.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1037101" target="_blank">AC1037101</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.634G>A_p.Val212Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AC1037101+c.634G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4731468">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,99:99:99:3465,300,0:127	1|1:0,128:128:99:4578,385,0:127	1|1:0,103:103:99:3554,309,0:127
11	4731583	.	C	T	43630.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=567;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4471413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4471413" target="_blank">rs4471413</a>;ExAC.Info.AC=20894;ExAC.Info.AN=26850;ExAC.Info.AF=0.778;ExAC.Info.AC_Het=1972;ExAC.Info.AC_Hom=6204;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.785C>T;snpeff.Gene_Name=OR51F5P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F5P" target="_blank">OR51F5P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000609912;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F5P" target="_blank">OR51F5P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357170;SAVANT_GENE=AC103710.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1037101" target="_blank">AC1037101</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.749C>T_p.Pro250Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AC1037101+c.749C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4731583">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,182:182:99:6163,547,0:127	1|1:0,212:212:99:7400,637,0:127	1|1:0,173:173:99:6116,520,0:127
11	4790268	.	C	A	2446.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1030726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1030726" target="_blank">rs1030726</a>;ExAC.Info.AC=25556;ExAC.Info.AN=124686;ExAC.Info.AF=0.205;ExAC.Info.AC_Het=17983;ExAC.Info.AC_Hom=3474;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+1697C>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.901C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Tac;snpeff.Amino_Acid_Change=p.Asp301Tyr/c.901G>T;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.880G>T_p.Asp294Tyr:c.-219174C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.880G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790268">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,426,4761:127	0|0:167,1:168:99:0,464,5814:127	0|1:71,46:117:99:1242,0,2074:127
11	4790308	.	A	G	1926.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1030725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1030725" target="_blank">rs1030725</a>;ExAC.Info.AC=26136;ExAC.Info.AN=126236;ExAC.Info.AF=0.207;ExAC.Info.AC_Het=18234;ExAC.Info.AC_Hom=3514;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+1737A>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.861A>G;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn287Asn/c.861T>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.840T>C_p.=:c.-219134A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.840T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790308">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,337,3788:127	0|0:129,1:130:99:0,345,4627:127	0|1:63,35:98:99:982,0,1841:127
11	4790410	.	A	G	2750.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=393;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1030724;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1030724" target="_blank">rs1030724</a>;ExAC.Info.AC=26999;ExAC.Info.AN=126696;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=19478;ExAC.Info.AC_Hom=3746;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+1839A>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759A>G;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His253His/c.759T>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.738T>C_p.=:c.-219032A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.738T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790410">View</a>	GT:AD:DP:GQ:PL:TP	0|0:124,0:124:99:0,373,4265:127	0|0:154,0:154:99:0,463,5610:127	0|1:64,51:115:99:1394,0,1950:127
11	4790471	.	G	A	5718.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1030723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1030723" target="_blank">rs1030723</a>;ExAC.Info.AC=15074;ExAC.Info.AN=126704;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=12042;ExAC.Info.AC_Hom=1525;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+1900G>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.698G>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCt/tTt;snpeff.Amino_Acid_Change=p.Ser233Phe/c.698C>T;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.677C>T_p.Ser226Phe:c.-218971G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.677C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790471">View</a>	GT:AD:DP:GQ:PL:TP	0|0:158,0:158:99:0,497,7480:127	0|0:218,0:218:99:0,662,10231:127	0|1:77,72:149:99:2878,0,3246:127
11	4790474	.	T	C	5700.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=536;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11033793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11033793" target="_blank">rs11033793</a>;ExAC.Info.AC=15073;ExAC.Info.AN=126704;ExAC.Info.AF=0.119;ExAC.Info.AC_Het=12021;ExAC.Info.AC_Hom=1524;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+1903T>C;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.695T>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His232Arg/c.695A>G;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.674A>G_p.His225Arg:c.-218968T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.674A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790474">View</a>	GT:AD:DP:GQ:PL:TP	0|0:165,0:165:99:0,503,7586:127	0|0:221,0:221:99:0,674,10399:127	0|1:77,73:150:99:2869,0,3113:127
11	4790671	.	C	T	3440.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=509;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11033795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11033795" target="_blank">rs11033795</a>;ExAC.Info.AC=27000;ExAC.Info.AN=126702;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=19480;ExAC.Info.AC_Hom=3741;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+2100C>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498C>T;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.498C>T;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttG/ttA;snpeff.Amino_Acid_Change=p.Leu166Leu/c.498G>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.477G>A_p.=:c.-218771C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.477G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790671">View</a>	GT:AD:DP:GQ:PL:TP	0|0:148,0:148:99:0,445,5513:127	0|0:215,0:215:99:0,646,8028:127	0|1:81,65:146:99:1739,0,2602:127
11	4790758	.	G	A	4108.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=491;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11033796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11033796" target="_blank">rs11033796</a>;ExAC.Info.AC=27552;ExAC.Info.AN=126696;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=19542;ExAC.Info.AC_Hom=3968;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+2187G>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.411G>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.411G>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp137Asp/c.411C>T;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.390C>T_p.=:c.-218684G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.390C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790758">View</a>	GT:AD:DP:GQ:PL:TP	0|0:145,0:145:99:0,436,5230:127	0|0:191,0:191:99:0,573,7003:127	0|1:81,74:155:99:2073,0,2381:127
11	4790857	.	A	G	5622.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=563;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11033797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11033797" target="_blank">rs11033797</a>;ExAC.Info.AC=26973;ExAC.Info.AN=126696;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=19462;ExAC.Info.AC_Hom=3682;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+2286A>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312A>G;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr104Tyr/c.312T>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.291T>C_p.=:c.-218585A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.291T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790857">View</a>	GT:AD:DP:GQ:PL:TP	0|0:174,0:174:99:0,523,5628:127	0|0:202,0:202:99:0,607,6981:127	0|1:94,93:187:99:2830,0,2642:127
11	4790873	.	CG	C	6815.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=543;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs34672924;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34672924" target="_blank">rs34672924</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=12730696;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12730696" target="_blank">12730696</a>;ExAC.Info.AC=26920;ExAC.Info.AN=126702;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=19512;ExAC.Info.AC_Hom=3620;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+2303delG;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295delG;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=cgt/;snpeff.Amino_Acid_Change=p.Arg99fs/c.295delC;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(OR51F1|ENSG00000188069|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.274delC:c.-218568delG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=FC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.274delC:c.-218568delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790873">View</a>	GT:AD:DP:GQ:PL:TP	0|0:169,0:169:99:0,515,7610:127	0|0:198,0:198:99:0,617,9078:127	0|1:87,89:176:99:3431,0,3434:127
11	4790881	.	A	G	6762.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=557;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs111736749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111736749" target="_blank">rs111736749</a>;ExAC.Info.AC=11296;ExAC.Info.AN=126702;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=10042;ExAC.Info.AC_Hom=603;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+2310A>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.288A>G;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe96Phe/c.288T>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.267T>C_p.=:c.-218561A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.267T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790881">View</a>	GT:AD:DP:GQ:PL:TP	0|0:169,0:169:99:0,512,7542:127	0|0:212,0:212:99:0,650,9516:127	0|1:89,87:176:99:3400,0,3425:127
11	4790948	.	C	A	6474.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11033800;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11033800" target="_blank">rs11033800</a>;ExAC.Info.AC=26838;ExAC.Info.AN=126700;ExAC.Info.AF=0.212;ExAC.Info.AC_Het=19582;ExAC.Info.AC_Hom=3487;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+2377C>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.221C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aTg;snpeff.Amino_Acid_Change=p.Arg74Met/c.221G>T;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.200G>T_p.Arg67Met:c.-218494C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.200G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790948">View</a>	GT:AD:DP:GQ:PL:TP	0|0:157,0:157:99:0,485,7151:127	0|0:217,0:217:99:0,665,9899:127	0|1:96,83:179:99:3256,0,3699:127
11	4790951	.	A	G	6468.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=560;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11033801;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11033801" target="_blank">rs11033801</a>;ExAC.Info.AC=26710;ExAC.Info.AN=126700;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=19533;ExAC.Info.AC_Hom=3448;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+2380A>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.218A>G;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tCc;snpeff.Amino_Acid_Change=p.Phe73Ser/c.218T>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR51F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380383;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000343430:ENST00000380390;SAVANT_GENE=OR51F1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51F1:MMP26" target="_blank">OR51F1:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.197T>C_p.Phe66Ser:c.-218491A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51F1:MMP26+c.197T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4790951">View</a>	GT:AD:DP:GQ:PL:TP	0|0:160,0:160:99:0,497,7297:127	0|0:222,0:222:99:0,671,9977:127	0|1:94,84:178:99:3253,0,3700:127
11	4824878	.	A	C	10938.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2053116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2053116" target="_blank">rs2053116</a>;ExAC.Info.AC=38502;ExAC.Info.AN=126704;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=24644;ExAC.Info.AC_Hom=6917;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+36307A>C;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Gcc;snpeff.Amino_Acid_Change=p.Ser324Ala/c.970T>G;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=OR52R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380382;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390:ENST00000356069;SAVANT_GENE=MMP26:OR52R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26:OR52R1" target="_blank">MMP26:OR52R1</a>;SAVANT_INFO=+/225.2kb/7/1.2kb:-/0.9kb/1/0.9kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-184564A>C:c.733T>G_p.Ser245Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26:OR52R1+c.-184564A>C:c.733T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4824878">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,39:79:99:1238,0,1077:127	0|0:108,0:108:99:0,325,3782:127	1|1:0,96:96:99:3429,288,0:127
11	4825010	.	T	A	12422.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=330;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6578533;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6578533" target="_blank">rs6578533</a>;ExAC.Info.AC=38457;ExAC.Info.AN=126704;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=24620;ExAC.Info.AC_Hom=6912;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+36439T>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Tat;snpeff.Amino_Acid_Change=p.Asn280Tyr/c.838A>T;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=OR52R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380382;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390:ENST00000356069;SAVANT_GENE=MMP26:OR52R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26:OR52R1" target="_blank">MMP26:OR52R1</a>;SAVANT_INFO=+/225.2kb/7/1.2kb:-/0.9kb/1/0.9kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-184432T>A:c.601A>T_p.Asn201Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26:OR52R1+c.-184432T>A:c.601A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4825010">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,49:93:99:1269,0,1168:127	0|0:129,0:129:99:0,387,4259:127	1|1:0,108:108:99:3551,325,0:127
11	4825225	.	A	G	10706.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7941731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7941731" target="_blank">rs7941731</a>;ExAC.Info.AC=38429;ExAC.Info.AN=126702;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=24620;ExAC.Info.AC_Hom=6896;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-145+36654A>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile208Thr/c.623T>C;snpeff.Amino_Acid_length=394;snpeff.Gene_Name=OR52R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380382;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390:ENST00000356069;SAVANT_GENE=MMP26:OR52R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26:OR52R1" target="_blank">MMP26:OR52R1</a>;SAVANT_INFO=+/225.2kb/7/1.2kb:-/0.9kb/1/0.9kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-184217A>G:c.386T>C_p.Ile129Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26:OR52R1+c.-184217A>G:c.386T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4825225">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,42:84:99:1283,0,1014:127	0|0:97,1:98:99:0,252,3335:127	1|1:0,85:85:99:3110,256,0:127
11	4928866	.	C	T	17576.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=601;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs7941509;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7941509" target="_blank">rs7941509</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=67811;ExAC.Info.AN=126702;ExAC.Info.AF=0.535;ExAC.Info.AC_Het=27078;ExAC.Info.AC_Hom=20351;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-80432C>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359350;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala89Ala/c.267C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359350;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000359350:ENST00000380390;SAVANT_GENE=OR51A7:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A7:MMP26" target="_blank">OR51A7:MMP26</a>;SAVANT_INFO=+/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.267C>T_p.=:c.-80576C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A7:MMP26+c.267C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4928866">View</a>	GT:AD:DP:GQ:PL:TP	1|0:98,83:181:99:2183,0,2962:127	0|0:268,0:268:99:0,804,9389:127	1|1:0,152:152:99:5506,457,0:127
11	4936613	.	G	T	3770.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16907312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16907312" target="_blank">rs16907312</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=18697;ExAC.Info.AN=126698;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=15055;ExAC.Info.AC_Hom=1773;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-72685G>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.281G>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR51G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322013;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gAa;snpeff.Amino_Acid_Change=p.Ala94Glu/c.281C>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR51G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322013;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390:ENST00000322013;SAVANT_GENE=MMP26:OR51G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26:OR51G2" target="_blank">MMP26:OR51G2</a>;SAVANT_INFO=+/225.2kb/7/1.2kb:-/1.0kb/1/1.0kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-72829G>T:c.281C>A_p.Ala94Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26:OR51G2+c.-72829G>T:c.281C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4936613">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,232,2964:127	0|0:111,0:111:99:0,334,4105:127	0|1:54,64:118:99:1904,0,1634:127
11	4945196	.	T	G	12274.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1378739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1378739" target="_blank">rs1378739</a>;ExAC.Info.AC=75777;ExAC.Info.AN=126702;ExAC.Info.AF=0.598;ExAC.Info.AC_Het=29543;ExAC.Info.AC_Hom=23059;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-64102T>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374T>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR51G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321961;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.374T>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR51G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321961;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAc/tCc;snpeff.Amino_Acid_Change=p.Tyr125Ser/c.374A>C;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR51G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321961;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321961:ENST00000380390;SAVANT_GENE=OR51G1:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51G1:MMP26" target="_blank">OR51G1:MMP26</a>;SAVANT_INFO=-/1.1kb/1/1.1kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.374A>C_p.Tyr125Ser:c.-64246T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51G1:MMP26+c.374A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4945196">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1765,147,0:127	1|1:0,66:66:99:2323,198,0:127	1|0:33,27:60:99:779,0,890:127
11	4964627	.	C	A	904.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2595993;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2595993" target="_blank">rs2595993</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-44671C>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390;SAVANT_GENE=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;SAVANT_INFO=+/225.2kb/7/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44815C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26+c.-44815C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4964627">View</a>	GT:AD:DP:GQ:PL:TP	0|0:11,0:11:33:0,33,456:33	0|0:32,0:32:96:0,96,1274:33	0|1:17,17:34:99:471,0,557:33
11	4964649	.	G	T	8644.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2595992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2595992" target="_blank">rs2595992</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-44649G>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390;SAVANT_GENE=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;SAVANT_INFO=+/225.2kb/7/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44793G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26+c.-44793G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4964649">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:433,36,0:114	1|1:0,42:42:99:1471,126,0:114	1|1:0,40:40:99:1373,120,0:114
11	4964753	.	A	G	27480.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2605301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2605301" target="_blank">rs2605301</a>;ExAC.Info.AC=14524;ExAC.Info.AN=18062;ExAC.Info.AF=0.804;ExAC.Info.AC_Het=2048;ExAC.Info.AC_Hom=5074;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-44545A>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390;SAVANT_GENE=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;SAVANT_INFO=+/225.2kb/7/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44689A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26+c.-44689A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4964753">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2680,225,0:127	1|1:0,129:129:99:4656,388,0:127	1|1:0,102:102:99:3671,307,0:127
11	4964784	.	A	T	25463.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2605302;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2605302" target="_blank">rs2605302</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-44514A>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390;SAVANT_GENE=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;SAVANT_INFO=+/225.2kb/7/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44658A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26+c.-44658A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4964784">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:2889,273,0:127	1|1:0,131:131:99:4173,393,0:127	1|1:0,96:96:99:3105,288,0:127
11	4965239	.	G	T	14295.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2570581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2570581" target="_blank">rs2570581</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-44059G>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390;SAVANT_GENE=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;SAVANT_INFO=+/225.2kb/7/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44203G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26+c.-44203G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4965239">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1837,158,0:127	1|1:0,73:73:99:2565,219,0:127	1|1:0,56:56:99:1920,168,0:127
11	4965301	.	G	T	15119.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2605303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2605303" target="_blank">rs2605303</a>;ExAC.Info.AC=18251;ExAC.Info.AN=18292;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=21;ExAC.Info.AC_Hom=7815;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-43997G>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390;SAVANT_GENE=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;SAVANT_INFO=+/225.2kb/7/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44141G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26+c.-44141G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4965301">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2140,189,0:127	1|1:0,68:68:99:2504,205,0:127	1|1:0,59:59:99:1987,177,0:127
11	4965398	.	C	A	2776.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72858196;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72858196" target="_blank">rs72858196</a>;ExAC.Info.AC=1864;ExAC.Info.AN=20236;ExAC.Info.AF=0.092;ExAC.Info.AC_Het=1472;ExAC.Info.AC_Hom=108;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-43900C>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390;SAVANT_GENE=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;SAVANT_INFO=+/225.2kb/7/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-44044C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26+c.-44044C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4965398">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,26:49:99:694,0,649:127	0|0:61,0:61:99:0,182,2059:127	1|0:19,18:37:99:517,0,559:127
11	4967468	.	G	A	66952.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=910;MQ=65.75;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28698374;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28698374" target="_blank">rs28698374</a>;ExAC.Info.AC=107559;ExAC.Info.AN=126694;ExAC.Info.AF=0.849;ExAC.Info.AC_Het=15838;ExAC.Info.AC_Hom=45843;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-41830G>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.863G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380373;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr288Met/c.863C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380373;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380373:ENST00000380390;SAVANT_GENE=OR51A4:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A4:MMP26" target="_blank">OR51A4:MMP26</a>;SAVANT_INFO=-/1.0kb/1/1.0kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.863C>T_p.Thr288Met:c.-41974G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A4:MMP26+c.863C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4967468">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,249:249:99:8126,748,0:127	1|1:0,303:303:99:10303,910,0:127	1|1:0,358:358:99:12309,1076,0:127
11	4967651	.	A	G	18357.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=360;MQ=49.15;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76895759;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76895759" target="_blank">rs76895759</a>;ExAC.Info.AC=28432;ExAC.Info.AN=126598;ExAC.Info.AF=0.225;ExAC.Info.AC_Het=17636;ExAC.Info.AC_Hom=3685;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-41647A>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.680A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380373;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu227Pro/c.680T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380373;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380373:ENST00000380390;SAVANT_GENE=OR51A4:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A4:MMP26" target="_blank">OR51A4:MMP26</a>;SAVANT_INFO=-/1.0kb/1/1.0kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.680T>C_p.Leu227Pro:c.-41791A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A4:MMP26+c.680T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4967651">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3341,280,0:127	1|1:0,103:103:99:3689,310,0:127	1|0:127,37:164:99:838,0,4043:127
11	4967678	.	G	A	3804.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=325;MQ=45.57;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12271991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12271991" target="_blank">rs12271991</a>;ExAC.Info.AC=12189;ExAC.Info.AN=126590;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=9240;ExAC.Info.AC_Hom=293;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-41620G>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.653G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380373;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCt/tTt;snpeff.Amino_Acid_Change=p.Ser218Phe/c.653C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380373;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380373:ENST00000380390;SAVANT_GENE=OR51A4:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A4:MMP26" target="_blank">OR51A4:MMP26</a>;SAVANT_INFO=-/1.0kb/1/1.0kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.653C>T_p.Ser218Phe:c.-41764G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A4:MMP26+c.653C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4967678">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,34:76:99:939,0,1235:127	0|0:98,0:98:99:0,294,3451:127	1|0:113,38:151:99:873,0,3605:127
11	4968198	.	C	A	26137.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=356;MQ=52.49;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3845246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3845246" target="_blank">rs3845246</a>;ExAC.Info.AC=107916;ExAC.Info.AN=126680;ExAC.Info.AF=0.852;ExAC.Info.AC_Het=15542;ExAC.Info.AC_Hom=46110;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-41100C>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.133C>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380373;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Tgc;snpeff.Amino_Acid_Change=p.Gly45Cys/c.133G>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380373;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380373:ENST00000380390;SAVANT_GENE=OR51A4:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A4:MMP26" target="_blank">OR51A4:MMP26</a>;SAVANT_INFO=-/1.0kb/1/1.0kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.133G>T_p.Gly45Cys:c.-41244C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A4:MMP26+c.133G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4968198">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:2854,267,0:127	1|1:0,123:123:99:4227,370,0:127	1|1:0,144:144:99:4614,432,0:127
11	4976077	.	T	G	378.59	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=399;MQ=66.53;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2570573;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2570573" target="_blank">rs2570573</a>;ExAC.Info.AC=22688;ExAC.Info.AN=109326;ExAC.Info.AF=0.208;ExAC.Info.AC_Het=3283;ExAC.Info.AC_Hom=3186;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-33221T>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867T>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaA/aaC;snpeff.Amino_Acid_Change=p.Lys289Asn/c.867A>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380371:ENST00000380390;SAVANT_GENE=OR51A2:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A2:MMP26" target="_blank">OR51A2:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.867A>C_p.Lys289Asn:c.-33365T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A2:MMP26+c.867A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4976077">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,367,4112:62	0|0:271,0:271:99:0,814,9046:62	0|1:0,6:6:0:215,18,0:62
11	4976086	.	C	T	32204.95	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=432;MQ=65.05;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2570572;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2570572" target="_blank">rs2570572</a>;ExAC.Info.AC=75970;ExAC.Info.AN=108144;ExAC.Info.AF=0.702;ExAC.Info.AC_Het=7028;ExAC.Info.AC_Hom=27449;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-33212C>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.858C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro286Pro/c.858G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380371:ENST00000380390;SAVANT_GENE=OR51A2:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A2:MMP26" target="_blank">OR51A2:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.858G>A_p.=:c.-33356C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A2:MMP26+c.858G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4976086">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4541,399,0:18	1|1:0,293:293:99:9787,880,0:18	1|1:0,6:6:18:260,18,0:18
11	4976145	.	C	G	1551.99	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=460;MQ=63.71;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56066301;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56066301" target="_blank">rs56066301</a>;ExAC.Info.AC=24114;ExAC.Info.AN=110258;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=4142;ExAC.Info.AC_Hom=4250;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-33153C>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799C>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Cgg;snpeff.Amino_Acid_Change=p.Gly267Arg/c.799G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380371:ENST00000380390;SAVANT_GENE=OR51A2:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A2:MMP26" target="_blank">OR51A2:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.799G>C_p.Gly267Arg:c.-33297C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A2:MMP26+c.799G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4976145">View</a>	GT:AD:DP:GQ:PL:TP	0|0:140,0:140:99:0,423,4774:11	0|0:297,0:297:99:0,893,10171:11	0|1:0,23:23:0:802,69,0:11
11	4976241	.	C	G	1212.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=583;MQ=62.09;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2570571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2570571" target="_blank">rs2570571</a>;ExAC.Info.AC=28192;ExAC.Info.AN=113840;ExAC.Info.AF=0.248;ExAC.Info.AC_Het=9132;ExAC.Info.AC_Hom=6413;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-33057C>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703C>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Cag;snpeff.Amino_Acid_Change=p.Glu235Gln/c.703G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380371:ENST00000380390;SAVANT_GENE=OR51A2:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A2:MMP26" target="_blank">OR51A2:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.703G>C_p.Glu235Gln:c.-33201C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A2:MMP26+c.703G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4976241">View</a>	GT:AD:DP:GQ:PL:TP	1|0:133,30:163:99:561,0,4344:127	0|0:292,17:309:99:0,337,9975:127	1|0:96,15:111:99:188,0,2850:127
11	4976291	.	G	A	9243.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=615;MQ=54.86;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55889636;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55889636" target="_blank">rs55889636</a>;ExAC.Info.AC=47681;ExAC.Info.AN=117508;ExAC.Info.AF=0.406;ExAC.Info.AC_Het=15661;ExAC.Info.AC_Hom=14993;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-33007G>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.653G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCt/tTt;snpeff.Amino_Acid_Change=p.Ser218Phe/c.653C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380371:ENST00000380390;SAVANT_GENE=OR51A2:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A2:MMP26" target="_blank">OR51A2:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.653C>T_p.Ser218Phe:c.-33151G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A2:MMP26+c.653C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4976291">View</a>	GT:AD:DP:GQ:PL:TP	1|0:164,47:211:99:836,0,4732:127	0|0:291,0:291:99:0,875,10197:127	1|1:0,113:113:99:3851,340,0:127
11	4976447	.	C	G	18514.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=647;MQ=51.53;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77497717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77497717" target="_blank">rs77497717</a>;ExAC.Info.AC=19670;ExAC.Info.AN=115276;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=5582;ExAC.Info.AC_Hom=6713;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-32851C>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497C>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497C>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGa/aCa;snpeff.Amino_Acid_Change=p.Arg166Thr/c.497G>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380371:ENST00000380390;SAVANT_GENE=OR51A2:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A2:MMP26" target="_blank">OR51A2:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.497G>C_p.Arg166Thr:c.-32995C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A2:MMP26+c.497G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4976447">View</a>	GT:AD:DP:GQ:PL:TP	1|0:96,129:225:99:3607,0,2507:127	0|0:267,0:267:99:0,801,8540:127	1|1:7,148:155:99:4720,150,0:127
11	4976554	.	A	G	6681.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=267;MQ=63.52;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2595986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2595986" target="_blank">rs2595986</a>;ExAC.Info.AC=45853;ExAC.Info.AN=104686;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=7762;ExAC.Info.AC_Hom=15799;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-32744A>G;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.390A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.390A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn130Asn/c.390T>C;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380371:ENST00000380390;SAVANT_GENE=OR51A2:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A2:MMP26" target="_blank">OR51A2:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.390T>C_p.=:c.-32888A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A2:MMP26+c.390T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4976554">View</a>	GT:AD:DP:GQ:PL:TP	0|1:88,22:110:99:514,0,2548:127	1|1:1,65:66:99:2584,162,0:127	0|0:91,0:91:99:0,274,3208:127
11	4976768	.	C	T	4926.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=303;MQ=61.21;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs112749434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112749434" target="_blank">rs112749434</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=49139;ExAC.Info.AN=123748;ExAC.Info.AF=0.397;ExAC.Info.AC_Het=10068;ExAC.Info.AC_Hom=11070;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-32530C>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176C>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gAg;snpeff.Amino_Acid_Change=p.Gly59Glu/c.176G>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380371:ENST00000380390;SAVANT_GENE=OR51A2:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A2:MMP26" target="_blank">OR51A2:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.176G>A_p.Gly59Glu:c.-32674C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A2:MMP26+c.176G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4976768">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,34:96:99:939,0,1934:101	0|0:173,0:173:99:0,518,5947:101	1|1:0,34:34:99:1291,102,0:101
11	4976811	.	C	A	19344.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=235;MQ=57.91;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28482315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28482315" target="_blank">rs28482315</a>;ExAC.Info.AC=105159;ExAC.Info.AN=126098;ExAC.Info.AF=0.834;ExAC.Info.AC_Het=14373;ExAC.Info.AC_Hom=42926;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-144-32487C>A;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.133C>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Tgc;snpeff.Amino_Acid_Change=p.Gly45Cys/c.133G>T;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR51A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380371;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380371:ENST00000380390;SAVANT_GENE=OR51A2:MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A2:MMP26" target="_blank">OR51A2:MMP26</a>;SAVANT_INFO=-/0.9kb/1/0.9kb:+/225.2kb/7/1.2kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.133G>T_p.Gly45Cys:c.-32631C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51A2:MMP26+c.133G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:4976811">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2185,189,0:123	1|1:0,131:131:99:4496,394,0:123	1|1:0,41:41:99:1608,123,0:123
11	5009549	.	A	C	22210.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=556;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs72860827;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72860827" target="_blank">rs72860827</a>;ExAC.Info.AC=2721;ExAC.Info.AN=126704;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2619;ExAC.Info.AC_Hom=51;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.99+9A>C;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390;SAVANT_GENE=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;SAVANT_INFO=+/225.2kb/7/1.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.99+9A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26+c.99+9A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5009549">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,91:170:99:2604,0,2048:127	1|1:1,215:216:99:7419,638,0:127	0|0:170,0:170:99:0,510,5429:127
11	5012592	.	C	T	12161.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs61880629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61880629" target="_blank">rs61880629</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=30751;ExAC.Info.AN=126688;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=22506;ExAC.Info.AC_Hom=4075;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.470-9C>T;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380390;SAVANT_GENE=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;SAVANT_INFO=+/225.2kb/7/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.470-9C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26+c.470-9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5012592">View</a>	GT:AD:DP:GQ:PL:TP	0|1:47,42:89:99:1049,0,1373:127	1|1:0,114:114:99:4023,343,0:127	0|0:123,0:123:99:0,369,4160:127
11	5013421	.	G	GT	6975.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs5789346;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5789346" target="_blank">rs5789346</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.758-22_758-21insT;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000380390;SAVANT_GENE=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;SAVANT_INFO=+/225.2kb/7/1.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.758-13dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26+c.758-13dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5013421">View</a>	GT:AD:DP:GQ:PL:TP	0|1:44,34:78:99:676,0,1445:127	1|1:2,82:84:99:2116,193,0:127	0|1:55,28:83:99:488,0,1792:127
11	5013423	.	T	TG	6317.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs60905583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60905583" target="_blank">rs60905583</a>;ExAC.Info.AC=34941;ExAC.Info.AN=126022;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=23953;ExAC.Info.AC_Hom=5043;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.758-20_758-19insG;snpeff.Amino_Acid_length=261;snpeff.Gene_Name=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380390;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000380390;SAVANT_GENE=MMP26;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MMP26" target="_blank">MMP26</a>;SAVANT_INFO=+/225.2kb/7/1.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.758-21_758-20insG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MMP26+c.758-21_758-20insG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5013423">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,36:86:99:1094,0,1452:127	0|0:105,0:105:99:0,316,3636:127	1|0:33,46:79:99:1416,0,849:127
11	5020189	.	C	T	3915.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11035064;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11035064" target="_blank">rs11035064</a>;ExAC.Info.AC=32997;ExAC.Info.AN=126618;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=23170;ExAC.Info.AC_Hom=4693;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11035064" target="_blank">rs11035064</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5020189">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,30:68:99:757,0,1150:127	0|0:107,0:107:99:0,322,3858:127	1|0:35,35:70:99:941,0,1096:127
11	5020416	.	A	G	25066.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2445290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2445290" target="_blank">rs2445290</a>;ExAC.Info.AC=105632;ExAC.Info.AN=126702;ExAC.Info.AF=0.834;ExAC.Info.AC_Het=17196;ExAC.Info.AC_Hom=44192;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.204A>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321543;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttA/ttG;snpeff.Amino_Acid_Change=p.Leu68Leu/c.204A>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321543;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321543;SAVANT_GENE=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.204A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51L1+c.204A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5020416">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:3364,274,0:127	1|1:0,106:106:99:3930,318,0:127	1|1:0,95:95:99:3446,286,0:127
11	5020509	.	C	T	7108.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11035066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11035066" target="_blank">rs11035066</a>;ExAC.Info.AC=33140;ExAC.Info.AN=126704;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=23587;ExAC.Info.AC_Hom=4775;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321543;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.297C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321543;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys99Cys/c.297C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321543;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321543;SAVANT_GENE=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.297C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51L1+c.297C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5020509">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,52:102:99:1483,0,1558:127	0|0:123,0:123:99:0,370,4599:127	1|0:31,45:76:99:1344,0,977:127
11	5020799	.	C	T	10376.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=551;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10768448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10768448" target="_blank">rs10768448</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_receptor_function;hgmd_2014.2.PubMed=24316890;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24316890" target="_blank">24316890</a>;ExAC.Info.AC=33566;ExAC.Info.AN=126702;ExAC.Info.AF=0.265;ExAC.Info.AC_Het=23742;ExAC.Info.AC_Hom=4900;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.587C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321543;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aTc;snpeff.Amino_Acid_Change=p.Thr196Ile/c.587C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321543;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321543;SAVANT_GENE=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.587C>T_p.Thr196Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51L1+c.587C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5020799">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,72:154:99:1675,0,2315:127	0|0:225,0:225:99:0,676,8045:127	1|0:95,77:172:99:2195,0,2790:127
11	5020832	.	C	T	8360.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=483;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10768450;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10768450" target="_blank">rs10768450</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_receptor_function;hgmd_2014.2.PubMed=24316890;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=24316890" target="_blank">24316890</a>;ExAC.Info.AC=33133;ExAC.Info.AN=126704;ExAC.Info.AF=0.261;ExAC.Info.AC_Het=23580;ExAC.Info.AC_Hom=4763;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.620C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321543;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala207Val/c.620C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321543;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321543;SAVANT_GENE=OR51L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51L1" target="_blank">OR51L1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.620C>T_p.Ala207Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51L1+c.620C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5020832">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,53:133:99:1253,0,2375:127	0|0:207,0:207:99:0,622,7282:127	1|0:81,62:143:99:1685,0,2383:127
11	5067984	.	A	G	6864.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2500016;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2500016" target="_blank">rs2500016</a>;ExAC.Info.AC=62376;ExAC.Info.AN=126698;ExAC.Info.AF=0.492;ExAC.Info.AC_Het=30771;ExAC.Info.AC_Hom=15775;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.229A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr77Ala/c.229A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380370;SAVANT_GENE=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.229A>G_p.Thr77Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52J3+c.229A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5067984">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,34:64:99:1120,0,810:127	0|0:102,0:102:99:0,307,3400:127	1|1:0,49:49:99:1933,147,0:127
11	5068137	.	G	A	13158.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2500017;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2500017" target="_blank">rs2500017</a>;ExAC.Info.AC=62353;ExAC.Info.AN=126672;ExAC.Info.AF=0.492;ExAC.Info.AC_Het=30712;ExAC.Info.AC_Hom=15714;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val128Ile/c.382G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380370;SAVANT_GENE=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.382G>A_p.Val128Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52J3+c.382G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5068137">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,49:102:99:1389,0,1436:127	0|0:140,0:140:99:0,421,4752:127	1|1:0,117:117:99:4172,352,0:127
11	5068177	.	A	T	16143.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=465;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2500018;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2500018" target="_blank">rs2500018</a>;ExAC.Info.AC=62356;ExAC.Info.AN=126690;ExAC.Info.AF=0.492;ExAC.Info.AC_Het=30723;ExAC.Info.AC_Hom=15723;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.422A>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.422A>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cTa;snpeff.Amino_Acid_Change=p.Gln141Leu/c.422A>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380370;SAVANT_GENE=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.422A>T_p.Gln141Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52J3+c.422A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5068177">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,67:138:99:1837,0,2037:127	0|0:176,0:176:99:0,529,6130:127	1|1:0,151:151:99:5098,453,0:127
11	5068661	.	A	G	12928.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2500019;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2500019" target="_blank">rs2500019</a>;ExAC.Info.AC=62229;ExAC.Info.AN=126614;ExAC.Info.AF=0.491;ExAC.Info.AC_Het=30620;ExAC.Info.AC_Hom=15632;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.906A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu302Glu/c.906A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380370;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380370;SAVANT_GENE=OR52J3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52J3" target="_blank">OR52J3</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.906A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52J3+c.906A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5068661">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,53:127:99:1459,0,1967:127	0|0:158,0:158:99:0,475,5563:127	1|1:0,113:113:99:4265,339,0:127
11	5079946	.	C	T	17992.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2445332;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2445332" target="_blank">rs2445332</a>;ExAC.Info.AC=118328;ExAC.Info.AN=126452;ExAC.Info.AF=0.936;ExAC.Info.AC_Het=6895;ExAC.Info.AC_Hom=53083;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.912C>T;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val304Val/c.912G>A;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321522;SAVANT_GENE=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.912G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E2+c.912G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5079946">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2297,221,0:127	1|1:0,96:96:99:3128,288,0:127	1|1:0,58:58:99:1931,174,0:127
11	5080068	.	G	A	6802.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=186;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2500052;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2500052" target="_blank">rs2500052</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=62563;ExAC.Info.AN=126458;ExAC.Info.AF=0.495;ExAC.Info.AC_Het=29168;ExAC.Info.AC_Hom=15305;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.790G>A;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg264Cys/c.790C>T;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321522;SAVANT_GENE=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.790C>T_p.Arg264Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E2+c.790C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5080068">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,26:62:99:759,0,1189:127	0|0:65,0:65:99:0,196,2407:127	1|1:0,59:59:99:2199,177,0:127
11	5080181	.	A	G	3748.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=448;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72873928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72873928" target="_blank">rs72873928</a>;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.677A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTt/gCt;snpeff.Amino_Acid_Change=p.Val226Ala/c.677T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321522;SAVANT_GENE=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.677T>C_p.Val226Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E2+c.677T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5080181">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,400,4395:127	0|0:166,0:166:99:0,499,5428:127	0|1:82,67:149:99:1893,0,2324:127
11	5080234	.	T	C	9830.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=450;MQ=69.97;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2445333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2445333" target="_blank">rs2445333</a>;ExAC.Info.AC=35804;ExAC.Info.AN=126686;ExAC.Info.AF=0.283;ExAC.Info.AC_Het=24714;ExAC.Info.AC_Hom=5492;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.624T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu208Leu/c.624A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321522;SAVANT_GENE=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.624A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E2+c.624A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5080234">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,47:128:99:1269,0,2432:127	0|0:173,0:173:99:0,520,6098:127	1|0:70,79:149:99:2342,0,2006:127
11	5080337	.	T	C	4090.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=437;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61746343;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61746343" target="_blank">rs61746343</a>;ExAC.Info.AC=27374;ExAC.Info.AN=126664;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=20847;ExAC.Info.AC_Hom=3193;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.521T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.521T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His174Arg/c.521A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321522;SAVANT_GENE=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.521A>G_p.His174Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E2+c.521A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5080337">View</a>	GT:AD:DP:GQ:PL:TP	0|0:143,0:143:99:0,430,4850:127	0|0:176,0:176:99:0,529,6306:127	0|1:52,66:118:99:2064,0,1538:127
11	5080844	.	T	C	14110.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=336;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16909440;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16909440" target="_blank">rs16909440</a>;ExAC.Info.AC=41934;ExAC.Info.AN=126562;ExAC.Info.AF=0.331;ExAC.Info.AC_Het=26956;ExAC.Info.AC_Hom=7033;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.14T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[glycosylation_site:N-linked__GlcNAc..._];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.14T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn5Ser/c.14A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321522;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321522;SAVANT_GENE=OR52E2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E2" target="_blank">OR52E2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.14A>G_p.Asn5Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E2+c.14A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5080844">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,46:98:99:1370,0,1437:127	1|1:0,129:129:99:4608,387,0:127	0|0:109,0:109:99:0,327,3593:127
11	5141902	.	T	C	13450.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10837374;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10837374" target="_blank">rs10837374</a>;ExAC.Info.AC=86650;ExAC.Info.AN=120904;ExAC.Info.AF=0.717;ExAC.Info.AC_Het=22468;ExAC.Info.AC_Hom=30259;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR52A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A4" target="_blank">OR52A4</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A4" target="_blank">OR52A4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52A4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5141902">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2279,198,0:127	1|1:0,67:67:99:2500,201,0:127	1|0:30,34:64:99:949,0,789:127
11	5141980	.	A	G	21042.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=305;MQ=70.03;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4426129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4426129" target="_blank">rs4426129</a>;ExAC.Info.AC=89491;ExAC.Info.AN=126158;ExAC.Info.AF=0.709;ExAC.Info.AC_Het=23867;ExAC.Info.AC_Hom=30638;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR52A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A4" target="_blank">OR52A4</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A4" target="_blank">OR52A4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52A4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5141980">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3014,282,0:127	1|1:0,110:110:99:3862,331,0:127	1|0:50,51:101:99:1519,0,1449:127
11	5142134	.	C	T	11070.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=642;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11035760;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11035760" target="_blank">rs11035760</a>;ExAC.Info.AC=45835;ExAC.Info.AN=126398;ExAC.Info.AF=0.363;ExAC.Info.AC_Het=27402;ExAC.Info.AC_Hom=8310;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR52A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A4" target="_blank">OR52A4</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A4" target="_blank">OR52A4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52A4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5142134">View</a>	GT:AD:DP:GQ:PL:TP	1|0:92,77:169:99:2098,0,2555:127	0|0:284,0:284:99:0,853,10126:127	1|0:107,82:189:99:2384,0,3469:127
11	5142270	.	T	G	39617.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=599;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10837375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10837375" target="_blank">rs10837375</a>;ExAC.Info.AC=90379;ExAC.Info.AN=126674;ExAC.Info.AF=0.713;ExAC.Info.AC_Het=25240;ExAC.Info.AC_Hom=32431;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR52A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A4" target="_blank">OR52A4</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A4" target="_blank">OR52A4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52A4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5142270">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,190:190:99:6814,571,0:127	1|1:1,231:232:99:8351,687,0:127	1|0:91,86:177:99:2499,0,2634:127
11	5142549	.	T	C	12902.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=544;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7947334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7947334" target="_blank">rs7947334</a>;ExAC.Info.AC=46410;ExAC.Info.AN=126658;ExAC.Info.AF=0.366;ExAC.Info.AC_Het=28850;ExAC.Info.AC_Hom=8674;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.850A>G;snpeff.Gene_Name=OR52A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A4" target="_blank">OR52A4</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000498233;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A4" target="_blank">OR52A4</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52A4+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5142549">View</a>	GT:AD:DP:GQ:PL:TP	1|0:87,90:177:99:2653,0,2371:127	0|0:209,0:209:99:0,627,7025:127	1|0:71,87:158:99:2633,0,1992:127
11	5172786	.	A	G	33683.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10768611;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10768611" target="_blank">rs10768611</a>;ExAC.Info.AC=125603;ExAC.Info.AN=126704;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=993;ExAC.Info.AC_Hom=62300;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Ccc;snpeff.Amino_Acid_Change=p.Ser272Pro/c.814T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A1" target="_blank">OR52A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380367;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380367;SAVANT_GENE=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A1" target="_blank">OR52A1</a>;SAVANT_INFO=-/35.4kb/2/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.814T>C_p.Ser272Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52A1+c.814T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5172786">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3722,319,0:127	1|1:0,147:147:99:5468,442,0:127	1|1:0,129:129:99:4660,388,0:127
11	5199340	.	A	AATGCCC	29005.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=237;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs113029548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113029548" target="_blank">rs113029548</a>;ExAC.Info.AC=29024;ExAC.Info.AN=42580;ExAC.Info.AF=0.682;ExAC.Info.AC_Het=1026;ExAC.Info.AC_Hom=1334;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.551_552insGGGCAT;snpeff.Gene_Name=OR52Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52Z1" target="_blank">OR52Z1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000510471;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-322+8176_-322+8175insGGGCAT;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52Z1" target="_blank">OR52Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380367;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000380367;SAVANT_GENE=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A1" target="_blank">OR52A1</a>;SAVANT_INFO=-/35.4kb/2/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-25742_-25741insGGGCAT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52A1+c.-25742_-25741insGGGCAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5199340">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2574,174,0:127	1|1:0,105:105:99:4748,318,0:127	1|1:0,79:79:99:3706,252,0:127
11	5199645	.	T	C	46462.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=447;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6578560;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6578560" target="_blank">rs6578560</a>;ExAC.Info.AC=76010;ExAC.Info.AN=80402;ExAC.Info.AF=0.945;ExAC.Info.AC_Het=894;ExAC.Info.AC_Hom=6918;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.247A>G;snpeff.Gene_Name=OR52Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52Z1" target="_blank">OR52Z1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000510471;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-322+7871A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52Z1" target="_blank">OR52Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380367;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380367;SAVANT_GENE=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A1" target="_blank">OR52A1</a>;SAVANT_INFO=-/35.4kb/2/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26046A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52A1+c.-26046A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5199645">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,123:123:99:5502,376,0:127	1|1:0,163:163:99:7011,493,0:127	1|1:0,161:161:99:6952,487,0:127
11	5199660	.	T	C	42469.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6578561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6578561" target="_blank">rs6578561</a>;ExAC.Info.AC=75294;ExAC.Info.AN=79688;ExAC.Info.AF=0.945;ExAC.Info.AC_Het=801;ExAC.Info.AC_Hom=6929;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.232A>G;snpeff.Gene_Name=OR52Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52Z1" target="_blank">OR52Z1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000510471;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-322+7856A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52Z1" target="_blank">OR52Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380367;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380367;SAVANT_GENE=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A1" target="_blank">OR52A1</a>;SAVANT_INFO=-/35.4kb/2/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26061A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52A1+c.-26061A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5199660">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:5182,349,0:127	1|1:0,136:136:99:6465,436,0:127	1|1:0,133:133:99:6393,436,0:127
11	5199675	.	C	T	34982.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6578562;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6578562" target="_blank">rs6578562</a>;ExAC.Info.AC=60066;ExAC.Info.AN=85568;ExAC.Info.AF=0.702;ExAC.Info.AC_Het=3141;ExAC.Info.AC_Hom=4296;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.217G>A;snpeff.Gene_Name=OR52Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52Z1" target="_blank">OR52Z1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000510471;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-322+7841G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52Z1" target="_blank">OR52Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380367;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380367;SAVANT_GENE=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A1" target="_blank">OR52A1</a>;SAVANT_INFO=-/35.4kb/2/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26076G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52A1+c.-26076G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5199675">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:4010,271,0:127	1|1:0,112:112:99:5106,346,0:127	1|1:0,124:124:99:5542,382,0:127
11	5199708	.	T	A	21663.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6578563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6578563" target="_blank">rs6578563</a>;ExAC.Info.AC=63890;ExAC.Info.AN=89164;ExAC.Info.AF=0.717;ExAC.Info.AC_Het=3377;ExAC.Info.AC_Hom=5329;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.184A>T;snpeff.Gene_Name=OR52Z1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52Z1" target="_blank">OR52Z1</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000510471;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-322+7808A>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52Z1" target="_blank">OR52Z1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380367;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380367;SAVANT_GENE=OR52A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52A1" target="_blank">OR52A1</a>;SAVANT_INFO=-/35.4kb/2/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26109A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52A1+c.-26109A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5199708">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2297,189,0:127	1|1:0,91:91:99:3454,274,0:127	1|1:0,99:99:99:3458,296,0:127
11	5221132	.	G	A	8527.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61736992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61736992" target="_blank">rs61736992</a>;ExAC.Info.AC=3275;ExAC.Info.AN=126700;ExAC.Info.AF=0.026;ExAC.Info.AC_Het=3123;ExAC.Info.AC_Hom=75;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.799G>A;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR51V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51V1" target="_blank">OR51V1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321255;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu267Phe/c.799C>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR51V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51V1" target="_blank">OR51V1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321255;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321255;SAVANT_GENE=OR51V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51V1" target="_blank">OR51V1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.799C>T_p.Leu267Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51V1+c.799C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5221132">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,46:98:99:1336,0,1474:127	0|0:135,1:136:99:0,369,4957:127	1|0:68,60:128:99:1768,0,2050:127
11	5221645	.	C	G	10042.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11512276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11512276" target="_blank">rs11512276</a>;ExAC.Info.AC=40482;ExAC.Info.AN=126702;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=39575;ExAC.Info.AC_Hom=11035;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.286C>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR51V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51V1" target="_blank">OR51V1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321255;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Cgg;snpeff.Amino_Acid_Change=p.Gly96Arg/c.286G>C;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR51V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51V1" target="_blank">OR51V1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321255;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321255;SAVANT_GENE=OR51V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51V1" target="_blank">OR51V1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.286G>C_p.Gly96Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51V1+c.286G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5221645">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,76:150:99:2292,0,2027:127	0|0:161,0:161:99:0,484,5642:127	1|0:61,68:129:99:2053,0,1917:127
11	5221825	.	G	A	4768.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11036212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11036212" target="_blank">rs11036212</a>;ExAC.Info.AC=91535;ExAC.Info.AN=126704;ExAC.Info.AF=0.722;ExAC.Info.AC_Het=23107;ExAC.Info.AC_Hom=34189;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106G>A;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR51V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51V1" target="_blank">OR51V1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321255;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Ttt;snpeff.Amino_Acid_Change=p.Leu36Phe/c.106C>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR51V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51V1" target="_blank">OR51V1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000321255;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321255;SAVANT_GENE=OR51V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51V1" target="_blank">OR51V1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.106C>T_p.Leu36Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51V1+c.106C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5221825">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,28:58:99:782,0,922:127	0|0:82,0:82:99:0,247,3099:127	1|0:37,35:72:99:966,0,1087:127
11	5247141	.	G	A	9751.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=549;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Sickle_cell_anemia|_603903_(3)|_Thalassemias|_beta-|_613985_(3)|_Erythremias|_beta-_(3)|_Methemoglobinemias|_beta-_(3)|_Heinz_body_anemias|_beta-|_140700_(3)|_Thalassemia-beta|_dominant_inclusion-body|_603902_(3)|_Hereditary_persistence_of_fetal_hemoglobin|_141749_(3)|_Delta-beta_thalassemia|_141749_(3)|_{Malaria|_resistance_to}|_611162_(3);dbSNP139.ID=rs1609812;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1609812" target="_blank">rs1609812</a>;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000029983;Clinvar.PhenotypeIDs=GeneReviews:NBK1426|MedGen:C0005283|OMIM:613985|Orphanet:ORPHA848|SNOMED_CT:65959000;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.316-185C>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB" target="_blank">HBB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335295;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316G>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB" target="_blank">HBB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335295;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316G>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB" target="_blank">HBB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335295;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335295;SAVANT_GENE=HBB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB" target="_blank">HBB</a>;SAVANT_INFO=-/1.7kb/3/0.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.316-185C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBB+c.316-185C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5247141">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000029983" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:76,80:156:99:2191,0,2336:127	0|0:207,3:210:99:0,617,7246:127	1|0:90,93:183:99:2578,0,2730:127
11	5247791	.	C	G	10653.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=443;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Sickle_cell_anemia|_603903_(3)|_Thalassemias|_beta-|_613985_(3)|_Erythremias|_beta-_(3)|_Methemoglobinemias|_beta-_(3)|_Heinz_body_anemias|_beta-|_140700_(3)|_Thalassemia-beta|_dominant_inclusion-body|_603902_(3)|_Hereditary_persistence_of_fetal_hemoglobin|_141749_(3)|_Delta-beta_thalassemia|_141749_(3)|_{Malaria|_resistance_to}|_611162_(3);dbSNP139.ID=rs10768683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10768683" target="_blank">rs10768683</a>;ExAC.Info.AC=97456;ExAC.Info.AN=126698;ExAC.Info.AF=0.769;ExAC.Info.AC_Het=20675;ExAC.Info.AC_Hom=38363;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.315+16G>C;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB" target="_blank">HBB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335295;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316C>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB" target="_blank">HBB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335295;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316C>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB" target="_blank">HBB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335295;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335295;SAVANT_GENE=HBB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB" target="_blank">HBB</a>;SAVANT_INFO=-/1.7kb/3/0.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.315+16G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBB+c.315+16G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5247791">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,68:139:99:2124,0,2132:127	0|0:164,0:164:99:0,492,5876:127	1|0:66,74:140:99:2256,0,1989:127
11	5248243	.	A	G	17311.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=760;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Sickle_cell_anemia|_603903_(3)|_Thalassemias|_beta-|_613985_(3)|_Erythremias|_beta-_(3)|_Methemoglobinemias|_beta-_(3)|_Heinz_body_anemias|_beta-|_140700_(3)|_Thalassemia-beta|_dominant_inclusion-body|_603902_(3)|_Hereditary_persistence_of_fetal_hemoglobin|_141749_(3)|_Delta-beta_thalassemia|_141749_(3)|_{Malaria|_resistance_to}|_611162_(3);dbSNP139.ID=rs713040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=713040" target="_blank">rs713040</a>;ExAC.Info.AC=97128;ExAC.Info.AN=126702;ExAC.Info.AF=0.767;ExAC.Info.AC_Het=20839;ExAC.Info.AC_Hom=38104;snpeff.Effect=sequence_feature[binding_site:2_3-bisphosphoglycerate];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.9A>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB" target="_blank">HBB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335295;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His3His/c.9T>C;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB" target="_blank">HBB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335295;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335295;SAVANT_GENE=HBB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB" target="_blank">HBB</a>;SAVANT_INFO=-/1.7kb/3/0.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.9T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBB+c.9T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5248243">View</a>	GT:AD:DP:GQ:PL:TP	1|0:128,134:262:99:4092,0,3443:127	0|0:294,0:294:99:0,884,10295:127	1|0:94,110:204:99:3450,0,2622:127
11	5269582	.	AG	A	12257.98	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=400;MQ=67.70;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Fetal_hemoglobin_quantitative_trait_locus_1|_141749_(3);dbSNP139.ID=rs371855998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371855998" target="_blank">rs371855998</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=6;snpeff.Amino_Acid_Change=c.*6delC;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG1" target="_blank">HBG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330597;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000330597;SAVANT_GENE=HBG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG1" target="_blank">HBG1</a>;SAVANT_INFO=-/1.8kb/3/0.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*6delC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG1+c.*6delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5269582">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,53:108:99:2125,0,2186:127	0|0:174,0:174:99:0,536,7963:127	1|0:63,55:118:99:2126,0,2500:127
11	5269584	.	T	A	12422.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=400;MQ=67.60;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Fetal_hemoglobin_quantitative_trait_locus_1|_141749_(3);dbSNP139.ID=rs1065686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1065686" target="_blank">rs1065686</a>;ExAC.Info.AC=78692;ExAC.Info.AN=125820;ExAC.Info.AF=0.625;ExAC.Info.AC_Het=41118;ExAC.Info.AC_Hom=18196;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=5;snpeff.Amino_Acid_Change=c.*5A>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG1" target="_blank">HBG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330597;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000330597;SAVANT_GENE=HBG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG1" target="_blank">HBG1</a>;SAVANT_INFO=-/1.8kb/3/0.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*5A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG1+c.*5A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5269584">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,54:110:99:2154,0,2226:127	0|0:173,0:173:99:0,542,8012:127	1|0:62,55:117:99:2173,0,2524:127
11	5269586	.	A	AG	12442.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=404;MQ=67.31;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Fetal_hemoglobin_quantitative_trait_locus_1|_141749_(3);dbSNP139.ID=rs371890964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371890964" target="_blank">rs371890964</a>;ExAC.Info.AC=78664;ExAC.Info.AN=125804;ExAC.Info.AF=0.625;ExAC.Info.AC_Het=41162;ExAC.Info.AC_Hom=18252;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2;snpeff.Amino_Acid_Change=c.*2_*3insC;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG1" target="_blank">HBG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000330597;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000330597;SAVANT_GENE=HBG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG1" target="_blank">HBG1</a>;SAVANT_INFO=-/1.8kb/3/0.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*2dupC;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG1+c.*2dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5269586">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,55:113:99:2154,0,2226:127	0|0:172,0:172:99:0,539,7976:127	1|0:64,55:119:99:2176,0,2491:127
11	5274452	.	G	GT	4982.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=233;MQ=68.76;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Fetal_hemoglobin_quantitative_trait_locus_1|_141749_(3)|_Cyanosis|_transient_neonatal|_613977_(3);dbSNP139.ID=rs34879481;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34879481" target="_blank">rs34879481</a>;ExAC.Info.AC=31611;ExAC.Info.AN=126610;ExAC.Info.AF=0.250;ExAC.Info.AC_Het=22969;ExAC.Info.AC_Hom=3449;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=54;snpeff.Amino_Acid_Change=c.*54_*55insA;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336906;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000380259;SAVANT_GENE=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;SAVANT_INFO=-/392.6kb/8/1.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*54_*55insA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2+c.*54_*55insA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5274452">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,36:61:99:1263,0,823:127	0|0:102,0:102:99:0,307,4098:127	1|0:45,25:70:99:799,0,1602:127
11	5322520	.	G	A	12322.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=642;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12283334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12283334" target="_blank">rs12283334</a>;ExAC.Info.AC=32182;ExAC.Info.AN=126694;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=23431;ExAC.Info.AC_Hom=4346;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-19339C>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.657G>A;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR51B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380224;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu219Leu/c.657C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR51B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380224;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380237:ENST00000380259:ENST00000380224;SAVANT_GENE=HBE1:HBG2:OR51B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBE1:HBG2:OR51B4" target="_blank">HBE1:HBG2:OR51B4</a>;SAVANT_INFO=-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb:-/1.0kb/1/1.0kb;SAVANT_LOC=5UTR:5UTR:Ex1;SAVANT_HGVS=c.-31400C>T:c.-46562C>T:c.657C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:5PU:SC;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBE1:HBG2:OR51B4+c.-31400C>T:c.-46562C>T:c.657C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5322520">View</a>	GT:AD:DP:GQ:PL:TP	1|0:98,76:174:99:2020,0,3162:127	0|0:255,1:256:99:0,732,9281:127	1|0:110,102:212:99:2938,0,3302:127
11	5323071	.	C	T	7260.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7118113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7118113" target="_blank">rs7118113</a>;ExAC.Info.AC=90289;ExAC.Info.AN=126702;ExAC.Info.AF=0.713;ExAC.Info.AC_Het=24597;ExAC.Info.AC_Hom=32793;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-19890G>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.106C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR51B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380224;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val36Ile/c.106G>A;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR51B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380224;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380237:ENST00000380259:ENST00000380224;SAVANT_GENE=HBE1:HBG2:OR51B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBE1:HBG2:OR51B4" target="_blank">HBE1:HBG2:OR51B4</a>;SAVANT_INFO=-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb:-/1.0kb/1/1.0kb;SAVANT_LOC=5UTR:5UTR:Ex1;SAVANT_HGVS=c.-31951G>A:c.-47113G>A:c.106G>A_p.Val36Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:5PU:NSC;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBE1:HBG2:OR51B4+c.-31951G>A:c.-47113G>A:c.106G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5323071">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,52:118:99:1338,0,2030:127	0|0:136,0:136:99:0,408,4779:127	1|0:51,58:109:99:1700,0,1480:127
11	5344681	.	G	A	9517.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11036815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11036815" target="_blank">rs11036815</a>;ExAC.Info.AC=34513;ExAC.Info.AN=126698;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=24818;ExAC.Info.AC_Hom=4830;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-41500C>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.847G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro283Ser/c.847C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328813:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51B2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51B2:HBE1:HBG2" target="_blank">OR51B2:HBE1:HBG2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.847C>T_p.Pro283Ser:c.-53561C>T:c.-68723C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51B2:HBE1:HBG2+c.847C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5344681">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,46:105:99:1178,0,1764:127	1|0:71,84:155:99:2391,0,1902:127	0|0:125,0:125:99:0,376,4442:127
11	5344772	.	T	C	39123.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=507;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10742622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10742622" target="_blank">rs10742622</a>;ExAC.Info.AC=106607;ExAC.Info.AN=126696;ExAC.Info.AF=0.841;ExAC.Info.AC_Het=15134;ExAC.Info.AC_Hom=45667;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-41591A>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.756T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr252Thr/c.756A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328813:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51B2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51B2:HBE1:HBG2" target="_blank">OR51B2:HBE1:HBG2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.756A>G_p.=:c.-53652A>G:c.-68814A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51B2:HBE1:HBG2+c.756A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5344772">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:5006,445,0:127	1|1:0,205:205:99:6864,615,0:127	1|1:0,154:154:99:5215,463,0:127
11	5344847	.	A	G	34628.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10768793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10768793" target="_blank">rs10768793</a>;ExAC.Info.AC=106583;ExAC.Info.AN=126686;ExAC.Info.AF=0.841;ExAC.Info.AC_Het=15121;ExAC.Info.AC_Hom=45597;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-41666T>C;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala227Ala/c.681T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328813:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51B2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51B2:HBE1:HBG2" target="_blank">OR51B2:HBE1:HBG2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.681T>C_p.=:c.-53727T>C:c.-68889T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51B2:HBE1:HBG2+c.681T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5344847">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,146:146:99:5047,438,0:127	1|1:1,173:174:99:6077,478,0:127	1|1:0,132:132:99:4651,397,0:127
11	5344902	.	C	G	31895.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7937237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7937237" target="_blank">rs7937237</a>;ExAC.Info.AC=106559;ExAC.Info.AN=126678;ExAC.Info.AF=0.841;ExAC.Info.AC_Het=15117;ExAC.Info.AC_Hom=45522;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-41721G>C;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.626C>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tCt;snpeff.Amino_Acid_Change=p.Cys209Ser/c.626G>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328813:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51B2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51B2:HBE1:HBG2" target="_blank">OR51B2:HBE1:HBG2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.626G>C_p.Cys209Ser:c.-53782G>C:c.-68944G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51B2:HBE1:HBG2+c.626G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5344902">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4826,373,0:127	1|1:0,141:141:99:5457,424,0:127	1|1:0,121:121:99:4556,364,0:127
11	5345128	.	G	A	22451.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=514;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10837814;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10837814" target="_blank">rs10837814</a>;ExAC.Info.AC=68939;ExAC.Info.AN=126694;ExAC.Info.AF=0.544;ExAC.Info.AC_Het=29867;ExAC.Info.AC_Hom=19473;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-41947C>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Ttc;snpeff.Amino_Acid_Change=p.Leu134Phe/c.400C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328813:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51B2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51B2:HBE1:HBG2" target="_blank">OR51B2:HBE1:HBG2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.400C>T_p.Leu134Phe:c.-54008C>T:c.-69170C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51B2:HBE1:HBG2+c.400C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5345128">View</a>	GT:AD:DP:GQ:PL:TP	1|0:99,69:168:99:1857,0,3159:127	0|1:83,102:185:99:2774,0,2565:127	1|1:0,161:161:99:5458,484,0:127
11	5345170	.	A	G	35599.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7952293;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7952293" target="_blank">rs7952293</a>;ExAC.Info.AC=106629;ExAC.Info.AN=126694;ExAC.Info.AF=0.842;ExAC.Info.AC_Het=15111;ExAC.Info.AC_Hom=45621;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-41989T>C;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys120Arg/c.358T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328813:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51B2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51B2:HBE1:HBG2" target="_blank">OR51B2:HBE1:HBG2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.358T>C_p.Cys120Arg:c.-54050T>C:c.-69212T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51B2:HBE1:HBG2+c.358T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5345170">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,151:151:99:5065,454,0:127	1|1:0,157:157:99:5553,471,0:127	1|1:0,137:137:99:4874,412,0:127
11	5345486	.	G	A	13116.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4910750;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4910750" target="_blank">rs4910750</a>;ExAC.Info.AC=106544;ExAC.Info.AN=126674;ExAC.Info.AF=0.841;ExAC.Info.AC_Het=15106;ExAC.Info.AC_Hom=45381;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-42305C>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.42G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly14Gly/c.42C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC10438928" target="_blank">AC10438928</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328813:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51B2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51B2:HBE1:HBG2" target="_blank">OR51B2:HBE1:HBG2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.42C>T_p.=:c.-54366C>T:c.-69528C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51B2:HBE1:HBG2+c.42C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5345486">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1576,150,0:125	1|1:0,64:64:99:2240,192,0:125	1|1:0,42:42:99:1470,126,0:125
11	5364742	.	C	T	10029.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11036913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11036913" target="_blank">rs11036913</a>;ExAC.Info.AC=48205;ExAC.Info.AN=125842;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=26529;ExAC.Info.AC_Hom=9159;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.339-2150G>A;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-61561G>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300773;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly5Ser/c.13G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51B5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300773;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380237:ENST00000380259:ENST00000300773;SAVANT_GENE=HBE1:HBG2:OR51B5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBE1:HBG2:OR51B5" target="_blank">HBE1:HBG2:OR51B5</a>;SAVANT_INFO=-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb:-/1.1kb/1/1.1kb;SAVANT_LOC=5UTR:5UTR:Ex1;SAVANT_HGVS=c.-73622G>A:c.-88784G>A:c.13G>A_p.Gly5Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:5PU:NSC;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBE1:HBG2:OR51B5+c.-73622G>A:c.-88784G>A:c.13G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5364742">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1293,111,0:87	1|1:0,58:58:99:2040,174,0:87	1|1:0,29:29:87:1054,87,0:87
11	5373713	.	A	T	27262.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs12802177;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12802177" target="_blank">rs12802177</a>;ExAC.Info.AC=40588;ExAC.Info.AN=125488;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=24365;ExAC.Info.AC_Hom=7004;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.85-5573T>A;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-70532T>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380237:ENST00000380259;SAVANT_GENE=HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBE1:HBG2" target="_blank">HBE1:HBG2</a>;SAVANT_INFO=-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR:5UTR;SAVANT_HGVS=c.-82593T>A:c.-97755T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBE1:HBG2+c.-82593T>A:c.-97755T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5373713">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3558,330,0:127	1|1:1,130:131:99:4625,384,0:127	1|1:0,117:117:99:4055,352,0:127
11	5410934	.	T	G	36012.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=389;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1498467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1498467" target="_blank">rs1498467</a>;ExAC.Info.AC=96262;ExAC.Info.AN=125214;ExAC.Info.AF=0.769;ExAC.Info.AC_Het=20832;ExAC.Info.AC_Hom=37565;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.85-42794A>C;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-107753A>C;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caT/caG;snpeff.Amino_Acid_Change=p.His102Gln/c.306T>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR51M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328611;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328611:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51M1:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51M1:HBE1:HBG2" target="_blank">OR51M1:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.306T>G_p.His102Gln:c.-119814A>C:c.-134976A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51M1:HBE1:HBG2+c.306T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5410934">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:4312,340,0:127	1|1:0,164:164:99:6340,493,0:127	1|1:0,112:112:99:4305,336,0:127
11	5411031	.	C	T	24388.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1498468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1498468" target="_blank">rs1498468</a>;ExAC.Info.AC=96691;ExAC.Info.AN=125778;ExAC.Info.AF=0.769;ExAC.Info.AC_Het=20850;ExAC.Info.AC_Hom=37588;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.85-42891G>A;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-107850G>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Ttt;snpeff.Amino_Acid_Change=p.Leu135Phe/c.403C>T;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR51M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328611;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328611:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51M1:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51M1:HBE1:HBG2" target="_blank">OR51M1:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.403C>T_p.Leu135Phe:c.-119911G>A:c.-135073G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51M1:HBE1:HBG2+c.403C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5411031">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2779,252,0:127	1|1:0,114:114:99:3968,343,0:127	1|1:0,85:85:99:2934,255,0:127
11	5411239	.	T	C	23287.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=256;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1498469;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1498469" target="_blank">rs1498469</a>;ExAC.Info.AC=96650;ExAC.Info.AN=125020;ExAC.Info.AF=0.773;ExAC.Info.AC_Het=20547;ExAC.Info.AC_Hom=37975;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.85-43099A>G;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-108058A>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile204Thr/c.611T>C;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR51M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328611;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328611:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51M1:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51M1:HBE1:HBG2" target="_blank">OR51M1:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.611T>C_p.Ile204Thr:c.-120119A>G:c.-135281A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51M1:HBE1:HBG2+c.611T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5411239">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,64:64:99:2348,192,0:127	1|1:0,117:117:99:4237,351,0:127	1|1:0,75:75:99:2850,226,0:127
11	5411395	.	C	A	22610.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9783355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9783355" target="_blank">rs9783355</a>;ExAC.Info.AC=96552;ExAC.Info.AN=125072;ExAC.Info.AF=0.772;ExAC.Info.AC_Het=20591;ExAC.Info.AC_Hom=37877;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.85-43255G>T;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-108214G>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cAt;snpeff.Amino_Acid_Change=p.Pro256His/c.767C>A;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR51M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328611;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328611:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51M1:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51M1:HBE1:HBG2" target="_blank">OR51M1:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.767C>A_p.Pro256His:c.-120275G>T:c.-135437G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51M1:HBE1:HBG2+c.767C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5411395">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2883,241,0:127	1|1:0,103:103:99:3757,310,0:127	1|1:0,87:87:99:3158,262,0:127
11	5411579	.	G	A	20744.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10768906;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10768906" target="_blank">rs10768906</a>;ExAC.Info.AC=94753;ExAC.Info.AN=124624;ExAC.Info.AF=0.760;ExAC.Info.AC_Het=19646;ExAC.Info.AC_Hom=33336;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.85-43439C>T;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-108398C>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys317Lys/c.951G>A;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR51M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328611;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328611:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51M1:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51M1:HBE1:HBG2" target="_blank">OR51M1:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.951G>A_p.=:c.-120459C>T:c.-135621C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51M1:HBE1:HBG2+c.951G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5411579">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:2319,156,0:127	1|1:2,79:81:99:3425,154,0:127	1|1:0,65:65:99:2909,196,0:127
11	5411580	.	T	C	21273.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10768907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10768907" target="_blank">rs10768907</a>;ExAC.Info.AC=94752;ExAC.Info.AN=124614;ExAC.Info.AF=0.760;ExAC.Info.AC_Het=19583;ExAC.Info.AC_Hom=33192;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.85-43440A>G;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-309-108399A>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe318Leu/c.952T>C;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR51M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328611;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328611:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51M1:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51M1:HBE1:HBG2" target="_blank">OR51M1:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.952T>C_p.Phe318Leu:c.-120460A>G:c.-135622A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51M1:HBE1:HBG2+c.952T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5411580">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:2340,157,0:127	1|1:0,80:80:99:3635,244,0:127	1|1:0,65:65:99:2918,196,0:127
11	5451875	.	G	A	20309.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1498474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1498474" target="_blank">rs1498474</a>;ExAC.Info.AC=5604;ExAC.Info.AN=20574;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=2853;ExAC.Info.AC_Hom=841;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+74924C>T;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+74924C>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380237:ENST00000380259;SAVANT_GENE=HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBE1:HBG2" target="_blank">HBE1:HBG2</a>;SAVANT_INFO=-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR:5UTR;SAVANT_HGVS=c.-160755C>T:c.-175917C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBE1:HBG2+c.-160755C>T:c.-175917C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5451875">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2798,253,0:127	1|1:0,100:100:99:3315,301,0:127	1|1:0,76:76:99:2683,229,0:127
11	5461991	.	C	A	29183.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1498486;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1498486" target="_blank">rs1498486</a>;ExAC.Info.AC=58556;ExAC.Info.AN=126678;ExAC.Info.AF=0.462;ExAC.Info.AC_Het=28332;ExAC.Info.AC_Hom=15054;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+64808G>T;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+64808G>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.754C>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR51I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380211;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Tcc;snpeff.Amino_Acid_Change=p.Ala252Ser/c.754G>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR51I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380211;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380237:ENST00000380211:ENST00000380259;SAVANT_GENE=HBE1:OR51I1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBE1:OR51I1:HBG2" target="_blank">HBE1:OR51I1:HBG2</a>;SAVANT_INFO=-/237.3kb/5/0.9kb:-/0.9kb/1/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR:Ex1:5UTR;SAVANT_HGVS=c.-170871G>T:c.754G>T_p.Ala252Ser:c.-186033G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:NSC:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBE1:OR51I1:HBG2+c.-170871G>T:c.754G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5461991">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,110:110:99:3696,331,0:127	1|1:0,137:137:99:4930,412,0:127	1|1:0,112:112:99:4049,337,0:127
11	5474838	.	G	T	20477.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2030094;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2030094" target="_blank">rs2030094</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=56846;ExAC.Info.AN=126704;ExAC.Info.AF=0.449;ExAC.Info.AC_Het=30131;ExAC.Info.AC_Hom=13290;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+51961C>A;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+51961C>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.120G>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggT;snpeff.Amino_Acid_Change=p.Gly40Gly/c.120G>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341449:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51I2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51I2:HBE1:HBG2" target="_blank">OR51I2:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.120G>T_p.=:c.-183718C>A:c.-198880C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51I2:HBE1:HBG2+c.120G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5474838">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2504,216,0:127	1|1:1,98:99:99:3424,287,0:127	1|1:1,60:61:99:2148,173,0:127
11	5475170	.	G	C	10032.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=361;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs16931292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16931292" target="_blank">rs16931292</a>;ExAC.Info.AC=14969;ExAC.Info.AN=126704;ExAC.Info.AF=0.118;ExAC.Info.AC_Het=12979;ExAC.Info.AC_Hom=1039;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+51629C>G;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+51629C>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.452G>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cCa;snpeff.Amino_Acid_Change=p.Arg151Pro/c.452G>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341449:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51I2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51I2:HBE1:HBG2" target="_blank">OR51I2:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.452G>C_p.Arg151Pro:c.-184050C>G:c.-199212C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51I2:HBE1:HBG2+c.452G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5475170">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,50:102:99:1547,0,1654:127	1|0:78,75:153:99:2499,0,2432:127	0|0:106,0:106:99:0,319,3976:127
11	5475431	.	T	TCA	27414.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=473;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs35301588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35301588" target="_blank">rs35301588</a>;ExAC.Info.AC=37631;ExAC.Info.AN=126700;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=24214;ExAC.Info.AC_Hom=6703;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+51368_84+51367insTG;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+51368_-310+51367insTG;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.714_715insCA;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=ctc/ctCAc;snpeff.Amino_Acid_Change=p.Leu238_Asn239fs/c.714_715insCA;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(OR51I2|ENSG00000187918|1|1.00);TYPE=Insertion;SAVANT_ENST=ENST00000341449:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51I2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51I2:HBE1:HBG2" target="_blank">OR51I2:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.714_715dupCA:c.-184313_-184312dupTG:c.-199475_-199474dupTG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=FC:5PU:5PU;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51I2:HBE1:HBG2+c.714_715dupCA:c.-184313_-184312dupTG:c.-199475_-199474dupTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5475431">View</a>	GT:AD:DP:GQ:PL:TP	1|0:78,67:145:99:2519,0,3025:127	0|1:89,108:197:99:4199,0,3360:127	1|1:0,131:131:99:5808,394,0:127
11	5475505	.	C	T	8338.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75620804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75620804" target="_blank">rs75620804</a>;ExAC.Info.AC=2278;ExAC.Info.AN=126704;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2230;ExAC.Info.AC_Hom=24;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+51294G>A;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+51294G>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.787C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg263Cys/c.787C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341449:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51I2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51I2:HBE1:HBG2" target="_blank">OR51I2:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.787C>T_p.Arg263Cys:c.-184385G>A:c.-199547G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51I2:HBE1:HBG2+c.787C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5475505">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,1:108:99:0,295,4441:127	0|1:68,66:134:99:2181,0,2610:127	0|1:28,58:86:99:2008,0,715:127
11	5475506	.	G	A	9038.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11037502;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11037502" target="_blank">rs11037502</a>;ExAC.Info.AC=15945;ExAC.Info.AN=126704;ExAC.Info.AF=0.126;ExAC.Info.AC_Het=13697;ExAC.Info.AC_Hom=1122;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+51293C>T;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+51293C>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.788G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg263His/c.788G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341449:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51I2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51I2:HBE1:HBG2" target="_blank">OR51I2:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.788G>A_p.Arg263His:c.-184386C>T:c.-199548C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51I2:HBE1:HBG2+c.788G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5475506">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,61:109:99:1882,0,1477:127	1|0:65,67:132:99:2042,0,2567:127	0|0:85,0:85:99:0,258,3618:127
11	5475597	.	C	T	18497.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=489;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11037503;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11037503" target="_blank">rs11037503</a>;ExAC.Info.AC=37679;ExAC.Info.AN=126694;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=24231;ExAC.Info.AC_Hom=6685;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+51202G>A;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+51202G>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser293Ser/c.879C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR51I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341449;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341449:ENST00000380237:ENST00000380259;SAVANT_GENE=OR51I2:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51I2:HBE1:HBG2" target="_blank">OR51I2:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.879C>T_p.=:c.-184477G>A:c.-199639G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR51I2:HBE1:HBG2+c.879C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5475597">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,84:163:99:2166,0,2122:127	0|1:112,79:191:99:2018,0,3339:127	1|1:0,135:135:99:4443,403,0:127
11	5489889	.	T	C	4617.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.764A>G;snpeff.Gene_Name=OR51A10P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A10P" target="_blank">OR51A10P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000307165;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A10P" target="_blank">OR51A10P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+36910A>G;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A10P" target="_blank">OR51A10P</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+36910A>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR51A10P" target="_blank">OR51A10P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380237:ENST00000380259;SAVANT_GENE=HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBE1:HBG2" target="_blank">HBE1:HBG2</a>;SAVANT_INFO=-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR:5UTR;SAVANT_HGVS=c.-198769A>G:c.-213931A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBE1:HBG2+c.-198769A>G:c.-213931A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5489889">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,367,3974:127	0|1:69,74:143:99:2326,0,1952:127	0|0:114,0:114:99:0,342,3636:127
11	5510284	.	A	G	33105.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs417425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=417425" target="_blank">rs417425</a>;ExAC.Info.AC=122808;ExAC.Info.AN=126702;ExAC.Info.AF=0.969;ExAC.Info.AC_Het=3704;ExAC.Info.AC_Hom=59540;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+16515T>C;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+16515T>C;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.348A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.348A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser116Ser/c.348A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322641:ENST00000380237:ENST00000380259;SAVANT_GENE=OR52D1:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52D1:HBE1:HBG2" target="_blank">OR52D1:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.348A>G_p.=:c.-219164T>C:c.-234326T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52D1:HBE1:HBG2+c.348A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5510284">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:4036,346,0:127	1|1:0,174:174:99:6128,523,0:127	1|1:0,129:129:99:4444,388,0:127
11	5510341	.	C	T	38627.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=528;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs404280;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=404280" target="_blank">rs404280</a>;ExAC.Info.AC=74218;ExAC.Info.AN=126702;ExAC.Info.AF=0.586;ExAC.Info.AC_Het=29902;ExAC.Info.AC_Hom=22151;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+16458G>A;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+16458G>A;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.405C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr135Tyr/c.405C>T;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322641:ENST00000380237:ENST00000380259;SAVANT_GENE=OR52D1:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52D1:HBE1:HBG2" target="_blank">OR52D1:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.405C>T_p.=:c.-219221G>A:c.-234383G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52D1:HBE1:HBG2+c.405C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5510341">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,159:159:99:5086,478,0:127	1|1:0,217:217:99:6935,652,0:127	1|1:0,152:152:99:5030,457,0:127
11	5510497	.	T	C	26216.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2467219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2467219" target="_blank">rs2467219</a>;ExAC.Info.AC=122746;ExAC.Info.AN=126704;ExAC.Info.AF=0.969;ExAC.Info.AC_Het=3752;ExAC.Info.AC_Hom=59476;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+16302A>G;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+16302A>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.561T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile187Ile/c.561T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322641:ENST00000380237:ENST00000380259;SAVANT_GENE=OR52D1:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52D1:HBE1:HBG2" target="_blank">OR52D1:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.561T>C_p.=:c.-219377A>G:c.-234539A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52D1:HBE1:HBG2+c.561T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5510497">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,89:89:99:3044,267,0:127	1|1:0,120:120:99:4146,359,0:127	1|1:0,124:124:99:4368,373,0:127
11	5510626	.	T	C	26536.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=312;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs444878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=444878" target="_blank">rs444878</a>;ExAC.Info.AC=122746;ExAC.Info.AN=126704;ExAC.Info.AF=0.969;ExAC.Info.AC_Het=3751;ExAC.Info.AC_Hom=59488;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+16173A>G;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+16173A>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.690T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His230His/c.690T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322641:ENST00000380237:ENST00000380259;SAVANT_GENE=OR52D1:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52D1:HBE1:HBG2" target="_blank">OR52D1:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.690T>C_p.=:c.-219506A>G:c.-234668A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52D1:HBE1:HBG2+c.690T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5510626">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3350,294,0:127	1|1:0,111:111:99:4046,333,0:127	1|1:0,103:103:99:3877,310,0:127
11	5510688	.	T	C	8202.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7101919;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7101919" target="_blank">rs7101919</a>;ExAC.Info.AC=33192;ExAC.Info.AN=126700;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=23069;ExAC.Info.AC_Hom=5052;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.84+16111A>G;snpeff.Gene_Name=AC104389.28;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-310+16111A>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=HBE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380237;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.752T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile251Thr/c.752T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR52D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322641;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322641:ENST00000380237:ENST00000380259;SAVANT_GENE=OR52D1:HBE1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52D1:HBE1:HBG2" target="_blank">OR52D1:HBE1:HBG2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb:-/237.3kb/5/0.9kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR:5UTR;SAVANT_HGVS=c.752T>C_p.Ile251Thr:c.-219568A>G:c.-234730A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU:5PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52D1:HBE1:HBG2+c.752T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5510688">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,61:123:99:1762,0,1662:127	0|0:129,0:129:99:0,388,4430:127	1|0:57,56:113:99:1681,0,1616:127
11	5528918	.	C	T	3699.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2227271;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227271" target="_blank">rs2227271</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=38023;ExAC.Info.AN=126700;ExAC.Info.AF=0.300;ExAC.Info.AC_Het=24680;ExAC.Info.AC_Hom=6641;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1871C>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=UBQLN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311659;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UBA];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1871C>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=UBQLN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311659;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg624Gln/c.1871G>A;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=UBQLN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311659;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311659:ENST00000380259;SAVANT_GENE=UBQLN3:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBQLN3:HBG2" target="_blank">UBQLN3:HBG2</a>;SAVANT_INFO=-/2.7kb/2/2.4kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex2:5UTR;SAVANT_HGVS=c.1871G>A_p.Arg624Gln:c.-252960G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBQLN3:HBG2+c.1871G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5528918">View</a>	GT:AD:DP:GQ:PL:TP	1|0:22,26:48:99:786,0,683:127	0|0:77,0:77:99:0,232,2731:127	1|0:26,23:49:99:740,0,783:127
11	5529139	.	T	C	10432.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=424;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2234456;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234456" target="_blank">rs2234456</a>;ExAC.Info.AC=39876;ExAC.Info.AN=126690;ExAC.Info.AF=0.315;ExAC.Info.AC_Het=25055;ExAC.Info.AC_Hom=7273;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala550Ala/c.1650A>G;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=UBQLN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311659;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311659:ENST00000380259;SAVANT_GENE=UBQLN3:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBQLN3:HBG2" target="_blank">UBQLN3:HBG2</a>;SAVANT_INFO=-/2.7kb/2/2.4kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex2:5UTR;SAVANT_HGVS=c.1650A>G_p.=:c.-253181A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBQLN3:HBG2+c.1650A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5529139">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,71:138:99:1958,0,1777:127	0|0:154,1:155:99:0,430,5196:127	1|0:64,67:131:99:1990,0,1918:127
11	5529865	.	G	A	12623.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs186434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=186434" target="_blank">rs186434</a>;ExAC.Info.AC=126327;ExAC.Info.AN=126704;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=371;ExAC.Info.AC_Hom=62970;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser308Ser/c.924C>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=UBQLN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311659;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311659:ENST00000380259;SAVANT_GENE=UBQLN3:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBQLN3:HBG2" target="_blank">UBQLN3:HBG2</a>;SAVANT_INFO=-/2.7kb/2/2.4kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex2:5UTR;SAVANT_HGVS=c.924C>T_p.=:c.-253907C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBQLN3:HBG2+c.924C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5529865">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1191,108,0:127	1|1:0,55:55:99:1925,165,0:127	1|1:0,61:61:99:2007,183,0:127
11	5536415	.	C	T	4940.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10769023;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769023" target="_blank">rs10769023</a>;ExAC.Info.AC=38506;ExAC.Info.AN=126704;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=26114;ExAC.Info.AC_Hom=6195;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu419Glu/c.1257G>A;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380184;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259:ENST00000380184;SAVANT_GENE=HBG2:UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2:UBQLNL" target="_blank">HBG2:UBQLNL</a>;SAVANT_INFO=-/392.6kb/8/1.8kb:-/2.3kb/1/2.3kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-260457G>A:c.1257G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2:UBQLNL+c.-260457G>A:c.1257G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5536415">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,213,2622:127	0|1:47,50:97:99:1439,0,1410:127	0|1:33,39:72:99:1051,0,912:127
11	5536537	.	A	C	22080.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs393044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=393044" target="_blank">rs393044</a>;ExAC.Info.AC=125759;ExAC.Info.AN=126704;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=891;ExAC.Info.AC_Hom=62430;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Ggg;snpeff.Amino_Acid_Change=p.Trp379Gly/c.1135T>G;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380184;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259:ENST00000380184;SAVANT_GENE=HBG2:UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2:UBQLNL" target="_blank">HBG2:UBQLNL</a>;SAVANT_INFO=-/392.6kb/8/1.8kb:-/2.3kb/1/2.3kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-260579T>G:c.1135T>G_p.Trp379Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2:UBQLNL+c.-260579T>G:c.1135T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5536537">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3246,271,0:127	1|1:0,86:86:99:3242,259,0:127	1|1:0,91:91:99:3238,273,0:127
11	5536848	.	G	A	12309.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2017433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2017433" target="_blank">rs2017433</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=79132;ExAC.Info.AN=126702;ExAC.Info.AF=0.625;ExAC.Info.AC_Het=27814;ExAC.Info.AC_Hom=25617;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCt/gTt;snpeff.Amino_Acid_Change=p.Ala275Val/c.824C>T;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380184;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259:ENST00000380184;SAVANT_GENE=HBG2:UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2:UBQLNL" target="_blank">HBG2:UBQLNL</a>;SAVANT_INFO=-/392.6kb/8/1.8kb:-/2.3kb/1/2.3kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-260890C>T:c.824C>T_p.Ala275Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2:UBQLNL+c.-260890C>T:c.824C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5536848">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2160,183,0:127	1|0:57,34:91:99:944,0,2269:127	1|0:49,47:96:99:1427,0,1874:127
11	5536852	.	A	G	6664.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2017434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2017434" target="_blank">rs2017434</a>;ExAC.Info.AC=39694;ExAC.Info.AN=126702;ExAC.Info.AF=0.313;ExAC.Info.AC_Het=26604;ExAC.Info.AC_Hom=6528;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Cat;snpeff.Amino_Acid_Change=p.Tyr274His/c.820T>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380184;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259:ENST00000380184;SAVANT_GENE=HBG2:UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2:UBQLNL" target="_blank">HBG2:UBQLNL</a>;SAVANT_INFO=-/392.6kb/8/1.8kb:-/2.3kb/1/2.3kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-260894T>C:c.820T>C_p.Tyr274His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2:UBQLNL+c.-260894T>C:c.820T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5536852">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,199,2938:127	0|1:37,56:93:99:1884,0,1396:127	0|1:47,46:93:99:1468,0,1799:127
11	5537045	.	T	G	10886.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=616;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs872751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=872751" target="_blank">rs872751</a>;ExAC.Info.AC=39751;ExAC.Info.AN=126704;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=26576;ExAC.Info.AC_Hom=6570;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccC;snpeff.Amino_Acid_Change=p.Pro209Pro/c.627A>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380184;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259:ENST00000380184;SAVANT_GENE=HBG2:UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2:UBQLNL" target="_blank">HBG2:UBQLNL</a>;SAVANT_INFO=-/392.6kb/8/1.8kb:-/2.3kb/1/2.3kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-261087A>C:c.627A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2:UBQLNL+c.-261087A>C:c.627A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5537045">View</a>	GT:AD:DP:GQ:PL:TP	0|0:180,1:181:99:0,505,6260:127	0|1:137,115:252:99:3185,0,3969:127	0|1:100,83:183:99:2278,0,2905:127
11	5537161	.	A	G	5544.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2047456;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2047456" target="_blank">rs2047456</a>;ExAC.Info.AC=38973;ExAC.Info.AN=126698;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=26261;ExAC.Info.AC_Hom=6299;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys171Arg/c.511T>C;snpeff.Amino_Acid_length=475;snpeff.Gene_Name=UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380184;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259:ENST00000380184;SAVANT_GENE=HBG2:UBQLNL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2:UBQLNL" target="_blank">HBG2:UBQLNL</a>;SAVANT_INFO=-/392.6kb/8/1.8kb:-/2.3kb/1/2.3kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-261203T>C:c.511T>C_p.Cys171Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2:UBQLNL+c.-261203T>C:c.511T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5537161">View</a>	GT:AD:DP:GQ:PL:TP	0|0:89,0:89:99:0,268,3113:127	0|1:45,55:100:99:1696,0,1389:127	0|1:47,38:85:99:1096,0,1410:127
11	5549316	.	A	G	2438.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1846317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1846317" target="_blank">rs1846317</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.89T>C;snpeff.Gene_Name=OR52V1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52V1P" target="_blank">OR52V1P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000515557;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52V1P" target="_blank">OR52V1P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259;SAVANT_GENE=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;SAVANT_INFO=-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-273358T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2+c.-273358T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5549316">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1272:114	0|1:34,18:52:99:507,0,1065:114	0|1:33,25:58:99:732,0,920:114
11	5549531	.	T	C	1931.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1560811;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1560811" target="_blank">rs1560811</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259;SAVANT_GENE=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;SAVANT_INFO=-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-273573A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2+c.-273573A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5549531">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1383:123	0|1:28,21:49:99:568,0,734:123	0|1:17,17:34:99:417,0,454:123
11	5566030	.	A	G	20992.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=453;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1995158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1995158" target="_blank">rs1995158</a>;ExAC.Info.AC=105779;ExAC.Info.AN=126702;ExAC.Info.AF=0.835;ExAC.Info.AC_Het=16973;ExAC.Info.AC_Hom=44355;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.724A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys242Arg/c.724T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322653:ENST00000380259;SAVANT_GENE=OR52H1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H1:HBG2" target="_blank">OR52H1:HBG2</a>;SAVANT_INFO=-/1.1kb/1/1.1kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.724T>C_p.Cys242Arg:c.-290072T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52H1:HBG2+c.724T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5566030">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,84:157:99:2324,0,2087:127	0|1:77,93:170:99:2828,0,2337:127	1|1:0,126:126:99:4579,379,0:127
11	5566051	.	C	A	10060.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=507;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1995157;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1995157" target="_blank">rs1995157</a>;ExAC.Info.AC=64656;ExAC.Info.AN=126702;ExAC.Info.AF=0.510;ExAC.Info.AC_Het=28819;ExAC.Info.AC_Hom=17824;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.703C>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Tgc;snpeff.Amino_Acid_Change=p.Gly235Cys/c.703G>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322653:ENST00000380259;SAVANT_GENE=OR52H1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H1:HBG2" target="_blank">OR52H1:HBG2</a>;SAVANT_INFO=-/1.1kb/1/1.1kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.703G>T_p.Gly235Cys:c.-290093G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52H1:HBG2+c.703G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5566051">View</a>	GT:AD:DP:GQ:PL:TP	0|0:177,1:178:99:0,498,6230:127	0|1:85,95:180:99:2874,0,2728:127	0|1:80,69:149:99:2117,0,2475:127
11	5566112	.	C	T	14054.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=777;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1995156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1995156" target="_blank">rs1995156</a>;ExAC.Info.AC=64693;ExAC.Info.AN=126700;ExAC.Info.AF=0.511;ExAC.Info.AC_Het=28765;ExAC.Info.AC_Hom=17882;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr214Thr/c.642G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322653:ENST00000380259;SAVANT_GENE=OR52H1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H1:HBG2" target="_blank">OR52H1:HBG2</a>;SAVANT_INFO=-/1.1kb/1/1.1kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.642G>A_p.=:c.-290154G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52H1:HBG2+c.642G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5566112">View</a>	GT:AD:DP:GQ:PL:TP	0|0:260,0:260:99:0,781,9074:127	0|1:146,131:277:99:3897,0,4381:127	0|1:131,109:240:99:3188,0,3946:127
11	5566365	.	T	C	19305.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1566275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1566275" target="_blank">rs1566275</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Olfactory_receptor_deficiency;hgmd_2014.2.PubMed=12730696;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12730696" target="_blank">12730696</a>;ExAC.Info.AC=105705;ExAC.Info.AN=126704;ExAC.Info.AF=0.834;ExAC.Info.AC_Het=17037;ExAC.Info.AC_Hom=44297;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389T>C;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His130Arg/c.389A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322653:ENST00000380259;SAVANT_GENE=OR52H1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H1:HBG2" target="_blank">OR52H1:HBG2</a>;SAVANT_INFO=-/1.1kb/1/1.1kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.389A>G_p.His130Arg:c.-290407A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52H1:HBG2+c.389A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5566365">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,61:113:99:1752,0,1483:127	0|1:82,66:148:99:1904,0,2595:127	1|1:0,144:144:99:5177,433,0:127
11	5566489	.	C	T	6157.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10769054;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769054" target="_blank">rs10769054</a>;ExAC.Info.AC=64851;ExAC.Info.AN=126700;ExAC.Info.AF=0.512;ExAC.Info.AC_Het=28794;ExAC.Info.AC_Hom=18008;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.265C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala89Thr/c.265G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000322653;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000322653:ENST00000380259;SAVANT_GENE=OR52H1:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H1:HBG2" target="_blank">OR52H1:HBG2</a>;SAVANT_INFO=-/1.1kb/1/1.1kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.265G>A_p.Ala89Thr:c.-290531G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52H1:HBG2+c.265G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5566489">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,262,3270:127	0|1:55,55:110:99:1601,0,1754:127	0|1:50,56:106:99:1497,0,1628:127
11	5572966	.	A	G	8048.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs423501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=423501" target="_blank">rs423501</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.828T>C;snpeff.Gene_Name=OR52H2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000514607;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259;SAVANT_GENE=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;SAVANT_INFO=-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-297008T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2+c.-297008T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5572966">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,56:132:99:1593,0,2094:127	0|0:181,2:183:99:0,499,6044:127	1|0:72,49:121:99:1399,0,2123:127
11	5573002	.	C	A	11078.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=458;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs55690955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55690955" target="_blank">rs55690955</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.792G>T;snpeff.Gene_Name=OR52H2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000514607;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259;SAVANT_GENE=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;SAVANT_INFO=-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-297044G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2+c.-297044G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5573002">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,71:128:99:1873,0,2107:127	1|0:88,103:191:99:2897,0,2697:127	0|0:139,0:139:99:0,427,5297:127
11	5573024	.	A	G	10373.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs60009475;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60009475" target="_blank">rs60009475</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.770T>C;snpeff.Gene_Name=OR52H2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000514607;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259;SAVANT_GENE=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;SAVANT_INFO=-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-297066T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2+c.-297066T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5573024">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,55:122:99:2091,0,2664:127	0|0:194,0:194:99:0,605,8937:127	1|0:93,47:140:99:1665,0,3704:127
11	5573044	.	A	G	11733.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=461;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs9666981;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9666981" target="_blank">rs9666981</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.750T>C;snpeff.Gene_Name=OR52H2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000514607;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259;SAVANT_GENE=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;SAVANT_INFO=-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-297086T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2+c.-297086T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5573044">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,68:126:99:2830,0,2303:127	0|0:198,0:198:99:0,614,9160:127	1|0:90,47:137:99:1762,0,3889:127
11	5573054	.	A	G	11854.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=470;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs9666982;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9666982" target="_blank">rs9666982</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.740T>C;snpeff.Gene_Name=OR52H2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000514607;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259;SAVANT_GENE=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;SAVANT_INFO=-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-297096T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2+c.-297096T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5573054">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,70:131:99:2753,0,2393:127	0|0:197,0:197:99:0,614,9180:127	1|0:93,49:142:99:1769,0,3863:127
11	5573073	.	A	G	10882.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=462;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1694674;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1694674" target="_blank">rs1694674</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.721T>C;snpeff.Gene_Name=OR52H2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000514607;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52H2P" target="_blank">OR52H2P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380259;SAVANT_GENE=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;SAVANT_INFO=-/392.6kb/8/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-297115T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HBG2+c.-297115T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5573073">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,74:135:99:2804,0,2227:127	0|0:188,0:188:99:0,578,8291:127	1|0:93,46:139:99:1664,0,3582:127
11	5602438	.	T	A	14494.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2341432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2341432" target="_blank">rs2341432</a>;ExAC.Info.AC=72598;ExAC.Info.AN=126606;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=28061;ExAC.Info.AC_Hom=21992;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.258-8609A>T;snpeff.Gene_Name=AC015691.13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394793;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332T>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTc/cAc;snpeff.Amino_Acid_Change=p.Leu111His/c.332T>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345043:ENST00000380259;SAVANT_GENE=OR52B6:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B6:HBG2" target="_blank">OR52B6:HBG2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.332T>A_p.Leu111His:c.-326480A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52B6:HBG2+c.332T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5602438">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2806,252,0:127	1|0:44,51:95:99:1457,0,1227:127	1|0:49,47:96:99:1354,0,1517:127
11	5602615	.	A	G	25516.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=492;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2341434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2341434" target="_blank">rs2341434</a>;ExAC.Info.AC=72690;ExAC.Info.AN=126680;ExAC.Info.AF=0.574;ExAC.Info.AC_Het=28145;ExAC.Info.AC_Hom=22089;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.258-8786T>C;snpeff.Gene_Name=AC015691.13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394793;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His170Arg/c.509A>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345043:ENST00000380259;SAVANT_GENE=OR52B6:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B6:HBG2" target="_blank">OR52B6:HBG2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.509A>G_p.His170Arg:c.-326657T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52B6:HBG2+c.509A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5602615">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,149:149:99:5085,448,0:127	1|0:99,99:198:99:2636,0,2849:127	1|0:68,77:145:99:2224,0,2012:127
11	5602679	.	T	C	35962.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=635;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs892336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=892336" target="_blank">rs892336</a>;ExAC.Info.AC=72632;ExAC.Info.AN=126512;ExAC.Info.AF=0.574;ExAC.Info.AC_Het=28106;ExAC.Info.AC_Hom=22049;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.258-8850A>G;snpeff.Gene_Name=AC015691.13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394793;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573T>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573T>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn191Asn/c.573T>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345043:ENST00000380259;SAVANT_GENE=OR52B6:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B6:HBG2" target="_blank">OR52B6:HBG2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.573T>C_p.=:c.-326721A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52B6:HBG2+c.573T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5602679">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,200:200:99:7024,601,0:127	1|0:109,144:253:99:4380,0,2902:127	1|0:85,97:182:99:2881,0,2237:127
11	5602790	.	A	G	19734.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs2163946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2163946" target="_blank">rs2163946</a>;ExAC.Info.AC=72259;ExAC.Info.AN=126102;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=28002;ExAC.Info.AC_Hom=21842;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.258-8961T>C;snpeff.Gene_Name=AC015691.13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394793;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.684A>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu228Leu/c.684A>G;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345043:ENST00000380259;SAVANT_GENE=OR52B6:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B6:HBG2" target="_blank">OR52B6:HBG2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.684A>G_p.=:c.-326832T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52B6:HBG2+c.684A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5602790">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3596,303,0:127	1|0:74,76:150:99:2568,0,2321:127	1|0:58,53:111:99:1555,0,1802:127
11	5602928	.	G	C	16443.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=355;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10838375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10838375" target="_blank">rs10838375</a>;ExAC.Info.AC=71805;ExAC.Info.AN=125458;ExAC.Info.AF=0.572;ExAC.Info.AC_Het=28001;ExAC.Info.AC_Hom=21783;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.258-9099C>G;snpeff.Gene_Name=AC015691.13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394793;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.822G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcC;snpeff.Amino_Acid_Change=p.Ala274Ala/c.822G>C;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345043:ENST00000380259;SAVANT_GENE=OR52B6:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B6:HBG2" target="_blank">OR52B6:HBG2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.822G>C_p.=:c.-326970C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52B6:HBG2+c.822G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5602928">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2941,244,0:127	1|0:83,85:168:99:2357,0,2283:127	1|0:73,33:106:99:896,0,2218:127
11	5602968	.	G	A	18675.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10769086;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769086" target="_blank">rs10769086</a>;ExAC.Info.AC=101434;ExAC.Info.AN=125312;ExAC.Info.AF=0.809;ExAC.Info.AC_Het=18358;ExAC.Info.AC_Hom=41435;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.258-9139C>T;snpeff.Gene_Name=AC015691.13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394793;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.862G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val288Ile/c.862G>A;snpeff.Amino_Acid_length=335;snpeff.Gene_Name=OR52B6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000345043;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000345043:ENST00000380259;SAVANT_GENE=OR52B6:HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52B6:HBG2" target="_blank">OR52B6:HBG2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb:-/392.6kb/8/1.8kb;SAVANT_LOC=Ex1:5UTR;SAVANT_HGVS=c.862G>A_p.Val288Ile:c.-327010C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52B6:HBG2+c.862G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5602968">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2278,198,0:127	1|0:78,69:147:99:1968,0,2217:127	1|1:0,94:94:99:3387,283,0:127
11	5625847	.	A	G	6242.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3751006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3751006" target="_blank">rs3751006</a>;ExAC.Info.AC=82790;ExAC.Info.AN=126702;ExAC.Info.AF=0.653;ExAC.Info.AC_Het=27871;ExAC.Info.AC_Hom=27419;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.72-9267T>C;snpeff.Gene_Name=AC015691.13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394793;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys197Lys/c.591A>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys197Lys/c.591A>G;snpeff.Amino_Acid_length=842;snpeff.Gene_Name=TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354852;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380097:ENST00000337072:ENST00000380259:ENST00000354852;SAVANT_GENE=TRIM6:TRIM34:HBG2:TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM6:TRIM34:HBG2:TRIM6-TRIM34" target="_blank">TRIM6:TRIM34:HBG2:TRIM6-TRIM34</a>;SAVANT_INFO=+/16.3kb/8/3.4kb:+/47.3kb/14/3.0kb:-/392.6kb/8/1.8kb:+/47.7kb/14/3.4kb;SAVANT_LOC=Ex3:Ex3:5UTR:Ex3;SAVANT_HGVS=c.591A>G_p.=:c.591A>G_p.=:c.-349889T>C:c.591A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:SC:5PU:SC;SAVANT_ALTANN=None:None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM6:TRIM34:HBG2:TRIM6-TRIM34+c.591A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5625847">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,41:75:99:1272,0,915:127	0|0:96,0:96:99:0,289,3275:127	1|0:46,47:93:99:1316,0,1264:127
11	5626500	.	C	T	1605.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=59;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11038307;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11038307" target="_blank">rs11038307</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.604-67C>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.604-67C>T;snpeff.Amino_Acid_length=842;snpeff.Gene_Name=TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354852;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.72-9920G>A;snpeff.Gene_Name=AC015691.13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394793;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.604C>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.604C>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.604C>T;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380097:ENST00000337072:ENST00000380259:ENST00000354852;SAVANT_GENE=TRIM6:TRIM34:HBG2:TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM6:TRIM34:HBG2:TRIM6-TRIM34" target="_blank">TRIM6:TRIM34:HBG2:TRIM6-TRIM34</a>;SAVANT_INFO=+/16.3kb/8/3.4kb:+/47.3kb/14/3.0kb:-/392.6kb/8/1.8kb:+/47.7kb/14/3.4kb;SAVANT_LOC=In3/4:In3/4:5UTR:In3/4;SAVANT_HGVS=c.604-67C>T:c.604-67C>T:c.-350542G>A:c.604-67C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR:5PU:INTR;SAVANT_ALTANN=None:None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM6:TRIM34:HBG2:TRIM6-TRIM34+c.604-67C>T:c.604-67C>T:c.-350542G>A:c.604-67C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5626500">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,9:19:99:261,0,334:63	0|0:21,0:21:63:0,63,730:63	1|0:8,11:19:99:325,0,232:63
11	5631479	.	A	C	7526.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3740999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740999" target="_blank">rs3740999</a>;ExAC.Info.AC=47269;ExAC.Info.AN=126702;ExAC.Info.AF=0.373;ExAC.Info.AC_Het=26433;ExAC.Info.AC_Hom=10409;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.958+4A>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.958+4A>C;snpeff.Amino_Acid_length=842;snpeff.Gene_Name=TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354852;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.71+14577T>G;snpeff.Gene_Name=AC015691.13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394793;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.959A>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.959A>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.959A>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.959A>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.959A>C;snpeff.Amino_Acid_length=842;snpeff.Gene_Name=TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354852;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380097:ENST00000337072:ENST00000380259:ENST00000354852;SAVANT_GENE=TRIM6:TRIM34:HBG2:TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM6:TRIM34:HBG2:TRIM6-TRIM34" target="_blank">TRIM6:TRIM34:HBG2:TRIM6-TRIM34</a>;SAVANT_INFO=+/16.3kb/8/3.4kb:+/47.3kb/14/3.0kb:-/392.6kb/8/1.8kb:+/47.7kb/14/3.4kb;SAVANT_LOC=In6/7:In6/7:5UTR:In6/7;SAVANT_HGVS=c.958+4A>C:c.958+4A>C:c.-355521T>G:c.958+4A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS:SS:5PU:SS;SAVANT_ALTANN=None:None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM6:TRIM34:HBG2:TRIM6-TRIM34+c.958+4A>C:c.958+4A>C:c.-355521T>G:c.958+4A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5631479">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,51:112:99:1405,0,1610:127	1|0:61,58:119:99:1633,0,1580:127	0|0:130,0:130:99:0,391,4493:127
11	5632212	.	G	A	12593.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=334;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs10769124;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769124" target="_blank">rs10769124</a>;ExAC.Info.AC=96772;ExAC.Info.AN=126702;ExAC.Info.AF=0.764;ExAC.Info.AC_Het=21119;ExAC.Info.AC_Hom=37819;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.985+421G>A;snpeff.Amino_Acid_length=842;snpeff.Gene_Name=TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354852;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.71+13844C>T;snpeff.Gene_Name=AC015691.13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394793;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1191G>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1191G>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1191G>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu397Leu/c.1191G>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=TRIM6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000380097;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380097:ENST00000337072:ENST00000380259:ENST00000354852;SAVANT_GENE=TRIM6:TRIM34:HBG2:TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM6:TRIM34:HBG2:TRIM6-TRIM34" target="_blank">TRIM6:TRIM34:HBG2:TRIM6-TRIM34</a>;SAVANT_INFO=+/16.3kb/8/3.4kb:+/47.3kb/14/3.0kb:-/392.6kb/8/1.8kb:+/47.7kb/14/3.4kb;SAVANT_LOC=Ex8:In7/8:5UTR:In7/8;SAVANT_HGVS=c.1191G>A_p.=:c.985+421G>A:c.-356254C>T:c.985+421G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:INTR:5PU:INTR;SAVANT_ALTANN=None:None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM6:TRIM34:HBG2:TRIM6-TRIM34+c.1191G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5632212">View</a>	GT:AD:DP:GQ:PL:TP	1|0:43,38:81:99:1069,0,1396:127	0|0:119,0:119:99:0,358,4397:127	1|1:0,134:134:99:4543,401,0:127
11	5655150	.	T	A	25787.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7941976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7941976" target="_blank">rs7941976</a>;ExAC.Info.AC=112193;ExAC.Info.AN=126688;ExAC.Info.AF=0.886;ExAC.Info.AC_Het=12457;ExAC.Info.AC_Hom=49378;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.519+21T>A;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000429814;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1581+21T>A;snpeff.Amino_Acid_length=842;snpeff.Gene_Name=TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354852;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337072:ENST00000380259:ENST00000354852;SAVANT_GENE=TRIM34:HBG2:TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM34:HBG2:TRIM6-TRIM34" target="_blank">TRIM34:HBG2:TRIM6-TRIM34</a>;SAVANT_INFO=+/47.3kb/14/3.0kb:-/392.6kb/8/1.8kb:+/47.7kb/14/3.4kb;SAVANT_LOC=In9/10:5UTR:In9/10;SAVANT_HGVS=c.1581+21T>A:c.-379192A>T:c.1581+21T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:5PU:INTR;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM34:HBG2:TRIM6-TRIM34+c.1581+21T>A:c.-379192A>T:c.1581+21T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5655150">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:2883,273,0:127	1|1:0,121:121:99:3993,364,0:127	1|1:0,120:120:99:3858,360,0:127
11	5664355	.	A	ATATATTT	1066.19	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=41;MQ=72.89;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.902-18_902-17insTATATTT;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000429814;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1964-18_1964-17insTATATTT;snpeff.Amino_Acid_length=842;snpeff.Gene_Name=TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354852;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000337072:ENST00000380259:ENST00000354852;SAVANT_GENE=TRIM34:HBG2:TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM34:HBG2:TRIM6-TRIM34" target="_blank">TRIM34:HBG2:TRIM6-TRIM34</a>;SAVANT_INFO=+/47.3kb/14/3.0kb:-/392.6kb/8/1.8kb:+/47.7kb/14/3.4kb;SAVANT_LOC=In13/14:5UTR:In13/14;SAVANT_HGVS=c.1964-18_1964-17insATATTTT:c.-388398_-388397insAAATATA:c.1964-18_1964-17insATATTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:5PU:INTR;SAVANT_ALTANN=HGVSNotClass:HGVSNotClass:HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM34:HBG2:TRIM6-TRIM34+c.1964-18_1964-17insATATTTT:c.-388398_-388397insAAATATA:c.1964-18_1964-17insATATTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5664355">View</a>	GT:AD:DP:GQ:PL:TP	0|0:12,0:12:45:0,45,636:21	0|1:10,14:24:99:556,0,307:21	0|0:5,0:5:21:0,21,304:21
11	5664356	.	T	TATATATA	1290.27	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=46;MQ=72.52;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs59472811;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59472811" target="_blank">rs59472811</a>;ExAC.Info.AC=6165;ExAC.Info.AN=30800;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=1404;ExAC.Info.AC_Hom=48;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.902-17_902-16insATATATA;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000429814;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1964-17_1964-16insATATATA;snpeff.Amino_Acid_length=842;snpeff.Gene_Name=TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354852;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000337072:ENST00000380259:ENST00000354852;SAVANT_GENE=TRIM34:HBG2:TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM34:HBG2:TRIM6-TRIM34" target="_blank">TRIM34:HBG2:TRIM6-TRIM34</a>;SAVANT_INFO=+/47.3kb/14/3.0kb:-/392.6kb/8/1.8kb:+/47.7kb/14/3.4kb;SAVANT_LOC=In13/14:5UTR:In13/14;SAVANT_HGVS=c.1964-18_1964-17insATATATA:c.-388399_-388398insTATATAT:c.1964-18_1964-17insATATATA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:5PU:INTR;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM34:HBG2:TRIM6-TRIM34+c.1964-18_1964-17insATATATA:c.-388399_-388398insTATATAT:c.1964-18_1964-17insATATATA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5664356">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,10:11:15:375,15,0:14	1|0:22,7:29:99:167,0,804:14	1|1:0,6:6:21:195,21,0:14
11	5664974	.	T	C	39948.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=522;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7109861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7109861" target="_blank">rs7109861</a>;ExAC.Info.AC=116350;ExAC.Info.AN=125048;ExAC.Info.AF=0.930;ExAC.Info.AC_Het=6022;ExAC.Info.AC_Hom=50998;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=HBG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=35;snpeff.Amino_Acid_Change=c.*35T>C;snpeff.Amino_Acid_length=488;snpeff.Gene_Name=TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000429814;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=35;snpeff.Amino_Acid_Change=c.*35T>C;snpeff.Amino_Acid_length=842;snpeff.Gene_Name=TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBG2" target="_blank">HBG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354852;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337072:ENST00000380259:ENST00000354852;SAVANT_GENE=TRIM34:HBG2:TRIM6-TRIM34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM34:HBG2:TRIM6-TRIM34" target="_blank">TRIM34:HBG2:TRIM6-TRIM34</a>;SAVANT_INFO=+/47.3kb/14/3.0kb:-/392.6kb/8/1.8kb:+/47.7kb/14/3.4kb;SAVANT_LOC=3UTR:5UTR:3UTR;SAVANT_HGVS=c.*35T>C:c.-389016A>G:c.*35T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU:5PU:3PU;SAVANT_ALTANN=None:None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM34:HBG2:TRIM6-TRIM34+c.*35T>C:c.-389016A>G:c.*35T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5664974">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,149:149:99:4957,447,0:127	1|1:0,194:194:99:6516,583,0:127	1|1:0,179:179:99:5956,538,0:127
11	5700340	.	T	C	20951.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs3740995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740995" target="_blank">rs3740995</a>;ExAC.Info.AC=106304;ExAC.Info.AN=126704;ExAC.Info.AF=0.839;ExAC.Info.AC_Het=16738;ExAC.Info.AC_Hom=44783;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttA/ttG;snpeff.Amino_Acid_Change=p.Leu159Leu/c.477A>G;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305836;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380034;SAVANT_GENE=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;SAVANT_INFO=-/21.5kb/8/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.477A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM5+c.477A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5700340">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2382,204,0:127	1|1:0,80:80:99:2900,240,0:127	1|1:0,83:83:99:3060,250,0:127
11	5701074	.	C	A	1692.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|B|P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11601507;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11601507" target="_blank">rs11601507</a>;ExAC.Info.AC=11732;ExAC.Info.AN=126704;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=10258;ExAC.Info.AC_Hom=735;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Ttc;snpeff.Amino_Acid_Change=p.Val112Phe/c.334G>T;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380034;SAVANT_GENE=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;SAVANT_INFO=-/21.5kb/8/3.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.334G>T_p.Val112Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM5+c.334G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5701074">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2287:127	0|1:38,33:71:99:865,0,1254:127	0|0:65,0:65:99:0,195,2359:127
11	5701409	.	G	C	15185.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3824949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824949" target="_blank">rs3824949</a>;ExAC.Info.AC=64112;ExAC.Info.AN=126522;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=28691;ExAC.Info.AC_Hom=16463;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2;snpeff.Amino_Acid_Change=c.-2C>G;snpeff.Amino_Acid_length=493;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000380034;SAVANT_GENE=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;SAVANT_INFO=-/21.5kb/8/3.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-2C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM5+c.-2C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5701409">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,41:83:99:1257,0,1383:127	0|1:71,58:129:99:1715,0,2332:127	1|1:0,92:92:99:3503,277,0:127
11	5717762	.	T	C	10257.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=512;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10838543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10838543" target="_blank">rs10838543</a>;ExAC.Info.AC=57721;ExAC.Info.AN=126274;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=29746;ExAC.Info.AC_Hom=13891;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:B_box-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.300T>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His100His/c.300T>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379965;SAVANT_GENE=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;SAVANT_INFO=+/21.2kb/8/3.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.300T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM22+c.300T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5717762">View</a>	GT:AD:DP:GQ:PL:TP	0|1:76,95:171:99:2588,0,1976:127	1|0:99,71:170:99:1885,0,2796:127	0|0:171,0:171:99:0,513,5686:127
11	5718517	.	G	A	3882.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7935564;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7935564" target="_blank">rs7935564</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Rubella_vaccine-induced_immune_response|_association_with;hgmd_2014.2.OMIM_ID=606559;hgmd_2014.2.PubMed=19902255;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19902255" target="_blank">19902255</a>;ExAC.Info.AC=66242;ExAC.Info.AN=125714;ExAC.Info.AF=0.527;ExAC.Info.AC_Het=28766;ExAC.Info.AC_Hom=18085;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463G>A;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463G>A;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463G>A;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp155Asn/c.463G>A;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379965;SAVANT_GENE=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;SAVANT_INFO=+/21.2kb/8/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.463G>A_p.Asp155Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM22+c.463G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5718517">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,25:65:99:613,0,1069:127	1|0:40,27:67:99:715,0,1279:127	0|0:72,0:72:99:0,216,2407:127
11	5719667	.	T	C	1230.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2291842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291842" target="_blank">rs2291842</a>;ExAC.Info.AC=31442;ExAC.Info.AN=125538;ExAC.Info.AF=0.250;ExAC.Info.AC_Het=22807;ExAC.Info.AC_Hom=4274;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642T>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642T>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.642T>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp214Asp/c.642T>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379965;SAVANT_GENE=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;SAVANT_INFO=+/21.2kb/8/3.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.642T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM22+c.642T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5719667">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,966:89	0|0:49,0:49:99:0,147,1686:89	0|1:20,20:40:99:634,0,600:89
11	5719750	.	G	C	9361.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1063303;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1063303" target="_blank">rs1063303</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=63363;ExAC.Info.AN=125370;ExAC.Info.AF=0.505;ExAC.Info.AC_Het=29294;ExAC.Info.AC_Hom=16796;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.725G>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.725G>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.725G>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aCg;snpeff.Amino_Acid_Change=p.Arg242Thr/c.725G>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379965;SAVANT_GENE=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;SAVANT_INFO=+/21.2kb/8/3.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.725G>C_p.Arg242Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM22+c.725G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5719750">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1131,96,0:98	1|1:0,49:49:99:1670,147,0:98	1|1:0,33:33:99:1101,99,0:98
11	5719788	.	A	G	2229.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=72;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11038753;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11038753" target="_blank">rs11038753</a>;ExAC.Info.AC=16610;ExAC.Info.AN=125278;ExAC.Info.AF=0.133;ExAC.Info.AC_Het=13010;ExAC.Info.AC_Hom=1288;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.750+13A>G;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379965;SAVANT_GENE=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;SAVANT_INFO=+/21.2kb/8/3.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.750+13A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM22+c.750+13A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5719788">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,12:25:99:385,0,296:32	1|0:8,16:24:99:558,0,224:32	0|0:22,1:23:32:0,32,746:32
11	5729580	.	T	C	10582.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2291845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2291845" target="_blank">rs2291845</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.874+77T>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875T>C;snpeff.Amino_Acid_length=498;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379965;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379965;SAVANT_GENE=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;SAVANT_INFO=+/21.2kb/8/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.874+77T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM22+c.874+77T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5729580">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,42:79:99:1442,0,1069:127	0/1:61,48:109:99:1619,0,1869:127	0/1:49,55:104:99:1949,0,1461:127
11	5758062	.	T	C	39191.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=464;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7397032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7397032" target="_blank">rs7397032</a>;ExAC.Info.AC=103549;ExAC.Info.AN=126688;ExAC.Info.AF=0.817;ExAC.Info.AC_Het=18087;ExAC.Info.AC_Hom=42583;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316T>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR56B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316T>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR56B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys106Arg/c.316T>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR56B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317121;SAVANT_GENE=OR56B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR56B1" target="_blank">OR56B1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.316T>C_p.Cys106Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR56B1+c.316T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5758062">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4462,367,0:127	1|1:0,178:178:99:6501,534,0:127	1|1:0,164:164:99:5868,491,0:127
11	5758118	.	A	C	47471.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=575;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7396766;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7396766" target="_blank">rs7396766</a>;ExAC.Info.AC=115409;ExAC.Info.AN=126688;ExAC.Info.AF=0.911;ExAC.Info.AC_Het=9476;ExAC.Info.AC_Hom=52888;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372A>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR56B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.372A>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR56B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctC;snpeff.Amino_Acid_Change=p.Leu124Leu/c.372A>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR56B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM22" target="_blank">TRIM22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317121;SAVANT_GENE=OR56B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR56B1" target="_blank">OR56B1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.372A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR56B1+c.372A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5758118">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,172:172:99:6112,517,0:127	1|1:1,205:206:99:7003,581,0:127	1|1:0,197:197:99:7086,592,0:127
11	5758386	.	C	T	8054.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs62621167;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62621167" target="_blank">rs62621167</a>;ExAC.Info.AC=5685;ExAC.Info.AN=126694;ExAC.Info.AF=0.045;ExAC.Info.AC_Het=5327;ExAC.Info.AC_Hom=174;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.640C>T;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR56B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctt/Ttt;snpeff.Amino_Acid_Change=p.Leu214Phe/c.640C>T;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR56B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317121;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317121;SAVANT_GENE=OR56B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR56B1" target="_blank">OR56B1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.640C>T_p.Leu214Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR56B1+c.640C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5758386">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,48:103:99:1206,0,1732:127	1|0:69,69:138:99:2054,0,2195:127	0|0:101,0:101:99:0,303,3782:127
11	5776287	.	C	T	51731.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=889;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7936512;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7936512" target="_blank">rs7936512</a>;ExAC.Info.AC=119615;ExAC.Info.AN=126690;ExAC.Info.AF=0.944;ExAC.Info.AC_Het=6453;ExAC.Info.AC_Hom=56528;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.317C>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.317C>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aTc;snpeff.Amino_Acid_Change=p.Thr106Ile/c.317C>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317254;SAVANT_GENE=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N4" target="_blank">OR52N4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.317C>T_p.Thr106Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N4+c.317C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5776287">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,283:283:99:9125,850,0:127	1|0:171,166:337:99:4787,0,5169:127	1|1:0,269:269:99:9296,808,0:127
11	5776470	.	T	G	35694.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=558;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7394584;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7394584" target="_blank">rs7394584</a>;ExAC.Info.AC=118329;ExAC.Info.AN=126542;ExAC.Info.AF=0.935;ExAC.Info.AC_Het=7159;ExAC.Info.AC_Hom=55366;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500T>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.500T>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTc/cGc;snpeff.Amino_Acid_Change=p.Leu167Arg/c.500T>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317254;SAVANT_GENE=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N4" target="_blank">OR52N4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.500T>G_p.Leu167Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N4+c.500T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5776470">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,142:142:99:4920,425,0:127	1|0:109,112:221:99:3303,0,3002:127	1|1:0,195:195:99:7042,586,0:127
11	5776595	.	T	G	7798.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12363178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12363178" target="_blank">rs12363178</a>;ExAC.Info.AC=22744;ExAC.Info.AN=126526;ExAC.Info.AF=0.180;ExAC.Info.AC_Het=18328;ExAC.Info.AC_Hom=2159;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.625T>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Ggg;snpeff.Amino_Acid_Change=p.Trp209Gly/c.625T>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317254;SAVANT_GENE=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N4" target="_blank">OR52N4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.625T>G_p.Trp209Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N4+c.625T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5776595">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,59:117:99:1726,0,1549:127	0|0:151,0:151:99:0,454,5321:127	1|0:54,48:102:99:1397,0,1623:127
11	5776623	.	A	T	21865.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=349;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7396938;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7396938" target="_blank">rs7396938</a>;ExAC.Info.AC=118295;ExAC.Info.AN=126344;ExAC.Info.AF=0.936;ExAC.Info.AC_Het=7039;ExAC.Info.AC_Hom=55288;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.653A>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aTc;snpeff.Amino_Acid_Change=p.Asn218Ile/c.653A>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317254;SAVANT_GENE=OR52N4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N4" target="_blank">OR52N4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.653A>T_p.Asn218Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N4+c.653A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5776623">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:3888,354,0:127	1|0:60,71:131:99:2176,0,1811:127	1|1:0,100:100:99:3495,301,0:127
11	5799468	.	C	T	8517.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=402;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12360738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12360738" target="_blank">rs12360738</a>;ExAC.Info.AC=20428;ExAC.Info.AN=120702;ExAC.Info.AF=0.169;ExAC.Info.AC_Het=10193;ExAC.Info.AC_Hom=4964;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397C>T;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR52N5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317093;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397C>T;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR52N5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317093;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val133Ile/c.397G>A;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR52N5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317093;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317093;SAVANT_GENE=OR52N5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N5" target="_blank">OR52N5</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.397G>A_p.Val133Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N5+c.397G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5799468">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,72:131:99:1877,0,1645:127	0|0:163,0:163:99:0,490,6226:127	1|0:53,55:108:99:1645,0,1779:127
11	5809230	.	G	A	11548.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=543;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12794769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12794769" target="_blank">rs12794769</a>;ExAC.Info.AC=20592;ExAC.Info.AN=121282;ExAC.Info.AF=0.170;ExAC.Info.AC_Het=10133;ExAC.Info.AC_Hom=5135;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.817G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cta/Tta;snpeff.Amino_Acid_Change=p.Leu273Leu/c.817C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317078;SAVANT_GENE=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N1" target="_blank">OR52N1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.817C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N1+c.817C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5809230">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,79:148:99:2148,0,2134:127	0|0:211,0:211:99:0,634,7869:127	1|0:90,94:184:99:2666,0,2685:127
11	5809308	.	A	T	25315.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7934670;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7934670" target="_blank">rs7934670</a>;ExAC.Info.AC=119602;ExAC.Info.AN=126694;ExAC.Info.AF=0.944;ExAC.Info.AC_Het=6245;ExAC.Info.AC_Hom=56483;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.739A>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Atc;snpeff.Amino_Acid_Change=p.Phe247Ile/c.739T>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317078;SAVANT_GENE=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N1" target="_blank">OR52N1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.739T>A_p.Phe247Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N1+c.739T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5809308">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3470,310,0:127	1|0:95,86:181:99:2465,0,2901:127	1|1:0,123:123:99:4456,370,0:127
11	5809548	.	G	A	25990.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7948009;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7948009" target="_blank">rs7948009</a>;ExAC.Info.AC=79968;ExAC.Info.AN=126682;ExAC.Info.AF=0.631;ExAC.Info.AC_Het=27978;ExAC.Info.AC_Hom=25926;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.499G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg167Cys/c.499C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317078;SAVANT_GENE=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N1" target="_blank">OR52N1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.499C>T_p.Arg167Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N1+c.499C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5809548">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:3914,360,0:127	1|0:79,89:168:99:2547,0,2280:127	1|1:0,124:124:99:4458,373,0:127
11	5809811	.	G	T	12265.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=574;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12365487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12365487" target="_blank">rs12365487</a>;ExAC.Info.AC=16583;ExAC.Info.AN=126696;ExAC.Info.AF=0.131;ExAC.Info.AC_Het=13990;ExAC.Info.AC_Hom=1293;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aAc;snpeff.Amino_Acid_Change=p.Thr79Asn/c.236C>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317078;SAVANT_GENE=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N1" target="_blank">OR52N1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.236C>A_p.Thr79Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N1+c.236C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5809811">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,91:160:99:2532,0,1941:127	0|0:217,0:217:99:0,651,7684:127	1|0:97,100:197:99:2770,0,2877:127
11	5809990	.	G	A	6189.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11039038;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11039038" target="_blank">rs11039038</a>;ExAC.Info.AC=12554;ExAC.Info.AN=126670;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=10935;ExAC.Info.AC_Hom=791;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile19Ile/c.57C>T;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317078;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317078;SAVANT_GENE=OR52N1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N1" target="_blank">OR52N1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.57C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N1+c.57C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5809990">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,32:68:99:785,0,1102:127	0|0:118,0:118:99:0,354,4014:127	1|0:44,56:100:99:1614,0,1344:127
11	5841856	.	C	T	13529.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=414;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4758435;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758435" target="_blank">rs4758435</a>;ExAC.Info.AC=97814;ExAC.Info.AN=126704;ExAC.Info.AF=0.772;ExAC.Info.AC_Het=21761;ExAC.Info.AC_Hom=37993;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.291C>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317037;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn97Asn/c.291C>T;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317037;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317037;SAVANT_GENE=OR52N2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N2" target="_blank">OR52N2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.291C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N2+c.291C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5841856">View</a>	GT:AD:DP:GQ:PL:TP	0/1:50,83:133:99:2246,0,1274:127	0/1:99,67:166:99:1898,0,2947:127	0/1:52,63:115:99:1964,0,1395:127
11	5842310	.	T	G	17218.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=486;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs8181529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8181529" target="_blank">rs8181529</a>;ExAC.Info.AC=71253;ExAC.Info.AN=126694;ExAC.Info.AF=0.562;ExAC.Info.AC_Het=30510;ExAC.Info.AC_Hom=20351;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745T>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317037;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Gcc;snpeff.Amino_Acid_Change=p.Ser249Ala/c.745T>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317037;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317037;SAVANT_GENE=OR52N2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N2" target="_blank">OR52N2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.745T>G_p.Ser249Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N2+c.745T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5842310">View</a>	GT:AD:DP:GQ:PL:TP	0/1:78,75:153:99:2379,0,2225:127	0/1:87,89:176:99:3077,0,2530:127	0/1:87,70:157:99:2267,0,2619:127
11	5842356	.	A	G	22196.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=724;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs8181512;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8181512" target="_blank">rs8181512</a>;ExAC.Info.AC=64936;ExAC.Info.AN=126698;ExAC.Info.AF=0.513;ExAC.Info.AC_Het=31018;ExAC.Info.AC_Hom=16949;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791A>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317037;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His264Arg/c.791A>G;snpeff.Amino_Acid_length=321;snpeff.Gene_Name=OR52N2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317037;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317037;SAVANT_GENE=OR52N2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52N2" target="_blank">OR52N2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.791A>G_p.His264Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52N2+c.791A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5842356">View</a>	GT:AD:DP:GQ:PL:TP	0/1:124,106:230:99:3061,0,3566:127	0/1:115,142:257:99:4194,0,3356:127	0/1:135,102:237:99:2890,0,3961:127
11	5862532	.	A	C	9416.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=371;MQ=69.93;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10742809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10742809" target="_blank">rs10742809</a>;ExAC.Info.AC=42798;ExAC.Info.AN=126698;ExAC.Info.AF=0.338;ExAC.Info.AC_Het=28031;ExAC.Info.AC_Hom=7352;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aGg;snpeff.Amino_Acid_Change=p.Met203Arg/c.608T>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329322;SAVANT_GENE=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E6" target="_blank">OR52E6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.596T>G_p.Met199Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E6+c.596T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5862532">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,53:107:99:1666,0,1548:127	0|0:143,0:143:99:0,430,5173:127	1|0:62,59:121:99:1864,0,1804:127
11	5862653	.	T	C	8094.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=380;MQ=69.76;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4357719;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4357719" target="_blank">rs4357719</a>;ExAC.Info.AC=46833;ExAC.Info.AN=126688;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=29474;ExAC.Info.AC_Hom=8661;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile163Val/c.487A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329322;SAVANT_GENE=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E6" target="_blank">OR52E6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.475A>G_p.Ile159Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E6+c.475A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5862653">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,72:132:99:1936,0,1547:127	0|0:136,0:136:99:0,408,4673:127	1|0:54,58:112:99:1555,0,1655:127
11	5862780	.	T	C	10129.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=448;MQ=69.52;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4362172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4362172" target="_blank">rs4362172</a>;ExAC.Info.AC=46841;ExAC.Info.AN=126704;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=29491;ExAC.Info.AC_Hom=8660;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val120Val/c.360A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329322;SAVANT_GENE=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E6" target="_blank">OR52E6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.348A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E6+c.348A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5862780">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,59:129:99:1611,0,1949:127	0|0:182,0:182:99:0,546,6089:127	1|0:70,67:137:99:2182,0,1965:127
11	5862845	.	A	G	11056.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=541;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4592451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4592451" target="_blank">rs4592451</a>;ExAC.Info.AC=46833;ExAC.Info.AN=126704;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=29484;ExAC.Info.AC_Hom=8658;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Cct;snpeff.Amino_Acid_Change=p.Ser99Pro/c.295T>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329322;SAVANT_GENE=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E6" target="_blank">OR52E6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.283T>C_p.Ser95Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E6+c.283T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5862845">View</a>	GT:AD:DP:GQ:PL:TP	1|0:89,74:163:99:2206,0,2441:127	0|0:211,0:211:99:0,634,6998:127	1|0:92,75:167:99:2185,0,2526:127
11	5862937	.	C	A	8790.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=410;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4495918;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4495918" target="_blank">rs4495918</a>;ExAC.Info.AC=46793;ExAC.Info.AN=126680;ExAC.Info.AF=0.369;ExAC.Info.AC_Het=29430;ExAC.Info.AC_Hom=8629;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tTc;snpeff.Amino_Acid_Change=p.Cys68Phe/c.203G>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329322;SAVANT_GENE=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E6" target="_blank">OR52E6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.191G>T_p.Cys64Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E6+c.191G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5862937">View</a>	GT:AD:DP:GQ:PL:TP	1|0:68,53:121:99:1435,0,2289:127	0|0:143,0:143:99:0,430,5481:127	1|0:74,72:146:99:2110,0,2286:127
11	5862984	.	G	C	10412.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=408;MQ=69.98;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10769272;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769272" target="_blank">rs10769272</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=46822;ExAC.Info.AN=126688;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=29468;ExAC.Info.AC_Hom=8642;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttC/ttG;snpeff.Amino_Acid_Change=p.Phe52Leu/c.156C>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329322;SAVANT_GENE=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E6" target="_blank">OR52E6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.144C>G_p.Phe48Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E6+c.144C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5862984">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,56:116:99:1809,0,1962:127	0|0:147,0:147:99:0,441,5736:127	1|0:74,71:145:99:2248,0,2347:127
11	5863013	.	T	C	11747.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=475;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4362173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4362173" target="_blank">rs4362173</a>;ExAC.Info.AC=46828;ExAC.Info.AN=126674;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=29442;ExAC.Info.AC_Hom=8638;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile43Val/c.127A>G;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329322;SAVANT_GENE=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E6" target="_blank">OR52E6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.115A>G_p.Ile39Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E6+c.115A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5863013">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,65:130:99:1886,0,1642:127	0|0:177,0:177:99:0,532,6039:127	1|0:84,84:168:99:2607,0,2378:127
11	5863113	.	G	A	12443.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=700;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10742810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10742810" target="_blank">rs10742810</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=46686;ExAC.Info.AN=126452;ExAC.Info.AF=0.369;ExAC.Info.AC_Het=29295;ExAC.Info.AC_Hom=8572;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn9Asn/c.27C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379946;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329322;SAVANT_GENE=OR52E6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E6" target="_blank">OR52E6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.15C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E6+c.15C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5863113">View</a>	GT:AD:DP:GQ:PL:TP	1|0:112,94:206:99:2551,0,2991:127	0|0:285,0:285:99:0,856,9533:127	1|0:113,96:209:99:2658,0,3146:127
11	5877979	.	T	A	8662.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs12419602;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12419602" target="_blank">rs12419602</a>;ExAC.Info.AC=49258;ExAC.Info.AN=125634;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=27045;ExAC.Info.AC_Hom=9833;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=stop_lost;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=taA/taT;snpeff.Amino_Acid_Change=p.Ter318Tyrext*?/c.954A>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR52E8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537935;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000537935;SAVANT_GENE=OR52E8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E8" target="_blank">OR52E8</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.954A>T_p.X318TyrextX?;SAVANT_EFFECT=STOP_LOSS;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SL;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E8+c.954A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5877979">View</a>	GT:AD:DP:GQ:PL:TP	0/1:57,44:101:99:1157,0,1648:127	0/1:78,54:132:99:1515,0,2316:127	0/1:55,51:106:99:1332,0,1585:127
11	5906048	.	G	A	41769.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=518;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4758168;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758168" target="_blank">rs4758168</a>;ExAC.Info.AC=99108;ExAC.Info.AN=126682;ExAC.Info.AF=0.782;ExAC.Info.AC_Het=21146;ExAC.Info.AC_Hom=38918;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.526G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.526G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val176Ile/c.526G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316987;SAVANT_GENE=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E4" target="_blank">OR52E4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.526G>A_p.Val176Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E4+c.526G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5906048">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,162:162:99:6710,490,0:127	1|0:90,97:187:99:3466,0,3371:127	1|1:0,169:169:99:7213,523,0:127
11	5906073	.	G	T	38279.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=466;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4757986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4757986" target="_blank">rs4757986</a>;ExAC.Info.AC=99113;ExAC.Info.AN=126682;ExAC.Info.AF=0.782;ExAC.Info.AC_Het=21138;ExAC.Info.AC_Hom=38912;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.551G>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.551G>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aTg;snpeff.Amino_Acid_Change=p.Arg184Met/c.551G>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316987;SAVANT_GENE=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E4" target="_blank">OR52E4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.551G>T_p.Arg184Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E4+c.551G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5906073">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,144:144:99:6249,442,0:127	1|0:93,82:175:99:3042,0,3551:127	1|1:0,147:147:99:6353,445,0:127
11	5906143	.	T	C	20520.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=596;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11823809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11823809" target="_blank">rs11823809</a>;ExAC.Info.AC=49396;ExAC.Info.AN=126690;ExAC.Info.AF=0.390;ExAC.Info.AC_Het=29756;ExAC.Info.AC_Hom=9798;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.621T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr207Tyr/c.621T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316987;SAVANT_GENE=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E4" target="_blank">OR52E4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.621T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E4+c.621T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5906143">View</a>	GT:AD:DP:GQ:PL:TP	0/1:113,90:203:99:2903,0,3181:127	0/1:115,100:215:99:3322,0,3477:127	0/1:89,89:178:99:3002,0,2642:127
11	5906192	.	A	C	65966.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=855;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1453435;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1453435" target="_blank">rs1453435</a>;ExAC.Info.AC=99843;ExAC.Info.AN=126702;ExAC.Info.AF=0.788;ExAC.Info.AC_Het=20687;ExAC.Info.AC_Hom=39533;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.670A>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Aga/Cga;snpeff.Amino_Acid_Change=p.Arg224Arg/c.670A>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316987;SAVANT_GENE=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E4" target="_blank">OR52E4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.670A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E4+c.670A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5906192">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,289:289:99:12995,891,0:127	1|0:167,127:294:99:4836,0,4864:127	1|1:0,272:272:99:12215,837,0:127
11	5906203	.	T	G	25697.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=918;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11823828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11823828" target="_blank">rs11823828</a>;ExAC.Info.AC=49426;ExAC.Info.AN=126700;ExAC.Info.AF=0.390;ExAC.Info.AC_Het=29790;ExAC.Info.AC_Hom=9794;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.681T>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttT/ttG;snpeff.Amino_Acid_Change=p.Phe227Leu/c.681T>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316987;SAVANT_GENE=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E4" target="_blank">OR52E4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.681T>G_p.Phe227Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E4+c.681T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5906203">View</a>	GT:AD:DP:GQ:PL:TP	0/1:167,138:305:99:3877,0,6614:127	0/1:185,128:313:99:3556,0,7068:127	0/1:155,145:300:99:3896,0,6146:127
11	5906205	.	G	A	18729.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=927;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4757987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4757987" target="_blank">rs4757987</a>;ExAC.Info.AC=49722;ExAC.Info.AN=126700;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=29916;ExAC.Info.AC_Hom=9880;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.683G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg228His/c.683G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316987;SAVANT_GENE=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E4" target="_blank">OR52E4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.683G>A_p.Arg228His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E4+c.683G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5906205">View</a>	GT:AD:DP:GQ:PL:TP	1|0:140,166:306:99:4421,0,5392:127	0|0:318,0:318:99:0,963,14010:127	1|0:148,155:303:99:4409,0,5776:127
11	5906291	.	T	C	27781.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=903;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11823842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11823842" target="_blank">rs11823842</a>;ExAC.Info.AC=49381;ExAC.Info.AN=126690;ExAC.Info.AF=0.390;ExAC.Info.AC_Het=29750;ExAC.Info.AC_Hom=9787;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.769T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttt/Ctt;snpeff.Amino_Acid_Change=p.Phe257Leu/c.769T>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316987;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316987;SAVANT_GENE=OR52E4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52E4" target="_blank">OR52E4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.769T>C_p.Phe257Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52E4+c.769T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5906291">View</a>	GT:AD:DP:GQ:PL:TP	0/1:143,149:292:99:4593,0,3875:127	0/1:171,139:310:99:4078,0,4971:127	0/1:156,145:301:99:4342,0,4600:127
11	5922222	.	T	C	19875.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10160336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10160336" target="_blank">rs10160336</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5922222">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,84:154:99:2539,0,1802:127	1|1:0,150:150:99:5245,451,0:127	0|1:71,54:125:99:1619,0,1970:127
11	5922707	.	C	T	30003.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7106300;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7106300" target="_blank">rs7106300</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5922707">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:3741,328,0:127	1|1:0,149:149:99:5332,448,0:127	1|1:0,110:110:99:3791,331,0:127
11	5923297	.	A	G	15432.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4601752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4601752" target="_blank">rs4601752</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TRIM5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM5" target="_blank">TRIM5</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM5+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5923297">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,54:54:99:1985,162,0:127	1|1:0,71:71:99:2545,213,0:127	1|1:0,62:62:99:2181,186,0:127
11	5969185	.	A	G	4444.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=567;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10769378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769378" target="_blank">rs10769378</a>;ExAC.Info.AC=32140;ExAC.Info.AN=126406;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=23154;ExAC.Info.AC_Hom=4422;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.609A>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR56A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR56A3" target="_blank">OR56A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329564;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln203Gln/c.609A>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR56A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR56A3" target="_blank">OR56A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329564;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329564;SAVANT_GENE=OR56A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR56A3" target="_blank">OR56A3</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.609A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR56A3+c.609A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5969185">View</a>	GT:AD:DP:GQ:PL:TP	0|0:191,0:191:99:0,574,6551:127	0|0:216,0:216:99:0,649,7658:127	0|1:86,74:160:99:2241,0,2571:127
11	5989223	.	G	A	4300.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=426;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61730422;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61730422" target="_blank">rs61730422</a>;ExAC.Info.AC=7207;ExAC.Info.AN=126104;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=4839;ExAC.Info.AC_Hom=214;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.502C>T;snpeff.Gene_Name=RP11-451K18.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-451K187" target="_blank">RP11-451K187</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532411;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-451K187" target="_blank">RP11-451K187</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-451K187+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5989223">View</a>	GT:AD:DP:GQ:PL:TP	0|0:129,0:129:99:0,388,4367:127	0|1:75,75:150:99:2169,0,2180:127	0|0:147,0:147:99:0,441,5161:127
11	5989293	.	G	A	8541.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7113548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7113548" target="_blank">rs7113548</a>;ExAC.Info.AC=32049;ExAC.Info.AN=126640;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=23065;ExAC.Info.AC_Hom=3840;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.432C>T;snpeff.Gene_Name=RP11-451K18.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-451K187" target="_blank">RP11-451K187</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532411;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-451K187" target="_blank">RP11-451K187</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-451K187+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:5989293">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,64:131:99:1742,0,1842:127	0|0:162,0:162:99:0,486,5756:127	1|0:73,56:129:99:1647,0,1988:127
11	6007272	.	A	G	13973.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=201;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4237768;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4237768" target="_blank">rs4237768</a>;ExAC.Info.AC=104566;ExAC.Info.AN=125374;ExAC.Info.AF=0.834;ExAC.Info.AC_Het=16843;ExAC.Info.AC_Hom=43395;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=OR52L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L1" target="_blank">OR52L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp297Arg/c.889T>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=OR52L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L1" target="_blank">OR52L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332249;SAVANT_GENE=OR52L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L1" target="_blank">OR52L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.889T>C_p.Trp297Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52L1+c.889T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6007272">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,78:79:99:2521,227,0:127	1|0:39,30:69:99:849,0,1139:127	1|1:0,53:53:99:1796,159,0:127
11	6007613	.	T	G	18536.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=277;MQ=69.81;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4354673;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4354673" target="_blank">rs4354673</a>;ExAC.Info.AC=98022;ExAC.Info.AN=124986;ExAC.Info.AF=0.784;ExAC.Info.AC_Het=19812;ExAC.Info.AC_Hom=39037;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=OR52L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L1" target="_blank">OR52L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.548T>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=OR52L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L1" target="_blank">OR52L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aCa;snpeff.Amino_Acid_Change=p.Lys183Thr/c.548A>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=OR52L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L1" target="_blank">OR52L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332249;SAVANT_GENE=OR52L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L1" target="_blank">OR52L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.548A>C_p.Lys183Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52L1+c.548A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6007613">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,92:92:99:2981,275,0:127	1|0:48,55:103:99:1487,0,1183:127	1|1:0,82:82:99:2796,246,0:127
11	6007680	.	A	G	19274.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=284;MQ=68.88;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4436524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4436524" target="_blank">rs4436524</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=99327;ExAC.Info.AN=125172;ExAC.Info.AF=0.794;ExAC.Info.AC_Het=19749;ExAC.Info.AC_Hom=39680;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=OR52L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L1" target="_blank">OR52L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.481A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=OR52L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L1" target="_blank">OR52L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys161Arg/c.481T>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=OR52L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L1" target="_blank">OR52L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332249;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332249;SAVANT_GENE=OR52L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L1" target="_blank">OR52L1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.481T>C_p.Cys161Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52L1+c.481T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6007680">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3430,288,0:127	1|0:52,63:115:99:1843,0,1539:127	1|1:0,73:73:99:2673,219,0:127
11	6048056	.	T	C	9838.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11040335;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11040335" target="_blank">rs11040335</a>;ExAC.Info.AC=41747;ExAC.Info.AN=126696;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=26738;ExAC.Info.AC_Hom=7490;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.879T>C;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR56A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR56A1" target="_blank">OR56A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316650;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala293Ala/c.879A>G;snpeff.Amino_Acid_length=318;snpeff.Gene_Name=OR56A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR56A1" target="_blank">OR56A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316650;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316650;SAVANT_GENE=OR56A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR56A1" target="_blank">OR56A1</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.879A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR56A1+c.879A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6048056">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,51:89:99:1435,0,1024:127	0|0:105,2:107:99:0,272,3528:127	1|1:0,84:84:99:2814,251,0:127
11	6079001	.	G	A	4258.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=479;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4448669;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4448669" target="_blank">rs4448669</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.505C>T;snpeff.Gene_Name=OR52L2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L2P" target="_blank">OR52L2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000572217;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52L2P" target="_blank">OR52L2P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52L2P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6079001">View</a>	GT:AD:DP:GQ:PL:TP	0|0:161,0:161:99:0,483,5351:127	0|1:73,81:154:99:2148,0,2037:127	0|0:164,0:164:99:0,493,5501:127
11	6129837	.	C	T	21449.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=311;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1462983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1462983" target="_blank">rs1462983</a>;ExAC.Info.AC=64384;ExAC.Info.AN=126704;ExAC.Info.AF=0.508;ExAC.Info.AC_Het=28018;ExAC.Info.AC_Hom=18179;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.372-28G>A;snpeff.Gene_Name=RP11-290F24.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-290F243" target="_blank">RP11-290F243</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000529961;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.829C>T;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR56B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-290F243" target="_blank">RP11-290F243</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316529;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro277Ser/c.829C>T;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR56B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-290F243" target="_blank">RP11-290F243</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316529;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316529;SAVANT_GENE=OR56B4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR56B4" target="_blank">OR56B4</a>;SAVANT_INFO=+/1.2kb/1/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.829C>T_p.Pro277Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR56B4+c.829C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6129837">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2561,240,0:127	1|1:0,118:118:99:4030,354,0:127	1|0:56,57:113:99:1535,0,1624:127
11	6173364	.	T	A	43547.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=528;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs325695;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=325695" target="_blank">rs325695</a>;ExAC.Info.AC=18685;ExAC.Info.AN=20752;ExAC.Info.AF=0.900;ExAC.Info.AC_Het=1106;ExAC.Info.AC_Hom=6960;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.286+33157A>T;snpeff.Gene_Name=RP11-290F24.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-290F243" target="_blank">RP11-290F243</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000529961;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aTt;snpeff.Amino_Acid_Change=p.Asn152Ile/c.455A>T;snpeff.Amino_Acid_length=270;snpeff.Gene_Name=OR52B1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-290F243" target="_blank">RP11-290F243</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316506;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316506;SAVANT_GENE=AC022762.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0227621" target="_blank">AC0227621</a>;SAVANT_INFO=-/0.8kb/1/0.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.455A>T_p.Asn152Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AC0227621+c.455A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6173364">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4396,397,0:127	1|1:0,221:221:99:7695,664,0:127	1|1:0,175:175:99:6087,526,0:127
11	6221169	.	A	G	9898.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10839531;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10839531" target="_blank">rs10839531</a>;ExAC.Info.AC=95799;ExAC.Info.AN=126704;ExAC.Info.AF=0.756;ExAC.Info.AC_Het=20844;ExAC.Info.AC_Hom=37538;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.716A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52W1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52W1" target="_blank">OR52W1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311352;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His239Arg/c.716A>G;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52W1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52W1" target="_blank">OR52W1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311352;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311352;SAVANT_GENE=OR52W1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52W1" target="_blank">OR52W1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.716A>G_p.His239Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52W1+c.716A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6221169">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,38:76:99:1082,0,1081:127	0|0:87,0:87:99:0,261,3209:127	1|1:0,99:99:99:3274,297,0:127
11	6221214	.	T	A	8941.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11040799;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11040799" target="_blank">rs11040799</a>;ExAC.Info.AC=86220;ExAC.Info.AN=126704;ExAC.Info.AF=0.680;ExAC.Info.AC_Het=25282;ExAC.Info.AC_Hom=30469;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.761T>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52W1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52W1" target="_blank">OR52W1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311352;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cAg;snpeff.Amino_Acid_Change=p.Leu254Gln/c.761T>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=OR52W1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52W1" target="_blank">OR52W1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311352;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311352;SAVANT_GENE=OR52W1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR52W1" target="_blank">OR52W1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.761T>A_p.Leu254Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR52W1+c.761T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6221214">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,42:86:99:1140,0,1223:127	0|0:100,1:101:99:0,259,3706:127	1|1:0,80:80:99:2858,240,0:127
11	6231731	.	C	T	8299.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10769671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769671" target="_blank">rs10769671</a>;ExAC.Info.AC=89245;ExAC.Info.AN=126702;ExAC.Info.AF=0.704;ExAC.Info.AC_Het=24840;ExAC.Info.AC_Hom=32133;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.724C>T;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=C11orf42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf42" target="_blank">C11orf42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316375;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.724C>T;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=C11orf42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf42" target="_blank">C11orf42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316375;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro242Ser/c.724C>T;snpeff.Amino_Acid_length=333;snpeff.Gene_Name=C11orf42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf42" target="_blank">C11orf42</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316375;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316375;SAVANT_GENE=C11orf42;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf42" target="_blank">C11orf42</a>;SAVANT_INFO=+/5.6kb/3/1.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.724C>T_p.Pro242Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf42+c.724C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6231731">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,35:70:99:950,0,991:127	0|0:93,0:93:99:0,279,3544:127	1|1:0,71:71:99:2490,213,0:127
11	6238663	.	G	A	2700.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72910144;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72910144" target="_blank">rs72910144</a>;ExAC.Info.AC=886;ExAC.Info.AN=126704;ExAC.Info.AF=6.993e-03;ExAC.Info.AC_Het=882;ExAC.Info.AC_Hom=2;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCt/cTt;snpeff.Amino_Acid_Change=p.Pro732Leu/c.2195C>T;snpeff.Amino_Acid_length=986;snpeff.Gene_Name=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265978;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265978;SAVANT_GENE=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;SAVANT_INFO=-/23.4kb/12/3.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.2195C>T_p.Pro732Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160A2+c.2195C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6238663">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,262,3187:127	0|0:112,0:112:99:0,337,4264:127	0|1:41,45:86:99:1369,0,1307:127
11	6239139	.	A	G	11692.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs11040809;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11040809" target="_blank">rs11040809</a>;ExAC.Info.AC=24817;ExAC.Info.AN=126692;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=18840;ExAC.Info.AC_Hom=2943;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg573Arg/c.1719T>C;snpeff.Amino_Acid_length=986;snpeff.Gene_Name=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265978;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265978;SAVANT_GENE=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;SAVANT_INFO=-/23.4kb/12/3.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1719T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160A2+c.1719T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6239139">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,46:87:99:1372,0,1031:127	1|1:0,103:103:99:3461,309,0:127	0|0:104,0:104:99:0,312,3383:127
11	6239344	.	G	A	8394.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3750944;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750944" target="_blank">rs3750944</a>;ExAC.Info.AC=65364;ExAC.Info.AN=126628;ExAC.Info.AF=0.516;ExAC.Info.AC_Het=29892;ExAC.Info.AC_Hom=16359;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr505Met/c.1514C>T;snpeff.Amino_Acid_length=986;snpeff.Gene_Name=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265978;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265978;SAVANT_GENE=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;SAVANT_INFO=-/23.4kb/12/3.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1514C>T_p.Thr505Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160A2+c.1514C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6239344">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,25:70:99:653,0,1208:123	1|1:0,84:84:99:2793,252,0:123	0|0:54,1:55:99:0,124,1756:123
11	6243804	.	A	G	5254.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3750945;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750945" target="_blank">rs3750945</a>;ExAC.Info.AC=100357;ExAC.Info.AN=126704;ExAC.Info.AF=0.792;ExAC.Info.AC_Het=18778;ExAC.Info.AC_Hom=40781;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr353Tyr/c.1059T>C;snpeff.Amino_Acid_length=986;snpeff.Gene_Name=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265978;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265978;SAVANT_GENE=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;SAVANT_INFO=-/23.4kb/12/3.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1059T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160A2+c.1059T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6243804">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,20:40:99:598,0,541:127	0|0:54,1:55:99:0,155,1791:127	1|1:0,43:43:99:1563,129,0:127
11	6243843	.	C	G	4846.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3750946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750946" target="_blank">rs3750946</a>;ExAC.Info.AC=101657;ExAC.Info.AN=126704;ExAC.Info.AF=0.802;ExAC.Info.AC_Het=18808;ExAC.Info.AC_Hom=41376;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1024-4G>C;snpeff.Amino_Acid_length=986;snpeff.Gene_Name=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265978;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1024G>C;snpeff.Amino_Acid_length=986;snpeff.Gene_Name=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265978;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265978;SAVANT_GENE=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;SAVANT_INFO=-/23.4kb/12/3.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1024-4G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160A2+c.1024-4G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6243843">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,17:35:99:466,0,530:125	0|0:45,0:45:99:0,135,1718:125	1|1:0,42:42:99:1490,126,0:125
11	6245555	.	C	T	10474.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs325608;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=325608" target="_blank">rs325608</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.138+54G>A;snpeff.Amino_Acid_length=986;snpeff.Gene_Name=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265978;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265978;SAVANT_GENE=FAM160A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM160A2" target="_blank">FAM160A2</a>;SAVANT_INFO=-/23.4kb/12/3.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.138+54G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM160A2+c.138+54G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6245555">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,35:70:99:1091,0,1063:127	1|1:0,98:98:99:3446,294,0:127	0|0:62,0:62:99:0,186,2370:127
11	6262715	.	G	A	6723.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7129498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7129498" target="_blank">rs7129498</a>;ExAC.Info.AC=22473;ExAC.Info.AN=126692;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=17518;ExAC.Info.AC_Hom=2434;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=CNGA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNGA4" target="_blank">CNGA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379936;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=CNGA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNGA4" target="_blank">CNGA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379936;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=CNGA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNGA4" target="_blank">CNGA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379936;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln324Gln/c.972G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=CNGA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNGA4" target="_blank">CNGA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379936;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379936;SAVANT_GENE=CNGA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CNGA4" target="_blank">CNGA4</a>;SAVANT_INFO=+/5.3kb/6/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.972G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CNGA4+c.972G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6262715">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,37:73:99:1029,0,1075:127	1|1:0,54:54:99:1775,162,0:127	0|0:49,0:49:99:0,147,1865:127
11	6281400	.	T	C	6693.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11040819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11040819" target="_blank">rs11040819</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.151+91T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=CCKBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCKBR" target="_blank">CCKBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525462;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=CCKBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCKBR" target="_blank">CCKBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525462;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152T>C;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=CCKBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCKBR" target="_blank">CCKBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525462;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334619;SAVANT_GENE=CCKBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCKBR" target="_blank">CCKBR</a>;SAVANT_INFO=+/12.4kb/5/2.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.151+91T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCKBR+c.151+91T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6281400">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,26:45:99:773,0,533:127	0|0:49,0:49:99:0,146,1572:127	1|1:0,49:49:99:1842,147,0:127
11	6292065	.	C	A	3292.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1800843;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800843" target="_blank">rs1800843</a>;ExAC.Info.AC=20308;ExAC.Info.AN=126686;ExAC.Info.AF=0.160;ExAC.Info.AC_Het=16680;ExAC.Info.AC_Hom=1759;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly281Gly/c.843C>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=CCKBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCKBR" target="_blank">CCKBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525462;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334619;SAVANT_GENE=CCKBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCKBR" target="_blank">CCKBR</a>;SAVANT_INFO=+/12.4kb/5/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.811+32C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCKBR+c.811+32C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6292065">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,0:111:99:0,333,3951:127	0|1:67,59:126:99:1665,0,1946:127	0|0:80,0:80:99:0,240,2630:127
11	6292837	.	C	G	77042.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=962;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10839535;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10839535" target="_blank">rs10839535</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=64;snpeff.Amino_Acid_Change=c.*64C>G;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=CCKBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCKBR" target="_blank">CCKBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525462;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334619;SAVANT_GENE=CCKBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCKBR" target="_blank">CCKBR</a>;SAVANT_INFO=+/12.4kb/5/2.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*64C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCKBR+c.*64C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6292837">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,320:320:99:14506,981,0:127	1|1:0,351:351:99:15887,1075,0:127	1|0:149,142:291:99:5477,0,5859:127
11	6292838	.	G	A	77042.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=974;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10839536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10839536" target="_blank">rs10839536</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=65;snpeff.Amino_Acid_Change=c.*65G>A;snpeff.Amino_Acid_length=516;snpeff.Gene_Name=CCKBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCKBR" target="_blank">CCKBR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525462;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334619;SAVANT_GENE=CCKBR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCKBR" target="_blank">CCKBR</a>;SAVANT_INFO=+/12.4kb/5/2.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*65G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCKBR+c.*65G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6292838">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,324:324:99:14506,981,0:127	1|1:0,356:356:99:15887,1075,0:127	1|0:151,143:294:99:5477,0,5859:127
11	6340525	.	A	T	7598.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs12570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12570" target="_blank">rs12570</a>;cosmic68.Histology_subtype=ductal_carcinoma;ExAC.Info.AC=86283;ExAC.Info.AN=126228;ExAC.Info.AF=0.684;ExAC.Info.AC_Het=25992;ExAC.Info.AC_Hom=29198;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcA;snpeff.Amino_Acid_Change=p.Ala250Ala/c.750T>A;snpeff.Amino_Acid_length=293;snpeff.Gene_Name=PRKCDBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCDBP" target="_blank">PRKCDBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530979;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303927;SAVANT_GENE=PRKCDBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCDBP" target="_blank">PRKCDBP</a>;SAVANT_INFO=-/1.7kb/2/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.654T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKCDBP+c.654T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6340525">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,32:59:99:1004,0,797:127	0|1:33,28:61:99:789,0,1093:127	1|1:0,47:47:99:1690,141,0:127
11	6340706	.	A	G	11584.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1051992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1051992" target="_blank">rs1051992</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=69517;ExAC.Info.AN=126212;ExAC.Info.AF=0.551;ExAC.Info.AC_Het=29048;ExAC.Info.AC_Hom=18372;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu190Pro/c.569T>C;snpeff.Amino_Acid_length=293;snpeff.Gene_Name=PRKCDBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCDBP" target="_blank">PRKCDBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530979;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303927;SAVANT_GENE=PRKCDBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRKCDBP" target="_blank">PRKCDBP</a>;SAVANT_INFO=-/1.7kb/2/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.473T>C_p.Leu158Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRKCDBP+c.473T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6340706">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,34:73:99:996,0,1165:127	0|1:51,46:97:99:1360,0,1555:127	1|1:1,70:71:99:2403,203,0:127
11	6411935	.	TGCTGGC	CGCTGGC	17202.89	PASS	InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=203;MQ=70.26;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./.;OMIM_phenotypes.name=Niemann-Pick_disease|_type_A|_257200_(3)|_Niemann-Pick_disease|_type_B|_607616_(3);snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val36Ala/c.107T>C;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342245;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342245;SAVANT_GENE=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;SAVANT_INFO=+/4.6kb/6/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.107T>C_p.Val36Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPD1+c.107T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6411935">View</a>	GT:AD:DP:GQ:PL	./1:0,24:50:99:1585,930,1219	./.:2,1:84:99:2535,2737,4200	./1:0,32:69:99:2129,1235,1795
11	6411935	.	TGCTGGC	T	17202.89	PASS	InheritancePattern=Normal;AC=4;AF=1.00;AN=4;DP=203;MQ=70.26;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=1/1;OMIM_phenotypes.name=Niemann-Pick_disease|_type_A|_257200_(3)|_Niemann-Pick_disease|_type_B|_607616_(3);dbSNP139.ID=rs3838786;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3838786" target="_blank">rs3838786</a>;cosmic68.Histology_subtype=endometrioid_carcinoma;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gtgctggcg/gtg;snpeff.Amino_Acid_Change=p.Val36_Ala38del/c.108_113delGCTGGC;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342245;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000342245;SAVANT_GENE=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;SAVANT_INFO=+/4.6kb/6/2.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.138_143del6_p.Ala48_Leu49del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPD1+c.138_143del6+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6411935">View</a>	GT:AD:DP:GQ:PL	./1:0,26:50:99:1585,742,948	1/1:2,81:84:99:2535,198,0	./1:0,37:69:99:2129,1004,1105
11	6412931	.	T	C	2120.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Niemann-Pick_disease|_type_A|_257200_(3)|_Niemann-Pick_disease|_type_B|_607616_(3);dbSNP139.ID=rs7951904;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7951904" target="_blank">rs7951904</a>;ExAC.Info.AC=15854;ExAC.Info.AN=126268;ExAC.Info.AF=0.126;ExAC.Info.AC_Het=13071;ExAC.Info.AC_Hom=1205;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000079197;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp212Asp/c.636T>C;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342245;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342245;SAVANT_GENE=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;SAVANT_INFO=+/4.6kb/6/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.636T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPD1+c.636T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6412931">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000079197" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:147,1:148:99:0,435,4759:127	0|0:143,0:143:99:0,429,4983:127	0|1:48,34:82:99:1079,0,1433:127
11	6413366	.	C	T	14289.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=560;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Niemann-Pick_disease|_type_A|_257200_(3)|_Niemann-Pick_disease|_type_B|_607616_(3);dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72896268;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72896268" target="_blank">rs72896268</a>;ExAC.Info.AC=591;ExAC.Info.AN=126704;ExAC.Info.AF=4.664e-03;ExAC.Info.AC_Het=587;ExAC.Info.AC_Hom=2;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000079188;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala357Ala/c.1071C>T;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342245;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342245;SAVANT_GENE=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;SAVANT_INFO=+/4.6kb/6/2.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1071C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPD1+c.1071C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6413366">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000079188" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:76,99:175:99:3001,0,2031:127	1|0:100,107:207:99:3273,0,2881:127	0|0:178,0:178:99:0,534,5952:127
11	6415392	.	C	T	5238.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=501;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Niemann-Pick_disease|_type_A|_257200_(3)|_Niemann-Pick_disease|_type_B|_607616_(3);dbSNP139.ID=rs11601088;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11601088" target="_blank">rs11601088</a>;ExAC.Info.AC=14637;ExAC.Info.AN=126702;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=12517;ExAC.Info.AC_Hom=1045;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1487-36C>T;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342245;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342245;SAVANT_GENE=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;SAVANT_INFO=+/4.6kb/6/2.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1487-36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPD1+c.1487-36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6415392">View</a>	GT:AD:DP:GQ:PL:TP	0|0:146,0:146:99:0,438,5369:127	0|0:184,0:184:99:0,553,6582:127	0|1:78,93:171:99:2638,0,2266:127
11	6415463	.	G	A	7452.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=794;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Niemann-Pick_disease|_type_A|_257200_(3)|_Niemann-Pick_disease|_type_B|_607616_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1050239;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1050239" target="_blank">rs1050239</a>;ExAC.Info.AC=24361;ExAC.Info.AN=126702;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=19308;ExAC.Info.AC_Hom=2520;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000079195;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly508Arg/c.1522G>A;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342245;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342245;SAVANT_GENE=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;SAVANT_INFO=+/4.6kb/6/2.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1522G>A_p.Gly508Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPD1+c.1522G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6415463">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000079195" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:265,0:265:99:0,795,8775:127	0|1:150,129:279:99:3745,0,4242:127	0|0:250,0:250:99:0,751,8356:127
11	6415882	.	G	A	2754.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=388;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Niemann-Pick_disease|_type_A|_257200_(3)|_Niemann-Pick_disease|_type_B|_607616_(3);dbSNP139.ID=rs8164;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8164" target="_blank">rs8164</a>;ExAC.Info.AC=16015;ExAC.Info.AN=125252;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=11986;ExAC.Info.AC_Hom=1178;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=45;snpeff.Amino_Acid_Change=c.*45G>A;snpeff.Amino_Acid_length=631;snpeff.Gene_Name=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000342245;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000342245;SAVANT_GENE=SMPD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMPD1" target="_blank">SMPD1</a>;SAVANT_INFO=+/4.6kb/6/2.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*45G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMPD1+c.*45G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6415882">View</a>	GT:AD:DP:GQ:PL:TP	0|0:106,0:106:99:0,319,3771:127	0|0:146,0:146:99:0,439,5153:127	0|1:78,58:136:99:1396,0,2361:127
11	6416959	.	C	T	16171.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs1800606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800606" target="_blank">rs1800606</a>;ExAC.Info.AC=108680;ExAC.Info.AN=126588;ExAC.Info.AF=0.859;ExAC.Info.AC_Het=14150;ExAC.Info.AC_Hom=45929;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1966-28G>A;snpeff.Amino_Acid_length=710;snpeff.Gene_Name=APBB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1" target="_blank">APBB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000609360;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299402;SAVANT_GENE=APBB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1" target="_blank">APBB1</a>;SAVANT_INFO=-/23.9kb/14/2.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1960-28G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1+c.1960-28G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6416959">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2480,222,0:127	1|1:0,77:77:99:2712,231,0:127	1|0:25,34:59:99:947,0,767:127
11	6417004	.	CTAG	C	2513.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1799755;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799755" target="_blank">rs1799755</a>;ExAC.Info.AC=19314;ExAC.Info.AN=126664;ExAC.Info.AF=0.152;ExAC.Info.AC_Het=15738;ExAC.Info.AC_Hom=1751;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1965+9_1965+11delCTA;snpeff.Amino_Acid_length=710;snpeff.Gene_Name=APBB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1" target="_blank">APBB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000609360;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000299402;SAVANT_GENE=APBB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1" target="_blank">APBB1</a>;SAVANT_INFO=-/23.9kb/14/2.6kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1959+9_1959+11delCTA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1+c.1959+9_1959+11delCTA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6417004">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,280,4170:127	0|0:96,0:96:99:0,289,4275:127	0|1:48,34:82:99:1280,0,1912:127
11	6417299	.	C	T	3584.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72896281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72896281" target="_blank">rs72896281</a>;ExAC.Info.AC=2081;ExAC.Info.AN=125756;ExAC.Info.AF=0.017;ExAC.Info.AC_Het=1755;ExAC.Info.AC_Hom=40;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1788+31G>A;snpeff.Amino_Acid_length=710;snpeff.Gene_Name=APBB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1" target="_blank">APBB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000609360;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299402;SAVANT_GENE=APBB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1" target="_blank">APBB1</a>;SAVANT_INFO=-/23.9kb/14/2.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1782+31G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1+c.1782+31G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6417299">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,345,3836:127	0|0:109,0:109:99:0,327,3845:127	0|1:37,61:98:99:1811,0,1076:127
11	6424610	.	T	C	4923.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1800423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800423" target="_blank">rs1800423</a>;ExAC.Info.AC=615;ExAC.Info.AN=126704;ExAC.Info.AF=4.854e-03;ExAC.Info.AC_Het=611;ExAC.Info.AC_Hom=2;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met327Val/c.979A>G;snpeff.Amino_Acid_length=710;snpeff.Gene_Name=APBB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1" target="_blank">APBB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000609360;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299402;SAVANT_GENE=APBB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1" target="_blank">APBB1</a>;SAVANT_INFO=-/23.9kb/14/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.979A>G_p.Met327Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1+c.979A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6424610">View</a>	GT:AD:DP:GQ:PL:TP	0|1:19,22:41:99:731,0,512:127	1|0:30,32:62:99:1033,0,857:127	0|0:49,0:49:99:0,147,1816:127
11	6424856	.	C	T	1896.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2682093;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2682093" target="_blank">rs2682093</a>;ExAC.Info.AC=16922;ExAC.Info.AN=126696;ExAC.Info.AF=0.134;ExAC.Info.AC_Het=13936;ExAC.Info.AC_Hom=1458;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.897+21G>A;snpeff.Amino_Acid_length=710;snpeff.Gene_Name=APBB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1" target="_blank">APBB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000609360;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299402;SAVANT_GENE=APBB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APBB1" target="_blank">APBB1</a>;SAVANT_INFO=-/23.9kb/14/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.897+21G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APBB1+c.897+21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6424856">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,2348:127	0|0:102,0:102:99:0,307,3759:127	0|1:45,33:78:99:967,0,1367:127
11	6477455	.	C	T	3728.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs13343175;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13343175" target="_blank">rs13343175</a>;ExAC.Info.AC=23745;ExAC.Info.AN=126690;ExAC.Info.AF=0.187;ExAC.Info.AC_Het=18473;ExAC.Info.AC_Hom=2554;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1430-50G>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=TRIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM3" target="_blank">TRIM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359518;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525074;SAVANT_GENE=TRIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM3" target="_blank">TRIM3</a>;SAVANT_INFO=-/25.8kb/12/3.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1430-50G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM3+c.1430-50G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6477455">View</a>	GT:AD:DP:GQ:PL:TP	0|0:96,0:96:99:0,288,3434:127	0|0:128,0:128:99:0,385,4815:127	0|1:50,68:118:99:1883,0,1501:127
11	6477831	.	C	T	2814.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10606;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10606" target="_blank">rs10606</a>;cosmic68.Histology_subtype=plasma_cell_myeloma;ExAC.Info.AC=22988;ExAC.Info.AN=126072;ExAC.Info.AF=0.182;ExAC.Info.AC_Het=17689;ExAC.Info.AC_Hom=2311;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro375Pro/c.1125G>A;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=TRIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM3" target="_blank">TRIM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359518;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525074;SAVANT_GENE=TRIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM3" target="_blank">TRIM3</a>;SAVANT_INFO=-/25.8kb/12/3.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1125G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM3+c.1125G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6477831">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,346,3877:127	0|0:110,0:110:99:0,331,3891:127	0|1:37,48:85:99:1426,0,921:127
11	6478619	.	G	A	1300.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs16913748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16913748" target="_blank">rs16913748</a>;ExAC.Info.AC=23321;ExAC.Info.AN=126704;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=18422;ExAC.Info.AC_Hom=2443;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile201Ile/c.603C>T;snpeff.Amino_Acid_length=744;snpeff.Gene_Name=TRIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM3" target="_blank">TRIM3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359518;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525074;SAVANT_GENE=TRIM3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM3" target="_blank">TRIM3</a>;SAVANT_INFO=-/25.8kb/12/3.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.603C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM3+c.603C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6478619">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1069:89	0|0:48,0:48:99:0,144,1794:89	0|1:20,23:43:99:669,0,535:89
11	6502727	.	C	G	2944.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11604726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11604726" target="_blank">rs11604726</a>;ExAC.Info.AC=22592;ExAC.Info.AN=126694;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=17949;ExAC.Info.AC_Hom=2177;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TIMM10B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=20;snpeff.Amino_Acid_Change=c.-20C>G;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=TIMM10B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254616;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254616;SAVANT_GENE=FXC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FXC1" target="_blank">FXC1</a>;SAVANT_INFO=+/3.2kb/3/2.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-20C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FXC1+c.-20C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6502727">View</a>	GT:AD:DP:GQ:PL:TP	0|0:134,0:134:99:0,402,4441:127	0|0:166,0:166:99:0,499,5588:127	0|1:68,51:119:99:1491,0,2052:127
11	6502780	.	C	A	4020.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=570;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11555935;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11555935" target="_blank">rs11555935</a>;ExAC.Info.AC=21136;ExAC.Info.AN=126578;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=15976;ExAC.Info.AC_Hom=1680;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.34C>A;snpeff.Gene_Name=TIMM10B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000472836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cga/Aga;snpeff.Amino_Acid_Change=p.Arg12Arg/c.34C>A;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=TIMM10B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254616;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254616;SAVANT_GENE=FXC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FXC1" target="_blank">FXC1</a>;SAVANT_INFO=+/3.2kb/3/2.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.34C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FXC1+c.34C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6502780">View</a>	GT:AD:DP:GQ:PL:TP	0|0:184,0:184:99:0,553,6309:127	0|0:219,0:219:99:0,658,7409:127	0|1:91,76:167:99:2029,0,2455:127
11	6503127	.	G	A	5660.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2303492;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2303492" target="_blank">rs2303492</a>;ExAC.Info.AC=37831;ExAC.Info.AN=126704;ExAC.Info.AF=0.299;ExAC.Info.AC_Het=25322;ExAC.Info.AC_Hom=6180;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.135+45G>A;snpeff.Gene_Name=TIMM10B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000472836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.135+45G>A;snpeff.Amino_Acid_length=103;snpeff.Gene_Name=TIMM10B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254616;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254616;SAVANT_GENE=FXC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FXC1" target="_blank">FXC1</a>;SAVANT_INFO=+/3.2kb/3/2.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.135+45G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FXC1+c.135+45G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6503127">View</a>	GT:AD:DP:GQ:PL:TP	0/1:23,22:45:99:654,0,649:127	0/1:25,23:48:99:759,0,785:127	0/1:21,25:46:99:773,0,628:127
11	6519642	.	G	A	14509.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11604149;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11604149" target="_blank">rs11604149</a>;ExAC.Info.AC=58269;ExAC.Info.AN=126704;ExAC.Info.AF=0.460;ExAC.Info.AC_Het=30056;ExAC.Info.AC_Hom=14096;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TIMM10B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg66Gln/c.197G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.197G>A_p.Arg66Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.197G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6519642">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,58:93:99:1596,0,843:127	0|1:59,54:113:99:1483,0,1639:127	1|1:0,90:90:99:3026,270,0:127
11	6520015	.	G	T	8953.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs11040899;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11040899" target="_blank">rs11040899</a>;ExAC.Info.AC=58210;ExAC.Info.AN=126702;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=30038;ExAC.Info.AC_Hom=14078;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TIMM10B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctT;snpeff.Amino_Acid_Change=p.Leu190Leu/c.570G>T;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.570G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.570G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6520015">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,45:75:99:1244,0,873:127	0|1:28,36:64:99:1090,0,877:127	1|1:0,59:59:99:2079,177,0:127
11	6520164	.	T	A	8314.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2555158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2555158" target="_blank">rs2555158</a>;ExAC.Info.AC=63756;ExAC.Info.AN=126696;ExAC.Info.AF=0.503;ExAC.Info.AC_Het=29982;ExAC.Info.AC_Hom=16768;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TIMM10B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gAg;snpeff.Amino_Acid_Change=p.Val240Glu/c.719T>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.719T>A_p.Val240Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.719T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6520164">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,36:64:99:1030,0,750:127	0|1:37,34:71:99:884,0,1077:127	1|1:0,58:58:99:1972,174,0:127
11	6524072	.	A	C	912.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11605196;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11605196" target="_blank">rs11605196</a>;ExAC.Info.AC=18783;ExAC.Info.AN=126702;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=15575;ExAC.Info.AC_Hom=1600;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TIMM10B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cCg;snpeff.Amino_Acid_Change=p.Gln279Pro/c.836A>C;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM10B" target="_blank">TIMM10B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.836A>C_p.Gln279Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.836A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6524072">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2799:127	0|0:67,0:67:99:0,201,2386:127	0|1:28,17:45:99:475,0,855:127
11	6530278	.	C	T	18089.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=585;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10839568;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10839568" target="_blank">rs10839568</a>;ExAC.Info.AC=36989;ExAC.Info.AN=126704;ExAC.Info.AF=0.292;ExAC.Info.AC_Het=25231;ExAC.Info.AC_Hom=5877;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe363Phe/c.1089C>T;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1089C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.1089C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6530278">View</a>	GT:AD:DP:GQ:PL:TP	0/1:85,97:182:99:2443,0,2529:127	0/1:115,117:232:99:3212,0,3454:127	0/1:88,83:171:99:2334,0,2715:127
11	6541225	.	C	G	2818.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11603869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11603869" target="_blank">rs11603869</a>;ExAC.Info.AC=22062;ExAC.Info.AN=126698;ExAC.Info.AF=0.174;ExAC.Info.AC_Het=17781;ExAC.Info.AC_Hom=2137;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln560Glu/c.1678C>G;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1678C>G_p.Gln560Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.1678C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6541225">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,355,4163:127	0|0:151,0:151:99:0,454,5315:127	0|1:57,52:109:99:1428,0,1684:127
11	6541580	.	T	G	4273.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2555143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2555143" target="_blank">rs2555143</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1837+61T>G;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1837+61T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.1837+61T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6541580">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,11:20:99:356,0,231:75	0|1:12,24:36:99:786,0,333:75	1|1:0,25:25:75:967,75,0:75
11	6549779	.	A	C	3918.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4633449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4633449" target="_blank">rs4633449</a>;ExAC.Info.AC=17498;ExAC.Info.AN=25668;ExAC.Info.AF=0.682;ExAC.Info.AC_Het=4457;ExAC.Info.AC_Hom=5864;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gCc;snpeff.Amino_Acid_Change=p.Asp622Ala/c.1865A>C;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1865A>C_p.Asp622Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.1865A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6549779">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,22:47:99:630,0,649:127	0/1:34,21:55:99:567,0,976:127	0/1:29,17:46:99:391,0,877:127
11	6549995	.	A	G	6466.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7480644;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7480644" target="_blank">rs7480644</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=22395;ExAC.Info.AN=34898;ExAC.Info.AF=0.642;ExAC.Info.AC_Het=4498;ExAC.Info.AC_Hom=5835;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn694Ser/c.2081A>G;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2081A>G_p.Asn694Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.2081A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6549995">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,21:35:99:833,0,773:127	0/1:25,26:51:99:974,0,1352:127	0/1:19,14:33:99:531,0,1172:127
11	6550004	.	A	G	6605.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2344828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2344828" target="_blank">rs2344828</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=22347;ExAC.Info.AN=33924;ExAC.Info.AF=0.659;ExAC.Info.AC_Het=4465;ExAC.Info.AC_Hom=5864;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln697Arg/c.2090A>G;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2090A>G_p.Gln697Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.2090A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6550004">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,19:32:99:793,0,776:127	0/1:20,25:45:99:998,0,1214:127	0/1:20,16:36:99:596,0,1213:127
11	6550309	.	G	A	2687.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=71;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2344829;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2344829" target="_blank">rs2344829</a>;ExAC.Info.AC=17389;ExAC.Info.AN=25576;ExAC.Info.AF=0.680;ExAC.Info.AC_Het=4506;ExAC.Info.AC_Hom=5804;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggg/Agg;snpeff.Amino_Acid_Change=p.Gly769Arg/c.2305G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.2305G>A_p.Gly769Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.2305G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6550309">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,9:17:99:273,0,205:127	0/1:15,13:28:99:383,0,458:127	0/1:10,16:26:99:477,0,277:127
11	6554941	.	C	A	6159.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4282961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4282961" target="_blank">rs4282961</a>;ExAC.Info.AC=6337;ExAC.Info.AN=26756;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=4144;ExAC.Info.AC_Hom=838;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Atg;snpeff.Amino_Acid_Change=p.Leu846Met/c.2536C>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2536C>A_p.Leu846Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.2536C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6554941">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,23:45:99:623,0,741:127	0/1:23,35:58:99:970,0,676:127	0/1:27,23:50:99:667,0,727:127
11	6555365	.	A	G	42620.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=506;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7103810;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7103810" target="_blank">rs7103810</a>;ExAC.Info.AC=21401;ExAC.Info.AN=25122;ExAC.Info.AF=0.852;ExAC.Info.AC_Het=2595;ExAC.Info.AC_Hom=8176;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp987Gly/c.2960A>G;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2960A>G_p.Asp987Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.2960A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6555365">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:5235,456,0:127	1|1:1,191:192:99:6785,567,0:127	1|1:0,162:162:99:5665,486,0:127
11	6561270	.	A	G	10922.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10839577;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10839577" target="_blank">rs10839577</a>;ExAC.Info.AC=6823;ExAC.Info.AN=24648;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=4519;ExAC.Info.AC_Hom=1063;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln1195Gln/c.3585A>G;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.3585A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.3585A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6561270">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,43:72:99:1445,0,811:127	0/1:60,55:115:99:1711,0,1732:127	0/1:43,50:93:99:1484,0,1156:127
11	6567895	.	C	CTGCCCTACTGCA	24435.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=211;MQ=70.04;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11270441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11270441" target="_blank">rs11270441</a>;ExAC.Info.AC=26424;ExAC.Info.AN=27302;ExAC.Info.AF=0.968;ExAC.Info.AC_Het=33;ExAC.Info.AC_Hom=12183;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=gct/gcTGCCCTACTGCAt;snpeff.Amino_Acid_Change=p.Ala1909_Ala1910insAlaAlaLeuLeuHis/c.5727_5728insTGCCCTACTGCA;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.5737_5738insATGCCCTACTGC_p.Leu1912_Arg1913insHisAlaLeuLeu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.5737_5738insATGCCCTACTGC+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6567895">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2724,185,0:127	1|1:0,94:94:99:4333,292,0:127	1|1:0,64:64:99:2977,200,0:127
11	6569896	.	G	A	4215.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11606889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11606889" target="_blank">rs11606889</a>;ExAC.Info.AC=4513;ExAC.Info.AN=25732;ExAC.Info.AF=0.175;ExAC.Info.AC_Het=3446;ExAC.Info.AC_Hom=473;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val2374Met/c.7120G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.7120G>A_p.Val2374Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.7120G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6569896">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,21:36:99:580,0,390:123	0|0:57,0:57:99:0,171,2131:123	1|1:0,41:41:99:1368,123,0:123
11	6578004	.	G	A	2106.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11600179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11600179" target="_blank">rs11600179</a>;ExAC.Info.AC=3645;ExAC.Info.AN=26244;ExAC.Info.AF=0.139;ExAC.Info.AC_Het=2713;ExAC.Info.AC_Hom=354;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr2493Thr/c.7479G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.7479G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.7479G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6578004">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,336,3847:127	0|0:133,0:133:99:0,400,4705:127	0|1:56,36:92:99:1072,0,1663:127
11	6579106	.	C	A	3366.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11040920;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11040920" target="_blank">rs11040920</a>;ExAC.Info.AC=7140;ExAC.Info.AN=25066;ExAC.Info.AF=0.285;ExAC.Info.AC_Het=4900;ExAC.Info.AC_Hom=1132;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Aac;snpeff.Amino_Acid_Change=p.His2861Asn/c.8581C>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.8581C>A_p.His2861Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.8581C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6579106">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,271,3109:127	0|1:60,58:118:99:1702,0,1863:127	0|0:121,1:122:99:0,360,4416:127
11	6579354	.	G	C	6655.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs16915382;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16915382" target="_blank">rs16915382</a>;ExAC.Info.AC=4613;ExAC.Info.AN=26210;ExAC.Info.AF=0.176;ExAC.Info.AC_Het=3227;ExAC.Info.AC_Hom=573;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu2943Leu/c.8829G>C;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.8829G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.8829G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6579354">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,37:89:99:1099,0,1555:127	0|0:89,0:89:99:0,267,3194:127	1|0:36,50:86:99:1453,0,1097:127
11	6580495	.	G	A	4858.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72901756;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72901756" target="_blank">rs72901756</a>;ExAC.Info.AC=2868;ExAC.Info.AN=27260;ExAC.Info.AF=0.105;ExAC.Info.AC_Het=2326;ExAC.Info.AC_Hom=204;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln3167Gln/c.9501G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.9501G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.9501G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6580495">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,36:73:99:930,0,1007:127	0|0:88,0:88:99:0,264,3098:127	1|0:34,26:60:99:720,0,1056:127
11	6584184	.	G	A	942.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72901769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72901769" target="_blank">rs72901769</a>;ExAC.Info.AC=391;ExAC.Info.AN=26444;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=343;ExAC.Info.AC_Hom=3;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9520-28G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.9520-28G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.9520-28G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6584184">View</a>	GT:AD:DP:GQ:PL:TP	0|0:27,0:27:81:0,81,1022:80	0|0:33,0:33:99:0,99,1253:80	0|1:10,16:26:99:490,0,304:80
11	6584554	.	T	G	2044.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs77745918;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77745918" target="_blank">rs77745918</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9670-58T>G;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.9670-58T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.9670-58T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6584554">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2669:127	0|0:110,0:110:99:0,331,3795:127	0|1:35,36:71:99:1041,0,1059:127
11	6584581	.	C	G	1794.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72901772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72901772" target="_blank">rs72901772</a>;ExAC.Info.AC=384;ExAC.Info.AN=26206;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=364;ExAC.Info.AC_Hom=4;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.9670-31C>G;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.9670-31C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.9670-31C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6584581">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2932:127	0|0:107,0:107:99:0,322,3896:127	0|1:31,34:65:99:916,0,966:127
11	6585007	.	G	A	6778.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11040923;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11040923" target="_blank">rs11040923</a>;ExAC.Info.AC=11661;ExAC.Info.AN=24790;ExAC.Info.AF=0.470;ExAC.Info.AC_Het=5189;ExAC.Info.AC_Hom=2949;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp3313Asn/c.9937G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.9937G>A_p.Asp3313Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.9937G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6585007">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,44:76:99:1171,0,870:127	1|0:68,50:118:99:1359,0,1980:127	0|0:72,0:72:99:0,226,2869:127
11	6585032	.	G	A	2470.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=268;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11604232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11604232" target="_blank">rs11604232</a>;ExAC.Info.AC=420;ExAC.Info.AN=25738;ExAC.Info.AF=0.016;ExAC.Info.AC_Het=399;ExAC.Info.AC_Hom=4;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg3321Gln/c.9962G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.9962G>A_p.Arg3321Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.9962G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6585032">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,217,2887:127	0|0:113,0:113:99:0,339,4414:127	0|1:41,42:83:99:1254,0,1230:127
11	6585670	.	C	T	9835.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs16915423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16915423" target="_blank">rs16915423</a>;ExAC.Info.AC=1797;ExAC.Info.AN=26624;ExAC.Info.AF=0.067;ExAC.Info.AC_Het=1477;ExAC.Info.AC_Hom=119;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp3464Asp/c.10392C>T;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.10392C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.10392C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6585670">View</a>	GT:AD:DP:GQ:PL:TP	1|0:69,56:125:99:1619,0,1897:127	0|0:130,1:131:99:0,388,4575:127	1|0:57,66:123:99:1963,0,1667:127
11	6585838	.	G	A	9481.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=442;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11825255;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11825255" target="_blank">rs11825255</a>;ExAC.Info.AC=2756;ExAC.Info.AN=25886;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=1951;ExAC.Info.AC_Hom=352;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln3520Gln/c.10560G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.10560G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.10560G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6585838">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,76:143:99:2041,0,1934:127	0|0:174,1:175:99:0,488,6231:127	1|0:67,57:124:99:1640,0,2060:127
11	6587228	.	G	A	4020.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7947368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7947368" target="_blank">rs7947368</a>;ExAC.Info.AC=3688;ExAC.Info.AN=29208;ExAC.Info.AF=0.126;ExAC.Info.AC_Het=2110;ExAC.Info.AC_Hom=626;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.11053+7G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.11054G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.11053+7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.11053+7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6587228">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,30:62:99:846,0,1153:127	0|0:75,0:75:99:0,226,3027:127	1|0:32,27:59:99:844,0,1109:127
11	6588228	.	G	A	2714.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10769699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769699" target="_blank">rs10769699</a>;ExAC.Info.AC=41210;ExAC.Info.AN=125108;ExAC.Info.AF=0.329;ExAC.Info.AC_Het=26566;ExAC.Info.AC_Hom=7283;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg3830His/c.11489G>A;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.11489G>A_p.Arg3830His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.11489G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6588228">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,1:112:99:0,296,3694:127	0|1:65,53:118:99:1376,0,1901:127	0|0:132,0:132:99:0,396,4339:127
11	6588553	.	C	T	5463.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56313830;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56313830" target="_blank">rs56313830</a>;ExAC.Info.AC=11158;ExAC.Info.AN=125244;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=8420;ExAC.Info.AC_Hom=1343;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly3938Gly/c.11814C>T;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex36;SAVANT_HGVS=c.11814C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.11814C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6588553">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,38:64:99:1071,0,693:127	0|0:70,0:70:99:0,211,2602:127	1|0:32,36:68:99:1158,0,901:127
11	6592951	.	T	C	1430.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11604362;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11604362" target="_blank">rs11604362</a>;ExAC.Info.AC=631;ExAC.Info.AN=125512;ExAC.Info.AF=5.027e-03;ExAC.Info.AC_Het=609;ExAC.Info.AC_Hom=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile4666Thr/c.13997T>C;snpeff.Amino_Acid_length=4753;snpeff.Gene_Name=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254579;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254579;SAVANT_GENE=DNHD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNHD1" target="_blank">DNHD1</a>;SAVANT_INFO=+/74.7kb/43/14.9kb;SAVANT_LOC=Ex43;SAVANT_HGVS=c.13997T>C_p.Ile4666Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNHD1+c.13997T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6592951">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1232:104	0|0:72,0:72:99:0,216,2395:104	0|1:24,28:52:99:734,0,651:104
11	6621516	.	G	A	1938.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11040933;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11040933" target="_blank">rs11040933</a>;ExAC.Info.AC=38999;ExAC.Info.AN=126550;ExAC.Info.AF=0.308;ExAC.Info.AC_Het=25108;ExAC.Info.AC_Hom=6466;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1252-21C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254605;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1252G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254605;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1252G>A;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254605;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254605;SAVANT_GENE=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;SAVANT_INFO=-/8.5kb/7/6.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1252-21C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP8+c.1252-21C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6621516">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1651:125	0|1:27,37:64:99:988,0,732:125	0|0:42,0:42:99:0,126,1487:125
11	6621916	.	A	G	1428.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11603397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11603397" target="_blank">rs11603397</a>;ExAC.Info.AC=652;ExAC.Info.AN=126704;ExAC.Info.AF=5.146e-03;ExAC.Info.AC_Het=647;ExAC.Info.AC_Hom=2;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1137A>G;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254605;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn379Asn/c.1137T>C;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254605;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254605;SAVANT_GENE=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;SAVANT_INFO=-/8.5kb/7/6.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1137T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP8+c.1137T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6621916">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1087:101	0|0:52,0:52:99:0,156,1792:101	0|1:22,28:50:99:733,0,582:101
11	6622714	.	G	A	13919.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2288283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2288283" target="_blank">rs2288283</a>;ExAC.Info.AC=103803;ExAC.Info.AN=126702;ExAC.Info.AF=0.819;ExAC.Info.AC_Het=16958;ExAC.Info.AC_Hom=43346;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn194Asn/c.582C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254605;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254605;SAVANT_GENE=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;SAVANT_INFO=-/8.5kb/7/6.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.582C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP8+c.582C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6622714">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1456,132,0:127	1|1:0,70:70:99:2402,210,0:127	1|1:0,53:53:99:1868,159,0:127
11	6622857	.	G	A	2183.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11826421;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11826421" target="_blank">rs11826421</a>;ExAC.Info.AC=61949;ExAC.Info.AN=126598;ExAC.Info.AF=0.489;ExAC.Info.AC_Het=28463;ExAC.Info.AC_Hom=15629;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.464-25C>T;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254605;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254605;SAVANT_GENE=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;SAVANT_INFO=-/8.5kb/7/6.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.464-25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP8+c.464-25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6622857">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,12:27:99:286,0,500:93	1|0:25,19:44:99:471,0,805:93	0|0:31,0:31:93:0,93,1136:93
11	6624617	.	T	C	4304.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12420389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12420389" target="_blank">rs12420389</a>;ExAC.Info.AC=32604;ExAC.Info.AN=125198;ExAC.Info.AF=0.260;ExAC.Info.AC_Het=18072;ExAC.Info.AC_Hom=3740;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.99+17A>G;snpeff.Amino_Acid_length=456;snpeff.Gene_Name=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254605;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000254605;SAVANT_GENE=RRP8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8" target="_blank">RRP8</a>;SAVANT_INFO=-/8.5kb/7/6.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.99+17A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRP8+c.99+17A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6624617">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,25:42:99:727,0,422:127	0|0:47,1:48:99:0,134,1696:127	1|0:19,22:41:99:648,0,499:127
11	6625566	.	A	G	4480.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs114115159;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114115159" target="_blank">rs114115159</a>;ExAC.Info.AC=181;ExAC.Info.AN=126608;ExAC.Info.AF=1.430e-03;ExAC.Info.AC_Het=170;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.85T>C;snpeff.Gene_Name=RP11-732A19.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A198" target="_blank">RP11-732A198</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527191;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAc/aGc;snpeff.Amino_Acid_Change=p.Asn22Ser/c.65A>G;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=ILK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A198" target="_blank">RP11-732A198</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396751;SAVANT_GENE=ILK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILK" target="_blank">ILK</a>;SAVANT_INFO=+/7.1kb/12/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.65A>G_p.Asn22Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ILK+c.65A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6625566">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,376,4110:127	0|1:88,75:163:99:2259,0,2525:127	0|0:93,1:94:99:0,273,3184:127
11	6630028	.	TC	T	41435.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=547;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11314683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11314683" target="_blank">rs11314683</a>;ExAC.Info.AC=126703;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=63343;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TAF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.448+9delC;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=ILK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.370+39delG;snpeff.Gene_Name=RP11-732A19.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527398;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000396751;SAVANT_GENE=ILK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILK" target="_blank">ILK</a>;SAVANT_INFO=+/7.1kb/12/2.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.448+13delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ILK+c.448+13delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6630028">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:5551,512,0:127	1|1:0,212:212:99:6922,638,0:127	1|1:0,166:166:99:5409,499,0:127
11	6630410	.	T	C	8205.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=404;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11826498;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11826498" target="_blank">rs11826498</a>;ExAC.Info.AC=26445;ExAC.Info.AN=126704;ExAC.Info.AF=0.209;ExAC.Info.AC_Het=20238;ExAC.Info.AC_Hom=3094;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TAF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.618+23T>C;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=ILK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.229-201A>G;snpeff.Gene_Name=RP11-732A19.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527398;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396751;SAVANT_GENE=ILK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILK" target="_blank">ILK</a>;SAVANT_INFO=+/7.1kb/12/2.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.618+23T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ILK+c.618+23T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6630410">View</a>	GT:AD:DP:GQ:PL:TP	1|0:78,58:136:99:1557,0,2058:127	0|0:157,0:157:99:0,472,5260:127	1|0:69,42:111:99:1205,0,1941:127
11	6631016	.	C	T	7429.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2292195;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292195" target="_blank">rs2292195</a>;ExAC.Info.AC=28891;ExAC.Info.AN=126704;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=21848;ExAC.Info.AC_Hom=3519;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TAF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.228+123G>A;snpeff.Gene_Name=RP11-732A19.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527398;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala306Ala/c.918C>T;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=ILK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299421;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396751;SAVANT_GENE=ILK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILK" target="_blank">ILK</a>;SAVANT_INFO=+/7.1kb/12/2.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.918C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ILK+c.918C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6631016">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,46:107:99:1243,0,1836:127	0|0:154,0:154:99:0,462,5591:127	1|0:58,45:103:99:1301,0,1824:127
11	6632450	.	C	T	3785.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12451" target="_blank">rs12451</a>;ExAC.Info.AC=26698;ExAC.Info.AN=126700;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20681;ExAC.Info.AC_Hom=2989;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr179Thr/c.537G>A;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=TAF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299424;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299424;SAVANT_GENE=TAF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;SAVANT_INFO=-/1.8kb/5/1.2kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.537G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF10+c.537G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6632450">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,23:38:99:670,0,428:127	0|0:51,0:51:99:0,153,1954:127	1|0:25,26:51:99:805,0,769:127
11	6632857	.	A	T	4748.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=123;MQ=69.94;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1876300;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1876300" target="_blank">rs1876300</a>;ExAC.Info.AC=56490;ExAC.Info.AN=126410;ExAC.Info.AF=0.447;ExAC.Info.AC_Het=28450;ExAC.Info.AC_Hom=12326;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.387+38T>A;snpeff.Amino_Acid_length=218;snpeff.Gene_Name=TAF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299424;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299424;SAVANT_GENE=TAF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF10" target="_blank">TAF10</a>;SAVANT_INFO=-/1.8kb/5/1.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.387+38T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TAF10+c.387+38T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6632857">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,14:29:99:371,0,392:127	0/1:18,28:46:99:669,0,465:127	0/1:19,29:48:99:768,0,502:127
11	6636106	.	T	A	738.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_2|_204500_(3);dbSNP139.ID=rs1128396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1128396" target="_blank">rs1128396</a>;ExAC.Info.AC=24384;ExAC.Info.AN=126702;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=19401;ExAC.Info.AC_Hom=2488;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118652;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1542T>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1542T>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1542T>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1542T>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1542T>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1542T>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggT;snpeff.Amino_Acid_Change=p.Gly514Gly/c.1542A>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299427;SAVANT_GENE=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;SAVANT_INFO=-/6.7kb/13/3.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1542A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPP1+c.1542A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6636106">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118652" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,816:71	0|0:32,0:32:96:0,96,1151:71	0|1:16,15:31:99:388,0,472:71
11	6636300	.	A	G	4499.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_2|_204500_(3);dbSNP139.ID=rs1800723;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800723" target="_blank">rs1800723</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1426-78T>C;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1426A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1426A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1426A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1426A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1426A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1426A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1426A>G;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299427;SAVANT_GENE=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;SAVANT_INFO=-/6.7kb/13/3.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1426-78T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPP1+c.1426-78T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6636300">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,27:48:99:754,0,561:127	0|0:64,0:64:99:0,192,2390:127	1|0:26,32:58:99:1018,0,750:127
11	6636811	.	C	T	748.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_2|_204500_(3);dbSNP139.ID=rs72909098;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72909098" target="_blank">rs72909098</a>;ExAC.Info.AC=1;ExAC.Info.AN=126688;ExAC.Info.AF=7.893e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1146-18G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1146C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299427;SAVANT_GENE=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;SAVANT_INFO=-/6.7kb/13/3.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1146-18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPP1+c.1146-18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6636811">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1462:113	0|0:47,0:47:99:0,141,1843:113	0|1:24,15:39:99:393,0,828:113
11	6637739	.	ATTT	A	4210.07	PASS	InGeneList;InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=102;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=./.;NA12892_GT=./1;NA12891_GT=./1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_2|_204500_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.887-8_887-6delAAA;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887_889delTTT;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887_889delTTT;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887_889delAAA;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000299427;SAVANT_GENE=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;SAVANT_INFO=-/6.7kb/13/3.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.887-8_887-6delAAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPP1+c.887-8_887-6delAAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6637739">View</a>	GT:AD:DP:GQ:PL	./.:3,11:31:6:471,167,699	./1:3,16:42:26:695,211,787	./1:0,16:29:99:692,185,281
11	6637739	.	ATTT	AT	4210.07	PASS	InGeneList;InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=102;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./.;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_2|_204500_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.887-8_887-7delAA;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887_888delTT;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887_888delTT;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887_888delAA;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000299427;SAVANT_GENE=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;SAVANT_INFO=-/6.7kb/13/3.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.887-7_887-6delAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPP1+c.887-7_887-6delAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6637739">View</a>	GT:AD:DP:GQ:PL	./1:3,13:31:6:471,6,143	./.:3,11:42:26:695,184,291	./1:0,10:29:99:692,214,169
11	6637739	.	ATTT	ATT	4210.07	PASS	InGeneList;InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=102;MQ=70.02;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./.;NA12891_GT=./1;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_2|_204500_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.887-8delA;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887delT;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887delT;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887delA;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000299427;SAVANT_GENE=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;SAVANT_INFO=-/6.7kb/13/3.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.887-6delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPP1+c.887-6delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6637739">View</a>	GT:AD:DP:GQ:PL	./1:3,4:31:6:471,284,274	./1:3,12:42:26:695,330,287	./.:0,3:29:99:692,515,455
11	6638385	.	C	T	11149.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=437;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_2|_204500_(3);dbNSFPv2.8.MutationtasterPred=D;dbSNP139.ID=rs56144125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56144125" target="_blank">rs56144125</a>;hgmd_2014.2.CLASS=DM;hgmd_2014.2.PHEN=Neuronal_ceroid_lipofuscinosis|_late_infantile;hgmd_2014.2.OMIM_ID=607998;hgmd_2014.2.PubMed=10330339;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10330339" target="_blank">10330339</a>;ExAC.Info.AC=4;ExAC.Info.AN=126704;ExAC.Info.AF=3.157e-05;ExAC.Info.AC_Het=47;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.509-1G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509C>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.509G>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;LOF=(TPP1|ENSG00000166340|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000299427;SAVANT_GENE=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;SAVANT_INFO=-/6.7kb/13/3.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.509-1G>A;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=ESS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPP1+c.509-1G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6638385">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,75:131:99:2032,0,1513:127	1|0:88,88:176:99:2407,0,2605:127	0|0:130,0:130:99:0,391,4527:127
11	6638506	.	A	T	4475.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Ceroid_lipofuscinosis|_neuronal|_2|_204500_(3);dbSNP139.ID=rs1800738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800738" target="_blank">rs1800738</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.508+26T>A;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide:Removed_in_mature_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=563;snpeff.Gene_Name=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299427;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299427;SAVANT_GENE=TPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1" target="_blank">TPP1</a>;SAVANT_INFO=-/6.7kb/13/3.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.508+26T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPP1+c.508+26T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6638506">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,23:53:99:668,0,898:127	1|0:25,35:60:99:1036,0,718:127	0|0:58,0:58:99:0,174,1933:127
11	6643976	.	C	T	5175.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs7122587;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7122587" target="_blank">rs7122587</a>;ExAC.Info.AC=22301;ExAC.Info.AN=125154;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=12653;ExAC.Info.AC_Hom=1541;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8931C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln2977Gln/c.8931G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.8931G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.8931G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6643976">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,32:58:99:865,0,666:127	0|0:55,0:55:99:0,165,2000:127	1|0:34,31:65:99:889,0,1059:127
11	6644600	.	C	T	6936.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs72911011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72911011" target="_blank">rs72911011</a>;ExAC.Info.AC=20700;ExAC.Info.AN=126022;ExAC.Info.AF=0.164;ExAC.Info.AC_Het=13744;ExAC.Info.AC_Hom=1437;snpeff.Effect=sequence_feature[domain:Cadherin_26];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8307C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala2769Ala/c.8307G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.8307G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.8307G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6644600">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,45:96:99:1146,0,1444:127	0|0:117,0:117:99:0,352,4026:127	1|0:48,48:96:99:1334,0,1385:127
11	6644801	.	A	C	4880.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72911012;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72911012" target="_blank">rs72911012</a>;ExAC.Info.AC=6;ExAC.Info.AN=126486;ExAC.Info.AF=4.744e-05;ExAC.Info.AC_Het=7;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:Cadherin_25];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8106A>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caT/caG;snpeff.Amino_Acid_Change=p.His2702Gln/c.8106T>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.8106T>G_p.His2702Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.8106T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6644801">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,23:44:99:624,0,565:127	1|0:23,36:59:99:1080,0,644:127	0|0:55,0:55:99:0,165,1845:127
11	6645522	.	C	T	1692.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs117140835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=117140835" target="_blank">rs117140835</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=1514;ExAC.Info.AN=125890;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1209;ExAC.Info.AC_Hom=8;snpeff.Effect=sequence_feature[domain:Cadherin_23];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_23];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_23];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" 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target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" 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target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7385C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg2462Gln/c.7385G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.7385G>A_p.Arg2462Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.7385G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6645522">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1547:127	0|1:28,29:57:99:865,0,866:127	0|0:50,0:50:99:0,150,1852:127
11	6646108	.	T	C	1622.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs10458926;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10458926" target="_blank">rs10458926</a>;ExAC.Info.AC=23320;ExAC.Info.AN=126410;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=18641;ExAC.Info.AC_Hom=2215;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7147-9A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_23];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_23];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_23];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7147T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.7147-9A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.7147-9A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6646108">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1329:114	0|0:60,0:60:99:0,180,2139:114	0|1:23,31:54:99:830,0,647:114
11	6647622	.	T	C	6326.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs11827437;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11827437" target="_blank">rs11827437</a>;ExAC.Info.AC=45984;ExAC.Info.AN=126370;ExAC.Info.AF=0.364;ExAC.Info.AC_Het=28502;ExAC.Info.AC_Hom=8041;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6365-11A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6365T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.6365-11A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.6365-11A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6647622">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,18:46:99:535,0,727:127	0|0:66,0:66:99:0,198,2194:127	1|1:0,55:55:99:2021,165,0:127
11	6647931	.	C	T	11856.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs34782445;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34782445" target="_blank">rs34782445</a>;ExAC.Info.AC=45787;ExAC.Info.AN=126386;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=29026;ExAC.Info.AC_Hom=8440;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6251-35G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.6251-35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.6251-35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6647931">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,47:91:99:1342,0,1296:127	0|0:145,0:145:99:0,436,5237:127	1|1:0,101:101:99:3625,304,0:127
11	6647978	.	C	T	14691.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=422;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs4442534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4442534" target="_blank">rs4442534</a>;ExAC.Info.AC=45722;ExAC.Info.AN=126370;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=28748;ExAC.Info.AC_Hom=8308;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6250+42G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_20];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.6251C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.6250+42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.6250+42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6647978">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,56:126:99:1453,0,1817:127	0|0:159,1:160:99:0,470,5394:127	1|1:0,136:136:99:4727,409,0:127
11	6648424	.	G	A	6720.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4758443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758443" target="_blank">rs4758443</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=44693;ExAC.Info.AN=126264;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=27986;ExAC.Info.AC_Hom=8128;snpeff.Effect=sequence_feature[domain:Cadherin_18];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5846G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr1949Met/c.5846C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.5846C>T_p.Thr1949Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.5846C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6648424">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,31:57:99:925,0,801:127	0|0:59,0:59:99:0,177,2175:127	1|1:0,63:63:99:2098,189,0:127
11	6648937	.	C	T	3528.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs11040937;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11040937" target="_blank">rs11040937</a>;ExAC.Info.AC=44017;ExAC.Info.AN=124966;ExAC.Info.AF=0.352;ExAC.Info.AC_Het=25694;ExAC.Info.AC_Hom=7298;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5372-39G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_17];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5372C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.5372-39G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.5372-39G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6648937">View</a>	GT:AD:DP:GQ:PL:TP	1|0:19,15:34:99:390,0,561:80	0|0:40,0:40:99:0,120,1405:80	1|1:0,27:27:81:963,81,0:80
11	6651810	.	A	G	10178.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs2659872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2659872" target="_blank">rs2659872</a>;ExAC.Info.AC=35766;ExAC.Info.AN=100512;ExAC.Info.AF=0.356;ExAC.Info.AC_Het=7344;ExAC.Info.AC_Hom=2718;snpeff.Effect=sequence_feature[domain:Cadherin_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4215A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu1405Leu/c.4215T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.4215T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.4215T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6651810">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,22:42:99:732,0,428:127	0|1:25,39:64:99:1211,0,669:127	1|1:0,58:58:99:2105,174,0:127
11	6652618	.	C	T	14712.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=450;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs2659871;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2659871" target="_blank">rs2659871</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=52440;ExAC.Info.AN=126404;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=30461;ExAC.Info.AC_Hom=10971;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.168C>T;snpeff.Gene_Name=RP11-732A19.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_12];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3696C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro1232Pro/c.3696G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.3696G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.3696G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6652618">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,93:159:99:2664,0,1752:127	0|0:180,0:180:99:0,541,6003:127	1|1:0,111:111:99:4011,334,0:127
11	6654613	.	A	G	5079.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs11040938;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11040938" target="_blank">rs11040938</a>;ExAC.Info.AC=28109;ExAC.Info.AN=86140;ExAC.Info.AF=0.326;ExAC.Info.AC_Het=5786;ExAC.Info.AC_Hom=2784;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2455+30T>C;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.211-1550A>G;snpeff.Gene_Name=RP11-732A19.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_8];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2456A>G;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.2455+30T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.2455+30T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6654613">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:443,36,0:47	1|1:0,16:16:48:615,48,0:47	1|1:0,27:27:81:974,81,0:47
11	6655332	.	T	A	38869.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=636;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs2659869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2659869" target="_blank">rs2659869</a>;ExAC.Info.AC=48437;ExAC.Info.AN=126328;ExAC.Info.AF=0.383;ExAC.Info.AC_Het=29101;ExAC.Info.AC_Hom=9135;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1986+17A>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.211-831T>A;snpeff.Gene_Name=RP11-732A19.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" 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target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1987T>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1986+17A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.1986+17A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6655332">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,192:192:99:6456,577,0:127	1|0:143,124:267:99:3552,0,4217:127	1|1:0,177:177:99:6365,532,0:127
11	6655433	.	G	A	25593.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Van_Maldergem_syndrome_1|_601390_(3);dbSNP139.ID=rs997263;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=997263" target="_blank">rs997263</a>;ExAC.Info.AC=47370;ExAC.Info.AN=126412;ExAC.Info.AF=0.375;ExAC.Info.AC_Het=29604;ExAC.Info.AC_Hom=8861;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.211-730G>A;snpeff.Gene_Name=RP11-732A19.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Cadherin_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" 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target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" 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target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1902G>A;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His634His/c.1902C>T;snpeff.Amino_Acid_length=3298;snpeff.Gene_Name=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-732A196" target="_blank">RP11-732A196</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299441;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299441;SAVANT_GENE=DCHS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCHS1" target="_blank">DCHS1</a>;SAVANT_INFO=-/34.5kb/21/10.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1902C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCHS1+c.1902C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6655433">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,134:134:99:4387,403,0:127	1|0:81,79:160:99:2197,0,2596:127	1|1:0,117:117:99:4077,352,0:127
11	6703892	.	T	G	5902.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs1567135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1567135" target="_blank">rs1567135</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.243+86A>C;snpeff.Amino_Acid_length=175;snpeff.Gene_Name=MRPL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL17" target="_blank">MRPL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288937;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000288937;SAVANT_GENE=MRPL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL17" target="_blank">MRPL17</a>;SAVANT_INFO=-/2.6kb/3/2.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.243+86A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL17+c.243+86A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6703892">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1322,117,0:116	1|0:37,14:51:99:348,0,1068:116	1|0:18,14:32:99:480,0,504:116
11	6704051	.	G	A	1962.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs16917042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16917042" target="_blank">rs16917042</a>;ExAC.Info.AC=8686;ExAC.Info.AN=126698;ExAC.Info.AF=0.069;ExAC.Info.AC_Het=7928;ExAC.Info.AC_Hom=374;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.175-5C>T;snpeff.Amino_Acid_length=175;snpeff.Gene_Name=MRPL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL17" target="_blank">MRPL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288937;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175G>A;snpeff.Amino_Acid_length=175;snpeff.Gene_Name=MRPL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL17" target="_blank">MRPL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288937;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175G>A;snpeff.Amino_Acid_length=175;snpeff.Gene_Name=MRPL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL17" target="_blank">MRPL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288937;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175C>T;snpeff.Amino_Acid_length=175;snpeff.Gene_Name=MRPL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL17" target="_blank">MRPL17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288937;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000288937;SAVANT_GENE=MRPL17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRPL17" target="_blank">MRPL17</a>;SAVANT_INFO=-/2.6kb/3/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.175-5C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRPL17+c.175-5C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6704051">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1415:101	0|1:32,36:68:99:1000,0,873:101	0|0:34,0:34:99:0,102,1326:101
11	6735835	.	C	T	2760.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7951709;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7951709" target="_blank">rs7951709</a>;ExAC.Info.AC=1631;ExAC.Info.AN=16920;ExAC.Info.AF=0.096;ExAC.Info.AC_Het=668;ExAC.Info.AC_Hom=58;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.7370G>A;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6735835">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,276,3131:127	0|1:53,50:103:99:1399,0,1705:127	0|0:86,0:86:99:0,259,3346:127
11	6735869	.	A	G	3262.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7937911;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7937911" target="_blank">rs7937911</a>;ExAC.Info.AC=3978;ExAC.Info.AN=16674;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=2397;ExAC.Info.AC_Hom=528;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.7336T>C;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6735869">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,345,3767:127	0|0:125,0:125:99:0,376,4346:127	0|1:63,57:120:99:1650,0,1986:127
11	6736784	.	C	T	5028.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=479;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61735337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61735337" target="_blank">rs61735337</a>;ExAC.Info.AC=1974;ExAC.Info.AN=17578;ExAC.Info.AF=0.112;ExAC.Info.AC_Het=1571;ExAC.Info.AC_Hom=129;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.6421G>A;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6736784">View</a>	GT:AD:DP:GQ:PL:TP	0|0:149,0:149:99:0,448,5171:127	0|1:78,81:159:99:2533,0,2362:127	0|0:171,0:171:99:0,513,5797:127
11	6737974	.	A	G	5016.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=550;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72899780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72899780" target="_blank">rs72899780</a>;ExAC.Info.AC=173;ExAC.Info.AN=22446;ExAC.Info.AF=7.707e-03;ExAC.Info.AC_Het=146;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.5231T>C;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6737974">View</a>	GT:AD:DP:GQ:PL:TP	0|0:169,0:169:99:0,508,5354:127	0|1:96,93:189:99:2526,0,2671:127	0|0:192,0:192:99:0,576,6409:127
11	6738411	.	A	G	4498.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=558;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17262467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17262467" target="_blank">rs17262467</a>;ExAC.Info.AC=2553;ExAC.Info.AN=20452;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=1936;ExAC.Info.AC_Hom=217;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4794T>C;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6738411">View</a>	GT:AD:DP:GQ:PL:TP	0|0:167,0:167:99:0,502,5446:127	0|0:222,0:222:99:0,667,7437:127	0|1:88,81:169:99:2268,0,2387:127
11	6738728	.	T	C	3434.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=497;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs17262495;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17262495" target="_blank">rs17262495</a>;ExAC.Info.AC=5410;ExAC.Info.AN=21508;ExAC.Info.AF=0.252;ExAC.Info.AC_Het=3393;ExAC.Info.AC_Hom=754;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4477A>G;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6738728">View</a>	GT:AD:DP:GQ:PL:TP	0|0:168,0:168:99:0,503,5030:127	0|0:194,0:194:99:0,582,6062:127	0|1:69,66:135:99:1736,0,1847:127
11	6738952	.	G	T	6764.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=691;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10769716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769716" target="_blank">rs10769716</a>;ExAC.Info.AC=4901;ExAC.Info.AN=20204;ExAC.Info.AF=0.243;ExAC.Info.AC_Het=3313;ExAC.Info.AC_Hom=593;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4253C>A;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6738952">View</a>	GT:AD:DP:GQ:PL:TP	0|0:214,0:214:99:0,643,7596:127	0|1:124,125:249:99:3401,0,3725:127	0|0:228,0:228:99:0,684,8181:127
11	6739109	.	G	A	44263.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=714;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7112561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7112561" target="_blank">rs7112561</a>;ExAC.Info.AC=10416;ExAC.Info.AN=20282;ExAC.Info.AF=0.514;ExAC.Info.AC_Het=4158;ExAC.Info.AC_Hom=2760;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.4096C>T;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6739109">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,213:213:99:6970,640,0:127	1|0:123,153:276:99:4419,0,3569:127	1|1:0,225:225:99:7897,676,0:127
11	6739407	.	A	G	24533.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs12284429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12284429" target="_blank">rs12284429</a>;ExAC.Info.AC=10277;ExAC.Info.AN=19796;ExAC.Info.AF=0.519;ExAC.Info.AC_Het=3861;ExAC.Info.AC_Hom=2543;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3798T>C;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6739407">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3671,310,0:127	1|0:70,70:140:99:2210,0,2026:127	1|1:0,127:127:99:4626,382,0:127
11	6739814	.	C	T	57066.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=552;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7114441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7114441" target="_blank">rs7114441</a>;ExAC.Info.AC=15926;ExAC.Info.AN=20184;ExAC.Info.AF=0.789;ExAC.Info.AC_Het=2346;ExAC.Info.AC_Hom=5643;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3391G>A;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6739814">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,189:189:99:8483,584,0:127	1|1:0,198:198:99:8910,611,0:127	1|1:0,165:165:99:7498,518,0:127
11	6739822	.	T	C	57355.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=554;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7102825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7102825" target="_blank">rs7102825</a>;ExAC.Info.AC=13417;ExAC.Info.AN=20654;ExAC.Info.AF=0.650;ExAC.Info.AC_Het=3467;ExAC.Info.AC_Hom=4026;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3383A>G;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6739822">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,186:186:99:8289,563,0:127	1|1:0,204:204:99:9167,629,0:127	1|1:0,164:164:99:7366,506,0:127
11	6739850	.	G	A	6011.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=628;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs58825115;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58825115" target="_blank">rs58825115</a>;ExAC.Info.AC=2381;ExAC.Info.AN=21858;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=1910;ExAC.Info.AC_Hom=151;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.3355C>T;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6739850">View</a>	GT:AD:DP:GQ:PL:TP	0|0:205,0:205:99:0,616,7684:127	0|1:119,114:233:99:3024,0,3743:127	0|0:189,1:190:99:0,543,6885:127
11	6740308	.	C	T	30346.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=624;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs12223353;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12223353" target="_blank">rs12223353</a>;ExAC.Info.AC=7546;ExAC.Info.AN=20422;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=4142;ExAC.Info.AC_Hom=1474;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.2897G>A;snpeff.Gene_Name=GVINP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526769;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GVINP1" target="_blank">GVINP1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=GVINP1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6740308">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,184:184:99:6178,553,0:127	1|0:115,109:224:99:3086,0,3669:127	1|0:118,98:216:99:2745,0,3673:127
11	6789207	.	G	C	7547.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72914876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72914876" target="_blank">rs72914876</a>;ExAC.Info.AC=5146;ExAC.Info.AN=126536;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4709;ExAC.Info.AC_Hom=137;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72914876" target="_blank">rs72914876</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6789207">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,40:103:99:1030,0,1851:127	1|0:51,68:119:99:1822,0,1419:127	0|0:92,0:92:99:0,276,3197:127
11	6790028	.	C	G	1840.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=219;MQ=69.20;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10839616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10839616" target="_blank">rs10839616</a>;ExAC.Info.AC=30015;ExAC.Info.AN=126704;ExAC.Info.AF=0.237;ExAC.Info.AC_Het=21942;ExAC.Info.AC_Hom=4040;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.161C>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2AG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG2" target="_blank">OR2AG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338569;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cCg;snpeff.Amino_Acid_Change=p.Arg54Pro/c.161G>C;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2AG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG2" target="_blank">OR2AG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338569;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338569;SAVANT_GENE=OR2AG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG2" target="_blank">OR2AG2</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.161G>C_p.Arg54Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2AG2+c.161G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6790028">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2124:127	0|1:41,37:78:99:939,0,1148:127	0|0:78,0:78:99:0,234,2631:127
11	6790106	.	T	C	15965.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=215;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7102536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7102536" target="_blank">rs7102536</a>;ExAC.Info.AC=108127;ExAC.Info.AN=126704;ExAC.Info.AF=0.853;ExAC.Info.AC_Het=15617;ExAC.Info.AC_Hom=46246;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83T>C;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2AG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG2" target="_blank">OR2AG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338569;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAt/tGt;snpeff.Amino_Acid_Change=p.Tyr28Cys/c.83A>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2AG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG2" target="_blank">OR2AG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338569;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338569;SAVANT_GENE=OR2AG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG2" target="_blank">OR2AG2</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.83A>G_p.Tyr28Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2AG2+c.83A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6790106">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2174,186,0:127	1|1:0,71:71:99:2676,213,0:127	1|0:34,48:82:99:1339,0,900:127
11	6806827	.	G	T	24266.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=506;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2659880;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2659880" target="_blank">rs2659880</a>;ExAC.Info.AC=34543;ExAC.Info.AN=126704;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=23970;ExAC.Info.AC_Hom=5280;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559G>T;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2AG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG1" target="_blank">OR2AG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307401;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.559G>T;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2AG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG1" target="_blank">OR2AG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307401;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ttg;snpeff.Amino_Acid_Change=p.Val187Leu/c.559G>T;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2AG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG1" target="_blank">OR2AG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307401;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307401;SAVANT_GENE=OR2AG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG1" target="_blank">OR2AG1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.559G>T_p.Val187Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2AG1+c.559G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6806827">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:5275,471,0:127	1|0:97,85:182:99:2308,0,2945:127	1|0:96,71:167:99:1879,0,2780:127
11	6807163	.	C	G	11432.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=192;MQ=69.80;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2659879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2659879" target="_blank">rs2659879</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=35048;ExAC.Info.AN=126696;ExAC.Info.AF=0.277;ExAC.Info.AC_Het=25767;ExAC.Info.AC_Hom=5428;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.895C>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2AG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG1" target="_blank">OR2AG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307401;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Ggg;snpeff.Amino_Acid_Change=p.Arg299Gly/c.895C>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2AG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG1" target="_blank">OR2AG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307401;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307401;SAVANT_GENE=OR2AG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG1" target="_blank">OR2AG1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.895C>G_p.Arg299Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2AG1+c.895C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6807163">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2403,201,0:127	1|0:34,36:70:99:1027,0,1051:127	1|0:27,28:55:99:764,0,913:127
11	6807243	.	G	A	13724.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs497681;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=497681" target="_blank">rs497681</a>;ExAC.Info.AC=72240;ExAC.Info.AN=126460;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=28941;ExAC.Info.AC_Hom=20114;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=24;snpeff.Amino_Acid_Change=c.*24G>A;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR2AG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG1" target="_blank">OR2AG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307401;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307401;SAVANT_GENE=OR2AG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2AG1" target="_blank">OR2AG1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*24G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2AG1+c.*24G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6807243">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2682,264,0:127	1|0:42,25:67:99:665,0,1257:127	1|1:0,61:61:99:2136,183,0:127
11	6816778	.	A	G	38406.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=475;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs866347;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=866347" target="_blank">rs866347</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=92609;ExAC.Info.AN=126704;ExAC.Info.AF=0.731;ExAC.Info.AC_Het=23454;ExAC.Info.AC_Hom=34559;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.162A>G;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=OR6A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6A2" target="_blank">OR6A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332601;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser54Ser/c.162T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=OR6A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6A2" target="_blank">OR6A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332601;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332601;SAVANT_GENE=OR6A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6A2" target="_blank">OR6A2</a>;SAVANT_INFO=-/1.4kb/1/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.162T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6A2+c.162T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6816778">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:5000,445,0:127	1|1:0,173:173:99:5934,518,0:127	1|1:0,154:154:99:5239,463,0:127
11	6816875	.	G	A	2476.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7122644;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7122644" target="_blank">rs7122644</a>;ExAC.Info.AC=37773;ExAC.Info.AN=126702;ExAC.Info.AF=0.298;ExAC.Info.AC_Het=25808;ExAC.Info.AC_Hom=5967;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.65G>A;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=OR6A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6A2" target="_blank">OR6A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332601;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala22Val/c.65C>T;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=OR6A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6A2" target="_blank">OR6A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332601;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332601;SAVANT_GENE=OR6A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR6A2" target="_blank">OR6A2</a>;SAVANT_INFO=-/1.4kb/1/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.65C>T_p.Ala22Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR6A2+c.65C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6816875">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,149,1793:127	0|1:33,41:74:99:1257,0,1065:127	0|0:60,0:60:99:0,180,2315:127
11	6891385	.	G	A	41270.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=699;MQ=69.61;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2741764;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2741764" target="_blank">rs2741764</a>;ExAC.Info.AC=38316;ExAC.Info.AN=126702;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=25706;ExAC.Info.AC_Hom=6303;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=OR10A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A2" target="_blank">OR10A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307322;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=OR10A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A2" target="_blank">OR10A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307322;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala134Thr/c.400G>A;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=OR10A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A2" target="_blank">OR10A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307322;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307322;SAVANT_GENE=OR10A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A2" target="_blank">OR10A2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.400G>A_p.Ala134Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10A2+c.400G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6891385">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,218:218:99:6856,653,0:127	1|1:1,250:251:99:8315,713,0:127	1|0:125,105:230:99:2731,0,3910:127
11	6891605	.	A	G	2936.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=373;MQ=69.71;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10839631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10839631" target="_blank">rs10839631</a>;ExAC.Info.AC=44832;ExAC.Info.AN=126704;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=28482;ExAC.Info.AC_Hom=8172;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.620A>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=OR10A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A2" target="_blank">OR10A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307322;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His207Arg/c.620A>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=OR10A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A2" target="_blank">OR10A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307322;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307322;SAVANT_GENE=OR10A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A2" target="_blank">OR10A2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.620A>G_p.His207Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10A2+c.620A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6891605">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,316,3846:127	0|0:155,0:155:99:0,466,5777:127	0|1:64,49:113:99:1487,0,2086:127
11	6891758	.	A	C	6548.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=792;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7926083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7926083" target="_blank">rs7926083</a>;ExAC.Info.AC=44832;ExAC.Info.AN=126704;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=28478;ExAC.Info.AC_Hom=8172;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.773A>C;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=OR10A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A2" target="_blank">OR10A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307322;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aCg;snpeff.Amino_Acid_Change=p.Lys258Thr/c.773A>C;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=OR10A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A2" target="_blank">OR10A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307322;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307322;SAVANT_GENE=OR10A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A2" target="_blank">OR10A2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.773A>C_p.Lys258Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10A2+c.773A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6891758">View</a>	GT:AD:DP:GQ:PL:TP	0|0:248,0:248:99:0,745,8498:127	0|0:312,0:312:99:0,937,10700:127	0|1:116,116:232:99:3293,0,3429:127
11	6891985	.	A	G	3970.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=548;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72923107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72923107" target="_blank">rs72923107</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72923107" target="_blank">rs72923107</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6891985">View</a>	GT:AD:DP:GQ:PL:TP	0|0:196,0:196:99:0,589,6338:127	0|0:220,0:220:99:0,661,7256:127	0|1:69,63:132:99:2004,0,1919:127
11	6898495	.	T	C	16577.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2595453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2595453" target="_blank">rs2595453</a>;ExAC.Info.AC=5072;ExAC.Info.AN=126704;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=4794;ExAC.Info.AC_Hom=139;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.617T>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR10A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A4" target="_blank">OR10A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379829;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTa/cCa;snpeff.Amino_Acid_Change=p.Leu206Pro/c.617T>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR10A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A4" target="_blank">OR10A4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379829;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379829;SAVANT_GENE=OR10A4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A4" target="_blank">OR10A4</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.617T>C_p.Leu206Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10A4+c.617T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6898495">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3529,280,0:127	1|0:38,63:101:99:2033,0,1053:127	1|0:40,42:82:99:1367,0,1174:127
11	6913127	.	A	G	27930.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2741804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2741804" target="_blank">rs2741804</a>;ExAC.Info.AC=63882;ExAC.Info.AN=126678;ExAC.Info.AF=0.504;ExAC.Info.AC_Het=29748;ExAC.Info.AC_Hom=17003;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.605A>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D2" target="_blank">OR2D2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299459;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met202Thr/c.605T>C;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D2" target="_blank">OR2D2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299459;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299459;SAVANT_GENE=OR2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D2" target="_blank">OR2D2</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.605T>C_p.Met202Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2D2+c.605T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6913127">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:4018,360,0:127	1|1:0,162:162:99:5704,487,0:127	1|0:56,49:105:99:1386,0,1617:127
11	6913243	.	T	C	2806.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1965207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1965207" target="_blank">rs1965207</a>;ExAC.Info.AC=17329;ExAC.Info.AN=126680;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=14700;ExAC.Info.AC_Hom=1298;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.489T>C;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D2" target="_blank">OR2D2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299459;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atA/atG;snpeff.Amino_Acid_Change=p.Ile163Met/c.489A>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D2" target="_blank">OR2D2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299459;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299459;SAVANT_GENE=OR2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D2" target="_blank">OR2D2</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.489A>G_p.Ile163Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2D2+c.489A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6913243">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,231,2663:127	0|0:114,0:114:99:0,343,4215:127	0|1:41,46:87:99:1422,0,1165:127
11	6913244	.	A	G	26042.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1965208;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1965208" target="_blank">rs1965208</a>;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.488A>G;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D2" target="_blank">OR2D2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299459;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile163Thr/c.488T>C;snpeff.Amino_Acid_length=308;snpeff.Gene_Name=OR2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D2" target="_blank">OR2D2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299459;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299459;SAVANT_GENE=OR2D2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D2" target="_blank">OR2D2</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.488T>C_p.Ile163Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2D2+c.488T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6913244">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2786,231,0:127	1|1:0,113:113:99:4425,340,0:127	1|1:0,85:85:99:3520,259,0:127
11	6942476	.	C	A	46358.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=638;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10839658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10839658" target="_blank">rs10839658</a>;ExAC.Info.AC=66526;ExAC.Info.AN=126704;ExAC.Info.AF=0.525;ExAC.Info.AC_Het=29335;ExAC.Info.AC_Hom=18585;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.244C>A;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=OR2D3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D3" target="_blank">OR2D3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317834;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctc/Atc;snpeff.Amino_Acid_Change=p.Leu82Ile/c.244C>A;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=OR2D3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D3" target="_blank">OR2D3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317834;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317834;SAVANT_GENE=OR2D3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D3" target="_blank">OR2D3</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.244C>A_p.Leu82Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2D3+c.244C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6942476">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,210:210:99:6737,631,0:127	1|1:0,238:238:99:7907,715,0:127	1|1:0,190:190:99:6428,570,0:127
11	6942726	.	G	C	3122.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10839659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10839659" target="_blank">rs10839659</a>;ExAC.Info.AC=42358;ExAC.Info.AN=126694;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=27339;ExAC.Info.AC_Hom=7483;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.494G>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=OR2D3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D3" target="_blank">OR2D3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317834;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGg/tCg;snpeff.Amino_Acid_Change=p.Trp165Ser/c.494G>C;snpeff.Amino_Acid_length=330;snpeff.Gene_Name=OR2D3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D3" target="_blank">OR2D3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317834;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317834;SAVANT_GENE=OR2D3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR2D3" target="_blank">OR2D3</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.494G>C_p.Trp165Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR2D3+c.494G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6942726">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,199,2587:127	0|1:39,48:87:99:1580,0,1298:127	0|0:76,0:76:99:0,228,2930:127
11	6953858	.	A	G	3759.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11041108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11041108" target="_blank">rs11041108</a>;ExAC.Info.AC=41543;ExAC.Info.AN=126690;ExAC.Info.AF=0.328;ExAC.Info.AC_Het=26997;ExAC.Info.AC_Hom=7220;snpeff.Effect=sequence_feature[domain:SCAN_box];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ZNF215;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF215" target="_blank">ZNF215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414517;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met119Val/c.355A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ZNF215;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF215" target="_blank">ZNF215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414517;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278319;SAVANT_GENE=ZNF215;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF215" target="_blank">ZNF215</a>;SAVANT_INFO=+/31.4kb/7/3.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.355A>G_p.Met119Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF215+c.355A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6953858">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,330,3467:127	0|1:68,62:130:99:1892,0,1868:127	0|0:146,0:146:99:0,438,4630:127
11	6964926	.	T	G	4509.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs79180154;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79180154" target="_blank">rs79180154</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.712+54T>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ZNF215;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF215" target="_blank">ZNF215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414517;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278319;SAVANT_GENE=ZNF215;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF215" target="_blank">ZNF215</a>;SAVANT_INFO=+/31.4kb/7/3.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.712+54T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF215+c.712+54T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6964926">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,39:73:99:1090,0,828:127	1|0:22,34:56:99:1042,0,609:127	0|0:60,0:60:99:0,180,2030:127
11	6976988	.	A	T	24937.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=961;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2239731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2239731" target="_blank">rs2239731</a>;ExAC.Info.AC=92829;ExAC.Info.AN=126676;ExAC.Info.AF=0.733;ExAC.Info.AC_Het=23945;ExAC.Info.AC_Hom=34293;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggT;snpeff.Amino_Acid_Change=p.Gly260Gly/c.780A>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ZNF215;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF215" target="_blank">ZNF215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414517;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278319;SAVANT_GENE=ZNF215;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF215" target="_blank">ZNF215</a>;SAVANT_INFO=+/31.4kb/7/3.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.780A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF215+c.780A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6976988">View</a>	GT:AD:DP:GQ:PL:TP	0/1:170,126:296:99:3123,0,4295:127	0/1:199,165:364:99:4328,0,5352:127	0/1:154,147:301:99:3952,0,4435:127
11	6977175	.	G	C	9541.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2239730;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2239730" target="_blank">rs2239730</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=24499;ExAC.Info.AN=126646;ExAC.Info.AF=0.193;ExAC.Info.AC_Het=19026;ExAC.Info.AC_Hom=2658;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ctg;snpeff.Amino_Acid_Change=p.Val323Leu/c.967G>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=ZNF215;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF215" target="_blank">ZNF215</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000414517;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278319;SAVANT_GENE=ZNF215;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF215" target="_blank">ZNF215</a>;SAVANT_INFO=+/31.4kb/7/3.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.967G>C_p.Val323Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF215+c.967G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:6977175">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,30:77:99:877,0,1441:127	0/1:60,55:115:99:1848,0,1862:127	0/1:54,45:99:99:1486,0,1807:127
11	7022160	.	A	G	43421.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=577;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2857919;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2857919" target="_blank">rs2857919</a>;ExAC.Info.AC=120581;ExAC.Info.AN=126684;ExAC.Info.AF=0.952;ExAC.Info.AC_Het=5198;ExAC.Info.AC_Hom=57497;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys252Arg/c.754T>C;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=ZNF214;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF214" target="_blank">ZNF214</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536068;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278314;SAVANT_GENE=ZNF214;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF214" target="_blank">ZNF214</a>;SAVANT_INFO=-/21.1kb/3/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.754T>C_p.Cys252Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF214+c.754T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7022160">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,176:176:99:5821,529,0:127	1|1:0,229:229:99:7956,688,0:127	1|1:0,172:172:99:5714,517,0:127
11	7022360	.	A	C	39804.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=793;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2239734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2239734" target="_blank">rs2239734</a>;ExAC.Info.AC=13219;ExAC.Info.AN=126698;ExAC.Info.AF=0.104;ExAC.Info.AC_Het=11569;ExAC.Info.AC_Hom=812;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aGa;snpeff.Amino_Acid_Change=p.Ile185Arg/c.554T>G;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=ZNF214;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF214" target="_blank">ZNF214</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536068;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278314;SAVANT_GENE=ZNF214;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF214" target="_blank">ZNF214</a>;SAVANT_INFO=-/21.1kb/3/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.554T>G_p.Ile185Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF214+c.554T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7022360">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,250:252:99:8661,707,0:127	1|0:170,149:319:99:4557,0,4695:127	1|0:110,112:222:99:3483,0,3080:127
11	7022531	.	A	T	9238.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1156525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1156525" target="_blank">rs1156525</a>;ExAC.Info.AC=79532;ExAC.Info.AN=126692;ExAC.Info.AF=0.628;ExAC.Info.AC_Het=30329;ExAC.Info.AC_Hom=25503;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTc/cAc;snpeff.Amino_Acid_Change=p.Leu128His/c.383T>A;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=ZNF214;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF214" target="_blank">ZNF214</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536068;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278314;SAVANT_GENE=ZNF214;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF214" target="_blank">ZNF214</a>;SAVANT_INFO=-/21.1kb/3/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.383T>A_p.Leu128His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF214+c.383T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7022531">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,366,4325:127	0|1:109,92:201:99:2673,0,3348:127	0|1:90,65:155:99:1966,0,2843:127
11	7022717	.	T	C	8120.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=430;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1156526;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1156526" target="_blank">rs1156526</a>;ExAC.Info.AC=80078;ExAC.Info.AN=126686;ExAC.Info.AF=0.632;ExAC.Info.AC_Het=28508;ExAC.Info.AC_Hom=25685;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.197T>C;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=ZNF214;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF214" target="_blank">ZNF214</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536068;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:KRAB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.197T>C;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=ZNF214;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF214" target="_blank">ZNF214</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536068;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAc/tGc;snpeff.Amino_Acid_Change=p.Tyr66Cys/c.197A>G;snpeff.Amino_Acid_length=606;snpeff.Gene_Name=ZNF214;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF214" target="_blank">ZNF214</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536068;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278314;SAVANT_GENE=ZNF214;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF214" target="_blank">ZNF214</a>;SAVANT_INFO=-/21.1kb/3/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.197A>G_p.Tyr66Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF214+c.197A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7022717">View</a>	GT:AD:DP:GQ:PL:TP	0|0:153,0:153:99:0,459,4638:127	0|1:90,76:166:99:2271,0,2488:127	0|1:56,55:111:99:1809,0,1487:127
11	7059960	.	A	C	43637.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=540;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12801277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12801277" target="_blank">rs12801277</a>;ExAC.Info.AC=125410;ExAC.Info.AN=126702;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=1155;ExAC.Info.AC_Hom=62088;snpeff.Effect=sequence_feature[domain:DAPIN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.143A>C;snpeff.Amino_Acid_length=1093;snpeff.Gene_Name=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299481;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DAPIN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.143A>C;snpeff.Amino_Acid_length=1093;snpeff.Gene_Name=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299481;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aCt;snpeff.Amino_Acid_Change=p.Asn48Thr/c.143A>C;snpeff.Amino_Acid_length=1093;snpeff.Gene_Name=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299481;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299481;SAVANT_GENE=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;SAVANT_INFO=+/50.9kb/12/3.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.143A>C_p.Asn48Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP14+c.143A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7059960">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:5761,472,0:127	1|1:0,226:226:99:7924,679,0:127	1|1:0,157:157:99:5735,472,0:127
11	7063755	.	C	T	69828.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=957;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7123944;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7123944" target="_blank">rs7123944</a>;ExAC.Info.AC=125001;ExAC.Info.AN=126704;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1508;ExAC.Info.AC_Hom=61706;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe166Phe/c.498C>T;snpeff.Amino_Acid_length=1093;snpeff.Gene_Name=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299481;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299481;SAVANT_GENE=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;SAVANT_INFO=+/50.9kb/12/3.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.498C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP14+c.498C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7063755">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,320:320:99:10943,961,0:127	1|1:0,329:329:99:11584,989,0:127	1|1:0,308:308:99:11178,926,0:127
11	7070866	.	G	A	7980.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs1552727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1552727" target="_blank">rs1552727</a>;ExAC.Info.AC=81049;ExAC.Info.AN=126678;ExAC.Info.AF=0.640;ExAC.Info.AC_Het=27629;ExAC.Info.AC_Hom=26588;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2124-36G>A;snpeff.Amino_Acid_length=1093;snpeff.Gene_Name=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299481;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299481;SAVANT_GENE=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;SAVANT_INFO=+/50.9kb/12/3.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.2124-36G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP14+c.2124-36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7070866">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,379,4601:127	0|1:83,68:151:99:1881,0,2555:127	0|1:66,74:140:99:2129,0,1890:127
11	7071031	.	G	A	64830.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=907;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1552726;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1552726" target="_blank">rs1552726</a>;ExAC.Info.AC=124240;ExAC.Info.AN=126702;ExAC.Info.AF=0.981;ExAC.Info.AC_Het=1976;ExAC.Info.AC_Hom=61127;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu751Glu/c.2253G>A;snpeff.Amino_Acid_length=1093;snpeff.Gene_Name=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299481;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299481;SAVANT_GENE=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;SAVANT_INFO=+/50.9kb/12/3.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.2253G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP14+c.2253G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7071031">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,313:313:99:10143,940,0:127	1|1:0,308:308:99:10232,925,0:127	1|1:0,286:286:99:9807,859,0:127
11	7079038	.	G	A	18111.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=955;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10839708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10839708" target="_blank">rs10839708</a>;ExAC.Info.AC=76824;ExAC.Info.AN=126702;ExAC.Info.AF=0.606;ExAC.Info.AC_Het=29112;ExAC.Info.AC_Hom=23839;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu808Lys/c.2422G>A;snpeff.Amino_Acid_length=1093;snpeff.Gene_Name=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299481;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299481;SAVANT_GENE=NLRP14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP14" target="_blank">NLRP14</a>;SAVANT_INFO=+/50.9kb/12/3.6kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.2422G>A_p.Glu808Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP14+c.2422G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7079038">View</a>	GT:AD:DP:GQ:PL:TP	0|0:289,0:289:99:0,868,9967:127	0|1:177,173:350:99:4639,0,5158:127	0|1:159,157:316:99:4381,0,4840:127
11	7110363	.	G	A	10346.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4758158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758158" target="_blank">rs4758158</a>;ExAC.Info.AC=44393;ExAC.Info.AN=126664;ExAC.Info.AF=0.350;ExAC.Info.AC_Het=27695;ExAC.Info.AC_Hom=8125;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala4Ala/c.12G>A;snpeff.Amino_Acid_length=392;snpeff.Gene_Name=RBMXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBMXL2" target="_blank">RBMXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306904;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306904;SAVANT_GENE=RBMXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBMXL2" target="_blank">RBMXL2</a>;SAVANT_INFO=+/2.2kb/1/2.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.12G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBMXL2+c.12G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7110363">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,400,4503:127	0|1:71,105:176:99:3251,0,2053:127	0|1:69,67:136:99:1942,0,1973:127
11	7110751	.	A	G	9790.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11041171;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11041171" target="_blank">rs11041171</a>;ExAC.Info.AC=29816;ExAC.Info.AN=30622;ExAC.Info.AF=0.974;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=169;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg/Gly/Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.400A>G;snpeff.Amino_Acid_length=392;snpeff.Gene_Name=RBMXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBMXL2" target="_blank">RBMXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306904;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acg/Gcg;snpeff.Amino_Acid_Change=p.Thr134Ala/c.400A>G;snpeff.Amino_Acid_length=392;snpeff.Gene_Name=RBMXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBMXL2" target="_blank">RBMXL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000306904;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000306904;SAVANT_GENE=RBMXL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RBMXL2" target="_blank">RBMXL2</a>;SAVANT_INFO=+/2.2kb/1/2.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.400A>G_p.Thr134Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RBMXL2+c.400A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7110751">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1079,90,0:71	1|1:0,47:47:99:1835,141,0:71	1|1:0,24:24:72:895,72,0:71
11	7324475	.	T	C	26548.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4412741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4412741" target="_blank">rs4412741</a>;ExAC.Info.AC=125970;ExAC.Info.AN=126704;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=684;ExAC.Info.AC_Hom=62642;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.351T>C;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp117Asp/c.351T>C;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318881;SAVANT_GENE=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;SAVANT_INFO=+/217.1kb/7/4.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.351T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT9+c.351T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7324475">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:3295,274,0:127	1|1:0,117:117:99:4360,352,0:127	1|1:0,88:88:99:3295,265,0:127
11	7335424	.	C	G	19395.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=695;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2035639;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2035639" target="_blank">rs2035639</a>;ExAC.Info.AC=11446;ExAC.Info.AN=30430;ExAC.Info.AF=0.376;ExAC.Info.AC_Het=3949;ExAC.Info.AC_Hom=1782;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1044+252C>G;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1045C>G;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1045C>G;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1045C>G;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1045C>G;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1045C>G;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1045C>G;snpeff.Amino_Acid_length=491;snpeff.Gene_Name=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318881;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318881;SAVANT_GENE=SYT9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT9" target="_blank">SYT9</a>;SAVANT_INFO=+/217.1kb/7/4.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.1044+252C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT9+c.1044+252C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7335424">View</a>	GT:AD:DP:GQ:PL:TP	0/1:139,104:243:99:2715,0,3949:127	0/1:131,128:259:99:3511,0,3860:127	0/1:101,92:193:99:2602,0,3126:127
11	7570840	.	CT	C	2416.98	PASS	InheritancePattern=unknown;AC=1;AF=0.333;AN=3;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./.;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64+71delT;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.64+86delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.64+86delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7570840">View</a>	GT:AD:DP:GQ:PL	./0:13,12:43:65:240,144,753	0/1:14,26:44:99:427,0,377	./.:3,2:24:89:508,589,1131
11	7570840	.	CT	CTT	2416.98	PASS	InheritancePattern=notInChild;AC=1;AF=0.333;AN=3;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64+72_64+73insT;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.64+86dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.64+86dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7570840">View</a>	GT:AD:DP:GQ:PL	./0:13,6:43:65:240,65,376	./0:14,2:44:99:427,465,1017	./1:3,7:24:89:508,146,138
11	7570840	.	CT	CTTT	2416.98	PASS	InheritancePattern=Normal;AC=2;AF=0.500;AN=4;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=./0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64+72_64+73insTT;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.64+85_64+86dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.64+85_64+86dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7570840">View</a>	GT:AD:DP:GQ:PL	0/1:13,12:43:65:240,0,542	./0:14,2:44:99:427,500,1360	./1:3,12:24:89:508,89,146
11	7614492	.	A	G	11974.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=317;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7115173;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7115173" target="_blank">rs7115173</a>;ExAC.Info.AC=44996;ExAC.Info.AN=126630;ExAC.Info.AF=0.355;ExAC.Info.AC_Het=28276;ExAC.Info.AC_Hom=7857;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.372+37A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.372+37A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.372+37A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7614492">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,48:96:99:1405,0,1285:127	1|1:2,108:110:99:3896,281,0:127	0|0:111,0:111:99:0,334,3800:127
11	7614531	.	C	A	6727.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7129888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7129888" target="_blank">rs7129888</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.372+76C>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373C>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373C>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373C>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373C>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373C>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373C>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.373C>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.372+76C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.372+76C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7614531">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,34:64:99:947,0,903:127	1|1:1,68:69:99:2329,169,0:127	0|0:79,0:79:99:0,237,2846:127
11	7619518	.	T	C	11298.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4758206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758206" target="_blank">rs4758206</a>;ExAC.Info.AC=11515;ExAC.Info.AN=12624;ExAC.Info.AF=0.912;ExAC.Info.AC_Het=753;ExAC.Info.AC_Hom=4507;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.486+614T>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487T>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487T>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487T>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487T>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487T>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487T>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487T>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.486+614T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.486+614T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7619518">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1350,120,0:127	1|1:0,45:45:99:1744,135,0:127	1|1:0,52:52:99:1805,156,0:127
11	7619549	.	G	A	2252.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=81;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs34347748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34347748" target="_blank">rs34347748</a>;ExAC.Info.AC=1072;ExAC.Info.AN=13524;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=708;ExAC.Info.AC_Hom=60;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.486+645G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.487G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.486+645G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.486+645G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7619549">View</a>	GT:AD:DP:GQ:PL:TP	1|0:14,11:25:99:305,0,460:72	0|0:24,0:24:72:0,72,913:72	1|0:13,19:32:99:519,0,367:72
11	7649640	.	C	G	5273.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=435;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs6578886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6578886" target="_blank">rs6578886</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.888+63C>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889C>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889C>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889C>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889C>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889C>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889C>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889C>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.888+63C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.888+63C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7649640">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,1:121:99:0,353,4282:127	0|1:93,86:179:99:2651,0,2998:127	0|0:135,0:135:99:0,406,5048:127
11	7650607	.	A	C	18098.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=414;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs6578887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6578887" target="_blank">rs6578887</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.889-83A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.889-83A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.889-83A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7650607">View</a>	GT:AD:DP:GQ:PL:TP	0|1:81,56:137:99:1543,0,2251:127	1|1:0,149:149:99:5132,447,0:127	0|1:68,60:128:99:1656,0,2097:127
11	7656809	.	G	A	15216.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=435;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11041490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11041490" target="_blank">rs11041490</a>;ExAC.Info.AC=12382;ExAC.Info.AN=126704;ExAC.Info.AF=0.098;ExAC.Info.AC_Het=10690;ExAC.Info.AC_Hom=845;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro407Pro/c.1221G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1221G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.1221G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7656809">View</a>	GT:AD:DP:GQ:PL:TP	0/1:78,74:152:99:2058,0,2113:127	0/1:84,81:165:99:2337,0,2502:127	0/1:49,69:118:99:2082,0,1381:127
11	7661047	.	TCTC	T	6405.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs143023559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=143023559" target="_blank">rs143023559</a>;ExAC.Info.AC=5336;ExAC.Info.AN=126704;ExAC.Info.AF=0.042;ExAC.Info.AC_Het=5021;ExAC.Info.AC_Hom=157;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=tctcct/tct;snpeff.Amino_Acid_Change=p.Ser441_Pro442del/c.1322_1324delCTC;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1326_1328delTCC_p.Pro443del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.1326_1328delTCC+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7661047">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,14:41:99:507,0,1178:127	0|0:67,0:67:99:0,201,3265:127	1|0:22,31:53:99:1236,0,923:127
11	7662732	.	C	T	9907.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs4643071;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4643071" target="_blank">rs4643071</a>;ExAC.Info.AC=83908;ExAC.Info.AN=126696;ExAC.Info.AF=0.662;ExAC.Info.AC_Het=27943;ExAC.Info.AC_Hom=27956;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp466Asp/c.1398C>T;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1398C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.1398C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7662732">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,52:111:99:1344,0,1593:127	0/1:47,52:99:99:1587,0,1397:127	0/1:38,53:91:99:1426,0,1092:127
11	7663726	.	T	C	10897.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4402283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4402283" target="_blank">rs4402283</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1646+69T>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1646+69T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.1646+69T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7663726">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1606,144,0:122	1|1:0,50:50:99:1777,150,0:122	1|1:0,41:41:99:1427,123,0:122
11	7670353	.	A	C	10929.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=316;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4758009;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758009" target="_blank">rs4758009</a>;ExAC.Info.AC=71463;ExAC.Info.AN=126680;ExAC.Info.AF=0.564;ExAC.Info.AC_Het=29825;ExAC.Info.AC_Hom=20581;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1910-25A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1910A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1910A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1910A>C;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1910-25A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.1910-25A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7670353">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,58:95:99:1840,0,1091:127	0/1:62,56:118:99:1673,0,1930:127	0/1:52,51:103:99:1590,0,1611:127
11	7670440	.	A	G	44628.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=567;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4758209;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758209" target="_blank">rs4758209</a>;ExAC.Info.AC=126668;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=36;ExAC.Info.AC_Hom=63303;snpeff.Effect=sequence_feature[domain:SAM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1972A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1972A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1972A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aga/Gga;snpeff.Amino_Acid_Change=p.Arg658Gly/c.1972A>G;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.1972A>G_p.Arg658Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.1972A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7670440">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,168:168:99:5736,505,0:127	1|1:0,209:209:99:6837,627,0:127	1|1:1,189:190:99:6313,530,0:127
11	7672272	.	G	A	2424.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3923491;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3923491" target="_blank">rs3923491</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2247+76G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2248G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2248G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2247+76G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.2247+76G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7672272">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,15:32:99:330,0,514:127	0/1:16,19:35:99:478,0,519:127	0/1:18,10:28:99:270,0,590:127
11	7673015	.	G	A	9732.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs5864;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5864" target="_blank">rs5864</a>;ExAC.Info.AC=83759;ExAC.Info.AN=126704;ExAC.Info.AF=0.661;ExAC.Info.AC_Het=28197;ExAC.Info.AC_Hom=27771;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu792Glu/c.2376G>A;snpeff.Amino_Acid_length=876;snpeff.Gene_Name=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299492;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299492;SAVANT_GENE=PPFIBP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPFIBP2" target="_blank">PPFIBP2</a>;SAVANT_INFO=+/140.0kb/24/3.6kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.2376G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPFIBP2+c.2376G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7673015">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,49:93:99:1409,0,1355:127	0/1:57,60:117:99:1660,0,1730:127	0/1:47,39:86:99:1208,0,1502:127
11	7686584	.	A	T	14732.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=364;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1128627;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1128627" target="_blank">rs1128627</a>;ExAC.Info.AC=40434;ExAC.Info.AN=122996;ExAC.Info.AF=0.329;ExAC.Info.AC_Het=12668;ExAC.Info.AC_Hom=3510;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=21;snpeff.Amino_Acid_Change=c.*21T>A;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533558;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533558;SAVANT_GENE=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;SAVANT_INFO=-/9.1kb/9/1.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*21T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYB5R2+c.*21T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7686584">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,67:123:99:2583,0,2006:127	0/1:78,69:147:99:2578,0,3063:127	0/1:56,38:94:99:1407,0,2179:127
11	7686596	.	G	A	15898.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs13172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13172" target="_blank">rs13172</a>;ExAC.Info.AC=92602;ExAC.Info.AN=125108;ExAC.Info.AF=0.740;ExAC.Info.AC_Het=15102;ExAC.Info.AC_Hom=22059;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=9;snpeff.Amino_Acid_Change=c.*9C>T;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533558;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533558;SAVANT_GENE=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;SAVANT_INFO=-/9.1kb/9/1.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*9C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYB5R2+c.*9C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7686596">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,67:115:99:2698,0,1901:127	0/1:76,70:146:99:2701,0,3186:127	0/1:57,43:100:99:1608,0,2473:127
11	7686602	.	G	GTGTT	15755.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=351;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs16411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16411" target="_blank">rs16411</a>;ExAC.Info.AC=60634;ExAC.Info.AN=125772;ExAC.Info.AF=0.482;ExAC.Info.AC_Het=21411;ExAC.Info.AC_Hom=9712;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=2;snpeff.Amino_Acid_Change=c.*2_*3insAACA;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533558;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000533558;SAVANT_GENE=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;SAVANT_INFO=-/9.1kb/9/1.7kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.830_*2dupAACA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYB5R2+c.830_*2dupAACA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7686602">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,64:110:99:2609,0,1787:127	0/1:76,66:142:99:2617,0,3209:127	0/1:58,41:99:99:1629,0,2485:127
11	7686674	.	T	C	7886.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs13854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=13854" target="_blank">rs13854</a>;ExAC.Info.AC=97241;ExAC.Info.AN=126690;ExAC.Info.AF=0.768;ExAC.Info.AC_Het=21898;ExAC.Info.AC_Hom=36982;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu254Leu/c.762A>G;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533558;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533558;SAVANT_GENE=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;SAVANT_INFO=-/9.1kb/9/1.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.762A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYB5R2+c.762A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7686674">View</a>	GT:AD:DP:GQ:PL:TP	0/1:25,32:57:99:1110,0,617:127	0/1:42,46:88:99:1447,0,1158:127	0/1:38,31:69:99:842,0,1082:127
11	7687715	.	T	C	4015.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12801394;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12801394" target="_blank">rs12801394</a>;ExAC.Info.AC=98161;ExAC.Info.AN=126704;ExAC.Info.AF=0.775;ExAC.Info.AC_Het=21630;ExAC.Info.AC_Hom=38253;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn209Asp/c.625A>G;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533558;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533558;SAVANT_GENE=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;SAVANT_INFO=-/9.1kb/9/1.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.625A>G_p.Asn209Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYB5R2+c.625A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7687715">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,14:29:99:421,0,351:127	0/1:19,34:53:99:945,0,415:127	0/1:26,11:37:99:269,0,780:127
11	7687863	.	C	A	4601.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=124;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs62620008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62620008" target="_blank">rs62620008</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.559-82G>T;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533558;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533558;SAVANT_GENE=CYB5R2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R2" target="_blank">CYB5R2</a>;SAVANT_INFO=-/9.1kb/9/1.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.559-82G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYB5R2+c.559-82G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7687863">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,20:39:99:471,0,620:127	0/1:22,25:47:99:770,0,611:127	0/1:13,25:38:99:742,0,376:127
11	7710877	.	C	T	21130.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=484;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs4503519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4503519" target="_blank">rs4503519</a>;ExAC.Info.AC=7133;ExAC.Info.AN=15754;ExAC.Info.AF=0.453;ExAC.Info.AC_Het=2773;ExAC.Info.AC_Hom=1584;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OVCH2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7710877">View</a>	GT:AD:DP:GQ:PL:TP	0|1:98,68:166:99:1784,0,2670:127	1|1:0,174:174:99:5722,523,0:127	0|1:76,68:144:99:1951,0,1927:127
11	7712471	.	C	T	21970.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=483;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs4509745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4509745" target="_blank">rs4509745</a>;ExAC.Info.AC=65335;ExAC.Info.AN=120840;ExAC.Info.AF=0.541;ExAC.Info.AC_Het=14907;ExAC.Info.AC_Hom=11013;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=tgG/tgA;snpeff.Amino_Acid_Change=p.Trp556*/c.1668G>A;snpeff.Amino_Acid_length=564;snpeff.Gene_Name=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454689;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454689;SAVANT_GENE=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;SAVANT_INFO=-/15.5kb/15/1.7kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1668G>A_p.Trp556X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OVCH2+c.1668G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7712471">View</a>	GT:AD:DP:GQ:PL:TP	0|1:92,59:151:99:1519,0,2609:127	1|1:0,167:167:99:5682,502,0:127	0|1:74,91:165:99:2566,0,2070:127
11	7716855	.	T	A	64905.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=952;MQ=69.14;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4528317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4528317" target="_blank">rs4528317</a>;ExAC.Info.AC=123199;ExAC.Info.AN=124770;ExAC.Info.AF=0.987;ExAC.Info.AC_Het=1387;ExAC.Info.AC_Hom=60818;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Tat;snpeff.Amino_Acid_Change=p.Asn410Tyr/c.1228A>T;snpeff.Amino_Acid_length=564;snpeff.Gene_Name=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454689;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454689;SAVANT_GENE=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;SAVANT_INFO=-/15.5kb/15/1.7kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1228A>T_p.Asn410Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OVCH2+c.1228A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7716855">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,323:323:99:9996,970,0:127	1|1:0,333:333:99:10943,1001,0:127	1|1:0,296:296:99:9845,892,0:127
11	7717219	.	A	T	3342.05	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=46;MQ=69.64;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs111491832;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=111491832" target="_blank">rs111491832</a>;ExAC.Info.AC=12;ExAC.Info.AN=428;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=5;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1171+9T>A;snpeff.Amino_Acid_length=564;snpeff.Gene_Name=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454689;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454689;SAVANT_GENE=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;SAVANT_INFO=-/15.5kb/15/1.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1171+9T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OVCH2+c.1171+9T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7717219">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,9:9:27:326,27,0:52	1|1:0,19:19:57:687,57,0:52	1|1:0,18:18:54:669,54,0:52
11	7721870	.	G	A	24615.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10839849;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10839849" target="_blank">rs10839849</a>;ExAC.Info.AC=114410;ExAC.Info.AN=125016;ExAC.Info.AF=0.915;ExAC.Info.AC_Het=8560;ExAC.Info.AC_Hom=52712;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro292Ser/c.874C>T;snpeff.Amino_Acid_length=564;snpeff.Gene_Name=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454689;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454689;SAVANT_GENE=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;SAVANT_INFO=-/15.5kb/15/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.874C>T_p.Pro292Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OVCH2+c.874C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7721870">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2776,252,0:127	1|1:0,120:120:99:4064,361,0:127	1|1:0,96:96:99:3373,289,0:127
11	7723683	.	G	A	46592.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=590;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4373911;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4373911" target="_blank">rs4373911</a>;ExAC.Info.AC=122388;ExAC.Info.AN=124742;ExAC.Info.AF=0.981;ExAC.Info.AC_Het=1869;ExAC.Info.AC_Hom=59193;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.463+21C>T;snpeff.Amino_Acid_length=564;snpeff.Gene_Name=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454689;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454689;SAVANT_GENE=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;SAVANT_INFO=-/15.5kb/15/1.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.463+21C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OVCH2+c.463+21C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7723683">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,165:165:99:5760,496,0:127	1|1:0,234:234:99:8274,703,0:127	1|1:0,191:191:99:6643,574,0:127
11	7725173	.	G	A	10417.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs3924748;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3924748" target="_blank">rs3924748</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.290+72C>T;snpeff.Amino_Acid_length=564;snpeff.Gene_Name=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454689;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454689;SAVANT_GENE=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;SAVANT_INFO=-/15.5kb/15/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.290+72C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OVCH2+c.290+72C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7725173">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,31:82:99:809,0,1552:127	0|0:153,0:153:99:0,460,5492:127	1|1:0,97:97:99:3376,292,0:127
11	7727872	.	T	C	21507.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=631;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12289558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12289558" target="_blank">rs12289558</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=26652;ExAC.Info.AN=123758;ExAC.Info.AF=0.215;ExAC.Info.AC_Het=14686;ExAC.Info.AC_Hom=2748;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.422+47T>C;snpeff.Gene_Name=RP11-35J10.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-35J104" target="_blank">RP11-35J104</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527443;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.543-1651A>G;snpeff.Gene_Name=RP11-35J10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-35J104" target="_blank">RP11-35J104</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr24Ala/c.70A>G;snpeff.Amino_Acid_length=564;snpeff.Gene_Name=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-35J104" target="_blank">RP11-35J104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454689;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454689;SAVANT_GENE=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;SAVANT_INFO=-/15.5kb/15/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.70A>G_p.Thr24Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OVCH2+c.70A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7727872">View</a>	GT:AD:DP:GQ:PL:TP	1|0:114,95:209:99:2765,0,3174:127	0|0:225,0:225:99:0,676,7906:127	1|1:0,197:197:99:7247,590,0:127
11	7727886	.	C	T	21238.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=584;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7927138;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7927138" target="_blank">rs7927138</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=48203;ExAC.Info.AN=123558;ExAC.Info.AF=0.390;ExAC.Info.AC_Het=21159;ExAC.Info.AC_Hom=7612;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.422+61C>T;snpeff.Gene_Name=RP11-35J10.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-35J104" target="_blank">RP11-35J104</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527443;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.543-1665G>A;snpeff.Gene_Name=RP11-35J10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-35J104" target="_blank">RP11-35J104</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg19Gln/c.56G>A;snpeff.Amino_Acid_length=564;snpeff.Gene_Name=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-35J104" target="_blank">RP11-35J104</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454689;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454689;SAVANT_GENE=OVCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OVCH2" target="_blank">OVCH2</a>;SAVANT_INFO=-/15.5kb/15/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.56G>A_p.Arg19Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OVCH2+c.56G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7727886">View</a>	GT:AD:DP:GQ:PL:TP	0|1:87,96:183:99:2708,0,2487:127	1|1:0,211:211:99:7559,634,0:127	0|0:190,0:190:99:0,571,6758:127
11	7794545	.	C	A	36948.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=478;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1482784;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1482784" target="_blank">rs1482784</a>;ExAC.Info.AC=82240;ExAC.Info.AN=117208;ExAC.Info.AF=0.702;ExAC.Info.AC_Het=8081;ExAC.Info.AC_Hom=11763;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.817G>T;snpeff.Gene_Name=OR5P1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000299512;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-494M8.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.543-68324G>T;snpeff.Gene_Name=RP11-35J10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5P1P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7794545">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,153:153:99:5144,459,0:127	1|1:0,189:189:99:6289,568,0:127	1|1:0,136:136:99:4707,408,0:127
11	7794650	.	G	C	36845.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs371799;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371799" target="_blank">rs371799</a>;ExAC.Info.AC=76774;ExAC.Info.AN=125980;ExAC.Info.AF=0.609;ExAC.Info.AC_Het=22752;ExAC.Info.AC_Hom=20202;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.712C>G;snpeff.Gene_Name=OR5P1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000299512;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-494M8.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.543-68429C>G;snpeff.Gene_Name=RP11-35J10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5P1P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7794650">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4509,376,0:127	1|1:0,152:152:99:5784,457,0:127	1|1:0,159:159:99:5704,477,0:127
11	7794976	.	T	A	39901.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=523;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs980145;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=980145" target="_blank">rs980145</a>;ExAC.Info.AC=84272;ExAC.Info.AN=115978;ExAC.Info.AF=0.727;ExAC.Info.AC_Het=7131;ExAC.Info.AC_Hom=13515;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.386A>T;snpeff.Gene_Name=OR5P1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000299512;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-494M8.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.543-68755A>T;snpeff.Gene_Name=RP11-35J10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P1P" target="_blank">OR5P1P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5P1P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7794976">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,162:162:99:5407,487,0:127	1|1:0,187:187:99:6385,562,0:127	1|1:0,174:174:99:6207,523,0:127
11	7847208	.	T	C	33815.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=401;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1482791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1482791" target="_blank">rs1482791</a>;ExAC.Info.AC=73459;ExAC.Info.AN=126634;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=28277;ExAC.Info.AC_Hom=22589;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-494M8.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.542+53346A>G;snpeff.Gene_Name=RP11-35J10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5P3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328375;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.312T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5P3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328375;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val104Val/c.312A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5P3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328375;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328375;SAVANT_GENE=OR5P3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P3" target="_blank">OR5P3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.312A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5P3+c.312A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7847208">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,141:141:99:5030,424,0:127	1|1:0,160:160:99:5922,481,0:127	1|1:0,100:100:99:3586,300,0:127
11	7847466	.	A	G	22763.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1482792;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1482792" target="_blank">rs1482792</a>;ExAC.Info.AC=114781;ExAC.Info.AN=126228;ExAC.Info.AF=0.909;ExAC.Info.AC_Het=8456;ExAC.Info.AC_Hom=51077;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-494M8.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.542+53088T>C;snpeff.Gene_Name=RP11-35J10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.54A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5P3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328375;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcT/tcC;snpeff.Amino_Acid_Change=p.Ser18Ser/c.54T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5P3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328375;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328375;SAVANT_GENE=OR5P3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P3" target="_blank">OR5P3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.54T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5P3+c.54T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7847466">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:3635,253,0:127	1|1:0,83:83:99:3708,256,0:127	1|1:0,61:61:99:2718,187,0:127
11	7847472	.	C	T	22922.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1482793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1482793" target="_blank">rs1482793</a>;ExAC.Info.AC=73060;ExAC.Info.AN=126172;ExAC.Info.AF=0.579;ExAC.Info.AC_Het=27077;ExAC.Info.AC_Hom=21640;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-494M8.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.542+53082G>A;snpeff.Gene_Name=RP11-35J10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.48C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5P3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328375;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggA;snpeff.Amino_Acid_Change=p.Gly16Gly/c.48G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5P3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328375;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328375;SAVANT_GENE=OR5P3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5P3" target="_blank">OR5P3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.48G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5P3+c.48G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7847472">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:3672,256,0:127	1|1:0,82:82:99:3684,253,0:127	1|1:0,65:65:99:2900,199,0:127
11	7847523	.	T	A	10506.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1482794;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1482794" target="_blank">rs1482794</a>;ExAC.Info.AC=71056;ExAC.Info.AN=123290;ExAC.Info.AF=0.576;ExAC.Info.AC_Het=27410;ExAC.Info.AC_Hom=19995;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-494M8.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.542+53031A>T;snpeff.Gene_Name=RP11-35J10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-494M84" target="_blank">RP11-494M84</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-494M84+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7847523">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1666,159,0:125	1|1:0,56:56:99:1858,168,0:125	1|1:0,42:42:99:1392,126,0:125
11	7871011	.	A	G	49013.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=614;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4758022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758022" target="_blank">rs4758022</a>;ExAC.Info.AC=25516;ExAC.Info.AN=29546;ExAC.Info.AF=0.864;ExAC.Info.AC_Het=1447;ExAC.Info.AC_Hom=7298;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.765A>G;snpeff.Gene_Name=OR5E1P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5E1P" target="_blank">OR5E1P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000305754;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-494M8.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5E1P" target="_blank">OR5E1P</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.542+29543T>C;snpeff.Gene_Name=RP11-35J10.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5E1P" target="_blank">OR5E1P</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527565;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5E1P" target="_blank">OR5E1P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5E1P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7871011">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,202:202:99:6747,606,0:127	1|1:0,229:229:99:8133,688,0:127	1|1:0,183:183:99:6967,550,0:127
11	7949350	.	A	G	36204.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4758258;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758258" target="_blank">rs4758258</a>;ExAC.Info.AC=100346;ExAC.Info.AN=126704;ExAC.Info.AF=0.792;ExAC.Info.AC_Het=20698;ExAC.Info.AC_Hom=39766;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.860A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309838;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu287Pro/c.860T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309838;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309838;SAVANT_GENE=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.860T>C_p.Leu287Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10A6+c.860T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7949350">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:3945,348,0:127	1|1:0,188:188:99:6422,565,0:127	1|1:0,141:141:99:4981,424,0:127
11	7949791	.	A	C	22328.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7933807;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7933807" target="_blank">rs7933807</a>;ExAC.Info.AC=52656;ExAC.Info.AN=126544;ExAC.Info.AF=0.416;ExAC.Info.AC_Het=30387;ExAC.Info.AC_Hom=10987;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.419A>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309838;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.419A>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309838;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTt/gGt;snpeff.Amino_Acid_Change=p.Val140Gly/c.419T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309838;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309838;SAVANT_GENE=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.419T>G_p.Val140Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10A6+c.419T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7949791">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,88:151:99:2804,0,1739:127	0|1:80,92:172:99:3083,0,2464:127	1|1:0,129:129:99:4951,388,0:127
11	7949860	.	G	A	35441.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=879;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7928451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7928451" target="_blank">rs7928451</a>;ExAC.Info.AC=52111;ExAC.Info.AN=126696;ExAC.Info.AF=0.411;ExAC.Info.AC_Het=30339;ExAC.Info.AC_Hom=10844;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.350G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309838;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.350G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309838;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gTa;snpeff.Amino_Acid_Change=p.Ala117Val/c.350C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309838;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309838;SAVANT_GENE=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.350C>T_p.Ala117Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10A6+c.350C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7949860">View</a>	GT:AD:DP:GQ:PL:TP	1|0:120,160:280:99:3955,0,3361:127	0|1:160,161:321:99:4282,0,4620:127	1|1:0,278:278:99:8853,835,0:127
11	7950024	.	A	G	14795.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=662;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12272735;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12272735" target="_blank">rs12272735</a>;ExAC.Info.AC=46129;ExAC.Info.AN=126700;ExAC.Info.AF=0.364;ExAC.Info.AC_Het=28800;ExAC.Info.AC_Hom=8638;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.186A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309838;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttT/ttC;snpeff.Amino_Acid_Change=p.Phe62Phe/c.186T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309838;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309838;SAVANT_GENE=OR10A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A6" target="_blank">OR10A6</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.186T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10A6+c.186T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7950024">View</a>	GT:AD:DP:GQ:PL:TP	0|1:93,94:187:99:2865,0,2541:127	1|0:135,113:248:99:3564,0,3797:127	0|0:227,0:227:99:0,682,7649:127
11	7961130	.	C	T	4221.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4758259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4758259" target="_blank">rs4758259</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=63;snpeff.Amino_Acid_Change=c.-63G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR10A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A3" target="_blank">OR10A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000360759;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000360759;SAVANT_GENE=OR10A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10A3" target="_blank">OR10A3</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-63G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10A3+c.-63G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7961130">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,29:50:99:803,0,679:127	1|0:36,40:76:99:1070,0,1158:127	0|0:51,0:51:99:0,153,1831:127
11	7982094	.	G	A	8351.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs12363522;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12363522" target="_blank">rs12363522</a>;ExAC.Info.AC=4894;ExAC.Info.AN=126702;ExAC.Info.AF=0.039;ExAC.Info.AC_Het=4640;ExAC.Info.AC_Hom=128;snpeff.Effect=sequence_feature[domain:NACHT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1065G>A;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=NLRP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP10" target="_blank">NLRP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328600;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly355Gly/c.1065C>T;snpeff.Amino_Acid_length=655;snpeff.Gene_Name=NLRP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP10" target="_blank">NLRP10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328600;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328600;SAVANT_GENE=NLRP10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NLRP10" target="_blank">NLRP10</a>;SAVANT_INFO=-/4.2kb/2/2.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.1065C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NLRP10+c.1065C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:7982094">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,26:63:99:618,0,1065:127	0|0:91,0:91:99:0,273,3233:127	1|1:0,86:86:99:2889,258,0:127
11	8009015	.	C	T	722.77	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=40;MQ=69.47;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1043738;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1043738" target="_blank">rs1043738</a>;ExAC.Info.AC=2761;ExAC.Info.AN=121440;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2563;ExAC.Info.AC_Hom=49;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cTc;snpeff.Amino_Acid_Change=p.Pro54Leu/c.161C>T;snpeff.Amino_Acid_length=372;snpeff.Gene_Name=EIF3F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3F" target="_blank">EIF3F</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000537635;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533626;SAVANT_GENE=EIF3F;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3F" target="_blank">EIF3F</a>;SAVANT_INFO=+/31.6kb/10/7.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.116C>T_p.Pro39Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF3F+c.116C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8009015">View</a>	GT:AD:DP:GQ:PL:TP	0|0:12,0:12:36:0,36,438:26	0|1:7,12:19:99:380,0,224:26	0|0:9,0:9:27:0,27,357:26
11	8061100	.	C	T	9785.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10769865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769865" target="_blank">rs10769865</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.166G>A;snpeff.Gene_Name=RP11-236J17.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-236J176" target="_blank">RP11-236J176</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526646;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.156-92C>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-236J176" target="_blank">RP11-236J176</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305253;SAVANT_GENE=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;SAVANT_INFO=+/67.5kb/13/6.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.156-92C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUB+c.156-92C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8061100">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,52:52:99:1632,156,0:127	1|0:23,29:52:99:805,0,716:127	1|1:0,47:47:99:1582,141,0:127
11	8103104	.	G	T	12909.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs11041733;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11041733" target="_blank">rs11041733</a>;ExAC.Info.AC=65651;ExAC.Info.AN=123068;ExAC.Info.AF=0.533;ExAC.Info.AC_Het=25753;ExAC.Info.AC_Hom=16615;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.204-8053G>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305253;SAVANT_GENE=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;SAVANT_INFO=+/67.5kb/13/6.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.204-8053G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUB+c.204-8053G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8103104">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:1745,182,0:127	1|0:42,53:95:99:1355,0,1201:127	1|1:0,49:49:99:1482,145,0:127
11	8115762	.	C	G	9257.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7396690;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7396690" target="_blank">rs7396690</a>;ExAC.Info.AC=112098;ExAC.Info.AN=126408;ExAC.Info.AF=0.887;ExAC.Info.AC_Het=9705;ExAC.Info.AC_Hom=47063;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.562+26C>G;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305253;SAVANT_GENE=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;SAVANT_INFO=+/67.5kb/13/6.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.562+26C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUB+c.562+26C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8115762">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1058,90,0:104	1|1:0,35:35:99:1368,105,0:104	1|1:0,40:40:99:1452,120,0:104
11	8116920	.	C	G	12166.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3752898;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3752898" target="_blank">rs3752898</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.563-125C>G;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305253;SAVANT_GENE=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;SAVANT_INFO=+/67.5kb/13/6.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.563-125C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUB+c.563-125C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8116920">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,30:66:99:893,0,1087:127	1|1:0,99:99:99:3640,298,0:127	0|1:30,32:62:99:1015,0,888:127
11	8117228	.	A	G	23197.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11041739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11041739" target="_blank">rs11041739</a>;ExAC.Info.AC=122659;ExAC.Info.AN=122898;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=70;ExAC.Info.AC_Hom=30963;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.730+16A>G;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305253;SAVANT_GENE=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;SAVANT_INFO=+/67.5kb/13/6.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.730+16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUB+c.730+16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8117228">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2753,231,0:127	1|1:0,108:108:99:3822,325,0:127	1|1:0,82:82:99:2934,246,0:127
11	8118185	.	C	G	20227.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10160258;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10160258" target="_blank">rs10160258</a>;ExAC.Info.AC=124667;ExAC.Info.AN=126692;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=1868;ExAC.Info.AC_Hom=61244;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.731-47C>G;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305253;SAVANT_GENE=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;SAVANT_INFO=+/67.5kb/13/6.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.731-47C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUB+c.731-47C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8118185">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:2159,147,0:127	1|1:0,65:65:99:2855,196,0:127	1|1:0,59:59:99:2579,177,0:127
11	8118200	.	C	A	20672.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7931842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7931842" target="_blank">rs7931842</a>;ExAC.Info.AC=126604;ExAC.Info.AN=126700;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=91;ExAC.Info.AC_Hom=63203;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.731-32C>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305253;SAVANT_GENE=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;SAVANT_INFO=+/67.5kb/13/6.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.731-32C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUB+c.731-32C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8118200">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2330,160,0:127	1|1:0,69:69:99:3010,214,0:127	1|1:0,59:59:99:2637,181,0:127
11	8122091	.	C	T	8320.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72848487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72848487" target="_blank">rs72848487</a>;ExAC.Info.AC=3398;ExAC.Info.AN=126704;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=3280;ExAC.Info.AC_Hom=57;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1323C>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser441Ser/c.1323C>T;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305253;SAVANT_GENE=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;SAVANT_INFO=+/67.5kb/13/6.4kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1323C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUB+c.1323C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8122091">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,61:123:99:1581,0,1832:127	1|0:81,67:148:99:1853,0,2458:127	0|0:119,0:119:99:0,358,4305:127
11	8122228	.	A	G	6544.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=541;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12796222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12796222" target="_blank">rs12796222</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1380+80A>G;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305253;SAVANT_GENE=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;SAVANT_INFO=+/67.5kb/13/6.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1380+80A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUB+c.1380+80A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8122228">View</a>	GT:AD:DP:GQ:PL:TP	0|0:193,0:193:99:0,579,6030:127	0|1:96,109:205:99:3287,0,2490:127	0|0:143,0:143:99:0,429,4862:127
11	8122234	.	G	A	40581.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7394561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7394561" target="_blank">rs7394561</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1380+86G>A;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000305253;SAVANT_GENE=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;SAVANT_INFO=+/67.5kb/13/6.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1380+86G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUB+c.1380+86G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8122234">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,186:186:99:5759,558,0:127	1|1:0,199:199:99:7807,604,0:127	1|1:0,140:140:99:4700,421,0:127
11	8122242	.	A	AG	26453.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=455;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs138755629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=138755629" target="_blank">rs138755629</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1380+95_1380+96insG;snpeff.Amino_Acid_length=561;snpeff.Gene_Name=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000305253;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000305253;SAVANT_GENE=TUB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TUB" target="_blank">TUB</a>;SAVANT_INFO=+/67.5kb/13/6.4kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1380+98dupG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TUB+c.1380+98dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8122242">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,166:166:99:5399,502,0:127	1|0:87,79:166:99:2082,0,2356:127	1|1:0,123:123:99:3953,368,0:127
11	8132301	.	C	T	5358.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=200;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|P|P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11826236;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11826236" target="_blank">rs11826236</a>;ExAC.Info.AC=9998;ExAC.Info.AN=126702;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=9024;ExAC.Info.AC_Hom=487;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1054C>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp352Asn/c.1054G>A;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309737;SAVANT_GENE=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;SAVANT_INFO=-/60.0kb/6/2.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1054G>A_p.Asp352Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIC3+c.1054G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8132301">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,34:64:99:855,0,833:127	0|0:69,0:69:99:0,208,2621:127	1|0:29,38:67:99:1219,0,918:127
11	8149753	.	T	G	9512.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1528133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1528133" target="_blank">rs1528133</a>;ExAC.Info.AC=1701;ExAC.Info.AN=21826;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=1436;ExAC.Info.AC_Hom=89;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.522-1399A>C;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.522T>G;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.522T>G;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.522T>G;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.522T>G;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.522T>G;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309737;SAVANT_GENE=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;SAVANT_INFO=-/60.0kb/6/2.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.522-1399A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIC3+c.522-1399A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8149753">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,64:130:99:1770,0,1823:127	0|0:147,1:148:99:0,433,4953:127	1|0:65,62:127:99:1625,0,1775:127
11	8159857	.	C	T	11977.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=618;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55990541;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55990541" target="_blank">rs55990541</a>;ExAC.Info.AC=9300;ExAC.Info.AN=126704;ExAC.Info.AF=0.073;ExAC.Info.AC_Het=8484;ExAC.Info.AC_Hom=408;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389C>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389C>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389C>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389C>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.389C>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tAc;snpeff.Amino_Acid_Change=p.Cys130Tyr/c.389G>A;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309737;SAVANT_GENE=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;SAVANT_INFO=-/60.0kb/6/2.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.389G>A_p.Cys130Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIC3+c.389G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8159857">View</a>	GT:AD:DP:GQ:PL:TP	1|0:102,94:196:99:2234,0,2828:127	0|0:242,0:242:99:0,727,8717:127	1|0:89,91:180:99:2338,0,2646:127
11	8159961	.	T	A	6398.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56359962;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56359962" target="_blank">rs56359962</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.352-67A>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352T>A;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352T>A;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352T>A;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352T>A;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352T>A;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309737;SAVANT_GENE=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;SAVANT_INFO=-/60.0kb/6/2.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.352-67A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIC3+c.352-67A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8159961">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,41:93:99:936,0,1408:127	0|0:133,1:134:99:0,371,4315:127	1|0:47,57:104:99:1480,0,1283:127
11	8174966	.	G	A	4647.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10743052;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10743052" target="_blank">rs10743052</a>;ExAC.Info.AC=6026;ExAC.Info.AN=14610;ExAC.Info.AF=0.412;ExAC.Info.AC_Het=2793;ExAC.Info.AC_Hom=1288;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.125-13226C>T;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.125G>A;snpeff.Amino_Acid_length=369;snpeff.Gene_Name=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309737;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309737;SAVANT_GENE=RIC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RIC3" target="_blank">RIC3</a>;SAVANT_INFO=-/60.0kb/6/2.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.125-13226C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RIC3+c.125-13226C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8174966">View</a>	GT:AD:DP:GQ:PL:TP	1|0:20,39:59:99:937,0,519:127	0|0:69,0:69:99:0,207,2457:127	1|0:37,34:71:99:920,0,1157:127
11	8246326	.	G	A	3999.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=121;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Leukemia|_T-cell_acute_lymphoblastic_(2);dbSNP139.ID=rs34544683;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34544683" target="_blank">rs34544683</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.366-58C>T;snpeff.Amino_Acid_length=156;snpeff.Gene_Name=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335790;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=156;snpeff.Gene_Name=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335790;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.366G>A;snpeff.Amino_Acid_length=156;snpeff.Gene_Name=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335790;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335790;SAVANT_GENE=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;SAVANT_INFO=-/39.6kb/4/1.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.366-58C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMO1+c.366-58C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8246326">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,30:47:99:894,0,455:127	0/1:20,17:37:99:441,0,672:127	0/1:20,17:37:99:413,0,517:127
11	8251921	.	G	C	8737.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Leukemia|_T-cell_acute_lymphoblastic_(2);dbSNP139.ID=rs3750952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750952" target="_blank">rs3750952</a>;ExAC.Info.AC=56462;ExAC.Info.AN=126700;ExAC.Info.AF=0.446;ExAC.Info.AC_Het=28993;ExAC.Info.AC_Hom=13700;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156G>C;snpeff.Amino_Acid_length=156;snpeff.Gene_Name=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335790;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156G>C;snpeff.Amino_Acid_length=156;snpeff.Gene_Name=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335790;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcG;snpeff.Amino_Acid_Change=p.Ala52Ala/c.156C>G;snpeff.Amino_Acid_length=156;snpeff.Gene_Name=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335790;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335790;SAVANT_GENE=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;SAVANT_INFO=-/39.6kb/4/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.156C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMO1+c.156C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8251921">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,30:62:99:790,0,954:127	1|1:0,68:68:99:2350,204,0:127	0|1:23,17:40:99:468,0,747:127
11	8284981	.	A	C	11149.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Leukemia|_T-cell_acute_lymphoblastic_(2);dbSNP139.ID=rs176083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=176083" target="_blank">rs176083</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=72;snpeff.Amino_Acid_Change=c.-72T>G;snpeff.Amino_Acid_length=156;snpeff.Gene_Name=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335790;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335790;SAVANT_GENE=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;SAVANT_INFO=-/39.6kb/4/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-72T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMO1+c.-72T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8284981">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1645,147,0:92	1|1:0,50:50:99:1760,150,0:92	1|1:0,31:31:93:1051,93,0:92
11	8284995	.	T	C	11263.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Leukemia|_T-cell_acute_lymphoblastic_(2);dbSNP139.ID=rs204929;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=204929" target="_blank">rs204929</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=86;snpeff.Amino_Acid_Change=c.-86A>G;snpeff.Amino_Acid_length=156;snpeff.Gene_Name=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335790;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335790;SAVANT_GENE=LMO1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO1" target="_blank">LMO1</a>;SAVANT_INFO=-/39.6kb/4/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-86A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMO1+c.-86A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8284995">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,49:49:99:1642,147,0:107	1|1:0,53:53:99:1815,159,0:107	1|1:0,36:36:99:1261,108,0:107
11	8435077	.	C	T	21665.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1011;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3751095;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3751095" target="_blank">rs3751095</a>;ExAC.Info.AC=32397;ExAC.Info.AN=126702;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=23430;ExAC.Info.AC_Hom=4480;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala437Thr/c.1309G>A;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=STK33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK33" target="_blank">STK33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447869;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000447869;SAVANT_GENE=STK33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK33" target="_blank">STK33</a>;SAVANT_INFO=-/84.0kb/12/3.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1309G>A_p.Ala437Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK33+c.1309G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8435077">View</a>	GT:AD:DP:GQ:PL:TP	1|0:181,121:302:99:4625,0,7244:127	0|0:442,0:442:99:0,1346,20011:127	1|0:148,119:267:99:4579,0,5889:127
11	8435078	.	A	C	21665.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=1017;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3751096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3751096" target="_blank">rs3751096</a>;ExAC.Info.AC=32395;ExAC.Info.AN=126702;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=23432;ExAC.Info.AC_Hom=4478;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaT/gaG;snpeff.Amino_Acid_Change=p.Asp436Glu/c.1308T>G;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=STK33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK33" target="_blank">STK33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447869;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000447869;SAVANT_GENE=STK33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK33" target="_blank">STK33</a>;SAVANT_INFO=-/84.0kb/12/3.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1308T>G_p.Asp436Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK33+c.1308T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8435078">View</a>	GT:AD:DP:GQ:PL:TP	1|0:180,124:304:99:4625,0,7244:127	0|0:446,0:446:99:0,1346,20011:127	1|0:149,118:267:99:4579,0,5889:127
11	8483335	.	G	A	5338.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=257;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1900273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1900273" target="_blank">rs1900273</a>;ExAC.Info.AC=68285;ExAC.Info.AN=126628;ExAC.Info.AF=0.539;ExAC.Info.AC_Het=30405;ExAC.Info.AC_Hom=18691;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.558+17C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=STK33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK33" target="_blank">STK33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447869;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000447869;SAVANT_GENE=STK33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK33" target="_blank">STK33</a>;SAVANT_INFO=-/84.0kb/12/3.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.558+17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK33+c.558+17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8483335">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,43:76:99:1244,0,909:127	0|0:104,0:104:99:0,312,3402:127	1|0:33,44:77:99:1212,0,893:127
11	8486310	.	C	A	7632.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=346;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1446464;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1446464" target="_blank">rs1446464</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=54439;ExAC.Info.AN=126690;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=30063;ExAC.Info.AC_Hom=12176;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcT;snpeff.Amino_Acid_Change=p.Ala133Ala/c.399G>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=STK33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK33" target="_blank">STK33</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000447869;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000447869;SAVANT_GENE=STK33;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STK33" target="_blank">STK33</a>;SAVANT_INFO=-/84.0kb/12/3.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.399G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=STK33+c.399G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8486310">View</a>	GT:AD:DP:GQ:PL:TP	1|0:52,54:106:99:1456,0,1442:127	0|0:136,0:136:99:0,408,4603:127	1|0:55,49:104:99:1452,0,1501:127
11	8644530	.	T	G	19247.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs4929948;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4929948" target="_blank">rs4929948</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2579-107A>C;snpeff.Amino_Acid_length=1245;snpeff.Gene_Name=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402157;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000402157;SAVANT_GENE=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;SAVANT_INFO=-/59.8kb/22/10.1kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2579-107A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM66+c.2579-107A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8644530">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,63:135:99:1807,0,2128:127	1|1:0,151:151:99:5409,453,0:127	0|1:70,61:131:99:1807,0,2164:127
11	8646237	.	G	T	11418.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs12803166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12803166" target="_blank">rs12803166</a>;ExAC.Info.AC=14055;ExAC.Info.AN=25964;ExAC.Info.AF=0.541;ExAC.Info.AC_Het=3328;ExAC.Info.AC_Hom=2731;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2385+23C>A;snpeff.Amino_Acid_length=1245;snpeff.Gene_Name=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402157;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000402157;SAVANT_GENE=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;SAVANT_INFO=-/59.8kb/22/10.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2385+23C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM66+c.2385+23C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8646237">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,26:76:99:594,0,1542:127	1|1:0,91:91:99:3039,273,0:127	0|1:41,41:82:99:1080,0,1307:127
11	8646670	.	T	G	6305.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7947230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7947230" target="_blank">rs7947230</a>;ExAC.Info.AC=5809;ExAC.Info.AN=28576;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=4079;ExAC.Info.AC_Hom=682;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Cac;snpeff.Amino_Acid_Change=p.Asn659His/c.1975A>C;snpeff.Amino_Acid_length=1245;snpeff.Gene_Name=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402157;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000402157;SAVANT_GENE=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;SAVANT_INFO=-/59.8kb/22/10.1kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1975A>C_p.Asn659His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM66+c.1975A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8646670">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,38:77:99:1171,0,1092:127	0|0:86,0:86:99:0,258,2998:127	1|0:47,41:88:99:1146,0,1408:127
11	8646763	.	G	C	1518.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7935453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7935453" target="_blank">rs7935453</a>;ExAC.Info.AC=6310;ExAC.Info.AN=29556;ExAC.Info.AF=0.213;ExAC.Info.AC_Het=2483;ExAC.Info.AC_Hom=440;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Gtg;snpeff.Amino_Acid_Change=p.Leu628Val/c.1882C>G;snpeff.Amino_Acid_length=1245;snpeff.Gene_Name=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402157;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000402157;SAVANT_GENE=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;SAVANT_INFO=-/59.8kb/22/10.1kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1882C>G_p.Leu628Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM66+c.1882C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8646763">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,9:18:99:275,0,280:87	0|0:29,0:29:87:0,87,1069:87	1|0:18,11:29:99:292,0,624:87
11	8662516	.	T	C	5913.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11042023;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11042023" target="_blank">rs11042023</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=16422;ExAC.Info.AN=29432;ExAC.Info.AF=0.558;ExAC.Info.AC_Het=5549;ExAC.Info.AC_Hom=4300;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His322Arg/c.965A>G;snpeff.Amino_Acid_length=1245;snpeff.Gene_Name=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402157;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000402157;SAVANT_GENE=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;SAVANT_INFO=-/59.8kb/22/10.1kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.965A>G_p.His322Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM66+c.965A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8662516">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,17:30:99:475,0,342:127	1|1:0,45:45:99:1655,135,0:127	0|1:13,17:30:99:604,0,365:127
11	8671369	.	C	T	7233.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10840101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10840101" target="_blank">rs10840101</a>;ExAC.Info.AC=5703;ExAC.Info.AN=28012;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=4102;ExAC.Info.AC_Hom=648;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu25Leu/c.75G>A;snpeff.Amino_Acid_length=1245;snpeff.Gene_Name=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402157;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000402157;SAVANT_GENE=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;SAVANT_INFO=-/59.8kb/22/10.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.75G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM66+c.75G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8671369">View</a>	GT:AD:DP:GQ:PL:TP	0|1:26,27:53:99:661,0,713:127	1|1:0,63:63:99:1979,189,0:127	0|1:15,17:32:99:502,0,405:127
11	8693405	.	G	A	23570.93	PASS	InheritancePattern=unknown;AC=2;AF=1.00;AN=2;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./.;dbSNP139.ID=rs11517718;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11517718" target="_blank">rs11517718</a>;ExAC.Info.AC=6580;ExAC.Info.AN=17014;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=4309;ExAC.Info.AC_Hom=1263;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=20050;snpeff.Amino_Acid_Change=c.-433C>T;snpeff.Amino_Acid_length=1245;snpeff.Gene_Name=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402157;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=1245;snpeff.Gene_Name=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402157;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000402157;SAVANT_GENE=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;SAVANT_INFO=-/59.8kb/22/10.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-20050C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM66+c.-20050C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8693405">View</a>	GT:AD:DP:GQ:PL	./1:0,44:80:99:2719,1256,1124	./.:0,0:121:99:4340,4339,4339	./1:0,36:74:99:2539,1287,1181
11	8693405	.	G	T	23570.93	PASS	InheritancePattern=Normal;AC=4;AF=1.00;AN=4;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=1/1;dbSNP139.ID=rs11517718;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11517718" target="_blank">rs11517718</a>;ExAC.Info.AC=3471;ExAC.Info.AN=17014;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=4309;ExAC.Info.AC_Hom=1263;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=20050;snpeff.Amino_Acid_Change=c.-433C>A;snpeff.Amino_Acid_length=1245;snpeff.Gene_Name=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000402157;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000402157;SAVANT_GENE=TRIM66;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM66" target="_blank">TRIM66</a>;SAVANT_INFO=-/59.8kb/22/10.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-20050C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM66+c.-20050C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8693405">View</a>	GT:AD:DP:GQ:PL	./1:0,36:80:99:2719,1463,1355	1/1:0,121:121:99:4340,364,0	./1:0,38:74:99:2539,1255,1143
11	8704711	.	A	C	18567.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=463;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3365;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3365" target="_blank">rs3365</a>;ExAC.Info.AC=11331;ExAC.Info.AN=126696;ExAC.Info.AF=0.089;ExAC.Info.AC_Het=10001;ExAC.Info.AC_Hom=657;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4-38A>C;snpeff.Amino_Acid_length=148;snpeff.Gene_Name=RPL27A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL27A" target="_blank">RPL27A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314138;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314138;SAVANT_GENE=RPL27A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL27A" target="_blank">RPL27A</a>;SAVANT_INFO=+/7.5kb/5/4.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.4-38A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPL27A+c.4-38A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8704711">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,62:140:99:1665,0,1975:127	1|1:0,173:173:99:5788,518,0:127	0|0:150,0:150:99:0,448,4521:127
11	8707083	.	G	A	5682.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2073686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2073686" target="_blank">rs2073686</a>;ExAC.Info.AC=22218;ExAC.Info.AN=125774;ExAC.Info.AF=0.177;ExAC.Info.AC_Het=17828;ExAC.Info.AC_Hom=2073;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.98G>A;snpeff.Gene_Name=SNORA45;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORA45" target="_blank">SNORA45</a>;snpeff.Transcript_BioType=snoRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000391305;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.319-142G>A;snpeff.Amino_Acid_length=148;snpeff.Gene_Name=RPL27A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORA45" target="_blank">SNORA45</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314138;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314138;SAVANT_GENE=RPL27A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL27A" target="_blank">RPL27A</a>;SAVANT_INFO=+/7.5kb/5/4.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.319-142G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPL27A+c.319-142G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8707083">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,43:73:99:1298,0,836:127	0|0:87,0:87:99:0,261,2942:127	1|0:44,36:80:99:1099,0,1273:127
11	8717003	.	C	T	46739.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=1136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2270956;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270956" target="_blank">rs2270956</a>;ExAC.Info.AC=54183;ExAC.Info.AN=126702;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=30057;ExAC.Info.AC_Hom=12056;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RPL27A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL27A" target="_blank">RPL27A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3379+7G>A;snpeff.Amino_Acid_length=1137;snpeff.Gene_Name=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL27A" target="_blank">RPL27A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534127;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.605-1012C>T;snpeff.Gene_Name=RP11-152H18.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL27A" target="_blank">RPL27A</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000529883;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3380G>A;snpeff.Amino_Acid_length=1137;snpeff.Gene_Name=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL27A" target="_blank">RPL27A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534127;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534127;SAVANT_GENE=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST5" target="_blank">ST5</a>;SAVANT_INFO=-/217.6kb/23/4.5kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3379+7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST5+c.3379+7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8717003">View</a>	GT:AD:DP:GQ:PL:TP	0|1:211,199:410:99:5001,0,5906:127	1|1:2,413:415:99:13916,1197,0:127	0|1:155,156:311:99:4402,0,4480:127
11	8724279	.	CGAT	C	6670.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs71872129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71872129" target="_blank">rs71872129</a>;ExAC.Info.AC=9074;ExAC.Info.AN=126692;ExAC.Info.AF=0.072;ExAC.Info.AC_Het=8203;ExAC.Info.AC_Hom=419;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RPL27A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL27A" target="_blank">RPL27A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2572-15_2572-13delATC;snpeff.Amino_Acid_length=1137;snpeff.Gene_Name=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL27A" target="_blank">RPL27A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534127;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000534127;SAVANT_GENE=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST5" target="_blank">ST5</a>;SAVANT_INFO=-/217.6kb/23/4.5kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2572-15_2572-13delATC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST5+c.2572-15_2572-13delATC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8724279">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,39:79:99:1497,0,1738:127	0|0:80,0:80:99:0,240,3915:127	1|0:45,33:78:99:1250,0,1997:127
11	8735662	.	G	A	10132.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs931756;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=931756" target="_blank">rs931756</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RPL27A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL27A" target="_blank">RPL27A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1943-73C>T;snpeff.Amino_Acid_length=1137;snpeff.Gene_Name=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPL27A" target="_blank">RPL27A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534127;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534127;SAVANT_GENE=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST5" target="_blank">ST5</a>;SAVANT_INFO=-/217.6kb/23/4.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1943-73C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST5+c.1943-73C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8735662">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,35:66:99:896,0,861:127	1|1:0,94:94:99:3137,282,0:127	0|1:36,25:61:99:647,0,1146:127
11	8751640	.	G	C	26304.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3812762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3812762" target="_blank">rs3812762</a>;ExAC.Info.AC=39447;ExAC.Info.AN=126702;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=26281;ExAC.Info.AC_Hom=6583;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaC/gaG;snpeff.Amino_Acid_Change=p.Asp399Glu/c.1197C>G;snpeff.Amino_Acid_length=1137;snpeff.Gene_Name=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST5" target="_blank">ST5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534127;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534127;SAVANT_GENE=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST5" target="_blank">ST5</a>;SAVANT_INFO=-/217.6kb/23/4.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1197C>G_p.Asp399Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST5+c.1197C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8751640">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,149:149:99:5335,447,0:127	1|0:68,78:146:99:2396,0,2218:127	1|0:68,66:134:99:1839,0,2187:127
11	8751889	.	C	G	2013.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3794153;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3794153" target="_blank">rs3794153</a>;ExAC.Info.AC=49510;ExAC.Info.AN=126224;ExAC.Info.AF=0.392;ExAC.Info.AC_Het=26826;ExAC.Info.AC_Hom=10632;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaG/aaC;snpeff.Amino_Acid_Change=p.Lys316Asn/c.948G>C;snpeff.Amino_Acid_length=1137;snpeff.Gene_Name=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST5" target="_blank">ST5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534127;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534127;SAVANT_GENE=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST5" target="_blank">ST5</a>;SAVANT_INFO=-/217.6kb/23/4.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.948G>C_p.Lys316Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST5+c.948G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8751889">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2155:127	0|1:40,34:74:99:1025,0,1270:127	0|0:69,0:69:99:0,207,2445:127
11	8788168	.	A	T	1304.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=84;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10743089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10743089" target="_blank">rs10743089</a>;ExAC.Info.AC=8276;ExAC.Info.AN=15348;ExAC.Info.AF=0.539;ExAC.Info.AC_Het=2738;ExAC.Info.AC_Hom=2088;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-25-15896T>A;snpeff.Amino_Acid_length=1137;snpeff.Gene_Name=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST5" target="_blank">ST5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534127;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534127;SAVANT_GENE=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST5" target="_blank">ST5</a>;SAVANT_INFO=-/217.6kb/23/4.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-15921T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST5+c.-15921T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8788168">View</a>	GT:AD:DP:GQ:PL:TP	0|0:34,0:34:99:0,102,1086:101	0|1:14,17:31:99:440,0,431:101	0|1:10,9:19:99:232,0,314:101
11	8788225	.	A	C	1858.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10734637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10734637" target="_blank">rs10734637</a>;ExAC.Info.AC=8725;ExAC.Info.AN=14892;ExAC.Info.AF=0.586;ExAC.Info.AC_Het=2622;ExAC.Info.AC_Hom=2406;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-25-15953T>G;snpeff.Amino_Acid_length=1137;snpeff.Gene_Name=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST5" target="_blank">ST5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534127;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000534127;SAVANT_GENE=ST5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ST5" target="_blank">ST5</a>;SAVANT_INFO=-/217.6kb/23/4.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-15978T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ST5+c.-15978T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8788225">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1642:127	0|1:34,20:54:99:581,0,943:127	0|1:27,16:43:99:368,0,723:127
11	8933064	.	G	A	3996.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|D|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1133833;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1133833" target="_blank">rs1133833</a>;ExAC.Info.AC=25263;ExAC.Info.AN=126262;ExAC.Info.AF=0.200;ExAC.Info.AC_Het=17525;ExAC.Info.AC_Hom=2723;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg23Lys/c.68G>A;snpeff.Amino_Acid_length=210;snpeff.Gene_Name=AKIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKIP1" target="_blank">AKIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534147;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309377;SAVANT_GENE=AKIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKIP1" target="_blank">AKIP1</a>;SAVANT_INFO=+/8.9kb/6/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.68G>A_p.Arg23Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKIP1+c.68G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8933064">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,23:64:99:606,0,1237:127	0|0:67,0:67:99:0,201,2276:127	1|0:26,22:48:99:586,0,778:127
11	8934101	.	A	G	40956.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=479;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2742518;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2742518" target="_blank">rs2742518</a>;ExAC.Info.AC=122630;ExAC.Info.AN=126704;ExAC.Info.AF=0.968;ExAC.Info.AC_Het=2746;ExAC.Info.AC_Hom=59898;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.303+21A>G;snpeff.Amino_Acid_length=210;snpeff.Gene_Name=AKIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKIP1" target="_blank">AKIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534147;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309377;SAVANT_GENE=AKIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKIP1" target="_blank">AKIP1</a>;SAVANT_INFO=+/8.9kb/6/1.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.303+21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKIP1+c.303+21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8934101">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,146:146:99:5689,438,0:127	1|1:0,193:193:99:7211,580,0:127	1|1:0,140:140:99:5377,421,0:127
11	8938934	.	C	T	11610.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2016844;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2016844" target="_blank">rs2016844</a>;ExAC.Info.AC=40888;ExAC.Info.AN=126648;ExAC.Info.AF=0.323;ExAC.Info.AC_Het=25936;ExAC.Info.AC_Hom=7066;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.489+20C>T;snpeff.Amino_Acid_length=210;snpeff.Gene_Name=AKIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKIP1" target="_blank">AKIP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534147;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309377;SAVANT_GENE=AKIP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AKIP1" target="_blank">AKIP1</a>;SAVANT_INFO=+/8.9kb/6/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.489+20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AKIP1+c.489+20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8938934">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,48:109:99:1280,0,1656:127	0|0:115,0:115:99:0,346,4009:127	1|1:0,113:113:99:3737,338,0:127
11	8942942	.	C	T	20523.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=596;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2653601;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2653601" target="_blank">rs2653601</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=41280;ExAC.Info.AN=126704;ExAC.Info.AF=0.326;ExAC.Info.AC_Het=26546;ExAC.Info.AC_Hom=7366;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg442Gln/c.1325G>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326053;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326053;SAVANT_GENE=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;SAVANT_INFO=-/12.9kb/7/1.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1325G>A_p.Arg442Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf16+c.1325G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8942942">View</a>	GT:AD:DP:GQ:PL:TP	1|0:82,107:189:99:3040,0,2339:127	0|0:232,0:232:99:0,696,7810:127	1|1:1,174:175:99:6014,514,0:127
11	8942999	.	G	A	45445.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=593;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2568023;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2568023" target="_blank">rs2568023</a>;ExAC.Info.AC=123813;ExAC.Info.AN=126704;ExAC.Info.AF=0.977;ExAC.Info.AC_Het=2243;ExAC.Info.AC_Hom=60783;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gTa;snpeff.Amino_Acid_Change=p.Ala423Val/c.1268C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326053;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326053;SAVANT_GENE=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;SAVANT_INFO=-/12.9kb/7/1.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1268C>T_p.Ala423Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf16+c.1268C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8942999">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,180:180:99:5742,540,0:127	1|1:0,215:215:99:7280,646,0:127	1|1:0,198:198:99:6658,594,0:127
11	8947021	.	A	G	23508.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2653588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2653588" target="_blank">rs2653588</a>;ExAC.Info.AC=122474;ExAC.Info.AN=126692;ExAC.Info.AF=0.967;ExAC.Info.AC_Het=2767;ExAC.Info.AC_Hom=59616;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTt/cCt;snpeff.Amino_Acid_Change=p.Leu398Pro/c.1193T>C;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326053;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326053;SAVANT_GENE=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;SAVANT_INFO=-/12.9kb/7/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1193T>C_p.Leu398Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf16+c.1193T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8947021">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:3063,252,0:127	1|1:0,99:99:99:3696,298,0:127	1|1:0,92:92:99:3188,276,0:127
11	8947179	.	G	A	15303.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2568077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2568077" target="_blank">rs2568077</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=41287;ExAC.Info.AN=126704;ExAC.Info.AF=0.326;ExAC.Info.AC_Het=26535;ExAC.Info.AC_Hom=7375;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp345Asp/c.1035C>T;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326053;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326053;SAVANT_GENE=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;SAVANT_INFO=-/12.9kb/7/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1035C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf16+c.1035C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8947179">View</a>	GT:AD:DP:GQ:PL:TP	1|0:57,64:121:99:1714,0,1590:127	0|0:156,0:156:99:0,469,5789:127	1|1:1,134:135:99:4597,391,0:127
11	8947283	.	G	C	10450.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3751066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3751066" target="_blank">rs3751066</a>;ExAC.Info.AC=74893;ExAC.Info.AN=126704;ExAC.Info.AF=0.591;ExAC.Info.AC_Het=29096;ExAC.Info.AC_Hom=22893;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Gcc;snpeff.Amino_Acid_Change=p.Pro311Ala/c.931C>G;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326053;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326053;SAVANT_GENE=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;SAVANT_INFO=-/12.9kb/7/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.931C>G_p.Pro311Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf16+c.931C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8947283">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,36:87:99:986,0,1554:127	1|1:0,98:98:99:3558,295,0:127	0|0:101,0:101:99:0,302,3517:127
11	8948680	.	A	T	5770.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3751065;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3751065" target="_blank">rs3751065</a>;ExAC.Info.AC=74652;ExAC.Info.AN=126698;ExAC.Info.AF=0.589;ExAC.Info.AC_Het=29023;ExAC.Info.AC_Hom=22635;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccA;snpeff.Amino_Acid_Change=p.Pro122Pro/c.366T>A;snpeff.Amino_Acid_length=467;snpeff.Gene_Name=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326053;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326053;SAVANT_GENE=C11orf16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf16" target="_blank">C11orf16</a>;SAVANT_INFO=-/12.9kb/7/1.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.366T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf16+c.366T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8948680">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,35:65:99:902,0,778:127	1|1:0,58:58:99:1967,174,0:127	0|0:49,0:49:99:0,147,1735:127
11	8959370	.	G	A	9179.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2742505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2742505" target="_blank">rs2742505</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=41046;ExAC.Info.AN=126704;ExAC.Info.AF=0.324;ExAC.Info.AC_Het=26318;ExAC.Info.AC_Hom=7356;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr113Tyr/c.339C>T;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=ASCL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASCL3" target="_blank">ASCL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531618;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325884;SAVANT_GENE=ASCL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASCL3" target="_blank">ASCL3</a>;SAVANT_INFO=-/5.5kb/2/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.339C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASCL3+c.339C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8959370">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,45:87:99:1211,0,1282:127	0|0:92,0:92:99:0,277,3470:127	1|1:0,85:85:99:2889,255,0:127
11	8959511	.	T	G	9219.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=192;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs4910179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4910179" target="_blank">rs4910179</a>;ExAC.Info.AC=89599;ExAC.Info.AN=126702;ExAC.Info.AF=0.707;ExAC.Info.AC_Het=24062;ExAC.Info.AC_Hom=32735;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly66Gly/c.198A>C;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=ASCL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASCL3" target="_blank">ASCL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531618;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325884;SAVANT_GENE=ASCL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASCL3" target="_blank">ASCL3</a>;SAVANT_INFO=-/5.5kb/2/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.198A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASCL3+c.198A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8959511">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,24:64:99:746,0,1096:127	1|1:0,70:70:99:2611,210,0:127	0|1:28,30:58:99:1027,0,787:127
11	8959545	.	C	A	6834.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4909951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4909951" target="_blank">rs4909951</a>;ExAC.Info.AC=78266;ExAC.Info.AN=126696;ExAC.Info.AF=0.618;ExAC.Info.AC_Het=28169;ExAC.Info.AC_Hom=25016;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cTg;snpeff.Amino_Acid_Change=p.Arg55Leu/c.164G>T;snpeff.Amino_Acid_length=181;snpeff.Gene_Name=ASCL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASCL3" target="_blank">ASCL3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531618;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000325884;SAVANT_GENE=ASCL3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASCL3" target="_blank">ASCL3</a>;SAVANT_INFO=-/5.5kb/2/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.164G>T_p.Arg55Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ASCL3+c.164G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:8959545">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,25:61:99:739,0,1113:127	1|1:0,65:65:99:2403,195,0:127	0|0:56,0:56:99:0,168,2057:127
11	9001289	.	TAA	T	4366.71	PASS	InheritancePattern=Normal;AC=2;AF=0.667;AN=3;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./0;NA12891_GT=./1;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9001289">View</a>	GT:AD:DP:GQ:PL	./1:2,17:33:99:810,279,327	./1:2,21:42:99:967,370,481	./0:17,1:30:99:227,270,935
11	9001289	.	TAA	TA	4366.71	PASS	InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=105;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=0/1;NA12891_GT=./1;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9001289">View</a>	GT:AD:DP:GQ:PL	./1:2,14:33:99:810,338,285	./1:2,19:42:99:967,419,350	0/1:17,12:30:99:227,0,304
11	9001291	.	A	T	851.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs199678234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199678234" target="_blank">rs199678234</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199678234" target="_blank">rs199678234</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9001291">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,14:40:99:229,0,752:127	0|0:64,0:64:99:0,192,2080:127	1|0:30,9:39:99:115,0,1106:127
11	9004376	.	CT	C	766.71	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=33;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs35481824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35481824" target="_blank">rs35481824</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=715;snpeff.Amino_Acid_Change=c.*715delA;snpeff.Amino_Acid_length=241;snpeff.Gene_Name=NRIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRIP3" target="_blank">NRIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309166;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000309166;SAVANT_GENE=NRIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRIP3" target="_blank">NRIP3</a>;SAVANT_INFO=-/23.5kb/7/3.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*715delA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRIP3+c.*715delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9004376">View</a>	GT:AD:DP:GQ:PL:TP	0/1:2,8:10:17:125,0,17:16	0/1:7,8:15:99:121,0,110:16	0/1:2,6:8:23:79,0,23:16
11	9005036	.	T	A	16376.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2568046;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2568046" target="_blank">rs2568046</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=56;snpeff.Amino_Acid_Change=c.*56A>T;snpeff.Amino_Acid_length=241;snpeff.Gene_Name=NRIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRIP3" target="_blank">NRIP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309166;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309166;SAVANT_GENE=NRIP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NRIP3" target="_blank">NRIP3</a>;SAVANT_INFO=-/23.5kb/7/3.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*56A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NRIP3+c.*56A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9005036">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1746,159,0:127	1|1:0,70:70:99:2563,210,0:127	1|1:0,75:75:99:2570,225,0:127
11	9045960	.	T	A	3070.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs1110216;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1110216" target="_blank">rs1110216</a>;ExAC.Info.AC=2201;ExAC.Info.AN=15484;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=1595;ExAC.Info.AC_Hom=244;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-467K18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2854+1289A>T;snpeff.Amino_Acid_length=1028;snpeff.Gene_Name=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457346;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000520467;SAVANT_GENE=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCUBE2" target="_blank">SCUBE2</a>;SAVANT_INFO=-/70.7kb/22/3.1kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2683+1289A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCUBE2+c.2683+1289A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9045960">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,3414:127	0|0:146,0:146:99:0,439,4840:127	0|1:51,56:107:99:1554,0,1495:127
11	9051385	.	C	A	27719.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7479998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7479998" target="_blank">rs7479998</a>;ExAC.Info.AC=124953;ExAC.Info.AN=126684;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1518;ExAC.Info.AC_Hom=61558;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-467K18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2503+46G>T;snpeff.Amino_Acid_length=1028;snpeff.Gene_Name=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457346;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000520467;SAVANT_GENE=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCUBE2" target="_blank">SCUBE2</a>;SAVANT_INFO=-/70.7kb/22/3.1kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2332+46G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCUBE2+c.2332+46G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9051385">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,114:114:99:4203,343,0:127	1|1:0,139:139:99:4941,418,0:127	1|1:0,78:78:99:3204,244,0:127
11	9051406	.	T	C	3474.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3751058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3751058" target="_blank">rs3751058</a>;ExAC.Info.AC=15496;ExAC.Info.AN=126688;ExAC.Info.AF=0.122;ExAC.Info.AC_Het=13077;ExAC.Info.AC_Hom=1207;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-467K18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2503+25A>G;snpeff.Amino_Acid_length=1028;snpeff.Gene_Name=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457346;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000520467;SAVANT_GENE=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCUBE2" target="_blank">SCUBE2</a>;SAVANT_INFO=-/70.7kb/22/3.1kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2332+25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCUBE2+c.2332+25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9051406">View</a>	GT:AD:DP:GQ:PL:TP	0|0:153,0:153:99:0,459,4943:127	0|0:192,0:192:99:0,577,6606:127	0|1:71,56:127:99:1756,0,1974:127
11	9052423	.	A	C	34333.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=392;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7395988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7395988" target="_blank">rs7395988</a>;ExAC.Info.AC=126613;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=88;ExAC.Info.AC_Hom=63206;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-467K18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caT/caG;snpeff.Amino_Acid_Change=p.His741Gln/c.2223T>G;snpeff.Amino_Acid_length=1028;snpeff.Gene_Name=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457346;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000520467;SAVANT_GENE=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCUBE2" target="_blank">SCUBE2</a>;SAVANT_INFO=-/70.7kb/22/3.1kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2052T>G_p.His684Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCUBE2+c.2052T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9052423">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4735,375,0:127	1|1:0,154:154:99:5834,463,0:127	1|1:0,113:113:99:4356,340,0:127
11	9069046	.	G	A	4454.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=608;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3751055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3751055" target="_blank">rs3751055</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=19595;ExAC.Info.AN=126704;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=16000;ExAC.Info.AC_Hom=1792;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-467K18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr620Met/c.1859C>T;snpeff.Amino_Acid_length=1028;snpeff.Gene_Name=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457346;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000520467;SAVANT_GENE=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCUBE2" target="_blank">SCUBE2</a>;SAVANT_INFO=-/70.7kb/22/3.1kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1859C>T_p.Thr620Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCUBE2+c.1859C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9069046">View</a>	GT:AD:DP:GQ:PL:TP	0|0:217,0:217:99:0,652,7167:127	0|0:212,0:212:99:0,636,7185:127	0|1:97,82:179:99:2246,0,2680:127
11	9081926	.	C	T	7344.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7112378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7112378" target="_blank">rs7112378</a>;ExAC.Info.AC=85773;ExAC.Info.AN=126688;ExAC.Info.AF=0.677;ExAC.Info.AC_Het=25921;ExAC.Info.AC_Hom=29811;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.337+640C>T;snpeff.Gene_Name=RP11-467K18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000521394;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.967+29G>A;snpeff.Amino_Acid_length=1028;snpeff.Gene_Name=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467K182" target="_blank">RP11-467K182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457346;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000520467;SAVANT_GENE=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCUBE2" target="_blank">SCUBE2</a>;SAVANT_INFO=-/70.7kb/22/3.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.967+29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCUBE2+c.967+29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9081926">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,47:93:99:1222,0,1412:127	1|1:0,59:59:99:1984,176,0:127	0|0:61,1:62:99:0,150,2176:127
11	9096189	.	G	C	20688.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=234;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7930311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7930311" target="_blank">rs7930311</a>;ExAC.Info.AC=66577;ExAC.Info.AN=126698;ExAC.Info.AF=0.525;ExAC.Info.AC_Het=28457;ExAC.Info.AC_Hom=19022;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.383-27C>G;snpeff.Amino_Acid_length=1028;snpeff.Gene_Name=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCUBE2" target="_blank">SCUBE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457346;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000520467;SAVANT_GENE=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCUBE2" target="_blank">SCUBE2</a>;SAVANT_INFO=-/70.7kb/22/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.383-27C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCUBE2+c.383-27C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9096189">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:3186,256,0:127	1|1:0,81:81:99:3212,244,0:127	1|1:0,68:68:99:2582,205,0:127
11	9113008	.	GGCA	G	2760.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=75;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs142900716;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142900716" target="_blank">rs142900716</a>;snpeff.Effect=disruptive_inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ctgccg/ccg;snpeff.Amino_Acid_Change=p.Leu22_Pro23del/c.65_67delTGC;snpeff.Amino_Acid_length=1028;snpeff.Gene_Name=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCUBE2" target="_blank">SCUBE2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457346;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000520467;SAVANT_GENE=SCUBE2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCUBE2" target="_blank">SCUBE2</a>;SAVANT_INFO=-/70.7kb/22/3.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.65_67delTGC_p.Leu22del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SCUBE2+c.65_67delTGC+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9113008">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,12:24:99:466,0,442:74	0|0:25,0:25:74:0,74,1100:74	1|0:12,14:26:99:548,0,461:74
11	9167399	.	T	C	8599.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10732517;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10732517" target="_blank">rs10732517</a>;ExAC.Info.AC=126460;ExAC.Info.AN=126678;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=215;ExAC.Info.AC_Hom=62978;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2858-37A>G;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328194;SAVANT_GENE=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;SAVANT_INFO=-/126.6kb/23/5.0kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2858-37A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND5A+c.2858-37A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9167399">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:897,72,0:101	1|1:0,36:36:99:1376,108,0:101	1|1:0,34:34:99:1310,102,0:101
11	9171775	.	A	G	7520.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs7123970;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7123970" target="_blank">rs7123970</a>;ExAC.Info.AC=42724;ExAC.Info.AN=126698;ExAC.Info.AF=0.337;ExAC.Info.AC_Het=26619;ExAC.Info.AC_Hom=7999;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2607-19T>C;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RUN_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2607A>G;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RUN_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2607A>G;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RUN_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2607A>G;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RUN_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2607A>G;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:RUN_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2607A>G;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328194;SAVANT_GENE=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;SAVANT_INFO=-/126.6kb/23/5.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2607-19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND5A+c.2607-19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9171775">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1245,105,0:104	1|0:31,20:51:99:607,0,871:104	1|0:15,16:31:99:522,0,414:104
11	9199650	.	C	T	5849.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs60693427;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60693427" target="_blank">rs60693427</a>;ExAC.Info.AC=33832;ExAC.Info.AN=126680;ExAC.Info.AF=0.267;ExAC.Info.AC_Het=23299;ExAC.Info.AC_Hom=5257;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1906+29G>A;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328194;SAVANT_GENE=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;SAVANT_INFO=-/126.6kb/23/5.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1906+29G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND5A+c.1906+29G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9199650">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,34:69:99:1021,0,942:127	1|0:38,47:85:99:1405,0,1063:127	0|0:65,0:65:99:0,195,2313:127
11	9225486	.	C	G	7699.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs952374;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=952374" target="_blank">rs952374</a>;ExAC.Info.AC=43680;ExAC.Info.AN=126700;ExAC.Info.AF=0.345;ExAC.Info.AC_Het=26451;ExAC.Info.AC_Hom=8560;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.670C>G;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.670C>G;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.670C>G;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Cag;snpeff.Amino_Acid_Change=p.Glu224Gln/c.670G>C;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328194;SAVANT_GENE=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;SAVANT_INFO=-/126.6kb/23/5.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.670G>C_p.Glu224Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND5A+c.670G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9225486">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,46:92:99:1384,0,1288:127	0|0:120,0:120:99:0,360,4272:127	1|0:42,46:88:99:1448,0,1287:127
11	9228785	.	G	A	9237.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs7396439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7396439" target="_blank">rs7396439</a>;ExAC.Info.AC=9658;ExAC.Info.AN=17788;ExAC.Info.AF=0.543;ExAC.Info.AC_Het=2299;ExAC.Info.AC_Hom=2485;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.181+323C>T;snpeff.Amino_Acid_length=1287;snpeff.Gene_Name=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328194;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328194;SAVANT_GENE=DENND5A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND5A" target="_blank">DENND5A</a>;SAVANT_INFO=-/126.6kb/23/5.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.181+323C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DENND5A+c.181+323C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9228785">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2348,222,0:127	1|0:35,37:72:99:1025,0,1106:127	1|0:41,33:74:99:861,0,1216:127
11	9305177	.	C	T	2487.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72861351;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72861351" target="_blank">rs72861351</a>;ExAC.Info.AC=4960;ExAC.Info.AN=126426;ExAC.Info.AF=0.039;ExAC.Info.AC_Het=4103;ExAC.Info.AC_Hom=144;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.707-37G>A;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=TMEM41B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM41B" target="_blank">TMEM41B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528080;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528080;SAVANT_GENE=TMEM41B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM41B" target="_blank">TMEM41B</a>;SAVANT_INFO=-/34.1kb/7/4.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.707-37G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM41B+c.707-37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9305177">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,15:35:99:429,0,611:127	1|0:17,17:34:99:582,0,512:127	0|0:43,0:43:99:0,129,1442:127
11	9309405	.	A	G	13406.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs5014247;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5014247" target="_blank">rs5014247</a>;ExAC.Info.AC=70701;ExAC.Info.AN=125020;ExAC.Info.AF=0.566;ExAC.Info.AC_Het=20360;ExAC.Info.AC_Hom=15540;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.463-52T>C;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=TMEM41B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM41B" target="_blank">TMEM41B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528080;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528080;SAVANT_GENE=TMEM41B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM41B" target="_blank">TMEM41B</a>;SAVANT_INFO=-/34.1kb/7/4.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.463-52T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM41B+c.463-52T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9309405">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,40:75:99:1244,0,1010:127	1|1:0,97:97:99:3687,292,0:127	0|1:49,49:98:99:1643,0,1360:127
11	9316937	.	G	A	10400.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4601780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4601780" target="_blank">rs4601780</a>;ExAC.Info.AC=123792;ExAC.Info.AN=125970;ExAC.Info.AF=0.983;ExAC.Info.AC_Het=1496;ExAC.Info.AC_Hom=55621;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.240-3C>T;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=TMEM41B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM41B" target="_blank">TMEM41B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528080;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.240C>T;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=TMEM41B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM41B" target="_blank">TMEM41B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528080;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528080;SAVANT_GENE=TMEM41B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM41B" target="_blank">TMEM41B</a>;SAVANT_INFO=-/34.1kb/7/4.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.240-3C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM41B+c.240-3C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9316937">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1311,120,0:127	1|1:0,56:56:99:1853,168,0:127	1|1:0,43:43:99:1476,129,0:127
11	9336071	.	A	G	2660.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs4325312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4325312" target="_blank">rs4325312</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=83;snpeff.Amino_Acid_Change=c.-83T>C;snpeff.Amino_Acid_length=291;snpeff.Gene_Name=TMEM41B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM41B" target="_blank">TMEM41B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528080;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528080;SAVANT_GENE=TMEM41B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM41B" target="_blank">TMEM41B</a>;SAVANT_INFO=-/34.1kb/7/4.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-83T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM41B+c.-83T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9336071">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,123,1550:123	0|1:22,26:48:99:767,0,822:123	0|1:13,18:31:99:583,0,366:123
11	9406349	.	T	C	21106.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4606477;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4606477" target="_blank">rs4606477</a>;ExAC.Info.AC=124832;ExAC.Info.AN=125488;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=480;ExAC.Info.AC_Hom=55584;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr13Thr/c.39T>C;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=IPO7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO7" target="_blank">IPO7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379719;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379719;SAVANT_GENE=IPO7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO7" target="_blank">IPO7</a>;SAVANT_INFO=+/63.5kb/25/6.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.39T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPO7+c.39T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9406349">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2445,213,0:127	1|1:0,81:81:99:2947,243,0:127	1|1:0,90:90:99:2999,270,0:127
11	9450377	.	T	G	12253.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2290423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2290423" target="_blank">rs2290423</a>;ExAC.Info.AC=59192;ExAC.Info.AN=125898;ExAC.Info.AF=0.470;ExAC.Info.AC_Het=29890;ExAC.Info.AC_Hom=14040;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.58T>G;snpeff.Gene_Name=SNORA23;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORA23" target="_blank">SNORA23</a>;snpeff.Transcript_BioType=snoRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000365128;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1425+201T>G;snpeff.Amino_Acid_length=1038;snpeff.Gene_Name=IPO7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORA23" target="_blank">SNORA23</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379719;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379719;SAVANT_GENE=IPO7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO7" target="_blank">IPO7</a>;SAVANT_INFO=+/63.5kb/25/6.2kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1425+201T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IPO7+c.1425+201T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9450377">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,50:110:99:1527,0,1555:127	0|0:115,0:115:99:0,346,3964:127	1|1:0,102:102:99:3672,306,0:127
11	9537904	.	G	C	13901.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=166;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10743108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10743108" target="_blank">rs10743108</a>;ExAC.Info.AC=116975;ExAC.Info.AN=126686;ExAC.Info.AF=0.923;ExAC.Info.AC_Het=7658;ExAC.Info.AC_Hom=52941;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Caa;snpeff.Amino_Acid_Change=p.Glu561Gln/c.1681G>C;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZNF143;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF143" target="_blank">ZNF143</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396602;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396602;SAVANT_GENE=ZNF143;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF143" target="_blank">ZNF143</a>;SAVANT_INFO=+/67.6kb/16/2.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1681G>C_p.Glu561Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF143+c.1681G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9537904">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1994,171,0:127	1|1:0,61:61:99:2284,183,0:127	1|1:0,48:48:99:1873,144,0:127
11	9603236	.	C	T	1550.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4370932;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4370932" target="_blank">rs4370932</a>;ExAC.Info.AC=51406;ExAC.Info.AN=126702;ExAC.Info.AF=0.406;ExAC.Info.AC_Het=29793;ExAC.Info.AC_Hom=10780;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1288+11C>T;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1289C>T;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1289C>T;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1289C>T;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1289C>T;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1289C>T;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1289C>T;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1289C>T;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1289C>T;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1289C>T;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450114;SAVANT_GENE=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;SAVANT_INFO=+/15.5kb/11/2.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1288+11C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WEE1+c.1288+11C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9603236">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,249,2752:127	0|0:72,0:72:99:0,216,2476:127	0|1:45,33:78:99:794,0,1362:127
11	9607032	.	A	G	8910.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=893;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10770042;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10770042" target="_blank">rs10770042</a>;ExAC.Info.AC=18868;ExAC.Info.AN=126684;ExAC.Info.AF=0.149;ExAC.Info.AC_Het=15799;ExAC.Info.AC_Hom=1511;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1428A>G;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1428A>G;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1428A>G;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1428A>G;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1428A>G;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1428A>G;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1428A>G;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu476Glu/c.1428A>G;snpeff.Amino_Acid_length=646;snpeff.Gene_Name=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000450114;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000450114;SAVANT_GENE=WEE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WEE1" target="_blank">WEE1</a>;SAVANT_INFO=+/15.5kb/11/2.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1428A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WEE1+c.1428A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9607032">View</a>	GT:AD:DP:GQ:PL:TP	0|0:271,0:271:99:0,814,9146:127	0|1:163,158:321:99:4474,0,4722:127	0|0:301,0:301:99:0,904,10181:127
11	9748483	.	T	C	9063.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2453831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2453831" target="_blank">rs2453831</a>;ExAC.Info.AC=3914;ExAC.Info.AN=15096;ExAC.Info.AF=0.259;ExAC.Info.AC_Het=2373;ExAC.Info.AC_Hom=518;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.643-1117T>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.643T>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.643T>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.643T>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.643T>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.643T>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.643T>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318950;SAVANT_GENE=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;SAVANT_INFO=+/88.9kb/12/4.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.643-1117T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SWAP70+c.643-1117T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9748483">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,35:64:99:1033,0,785:127	1|1:0,76:76:99:2764,228,0:127	0|0:78,0:78:99:0,235,2769:127
11	9749645	.	A	C	7419.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs397686;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=397686" target="_blank">rs397686</a>;ExAC.Info.AC=38834;ExAC.Info.AN=126704;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=26111;ExAC.Info.AC_Hom=6349;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.688A>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.688A>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.688A>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.688A>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.688A>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Aga/Cga;snpeff.Amino_Acid_Change=p.Arg230Arg/c.688A>C;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318950;SAVANT_GENE=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;SAVANT_INFO=+/88.9kb/12/4.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.688A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SWAP70+c.688A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9749645">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,33:67:99:882,0,930:127	1|1:0,70:70:99:2308,210,0:127	0|0:65,0:65:99:0,195,2213:127
11	9759713	.	T	G	19374.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs93138;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=93138" target="_blank">rs93138</a>;ExAC.Info.AC=69202;ExAC.Info.AN=125854;ExAC.Info.AF=0.550;ExAC.Info.AC_Het=23983;ExAC.Info.AC_Hom=15857;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1081-47T>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1081T>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1081T>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1081T>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1081T>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1081T>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318950;SAVANT_GENE=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;SAVANT_INFO=+/88.9kb/12/4.9kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1081-47T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SWAP70+c.1081-47T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9759713">View</a>	GT:AD:DP:GQ:PL:TP	0|1:84,59:143:99:1493,0,2189:127	1|1:0,152:152:99:5249,457,0:127	0|1:84,67:151:99:1849,0,2333:127
11	9769562	.	C	G	18420.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=402;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs415895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=415895" target="_blank">rs415895</a>;ExAC.Info.AC=78772;ExAC.Info.AN=126704;ExAC.Info.AF=0.622;ExAC.Info.AC_Het=28568;ExAC.Info.AC_Hom=25088;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1513C>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1513C>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1513C>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1513C>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1513C>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cag/Gag;snpeff.Amino_Acid_Change=p.Gln505Glu/c.1513C>G;snpeff.Amino_Acid_length=585;snpeff.Gene_Name=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000318950;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000318950;SAVANT_GENE=SWAP70;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SWAP70" target="_blank">SWAP70</a>;SAVANT_INFO=+/88.9kb/12/4.9kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1513C>G_p.Gln505Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SWAP70+c.1513C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9769562">View</a>	GT:AD:DP:GQ:PL:TP	0|1:65,58:123:99:1562,0,1994:127	1|1:0,154:154:99:5278,463,0:127	0|1:63,62:125:99:1695,0,1824:127
11	9801925	.	T	G	16930.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=878;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbSNP139.ID=rs3751000;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3751000" target="_blank">rs3751000</a>;ExAC.Info.AC=38026;ExAC.Info.AN=126668;ExAC.Info.AF=0.300;ExAC.Info.AC_Het=25471;ExAC.Info.AC_Hom=5736;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.212+21875T>G;snpeff.Gene_Name=SBF2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000498905;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=40;snpeff.Amino_Acid_Change=c.*40A>C;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*40A>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.*40A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9801925">View</a>	GT:AD:DP:GQ:PL:TP	1|0:143,116:259:99:3262,0,4067:127	0|0:354,0:354:99:0,1064,12140:127	1|0:135,130:265:99:3940,0,3781:127
11	9805846	.	G	A	6295.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=293;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbSNP139.ID=rs35103525;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35103525" target="_blank">rs35103525</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5319+52C>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.213-23549G>A;snpeff.Gene_Name=SBF2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000498905;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5320G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5320G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5320G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5320G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=40;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.5319+52C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.5319+52C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9805846">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,45:98:99:1086,0,1415:127	0|0:102,0:102:99:0,306,3707:127	1|0:44,49:93:99:1450,0,1384:127
11	9806914	.	T	TACTG	6038.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbSNP139.ID=rs71453928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71453928" target="_blank">rs71453928</a>;ExAC.Info.AC=59930;ExAC.Info.AN=126634;ExAC.Info.AF=0.473;ExAC.Info.AC_Het=30205;ExAC.Info.AC_Hom=14077;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5038-49_5038-50insCAGT;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.213-22480_213-22479insACTG;snpeff.Gene_Name=SBF2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000498905;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MTMR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5038_5039insACTG;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MTMR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5038_5039insACTG;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MTMR2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5038_5039insACTG;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=In36/37;SAVANT_HGVS=c.5038-53_5038-50dupCAGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.5038-53_5038-50dupCAGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9806914">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,26:47:99:1028,0,869:116	0|0:56,0:56:99:0,170,2652:116	1|1:0,38:38:99:1736,117,0:116
11	9812236	.	G	A	37989.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=548;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbSNP139.ID=rs2645029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2645029" target="_blank">rs2645029</a>;ExAC.Info.AC=108585;ExAC.Info.AN=126464;ExAC.Info.AF=0.859;ExAC.Info.AC_Het=14325;ExAC.Info.AC_Hom=46223;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4571-6C>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.213-17159G>A;snpeff.Gene_Name=SBF2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000498905;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4571G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4571G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4571G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4571G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4571G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4571G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4571G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4571G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4571G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4571G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4571C>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.4571-6C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.4571-6C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9812236">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,182:182:99:5942,547,0:127	1|1:0,182:182:99:6253,547,0:127	1|1:0,184:184:99:6532,553,0:127
11	9830595	.	G	A	21407.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=455;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbSNP139.ID=rs11042500;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11042500" target="_blank">rs11042500</a>;ExAC.Info.AC=53907;ExAC.Info.AN=126684;ExAC.Info.AF=0.426;ExAC.Info.AC_Het=26885;ExAC.Info.AC_Hom=13034;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1413G>A;snpeff.Gene_Name=SBF2-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000498905;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4156-46C>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4156G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4156G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4156G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4156G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4156G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4156G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4156G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4156G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4156G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4156G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2-AS1" target="_blank">SBF2-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=In30/31;SAVANT_HGVS=c.4156-46C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.4156-46C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9830595">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,79:153:99:2188,0,2161:127	1|1:0,160:160:99:5669,481,0:127	0|1:65,77:142:99:1998,0,1974:127
11	9861009	.	G	A	65166.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=915;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbSNP139.ID=rs7483882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7483882" target="_blank">rs7483882</a>;ExAC.Info.AC=97977;ExAC.Info.AN=126702;ExAC.Info.AF=0.773;ExAC.Info.AC_Het=18673;ExAC.Info.AC_Hom=39514;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.134+186G>A;snpeff.Gene_Name=RP11-1H15.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533659;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3455+36C>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3456G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3456G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3456G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3456G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3456G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3456G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3456G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3456G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3456G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Myotubularin_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3456G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3455+36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.3455+36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9861009">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,311:311:99:10623,935,0:127	1|1:0,316:316:99:11044,949,0:127	1|1:0,288:288:99:10085,866,0:127
11	9879838	.	C	T	4142.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7102464;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7102464" target="_blank">rs7102464</a>;ExAC.Info.AC=9733;ExAC.Info.AN=126704;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=8557;ExAC.Info.AC_Hom=587;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.134+19015C>T;snpeff.Gene_Name=RP11-1H15.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533659;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Aaa;snpeff.Amino_Acid_Change=p.Glu679Lys/c.2035G>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1H152" target="_blank">RP11-1H152</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2035G>A_p.Glu679Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.2035G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9879838">View</a>	GT:AD:DP:GQ:PL:TP	0|0:125,0:125:99:0,376,4330:127	0|1:71,72:143:99:2090,0,2163:127	0|0:118,0:118:99:0,355,4081:127
11	9917620	.	G	C	6544.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbSNP139.ID=rs4910073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4910073" target="_blank">rs4910073</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1861-62C>G;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.135-19533G>C;snpeff.Gene_Name=RP11-1H15.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533659;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1861-62C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.1861-62C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9917620">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,44:90:99:1257,0,1298:127	0|0:124,0:124:99:0,373,4497:127	1|0:50,55:105:99:1640,0,1374:127
11	9983446	.	T	C	1250.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbSNP139.ID=rs61876983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61876983" target="_blank">rs61876983</a>;ExAC.Info.AC=13154;ExAC.Info.AN=126652;ExAC.Info.AF=0.104;ExAC.Info.AC_Het=11332;ExAC.Info.AC_Hom=812;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1860+58A>G;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1860+58A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.1860+58A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9983446">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1570:98	0|1:36,22:58:99:644,0,1209:98	0|0:33,0:33:99:0,99,1334:98
11	9983738	.	G	A	2526.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbSNP139.ID=rs7117364;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7117364" target="_blank">rs7117364</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1711-85C>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1711-85C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.1711-85C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:9983738">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2588:127	0|1:28,44:72:99:1282,0,864:127	0|0:54,0:54:99:0,162,1964:127
11	10019879	.	G	A	15097.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=811;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbSNP139.ID=rs16907355;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=16907355" target="_blank">rs16907355</a>;ExAC.Info.AC=9566;ExAC.Info.AN=126702;ExAC.Info.AF=0.075;ExAC.Info.AC_Het=8523;ExAC.Info.AC_Hom=519;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000127863;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro303Pro/c.909C>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.909C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.909C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10019879">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000127863" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:103,121:224:99:3334,0,2695:127	1|0:147,135:282:99:3791,0,3960:127	0|0:305,0:305:99:0,915,9787:127
11	10022585	.	A	T	1334.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3)|Charcot-Marie-Tooth_disease|_type_4B2|_604563_(3);dbSNP139.ID=rs7128234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7128234" target="_blank">rs7128234</a>;ExAC.Info.AC=22762;ExAC.Info.AN=126622;ExAC.Info.AF=0.180;ExAC.Info.AC_Het=17899;ExAC.Info.AC_Hom=2147;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.753-16T>A;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753A>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753A>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753A>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753A>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753A>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753A>T;snpeff.Amino_Acid_length=1849;snpeff.Gene_Name=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256190;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256190;SAVANT_GENE=SBF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SBF2" target="_blank">SBF2</a>;SAVANT_INFO=-/515.5kb/40/7.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.753-16T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SBF2+c.753-16T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10022585">View</a>	GT:AD:DP:GQ:PL:TP	0|0:40,0:40:99:0,120,1380:120	0|1:25,25:50:99:686,0,709:120	0|0:68,0:68:99:0,204,2382:120
11	10325325	.	C	A	5998.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=555;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11042725;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11042725" target="_blank">rs11042725</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Altered_transcriptional_activity;hgmd_2014.2.OMIM_ID=103275;hgmd_2014.2.PubMed=19636336;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19636336" target="_blank">19636336</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19636336" target="_blank">19636336</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10325325">View</a>	GT:AD:DP:GQ:PL:TP	0|0:148,0:148:99:0,445,5060:127	0|1:98,109:207:99:3018,0,2855:127	0|0:198,2:200:99:0,551,6680:127
11	10327864	.	T	C	363.04	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=1511;ExAC.Info.AN=126558;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=996;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.249-15T>C;snpeff.Amino_Acid_length=185;snpeff.Gene_Name=ADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADM" target="_blank">ADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278175;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528655;SAVANT_GENE=ADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADM" target="_blank">ADM</a>;SAVANT_INFO=+/2.3kb/3/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.249-15T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADM+c.249-15T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10327864">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,20:98:29:29,0,3372:27	1|0:89,35:124:99:148,0,3821:27	0|0:73,23:96:32:0,32,3781:27
11	10327871	.	G	C	5984.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=7587;ExAC.Info.AN=126582;ExAC.Info.AF=0.060;ExAC.Info.AC_Het=7499;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.249-8G>C;snpeff.Amino_Acid_length=185;snpeff.Gene_Name=ADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADM" target="_blank">ADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278175;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528655;SAVANT_GENE=ADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADM" target="_blank">ADM</a>;SAVANT_INFO=+/2.3kb/3/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.249-8G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADM+c.249-8G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10327871">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,32:95:99:698,0,3169:127	0/1:77,53:130:99:1230,0,4168:127	0/1:64,35:99:99:528,0,3531:127
11	10327875	.	G	C	5612.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=1142;ExAC.Info.AN=126604;ExAC.Info.AF=9.020e-03;ExAC.Info.AC_Het=1094;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.249-4G>C;snpeff.Amino_Acid_length=185;snpeff.Gene_Name=ADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADM" target="_blank">ADM</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278175;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528655;SAVANT_GENE=ADM;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADM" target="_blank">ADM</a>;SAVANT_INFO=+/2.3kb/3/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.249-4G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ADM+c.249-4G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10327875">View</a>	GT:AD:DP:GQ:PL:TP	0/1:61,7:68:99:649,0,3224:127	0/1:83,9:92:99:1148,0,4340:127	0/1:67,4:71:99:495,0,3670:127
11	10521749	.	C	T	9104.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=928;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=[AMP_deaminase_deficiency|_erythrocytic]|_612874_(3);dbSNP139.ID=rs114718879;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=114718879" target="_blank">rs114718879</a>;ExAC.Info.AC=2600;ExAC.Info.AN=126704;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2516;ExAC.Info.AC_Hom=42;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr567Tyr/c.1701C>T;snpeff.Amino_Acid_length=776;snpeff.Gene_Name=AMPD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD3" target="_blank">AMPD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396554;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396554;SAVANT_GENE=AMPD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD3" target="_blank">AMPD3</a>;SAVANT_INFO=+/56.3kb/15/3.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1701C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMPD3+c.1701C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10521749">View</a>	GT:AD:DP:GQ:PL:TP	0|0:276,0:276:99:0,830,10743:127	0|1:157,170:327:99:4571,0,4167:127	0|0:325,0:325:99:0,990,14124:127
11	10521764	.	T	C	27458.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=846;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=[AMP_deaminase_deficiency|_erythrocytic]|_612874_(3);dbSNP139.ID=rs3741041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3741041" target="_blank">rs3741041</a>;ExAC.Info.AC=51800;ExAC.Info.AN=126704;ExAC.Info.AF=0.409;ExAC.Info.AC_Het=28367;ExAC.Info.AC_Hom=11713;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr572Tyr/c.1716T>C;snpeff.Amino_Acid_length=776;snpeff.Gene_Name=AMPD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD3" target="_blank">AMPD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396554;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396554;SAVANT_GENE=AMPD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD3" target="_blank">AMPD3</a>;SAVANT_INFO=+/56.3kb/15/3.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1716T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMPD3+c.1716T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10521764">View</a>	GT:AD:DP:GQ:PL:TP	1|0:123,126:249:99:3304,0,3256:127	0|0:304,0:304:99:0,917,11864:127	1|1:0,293:293:99:9572,880,0:127
11	10521850	.	G	A	14034.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=[AMP_deaminase_deficiency|_erythrocytic]|_612874_(3);dbSNP139.ID=rs3741039;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3741039" target="_blank">rs3741039</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1748+54G>A;snpeff.Amino_Acid_length=776;snpeff.Gene_Name=AMPD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD3" target="_blank">AMPD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396554;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396554;SAVANT_GENE=AMPD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD3" target="_blank">AMPD3</a>;SAVANT_INFO=+/56.3kb/15/3.8kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1748+54G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMPD3+c.1748+54G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10521850">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:2148,184,0:127	1|0:44,33:77:99:998,0,1548:127	1|1:0,81:81:99:2962,244,0:127
11	10526060	.	C	T	24729.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=710;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=[AMP_deaminase_deficiency|_erythrocytic]|_612874_(3);dbSNP139.ID=rs7943804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7943804" target="_blank">rs7943804</a>;ExAC.Info.AC=111884;ExAC.Info.AN=126700;ExAC.Info.AF=0.883;ExAC.Info.AC_Het=12823;ExAC.Info.AC_Hom=49508;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2044-36C>T;snpeff.Amino_Acid_length=776;snpeff.Gene_Name=AMPD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD3" target="_blank">AMPD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396554;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396554;SAVANT_GENE=AMPD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMPD3" target="_blank">AMPD3</a>;SAVANT_INFO=+/56.3kb/15/3.8kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.2044-36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMPD3+c.2044-36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10526060">View</a>	GT:AD:DP:GQ:PL:TP	1|0:105,113:218:99:3172,0,2986:127	0|0:262,1:263:99:0,750,9063:127	1|1:0,229:229:99:8062,688,0:127
11	10555586	.	C	G	7083.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=282;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72859181;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72859181" target="_blank">rs72859181</a>;ExAC.Info.AC=1799;ExAC.Info.AN=126696;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1750;ExAC.Info.AC_Hom=24;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggC;snpeff.Amino_Acid_Change=p.Gly40Gly/c.120G>C;snpeff.Amino_Acid_length=230;snpeff.Gene_Name=RNF141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF141" target="_blank">RNF141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265981;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265981;SAVANT_GENE=RNF141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF141" target="_blank">RNF141</a>;SAVANT_INFO=-/29.5kb/6/4.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.120G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF141+c.120G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10555586">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,44:92:99:1177,0,1865:127	1|0:54,54:108:99:1623,0,1726:127	0|0:82,0:82:99:0,250,3707:127
11	10555589	.	A	G	9994.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1065052;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1065052" target="_blank">rs1065052</a>;ExAC.Info.AC=51342;ExAC.Info.AN=126696;ExAC.Info.AF=0.405;ExAC.Info.AC_Het=27979;ExAC.Info.AC_Hom=11664;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu39Leu/c.117T>C;snpeff.Amino_Acid_length=230;snpeff.Gene_Name=RNF141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF141" target="_blank">RNF141</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265981;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265981;SAVANT_GENE=RNF141;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF141" target="_blank">RNF141</a>;SAVANT_INFO=-/29.5kb/6/4.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.117T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RNF141+c.117T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10555589">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,45:89:99:1203,0,1693:127	0|0:110,0:110:99:0,331,4484:127	1|1:0,82:82:99:2922,246,0:127
11	10581357	.	C	T	6633.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs116575936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=116575936" target="_blank">rs116575936</a>;ExAC.Info.AC=1582;ExAC.Info.AN=126704;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1542;ExAC.Info.AC_Hom=18;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MRVI1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.782+6G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256178;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.783C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256178;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.783C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256178;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.783G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256178;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256178;SAVANT_GENE=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYVE1" target="_blank">LYVE1</a>;SAVANT_INFO=-/11.7kb/6/3.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.782+6G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYVE1+c.782+6G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10581357">View</a>	GT:AD:DP:GQ:PL:TP	0|1:76,47:123:99:1144,0,2044:127	1|0:74,64:138:99:1688,0,2188:127	0|0:135,0:135:99:0,405,4710:127
11	10582240	.	A	G	11230.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=527;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72861055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72861055" target="_blank">rs72861055</a>;ExAC.Info.AC=2;ExAC.Info.AN=126704;ExAC.Info.AF=1.578e-05;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MRVI1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505A>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256178;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505A>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256178;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505A>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256178;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505A>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256178;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505A>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256178;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tac/Cac;snpeff.Amino_Acid_Change=p.Tyr169His/c.505T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256178;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256178;SAVANT_GENE=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYVE1" target="_blank">LYVE1</a>;SAVANT_INFO=-/11.7kb/6/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.505T>C_p.Tyr169His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LYVE1+c.505T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10582240">View</a>	GT:AD:DP:GQ:PL:TP	0|1:94,62:156:99:1681,0,2551:127	1|0:102,93:195:99:2617,0,2740:127	0|0:176,0:176:99:0,529,5995:127
11	10614988	.	G	T	2006.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=54;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs55676441;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55676441" target="_blank">rs55676441</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.245G>T;snpeff.Gene_Name=MRVI1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000525578;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2175+51C>A;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423302;SAVANT_GENE=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;SAVANT_INFO=-/120.7kb/21/6.1kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2175+51C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRVI1+c.2175+51C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10614988">View</a>	GT:AD:DP:GQ:PL:TP	0|1:7,11:18:99:438,0,348:63	1|0:7,9:16:99:357,0,405:63	0|0:20,0:20:63:0,63,1400:63
11	10614989	.	A	T	2006.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=56;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56399907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56399907" target="_blank">rs56399907</a>;ExAC.Info.AC=1673;ExAC.Info.AN=126396;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1608;ExAC.Info.AC_Hom=18;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.246A>T;snpeff.Gene_Name=MRVI1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000525578;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2175+50T>A;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1-AS1" target="_blank">MRVI1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423302;SAVANT_GENE=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;SAVANT_INFO=-/120.7kb/21/6.1kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2175+50T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRVI1+c.2175+50T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10614989">View</a>	GT:AD:DP:GQ:PL:TP	0|1:8,11:19:99:438,0,348:63	1|0:7,9:16:99:357,0,405:63	0|0:21,0:21:63:0,63,1400:63
11	10624847	.	A	G	15.28	LowQual	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=43;MQ=70.00;MQ0=0;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=LYVE1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYVE1" target="_blank">LYVE1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1744-49T>C;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYVE1" target="_blank">LYVE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1744A>G;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYVE1" target="_blank">LYVE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1744A>G;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYVE1" target="_blank">LYVE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1744A>G;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LYVE1" target="_blank">LYVE1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423302;SAVANT_GENE=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;SAVANT_INFO=-/120.7kb/21/6.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1744-49T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRVI1+c.1744-49T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10624847">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,2:11:48:48,0,288:6	0|0:18,0:18:54:0,54,655:6	1|0:14,0:14:0:0,42,469:6
11	10647702	.	G	A	17716.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2241489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2241489" target="_blank">rs2241489</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=60389;ExAC.Info.AN=124140;ExAC.Info.AF=0.486;ExAC.Info.AC_Het=27187;ExAC.Info.AC_Hom=14542;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu393Leu/c.1179C>T;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423302;SAVANT_GENE=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;SAVANT_INFO=-/120.7kb/21/6.1kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1179C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRVI1+c.1179C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10647702">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2676,252,0:127	1|0:40,45:85:99:1213,0,1174:127	1|1:0,71:71:99:2368,213,0:127
11	10649161	.	C	A	7944.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1425152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1425152" target="_blank">rs1425152</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.750+102G>T;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423302;SAVANT_GENE=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;SAVANT_INFO=-/120.7kb/21/6.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.750+102G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRVI1+c.750+102G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10649161">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1439,135,0:83	1|0:23,24:47:99:710,0,785:83	1|1:0,28:28:84:1020,84,0:83
11	10650329	.	C	T	17134.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2278125;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2278125" target="_blank">rs2278125</a>;ExAC.Info.AC=67170;ExAC.Info.AN=123248;ExAC.Info.AF=0.545;ExAC.Info.AC_Het=20339;ExAC.Info.AC_Hom=13100;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgA;snpeff.Amino_Acid_Change=p.Arg207Arg/c.621G>A;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423302;SAVANT_GENE=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;SAVANT_INFO=-/120.7kb/21/6.1kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.621G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRVI1+c.621G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10650329">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3049,291,0:127	1|0:48,46:94:99:1290,0,1456:127	1|1:0,85:85:99:2904,255,0:127
11	10655609	.	C	T	8770.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2162044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2162044" target="_blank">rs2162044</a>;ExAC.Info.AC=121950;ExAC.Info.AN=124806;ExAC.Info.AF=0.977;ExAC.Info.AC_Het=2504;ExAC.Info.AC_Hom=57019;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala79Thr/c.235G>A;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423302;SAVANT_GENE=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;SAVANT_INFO=-/120.7kb/21/6.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.235G>A_p.Ala79Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRVI1+c.235G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10655609">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,39:70:99:1026,0,973:127	0|1:56,36:92:99:995,0,1847:127	1|1:0,54:54:99:2090,162,0:127
11	10655623	.	C	T	1180.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs11042902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11042902" target="_blank">rs11042902</a>;ExAC.Info.AC=30072;ExAC.Info.AN=124780;ExAC.Info.AF=0.241;ExAC.Info.AC_Het=19423;ExAC.Info.AC_Hom=3604;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.226-5G>A;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.226G>A;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423302;SAVANT_GENE=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;SAVANT_INFO=-/120.7kb/21/6.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.226-5G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRVI1+c.226-5G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10655623">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2465:127	0|0:76,0:76:99:0,229,3379:127	0|1:25,20:45:99:609,0,690:127
11	10673739	.	T	C	8167.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4909945;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4909945" target="_blank">rs4909945</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=94674;ExAC.Info.AN=124918;ExAC.Info.AF=0.758;ExAC.Info.AC_Het=20748;ExAC.Info.AC_Hom=36430;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.68-10A>G;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423302;SAVANT_GENE=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;SAVANT_INFO=-/120.7kb/21/6.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.68-10A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRVI1+c.68-10A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10673739">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,33:68:99:961,0,963:127	0/1:61,52:113:99:1437,0,1592:127	0/1:52,30:82:99:785,0,1535:127
11	10711918	.	TA	T	315.39	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.67+3164delT;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000423302;SAVANT_GENE=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;SAVANT_INFO=-/120.7kb/21/6.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.67+3164delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRVI1+c.67+3164delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10711918">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,4:31:11:11,0,603:11	1|0:37,6:43:30:30,0,782:11	0|0:40,4:44:27:0,27,924:11
11	10715124	.	T	C	854.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10770136;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10770136" target="_blank">rs10770136</a>;ExAC.Info.AC=10178;ExAC.Info.AN=14740;ExAC.Info.AF=0.691;ExAC.Info.AC_Het=2171;ExAC.Info.AC_Hom=3209;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gGg;snpeff.Amino_Acid_Change=p.Glu9Gly/c.26A>G;snpeff.Amino_Acid_length=912;snpeff.Gene_Name=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000423302;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000423302;SAVANT_GENE=MRVI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRVI1" target="_blank">MRVI1</a>;SAVANT_INFO=-/120.7kb/21/6.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.26A>G_p.Glu9Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRVI1+c.26A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10715124">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,0:45:99:0,135,1401:127	0|0:49,0:49:99:0,147,1641:127	0|1:16,15:31:99:446,0,430:127
11	10786175	.	C	T	21482.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7118399;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7118399" target="_blank">rs7118399</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=31839;ExAC.Info.AN=126684;ExAC.Info.AF=0.251;ExAC.Info.AC_Het=23208;ExAC.Info.AC_Hom=4111;snpeff.Effect=sequence_feature[repeat:TPR_10];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1494C>T;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=CTR9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTR9" target="_blank">CTR9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361367;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr498Thr/c.1494C>T;snpeff.Amino_Acid_length=1173;snpeff.Gene_Name=CTR9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTR9" target="_blank">CTR9</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361367;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361367;SAVANT_GENE=CTR9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTR9" target="_blank">CTR9</a>;SAVANT_INFO=+/28.8kb/25/4.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1494C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTR9+c.1494C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10786175">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:3257,309,0:127	1|0:75,52:127:99:1368,0,2322:127	1|1:0,131:131:99:4273,393,0:127
11	10821055	.	C	T	6987.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3736327;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736327" target="_blank">rs3736327</a>;ExAC.Info.AC=80852;ExAC.Info.AN=126664;ExAC.Info.AF=0.638;ExAC.Info.AC_Het=28681;ExAC.Info.AC_Hom=25880;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2324+44G>A;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271-1947C>T;snpeff.Gene_Name=RP11-685M7.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532365;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2324+44G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.2324+44G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10821055">View</a>	GT:AD:DP:GQ:PL:TP	0/1:27,42:69:99:1152,0,800:127	0/1:39,32:71:99:955,0,1299:127	0/1:37,45:82:99:1230,0,1039:127
11	10822202	.	G	A	11719.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4910190;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4910190" target="_blank">rs4910190</a>;ExAC.Info.AC=72856;ExAC.Info.AN=126700;ExAC.Info.AF=0.575;ExAC.Info.AC_Het=28796;ExAC.Info.AC_Hom=22008;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1645-8C>T;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271-800G>A;snpeff.Gene_Name=RP11-685M7.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532365;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1645C>T;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1645-8C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.1645-8C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10822202">View</a>	GT:AD:DP:GQ:PL:TP	0/1:65,65:130:99:1784,0,1732:127	0/1:69,72:141:99:2168,0,2161:127	0/1:56,46:102:99:1316,0,1648:127
11	10822350	.	C	T	43796.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=575;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7951708;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7951708" target="_blank">rs7951708</a>;ExAC.Info.AC=126366;ExAC.Info.AN=126704;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=330;ExAC.Info.AC_Hom=63012;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.271-652C>T;snpeff.Gene_Name=RP11-685M7.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-685M75" target="_blank">RP11-685M75</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532365;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro524Pro/c.1572G>A;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-685M75" target="_blank">RP11-685M75</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1572G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.1572G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10822350">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,193:193:99:6342,578,0:127	1|1:0,199:199:99:6758,597,0:127	1|1:1,182:183:99:6344,540,0:127
11	10823038	.	G	A	1352.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7103202;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7103202" target="_blank">rs7103202</a>;ExAC.Info.AC=6557;ExAC.Info.AN=125302;ExAC.Info.AF=0.052;ExAC.Info.AC_Het=5990;ExAC.Info.AC_Hom=211;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.118C>T;snpeff.Gene_Name=SNORD97;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORD97" target="_blank">SNORD97</a>;snpeff.Transcript_BioType=snoRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000459187;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.307G>A;snpeff.Gene_Name=RP11-685M7.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORD97" target="_blank">SNORD97</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532365;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1413+170C>T;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORD97" target="_blank">SNORD97</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1413+170C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.1413+170C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10823038">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,703:59	0|1:14,21:35:99:695,0,419:59	0|0:22,0:22:66:0,66,828:59
11	10823079	.	T	C	3445.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10840492;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10840492" target="_blank">rs10840492</a>;ExAC.Info.AC=72465;ExAC.Info.AN=126088;ExAC.Info.AF=0.575;ExAC.Info.AC_Het=28157;ExAC.Info.AC_Hom=21699;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.77A>G;snpeff.Gene_Name=SNORD97;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORD97" target="_blank">SNORD97</a>;snpeff.Transcript_BioType=snoRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000459187;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.348T>C;snpeff.Gene_Name=RP11-685M7.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORD97" target="_blank">SNORD97</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532365;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1413+129A>G;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNORD97" target="_blank">SNORD97</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1413+129A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.1413+129A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10823079">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,24:42:99:629,0,467:127	0/1:31,16:47:99:451,0,997:127	0/1:23,20:43:99:643,0,695:127
11	10823576	.	C	CACACTCCTAAAATAGTTTCATGTTTTAATAGCAAATGAAATCACATATATTGCAGAATTTAACATTTGTTGCCTAA	16211.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=16;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1299+20_1299+19insTTAGGCAACAAATGTTAAATTCTGCAATATATGTGATTTCATTTGCTATTAAAACATGAAACTATTTTAGGAGTGT;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=Insertion;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1299+19_1299+20insTTAGGCAACAAATGTTAAATTCTGCAATATATGTGATTTCATTTGCTATTAAAACATGAAACTATTTTAGGAGTGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.1299+19_1299+20insTTAGGCAACAAATGTTAAATTCTGCAATATATGTGATTTCATTTGCTATTAAAACATGAAACTATTTTAGGAGTGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10823576">View</a>	GT:AD:DP:GQ:PL	./1:0,2:4:99:2451,611,455	./1:0,3:7:99:2454,698,543	./1:0,2:5:99:2475,794,645
11	10823576	.	C	CACACTCCTAAAATAGTTTCATGTTTTAATAGCAAATGAAATCACATATATTGCATAATTTAACATTTGTTGCCTAA	16211.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=16;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1299+20_1299+19insTTAGGCAACAAATGTTAAATTATGCAATATATGTGATTTCATTTGCTATTAAAACATGAAACTATTTTAGGAGTGT;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=Insertion;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1299+19_1299+20insTTAGGCAACAAATGTTAAATTATGCAATATATGTGATTTCATTTGCTATTAAAACATGAAACTATTTTAGGAGTGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.1299+19_1299+20insTTAGGCAACAAATGTTAAATTATGCAATATATGTGATTTCATTTGCTATTAAAACATGAAACTATTTTAGGAGTGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10823576">View</a>	GT:AD:DP:GQ:PL	./1:0,2:4:99:2451,704,561	./1:0,4:7:99:2454,1048,922	./1:0,3:5:99:2475,736,597
11	10823815	.	C	T	32534.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7105210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7105210" target="_blank">rs7105210</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1138+26G>A;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1138+26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.1138+26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10823815">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:3705,327,0:127	1|1:0,184:184:99:6218,552,0:127	1|1:0,124:124:99:4312,372,0:127
11	10824731	.	C	T	13793.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2270620;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270620" target="_blank">rs2270620</a>;ExAC.Info.AC=76075;ExAC.Info.AN=126680;ExAC.Info.AF=0.601;ExAC.Info.AC_Het=27986;ExAC.Info.AC_Hom=23701;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.897+27G>A;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.897+27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.897+27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10824731">View</a>	GT:AD:DP:GQ:PL:TP	0/1:73,64:137:99:1777,0,2198:127	0/1:83,83:166:99:2514,0,2372:127	0/1:76,77:153:99:2358,0,2360:127
11	10825671	.	C	T	6213.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72854312;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72854312" target="_blank">rs72854312</a>;ExAC.Info.AC=1453;ExAC.Info.AN=126696;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1427;ExAC.Info.AC_Hom=12;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.550+13G>A;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.550+13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.550+13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10825671">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,40:82:99:1219,0,1232:127	0|0:132,0:132:99:0,396,4923:127	1|0:60,39:99:99:1133,0,1879:127
11	10828333	.	T	C	2840.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs61874162;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61874162" target="_blank">rs61874162</a>;ExAC.Info.AC=5148;ExAC.Info.AN=126704;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4865;ExAC.Info.AC_Hom=140;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.107+34A>G;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.107+34A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.107+34A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10828333">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,0:111:99:0,333,3483:127	0|0:111,0:111:99:0,334,3804:127	0|1:48,50:98:99:1439,0,1345:127
11	10828361	.	C	A	10810.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=404;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10743151;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10743151" target="_blank">rs10743151</a>;ExAC.Info.AC=72771;ExAC.Info.AN=126704;ExAC.Info.AF=0.574;ExAC.Info.AC_Het=28795;ExAC.Info.AC_Hom=21980;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.107+6G>T;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.108G>T;snpeff.Amino_Acid_length=907;snpeff.Gene_Name=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525681;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000526148;SAVANT_GENE=EIF4G2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF4G2" target="_blank">EIF4G2</a>;SAVANT_INFO=-/10.9kb/22/4.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.107+6G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EIF4G2+c.107+6G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10828361">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,72:135:99:1900,0,1811:127	0/1:81,72:153:99:1861,0,2404:127	0/1:59,57:116:99:1476,0,1792:127
11	10874594	.	A	G	3392.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=450;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2232928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232928" target="_blank">rs2232928</a>;ExAC.Info.AC=1156;ExAC.Info.AN=26800;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=1036;ExAC.Info.AC_Hom=40;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgC;snpeff.Amino_Acid_Change=p.Arg633Arg/c.1899T>C;snpeff.Amino_Acid_length=693;snpeff.Gene_Name=ZBED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBED5" target="_blank">ZBED5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000432999;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000432999;SAVANT_GENE=ZBED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBED5" target="_blank">ZBED5</a>;SAVANT_INFO=-/5.4kb/3/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1899T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBED5+c.1899T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10874594">View</a>	GT:AD:DP:GQ:PL:TP	0|0:133,0:133:99:0,400,4452:127	0|1:106,66:172:99:1715,0,3023:127	0|0:145,0:145:99:0,435,4692:127
11	10876353	.	T	C	3280.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2232919;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232919" target="_blank">rs2232919</a>;ExAC.Info.AC=1384;ExAC.Info.AN=29700;ExAC.Info.AF=0.047;ExAC.Info.AC_Het=1256;ExAC.Info.AC_Hom=49;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAa/cGa;snpeff.Amino_Acid_Change=p.Gln47Arg/c.140A>G;snpeff.Amino_Acid_length=693;snpeff.Gene_Name=ZBED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBED5" target="_blank">ZBED5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000432999;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000432999;SAVANT_GENE=ZBED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBED5" target="_blank">ZBED5</a>;SAVANT_INFO=-/5.4kb/3/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.140A>G_p.Gln47Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBED5+c.140A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10876353">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,213,2273:127	0|1:47,58:105:99:1659,0,1289:127	0|0:88,0:88:99:0,264,2918:127
11	10876443	.	G	A	2008.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2232918;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2232918" target="_blank">rs2232918</a>;ExAC.Info.AC=1316;ExAC.Info.AN=29512;ExAC.Info.AF=0.045;ExAC.Info.AC_Het=1160;ExAC.Info.AC_Hom=46;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala17Val/c.50C>T;snpeff.Amino_Acid_length=693;snpeff.Gene_Name=ZBED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBED5" target="_blank">ZBED5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000432999;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000432999;SAVANT_GENE=ZBED5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZBED5" target="_blank">ZBED5</a>;SAVANT_INFO=-/5.4kb/3/2.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.50C>T_p.Ala17Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZBED5+c.50C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:10876443">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1794:127	0|1:41,35:76:99:1023,0,1236:127	0|0:63,0:63:99:0,189,2264:127
11	11292700	.	G	C	2804.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs10831567;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10831567" target="_blank">rs10831567</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=52525;ExAC.Info.AN=126698;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=30153;ExAC.Info.AC_Hom=11112;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1815G>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctG;snpeff.Amino_Acid_Change=p.Leu605Leu/c.1815C>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1815C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.1815C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11292700">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,19:46:99:568,0,759:123	0|0:41,0:41:99:0,123,1474:123	1|0:11,14:25:99:440,0,333:123
11	11292859	.	G	T	6443.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12282460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12282460" target="_blank">rs12282460</a>;ExAC.Info.AC=25510;ExAC.Info.AN=126694;ExAC.Info.AF=0.201;ExAC.Info.AC_Het=20108;ExAC.Info.AC_Hom=2648;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1678-22C>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1678-22C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.1678-22C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11292859">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,27:55:99:1029,0,1984:127	0|0:82,0:82:99:0,250,5847:127	1|0:25,29:54:99:1139,0,1668:127
11	11292864	.	C	T	6311.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12282401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12282401" target="_blank">rs12282401</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1678-27G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ricin_B-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1678C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1678-27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.1678-27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11292864">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,27:55:99:1029,0,1984:127	0|0:81,0:81:99:0,250,5838:127	1|0:26,29:55:99:1139,0,1668:127
11	11354346	.	T	C	3316.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs901553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=901553" target="_blank">rs901553</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=52663;ExAC.Info.AN=126704;ExAC.Info.AF=0.416;ExAC.Info.AC_Het=29690;ExAC.Info.AC_Hom=11469;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala437Ala/c.1311A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1311A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.1311A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11354346">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,14:24:99:449,0,287:83	0|0:43,0:43:99:0,129,1466:83	1|1:0,28:28:84:1003,84,0:83
11	11373587	.	A	G	33196.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=368;MQ=69.63;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7945066;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7945066" target="_blank">rs7945066</a>;ExAC.Info.AC=124914;ExAC.Info.AN=126680;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1521;ExAC.Info.AC_Hom=61626;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1093-11036T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr360Thr/c.1080T>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1093-11036T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.1093-11036T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11373587">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4276,366,0:127	1|1:0,126:126:99:4517,378,0:127	1|1:0,120:120:99:4297,361,0:127
11	11373635	.	C	T	41066.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=518;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1056963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1056963" target="_blank">rs1056963</a>;ExAC.Info.AC=124873;ExAC.Info.AN=126698;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1574;ExAC.Info.AC_Hom=61632;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1093-11084G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr344Thr/c.1032G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1093-11084G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.1093-11084G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11373635">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,189:189:99:5715,565,0:127	1|1:0,172:172:99:5573,515,0:127	1|1:0,157:157:99:5080,471,0:127
11	11373808	.	T	G	28816.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=340;MQ=69.82;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1056951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1056951" target="_blank">rs1056951</a>;ExAC.Info.AC=124814;ExAC.Info.AN=126704;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1629;ExAC.Info.AC_Hom=61570;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1093-11257A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.859T>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[amino_acid_modification:Phosphoserine];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.859T>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Cgt;snpeff.Amino_Acid_Change=p.Ser287Arg/c.859A>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1093-11257A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.1093-11257A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11373808">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:4052,337,0:127	1|1:0,142:142:99:4993,427,0:127	1|1:0,86:86:99:3035,259,0:127
11	11373925	.	A	C	59189.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=771;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4243927;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4243927" target="_blank">rs4243927</a>;ExAC.Info.AC=124748;ExAC.Info.AN=126704;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1668;ExAC.Info.AC_Hom=61534;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1093-11374T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.742A>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttt/Gtt;snpeff.Amino_Acid_Change=p.Phe248Val/c.742T>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1093-11374T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.1093-11374T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11373925">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,253:253:99:8782,760,0:127	1|1:0,304:304:99:10553,913,0:127	1|1:0,214:214:99:7292,643,0:127
11	11373960	.	C	T	12549.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=780;MQ=69.85;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2071461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2071461" target="_blank">rs2071461</a>;ExAC.Info.AC=89350;ExAC.Info.AN=126704;ExAC.Info.AF=0.705;ExAC.Info.AC_Het=25505;ExAC.Info.AC_Hom=31914;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1093-11409G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.707C>T;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg236His/c.707G>A;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1093-11409G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.1093-11409G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11373960">View</a>	GT:AD:DP:GQ:PL:TP	0|0:266,0:266:99:0,799,8670:127	0|1:153,140:293:99:3815,0,4264:127	0|1:120,101:221:99:2479,0,3313:127
11	11374269	.	A	G	5314.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=680;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2071460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2071460" target="_blank">rs2071460</a>;ExAC.Info.AC=60130;ExAC.Info.AN=126704;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=30561;ExAC.Info.AC_Hom=14779;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.297A>G;snpeff.Gene_Name=RP11-567I13.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1093-11718T>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.398A>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093A>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile133Thr/c.398T>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1093-11718T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.1093-11718T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11374269">View</a>	GT:AD:DP:GQ:PL:TP	0|0:240,0:240:99:0,721,7824:127	0|0:245,1:246:99:0,700,8461:127	0|1:106,88:194:99:2676,0,3070:127
11	11374283	.	T	G	53743.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=658;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2896585;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2896585" target="_blank">rs2896585</a>;ExAC.Info.AC=124759;ExAC.Info.AN=126702;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1655;ExAC.Info.AC_Hom=61544;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.311T>G;snpeff.Gene_Name=RP11-567I13.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526867;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1093-11732A>C;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.384T>G;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Catalytic_subdomain_B];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1093T>G;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttA/ttC;snpeff.Amino_Acid_Change=p.Leu128Phe/c.384A>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=CSNK2A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-567I131" target="_blank">RP11-567I131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528848;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1093-11732A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.1093-11732A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11374283">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,231:231:99:8208,694,0:127	1|1:0,243:243:99:8766,730,0:127	1|1:0,184:184:99:7411,562,0:127
11	11504200	.	C	T	4423.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=233;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72865430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72865430" target="_blank">rs72865430</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.236-33717G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.236-33717G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.236-33717G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11504200">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,27:66:99:705,0,1179:127	0|0:99,0:99:99:0,298,3614:127	1|0:29,39:68:99:1137,0,871:127
11	11504283	.	G	T	25283.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4910359;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4910359" target="_blank">rs4910359</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.236-33800C>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.236-33800C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.236-33800C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11504283">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,124:125:99:3859,336,0:127	1|1:0,186:186:99:6150,559,0:127	1|0:86,72:158:99:1776,0,2334:127
11	11504349	.	G	A	7599.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7118797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7118797" target="_blank">rs7118797</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.236-33866C>T;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.236G>A;snpeff.Amino_Acid_length=607;snpeff.Gene_Name=GALNT18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT18" target="_blank">GALNT18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227756;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227756;SAVANT_GENE=GALNTL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNTL4" target="_blank">GALNTL4</a>;SAVANT_INFO=-/351.1kb/11/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.236-33866C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GALNTL4+c.236-33866C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11504349">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,26:65:99:814,0,1184:127	0/1:59,54:113:99:1587,0,1691:127	0/1:52,42:94:99:1229,0,1582:127
11	11895336	.	A	G	890.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72856356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72856356" target="_blank">rs72856356</a>;ExAC.Info.AC=8;ExAC.Info.AN=19012;ExAC.Info.AF=4.208e-04;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.40-11A>G;snpeff.Amino_Acid_length=1375;snpeff.Gene_Name=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399455;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339865;SAVANT_GENE=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;SAVANT_INFO=+/117.9kb/27/7.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.40-10678A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP47+c.40-10678A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11895336">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1027:89	0|1:23,15:38:99:464,0,635:89	0|0:30,0:30:90:0,90,938:89
11	11913585	.	G	T	26002.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=594;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11022079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11022079" target="_blank">rs11022079</a>;ExAC.Info.AC=93849;ExAC.Info.AN=125158;ExAC.Info.AF=0.750;ExAC.Info.AC_Het=22713;ExAC.Info.AC_Hom=35533;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGg/gTg;snpeff.Amino_Acid_Change=p.Gly163Val/c.488G>T;snpeff.Amino_Acid_length=1375;snpeff.Gene_Name=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399455;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339865;SAVANT_GENE=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;SAVANT_INFO=+/117.9kb/27/7.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.224G>T_p.Gly75Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP47+c.224G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11913585">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,173:173:99:5765,520,0:127	1|0:112,99:211:99:2604,0,3241:127	1|0:127,83:210:99:2170,0,3537:127
11	11969971	.	G	A	2220.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=122;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72857639;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72857639" target="_blank">rs72857639</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3328-54G>A;snpeff.Amino_Acid_length=1375;snpeff.Gene_Name=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399455;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339865;SAVANT_GENE=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;SAVANT_INFO=+/117.9kb/27/7.8kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.3064-54G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP47+c.3064-54G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11969971">View</a>	GT:AD:DP:GQ:PL:TP	0|1:27,20:47:99:539,0,873:110	1|0:18,20:38:99:609,0,523:110	0|0:37,0:37:99:0,111,1368:110
11	11972054	.	A	G	1664.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11022090;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11022090" target="_blank">rs11022090</a>;ExAC.Info.AC=34844;ExAC.Info.AN=124880;ExAC.Info.AF=0.279;ExAC.Info.AC_Het=24112;ExAC.Info.AC_Hom=5283;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3643+25A>G;snpeff.Amino_Acid_length=1375;snpeff.Gene_Name=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399455;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339865;SAVANT_GENE=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;SAVANT_INFO=+/117.9kb/27/7.8kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3379+25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP47+c.3379+25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11972054">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,0:20:60:0,60,714:60	0|1:21,15:36:99:445,0,715:60	0|1:17,13:30:99:407,0,503:60
11	11976628	.	G	A	13075.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs7933089;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7933089" target="_blank">rs7933089</a>;ExAC.Info.AC=85429;ExAC.Info.AN=125128;ExAC.Info.AF=0.683;ExAC.Info.AC_Het=25286;ExAC.Info.AC_Hom=30037;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caG/caA;snpeff.Amino_Acid_Change=p.Gln1290Gln/c.3870G>A;snpeff.Amino_Acid_length=1375;snpeff.Gene_Name=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399455;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339865;SAVANT_GENE=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;SAVANT_INFO=+/117.9kb/27/7.8kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.3606G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP47+c.3606G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11976628">View</a>	GT:AD:DP:GQ:PL:TP	0|1:43,34:77:99:971,0,1277:127	1|1:0,108:108:99:3786,325,0:127	0|1:40,44:84:99:1324,0,1163:127
11	11977573	.	T	C	4656.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2307073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2307073" target="_blank">rs2307073</a>;ExAC.Info.AC=18414;ExAC.Info.AN=125044;ExAC.Info.AF=0.147;ExAC.Info.AC_Het=14784;ExAC.Info.AC_Hom=1592;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu1327Leu/c.3979T>C;snpeff.Amino_Acid_length=1375;snpeff.Gene_Name=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399455;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339865;SAVANT_GENE=USP47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP47" target="_blank">USP47</a>;SAVANT_INFO=+/117.9kb/27/7.8kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.3715T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USP47+c.3715T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11977573">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,29:60:99:841,0,889:127	1|0:43,33:76:99:1028,0,1251:127	0|0:71,0:71:99:0,214,2571:127
11	11986061	.	T	C	12574.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3206824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3206824" target="_blank">rs3206824</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Leukemia|_association_with;hgmd_2014.2.OMIM_ID=605416;hgmd_2014.2.PubMed=16574953;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16574953" target="_blank">16574953</a>;ExAC.Info.AC=97253;ExAC.Info.AN=125814;ExAC.Info.AF=0.773;ExAC.Info.AC_Het=20721;ExAC.Info.AC_Hom=38181;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg349Gly/c.1045A>G;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=DKK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DKK3" target="_blank">DKK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525493;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396505;SAVANT_GENE=DKK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DKK3" target="_blank">DKK3</a>;SAVANT_INFO=-/46.0kb/8/2.6kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1003A>G_p.Arg335Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DKK3+c.1003A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:11986061">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,32:72:99:945,0,990:127	1|1:0,100:100:99:3468,300,0:127	0|1:36,31:67:99:948,0,953:127
11	12023773	.	C	A	4759.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs67506856;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67506856" target="_blank">rs67506856</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.351+74G>T;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=DKK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DKK3" target="_blank">DKK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525493;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396505;SAVANT_GENE=DKK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DKK3" target="_blank">DKK3</a>;SAVANT_INFO=-/46.0kb/8/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.351+74G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DKK3+c.351+74G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12023773">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,56:105:99:1158,0,1584:127	1|0:74,56:130:99:1060,0,2235:127	0|0:151,0:151:99:0,454,5612:127
11	12183846	.	C	T	16434.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=363;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs28625145;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28625145" target="_blank">rs28625145</a>;ExAC.Info.AC=24848;ExAC.Info.AN=126704;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=19690;ExAC.Info.AC_Hom=2564;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.144C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn48Asn/c.144C>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256194;SAVANT_GENE=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;SAVANT_INFO=+/153.2kb/28/3.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.144C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICAL2+c.144C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12183846">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,54:122:99:1417,0,2050:127	1|1:1,126:127:99:4456,341,0:127	0|1:65,49:114:99:1422,0,2087:127
11	12225946	.	T	G	18214.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3763823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3763823" target="_blank">rs3763823</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=78085;ExAC.Info.AN=126704;ExAC.Info.AF=0.616;ExAC.Info.AC_Het=29090;ExAC.Info.AC_Hom=24493;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.414T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgT/cgG;snpeff.Amino_Acid_Change=p.Arg138Arg/c.414T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256194;SAVANT_GENE=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;SAVANT_INFO=+/153.2kb/28/3.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.414T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICAL2+c.414T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12225946">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2504,228,0:127	1|0:51,51:102:99:1407,0,1324:127	1|1:0,97:97:99:3079,291,0:127
11	12229489	.	G	A	3458.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72866069;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72866069" target="_blank">rs72866069</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.473-81G>A;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473G>A;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473G>A;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473G>A;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473G>A;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473G>A;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473G>A;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473G>A;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473G>A;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473G>A;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473G>A;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256194;SAVANT_GENE=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;SAVANT_INFO=+/153.2kb/28/3.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.473-81G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICAL2+c.473-81G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12229489">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,16:26:99:511,0,275:127	0|0:54,0:54:99:0,162,1762:127	1|0:25,23:48:99:702,0,777:127
11	12229655	.	T	G	8179.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2279390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2279390" target="_blank">rs2279390</a>;ExAC.Info.AC=38726;ExAC.Info.AN=126704;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=25503;ExAC.Info.AC_Hom=6609;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Monooxygenase_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.558T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtG;snpeff.Amino_Acid_Change=p.Val186Val/c.558T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256194;SAVANT_GENE=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;SAVANT_INFO=+/153.2kb/28/3.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.558T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICAL2+c.558T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12229655">View</a>	GT:AD:DP:GQ:PL:TP	0/1:48,36:84:99:969,0,1271:127	0/1:73,42:115:99:1092,0,2032:127	0/1:49,39:88:99:1189,0,1389:127
11	12248515	.	T	G	15596.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2706643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2706643" target="_blank">rs2706643</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1889-57T>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256194;SAVANT_GENE=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;SAVANT_INFO=+/153.2kb/28/3.9kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1889-57T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICAL2+c.1889-57T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12248515">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3481,280,0:127	1|0:37,44:81:99:1243,0,1057:127	1|1:0,49:49:99:1911,147,0:127
11	12261007	.	T	C	2963.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61733868;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61733868" target="_blank">rs61733868</a>;ExAC.Info.AC=3571;ExAC.Info.AN=126704;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=3417;ExAC.Info.AC_Hom=77;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu697Leu/c.2089T>C;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256194;SAVANT_GENE=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;SAVANT_INFO=+/153.2kb/28/3.9kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2089T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICAL2+c.2089T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12261007">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,24:41:99:691,0,496:75	1|0:14,22:36:99:667,0,424:75	0|0:25,0:25:75:0,75,869:75
11	12263714	.	G	T	328.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=43;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs77070968;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77070968" target="_blank">rs77070968</a>;ExAC.Info.AC=7997;ExAC.Info.AN=125398;ExAC.Info.AF=0.064;ExAC.Info.AC_Het=2880;ExAC.Info.AC_Hom=282;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2338-47G>T;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256194;SAVANT_GENE=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;SAVANT_INFO=+/153.2kb/28/3.9kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2338-47G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICAL2+c.2338-47G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12263714">View</a>	GT:AD:DP:GQ:PL:TP	0|0:9,0:9:27:0,27,373:26	0|1:11,6:17:99:183,0,410:26	0|0:17,0:17:51:0,51,717:26
11	12265542	.	A	G	6574.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2270511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270511" target="_blank">rs2270511</a>;ExAC.Info.AC=23649;ExAC.Info.AN=126704;ExAC.Info.AF=0.187;ExAC.Info.AC_Het=18768;ExAC.Info.AC_Hom=2440;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu889Leu/c.2667A>G;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256194;SAVANT_GENE=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;SAVANT_INFO=+/153.2kb/28/3.9kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.2667A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICAL2+c.2667A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12265542">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,38:77:99:1213,0,1001:127	1|0:32,45:77:99:1462,0,848:127	0|0:69,0:69:99:0,207,2390:127
11	12265688	.	T	C	8176.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2270512;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270512" target="_blank">rs2270512</a>;ExAC.Info.AC=23316;ExAC.Info.AN=126704;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=18560;ExAC.Info.AC_Hom=2376;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2784+29T>C;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256194;SAVANT_GENE=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;SAVANT_INFO=+/153.2kb/28/3.9kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2784+29T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICAL2+c.2784+29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12265688">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,36:84:99:1019,0,1267:127	1|0:60,66:126:99:1941,0,1539:127	0|0:86,0:86:99:0,258,2979:127
11	12270793	.	GGT	G	4623.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs146412715;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146412715" target="_blank">rs146412715</a>;ExAC.Info.AC=1304;ExAC.Info.AN=126696;ExAC.Info.AF=0.010;ExAC.Info.AC_Het=1268;ExAC.Info.AC_Hom=15;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2847+1_2847+2delGT;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.2848_2849delGT;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;LOF=(MICAL2|ENSG00000133816|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000256194;SAVANT_GENE=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;SAVANT_INFO=+/153.2kb/28/3.9kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2847+2_2847+3delTG;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=ESS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICAL2+c.2847+2_2847+3delTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12270793">View</a>	GT:AD:DP:GQ:PL:TP	0|0:139,0:139:99:0,418,6201:127	0|1:84,62:146:99:2335,0,3339:127	0|0:159,2:161:99:0,394,6983:127
11	12279937	.	T	C	8839.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2270513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270513" target="_blank">rs2270513</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3143-78T>C;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3143T>C;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3143T>C;snpeff.Amino_Acid_length=1124;snpeff.Gene_Name=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256194;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256194;SAVANT_GENE=MICAL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICAL2" target="_blank">MICAL2</a>;SAVANT_INFO=+/153.2kb/28/3.9kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.3143-78T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICAL2+c.3143-78T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12279937">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,38:66:99:1123,0,772:127	0/1:52,50:102:99:1549,0,1481:127	0/1:32,38:70:99:1217,0,834:127
11	12315186	.	G	A	11172.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10741578;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10741578" target="_blank">rs10741578</a>;ExAC.Info.AC=55142;ExAC.Info.AN=125266;ExAC.Info.AF=0.440;ExAC.Info.AC_Het=28712;ExAC.Info.AC_Hom=13197;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_MAPK1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.208G>A;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val70Ile/c.208G>A;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256186;SAVANT_GENE=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;SAVANT_INFO=+/72.2kb/9/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.208G>A_p.Val70Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICALCL+c.208G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12315186">View</a>	GT:AD:DP:GQ:PL:TP	0|1:61,71:132:99:1972,0,1671:127	1|0:88,88:176:99:2440,0,2510:127	0|0:148,0:148:99:0,445,5005:127
11	12315407	.	G	C	30885.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=361;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10741579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10741579" target="_blank">rs10741579</a>;ExAC.Info.AC=115937;ExAC.Info.AN=125238;ExAC.Info.AF=0.926;ExAC.Info.AC_Het=8273;ExAC.Info.AC_Hom=52779;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggC;snpeff.Amino_Acid_Change=p.Gly143Gly/c.429G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256186;SAVANT_GENE=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;SAVANT_INFO=+/72.2kb/9/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.429G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICALCL+c.429G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12315407">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:4034,346,0:127	1|1:0,145:145:99:5391,436,0:127	1|1:0,101:101:99:3537,302,0:127
11	12315716	.	C	T	19993.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1493951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1493951" target="_blank">rs1493951</a>;ExAC.Info.AC=116016;ExAC.Info.AN=125146;ExAC.Info.AF=0.927;ExAC.Info.AC_Het=8294;ExAC.Info.AC_Hom=53246;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala246Ala/c.738C>T;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256186;SAVANT_GENE=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;SAVANT_INFO=+/72.2kb/9/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.738C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICALCL+c.738C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12315716">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2613,231,0:127	1|1:0,87:87:99:3135,262,0:127	1|1:0,68:68:99:2317,204,0:127
11	12315848	.	C	T	4614.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1493952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1493952" target="_blank">rs1493952</a>;ExAC.Info.AC=47444;ExAC.Info.AN=125280;ExAC.Info.AF=0.379;ExAC.Info.AC_Het=27994;ExAC.Info.AC_Hom=9636;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly290Gly/c.870C>T;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256186;SAVANT_GENE=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;SAVANT_INFO=+/72.2kb/9/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.870C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICALCL+c.870C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12315848">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,18:50:99:429,0,930:127	1|0:47,42:89:99:1235,0,1494:127	0|0:70,0:70:99:0,210,2523:127
11	12315891	.	G	A	22309.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1493953;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1493953" target="_blank">rs1493953</a>;ExAC.Info.AC=116138;ExAC.Info.AN=125234;ExAC.Info.AF=0.927;ExAC.Info.AC_Het=8364;ExAC.Info.AC_Hom=53764;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala305Thr/c.913G>A;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256186;SAVANT_GENE=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;SAVANT_INFO=+/72.2kb/9/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.913G>A_p.Ala305Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICALCL+c.913G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12315891">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2673,211,0:127	1|1:0,91:91:99:3453,274,0:127	1|1:0,78:78:99:2854,235,0:127
11	12315915	.	A	G	6728.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1493954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1493954" target="_blank">rs1493954</a>;ExAC.Info.AC=51893;ExAC.Info.AN=125362;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=28439;ExAC.Info.AC_Hom=11679;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser313Gly/c.937A>G;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256186;SAVANT_GENE=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;SAVANT_INFO=+/72.2kb/9/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.937A>G_p.Ser313Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICALCL+c.937A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12315915">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,32:83:99:894,0,1565:127	1|0:52,53:105:99:1618,0,1506:127	0|0:90,0:90:99:0,270,3194:127
11	12379792	.	G	C	11773.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10741583;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10741583" target="_blank">rs10741583</a>;ExAC.Info.AC=111172;ExAC.Info.AN=124466;ExAC.Info.AF=0.893;ExAC.Info.AC_Het=10981;ExAC.Info.AC_Hom=47817;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1904-50G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1904G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1904G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1904G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1904G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1904G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1904G>C;snpeff.Amino_Acid_length=695;snpeff.Gene_Name=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256186;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256186;SAVANT_GENE=MICALCL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MICALCL" target="_blank">MICALCL</a>;SAVANT_INFO=+/72.2kb/9/3.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1904-50G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MICALCL+c.1904-50G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12379792">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2122,174,0:95	1|1:0,50:50:99:1871,150,0:95	1|1:0,32:32:96:1141,96,0:95
11	12474560	.	G	A	3622.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=188;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72862241;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72862241" target="_blank">rs72862241</a>;ExAC.Info.AC=681;ExAC.Info.AN=19256;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=561;ExAC.Info.AC_Hom=17;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.257-20732G>A;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=PARVA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARVA" target="_blank">PARVA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334956;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334956;SAVANT_GENE=PARVA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARVA" target="_blank">PARVA</a>;SAVANT_INFO=+/153.6kb/13/4.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.257-20732G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARVA+c.257-20732G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12474560">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1712:127	0|1:31,36:67:99:1089,0,828:127	0|1:44,27:71:99:742,0,1225:127
11	12534707	.	G	A	18719.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2243707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243707" target="_blank">rs2243707</a>;ExAC.Info.AC=87196;ExAC.Info.AN=123932;ExAC.Info.AF=0.704;ExAC.Info.AC_Het=22771;ExAC.Info.AC_Hom=28220;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.857-139G>A;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=PARVA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARVA" target="_blank">PARVA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334956;SAVANT_GENE=PARVA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARVA" target="_blank">PARVA</a>;SAVANT_INFO=+/153.6kb/13/4.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.857-139G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARVA+c.857-139G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12534707">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,71:133:99:2024,0,1596:127	1|1:0,138:138:99:4807,415,0:127	0|1:57,52:109:99:1493,0,1593:127
11	12534808	.	A	G	42320.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2403631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2403631" target="_blank">rs2403631</a>;ExAC.Info.AC=124442;ExAC.Info.AN=124944;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=469;ExAC.Info.AC_Hom=61869;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.857-38A>G;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=PARVA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARVA" target="_blank">PARVA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334956;SAVANT_GENE=PARVA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARVA" target="_blank">PARVA</a>;SAVANT_INFO=+/153.6kb/13/4.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.857-38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARVA+c.857-38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12534808">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,175:175:99:6019,526,0:127	1|1:0,194:194:99:6622,583,0:127	1|1:0,157:157:99:5445,472,0:127
11	12535485	.	CACAGGCTCCTGCACTA	C	8779.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs56043920;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56043920" target="_blank">rs56043920</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.919-58_919-43delACAGGCTCCTGCACTA;snpeff.Amino_Acid_length=412;snpeff.Gene_Name=PARVA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARVA" target="_blank">PARVA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334956;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000334956;SAVANT_GENE=PARVA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PARVA" target="_blank">PARVA</a>;SAVANT_INFO=+/153.6kb/13/4.5kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.919-58_919-43del16;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PARVA+c.919-58_919-43del16+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12535485">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,25:54:99:964,0,1412:127	1|1:0,53:53:99:2387,161,0:127	0|1:38,17:55:99:601,0,1966:127
11	12785718	.	T	C	3874.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Sveinsson_choreoretinal_atrophy|_108985_(3);dbSNP139.ID=rs72858140;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72858140" target="_blank">rs72858140</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-54-8T>C;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=TEAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1" target="_blank">TEAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527636;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1T>C;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=TEAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1" target="_blank">TEAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527636;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000361985;SAVANT_GENE=TEAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1" target="_blank">TEAD1</a>;SAVANT_INFO=+/198.9kb/12/8.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-62T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TEAD1+c.-62T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12785718">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,406,4641:127	0|1:86,70:156:99:1956,0,2557:127	0|0:128,0:128:99:0,384,4465:127
11	12903443	.	C	T	9732.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=302;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Sveinsson_choreoretinal_atrophy|_108985_(3);dbSNP139.ID=rs2304733;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2304733" target="_blank">rs2304733</a>;ExAC.Info.AC=54183;ExAC.Info.AN=126704;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=28558;ExAC.Info.AC_Hom=12804;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp171Asp/c.513C>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=TEAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1" target="_blank">TEAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527636;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.513C>T;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=TEAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1" target="_blank">TEAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527636;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000361985;SAVANT_GENE=TEAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1" target="_blank">TEAD1</a>;SAVANT_INFO=+/198.9kb/12/8.2kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.513C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TEAD1+c.513C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12903443">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,46:81:99:1270,0,1010:127	0/1:60,60:120:99:1732,0,1802:127	0/1:56,45:101:99:1105,0,1709:127
11	12903565	.	G	A	3794.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Sveinsson_choreoretinal_atrophy|_108985_(3);dbSNP139.ID=rs2304734;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2304734" target="_blank">rs2304734</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.574+61G>A;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=TEAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1" target="_blank">TEAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527636;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000361985;SAVANT_GENE=TEAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1" target="_blank">TEAD1</a>;SAVANT_INFO=+/198.9kb/12/8.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.574+61G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TEAD1+c.574+61G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12903565">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,1987:127	0|1:38,62:100:99:1916,0,1152:127	0|0:60,0:60:99:0,181,2353:127
11	12951926	.	A	G	29933.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Sveinsson_choreoretinal_atrophy|_108985_(3);dbSNP139.ID=rs2727360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2727360" target="_blank">rs2727360</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1167+53A>G;snpeff.Amino_Acid_length=426;snpeff.Gene_Name=TEAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1" target="_blank">TEAD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527636;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000361985;SAVANT_GENE=TEAD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1" target="_blank">TEAD1</a>;SAVANT_INFO=+/198.9kb/12/8.2kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1167+53A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TEAD1+c.1167+53A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:12951926">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:4140,340,0:127	1|1:0,142:142:99:5213,427,0:127	1|1:0,118:118:99:4353,355,0:127
11	13031288	.	C	T	8025.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61879069;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61879069" target="_blank">rs61879069</a>;ExAC.Info.AC=2244;ExAC.Info.AN=118406;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=1381;ExAC.Info.AC_Hom=27;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.489C>T;snpeff.Gene_Name=RASSF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF10" target="_blank">RASSF10</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000340901;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF10" target="_blank">RASSF10</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASSF10+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13031288">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,40:82:99:1231,0,1281:127	1|0:50,51:101:99:1595,0,1516:127	0|0:78,0:78:99:0,234,2793:127
11	13031846	.	G	A	11668.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12793946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12793946" target="_blank">rs12793946</a>;ExAC.Info.AC=5904;ExAC.Info.AN=104650;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=2179;ExAC.Info.AC_Hom=149;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1047G>A;snpeff.Gene_Name=RASSF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF10" target="_blank">RASSF10</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000340901;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0139.1:CTCF];snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF10" target="_blank">RASSF10</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASSF10+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13031846">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,39:90:99:1001,0,1667:127	1|1:0,106:106:99:3591,319,0:127	0|0:83,0:83:99:0,249,3027:127
11	13032055	.	C	A	5191.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs200457508;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200457508" target="_blank">rs200457508</a>;ExAC.Info.AC=173;ExAC.Info.AN=85066;ExAC.Info.AF=2.034e-03;ExAC.Info.AC_Het=55;ExAC.Info.AC_Hom=0;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1256C>A;snpeff.Gene_Name=RASSF10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF10" target="_blank">RASSF10</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000340901;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RASSF10" target="_blank">RASSF10</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RASSF10+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13032055">View</a>	GT:AD:DP:GQ:PL:TP	1|0:23,21:44:99:570,0,742:127	0|0:78,1:79:99:0,198,2800:127	1|0:27,33:60:99:1021,0,798:127
11	13377922	.	TG	T	3825.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs59018433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59018433" target="_blank">rs59018433</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.141-363delG;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403290;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000389707;SAVANT_GENE=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;SAVANT_INFO=+/109.5kb/20/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.141-356delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNTL+c.141-356delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13377922">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,21:46:99:506,0,626:127	0|0:72,1:73:99:0,187,2142:127	1|0:24,39:63:99:1006,0,543:127
11	13378457	.	C	T	9625.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs62620045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62620045" target="_blank">rs62620045</a>;ExAC.Info.AC=4513;ExAC.Info.AN=125250;ExAC.Info.AF=0.036;ExAC.Info.AC_Het=3109;ExAC.Info.AC_Hom=120;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.179+133C>T;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403290;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389707;SAVANT_GENE=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;SAVANT_INFO=+/109.5kb/20/2.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.179+133C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNTL+c.179+133C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13378457">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,49:109:99:1381,0,1918:127	0|0:138,0:138:99:0,415,5221:127	1|0:62,77:139:99:2278,0,1691:127
11	13398129	.	T	A	23055.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=275;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10741617;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10741617" target="_blank">rs10741617</a>;ExAC.Info.AC=126255;ExAC.Info.AN=126628;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=360;ExAC.Info.AC_Hom=62517;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1326-58T>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403290;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1326T>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403290;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PAC];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1326T>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403290;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389707;SAVANT_GENE=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;SAVANT_INFO=+/109.5kb/20/2.8kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1323-58T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNTL+c.1323-58T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13398129">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,80:80:99:2534,240,0:127	1|1:0,105:105:99:3537,315,0:127	1|1:0,90:90:99:3203,271,0:127
11	13400051	.	T	A	3596.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=369;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs60280155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60280155" target="_blank">rs60280155</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1523+59T>A;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403290;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389707;SAVANT_GENE=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;SAVANT_INFO=+/109.5kb/20/2.8kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1520+59T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNTL+c.1520+59T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13400051">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,301,3362:127	0|0:141,0:141:99:0,424,4643:127	0|1:58,70:128:99:1817,0,1562:127
11	13407184	.	C	T	758.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2290034;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2290034" target="_blank">rs2290034</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1618-52C>T;snpeff.Amino_Acid_length=626;snpeff.Gene_Name=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403290;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389707;SAVANT_GENE=ARNTL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARNTL" target="_blank">ARNTL</a>;SAVANT_INFO=+/109.5kb/20/2.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.1615-52C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARNTL+c.1615-52C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13407184">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,999:59	0|0:20,0:20:60:0,60,738:59	0|1:18,14:32:99:398,0,607:59
11	13410371	.	A	G	2169.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs17452383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17452383" target="_blank">rs17452383</a>;ExAC.Info.AC=12886;ExAC.Info.AN=126666;ExAC.Info.AF=0.102;ExAC.Info.AC_Het=11311;ExAC.Info.AC_Hom=715;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=7;snpeff.Amino_Acid_Change=c.*7T>C;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=BTBD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD10" target="_blank">BTBD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530907;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278174;SAVANT_GENE=BTBD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD10" target="_blank">BTBD10</a>;SAVANT_INFO=-/75.3kb/9/2.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*7T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD10+c.*7T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13410371">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,216,2345:127	0|1:35,40:75:99:1102,0,909:127	0|0:74,1:75:99:0,215,2539:127
11	13410690	.	TGAAA	T	3715.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=375;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3833472;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3833472" target="_blank">rs3833472</a>;ExAC.Info.AC=12660;ExAC.Info.AN=126536;ExAC.Info.AF=0.100;ExAC.Info.AC_Het=11066;ExAC.Info.AC_Hom=668;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1142-6_1142-3delTTTC;snpeff.Amino_Acid_length=483;snpeff.Gene_Name=BTBD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD10" target="_blank">BTBD10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530907;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000278174;SAVANT_GENE=BTBD10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BTBD10" target="_blank">BTBD10</a>;SAVANT_INFO=-/75.3kb/9/2.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1118-6_1118-3delTTTC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=BTBD10+c.1118-6_1118-3delTTTC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13410690">View</a>	GT:AD:DP:GQ:PL:TP	0|0:119,0:119:99:0,358,5295:127	0|1:85,52:137:99:1881,0,3392:127	0|0:119,0:119:99:0,358,5354:127
11	13514417	.	C	T	16097.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=533;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hypoparathyroidism|_autosomal_dominant|_146200_(3)|_Hypoparathyroidism|_autosomal_recessive|_146200_(3);dbSNP139.ID=rs694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=694" target="_blank">rs694</a>;ExAC.Info.AC=69536;ExAC.Info.AN=126626;ExAC.Info.AF=0.549;ExAC.Info.AC_Het=27846;ExAC.Info.AC_Hom=20047;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-5-10G>A;snpeff.Amino_Acid_length=115;snpeff.Gene_Name=PTH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTH" target="_blank">PTH</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529816;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000282091;SAVANT_GENE=PTH;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTH" target="_blank">PTH</a>;SAVANT_INFO=-/4.0kb/3/0.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-15G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTH+c.-15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13514417">View</a>	GT:AD:DP:GQ:PL:TP	0|1:89,70:159:99:1806,0,2776:127	1|1:1,190:191:99:6417,531,0:127	0|0:182,1:183:99:0,539,6514:127
11	13716530	.	A	G	5076.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs7130943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7130943" target="_blank">rs7130943</a>;ExAC.Info.AC=66615;ExAC.Info.AN=126624;ExAC.Info.AF=0.526;ExAC.Info.AC_Het=29616;ExAC.Info.AC_Hom=17817;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.189+29A>G;snpeff.Amino_Acid_length=515;snpeff.Gene_Name=FAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAR1" target="_blank">FAR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000354817;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000354817;SAVANT_GENE=FAR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAR1" target="_blank">FAR1</a>;SAVANT_INFO=+/63.7kb/12/5.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.189+29A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAR1+c.189+29A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13716530">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:1048,87,0:87	1|0:20,10:30:99:285,0,602:87	1|0:19,25:44:99:795,0,582:87
11	13984720	.	A	C	9429.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=135;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10741631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10741631" target="_blank">rs10741631</a>;ExAC.Info.AC=38465;ExAC.Info.AN=54896;ExAC.Info.AF=0.701;ExAC.Info.AC_Het=655;ExAC.Info.AC_Hom=1413;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.776+31A>C;snpeff.Gene_Name=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000310358;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310358;SAVANT_GENE=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;SAVANT_INFO=+/305.7kb/17/5.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.238+31A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPON1+c.238+31A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:13984720">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1493,129,0:116	1|0:31,22:53:99:617,0,928:116	1|1:0,39:39:99:1362,117,0:116
11	14101493	.	G	GC	30067.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5789820;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5789820" target="_blank">rs5789820</a>;ExAC.Info.AC=124842;ExAC.Info.AN=124842;ExAC.Info.AF=1.00;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=62350;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1139-1_1139insC;snpeff.Gene_Name=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000310358;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.1139_1140insC;snpeff.Gene_Name=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000310358;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=n.1139_1140insC;snpeff.Gene_Name=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000310358;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000310358;SAVANT_GENE=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;SAVANT_INFO=+/305.7kb/17/5.4kb;SAVANT_LOC=fsIn5/6-Ex6;SAVANT_HGVS=c.601-1dupC;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=ESS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPON1+c.601-1dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14101493">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,102:102:99:3855,310,0:127	1|1:0,128:128:99:4724,387,0:127	1|1:0,114:114:99:4238,343,0:127
11	14246296	.	G	A	13627.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1025412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1025412" target="_blank">rs1025412</a>;ExAC.Info.AC=61220;ExAC.Info.AN=119438;ExAC.Info.AF=0.513;ExAC.Info.AC_Het=27090;ExAC.Info.AC_Hom=15255;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1361-18582G>A;snpeff.Gene_Name=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000310358;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310358;SAVANT_GENE=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;SAVANT_INFO=+/305.7kb/17/5.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.823-18582G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPON1+c.823-18582G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14246296">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1788,171,0:127	1|0:29,37:66:99:1070,0,814:127	1|1:0,68:68:99:2396,204,0:127
11	14246336	.	G	A	778.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2163463;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2163463" target="_blank">rs2163463</a>;ExAC.Info.AC=42744;ExAC.Info.AN=118922;ExAC.Info.AF=0.359;ExAC.Info.AC_Het=24021;ExAC.Info.AC_Hom=7682;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1361-18542G>A;snpeff.Gene_Name=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000310358;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310358;SAVANT_GENE=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;SAVANT_INFO=+/305.7kb/17/5.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.823-18542G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPON1+c.823-18542G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14246336">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1289:108	0|1:31,15:46:99:408,0,1042:108	0|0:58,0:58:99:0,174,2133:108
11	14264916	.	A	G	2668.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2303973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2303973" target="_blank">rs2303973</a>;ExAC.Info.AC=50744;ExAC.Info.AN=122374;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=17111;ExAC.Info.AC_Hom=7018;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1399A>G;snpeff.Gene_Name=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000310358;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310358;SAVANT_GENE=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;SAVANT_INFO=+/305.7kb/17/5.4kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.861A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPON1+c.861A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14264916">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2035:127	0|1:32,46:78:99:1353,0,894:127	0|0:56,0:56:99:0,168,1928:127
11	14264979	.	C	A	15459.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2303974;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2303974" target="_blank">rs2303974</a>;ExAC.Info.AC=26230;ExAC.Info.AN=112280;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=6788;ExAC.Info.AC_Hom=1787;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1425+37C>A;snpeff.Gene_Name=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000310358;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000310358;SAVANT_GENE=SPON1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPON1" target="_blank">SPON1</a>;SAVANT_INFO=+/305.7kb/17/5.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.887+37C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPON1+c.887+37C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14264979">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2708,264,0:127	1|0:50,48:98:99:1236,0,1540:127	1|1:0,69:69:99:2377,207,0:127
11	14303282	.	T	A	6622.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=608;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Ovarian_carcinoma_(3);dbSNP139.ID=rs2303972;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2303972" target="_blank">rs2303972</a>;ExAC.Info.AC=52539;ExAC.Info.AN=126698;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=29142;ExAC.Info.AC_Hom=11689;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.427-16A>T;snpeff.Amino_Acid_length=210;snpeff.Gene_Name=RRAS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAS2" target="_blank">RRAS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000545643;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256196;SAVANT_GENE=RRAS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRAS2" target="_blank">RRAS2</a>;SAVANT_INFO=-/80.4kb/6/1.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.409-16A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RRAS2+c.409-16A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14303282">View</a>	GT:AD:DP:GQ:PL:TP	0|0:192,0:192:99:0,577,6334:127	0|1:110,113:223:99:3330,0,3178:127	0|0:193,0:193:99:0,580,7005:127
11	14501267	.	GA	G	407.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=142;MQ=70.05;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1213-8delT;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=COPB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPB1" target="_blank">COPB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439561;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1213delA;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=COPB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPB1" target="_blank">COPB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439561;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1213delA;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=COPB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPB1" target="_blank">COPB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439561;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1213delT;snpeff.Amino_Acid_length=953;snpeff.Gene_Name=COPB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPB1" target="_blank">COPB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000439561;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000249923;SAVANT_GENE=COPB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=COPB1" target="_blank">COPB1</a>;SAVANT_INFO=-/42.3kb/22/3.5kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1213-8delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=COPB1+c.1213-8delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14501267">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,7:45:22:22,0,718:22	0/1:39,10:49:91:91,0,757:22	0/1:39,9:48:71:71,0,765:22
11	14539315	.	TA	T	1546.88	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=40;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs59770964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59770964" target="_blank">rs59770964</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.151-25delT;snpeff.Gene_Name=PSMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMA1" target="_blank">PSMA1</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000555531;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.169-25delT;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=PSMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMA1" target="_blank">PSMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418988;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000418988;SAVANT_GENE=PSMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMA1" target="_blank">PSMA1</a>;SAVANT_INFO=-/138.6kb/11/1.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.169-25delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMA1+c.169-25delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14539315">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,12:14:11:224,11,0:10	1|0:4,8:12:50:114,0,50:10	1|1:1,13:14:18:234,18,0:10
11	14632570	.	A	C	8011.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1403247;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1403247" target="_blank">rs1403247</a>;ExAC.Info.AC=74368;ExAC.Info.AN=126648;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=30131;ExAC.Info.AC_Hom=22007;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=38;snpeff.Amino_Acid_Change=c.-38T>G;snpeff.Amino_Acid_length=269;snpeff.Gene_Name=PSMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMA1" target="_blank">PSMA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418988;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418988;SAVANT_GENE=PSMA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMA1" target="_blank">PSMA1</a>;SAVANT_INFO=-/138.6kb/11/1.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-38T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMA1+c.-38T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14632570">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,52:119:99:1444,0,1749:127	0|0:159,0:159:99:0,477,5003:127	1|0:40,55:95:99:1547,0,1106:127
11	14810762	.	A	G	19969.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs4757268;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4757268" target="_blank">rs4757268</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=79623;ExAC.Info.AN=126648;ExAC.Info.AF=0.629;ExAC.Info.AC_Het=29010;ExAC.Info.AC_Hom=25150;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg463Arg/c.1389A>G;snpeff.Amino_Acid_length=1112;snpeff.Gene_Name=PDE3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE3B" target="_blank">PDE3B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000282096;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000282096;SAVANT_GENE=PDE3B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE3B" target="_blank">PDE3B</a>;SAVANT_INFO=+/227.1kb/16/4.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1389A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDE3B+c.1389A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14810762">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:3963,333,0:127	1|0:76,78:154:99:2232,0,2051:127	1|0:75,58:133:99:1793,0,2151:127
11	14913575	.	G	A	18468.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=323;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Rickets_due_to_defect_in_vitamin_D_25-hydroxylation|_600081_(3);dbSNP139.ID=rs12794714;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12794714" target="_blank">rs12794714</a>;ExAC.Info.AC=51287;ExAC.Info.AN=126572;ExAC.Info.AF=0.405;ExAC.Info.AC_Het=29014;ExAC.Info.AC_Hom=10847;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser59Ser/c.177C>T;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=CYP2R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2R1" target="_blank">CYP2R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334636;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334636;SAVANT_GENE=CYP2R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP2R1" target="_blank">CYP2R1</a>;SAVANT_INFO=-/14.2kb/5/1.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.177C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CYP2R1+c.177C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14913575">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3485,295,0:127	1|0:62,61:123:99:1759,0,1734:127	1|0:57,45:102:99:1197,0,1684:127
11	14991539	.	T	C	12865.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=139;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs5239;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5239" target="_blank">rs5239</a>;ExAC.Info.AC=126122;ExAC.Info.AN=126704;ExAC.Info.AF=0.995;ExAC.Info.AC_Het=562;ExAC.Info.AC_Hom=62746;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-445-7898T>C;snpeff.Amino_Acid_length=138;snpeff.Gene_Name=CALCB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALCB" target="_blank">CALCB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000523376;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.169T>C;snpeff.Amino_Acid_length=141;snpeff.Gene_Name=CALCA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALCB" target="_blank">CALCB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359642;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.169T>C;snpeff.Amino_Acid_length=141;snpeff.Gene_Name=CALCA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALCB" target="_blank">CALCB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359642;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[maturation_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.169T>C;snpeff.Amino_Acid_length=141;snpeff.Gene_Name=CALCA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALCB" target="_blank">CALCB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359642;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn57Asp/c.169A>G;snpeff.Amino_Acid_length=141;snpeff.Gene_Name=CALCA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALCB" target="_blank">CALCB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359642;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331587;SAVANT_GENE=CALCA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CALCA" target="_blank">CALCA</a>;SAVANT_INFO=-/3.9kb/4/0.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.169A>G_p.Asn57Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CALCA+c.169A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:14991539">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1651,132,0:118	1|1:0,55:55:99:2006,165,0:118	1|1:0,40:40:99:1466,119,0:118
11	15170644	.	T	C	18551.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1714354;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1714354" target="_blank">rs1714354</a>;ExAC.Info.AC=90436;ExAC.Info.AN=125684;ExAC.Info.AF=0.720;ExAC.Info.AC_Het=20415;ExAC.Info.AC_Hom=32193;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.97-32T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=INSC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSC" target="_blank">INSC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379554;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379554;SAVANT_GENE=INSC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSC" target="_blank">INSC</a>;SAVANT_INFO=+/134.8kb/13/3.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.97-32T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INSC+c.97-32T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:15170644">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2486,231,0:127	1|1:0,83:83:99:2898,249,0:127	1|1:0,78:78:99:2520,234,0:127
11	15199957	.	T	C	13655.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1714376;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1714376" target="_blank">rs1714376</a>;ExAC.Info.AC=107985;ExAC.Info.AN=125258;ExAC.Info.AF=0.862;ExAC.Info.AC_Het=14431;ExAC.Info.AC_Hom=46705;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly228Gly/c.684T>C;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=INSC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSC" target="_blank">INSC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379554;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379554;SAVANT_GENE=INSC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSC" target="_blank">INSC</a>;SAVANT_INFO=+/134.8kb/13/3.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.684T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INSC+c.684T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:15199957">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1619,141,0:127	1|0:35,33:68:99:980,0,955:127	1|1:0,69:69:99:2326,207,0:127
11	15267597	.	C	A	12064.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=362;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1054952;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1054952" target="_blank">rs1054952</a>;ExAC.Info.AC=34613;ExAC.Info.AN=125398;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=24482;ExAC.Info.AC_Hom=5046;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=11;snpeff.Amino_Acid_Change=c.*11C>A;snpeff.Amino_Acid_length=579;snpeff.Gene_Name=INSC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSC" target="_blank">INSC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379554;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379554;SAVANT_GENE=INSC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=INSC" target="_blank">INSC</a>;SAVANT_INFO=+/134.8kb/13/3.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*11C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=INSC+c.*11C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:15267597">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,55:101:99:1350,0,1183:127	0/1:69,94:163:99:2593,0,1916:127	0/1:50,48:98:99:1316,0,1437:127
11	16117684	.	GA	G	205.36	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.979-21delT;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=SOX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX6" target="_blank">SOX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000352083;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000396356;SAVANT_GENE=SOX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX6" target="_blank">SOX6</a>;SAVANT_INFO=-/509.9kb/16/8.9kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.979-21delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SOX6+c.979-21delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:16117684">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,3:23:11:11,0,424:11	1|0:35,6:41:36:36,0,787:11	0|0:26,2:28:51:0,51,621:11
11	16133413	.	A	G	33475.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=603;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs4617548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4617548" target="_blank">rs4617548</a>;ExAC.Info.AC=66861;ExAC.Info.AN=126696;ExAC.Info.AF=0.528;ExAC.Info.AC_Het=30202;ExAC.Info.AC_Hom=18283;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr278Thr/c.834T>C;snpeff.Amino_Acid_length=828;snpeff.Gene_Name=SOX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX6" target="_blank">SOX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000352083;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396356;SAVANT_GENE=SOX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX6" target="_blank">SOX6</a>;SAVANT_INFO=-/509.9kb/16/8.9kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.834T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SOX6+c.834T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:16133413">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,161:161:99:5566,483,0:127	1|0:116,125:241:99:3685,0,3189:127	1|0:94,107:201:99:3122,0,2538:127
11	16766106	.	T	C	1254.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2270886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270886" target="_blank">rs2270886</a>;ExAC.Info.AC=24828;ExAC.Info.AN=126558;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=18124;ExAC.Info.AC_Hom=2776;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.64-42T>C;snpeff.Amino_Acid_length=183;snpeff.Gene_Name=C11orf58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf58" target="_blank">C11orf58</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000228136;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000228136;SAVANT_GENE=C11orf58;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf58" target="_blank">C11orf58</a>;SAVANT_INFO=+/17.8kb/5/2.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.64-42T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf58+c.64-42T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:16766106">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1759:127	0|0:59,0:59:99:0,177,2036:127	0|1:29,21:50:99:646,0,827:127
11	16837658	.	T	C	1468.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3925307;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3925307" target="_blank">rs3925307</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1953+67A>G;snpeff.Amino_Acid_length=1271;snpeff.Gene_Name=PLEKHA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA7" target="_blank">PLEKHA7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531066;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355661;SAVANT_GENE=PLEKHA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA7" target="_blank">PLEKHA7</a>;SAVANT_INFO=-/226.8kb/23/4.8kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1953+67A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA7+c.1953+67A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:16837658">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1762:127	0|1:24,24:48:99:753,0,713:127	0|0:62,0:62:99:0,186,2115:127
11	16837788	.	G	A	1622.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs217750;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=217750" target="_blank">rs217750</a>;ExAC.Info.AC=15166;ExAC.Info.AN=126704;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=12764;ExAC.Info.AC_Hom=1189;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgC/cgT;snpeff.Amino_Acid_Change=p.Arg630Arg/c.1890C>T;snpeff.Amino_Acid_length=1271;snpeff.Gene_Name=PLEKHA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA7" target="_blank">PLEKHA7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531066;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355661;SAVANT_GENE=PLEKHA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA7" target="_blank">PLEKHA7</a>;SAVANT_INFO=-/226.8kb/23/4.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1890C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA7+c.1890C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:16837788">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1633:116	0|1:26,31:57:99:830,0,682:116	0|0:39,0:39:99:0,117,1397:116
11	16872653	.	G	A	11173.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=407;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs35098462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35098462" target="_blank">rs35098462</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.696+85C>T;snpeff.Amino_Acid_length=1271;snpeff.Gene_Name=PLEKHA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA7" target="_blank">PLEKHA7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531066;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355661;SAVANT_GENE=PLEKHA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA7" target="_blank">PLEKHA7</a>;SAVANT_INFO=-/226.8kb/23/4.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.696+85C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA7+c.696+85C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:16872653">View</a>	GT:AD:DP:GQ:PL:TP	0/1:76,52:128:99:1238,0,2039:127	0/1:91,65:156:99:1623,0,2547:127	0/1:57,66:123:99:1743,0,1544:127
11	17035718	.	A	G	14003.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61881311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61881311" target="_blank">rs61881311</a>;ExAC.Info.AC=79979;ExAC.Info.AN=118744;ExAC.Info.AF=0.674;ExAC.Info.AC_Het=21900;ExAC.Info.AC_Hom=26007;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OR7E14P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR7E14P" target="_blank">OR7E14P</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His39His/c.117T>C;snpeff.Amino_Acid_length=1271;snpeff.Gene_Name=PLEKHA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR7E14P" target="_blank">OR7E14P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531066;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355661;SAVANT_GENE=PLEKHA7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLEKHA7" target="_blank">PLEKHA7</a>;SAVANT_INFO=-/226.8kb/23/4.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.117T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLEKHA7+c.117T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17035718">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2057,188,0:127	1|0:28,34:62:99:1121,0,785:127	1|0:34,38:72:99:1163,0,907:127
11	17096059	.	A	G	33071.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs11024148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11024148" target="_blank">rs11024148</a>;ExAC.Info.AC=73348;ExAC.Info.AN=126500;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=27246;ExAC.Info.AC_Hom=20071;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.423-46T>C;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=RPS13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS13" target="_blank">RPS13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525634;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525634;SAVANT_GENE=RPS13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS13" target="_blank">RPS13</a>;SAVANT_INFO=-/3.4kb/6/0.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.423-46T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS13+c.423-46T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17096059">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:5400,457,0:127	1|0:94,113:207:99:3450,0,2607:127	1|1:0,141:141:99:5049,423,0:127
11	17096150	.	T	A	35792.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=587;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7125607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7125607" target="_blank">rs7125607</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.423-137A>T;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=RPS13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS13" target="_blank">RPS13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525634;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525634;SAVANT_GENE=RPS13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS13" target="_blank">RPS13</a>;SAVANT_INFO=-/3.4kb/6/0.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.423-137A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS13+c.423-137A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17096150">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,200:200:99:6516,601,0:127	1|0:99,115:214:99:3327,0,2767:127	1|1:0,173:173:99:6007,520,0:127
11	17098101	.	CA	C	126.0	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=5;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs35594006;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35594006" target="_blank">rs35594006</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.151+613delT;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=RPS13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS13" target="_blank">RPS13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525634;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000525634;SAVANT_GENE=RPS13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS13" target="_blank">RPS13</a>;SAVANT_INFO=-/3.4kb/6/0.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.151+613delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS13+c.151+613delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17098101">View</a>	GT:AD:DP:GQ:PL:TP	1|0:0,1:1:2:24,3,0:2	0|0:1,0:1:3:0,3,23:2	1|0:1,2:3:14:40,0,14:2
11	17099133	.	G	C	31.42	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=4505;ExAC.Info.AN=126672;ExAC.Info.AF=0.036;ExAC.Info.AC_Het=3776;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.23+33C>G;snpeff.Amino_Acid_length=151;snpeff.Gene_Name=RPS13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS13" target="_blank">RPS13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525634;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525634;SAVANT_GENE=RPS13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPS13" target="_blank">RPS13</a>;SAVANT_INFO=-/3.4kb/6/0.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.23+33C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPS13+c.23+33C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17099133">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,7:31:22:22,0,743:5	1|0:20,5:25:23:23,0,612:5	0|0:25,2:27:4:0,4,908:5
11	17099600	.	A	T	2791.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72870889;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72870889" target="_blank">rs72870889</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PIK3C2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2A" target="_blank">PIK3C2A</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2A" target="_blank">PIK3C2A</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3C2A+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17099600">View</a>	GT:AD:DP:GQ:PL:TP	1|0:17,15:32:99:451,0,491:127	0|0:47,0:47:99:0,141,1647:127	1|0:15,18:33:99:572,0,447:127
11	17111272	.	A	G	15528.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs10832733;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10832733" target="_blank">rs10832733</a>;ExAC.Info.AC=74125;ExAC.Info.AN=126676;ExAC.Info.AF=0.585;ExAC.Info.AC_Het=29526;ExAC.Info.AC_Hom=22114;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=13;snpeff.Amino_Acid_Change=c.*13T>C;snpeff.Amino_Acid_length=1686;snpeff.Gene_Name=PIK3C2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2A" target="_blank">PIK3C2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265970;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265970;SAVANT_GENE=PIK3C2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2A" target="_blank">PIK3C2A</a>;SAVANT_INFO=-/83.2kb/32/8.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*13T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3C2A+c.*13T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17111272">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:2162,174,0:127	1|0:45,42:87:99:1427,0,1290:127	1|1:0,67:67:99:2496,201,0:127
11	17118687	.	T	C	10886.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=557;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11604561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11604561" target="_blank">rs11604561</a>;ExAC.Info.AC=12736;ExAC.Info.AN=126702;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=11273;ExAC.Info.AC_Hom=728;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr1415Ala/c.4243A>G;snpeff.Amino_Acid_length=1686;snpeff.Gene_Name=PIK3C2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2A" target="_blank">PIK3C2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265970;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265970;SAVANT_GENE=PIK3C2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2A" target="_blank">PIK3C2A</a>;SAVANT_INFO=-/83.2kb/32/8.2kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.4243A>G_p.Thr1415Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3C2A+c.4243A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17118687">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,101:181:99:2845,0,1969:127	0|0:204,0:204:99:0,613,6686:127	1|0:95,77:172:99:2226,0,2630:127
11	17172133	.	T	C	50806.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=649;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2302511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2302511" target="_blank">rs2302511</a>;ExAC.Info.AC=118225;ExAC.Info.AN=126702;ExAC.Info.AF=0.933;ExAC.Info.AC_Het=6213;ExAC.Info.AC_Hom=55957;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala413Ala/c.1239A>G;snpeff.Amino_Acid_length=1686;snpeff.Gene_Name=PIK3C2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2A" target="_blank">PIK3C2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265970;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265970;SAVANT_GENE=PIK3C2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2A" target="_blank">PIK3C2A</a>;SAVANT_INFO=-/83.2kb/32/8.2kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.1239A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3C2A+c.1239A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17172133">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,171:171:99:5944,514,0:127	1|1:0,255:255:99:8808,765,0:127	1|1:0,223:223:99:7386,670,0:127
11	17191019	.	A	G	6484.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=590;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs214936;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=214936" target="_blank">rs214936</a>;ExAC.Info.AC=52466;ExAC.Info.AN=126700;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=29701;ExAC.Info.AC_Hom=11378;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_clathrin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.270A>G;snpeff.Amino_Acid_length=1686;snpeff.Gene_Name=PIK3C2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2A" target="_blank">PIK3C2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile90Ile/c.270T>C;snpeff.Amino_Acid_length=1686;snpeff.Gene_Name=PIK3C2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2A" target="_blank">PIK3C2A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265970;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265970;SAVANT_GENE=PIK3C2A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PIK3C2A" target="_blank">PIK3C2A</a>;SAVANT_INFO=-/83.2kb/32/8.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.270T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PIK3C2A+c.270T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17191019">View</a>	GT:AD:DP:GQ:PL:TP	0|0:179,0:179:99:0,538,6068:127	0|1:114,107:221:99:3261,0,3487:127	0|0:190,0:190:99:0,571,6867:127
11	17333663	.	G	A	13846.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2521998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2521998" target="_blank">rs2521998</a>;ExAC.Info.AC=125072;ExAC.Info.AN=125076;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=62344;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.908G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.908G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.908G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.908G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.908G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.908G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.908G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.908G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.908G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.908G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser303Asn/c.908G>A;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529010;SAVANT_GENE=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;SAVANT_INFO=+/55.4kb/14/2.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.908G>A_p.Ser303Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUCB2+c.908G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17333663">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:1724,159,0:127	1|1:0,73:73:99:2546,219,0:127	1|1:0,56:56:99:1930,168,0:127
11	17339127	.	T	C	14256.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2634462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2634462" target="_blank">rs2634462</a>;ExAC.Info.AC=9006;ExAC.Info.AN=13498;ExAC.Info.AF=0.667;ExAC.Info.AC_Het=2289;ExAC.Info.AC_Hom=2697;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1002+2105T>C;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003T>C;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003T>C;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003T>C;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003T>C;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003T>C;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003T>C;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003T>C;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1003T>C;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529010;SAVANT_GENE=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;SAVANT_INFO=+/55.4kb/14/2.3kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1002+2105T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUCB2+c.1002+2105T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17339127">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2358,204,0:127	1|0:32,40:72:99:1327,0,936:127	1|1:0,67:67:99:2456,201,0:127
11	17352901	.	A	G	1274.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72863694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72863694" target="_blank">rs72863694</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1256-58A>G;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1256A>G;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1256A>G;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1256A>G;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1256A>G;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1256A>G;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1256A>G;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1256A>G;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_necdin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1256A>G;snpeff.Amino_Acid_length=420;snpeff.Gene_Name=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529010;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529010;SAVANT_GENE=NUCB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUCB2" target="_blank">NUCB2</a>;SAVANT_INFO=+/55.4kb/14/2.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1256-58A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUCB2+c.1256-58A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17352901">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,1098:80	0|1:15,18:33:99:656,0,422:80	0|0:27,0:27:81:0,81,936:80
11	17373438	.	G	C	4665.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34000454;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34000454" target="_blank">rs34000454</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=79;snpeff.Amino_Acid_Change=c.-79G>C;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=NCR3LG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCR3LG1" target="_blank">NCR3LG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338965;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338965;SAVANT_GENE=RP1-239B22.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-239B221" target="_blank">RP1-239B221</a>;SAVANT_INFO=+/25.6kb/5/6.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-79G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP1-239B221+c.-79G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17373438">View</a>	GT:AD:DP:GQ:PL:TP	0|0:130,0:130:99:0,391,4617:127	0|1:74,84:158:99:2350,0,2078:127	0|0:139,0:139:99:0,417,4650:127
11	17373464	.	C	A	10149.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72865007;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72865007" target="_blank">rs72865007</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=53;snpeff.Amino_Acid_Change=c.-53C>A;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=NCR3LG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCR3LG1" target="_blank">NCR3LG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338965;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338965;SAVANT_GENE=RP1-239B22.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-239B221" target="_blank">RP1-239B221</a>;SAVANT_INFO=+/25.6kb/5/6.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-53C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP1-239B221+c.-53C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17373464">View</a>	GT:AD:DP:GQ:PL:TP	1|0:64,65:129:99:1708,0,1822:127	0|0:165,0:165:99:0,496,5440:127	1|0:75,58:133:99:1506,0,2143:127
11	17393644	.	A	G	660.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12791318;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12791318" target="_blank">rs12791318</a>;ExAC.Info.AC=3629;ExAC.Info.AN=19814;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=2576;ExAC.Info.AC_Hom=402;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His317Arg/c.950A>G;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=NCR3LG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCR3LG1" target="_blank">NCR3LG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338965;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338965;SAVANT_GENE=RP1-239B22.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-239B221" target="_blank">RP1-239B221</a>;SAVANT_INFO=+/25.6kb/5/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.950A>G_p.His317Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP1-239B221+c.950A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17393644">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1439:104	0|1:12,14:26:99:349,0,358:104	0|0:35,0:35:99:0,105,1083:104
11	17394037	.	CTT	C	10595.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs61406813;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61406813" target="_blank">rs61406813</a>;ExAC.Info.AC=1023;ExAC.Info.AN=22004;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=871;ExAC.Info.AC_Hom=29;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=acttta/;snpeff.Amino_Acid_Change=p.Thr448fs/c.1344_1345delTT;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=NCR3LG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCR3LG1" target="_blank">NCR3LG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338965;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000338965;SAVANT_GENE=RP1-239B22.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-239B221" target="_blank">RP1-239B221</a>;SAVANT_INFO=+/25.6kb/5/6.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1345_1346delTT;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP1-239B221+c.1345_1346delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17394037">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,43:97:99:1643,0,2138:127	0|0:113,0:113:99:0,340,5061:127	1|0:50,55:105:99:2159,0,1927:127
11	17394073	.	C	G	8387.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs10832778;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10832778" target="_blank">rs10832778</a>;ExAC.Info.AC=11980;ExAC.Info.AN=20196;ExAC.Info.AF=0.593;ExAC.Info.AC_Het=2923;ExAC.Info.AC_Hom=2714;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=14;snpeff.Amino_Acid_Change=c.*14C>G;snpeff.Amino_Acid_length=454;snpeff.Gene_Name=NCR3LG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NCR3LG1" target="_blank">NCR3LG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338965;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338965;SAVANT_GENE=RP1-239B22.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-239B221" target="_blank">RP1-239B221</a>;SAVANT_INFO=+/25.6kb/5/6.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*14C>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP1-239B221+c.*14C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17394073">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,34:78:99:1006,0,1370:127	0/1:45,38:83:99:1197,0,1270:127	0/1:39,43:82:99:1364,0,1099:127
11	17408404	.	C	T	8008.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_2|_601820_(3)|_Diabetes|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_permanent_neonatal|_with_neurologic_features|_606176_(3)|_{Diabetes_mellitus|_type_2|_susceptibility_to}|_125853_(3)|_Diabetes_mellitus|_transient_neonatal|_3|_610582_(3);dbSNP139.ID=rs5213;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5213" target="_blank">rs5213</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=62;snpeff.Amino_Acid_Change=c.*62G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=KCNJ11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ11" target="_blank">KCNJ11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339994;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339994;SAVANT_GENE=KCNJ11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ11" target="_blank">KCNJ11</a>;SAVANT_INFO=-/2.8kb/1/2.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*62G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNJ11+c.*62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17408404">View</a>	GT:AD:DP:GQ:PL:TP	0/1:35,29:64:99:836,0,1060:127	0/1:34,52:86:99:1616,0,1014:127	0/1:34,39:73:99:1045,0,977:127
11	17408630	.	C	T	20110.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=617;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_2|_601820_(3)|_Diabetes|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_permanent_neonatal|_with_neurologic_features|_606176_(3)|_{Diabetes_mellitus|_type_2|_susceptibility_to}|_125853_(3)|_Diabetes_mellitus|_transient_neonatal|_3|_610582_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs5215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5215" target="_blank">rs5215</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes_mellitus_2|_association_with;hgmd_2014.2.OMIM_ID=600937;hgmd_2014.2.PubMed=17257281;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17257281" target="_blank">17257281</a>;ExAC.Info.AC=81462;ExAC.Info.AN=126704;ExAC.Info.AF=0.643;ExAC.Info.AC_Het=28018;ExAC.Info.AC_Hom=26713;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000146099;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val337Ile/c.1009G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=KCNJ11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ11" target="_blank">KCNJ11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339994;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339994;SAVANT_GENE=KCNJ11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ11" target="_blank">KCNJ11</a>;SAVANT_INFO=-/2.8kb/1/2.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1009G>A_p.Val337Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNJ11+c.1009G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17408630">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000146099" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:85,96:181:99:2537,0,2330:127	0/1:122,113:235:99:3209,0,3437:127	0/1:92,109:201:99:3035,0,2424:127
11	17409572	.	T	C	11575.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_2|_601820_(3)|_Diabetes|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_permanent_neonatal|_with_neurologic_features|_606176_(3)|_{Diabetes_mellitus|_type_2|_susceptibility_to}|_125853_(3)|_Diabetes_mellitus|_transient_neonatal|_3|_610582_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs5219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5219" target="_blank">rs5219</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Diabetes_mellitus_2|_association_with;hgmd_2014.2.OMIM_ID=600937;hgmd_2014.2.PubMed=9867219;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=9867219" target="_blank">9867219</a>;ExAC.Info.AC=81697;ExAC.Info.AN=126686;ExAC.Info.AF=0.645;ExAC.Info.AC_Het=27766;ExAC.Info.AC_Hom=26867;Clinvar.ClinicalSignificance=Benign|drug_response|risk_factor;Clinvar.RCVaccession=RCV000009214|RCV000020356|RCV000009215|RCV000146116;Clinvar.PhenotypeIDs=|GeneReviews:NBK1447|MedGen:C1833104|OMIM:606176|Orphanet:ORPHA79134|Orphanet:ORPHA99885|MedGen:C0011860|OMIM:125853|SNOMED_CT:44054006|MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys23Glu/c.67A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=KCNJ11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ11" target="_blank">KCNJ11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339994;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339994;SAVANT_GENE=KCNJ11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ11" target="_blank">KCNJ11</a>;SAVANT_INFO=-/2.8kb/1/2.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.67A>G_p.Lys23Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNJ11+c.67A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17409572">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000009214%20OR%20RCV000020356%20OR%20RCV000009215%20OR%20RCV000146116" target="_blank">Benign|drug_response|risk_factor</a> 	GT:AD:DP:GQ:PL:TP	0/1:56,41:97:99:1130,0,1669:127	0/1:60,70:130:99:1940,0,1787:127	0/1:62,50:112:99:1389,0,1702:127
11	17410283	.	C	T	3253.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_2|_601820_(3)|_Diabetes|_permanent_neonatal|_606176_(3)|_Diabetes_mellitus|_permanent_neonatal|_with_neurologic_features|_606176_(3)|_{Diabetes_mellitus|_type_2|_susceptibility_to}|_125853_(3)|_Diabetes_mellitus|_transient_neonatal|_3|_610582_(3);dbSNP139.ID=rs5222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5222" target="_blank">rs5222</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=KCNJ11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ11" target="_blank">KCNJ11</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ11" target="_blank">KCNJ11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=KCNJ11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17410283">View</a>	GT:AD:DP:GQ:PL:TP	1|0:12,27:39:99:723,0,367:127	0|0:43,0:43:99:0,129,1583:127	1|0:8,18:26:99:577,0,242:127
11	17415190	.	C	G	8201.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs4148646;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4148646" target="_blank">rs4148646</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4611+54G>C;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4612C>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=In38/39;SAVANT_HGVS=c.4608+54G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.4608+54G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17415190">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,27:53:99:824,0,731:127	0/1:35,42:77:99:1309,0,1050:127	0/1:20,34:54:99:1061,0,624:127
11	17417337	.	C	T	6053.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs8192691;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8192691" target="_blank">rs8192691</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4201+62G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4202C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=In34/35;SAVANT_HGVS=c.4198+62G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.4198+62G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17417337">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,42:80:99:1139,0,1183:127	0|0:94,0:94:99:0,283,3417:127	1|0:44,40:84:99:1143,0,1495:127
11	17417504	.	A	G	7260.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs739689;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=739689" target="_blank">rs739689</a>;ExAC.Info.AC=34849;ExAC.Info.AN=109948;ExAC.Info.AF=0.317;ExAC.Info.AC_Het=7114;ExAC.Info.AC_Hom=3224;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4123-27T>C;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4123A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.4120-27T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.4120-27T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17417504">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,42:70:99:1264,0,738:127	0/1:25,40:65:99:1207,0,623:127	0/1:20,30:50:99:909,0,569:127
11	17418477	.	C	A	8653.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs757110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=757110" target="_blank">rs757110</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Enhanced_insulin_secretion_in_pregnancy|_association;hgmd_2014.2.OMIM_ID=600509;hgmd_2014.2.PubMed=11117432;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11117432" target="_blank">11117432</a>;ExAC.Info.AC=81186;ExAC.Info.AN=126704;ExAC.Info.AF=0.641;ExAC.Info.AC_Het=27987;ExAC.Info.AC_Hom=26526;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000144996;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transporter_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=38;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4108C>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=39;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Tcc;snpeff.Amino_Acid_Change=p.Ala1370Ser/c.4108G>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=Ex33;SAVANT_HGVS=c.4105G>T_p.Ala1369Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.4105G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17418477">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144996" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:38,35:73:99:935,0,1312:127	0/1:56,45:101:99:1372,0,1751:127	0/1:27,35:62:99:981,0,777:127
11	17419279	.	C	T	8208.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1799859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799859" target="_blank">rs1799859</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hyperinsulinaemia|_association_with;hgmd_2014.2.OMIM_ID=600509;hgmd_2014.2.PubMed=9799081;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=9799081" target="_blank">9799081</a>;ExAC.Info.AC=36970;ExAC.Info.AN=126700;ExAC.Info.AF=0.292;ExAC.Info.AC_Het=23373;ExAC.Info.AC_Hom=6744;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000144994;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3822C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3822C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3822C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3822C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3822C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3822C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3822C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3822C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3822C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg1274Arg/c.3822G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.3819G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.3819G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17419279">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144994" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0/1:29,39:68:99:1064,0,900:127	0/1:45,37:82:99:1115,0,1369:127	0/1:45,42:87:99:1180,0,1309:127
11	17429922	.	T	C	12879.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs2106865;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2106865" target="_blank">rs2106865</a>;ExAC.Info.AC=77493;ExAC.Info.AN=126694;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=29295;ExAC.Info.AC_Hom=23949;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2823+17A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2820+17A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.2820+17A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17429922">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,43:85:99:1204,0,1127:127	0|1:35,41:76:99:1285,0,894:127	1|1:0,87:87:99:3104,261,0:127
11	17436936	.	A	G	31222.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs4148626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4148626" target="_blank">rs4148626</a>;ExAC.Info.AC=108557;ExAC.Info.AN=125548;ExAC.Info.AF=0.865;ExAC.Info.AC_Het=10087;ExAC.Info.AC_Hom=35647;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2259-50T>C;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2256-50T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.2256-50T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17436936">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3473,321,0:127	1|1:0,164:164:99:5801,493,0:127	1|1:0,102:102:99:3748,306,0:127
11	17448704	.	G	A	16281.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=356;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs1799854;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799854" target="_blank">rs1799854</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes_mellitus_2|_association_with;hgmd_2014.2.OMIM_ID=600509;hgmd_2014.2.PubMed=8635661;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=8635661" target="_blank">8635661</a>;ExAC.Info.AC=54220;ExAC.Info.AN=126690;ExAC.Info.AF=0.428;ExAC.Info.AC_Het=29060;ExAC.Info.AC_Hom=12293;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2117-3C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2117C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2117-3C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.2117-3C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17448704">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,66:114:99:1788,0,1447:127	0|1:81,66:147:99:1835,0,2565:127	1|1:0,95:95:99:3310,286,0:127
11	17449929	.	C	T	9424.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=327;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs1799858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799858" target="_blank">rs1799858</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes|_type_2|_association_with;hgmd_2014.2.OMIM_ID=600509;hgmd_2014.2.PubMed=14551916;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=14551916" target="_blank">14551916</a>;ExAC.Info.AC=22522;ExAC.Info.AN=126702;ExAC.Info.AF=0.178;ExAC.Info.AC_Het=17964;ExAC.Info.AC_Hom=2246;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000144981;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys649Lys/c.1947G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1947G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.1947G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17449929">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144981" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:59,62:121:99:1696,0,1719:127	1|0:57,74:131:99:2167,0,1624:127	0|0:75,0:75:99:0,225,2678:127
11	17452492	.	G	A	16191.03	PASS	InGeneList;InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs1799857;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799857" target="_blank">rs1799857</a>;ExAC.Info.AC=54084;ExAC.Info.AN=126700;ExAC.Info.AF=0.427;ExAC.Info.AC_Het=30341;ExAC.Info.AC_Hom=11789;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000144979;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ABC_transmembrane_type-1_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His562His/c.1686C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1686C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.1686C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17452492">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144979" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,73:73:99:2606,220,0:127	1|0:33,69:102:99:2198,0,930:127	1|0:34,40:74:99:1262,0,1010:127
11	17483038	.	C	T	9773.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=534;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs2074317;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2074317" target="_blank">rs2074317</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.822+92G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.823C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.823C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.822+92G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.822+92G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17483038">View</a>	GT:AD:DP:GQ:PL:TP	1|0:96,77:173:99:2049,0,2789:127	0|0:202,0:202:99:0,607,6892:127	1|0:75,84:159:99:2321,0,2116:127
11	17484971	.	G	A	1358.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs2301703;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2301703" target="_blank">rs2301703</a>;ExAC.Info.AC=46889;ExAC.Info.AN=126070;ExAC.Info.AF=0.372;ExAC.Info.AC_Het=21543;ExAC.Info.AC_Hom=7164;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.579+14C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.580G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.580G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.579+14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.579+14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17484971">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2248:127	0|0:77,0:77:99:0,232,2907:127	0|1:24,23:47:99:698,0,814:127
11	17491571	.	C	T	1610.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs10400389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10400389" target="_blank">rs10400389</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.412+77G>A;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.413C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.413C>T;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.412+77G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.412+77G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17491571">View</a>	GT:AD:DP:GQ:PL:TP	0|0:55,0:55:99:0,165,2105:127	0|0:60,0:60:99:0,180,2266:127	0|1:33,28:61:99:824,0,973:127
11	17496516	.	A	G	8474.03	PASS	InGeneList;InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=458;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperinsulinemic_hypoglycemia|_familial|_1|_256450_(3)|_Hypoglycemia_of_infancy|_leucine-sensitive|_240800_(3)|_Diabetes_mellitus|_transient_neonatal_2|__610374_(3)|_Diabetes_mellitus|_noninsulin-dependent|_125853_(3)|_Diabetes_mellitus|_permanent_neonatal|_606176_(3);dbSNP139.ID=rs1048099;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048099" target="_blank">rs1048099</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Diabetes_mellitus|_protection_against;hgmd_2014.2.OMIM_ID=600509;hgmd_2014.2.PubMed=21671119;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21671119" target="_blank">21671119</a>;ExAC.Info.AC=59645;ExAC.Info.AN=126700;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=30672;ExAC.Info.AC_Hom=14413;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000144982;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.207A>G;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro69Pro/c.207T>C;snpeff.Amino_Acid_length=1582;snpeff.Gene_Name=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302539;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000389817;SAVANT_GENE=ABCC8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC8" target="_blank">ABCC8</a>;SAVANT_INFO=-/84.0kb/39/4.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.207T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABCC8+c.207T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17496516">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144982" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,405,4655:127	0|1:104,81:185:99:2234,0,3150:127	0|1:67,71:138:99:2023,0,1938:127
11	17515833	.	A	G	8338.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs1055574;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1055574" target="_blank">rs1055574</a>;ExAC.Info.AC=51239;ExAC.Info.AN=125834;ExAC.Info.AF=0.407;ExAC.Info.AC_Het=22447;ExAC.Info.AC_Hom=8577;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17515833">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,46:82:99:1338,0,905:127	0|0:96,0:96:99:0,288,3131:127	1|1:0,70:70:99:2450,210,0:127
11	17515970	.	G	A	6904.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=198;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2072225;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2072225" target="_blank">rs2072225</a>;ExAC.Info.AC=39724;ExAC.Info.AN=122298;ExAC.Info.AF=0.325;ExAC.Info.AC_Het=11215;ExAC.Info.AC_Hom=3531;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2656-47C>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2656-47C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.2656-47C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17515970">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,23:51:99:612,0,803:127	0|0:82,0:82:99:0,246,3011:127	1|1:0,65:65:99:2227,195,0:127
11	17517235	.	A	G	17225.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=422;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs10832795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10832795" target="_blank">rs10832795</a>;ExAC.Info.AC=51374;ExAC.Info.AN=126704;ExAC.Info.AF=0.405;ExAC.Info.AC_Het=29739;ExAC.Info.AC_Hom=10782;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000041284;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2547-11T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.2547-11T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.2547-11T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17517235">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000041284" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:65,80:145:99:2197,0,1743:127	1|1:0,149:149:99:5139,447,0:127	0|0:127,1:128:99:0,352,4218:127
11	17519742	.	C	G	20521.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=662;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1064074;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1064074" target="_blank">rs1064074</a>;ExAC.Info.AC=61782;ExAC.Info.AN=126704;ExAC.Info.AF=0.488;ExAC.Info.AC_Het=30735;ExAC.Info.AC_Hom=15522;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000041279;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:PDZ_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457C>G;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457C>G;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457C>G;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2457C>G;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu819Asp/c.2457G>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.2457G>C_p.Glu819Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.2457G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17519742">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000041279" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:103,121:224:99:3269,0,2898:127	0|0:257,0:257:99:0,772,8814:127	1|1:0,181:181:99:6051,543,0:127
11	17522638	.	G	A	9873.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=509;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs10832796;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10832796" target="_blank">rs10832796</a>;ExAC.Info.AC=31667;ExAC.Info.AN=126692;ExAC.Info.AF=0.250;ExAC.Info.AC_Het=22870;ExAC.Info.AC_Hom=4232;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000041273;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[domain:PDZ_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2340G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2340G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2340G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2340G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val780Val/c.2340C>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.2340C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.2340C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17522638">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000041273" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|0:90,78:168:99:1995,0,2605:127	0|0:202,2:204:99:0,572,6768:127	1|0:73,64:137:99:1791,0,2098:127
11	17523474	.	G	A	2702.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs17703528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17703528" target="_blank">rs17703528</a>;ExAC.Info.AC=8565;ExAC.Info.AN=126698;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=7396;ExAC.Info.AC_Hom=561;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000126233|RCV000041271;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2226+12C>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2226+12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.2226+12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17523474">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000126233%20OR%20RCV000041271" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,252,2802:127	0|1:71,55:126:99:1370,0,1844:127	0|0:73,0:73:99:0,219,2563:127
11	17526254	.	GA	G	2871.51	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2134-11delT;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.2134-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.2134-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17526254">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,8:82:24:0,24,1728:24	0|1:49,66:115:99:1434,0,940:24	0|0:96,6:102:99:0,157,2386:24
11	17531146	.	G	A	1626.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs17776775;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17776775" target="_blank">rs17776775</a>;ExAC.Info.AC=7431;ExAC.Info.AN=126368;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=5767;ExAC.Info.AC_Hom=462;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000041257;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala590Ala/c.1770C>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.1770C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.1770C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17531146">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000041257" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,105,1277:101	0|1:23,26:49:99:832,0,705:101	0|0:35,0:35:99:0,105,1277:101
11	17531449	.	G	T	4236.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=77;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2237965;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2237965" target="_blank">rs2237965</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1531-64C>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.1531-64C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.1531-64C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17531449">View</a>	GT:AD:DP:GQ:PL:TP	0|1:9,16:25:99:426,0,292:87	1|1:0,29:29:87:1049,87,0:87	0|1:8,15:23:99:479,0,257:87
11	17532102	.	C	T	13271.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2237964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2237964" target="_blank">rs2237964</a>;ExAC.Info.AC=20536;ExAC.Info.AN=126700;ExAC.Info.AF=0.162;ExAC.Info.AC_Het=16355;ExAC.Info.AC_Hom=2023;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1414-34G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1414-34G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.1414-34G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17532102">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,60:115:99:1555,0,1704:127	1|1:0,129:129:99:4329,388,0:127	0|0:161,0:161:99:0,484,5408:127
11	17533397	.	G	A	1726.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2190453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2190453" target="_blank">rs2190453</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1413+52C>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1413+52C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.1413+52C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17533397">View</a>	GT:AD:DP:GQ:PL:TP	0|0:84,0:84:99:0,252,2884:127	0|0:97,0:97:99:0,292,3402:127	0|1:32,27:59:99:882,0,918:127
11	17533635	.	G	A	19752.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=458;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2190454;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2190454" target="_blank">rs2190454</a>;ExAC.Info.AC=90556;ExAC.Info.AN=126700;ExAC.Info.AF=0.715;ExAC.Info.AC_Het=25268;ExAC.Info.AC_Hom=32579;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1261-34C>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1261-34C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.1261-34C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17533635">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,62:136:99:1510,0,2204:127	1|1:0,173:173:99:5740,520,0:127	0|1:84,65:149:99:1847,0,2492:127
11	17542439	.	T	C	7336.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=776;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2240487;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2240487" target="_blank">rs2240487</a>;ExAC.Info.AC=72057;ExAC.Info.AN=126702;ExAC.Info.AF=0.569;ExAC.Info.AC_Het=29874;ExAC.Info.AC_Hom=21089;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000041251;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro396Pro/c.1188A>G;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1188A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.1188A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17542439">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000041251" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:231,0:231:99:0,694,7808:127	0|0:280,1:281:99:0,805,9917:127	0|1:136,128:264:99:3687,0,3572:127
11	17542583	.	C	T	12814.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=565;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2108332;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2108332" target="_blank">rs2108332</a>;ExAC.Info.AC=77936;ExAC.Info.AN=126704;ExAC.Info.AF=0.615;ExAC.Info.AC_Het=29411;ExAC.Info.AC_Hom=24254;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1086-42G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086C>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086C>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086C>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1086-42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.1086-42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17542583">View</a>	GT:AD:DP:GQ:PL:TP	0|0:191,0:191:99:0,581,9382:127	0|1:116,93:209:99:3541,0,5125:127	0|1:89,76:165:99:2886,0,3783:127
11	17542586	.	T	C	12726.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=550;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2041031;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2041031" target="_blank">rs2041031</a>;ExAC.Info.AC=77942;ExAC.Info.AN=126704;ExAC.Info.AF=0.615;ExAC.Info.AC_Het=29413;ExAC.Info.AC_Hom=24255;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1086-45A>G;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1086-45A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.1086-45A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17542586">View</a>	GT:AD:DP:GQ:PL:TP	0|0:188,0:188:99:0,578,9350:127	0|1:111,93:204:99:3572,0,5122:127	0|1:88,70:158:99:2811,0,3789:127
11	17542872	.	G	C	3043.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=350;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2240488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2240488" target="_blank">rs2240488</a>;ExAC.Info.AC=58932;ExAC.Info.AN=126704;ExAC.Info.AF=0.465;ExAC.Info.AC_Het=30619;ExAC.Info.AC_Hom=14152;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000041248;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1085+21C>G;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086G>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086G>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1086G>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1085+21C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.1085+21C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17542872">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000041248" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:94,0:94:99:0,283,3372:127	0|0:152,0:152:99:0,457,5369:127	0|1:55,49:104:99:1540,0,1561:127
11	17548015	.	C	T	11755.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=557;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs6486378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6486378" target="_blank">rs6486378</a>;ExAC.Info.AC=38846;ExAC.Info.AN=126652;ExAC.Info.AF=0.307;ExAC.Info.AC_Het=25714;ExAC.Info.AC_Hom=5734;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.580-27G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.580-27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.580-27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17548015">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,87:163:99:2306,0,2731:127	0|0:224,0:224:99:0,676,8207:127	1|0:94,76:170:99:2009,0,2711:127
11	17548039	.	G	A	10589.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=410;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs36001077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36001077" target="_blank">rs36001077</a>;ExAC.Info.AC=1349;ExAC.Info.AN=126538;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1121;ExAC.Info.AC_Hom=10;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.580-51C>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.580-51C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.580-51C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17548039">View</a>	GT:AD:DP:GQ:PL:TP	0|1:70,62:132:99:1740,0,2635:127	1|0:86,76:162:99:2257,0,2600:127	0|0:116,0:116:99:0,376,4806:127
11	17548401	.	CG	C	7379.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=202;MQ=70.02;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs5789990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5789990" target="_blank">rs5789990</a>;ExAC.Info.AC=41031;ExAC.Info.AN=126660;ExAC.Info.AF=0.324;ExAC.Info.AC_Het=26957;ExAC.Info.AC_Hom=6479;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.522-45delC;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.522-45delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.522-45delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17548401">View</a>	GT:AD:DP:GQ:PL:TP	1|0:26,41:67:99:1439,0,832:127	0|0:69,0:69:99:0,208,2784:127	1|0:27,39:66:99:1379,0,872:127
11	17548507	.	T	C	2116.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs41282940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41282940" target="_blank">rs41282940</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.521+56A>G;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.521+56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.521+56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17548507">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1522:127	0|1:32,37:69:99:1077,0,895:127	0|0:43,0:43:99:0,129,1427:127
11	17548737	.	T	C	11549.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=122;MQ=69.19;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs12795083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12795083" target="_blank">rs12795083</a>;ExAC.Info.AC=29726;ExAC.Info.AN=33606;ExAC.Info.AF=0.885;ExAC.Info.AC_Het=2099;ExAC.Info.AC_Hom=13116;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.496+33A>G;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PDZ_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.497T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.496+33A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.496+33A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17548737">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,39:39:99:1495,113,0:111	1|1:0,44:44:99:1767,125,0:111	1|1:0,39:39:99:1447,112,0:111
11	17553105	.	G	A	11905.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2041027;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2041027" target="_blank">rs2041027</a>;ExAC.Info.AC=52961;ExAC.Info.AN=126686;ExAC.Info.AF=0.418;ExAC.Info.AC_Het=30420;ExAC.Info.AC_Hom=10918;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000041247;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.105-16C>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.105G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.105G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.105G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.105G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.105G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.105G>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.105-16C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.105-16C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17553105">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000041247" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2222,204,0:127	1|0:61,46:107:99:1257,0,1888:127	1|0:34,29:63:99:852,0,977:127
11	17554910	.	A	ACC	5370.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=111;MQ=71.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs5789992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5789992" target="_blank">rs5789992</a>;ExAC.Info.AC=19124;ExAC.Info.AN=124870;ExAC.Info.AF=0.153;ExAC.Info.AC_Het=25149;ExAC.Info.AC_Hom=1654;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.37-41_37-42insGG;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37_38insCC;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37_38insCC;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37_38insCC;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37_38insCC;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37_38insCC;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37_38insCC;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.37-43_37-42dupGG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.37-43_37-42dupGG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17554910">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,21:21:62:826,62,0:62	1|0:28,23:51:99:759,0,1099:62	1|0:31,8:39:99:202,0,1416:62
11	17554914	.	G	C	9190.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=117;MQ=71.05;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2240489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2240489" target="_blank">rs2240489</a>;ExAC.Info.AC=63148;ExAC.Info.AN=124580;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=26466;ExAC.Info.AC_Hom=15659;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.37-45C>G;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37G>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37G>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37G>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37G>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37G>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37G>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.37-45C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.37-45C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17554914">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:1020,72,0:72	1|1:0,52:52:99:2319,159,0:72	1|0:32,9:41:99:231,0,1397:72
11	17554916	.	C	A	2196.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=119;MQ=71.04;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs2355022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2355022" target="_blank">rs2355022</a>;ExAC.Info.AC=16737;ExAC.Info.AN=125912;ExAC.Info.AF=0.133;ExAC.Info.AC_Het=11853;ExAC.Info.AC_Hom=2016;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.37-47G>T;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37C>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37C>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37C>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37C>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37C>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37C>A;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.37-47G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.37-47G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17554916">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,1046:74	0|1:24,29:53:99:1117,0,884:74	0|0:41,0:41:99:0,123,1917:74
11	17554930	.	T	C	4953.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=101;MQ=71.16;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Usher_syndrome|_type_1C|_276904_(3)|_Deafness|_autosomal_recessive_18A|_602092_(3);dbSNP139.ID=rs878546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=878546" target="_blank">rs878546</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.37-61A>G;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:N-terminal_domain];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37T>C;snpeff.Amino_Acid_length=899;snpeff.Gene_Name=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005226;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005226;SAVANT_GENE=USH1C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C" target="_blank">USH1C</a>;SAVANT_INFO=-/50.0kb/27/2.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.37-61A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=USH1C+c.37-61A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17554930">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:910,72,0:72	1|0:23,20:43:99:663,0,698:72	1|0:27,7:34:99:144,0,814:72
11	17574588	.	T	C	26862.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=369;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs4757543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4757543" target="_blank">rs4757543</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.329-78T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.329T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.329T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.329T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EGF-like];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.329T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.329-78T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.329-78T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17574588">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3753,312,0:127	1|1:0,127:127:99:4747,381,0:127	1|0:70,68:138:99:2035,0,1876:127
11	17577223	.	C	T	2218.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4757544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4757544" target="_blank">rs4757544</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.577-103C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.577C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.577-103C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.577-103C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17577223">View</a>	GT:AD:DP:GQ:PL:TP	0|0:75,0:75:99:0,225,2709:127	0|0:113,0:113:99:0,340,4131:127	0|1:40,39:79:99:1128,0,1189:127
11	17579783	.	C	A	1426.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61611064;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61611064" target="_blank">rs61611064</a>;ExAC.Info.AC=3367;ExAC.Info.AN=25276;ExAC.Info.AF=0.133;ExAC.Info.AC_Het=2499;ExAC.Info.AC_Hom=290;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.953C>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.953C>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.953C>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.953C>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.953C>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gAc;snpeff.Amino_Acid_Change=p.Ala318Asp/c.953C>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.953C>A_p.Ala318Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.953C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17579783">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1826:127	0|0:73,0:73:99:0,218,2458:127	0|1:22,26:48:99:732,0,673:127
11	17580998	.	T	C	3174.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10832798;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10832798" target="_blank">rs10832798</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1250-83T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1250-83T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.1250-83T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17580998">View</a>	GT:AD:DP:GQ:PL:TP	0|0:83,0:83:99:0,253,4898:127	0|0:97,0:97:99:0,295,6076:127	0|1:34,41:75:99:1606,0,2017:127
11	17580999	.	C	T	3174.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=255;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10832799;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10832799" target="_blank">rs10832799</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1250-82C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1250-82C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.1250-82C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17580999">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,253,4898:127	0|0:98,0:98:99:0,295,6076:127	0|1:34,41:75:99:1606,0,2017:127
11	17591961	.	C	T	2516.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10832802;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10832802" target="_blank">rs10832802</a>;ExAC.Info.AC=7836;ExAC.Info.AN=21796;ExAC.Info.AF=0.360;ExAC.Info.AC_Het=4052;ExAC.Info.AC_Hom=1461;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1991+24C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1992C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1992C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1992C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1992C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1992C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1991+24C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.1991+24C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17591961">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2860:127	0|0:115,0:115:99:0,346,4084:127	0|1:34,40:74:99:1277,0,1050:127
11	17593709	.	T	C	3174.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=499;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7106548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7106548" target="_blank">rs7106548</a>;ExAC.Info.AC=9192;ExAC.Info.AN=24792;ExAC.Info.AF=0.371;ExAC.Info.AC_Het=3782;ExAC.Info.AC_Hom=1520;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2074T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2074T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2074T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2074T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2074T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Cct;snpeff.Amino_Acid_Change=p.Ser692Pro/c.2074T>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2074T>C_p.Ser692Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.2074T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17593709">View</a>	GT:AD:DP:GQ:PL:TP	0|0:182,0:182:99:0,546,5807:127	0|0:192,0:192:99:0,577,6642:127	0|1:72,53:125:99:1606,0,2001:127
11	17594897	.	C	T	556.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs757986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=757986" target="_blank">rs757986</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2329+60C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TIL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2330C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TIL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2330C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2329+60C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.2329+60C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17594897">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1135:95	0|0:42,0:42:99:0,126,1417:95	0|1:10,11:21:99:297,0,350:95
11	17594912	.	G	C	532.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs757987;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=757987" target="_blank">rs757987</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2329+75G>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TIL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2330G>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TIL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2330G>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In18/19;SAVANT_HGVS=c.2329+75G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.2329+75G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17594912">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1183:98	0|0:41,0:41:99:0,123,1400:98	0|1:10,10:20:99:285,0,351:98
11	17596313	.	G	A	2902.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4757548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4757548" target="_blank">rs4757548</a>;ExAC.Info.AC=8080;ExAC.Info.AN=27242;ExAC.Info.AF=0.297;ExAC.Info.AC_Het=4109;ExAC.Info.AC_Hom=1196;snpeff.Effect=sequence_feature[domain:TIL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:TIL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2376G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro792Pro/c.2376G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex19;SAVANT_HGVS=c.2376G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.2376G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17596313">View</a>	GT:AD:DP:GQ:PL:TP	0|0:113,0:113:99:0,339,3757:127	0|0:139,0:139:99:0,418,4840:127	0|1:45,50:95:99:1470,0,1335:127
11	17598187	.	G	A	3234.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4756901;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4756901" target="_blank">rs4756901</a>;ExAC.Info.AC=7140;ExAC.Info.AN=22904;ExAC.Info.AF=0.312;ExAC.Info.AC_Het=3994;ExAC.Info.AC_Hom=1137;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2597+10G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2597+10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.2597+10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17598187">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,283,4683:127	0|0:121,0:121:99:0,364,6833:127	0|1:43,43:86:99:1636,0,2333:127
11	17598191	.	G	A	3146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4756902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4756902" target="_blank">rs4756902</a>;ExAC.Info.AC=7320;ExAC.Info.AN=23024;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=4045;ExAC.Info.AC_Hom=1177;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2597+14G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2597+14G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.2597+14G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17598191">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,274,4631:127	0|0:117,0:117:99:0,364,6833:127	0|1:43,41:84:99:1592,0,2321:127
11	17600033	.	G	A	1536.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2355466;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2355466" target="_blank">rs2355466</a>;ExAC.Info.AC=6672;ExAC.Info.AN=22084;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=3594;ExAC.Info.AC_Hom=1047;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala919Thr/c.2755G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.2755G>A_p.Ala919Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.2755G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17600033">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2283:127	0|0:106,0:106:99:0,317,3570:127	0|1:36,32:68:99:787,0,1099:127
11	17612972	.	T	G	3616.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs720460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=720460" target="_blank">rs720460</a>;ExAC.Info.AC=6872;ExAC.Info.AN=24376;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=3795;ExAC.Info.AC_Hom=1020;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2904-25T>G;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.2904-25T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.2904-25T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17612972">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1615:127	0|1:36,38:74:99:1249,0,1022:127	0|1:34,18:52:99:579,0,1033:127
11	17615203	.	G	A	2058.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11024333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11024333" target="_blank">rs11024333</a>;ExAC.Info.AC=3424;ExAC.Info.AN=25018;ExAC.Info.AF=0.137;ExAC.Info.AC_Het=2348;ExAC.Info.AC_Hom=312;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3224G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3224G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3224G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3224G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3224G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg1075Gln/c.3224G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.3224G>A_p.Arg1075Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.3224G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17615203">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,273,2995:127	0|0:128,0:128:99:0,385,4244:127	0|1:56,38:94:99:1048,0,1547:127
11	17615556	.	A	C	1086.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11024334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11024334" target="_blank">rs11024334</a>;ExAC.Info.AC=722;ExAC.Info.AN=25566;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=573;ExAC.Info.AC_Hom=19;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3325-38A>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3325A>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3325A>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3325A>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3325A>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3325A>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.3325-38A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.3325-38A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17615556">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1332:83	0|1:16,19:35:99:562,0,512:83	0|0:28,0:28:84:0,84,1025:83
11	17615728	.	C	T	1066.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=179;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7936484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7936484" target="_blank">rs7936484</a>;ExAC.Info.AC=3335;ExAC.Info.AN=21966;ExAC.Info.AF=0.152;ExAC.Info.AC_Het=2509;ExAC.Info.AC_Hom=326;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3444+15C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3445C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3445C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3445C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3445C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFD_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3445C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.3444+15C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.3444+15C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17615728">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2274:127	0|0:65,0:65:99:0,195,2367:127	0|1:26,21:47:99:552,0,805:127
11	17627613	.	G	C	8820.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=99;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7934079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7934079" target="_blank">rs7934079</a>;ExAC.Info.AC=15489;ExAC.Info.AN=21618;ExAC.Info.AF=0.716;ExAC.Info.AC_Het=2853;ExAC.Info.AC_Hom=4962;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcg/Ccg;snpeff.Amino_Acid_Change=p.Ala1375Pro/c.4123G>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex32;SAVANT_HGVS=c.4123G>C_p.Ala1375Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.4123G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17627613">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1334,99,0:95	1|1:0,34:34:99:1268,102,0:95	1|1:0,32:32:96:1188,96,0:95
11	17631751	.	C	T	7896.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=398;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2041028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2041028" target="_blank">rs2041028</a>;ExAC.Info.AC=8819;ExAC.Info.AN=28322;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=4198;ExAC.Info.AC_Hom=1555;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4940C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cTa;snpeff.Amino_Acid_Change=p.Pro1647Leu/c.4940C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.4940C>T_p.Pro1647Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.4940C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17631751">View</a>	GT:AD:DP:GQ:PL:TP	0|0:142,0:142:99:0,427,4833:127	0|1:74,84:158:99:2362,0,2006:127	0|1:42,56:98:99:1606,0,1138:127
11	17632306	.	C	T	3284.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=315;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1003490;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1003490" target="_blank">rs1003490</a>;ExAC.Info.AC=2875;ExAC.Info.AN=29176;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=2002;ExAC.Info.AC_Hom=168;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5495C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala1832Val/c.5495C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.5495C>T_p.Ala1832Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.5495C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17632306">View</a>	GT:AD:DP:GQ:PL:TP	0|0:105,0:105:99:0,316,3705:127	0|1:54,60:114:99:1661,0,1688:127	0|0:96,0:96:99:0,288,3329:127
11	17632651	.	C	T	13504.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=635;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7111528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7111528" target="_blank">rs7111528</a>;ExAC.Info.AC=7894;ExAC.Info.AN=22136;ExAC.Info.AF=0.357;ExAC.Info.AC_Het=4055;ExAC.Info.AC_Hom=1440;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr1947Met/c.5840C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex35;SAVANT_HGVS=c.5840C>T_p.Thr1947Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.5840C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17632651">View</a>	GT:AD:DP:GQ:PL:TP	0|0:184,0:184:99:0,553,6388:127	0|1:121,133:254:99:3850,0,3422:127	0|1:98,99:197:99:2922,0,2750:127
11	17655839	.	A	T	1376.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12277962;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12277962" target="_blank">rs12277962</a>;ExAC.Info.AC=2329;ExAC.Info.AN=23458;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=1682;ExAC.Info.AC_Hom=143;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7516+11A>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7517A>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7517A>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7517A>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7517A>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7517A>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7517A>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In43/44;SAVANT_HGVS=c.7516+11A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.7516+11A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17655839">View</a>	GT:AD:DP:GQ:PL:TP	0|0:53,0:53:99:0,159,1822:125	0|1:53,28:81:99:707,0,1432:125	0|0:42,0:42:99:0,126,1456:125
11	17656686	.	C	T	4060.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=489;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11024350;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11024350" target="_blank">rs11024350</a>;ExAC.Info.AC=2706;ExAC.Info.AN=23164;ExAC.Info.AF=0.117;ExAC.Info.AC_Het=1903;ExAC.Info.AC_Hom=225;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7681C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7681C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7681C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7681C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7681C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7681C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu2561Leu/c.7681C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex45;SAVANT_HGVS=c.7681C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.7681C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17656686">View</a>	GT:AD:DP:GQ:PL:TP	0|0:153,0:153:99:0,459,4997:127	0|0:184,0:184:99:0,553,6226:127	0|1:73,79:152:99:2049,0,1979:127
11	17660181	.	G	A	2250.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12290375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12290375" target="_blank">rs12290375</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.7930+85G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7931G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=47;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7931G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=44;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7931G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=45;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7931G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=48;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7931G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=46;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Cys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7931G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=43;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In47/48;SAVANT_HGVS=c.7930+85G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.7930+85G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17660181">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2345:127	0|1:48,41:89:99:1144,0,1469:127	0|0:64,0:64:99:0,192,2260:127
11	17663416	.	G	A	3478.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12422210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12422210" target="_blank">rs12422210</a>;ExAC.Info.AC=2814;ExAC.Info.AN=22906;ExAC.Info.AF=0.123;ExAC.Info.AC_Het=2048;ExAC.Info.AC_Hom=244;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg2750Gln/c.8249G>A;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex51;SAVANT_HGVS=c.8249G>A_p.Arg2750Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.8249G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17663416">View</a>	GT:AD:DP:GQ:PL:TP	0|0:103,0:103:99:0,308,3328:127	0|1:65,62:127:99:1758,0,1762:127	0|0:83,0:83:99:0,250,3006:127
11	17663444	.	C	T	7604.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs10832824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10832824" target="_blank">rs10832824</a>;ExAC.Info.AC=6298;ExAC.Info.AN=22436;ExAC.Info.AF=0.281;ExAC.Info.AC_Het=3718;ExAC.Info.AC_Hom=987;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys2759Cys/c.8277C>T;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=51;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex51;SAVANT_HGVS=c.8277C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.8277C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17663444">View</a>	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,372,4334:127	0|1:89,84:173:99:2195,0,2591:127	0|1:53,60:113:99:1627,0,1688:127
11	17663742	.	G	C	3900.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=191;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2023483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2023483" target="_blank">rs2023483</a>;ExAC.Info.AC=6922;ExAC.Info.AN=23378;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=3698;ExAC.Info.AC_Hom=1072;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu2800Leu/c.8400G>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex52;SAVANT_HGVS=c.8400G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.8400G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17663742">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2377:127	0|1:41,31:72:99:892,0,1276:127	0|1:21,34:55:99:1078,0,560:127
11	17663862	.	A	G	1058.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=90;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2023484;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2023484" target="_blank">rs2023484</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.8451+69A>G;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=52;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=In52/53;SAVANT_HGVS=c.8451+69A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.8451+69A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17663862">View</a>	GT:AD:DP:GQ:PL:TP	0|0:32,0:32:96:0,96,1132:91	0|0:31,0:31:93:0,93,1202:91	0|1:10,17:27:99:548,0,258:91
11	17667439	.	G	C	12340.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=379;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11024357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11024357" target="_blank">rs11024357</a>;ExAC.Info.AC=4718;ExAC.Info.AN=23164;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=3153;ExAC.Info.AC_Hom=550;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8726G>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=55;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CTCK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8726G>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=55;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CTCK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8726G>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=54;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGg/tCg;snpeff.Amino_Acid_Change=p.Trp2909Ser/c.8726G>C;snpeff.Amino_Acid_length=2925;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399391;snpeff.Exon_Rank=55;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399391;SAVANT_GENE=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=+/98.6kb/55/8.8kb;SAVANT_LOC=Ex55;SAVANT_HGVS=c.8726G>C_p.Trp2909Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+c.8726G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17667439">View</a>	GT:AD:DP:GQ:PL:TP	0/1:64,48:112:99:1339,0,2054:127	0/1:76,61:137:99:1841,0,2312:127	0/1:75,55:130:99:1430,0,2363:127
11	17667561	.	G	T	9132.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=346;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11024358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11024358" target="_blank">rs11024358</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=OTOG;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OTOG" target="_blank">OTOG</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OTOG+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17667561">View</a>	GT:AD:DP:GQ:PL:TP	0/1:54,32:86:99:820,0,1873:127	0/1:72,82:154:99:2228,0,2166:127	0/1:76,30:106:99:700,0,2398:127
11	17743081	.	G	A	6049.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs139044494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139044494" target="_blank">rs139044494</a>;ExAC.Info.AC=1538;ExAC.Info.AN=120882;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=1387;ExAC.Info.AC_Hom=18;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=26;snpeff.Amino_Acid_Change=c.*26G>A;snpeff.Amino_Acid_length=320;snpeff.Gene_Name=MYOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOD1" target="_blank">MYOD1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000250003;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000250003;SAVANT_GENE=MYOD1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYOD1" target="_blank">MYOD1</a>;SAVANT_INFO=+/2.6kb/3/1.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*26G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYOD1+c.*26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17743081">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,40:82:99:999,0,1049:127	0|0:79,0:79:99:0,237,2625:127	1|0:31,36:67:99:1015,0,736:127
11	17868197	.	A	AT	23340.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3831592;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3831592" target="_blank">rs3831592</a>;ExAC.Info.AC=2867;ExAC.Info.AN=15800;ExAC.Info.AF=0.181;ExAC.Info.AC_Het=1977;ExAC.Info.AC_Hom=329;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1048+31558_1048+31557insA;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1049_1050insT;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1049_1050insT;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1049_1050insT;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000265965;SAVANT_GENE=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;SAVANT_INFO=-/225.1kb/11/1.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1048+31557_1048+31558insA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERGEF+c.1048+31557_1048+31558insA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17868197">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,70:121:99:2437,0,1603:127	0|1:82,72:154:99:2440,0,2651:127	1|1:0,130:130:99:5240,396,0:127
11	17948311	.	T	C	2914.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1468291;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1468291" target="_blank">rs1468291</a>;ExAC.Info.AC=5078;ExAC.Info.AN=15772;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=2624;ExAC.Info.AC_Hom=889;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1011+32706A>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1012T>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1012T>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1012T>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265965;SAVANT_GENE=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;SAVANT_INFO=-/225.1kb/11/1.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1011+32706A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERGEF+c.1011+32706A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17948311">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,2914:127	0|1:43,50:93:99:1476,0,1070:127	0|0:105,0:105:99:0,315,3429:127
11	17981047	.	C	T	14936.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs211146;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=211146" target="_blank">rs211146</a>;ExAC.Info.AC=77240;ExAC.Info.AN=126700;ExAC.Info.AF=0.610;ExAC.Info.AC_Het=28919;ExAC.Info.AC_Hom=24133;snpeff.Effect=sequence_feature[repeat:RCC1_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981C>T;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981C>T;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.981C>T;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser327Ser/c.981G>A;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265965;SAVANT_GENE=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;SAVANT_INFO=-/225.1kb/11/1.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.981G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERGEF+c.981G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:17981047">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:2945,270,0:127	1|0:50,34:84:99:957,0,1460:127	1|1:0,75:75:99:2592,225,0:127
11	18017517	.	T	C	3332.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs211131;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=211131" target="_blank">rs211131</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.509-61A>G;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509T>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509T>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509T>C;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265965;SAVANT_GENE=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;SAVANT_INFO=-/225.1kb/11/1.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.509-61A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERGEF+c.509-61A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18017517">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,21:62:99:465,0,1112:127	1|0:52,32:84:99:883,0,1521:127	0|0:53,0:53:99:0,159,1911:127
11	18022305	.	TCAC	T	7428.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs139990913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139990913" target="_blank">rs139990913</a>;ExAC.Info.AC=5396;ExAC.Info.AN=44542;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=2593;ExAC.Info.AC_Hom=414;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.673-204_673-202delGTG;snpeff.Gene_Name=RP1-59M18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-59M182" target="_blank">RP1-59M182</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000525523;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.448-204_448-202delGTG;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-59M182" target="_blank">RP1-59M182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.448_450delCAC;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-59M182" target="_blank">RP1-59M182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.448_450delCAC;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-59M182" target="_blank">RP1-59M182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:RCC1_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.448_450delCAC;snpeff.Amino_Acid_length=458;snpeff.Gene_Name=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-59M182" target="_blank">RP1-59M182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265965;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000265965;SAVANT_GENE=SERGEF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERGEF" target="_blank">SERGEF</a>;SAVANT_INFO=-/225.1kb/11/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.448-204_448-202delGTG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERGEF+c.448-204_448-202delGTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18022305">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,55:95:99:2134,0,1704:127	1|0:51,50:101:99:1904,0,2312:127	0|0:90,0:90:99:0,271,4434:127
11	18044304	.	C	T	28798.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs211101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=211101" target="_blank">rs211101</a>;ExAC.Info.AC=126651;ExAC.Info.AN=126656;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=62543;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.134+41G>A;snpeff.Gene_Name=RP1-59M18.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-59M182" target="_blank">RP1-59M182</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000525523;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1160+41G>A;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-59M182" target="_blank">RP1-59M182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341556;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161C>T;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-59M182" target="_blank">RP1-59M182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341556;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1161C>T;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-59M182" target="_blank">RP1-59M182</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341556;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000250018;SAVANT_GENE=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPH1" target="_blank">TPH1</a>;SAVANT_INFO=-/23.8kb/10/5.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1160+41G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPH1+c.1160+41G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18044304">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:3954,352,0:127	1|1:0,128:128:99:4526,385,0:127	1|1:0,129:129:99:4528,387,0:127
11	18047255	.	G	T	3208.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=350;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1799913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799913" target="_blank">rs1799913</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=48645;ExAC.Info.AN=126704;ExAC.Info.AF=0.384;ExAC.Info.AC_Het=29179;ExAC.Info.AC_Hom=9704;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.804-7C>A;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPH1" target="_blank">TPH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.804C>A;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPH1" target="_blank">TPH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000250018;SAVANT_GENE=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPH1" target="_blank">TPH1</a>;SAVANT_INFO=-/23.8kb/10/5.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.804-7C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPH1+c.804-7C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18047255">View</a>	GT:AD:DP:GQ:PL:TP	0|0:127,0:127:99:0,381,4432:127	0|1:63,60:123:99:1623,0,1933:127	0|0:100,0:100:99:0,301,3601:127
11	18047816	.	G	T	4324.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=602;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1800532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1800532" target="_blank">rs1800532</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Depression|_association_with;hgmd_2014.2.OMIM_ID=191060;hgmd_2014.2.PubMed=10716208;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=10716208" target="_blank">10716208</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.803+221C>A;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPH1" target="_blank">TPH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341556;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000250018;SAVANT_GENE=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPH1" target="_blank">TPH1</a>;SAVANT_INFO=-/23.8kb/10/5.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.803+221C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPH1+c.803+221C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18047816">View</a>	GT:AD:DP:GQ:PL:TP	0|0:202,0:202:99:0,606,7002:127	0|1:104,81:185:99:2181,0,2922:127	0|0:215,0:215:99:0,646,7305:127
11	18054777	.	A	G	1678.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10832874;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10832874" target="_blank">rs10832874</a>;ExAC.Info.AC=47780;ExAC.Info.AN=126614;ExAC.Info.AF=0.377;ExAC.Info.AC_Het=28152;ExAC.Info.AC_Hom=9578;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.402+44T>C;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPH1" target="_blank">TPH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.403A>G;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPH1" target="_blank">TPH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341556;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.403A>G;snpeff.Amino_Acid_length=466;snpeff.Gene_Name=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPH1" target="_blank">TPH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000341556;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000250018;SAVANT_GENE=TPH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPH1" target="_blank">TPH1</a>;SAVANT_INFO=-/23.8kb/10/5.3kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.402+44T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TPH1+c.402+44T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18054777">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1703:83	0|1:20,26:46:99:858,0,542:83	0|0:28,0:28:84:0,84,982:83
11	18063977	.	A	T	7002.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs623580;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=623580" target="_blank">rs623580</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=623580" target="_blank">rs623580</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18063977">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,35:68:99:855,0,834:127	1|1:2,81:83:99:2645,200,0:127	0|0:54,0:54:99:0,162,1850:127
11	18105302	.	T	C	32870.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=534;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs3741199;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3741199" target="_blank">rs3741199</a>;ExAC.Info.AC=46769;ExAC.Info.AN=126622;ExAC.Info.AF=0.369;ExAC.Info.AC_Het=27988;ExAC.Info.AC_Hom=9111;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1052-27A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SAAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAAL1" target="_blank">SAAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529318;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524803;SAVANT_GENE=SAAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAAL1" target="_blank">SAAL1</a>;SAVANT_INFO=-/25.8kb/12/1.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1043-24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAAL1+c.1043-24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18105302">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,162:162:99:5379,486,0:127	1|0:103,101:204:99:2794,0,3039:127	1|1:0,168:168:99:5752,505,0:127
11	18108492	.	T	C	16128.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=795;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12363226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12363226" target="_blank">rs12363226</a>;ExAC.Info.AC=26664;ExAC.Info.AN=126702;ExAC.Info.AF=0.210;ExAC.Info.AC_Het=20456;ExAC.Info.AC_Hom=3098;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr321Thr/c.963A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SAAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAAL1" target="_blank">SAAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529318;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524803;SAVANT_GENE=SAAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAAL1" target="_blank">SAAL1</a>;SAVANT_INFO=-/25.8kb/12/1.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.963A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAAL1+c.963A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18108492">View</a>	GT:AD:DP:GQ:PL:TP	0|1:120,126:246:99:3525,0,4526:127	1|0:158,142:300:99:3857,0,4772:127	0|0:249,0:249:99:0,766,9759:127
11	18108512	.	T	C	15876.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=749;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35525096;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35525096" target="_blank">rs35525096</a>;ExAC.Info.AC=10675;ExAC.Info.AN=126704;ExAC.Info.AF=0.084;ExAC.Info.AC_Het=9647;ExAC.Info.AC_Hom=511;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile315Val/c.943A>G;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SAAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAAL1" target="_blank">SAAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529318;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524803;SAVANT_GENE=SAAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAAL1" target="_blank">SAAL1</a>;SAVANT_INFO=-/25.8kb/12/1.6kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.943A>G_p.Ile315Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAAL1+c.943A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18108512">View</a>	GT:AD:DP:GQ:PL:TP	1|0:124,117:241:99:3573,0,4647:127	0|0:277,1:278:99:0,806,10903:127	1|0:115,115:230:99:3398,0,3231:127
11	18127558	.	C	CCGG	6208.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs148650821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=148650821" target="_blank">rs148650821</a>;snpeff.Effect=inframe_insertion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=ccg/ccgCCG;snpeff.Amino_Acid_Change=p.Pro10_Gly11insProPro/c.30_31insCCG;snpeff.Amino_Acid_length=476;snpeff.Gene_Name=SAAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAAL1" target="_blank">SAAL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529318;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000524803;SAVANT_GENE=SAAL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAAL1" target="_blank">SAAL1</a>;SAVANT_INFO=-/25.8kb/12/1.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.28_30dupCCG_p.Pro10dup;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAAL1+c.28_30dupCCG+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18127558">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,27:48:99:1070,0,809:127	1|0:22,33:55:99:1309,0,861:127	0|0:47,0:47:99:0,142,2149:127
11	18158993	.	T	C	16158.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12291017;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12291017" target="_blank">rs12291017</a>;ExAC.Info.AC=21200;ExAC.Info.AN=126704;ExAC.Info.AF=0.167;ExAC.Info.AC_Het=16120;ExAC.Info.AC_Hom=2538;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.244T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys82Arg/c.244T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396275;SAVANT_GENE=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;SAVANT_INFO=+/17.5kb/3/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.244T>C_p.Cys82Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRGPRX3+c.244T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18158993">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,64:144:99:1944,0,2165:127	0|0:162,0:162:99:0,487,5352:127	1|1:0,132:132:99:4549,397,0:127
11	18159254	.	A	G	29048.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=589;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4274188;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4274188" target="_blank">rs4274188</a>;ExAC.Info.AC=97473;ExAC.Info.AN=126704;ExAC.Info.AF=0.769;ExAC.Info.AC_Het=21745;ExAC.Info.AC_Hom=37864;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.505A>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Gat;snpeff.Amino_Acid_Change=p.Asn169Asp/c.505A>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396275;SAVANT_GENE=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;SAVANT_INFO=+/17.5kb/3/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.505A>G_p.Asn169Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRGPRX3+c.505A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18159254">View</a>	GT:AD:DP:GQ:PL:TP	1|0:77,107:184:99:3084,0,1930:127	0|1:110,99:209:99:3036,0,2946:127	1|1:0,196:196:99:6938,588,0:127
11	18159455	.	T	C	5388.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=224;MQ=69.90;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72863191;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72863191" target="_blank">rs72863191</a>;ExAC.Info.AC=9455;ExAC.Info.AN=126704;ExAC.Info.AF=0.075;ExAC.Info.AC_Het=8681;ExAC.Info.AC_Hom=387;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.706T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp236Arg/c.706T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396275;SAVANT_GENE=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;SAVANT_INFO=+/17.5kb/3/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.706T>C_p.Trp236Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRGPRX3+c.706T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18159455">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,37:71:99:1065,0,1003:127	0|0:81,0:81:99:0,244,2938:127	1|0:42,30:72:99:876,0,1201:127
11	18159668	.	T	C	2464.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=182;MQ=69.75;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs79562368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79562368" target="_blank">rs79562368</a>;ExAC.Info.AC=7272;ExAC.Info.AN=126698;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=6792;ExAC.Info.AC_Hom=236;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.919T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp307Arg/c.919T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396275;SAVANT_GENE=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;SAVANT_INFO=+/17.5kb/3/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.919T>C_p.Trp307Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRGPRX3+c.919T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18159668">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,202,3741:127	0|0:69,0:69:99:0,220,4022:127	0|1:17,31:48:99:1251,0,919:127
11	18159669	.	G	A	2464.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=188;MQ=69.75;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs78408237;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78408237" target="_blank">rs78408237</a>;ExAC.Info.AC=7251;ExAC.Info.AN=126696;ExAC.Info.AF=0.057;ExAC.Info.AC_Het=6774;ExAC.Info.AC_Hom=234;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.920G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=tGg/tAg;snpeff.Amino_Acid_Change=p.Trp307*/c.920G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396275;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396275;SAVANT_GENE=MRGPRX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX3" target="_blank">MRGPRX3</a>;SAVANT_INFO=+/17.5kb/3/1.6kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.920G>A_p.Trp307X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRGPRX3+c.920G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18159669">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,202,3741:127	0|0:73,0:73:99:0,220,4022:127	0|1:17,31:48:99:1251,0,919:127
11	18194827	.	C	G	4190.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=639;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2468774;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2468774" target="_blank">rs2468774</a>;ExAC.Info.AC=38129;ExAC.Info.AN=126680;ExAC.Info.AF=0.301;ExAC.Info.AC_Het=25985;ExAC.Info.AC_Hom=5857;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.476+15615G>C;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.24C>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttC/ttG;snpeff.Amino_Acid_Change=p.Phe8Leu/c.24C>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314254:ENST00000527671;SAVANT_GENE=MRGPRX4:RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX4:RP11-113D66" target="_blank">MRGPRX4:RP11-113D66</a>;SAVANT_INFO=+/1.4kb/1/1.4kb:-/49.3kb/2/1.0kb;SAVANT_LOC=Ex1:In1/2;SAVANT_HGVS=c.24C>G_p.Phe8Leu:c.476+15615G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRGPRX4:RP11-113D66+c.24C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18194827">View</a>	GT:AD:DP:GQ:PL:TP	0|0:204,0:204:99:0,613,6869:127	0|0:264,0:264:99:0,793,8690:127	0|1:93,78:171:99:2114,0,2722:127
11	18194878	.	T	G	3604.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=536;MQ=69.95;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2445180;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2445180" target="_blank">rs2445180</a>;ExAC.Info.AC=38233;ExAC.Info.AN=126704;ExAC.Info.AF=0.302;ExAC.Info.AC_Het=26308;ExAC.Info.AC_Hom=5955;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.476+15564A>C;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.75T>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[glycosylation_site:N-linked__GlcNAc..._];snpeff.Effect_Impact=MODERATE;snpeff.Amino_Acid_Change=c.75T>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aaT/aaG;snpeff.Amino_Acid_Change=p.Asn25Lys/c.75T>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314254:ENST00000527671;SAVANT_GENE=MRGPRX4:RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX4:RP11-113D66" target="_blank">MRGPRX4:RP11-113D66</a>;SAVANT_INFO=+/1.4kb/1/1.4kb:-/49.3kb/2/1.0kb;SAVANT_LOC=Ex1:In1/2;SAVANT_HGVS=c.75T>G_p.Asn25Lys:c.476+15564A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRGPRX4:RP11-113D66+c.75T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18194878">View</a>	GT:AD:DP:GQ:PL:TP	0|0:180,0:180:99:0,541,5839:127	0|0:204,1:205:99:0,606,7104:127	0|1:90,61:151:99:1821,0,2536:127
11	18195051	.	T	C	39482.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2445179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2445179" target="_blank">rs2445179</a>;ExAC.Info.AC=125511;ExAC.Info.AN=126704;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=1073;ExAC.Info.AC_Hom=62217;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.476+15391A>G;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.248T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTg/tCg;snpeff.Amino_Acid_Change=p.Leu83Ser/c.248T>C;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314254:ENST00000527671;SAVANT_GENE=MRGPRX4:RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX4:RP11-113D66" target="_blank">MRGPRX4:RP11-113D66</a>;SAVANT_INFO=+/1.4kb/1/1.4kb:-/49.3kb/2/1.0kb;SAVANT_LOC=Ex1:In1/2;SAVANT_HGVS=c.248T>C_p.Leu83Ser:c.476+15391A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRGPRX4:RP11-113D66+c.248T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18195051">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:5303,456,0:127	1|1:0,183:183:99:6249,549,0:127	1|1:0,137:137:99:4713,412,0:127
11	18195348	.	C	T	18123.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=487;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11024532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11024532" target="_blank">rs11024532</a>;ExAC.Info.AC=29217;ExAC.Info.AN=126704;ExAC.Info.AF=0.231;ExAC.Info.AC_Het=21310;ExAC.Info.AC_Hom=3953;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.476+15094G>A;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.545C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala182Val/c.545C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314254;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314254:ENST00000527671;SAVANT_GENE=MRGPRX4:RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX4:RP11-113D66" target="_blank">MRGPRX4:RP11-113D66</a>;SAVANT_INFO=+/1.4kb/1/1.4kb:-/49.3kb/2/1.0kb;SAVANT_LOC=Ex1:In1/2;SAVANT_HGVS=c.545C>T_p.Ala182Val:c.476+15094G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRGPRX4:RP11-113D66+c.545C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18195348">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,62:134:99:1730,0,2052:127	1|1:1,184:185:99:6110,516,0:127	0|0:168,0:168:99:0,504,5637:127
11	18210434	.	A	G	5074.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72866733;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72866733" target="_blank">rs72866733</a>;ExAC.Info.AC=4179;ExAC.Info.AN=85962;ExAC.Info.AF=0.049;ExAC.Info.AC_Het=1465;ExAC.Info.AC_Hom=149;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.476+8T>C;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=downstream_gene_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Gene_Name=AC090099.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413843;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000527671;SAVANT_GENE=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;SAVANT_INFO=-/49.3kb/2/1.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.476+8T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-113D66+c.476+8T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18210434">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,36:85:99:980,0,1219:127	0|0:76,0:76:99:0,228,2661:127	1|0:46,31:77:99:919,0,1177:127
11	18210480	.	T	C	18250.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2445150;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2445150" target="_blank">rs2445150</a>;ExAC.Info.AC=102784;ExAC.Info.AN=106566;ExAC.Info.AF=0.965;ExAC.Info.AC_Het=652;ExAC.Info.AC_Hom=15697;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.558A>G;snpeff.Gene_Name=AC090099.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0900992" target="_blank">AC0900992</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413843;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro146Pro/c.438A>G;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0900992" target="_blank">AC0900992</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000527671;SAVANT_GENE=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;SAVANT_INFO=-/49.3kb/2/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.438A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-113D66+c.438A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18210480">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2434,225,0:127	1|1:0,78:78:99:2670,232,0:127	1|1:0,70:70:99:2344,210,0:127
11	18210814	.	G	A	6703.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7936382;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7936382" target="_blank">rs7936382</a>;ExAC.Info.AC=29911;ExAC.Info.AN=126704;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=21953;ExAC.Info.AC_Hom=3803;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.228C>T;snpeff.Gene_Name=AC090099.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0900992" target="_blank">AC0900992</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413843;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.268G>A;snpeff.Gene_Name=GLTPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0900992" target="_blank">AC0900992</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000528859;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala35Val/c.104C>T;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0900992" target="_blank">AC0900992</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000527671;SAVANT_GENE=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;SAVANT_INFO=-/49.3kb/2/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.104C>T_p.Ala35Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-113D66+c.104C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18210814">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,22:42:99:864,0,772:127	1|1:0,48:48:99:2199,147,0:127	0|0:47,0:47:99:0,141,2100:127
11	18210815	.	C	A	6703.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7937250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7937250" target="_blank">rs7937250</a>;ExAC.Info.AC=29915;ExAC.Info.AN=126704;ExAC.Info.AF=0.236;ExAC.Info.AC_Het=21949;ExAC.Info.AC_Hom=3802;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.227G>T;snpeff.Gene_Name=AC090099.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0900992" target="_blank">AC0900992</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413843;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.269C>A;snpeff.Gene_Name=GLTPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0900992" target="_blank">AC0900992</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000528859;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Tcc;snpeff.Amino_Acid_Change=p.Ala35Ser/c.103G>T;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0900992" target="_blank">AC0900992</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000527671;SAVANT_GENE=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;SAVANT_INFO=-/49.3kb/2/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.103G>T_p.Ala35Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-113D66+c.103G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18210815">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,22:42:99:864,0,772:127	1|1:0,48:48:99:2199,147,0:127	0|0:46,0:46:99:0,141,2100:127
11	18210849	.	C	T	4216.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6486412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6486412" target="_blank">rs6486412</a>;ExAC.Info.AC=31135;ExAC.Info.AN=126702;ExAC.Info.AF=0.246;ExAC.Info.AC_Het=22517;ExAC.Info.AC_Hom=4220;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.193G>A;snpeff.Gene_Name=AC090099.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0900992" target="_blank">AC0900992</a>;snpeff.Transcript_BioType=pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000413843;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.303C>T;snpeff.Gene_Name=GLTPP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0900992" target="_blank">AC0900992</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000528859;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgA;snpeff.Amino_Acid_Change=p.Arg23Arg/c.69G>A;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0900992" target="_blank">AC0900992</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527671;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000527671;SAVANT_GENE=RP11-113D6.6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D66" target="_blank">RP11-113D66</a>;SAVANT_INFO=-/49.3kb/2/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.69G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-113D66+c.69G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18210849">View</a>	GT:AD:DP:GQ:PL:TP	0|1:20,23:43:99:590,0,585:119	1|1:0,41:41:99:1480,123,0:119	0|0:41,0:41:99:0,123,1590:119
11	18231289	.	C	A	26905.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=439;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4757627;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4757627" target="_blank">rs4757627</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=53115;ExAC.Info.AN=126662;ExAC.Info.AF=0.419;ExAC.Info.AC_Het=27339;ExAC.Info.AC_Hom=12638;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttC/ttA;snpeff.Amino_Acid_Change=p.Phe25Leu/c.75C>A;snpeff.Amino_Acid_length=154;snpeff.Gene_Name=RP11-113D6.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D610" target="_blank">RP11-113D610</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527059;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000527059;SAVANT_GENE=RP11-113D6.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-113D610" target="_blank">RP11-113D610</a>;SAVANT_INFO=+/5.4kb/2/2.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.75C>A_p.Phe25Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-113D610+c.75C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18231289">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,137:137:99:4266,411,0:127	1|1:0,167:167:99:5516,502,0:127	1|0:73,62:135:99:1618,0,2078:127
11	18253104	.	C	T	3529.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72881547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72881547" target="_blank">rs72881547</a>;ExAC.Info.AC=230;ExAC.Info.AN=126704;ExAC.Info.AF=1.815e-03;ExAC.Info.AC_Het=228;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.609G>A;snpeff.Gene_Name=SAA2-SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000524555;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg113Gln/c.338G>A;snpeff.Amino_Acid_length=130;snpeff.Gene_Name=SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278222;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278222;SAVANT_GENE=SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA4" target="_blank">SAA4</a>;SAVANT_INFO=-/5.5kb/4/0.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.338G>A_p.Arg113Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAA4+c.338G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18253104">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,17:41:99:525,0,818:127	1|0:34,24:58:99:775,0,1108:127	0|0:48,0:48:99:0,144,1770:127
11	18253176	.	C	T	22403.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=289;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2460827;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2460827" target="_blank">rs2460827</a>;ExAC.Info.AC=120015;ExAC.Info.AN=126700;ExAC.Info.AF=0.947;ExAC.Info.AC_Het=5691;ExAC.Info.AC_Hom=57141;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.537G>A;snpeff.Gene_Name=SAA2-SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000524555;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tAc;snpeff.Amino_Acid_Change=p.Cys89Tyr/c.266G>A;snpeff.Amino_Acid_length=130;snpeff.Gene_Name=SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278222;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278222;SAVANT_GENE=SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA4" target="_blank">SAA4</a>;SAVANT_INFO=-/5.5kb/4/0.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.266G>A_p.Cys89Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAA4+c.266G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18253176">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:2984,294,0:127	1|1:0,108:108:99:3614,325,0:127	1|1:0,83:83:99:2700,249,0:127
11	18267027	.	C	T	36799.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=440;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2468844;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2468844" target="_blank">rs2468844</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Carotid_intima_media_thickness|_association_with;hgmd_2014.2.OMIM_ID=104751;hgmd_2014.2.PubMed=21103356;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21103356" target="_blank">21103356</a>;ExAC.Info.AC=105602;ExAC.Info.AN=126704;ExAC.Info.AF=0.833;ExAC.Info.AC_Het=16616;ExAC.Info.AC_Hom=44488;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.267+430G>A;snpeff.Gene_Name=SAA2-SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000524555;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cAt;snpeff.Amino_Acid_Change=p.Arg89His/c.266G>A;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526900;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526900;SAVANT_GENE=SAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2" target="_blank">SAA2</a>;SAVANT_INFO=-/3.4kb/4/0.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.266G>A_p.Arg89His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAA2+c.266G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18267027">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,149:149:99:4828,448,0:127	1|1:0,160:160:99:5654,481,0:127	1|1:0,131:131:99:4577,394,0:127
11	18267463	.	A	G	11539.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=446;MQ=49.09;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs74872559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74872559" target="_blank">rs74872559</a>;ExAC.Info.AC=47903;ExAC.Info.AN=126696;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=46291;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.261T>C;snpeff.Gene_Name=SAA2-SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000524555;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val75Ala/c.224T>C;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526900;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526900;SAVANT_GENE=SAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2" target="_blank">SAA2</a>;SAVANT_INFO=-/3.4kb/4/0.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.224T>C_p.Val75Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAA2+c.224T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18267463">View</a>	GT:AD:DP:GQ:PL:TP	0/1:121,27:148:99:743,0,5213:127	0/1:116,43:159:99:1339,0,4836:127	0/1:85,54:139:99:1929,0,3405:127
11	18267471	.	A	G	16703.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=460;MQ=48.47;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1136766;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1136766" target="_blank">rs1136766</a>;ExAC.Info.AC=60654;ExAC.Info.AN=126696;ExAC.Info.AF=0.479;ExAC.Info.AC_Het=60278;ExAC.Info.AC_Hom=59;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.253T>C;snpeff.Gene_Name=SAA2-SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000524555;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala72Ala/c.216T>C;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526900;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526900;SAVANT_GENE=SAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2" target="_blank">SAA2</a>;SAVANT_INFO=-/3.4kb/4/0.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.216T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAA2+c.216T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18267471">View</a>	GT:AD:DP:GQ:PL:TP	0/1:71,82:153:99:2178,0,2086:127	0/1:77,84:161:99:2286,0,2438:127	0/1:59,87:146:99:2441,0,2213:127
11	18267478	.	G	A	11685.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=475;MQ=48.02;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs79620496;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79620496" target="_blank">rs79620496</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=42261;ExAC.Info.AN=126698;ExAC.Info.AF=0.334;ExAC.Info.AC_Het=40334;ExAC.Info.AC_Hom=1;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.246C>T;snpeff.Gene_Name=SAA2-SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000524555;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala70Val/c.209C>T;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2-SAA4" target="_blank">SAA2-SAA4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526900;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526900;SAVANT_GENE=SAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2" target="_blank">SAA2</a>;SAVANT_INFO=-/3.4kb/4/0.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.209C>T_p.Ala70Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAA2+c.209C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18267478">View</a>	GT:AD:DP:GQ:PL:TP	0/1:128,29:157:99:766,0,5418:127	0/1:124,44:168:99:1380,0,5098:127	0/1:94,56:150:99:1948,0,3658:127
11	18267600	.	A	C	1405.24	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=165;MQ=48.18;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs200930008;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=200930008" target="_blank">rs200930008</a>;ExAC.Info.AC=31847;ExAC.Info.AN=126424;ExAC.Info.AF=0.252;ExAC.Info.AC_Het=28898;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-5T>G;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2" target="_blank">SAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526900;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.129-5T>G;snpeff.Gene_Name=SAA2-SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2" target="_blank">SAA2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000524555;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.92T>G;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2" target="_blank">SAA2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526900;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.129T>G;snpeff.Gene_Name=SAA2-SAA4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2" target="_blank">SAA2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000524555;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526900;SAVANT_GENE=SAA2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA2" target="_blank">SAA2</a>;SAVANT_INFO=-/3.4kb/4/0.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-5T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAA2+c.92-5T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18267600">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,5:56:4:4,0,1534:5	0/1:49,10:59:99:164,0,1489:5	0/1:35,15:50:99:358,0,1024:5
11	18290737	.	T	G	4016.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=77;MQ=64.76;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs145097411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=145097411" target="_blank">rs145097411</a>;ExAC.Info.AC=61258;ExAC.Info.AN=126456;ExAC.Info.AF=0.484;ExAC.Info.AC_Het=37585;ExAC.Info.AC_Hom=8980;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.92-5T>G;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA1" target="_blank">SAA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356524;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.92T>G;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA1" target="_blank">SAA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356524;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000405158;SAVANT_GENE=SAA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA1" target="_blank">SAA1</a>;SAVANT_INFO=+/3.7kb/4/0.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.92-5T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAA1+c.92-5T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18290737">View</a>	GT:AD:DP:GQ:PL:TP	1|0:2,13:15:28:363,0,28:28	0|1:7,27:34:99:751,0,149:28	1|1:0,28:28:84:896,84,0:28
11	18290859	.	C	T	3976.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=60;MQ=60.18;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1136743;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1136743" target="_blank">rs1136743</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=60345;ExAC.Info.AN=123898;ExAC.Info.AF=0.487;ExAC.Info.AC_Het=23156;ExAC.Info.AC_Hom=7234;Clinvar.ClinicalSignificance=Pathogenic;Clinvar.RCVaccession=RCV000019736;Clinvar.PhenotypeIDs=-;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gTc;snpeff.Amino_Acid_Change=p.Ala70Val/c.209C>T;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA1" target="_blank">SAA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356524;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000405158;SAVANT_GENE=SAA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA1" target="_blank">SAA1</a>;SAVANT_INFO=+/3.7kb/4/0.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.209C>T_p.Ala70Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAA1+c.209C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18290859">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019736" target="_blank">Pathogenic</a> 	GT:AD:DP:GQ:PL:TP	1|0:9,8:17:99:291,0,354:66	0|1:6,15:21:99:578,0,202:66	1|1:0,22:22:66:956,66,0:66
11	18290874	.	T	C	3434.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=51;MQ=57.75;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1136747;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1136747" target="_blank">rs1136747</a>;ExAC.Info.AC=65863;ExAC.Info.AN=119264;ExAC.Info.AF=0.552;ExAC.Info.AC_Het=16673;ExAC.Info.AC_Hom=5559;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val75Ala/c.224T>C;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA1" target="_blank">SAA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356524;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000405158;SAVANT_GENE=SAA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA1" target="_blank">SAA1</a>;SAVANT_INFO=+/3.7kb/4/0.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.224T>C_p.Val75Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAA1+c.224T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18290874">View</a>	GT:AD:DP:GQ:PL:TP	1|0:9,6:15:99:225,0,360:54	0|1:5,14:19:99:537,0,168:54	1|1:0,17:17:54:804,54,0:54
11	18290880	.	C	G	4240.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=46;MQ=56.54;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28720026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28720026" target="_blank">rs28720026</a>;ExAC.Info.AC=112714;ExAC.Info.AN=116248;ExAC.Info.AF=0.970;ExAC.Info.AC_Het=639;ExAC.Info.AC_Hom=21302;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.230C>G;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA1" target="_blank">SAA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356524;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aGc;snpeff.Amino_Acid_Change=p.Thr77Ser/c.230C>G;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=SAA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA1" target="_blank">SAA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356524;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000405158;SAVANT_GENE=SAA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAA1" target="_blank">SAA1</a>;SAVANT_INFO=+/3.7kb/4/0.7kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.230C>G_p.Thr77Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SAA1+c.230C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18290880">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,14:14:42:600,42,0:44	1|1:0,16:16:48:706,48,0:44	1|1:0,16:16:48:720,48,0:44
11	18291528	.	G	T	21640.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=556;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs7128060;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7128060" target="_blank">rs7128060</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7128060" target="_blank">rs7128060</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18291528">View</a>	GT:AD:DP:GQ:PL:TP	1|0:96,64:160:99:1655,0,2750:127	0|1:135,103:238:99:2636,0,3914:127	1|1:0,158:158:99:5267,475,0:127
11	18305333	.	T	C	17976.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=512;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_5|_614074_(3);dbSNP139.ID=rs2049129;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2049129" target="_blank">rs2049129</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=19176;ExAC.Info.AN=126704;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=15693;ExAC.Info.AC_Hom=1739;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3058+9A>G;snpeff.Amino_Acid_length=1129;snpeff.Gene_Name=HPS5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS5" target="_blank">HPS5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349215;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000349215;SAVANT_GENE=HPS5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS5" target="_blank">HPS5</a>;SAVANT_INFO=-/43.1kb/23/4.5kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.3058+9A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS5+c.3058+9A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18305333">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,58:130:99:1703,0,1997:127	0|0:211,0:211:99:0,633,6862:127	1|1:0,171:171:99:6092,514,0:127
11	18312953	.	G	A	4210.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_5|_614074_(3);dbSNP139.ID=rs4757638;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4757638" target="_blank">rs4757638</a>;ExAC.Info.AC=71630;ExAC.Info.AN=125432;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=21716;ExAC.Info.AC_Hom=15544;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2440+36C>T;snpeff.Amino_Acid_length=1129;snpeff.Gene_Name=HPS5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS5" target="_blank">HPS5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349215;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000349215;SAVANT_GENE=HPS5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS5" target="_blank">HPS5</a>;SAVANT_INFO=-/43.1kb/23/4.5kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2440+36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS5+c.2440+36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18312953">View</a>	GT:AD:DP:GQ:PL:TP	0|0:102,0:102:99:0,306,3585:127	0|1:64,66:130:99:2124,0,1887:127	0|0:113,0:113:99:0,339,4013:127
11	18317699	.	C	T	6284.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=606;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_5|_614074_(3);dbSNP139.ID=rs2305565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2305565" target="_blank">rs2305565</a>;ExAC.Info.AC=74962;ExAC.Info.AN=126688;ExAC.Info.AF=0.592;ExAC.Info.AC_Het=29484;ExAC.Info.AC_Hom=22342;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1511-30G>A;snpeff.Amino_Acid_length=1129;snpeff.Gene_Name=HPS5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS5" target="_blank">HPS5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349215;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000349215;SAVANT_GENE=HPS5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS5" target="_blank">HPS5</a>;SAVANT_INFO=-/43.1kb/23/4.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1511-30G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS5+c.1511-30G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18317699">View</a>	GT:AD:DP:GQ:PL:TP	0|0:181,0:181:99:0,544,6769:127	0|1:112,109:221:99:3161,0,3532:127	0|0:204,0:204:99:0,613,7811:127
11	18327684	.	G	T	8996.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=978;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hermansky-Pudlak_syndrome_5|_614074_(3);dbSNP139.ID=rs1140047;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1140047" target="_blank">rs1140047</a>;ExAC.Info.AC=92436;ExAC.Info.AN=126704;ExAC.Info.AF=0.730;ExAC.Info.AC_Het=24003;ExAC.Info.AC_Hom=34210;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctA;snpeff.Amino_Acid_Change=p.Leu274Leu/c.822C>A;snpeff.Amino_Acid_length=1129;snpeff.Gene_Name=HPS5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS5" target="_blank">HPS5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349215;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.822C>A;snpeff.Amino_Acid_length=1129;snpeff.Gene_Name=HPS5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS5" target="_blank">HPS5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000349215;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000349215;SAVANT_GENE=HPS5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPS5" target="_blank">HPS5</a>;SAVANT_INFO=-/43.1kb/23/4.5kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.822C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HPS5+c.822C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18327684">View</a>	GT:AD:DP:GQ:PL:TP	0|0:327,0:327:99:0,982,11062:127	0|1:155,170:325:99:4517,0,4460:127	0|0:326,0:326:99:0,979,11123:127
11	18357270	.	A	G	3935.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=439;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4150581;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4150581" target="_blank">rs4150581</a>;ExAC.Info.AC=59415;ExAC.Info.AN=126648;ExAC.Info.AF=0.469;ExAC.Info.AC_Het=29322;ExAC.Info.AC_Hom=14605;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.155-31A>G;snpeff.Amino_Acid_length=548;snpeff.Gene_Name=GTF2H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTF2H1" target="_blank">GTF2H1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453096;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265963;SAVANT_GENE=GTF2H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTF2H1" target="_blank">GTF2H1</a>;SAVANT_INFO=+/44.5kb/15/3.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.155-31A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GTF2H1+c.155-31A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18357270">View</a>	GT:AD:DP:GQ:PL:TP	0|0:151,0:151:99:0,454,5225:127	0|1:90,74:164:99:1986,0,2658:127	0|0:124,0:124:99:0,373,4503:127
11	18379446	.	CA	C	92.71	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=186;MQ=70.04;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs202243676;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202243676" target="_blank">rs202243676</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1261-52delA;snpeff.Amino_Acid_length=548;snpeff.Gene_Name=GTF2H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTF2H1" target="_blank">GTF2H1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453096;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000265963;SAVANT_GENE=GTF2H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTF2H1" target="_blank">GTF2H1</a>;SAVANT_INFO=+/44.5kb/15/3.0kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1261-41delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=GTF2H1+c.1261-41delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18379446">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,12:66:59:59,0,1205:9	1|0:76,8:84:0:0,48,1775:9	0|0:34,2:36:61:0,61,827:9
11	18379629	.	C	A	5540.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=498;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4150661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4150661" target="_blank">rs4150661</a>;ExAC.Info.AC=87417;ExAC.Info.AN=126668;ExAC.Info.AF=0.690;ExAC.Info.AC_Het=25222;ExAC.Info.AC_Hom=30083;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1351+40C>A;snpeff.Amino_Acid_length=548;snpeff.Gene_Name=GTF2H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTF2H1" target="_blank">GTF2H1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000453096;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265963;SAVANT_GENE=GTF2H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GTF2H1" target="_blank">GTF2H1</a>;SAVANT_INFO=+/44.5kb/15/3.0kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1351+40C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GTF2H1+c.1351+40C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18379629">View</a>	GT:AD:DP:GQ:PL:TP	0|0:170,0:170:99:0,511,5953:127	0|1:104,99:203:99:2789,0,3143:127	0|0:125,0:125:99:0,376,4673:127
11	18424451	.	C	T	11931.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=313;MQ=69.82;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Glycogen_storage_disease_XI|_612933_(3);dbSNP139.ID=rs5030621;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5030621" target="_blank">rs5030621</a>;ExAC.Info.AC=88493;ExAC.Info.AN=126702;ExAC.Info.AF=0.698;ExAC.Info.AC_Het=25811;ExAC.Info.AC_Hom=31330;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser190Ser/c.570C>T;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=LDHA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHA" target="_blank">LDHA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540430;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540430;SAVANT_GENE=LDHA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHA" target="_blank">LDHA</a>;SAVANT_INFO=+/12.0kb/8/2.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.570C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDHA+c.570C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18424451">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,53:94:99:1606,0,1144:127	1|1:0,110:110:99:3828,330,0:127	0|0:109,0:109:99:0,327,3686:127
11	18424590	.	T	A	7747.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Glycogen_storage_disease_XI|_612933_(3);dbSNP139.ID=rs3758680;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758680" target="_blank">rs3758680</a>;ExAC.Info.AC=87994;ExAC.Info.AN=126410;ExAC.Info.AF=0.696;ExAC.Info.AC_Het=25074;ExAC.Info.AC_Hom=30404;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.679+30T>A;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=LDHA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHA" target="_blank">LDHA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540430;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540430;SAVANT_GENE=LDHA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHA" target="_blank">LDHA</a>;SAVANT_INFO=+/12.0kb/8/2.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.679+30T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDHA+c.679+30T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18424590">View</a>	GT:AD:DP:GQ:PL:TP	0|1:23,40:63:99:1176,0,563:127	1|1:0,75:75:99:2524,225,0:127	0|0:52,0:52:99:0,156,1939:127
11	18426796	.	T	G	7569.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;OMIM_phenotypes.name=Glycogen_storage_disease_XI|_612933_(3);dbSNP139.ID=rs6486425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6486425" target="_blank">rs6486425</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.798-200T>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=LDHA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHA" target="_blank">LDHA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540430;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000540430;SAVANT_GENE=LDHA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHA" target="_blank">LDHA</a>;SAVANT_INFO=+/12.0kb/8/2.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.798-200T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDHA+c.798-200T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18426796">View</a>	GT:AD:DP:GQ:PL:TP	0|1:36,37:73:99:994,0,919:127	1|1:0,75:75:99:2589,225,0:127	0|0:55,0:55:99:0,165,1751:127
11	18428637	.	A	ATTTT	23693.25	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=625;MQ=70.21;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=./1;OMIM_phenotypes.name=Glycogen_storage_disease_XI|_612933_(3);dbSNP139.ID=rs139850943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139850943" target="_blank">rs139850943</a>;ExAC.Info.AC=41047;ExAC.Info.AN=123598;ExAC.Info.AF=0.332;ExAC.Info.AC_Het=42425;ExAC.Info.AC_Hom=437;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.922-26_922-25insTTTT;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=LDHA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHA" target="_blank">LDHA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540430;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000540430;SAVANT_GENE=LDHA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHA" target="_blank">LDHA</a>;SAVANT_INFO=+/12.0kb/8/2.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.922-18_922-15dupTTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDHA+c.922-18_922-15dupTTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18428637">View</a>	GT:AD:DP:GQ:PL	0/1:100,60:187:99:3013,0,3823	./1:0,144:205:99:8759,1450,758	0/0:233,0:233:99:0,678,10108
11	18428637	.	A	ATTT	23693.25	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=625;MQ=70.21;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./0;NA12892_GT=0/0;NA12891_GT=./1;OMIM_phenotypes.name=Glycogen_storage_disease_XI|_612933_(3);dbSNP139.ID=rs113340412;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=113340412" target="_blank">rs113340412</a>;ExAC.Info.AC=30486;ExAC.Info.AN=123598;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=42425;ExAC.Info.AC_Hom=437;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.922-26_922-25insTTT;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=LDHA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHA" target="_blank">LDHA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000540430;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000540430;SAVANT_GENE=LDHA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHA" target="_blank">LDHA</a>;SAVANT_INFO=+/12.0kb/8/2.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.922-17_922-15dupTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDHA+c.922-17_922-15dupTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18428637">View</a>	GT:AD:DP:GQ:PL	./0:100,27:187:99:3013,717,4445	./1:0,61:205:99:8759,3192,2513	0/0:233,0:233:99:0,678,9850
11	18467821	.	T	C	42275.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2658565;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2658565" target="_blank">rs2658565</a>;ExAC.Info.AC=126662;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=42;ExAC.Info.AC_Hom=63306;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu259Leu/c.775T>C;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=LDHC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHC" target="_blank">LDHC</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000541669;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000541669;SAVANT_GENE=LDHC;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHC" target="_blank">LDHC</a>;SAVANT_INFO=+/39.8kb/8/2.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.775T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDHC+c.775T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18467821">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,155:155:99:5480,466,0:127	1|1:0,208:208:99:7414,625,0:127	1|1:0,163:163:99:5783,490,0:127
11	18487305	.	C	G	12858.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=584;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs17851143;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17851143" target="_blank">rs17851143</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=14401;ExAC.Info.AN=126704;ExAC.Info.AF=0.114;ExAC.Info.AC_Het=12554;ExAC.Info.AC_Hom=923;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro122Pro/c.366C>G;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=LDHAL6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHAL6A" target="_blank">LDHAL6A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396213;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280706;SAVANT_GENE=LDHAL6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHAL6A" target="_blank">LDHAL6A</a>;SAVANT_INFO=+/23.7kb/7/2.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.366C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDHAL6A+c.366C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18487305">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,97:165:99:2504,0,2073:127	1|0:126,102:228:99:2710,0,3487:127	0|0:191,0:191:99:0,573,6187:127
11	18487404	.	A	G	5261.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=211;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72870279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72870279" target="_blank">rs72870279</a>;ExAC.Info.AC=19487;ExAC.Info.AN=126490;ExAC.Info.AF=0.154;ExAC.Info.AC_Het=15096;ExAC.Info.AC_Hom=1688;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.418+47A>G;snpeff.Amino_Acid_length=332;snpeff.Gene_Name=LDHAL6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHAL6A" target="_blank">LDHAL6A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396213;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280706;SAVANT_GENE=LDHAL6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDHAL6A" target="_blank">LDHAL6A</a>;SAVANT_INFO=+/23.7kb/7/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.418+47A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDHAL6A+c.418+47A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18487404">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,27:56:99:836,0,827:127	1|0:49,43:92:99:1371,0,1383:127	0|0:63,0:63:99:0,190,2346:127
11	18503159	.	C	T	14096.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3);dbSNP139.ID=rs2279900;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2279900" target="_blank">rs2279900</a>;ExAC.Info.AC=27883;ExAC.Info.AN=126670;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=20371;ExAC.Info.AC_Hom=3706;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1083+18G>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1084C>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SB];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1084C>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000251968;SAVANT_GENE=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;SAVANT_INFO=-/46.9kb/10/1.8kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1083+18G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSG101+c.1083+18G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18503159">View</a>	GT:AD:DP:GQ:PL:TP	1|0:58,63:121:99:1734,0,1532:127	0|0:163,0:163:99:0,490,5489:127	1|1:0,134:134:99:4592,402,0:127
11	18505632	.	G	A	16887.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=544;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3);dbSNP139.ID=rs2279902;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2279902" target="_blank">rs2279902</a>;ExAC.Info.AC=19875;ExAC.Info.AN=126692;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=16015;ExAC.Info.AC_Hom=1924;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.641-13C>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000251968;SAVANT_GENE=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;SAVANT_INFO=-/46.9kb/10/1.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.641-13C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSG101+c.641-13C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18505632">View</a>	GT:AD:DP:GQ:PL:TP	1|0:94,80:174:99:2206,0,2799:127	0|0:198,0:198:99:0,591,6780:127	1|1:0,172:172:99:5875,516,0:127
11	18536215	.	G	T	11772.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=379;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Breast_cancer|_somatic|_114480_(3);dbSNP139.ID=rs12574333;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12574333" target="_blank">rs12574333</a>;ExAC.Info.AC=27895;ExAC.Info.AN=126620;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=20003;ExAC.Info.AC_Hom=3632;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.357+10C>A;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358G>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358G>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358G>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358G>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358G>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358G>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358G>T;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000251968;SAVANT_GENE=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;SAVANT_INFO=-/46.9kb/10/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.357+10C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSG101+c.357+10C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18536215">View</a>	GT:AD:DP:GQ:PL:TP	1|0:56,52:108:99:1500,0,1876:127	0|0:154,0:154:99:0,463,6362:127	1|1:0,117:117:99:4248,352,0:127
11	18548546	.	A	G	11376.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2292179;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292179" target="_blank">rs2292179</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=183;snpeff.Amino_Acid_Change=c.-183T>C;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000251968;SAVANT_GENE=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;SAVANT_INFO=-/46.9kb/10/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-183T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSG101+c.-183T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18548546">View</a>	GT:AD:DP:GQ:PL:TP	1|0:49,43:92:99:1267,0,1364:127	0|0:128,0:128:99:0,384,4099:127	1|1:0,108:108:99:3454,324,0:127
11	18548574	.	T	C	16848.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1857908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1857908" target="_blank">rs1857908</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=211;snpeff.Amino_Acid_Change=c.-211A>G;snpeff.Amino_Acid_length=390;snpeff.Gene_Name=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000251968;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000251968;SAVANT_GENE=TSG101;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSG101" target="_blank">TSG101</a>;SAVANT_INFO=-/46.9kb/10/1.8kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-211A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSG101+c.-211A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18548574">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2127,208,0:127	1|1:1,89:90:99:2738,227,0:127	1|1:0,69:69:99:2104,205,0:127
11	18555901	.	C	G	6129.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs56151250;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56151250" target="_blank">rs56151250</a>;ExAC.Info.AC=27094;ExAC.Info.AN=125142;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=19839;ExAC.Info.AC_Hom=3534;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1224C>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtC;snpeff.Amino_Acid_Change=p.Val408Val/c.1224G>C;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396197;SAVANT_GENE=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;SAVANT_INFO=-/57.0kb/12/2.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1224G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UEVLD+c.1224G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18555901">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,20:55:99:601,0,1046:127	0|0:112,0:112:99:0,337,4053:127	1|1:0,55:55:99:2062,165,0:127
11	18555949	.	T	C	8589.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs55999230;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55999230" target="_blank">rs55999230</a>;ExAC.Info.AC=27167;ExAC.Info.AN=125170;ExAC.Info.AF=0.217;ExAC.Info.AC_Het=19876;ExAC.Info.AC_Hom=3631;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1176T>C;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu392Leu/c.1176A>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396197;SAVANT_GENE=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;SAVANT_INFO=-/57.0kb/12/2.0kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1176A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UEVLD+c.1176A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18555949">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,34:84:99:802,0,1305:127	0|0:145,0:145:99:0,436,4659:127	1|1:0,78:78:99:2745,234,0:127
11	18557650	.	C	G	2561.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56104322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56104322" target="_blank">rs56104322</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1124+303G>C;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1125C>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1125C>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396197;SAVANT_GENE=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;SAVANT_INFO=-/57.0kb/12/2.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1124+303G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UEVLD+c.1124+303G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18557650">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,17:51:99:364,0,934:125	1|0:10,22:32:99:658,0,218:125	0|0:42,0:42:99:0,126,1488:125
11	18596966	.	GA	G	103.82	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=149;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.128-8delT;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.128delA;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.128delA;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.128delA;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.128delA;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.128delA;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.128delT;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000396197;SAVANT_GENE=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;SAVANT_INFO=-/57.0kb/12/2.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.128-8delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=UEVLD+c.128-8delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18596966">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,10:48:99:117,0,832:22	1|0:55,6:61:0:0,17,1275:22	0|0:37,3:40:40:0,40,888:22
11	18600322	.	T	G	7523.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs10500835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10500835" target="_blank">rs10500835</a>;ExAC.Info.AC=19660;ExAC.Info.AN=126692;ExAC.Info.AF=0.155;ExAC.Info.AC_Het=15843;ExAC.Info.AC_Hom=1899;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76T>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76T>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76T>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76T>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:UEV];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76T>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Agg/Cgg;snpeff.Amino_Acid_Change=p.Arg26Arg/c.76A>C;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396197;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396197;SAVANT_GENE=UEVLD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UEVLD" target="_blank">UEVLD</a>;SAVANT_INFO=-/57.0kb/12/2.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.76A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UEVLD+c.76A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18600322">View</a>	GT:AD:DP:GQ:PL:TP	1|0:48,31:79:99:815,0,1251:127	0|0:119,2:121:99:0,314,4050:127	1|1:0,66:66:99:2311,198,0:127
11	18631527	.	T	C	6996.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=287;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11024731;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11024731" target="_blank">rs11024731</a>;ExAC.Info.AC=32152;ExAC.Info.AN=126698;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=23096;ExAC.Info.AC_Hom=4511;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1179T>C;snpeff.Gene_Name=SPTY2D1-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1-AS1" target="_blank">SPTY2D1-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000501599;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1965-26A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=SPTY2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1-AS1" target="_blank">SPTY2D1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336349;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1965T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=SPTY2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1-AS1" target="_blank">SPTY2D1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336349;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1965T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=SPTY2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1-AS1" target="_blank">SPTY2D1-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336349;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336349;SAVANT_GENE=SPTY2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1" target="_blank">SPTY2D1</a>;SAVANT_INFO=-/28.1kb/6/5.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1965-26A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTY2D1+c.1965-26A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18631527">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,31:80:99:904,0,1551:127	1|0:61,53:114:99:1579,0,1875:127	0|0:93,0:93:99:0,279,3202:127
11	18632984	.	T	C	5228.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=472;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs10128711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10128711" target="_blank">rs10128711</a>;ExAC.Info.AC=80200;ExAC.Info.AN=126688;ExAC.Info.AF=0.633;ExAC.Info.AC_Het=26315;ExAC.Info.AC_Hom=26767;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1964+40A>G;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=SPTY2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1" target="_blank">SPTY2D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336349;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1965T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=SPTY2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1" target="_blank">SPTY2D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336349;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1965T>C;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=SPTY2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1" target="_blank">SPTY2D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336349;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336349;SAVANT_GENE=SPTY2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1" target="_blank">SPTY2D1</a>;SAVANT_INFO=-/28.1kb/6/5.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1964+40A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTY2D1+c.1964+40A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18632984">View</a>	GT:AD:DP:GQ:PL:TP	0|0:162,0:162:99:0,487,5040:127	0|1:94,86:180:99:2633,0,2714:127	0|0:130,0:130:99:0,391,4339:127
11	18633971	.	G	A	5987.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=585;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11605097;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11605097" target="_blank">rs11605097</a>;ExAC.Info.AC=52601;ExAC.Info.AN=126702;ExAC.Info.AF=0.415;ExAC.Info.AC_Het=29586;ExAC.Info.AC_Hom=11490;snpeff.Effect=sequence_feature[compositionally_biased_region:Poly-Asp];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1776G>A;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=SPTY2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1" target="_blank">SPTY2D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336349;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp592Asp/c.1776C>T;snpeff.Amino_Acid_length=685;snpeff.Gene_Name=SPTY2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1" target="_blank">SPTY2D1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336349;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336349;SAVANT_GENE=SPTY2D1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTY2D1" target="_blank">SPTY2D1</a>;SAVANT_INFO=-/28.1kb/6/5.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1776C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPTY2D1+c.1776C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18633971">View</a>	GT:AD:DP:GQ:PL:TP	0|0:181,0:181:99:0,544,5885:127	0|1:115,107:222:99:3012,0,3197:127	0|0:182,0:182:99:0,546,6234:127
11	18722791	.	A	G	4558.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs733460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=733460" target="_blank">rs733460</a>;ExAC.Info.AC=23971;ExAC.Info.AN=126494;ExAC.Info.AF=0.190;ExAC.Info.AC_Het=18177;ExAC.Info.AC_Hom=2461;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.286+47A>G;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=TMEM86A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM86A" target="_blank">TMEM86A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280734;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287A>G;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=TMEM86A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM86A" target="_blank">TMEM86A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280734;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287A>G;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=TMEM86A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM86A" target="_blank">TMEM86A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000280734;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000280734;SAVANT_GENE=TMEM86A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM86A" target="_blank">TMEM86A</a>;SAVANT_INFO=+/6.0kb/3/3.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.286+47A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM86A+c.286+47A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18722791">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,19:44:99:539,0,655:108	0|0:72,0:72:99:0,216,2514:108	1|1:0,36:36:99:1324,108,0:108
11	18728650	.	T	C	2984.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2289965;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2289965" target="_blank">rs2289965</a>;ExAC.Info.AC=6961;ExAC.Info.AN=27430;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=4128;ExAC.Info.AC_Hom=1068;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.567T>C;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile1131Val/c.3391A>G;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000513874;SAVANT_GENE=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;SAVANT_INFO=-/21.9kb/23/4.3kb;SAVANT_LOC=Ex21;SAVANT_HGVS=c.3391A>G_p.Ile1131Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF22+c.3391A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18728650">View</a>	GT:AD:DP:GQ:PL:TP	0|0:115,0:115:99:0,345,3748:127	0|1:69,57:126:99:1510,0,1816:127	0|0:98,0:98:99:0,294,3314:127
11	18731004	.	C	G	4841.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs72880717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72880717" target="_blank">rs72880717</a>;ExAC.Info.AC=23447;ExAC.Info.AN=125316;ExAC.Info.AF=0.187;ExAC.Info.AC_Het=18536;ExAC.Info.AC_Hom=2453;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.729+2064C>G;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2928C>G;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgC;snpeff.Amino_Acid_Change=p.Arg976Arg/c.2928G>C;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000513874;SAVANT_GENE=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;SAVANT_INFO=-/21.9kb/23/4.3kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2928G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF22+c.2928G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18731004">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,22:52:99:517,0,875:125	0|0:71,0:71:99:0,214,2737:125	1|1:0,42:42:99:1429,126,0:125
11	18732386	.	A	C	7863.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs56412752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56412752" target="_blank">rs56412752</a>;ExAC.Info.AC=35121;ExAC.Info.AN=125306;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=24610;ExAC.Info.AC_Hom=5203;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2399-11T>G;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.729+3446A>C;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000513874;SAVANT_GENE=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;SAVANT_INFO=-/21.9kb/23/4.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2399-11T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF22+c.2399-11T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18732386">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,28:61:99:835,0,901:127	0|0:72,0:72:99:0,217,2674:127	1|1:0,64:64:99:2384,192,0:127
11	18732426	.	T	G	9671.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=108;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4237728;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4237728" target="_blank">rs4237728</a>;ExAC.Info.AC=124955;ExAC.Info.AN=125180;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=206;ExAC.Info.AC_Hom=61603;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2399-51A>C;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.729+3486T>G;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000513874;SAVANT_GENE=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;SAVANT_INFO=-/21.9kb/23/4.3kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.2399-51A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF22+c.2399-51A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18732426">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1521,120,0:83	1|1:0,40:40:99:1566,120,0:83	1|1:0,28:28:84:1127,84,0:83
11	18735396	.	G	T	5224.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs10741752;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10741752" target="_blank">rs10741752</a>;ExAC.Info.AC=92666;ExAC.Info.AN=125340;ExAC.Info.AF=0.739;ExAC.Info.AC_Het=21829;ExAC.Info.AC_Hom=32311;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2095+3C>A;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.729+6456G>T;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2096C>A;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000513874;SAVANT_GENE=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;SAVANT_INFO=-/21.9kb/23/4.3kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2095+3C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF22+c.2095+3C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18735396">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,19:44:99:486,0,809:125	1|1:0,46:46:99:1639,138,0:125	0|0:42,0:42:99:0,126,1703:125
11	18735753	.	G	A	10464.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7106673;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7106673" target="_blank">rs7106673</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1799-58C>T;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.729+6813G>A;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000513874;SAVANT_GENE=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;SAVANT_INFO=-/21.9kb/23/4.3kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1799-58C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF22+c.1799-58C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18735753">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,28:66:99:804,0,1115:127	1|1:0,106:106:99:3717,317,0:127	0|0:78,0:78:99:0,235,2858:127
11	18735947	.	T	C	13010.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=343;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7125943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7125943" target="_blank">rs7125943</a>;ExAC.Info.AC=93173;ExAC.Info.AN=125436;ExAC.Info.AF=0.743;ExAC.Info.AC_Het=23237;ExAC.Info.AC_Hom=34856;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.729+7007T>C;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met559Val/c.1675A>G;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000513874;SAVANT_GENE=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;SAVANT_INFO=-/21.9kb/23/4.3kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1675A>G_p.Met559Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF22+c.1675A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18735947">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,49:97:99:1417,0,1423:127	1|1:0,112:112:99:4105,336,0:127	0|0:134,0:134:99:0,403,4610:127
11	18737095	.	C	T	7540.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=178;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4424652;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4424652" target="_blank">rs4424652</a>;ExAC.Info.AC=92875;ExAC.Info.AN=126184;ExAC.Info.AF=0.736;ExAC.Info.AC_Het=23769;ExAC.Info.AC_Hom=34334;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.729+8155C>T;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1415C>T;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGa/cAa;snpeff.Amino_Acid_Change=p.Arg472Gln/c.1415G>A;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000513874;SAVANT_GENE=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;SAVANT_INFO=-/21.9kb/23/4.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1415G>A_p.Arg472Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF22+c.1415G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18737095">View</a>	GT:AD:DP:GQ:PL:TP	0|1:34,40:74:99:1103,0,927:125	1|1:0,62:62:99:2247,186,0:125	0|0:42,0:42:99:0,126,1430:125
11	18738329	.	C	T	9597.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61886891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61886891" target="_blank">rs61886891</a>;ExAC.Info.AC=22581;ExAC.Info.AN=125464;ExAC.Info.AF=0.180;ExAC.Info.AC_Het=18010;ExAC.Info.AC_Hom=2281;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.729+9389C>T;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Aag;snpeff.Amino_Acid_Change=p.Glu398Lys/c.1192G>A;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000513874;SAVANT_GENE=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;SAVANT_INFO=-/21.9kb/23/4.3kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1192G>A_p.Glu398Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF22+c.1192G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18738329">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,27:67:99:727,0,1233:127	0|0:81,1:82:99:0,209,3017:127	1|1:0,96:96:99:3202,288,0:127
11	18738575	.	A	C	7823.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs61886892;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61886892" target="_blank">rs61886892</a>;ExAC.Info.AC=31862;ExAC.Info.AN=125620;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=22848;ExAC.Info.AC_Hom=4361;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.974-28T>G;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.729+9635A>C;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000513874;SAVANT_GENE=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;SAVANT_INFO=-/21.9kb/23/4.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.974-28T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF22+c.974-28T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18738575">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,21:62:99:624,0,1073:127	0|0:72,0:72:99:0,217,2603:127	1|1:0,71:71:99:2550,213,0:127
11	18743180	.	C	G	17265.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10832975;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10832975" target="_blank">rs10832975</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=51185;ExAC.Info.AN=125406;ExAC.Info.AF=0.408;ExAC.Info.AC_Het=28886;ExAC.Info.AC_Hom=11139;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.729+14240C>G;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280C>G;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280C>G;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Ig-like_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280C>G;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Ccc;snpeff.Amino_Acid_Change=p.Ala94Pro/c.280G>C;snpeff.Amino_Acid_length=1326;snpeff.Gene_Name=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000513874;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000513874;SAVANT_GENE=IGSF22;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=IGSF22" target="_blank">IGSF22</a>;SAVANT_INFO=-/21.9kb/23/4.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.280G>C_p.Ala94Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=IGSF22+c.280G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18743180">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,70:133:99:1989,0,1690:127	0|0:163,1:164:99:0,451,5632:127	1|1:0,151:151:99:5406,453,0:127
11	18751041	.	C	T	3360.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1550870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1550870" target="_blank">rs1550870</a>;ExAC.Info.AC=50294;ExAC.Info.AN=126646;ExAC.Info.AF=0.397;ExAC.Info.AC_Het=28436;ExAC.Info.AC_Hom=10506;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.730-10930C>T;snpeff.Gene_Name=RP11-1081L13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527285;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val521Val/c.1563G>A;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=PTPN5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1081L134" target="_blank">RP11-1081L134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358540;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358540;SAVANT_GENE=PTPN5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN5" target="_blank">PTPN5</a>;SAVANT_INFO=-/63.9kb/15/3.1kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1563G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN5+c.1563G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18751041">View</a>	GT:AD:DP:GQ:PL:TP	0|1:15,11:26:99:280,0,377:99	1|1:0,33:33:99:1027,99,0:99	0|1:5,5:10:99:166,0,140:99
11	18764026	.	G	C	4838.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4757707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4757707" target="_blank">rs4757707</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=46905;ExAC.Info.AN=126700;ExAC.Info.AF=0.370;ExAC.Info.AC_Het=27830;ExAC.Info.AC_Hom=9497;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cca/Gca;snpeff.Amino_Acid_Change=p.Pro170Ala/c.508C>G;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=PTPN5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN5" target="_blank">PTPN5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358540;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358540;SAVANT_GENE=PTPN5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN5" target="_blank">PTPN5</a>;SAVANT_INFO=-/63.9kb/15/3.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.508C>G_p.Pro170Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN5+c.508C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18764026">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,28:28:84:971,84,0:84	1|0:26,20:46:99:558,0,888:84	1|0:14,10:24:99:292,0,442:84
11	18771025	.	C	G	346.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;ExAC.Info.AC=506;ExAC.Info.AN=116592;ExAC.Info.AF=4.340e-03;ExAC.Info.AC_Het=395;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.98-5279G>C;snpeff.Amino_Acid_length=565;snpeff.Gene_Name=PTPN5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN5" target="_blank">PTPN5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000358540;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000358540;SAVANT_GENE=PTPN5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPN5" target="_blank">PTPN5</a>;SAVANT_INFO=-/63.9kb/15/3.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.98-5279G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPN5+c.98-5279G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18771025">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,13:43:99:116,0,759:100	0|0:47,7:54:99:0,101,1751:100	1|0:34,9:43:39:39,0,1178:100
11	18885006	.	G	A	9001.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=485;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72890676;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72890676" target="_blank">rs72890676</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72890676" target="_blank">rs72890676</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18885006">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,57:138:99:1371,0,2302:127	0|0:211,0:211:99:0,633,7057:127	1|0:65,71:136:99:1812,0,1888:127
11	18955861	.	C	T	13131.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=584;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72890000;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72890000" target="_blank">rs72890000</a>;ExAC.Info.AC=13396;ExAC.Info.AN=126536;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=11340;ExAC.Info.AC_Hom=988;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX1" target="_blank">MRGPRX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302797;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu157Glu/c.471G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MRGPRX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX1" target="_blank">MRGPRX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302797;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302797;SAVANT_GENE=MRGPRX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MRGPRX1" target="_blank">MRGPRX1</a>;SAVANT_INFO=-/1.2kb/1/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.471G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MRGPRX1+c.471G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18955861">View</a>	GT:AD:DP:GQ:PL:TP	0|1:84,102:186:99:2730,0,2360:127	1|0:131,99:230:99:2704,0,3886:127	0|0:168,0:168:99:0,505,5995:127
11	18994005	.	T	C	16794.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7114481;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7114481" target="_blank">rs7114481</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.246A>G;snpeff.Gene_Name=RP11-583F24.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-583F243" target="_blank">RP11-583F243</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527463;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-583F243" target="_blank">RP11-583F243</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-583F243+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:18994005">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1826,165,0:127	1|1:0,76:76:99:2537,228,0:127	1|1:0,65:65:99:2240,195,0:127
11	19167850	.	A	G	32661.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=508;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2271001;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271001" target="_blank">rs2271001</a>;ExAC.Info.AC=85758;ExAC.Info.AN=124794;ExAC.Info.AF=0.687;ExAC.Info.AC_Het=25142;ExAC.Info.AC_Hom=29894;snpeff.Effect=sequence_feature[repeat:ANK_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.296A>G;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446113;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.296A>G;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446113;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.296A>G;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446113;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys99Arg/c.296A>G;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446113;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000446113;SAVANT_GENE=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;SAVANT_INFO=+/59.3kb/17/2.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.296A>G_p.Lys99Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZDHHC13+c.296A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19167850">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:5035,415,0:127	1|0:112,88:200:99:2640,0,3237:127	1|1:0,170:170:99:6176,511,0:127
11	19169319	.	T	TC	8865.71	PASS	InheritancePattern=Normal;AC=2;AF=0.667;AN=3;DP=208;MQ=70.03;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./0;dbSNP139.ID=rs146892489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146892489" target="_blank">rs146892489</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.374+100_374+101insC;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446113;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375_376insC;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446113;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375_376insC;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446113;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000446113;SAVANT_GENE=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;SAVANT_INFO=+/59.3kb/17/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.374+110dupC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZDHHC13+c.374+110dupC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19169319">View</a>	GT:AD:DP:GQ:PL	./1:0,9:42:84:1269,820,717	./0:64,8:103:99:874,637,2107	./1:1,10:63:43:1875,1218,1137
11	19169319	.	T	TCC	8865.71	PASS	InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=208;MQ=70.03;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=0/1;dbSNP139.ID=rs146892489;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146892489" target="_blank">rs146892489</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.374+100_374+101insCC;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446113;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375_376insCC;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446113;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.375_376insCC;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446113;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000446113;SAVANT_GENE=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;SAVANT_INFO=+/59.3kb/17/2.4kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.374+109_374+110dupCC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZDHHC13+c.374+109_374+110dupCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19169319">View</a>	GT:AD:DP:GQ:PL	./1:0,33:42:84:1269,193,84	0/1:64,31:103:99:874,0,2065	./1:1,52:63:43:1875,193,43
11	19191922	.	CTT	C	97.68	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=24;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1475-35_1475-34delTT;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446113;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000446113;SAVANT_GENE=ZDHHC13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC13" target="_blank">ZDHHC13</a>;SAVANT_INFO=+/59.3kb/17/2.4kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1475-15_1475-14delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZDHHC13+c.1475-15_1475-14delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19191922">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,4:9:69:95,0,69:14	1|0:8,2:10:10:10,0,177:14	0|0:5,0:5:15:0,15,123:14
11	19206426	.	A	T	3690.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Cardiomyopathy|_dilated|_1M|_607482_(3)|_Cardiomyopathy|_familial_hypertrophic|_12|_612124_(3);dbSNP139.ID=rs2288251;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2288251" target="_blank">rs2288251</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.508+73T>A;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=CSRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSRP3" target="_blank">CSRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=CSRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSRP3" target="_blank">CSRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=CSRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSRP3" target="_blank">CSRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=CSRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSRP3" target="_blank">CSRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265968;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=CSRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSRP3" target="_blank">CSRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265968;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509A>T;snpeff.Amino_Acid_length=194;snpeff.Gene_Name=CSRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSRP3" target="_blank">CSRP3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265968;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533783;SAVANT_GENE=CSRP3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSRP3" target="_blank">CSRP3</a>;SAVANT_INFO=-/28.5kb/7/1.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.508+73T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSRP3+c.508+73T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19206426">View</a>	GT:AD:DP:GQ:PL:TP	0|0:116,0:116:99:0,349,3973:127	0|1:56,58:114:99:1864,0,1662:127	0|0:96,0:96:99:0,289,3477:127
11	19263370	.	CT	C	220.5	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=52;MQ=70.18;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.293-10421delT;snpeff.Gene_Name=RP11-428C19.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-428C194" target="_blank">RP11-428C194</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527978;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-428C194" target="_blank">RP11-428C194</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-428C194+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19263370">View</a>	GT:AD:DP:GQ:PL:TP	0/1:13,3:16:14:14,0,273:12	0/1:14,7:21:88:88,0,261:12	0/1:12,3:15:17:17,0,249:12
11	19735987	.	A	G	3426.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2278132;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2278132" target="_blank">rs2278132</a>;ExAC.Info.AC=6717;ExAC.Info.AN=15230;ExAC.Info.AF=0.441;ExAC.Info.AC_Het=2824;ExAC.Info.AC_Hom=1531;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.267+479A>G;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268A>G;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.267+479A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.267+479A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19735987">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,320,3445:127	0|0:121,0:121:99:0,363,3954:127	0|1:61,56:117:99:1732,0,1697:127
11	19798951	.	CT	C	379.31	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=47;MQ=70.07;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.268-55078delT;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268delT;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268delT;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268delT;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268delT;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268delT;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268delT;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.268delT;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.268-55066delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.268-55066delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19798951">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,3:17:27:27,0,317:18	0/1:14,4:18:19:19,0,316:18	0/1:9,3:12:29:29,0,138:18
11	19854088	.	G	A	2510.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=258;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6483617;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6483617" target="_blank">rs6483617</a>;ExAC.Info.AC=44037;ExAC.Info.AN=126704;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=27173;ExAC.Info.AC_Hom=8432;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CH];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aAg;snpeff.Amino_Acid_Change=p.Arg109Lys/c.326G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.326G>A_p.Arg109Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.326G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19854088">View</a>	GT:AD:DP:GQ:PL:TP	0|0:74,0:74:99:0,222,2414:127	0|1:59,46:105:99:1274,0,1685:127	0|0:79,0:79:99:0,237,2624:127
11	19901632	.	G	A	12636.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=408;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11025310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11025310" target="_blank">rs11025310</a>;ExAC.Info.AC=49927;ExAC.Info.AN=126594;ExAC.Info.AF=0.394;ExAC.Info.AC_Het=28352;ExAC.Info.AC_Hom=10345;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala243Ala/c.729G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.729G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.729G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19901632">View</a>	GT:AD:DP:GQ:PL:TP	0/1:84,60:144:99:1482,0,2386:127	0/1:78,65:143:99:1762,0,2224:127	0/1:62,59:121:99:1774,0,1758:127
11	19955500	.	A	G	26674.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1372989;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1372989" target="_blank">rs1372989</a>;ExAC.Info.AC=104168;ExAC.Info.AN=126596;ExAC.Info.AF=0.823;ExAC.Info.AC_Het=16236;ExAC.Info.AC_Hom=42448;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys593Lys/c.1779A>G;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1710A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.1710A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19955500">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3600,312,0:127	1|1:0,96:96:99:3604,288,0:127	1|1:0,97:97:99:3432,291,0:127
11	19967872	.	T	C	4347.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs67192906;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67192906" target="_blank">rs67192906</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2216-75T>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.2147-75T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.2147-75T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19967872">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,26:51:99:810,0,637:127	1|0:40,30:70:99:862,0,1154:127	0|0:51,0:51:99:0,153,1772:127
11	19970558	.	T	C	32000.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=385;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2585773;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2585773" target="_blank">rs2585773</a>;ExAC.Info.AC=125536;ExAC.Info.AN=126702;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=1032;ExAC.Info.AC_Hom=62151;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp882Asp/c.2646T>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.2577T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.2577T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19970558">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4167,366,0:127	1|1:0,138:138:99:4975,414,0:127	1|1:0,125:125:99:4439,375,0:127
11	19970579	.	C	T	33938.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=409;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2707084;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2707084" target="_blank">rs2707084</a>;ExAC.Info.AC=124783;ExAC.Info.AN=126698;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1598;ExAC.Info.AC_Hom=61357;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp889Asp/c.2667C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.2598C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.2598C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:19970579">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,139:139:99:4752,417,0:127	1|1:0,136:136:99:4994,409,0:127	1|1:0,134:134:99:4892,402,0:127
11	20065779	.	C	G	47664.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=566;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3802800;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802800" target="_blank">rs3802800</a>;ExAC.Info.AC=120516;ExAC.Info.AN=126698;ExAC.Info.AF=0.951;ExAC.Info.AC_Het=4975;ExAC.Info.AC_Hom=57639;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.395G>C;snpeff.Gene_Name=NAV2-AS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2-AS2" target="_blank">NAV2-AS2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533767;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Gct;snpeff.Amino_Acid_Change=p.Pro1077Ala/c.3229C>G;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2-AS2" target="_blank">NAV2-AS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.3160C>G_p.Pro1054Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.3160C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20065779">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,188:188:99:6801,564,0:127	1|1:0,217:217:99:7944,652,0:127	1|1:0,161:161:99:5775,483,0:127
11	20067064	.	C	T	28967.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=485;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7125647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7125647" target="_blank">rs7125647</a>;ExAC.Info.AC=77535;ExAC.Info.AN=126704;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=28564;ExAC.Info.AC_Hom=24450;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.331-1221G>A;snpeff.Gene_Name=NAV2-AS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2-AS2" target="_blank">NAV2-AS2</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533767;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp1273Asp/c.3819C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2-AS2" target="_blank">NAV2-AS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.3750C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.3750C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20067064">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,153:153:99:4944,460,0:127	1|0:107,91:198:99:2330,0,3301:127	1|1:0,134:134:99:4554,403,0:127
11	20072779	.	C	T	21812.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6483635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6483635" target="_blank">rs6483635</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4506-56C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4506C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4506C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4506C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4506C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4506C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4506C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4506C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.4437-56C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.4437-56C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20072779">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,74:75:99:2444,185,0:127	1|1:0,118:118:99:4218,355,0:127	1|1:0,74:74:99:2674,223,0:127
11	20075573	.	A	T	8543.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=333;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs35849418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35849418" target="_blank">rs35849418</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4551-53A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4551A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.4482-53A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.4482-53A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20075573">View</a>	GT:AD:DP:GQ:PL:TP	0|1:50,39:89:99:1070,0,1523:127	1|0:63,76:139:99:2381,0,1933:127	0|0:105,0:105:99:0,316,3943:127
11	20089792	.	G	C	10378.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1234;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1442711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1442711" target="_blank">rs1442711</a>;ExAC.Info.AC=29453;ExAC.Info.AN=126704;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=21069;ExAC.Info.AC_Hom=4181;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5076+37G>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5077G>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5077G>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5077G>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5077G>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.4908+37G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.4908+37G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20089792">View</a>	GT:AD:DP:GQ:PL:TP	0|0:406,0:406:99:0,1219,13766:127	0|0:453,0:453:99:0,1361,15774:127	0|1:194,181:375:99:5208,0,5770:127
11	20089944	.	T	C	5026.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=503;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1442710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1442710" target="_blank">rs1442710</a>;ExAC.Info.AC=30616;ExAC.Info.AN=126704;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=21400;ExAC.Info.AC_Hom=4591;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5151T>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5151T>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5151T>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5151T>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn1717Asn/c.5151T>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5151T>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex22;SAVANT_HGVS=c.4983T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.4983T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20089944">View</a>	GT:AD:DP:GQ:PL:TP	0|0:167,0:167:99:0,501,6404:127	0|0:167,0:167:99:0,502,6585:127	0|1:86,83:169:99:2532,0,2959:127
11	20099112	.	A	T	28539.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4757028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4757028" target="_blank">rs4757028</a>;ExAC.Info.AC=113503;ExAC.Info.AN=126702;ExAC.Info.AF=0.896;ExAC.Info.AC_Het=11604;ExAC.Info.AC_Hom=50906;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5166A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5166A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5166A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5166A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcT;snpeff.Amino_Acid_Change=p.Ala1722Ala/c.5166A>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.4998A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.4998A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20099112">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,134:134:99:4546,403,0:127	1|1:0,117:117:99:4083,352,0:127	1|1:0,89:89:99:3388,268,0:127
11	20099541	.	C	T	24756.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=303;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6483642;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6483642" target="_blank">rs6483642</a>;ExAC.Info.AC=112863;ExAC.Info.AN=126686;ExAC.Info.AF=0.891;ExAC.Info.AC_Het=12020;ExAC.Info.AC_Hom=50025;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5238C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5238C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5238C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5238C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp1746Asp/c.5238C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5238C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex24;SAVANT_HGVS=c.5070C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.5070C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20099541">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:3865,360,0:127	1|1:0,91:91:99:3149,273,0:127	1|1:0,92:92:99:3098,276,0:127
11	20101524	.	G	A	736.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs4757888;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4757888" target="_blank">rs4757888</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5348-86G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=In24/25;SAVANT_HGVS=c.5180-86G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.5180-86G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20101524">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1577:127	0|0:45,0:45:99:0,135,1529:127	0|1:27,16:43:99:387,0,773:127
11	20101704	.	C	T	12453.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1867114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1867114" target="_blank">rs1867114</a>;ExAC.Info.AC=112605;ExAC.Info.AN=126700;ExAC.Info.AF=0.889;ExAC.Info.AC_Het=12266;ExAC.Info.AC_Hom=50032;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser1814Ser/c.5442C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.5274C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.5274C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20101704">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,41:109:99:980,0,1851:127	1|1:0,99:99:99:3331,297,0:127	0|1:54,35:89:99:955,0,1669:127
11	20101744	.	C	A	10787.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=254;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1867115;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1867115" target="_blank">rs1867115</a>;ExAC.Info.AC=113674;ExAC.Info.AN=126694;ExAC.Info.AF=0.897;ExAC.Info.AC_Het=11321;ExAC.Info.AC_Hom=50745;snpeff.Effect=sequence_feature[compositionally_biased_region:Poly-Lys];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5482C>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cgg/Agg;snpeff.Amino_Acid_Change=p.Arg1828Arg/c.5482C>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.5314C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.5314C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20101744">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,34:90:99:842,0,1617:127	1|1:0,82:82:99:2915,246,0:127	0|1:55,27:82:99:758,0,1565:127
11	20101769	.	C	T	1338.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3758695;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758695" target="_blank">rs3758695</a>;ExAC.Info.AC=34350;ExAC.Info.AN=126670;ExAC.Info.AF=0.271;ExAC.Info.AC_Het=22692;ExAC.Info.AC_Hom=5250;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5493+14C>T;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.5325+14C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.5325+14C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20101769">View</a>	GT:AD:DP:GQ:PL:TP	0|0:80,0:80:99:0,240,2947:127	0|0:74,0:74:99:0,222,2693:127	0|1:38,25:63:99:688,0,1185:127
11	20104669	.	G	A	15260.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2028570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2028570" target="_blank">rs2028570</a>;ExAC.Info.AC=66987;ExAC.Info.AN=126704;ExAC.Info.AF=0.529;ExAC.Info.AC_Het=29110;ExAC.Info.AC_Hom=18925;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro1873Pro/c.5619G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex27;SAVANT_HGVS=c.5451G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.5451G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20104669">View</a>	GT:AD:DP:GQ:PL:TP	0|1:73,54:127:99:1407,0,2092:127	1|1:0,161:161:99:5580,484,0:127	0|0:126,3:129:99:0,302,4478:127
11	20112373	.	A	G	2428.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2289560;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2289560" target="_blank">rs2289560</a>;ExAC.Info.AC=41784;ExAC.Info.AN=126638;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=25609;ExAC.Info.AC_Hom=7476;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5676-38A>G;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=In27/28;SAVANT_HGVS=c.5508-38A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.5508-38A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20112373">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,274,3204:127	0|0:100,0:100:99:0,301,3576:127	0|1:44,38:82:99:1233,0,1435:127
11	20112417	.	A	C	3966.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=457;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2243624;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243624" target="_blank">rs2243624</a>;ExAC.Info.AC=44260;ExAC.Info.AN=126696;ExAC.Info.AF=0.349;ExAC.Info.AC_Het=26834;ExAC.Info.AC_Hom=8668;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcC;snpeff.Amino_Acid_Change=p.Ser1894Ser/c.5682A>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.5514A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.5514A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20112417">View</a>	GT:AD:DP:GQ:PL:TP	0|0:146,0:146:99:0,439,4945:127	0|0:175,0:175:99:0,526,5917:127	0|1:59,77:136:99:2002,0,1748:127
11	20112492	.	G	A	16375.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1837971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1837971" target="_blank">rs1837971</a>;ExAC.Info.AC=64493;ExAC.Info.AN=126704;ExAC.Info.AF=0.509;ExAC.Info.AC_Het=30028;ExAC.Info.AC_Hom=17211;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5757G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.5757G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr1919Thr/c.5757G>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.5589G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.5589G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20112492">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,72:140:99:1916,0,1845:127	1|1:0,154:154:99:5402,466,0:127	0|0:158,0:158:99:0,475,5326:127
11	20124914	.	A	C	56095.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=742;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2243411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243411" target="_blank">rs2243411</a>;ExAC.Info.AC=122692;ExAC.Info.AN=126704;ExAC.Info.AF=0.968;ExAC.Info.AC_Het=3553;ExAC.Info.AC_Hom=59545;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggC;snpeff.Amino_Acid_Change=p.Gly2236Gly/c.6708A>C;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=Ex34;SAVANT_HGVS=c.6540A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.6540A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20124914">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,229:230:99:7490,655,0:127	1|1:0,268:268:99:9104,804,0:127	1|1:0,244:244:99:8153,732,0:127
11	20127046	.	C	A	57610.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=835;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11025385;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11025385" target="_blank">rs11025385</a>;ExAC.Info.AC=93035;ExAC.Info.AN=126638;ExAC.Info.AF=0.735;ExAC.Info.AC_Het=20502;ExAC.Info.AC_Hom=34936;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.6822-31C>A;snpeff.Amino_Acid_length=2488;snpeff.Gene_Name=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396087;snpeff.Exon_Rank=37;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396085;SAVANT_GENE=NAV2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAV2" target="_blank">NAV2</a>;SAVANT_INFO=+/408.3kb/39/11.0kb;SAVANT_LOC=In35/36;SAVANT_HGVS=c.6654-31C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAV2+c.6654-31C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20127046">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,295:295:99:9302,886,0:127	1|1:0,287:287:99:9302,862,0:127	1|1:0,253:253:99:8161,760,0:127
11	20403825	.	A	T	14433.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7926967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7926967" target="_blank">rs7926967</a>;ExAC.Info.AC=125608;ExAC.Info.AN=126672;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=957;ExAC.Info.AC_Hom=61732;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.605+40A>T;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=HTATIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTATIP2" target="_blank">HTATIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419348;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419348;SAVANT_GENE=HTATIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTATIP2" target="_blank">HTATIP2</a>;SAVANT_INFO=+/20.0kb/6/1.5kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.605+40A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HTATIP2+c.605+40A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20403825">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,56:56:99:1973,168,0:127	1|1:0,67:67:99:2351,201,0:127	1|1:0,64:64:99:2265,192,0:127
11	20404613	.	T	G	14262.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3824886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824886" target="_blank">rs3824886</a>;ExAC.Info.AC=108543;ExAC.Info.AN=126704;ExAC.Info.AF=0.857;ExAC.Info.AC_Het=12571;ExAC.Info.AC_Hom=47871;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.693T>G;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=HTATIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTATIP2" target="_blank">HTATIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419348;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=agT/agG;snpeff.Amino_Acid_Change=p.Ser231Arg/c.693T>G;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=HTATIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTATIP2" target="_blank">HTATIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419348;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419348;SAVANT_GENE=HTATIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTATIP2" target="_blank">HTATIP2</a>;SAVANT_INFO=+/20.0kb/6/1.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.693T>G_p.Ser231Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HTATIP2+c.693T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20404613">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2140,189,0:127	1|1:0,68:68:99:2398,204,0:127	1|1:0,49:49:99:1686,147,0:127
11	20404757	.	T	C	32922.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=392;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3781679;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3781679" target="_blank">rs3781679</a>;ExAC.Info.AC=108187;ExAC.Info.AN=126670;ExAC.Info.AF=0.854;ExAC.Info.AC_Het=12508;ExAC.Info.AC_Hom=46749;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=6;snpeff.Amino_Acid_Change=c.*6T>C;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=HTATIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTATIP2" target="_blank">HTATIP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419348;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419348;SAVANT_GENE=HTATIP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTATIP2" target="_blank">HTATIP2</a>;SAVANT_INFO=+/20.0kb/6/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*6T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HTATIP2+c.*6T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20404757">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,142:142:99:4783,426,0:127	1|1:0,134:134:99:4776,402,0:127	1|1:0,116:116:99:4018,348,0:127
11	20429454	.	T	C	53869.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=707;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10741836;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10741836" target="_blank">rs10741836</a>;ExAC.Info.AC=120211;ExAC.Info.AN=126700;ExAC.Info.AF=0.949;ExAC.Info.AC_Het=4958;ExAC.Info.AC_Hom=57573;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.772-3T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.772T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331079;SAVANT_GENE=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;SAVANT_INFO=+/121.7kb/16/2.7kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.772-3T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRMT3+c.772-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20429454">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,219:219:99:7767,658,0:127	1|1:0,264:264:99:9340,793,0:127	1|1:0,224:224:99:8046,676,0:127
11	20473655	.	T	G	25027.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=331;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1001669;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1001669" target="_blank">rs1001669</a>;ExAC.Info.AC=108328;ExAC.Info.AN=126664;ExAC.Info.AF=0.855;ExAC.Info.AC_Het=12629;ExAC.Info.AC_Hom=47699;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.994-21T>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>G;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331079;SAVANT_GENE=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;SAVANT_INFO=+/121.7kb/16/2.7kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.994-21T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRMT3+c.994-21T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20473655">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3528,294,0:127	1|1:0,131:131:99:5033,397,0:127	1|1:0,102:102:99:3591,306,0:127
11	20483748	.	T	C	26744.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=582;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs3758803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758803" target="_blank">rs3758803</a>;ExAC.Info.AC=58100;ExAC.Info.AN=126638;ExAC.Info.AF=0.459;ExAC.Info.AC_Het=28834;ExAC.Info.AC_Hom=14304;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1260+35T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1261T>C;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331079;SAVANT_GENE=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;SAVANT_INFO=+/121.7kb/16/2.7kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1260+35T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRMT3+c.1260+35T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20483748">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,189:189:99:7073,571,0:127	1|0:107,81:188:99:2731,0,3228:127	1|0:116,89:205:99:2894,0,3522:127
11	20515555	.	G	A	36325.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=517;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs6483697;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6483697" target="_blank">rs6483697</a>;ExAC.Info.AC=126295;ExAC.Info.AN=126298;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=62222;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1398+40G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1399G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1399G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1399G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1399G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1399G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1399G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1399G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1399G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1399G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1399G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331079;SAVANT_GENE=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;SAVANT_INFO=+/121.7kb/16/2.7kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1398+40G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRMT3+c.1398+40G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20515555">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,172:172:99:6042,517,0:127	1|1:0,183:183:99:6532,550,0:127	1|1:0,162:162:99:5962,487,0:127
11	20529886	.	G	A	56429.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=780;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6483700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6483700" target="_blank">rs6483700</a>;ExAC.Info.AC=126262;ExAC.Info.AN=126692;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=405;ExAC.Info.AC_Hom=62863;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1523G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1523G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1523G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1523G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1523G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1523G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1523G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1523G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1523G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SAM-dependent_MTase_PRMT-type];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1523G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser508Asn/c.1523G>A;snpeff.Amino_Acid_length=531;snpeff.Gene_Name=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000331079;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000331079;SAVANT_GENE=PRMT3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRMT3" target="_blank">PRMT3</a>;SAVANT_INFO=+/121.7kb/16/2.7kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1523G>A_p.Ser508Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRMT3+c.1523G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20529886">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,251:251:99:8306,756,0:127	1|1:0,262:262:99:8942,787,0:127	1|1:0,267:267:99:8901,802,0:127
11	20562519	.	C	T	28337.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7128311;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7128311" target="_blank">rs7128311</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7128311" target="_blank">rs7128311</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20562519">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,126:127:99:4037,372,0:127	1|1:0,154:154:99:5146,463,0:127	1|1:0,130:130:99:4397,390,0:127
11	20621043	.	T	G	3039.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=154;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs58405430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58405430" target="_blank">rs58405430</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=176;snpeff.Amino_Acid_Change=c.-176T>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-176T>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.-176T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20621043">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,33:66:99:923,0,877:127	0|0:59,0:59:99:0,177,2024:127	1|0:11,18:29:99:630,0,275:127
11	20622975	.	G	A	18585.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1443547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1443547" target="_blank">rs1443547</a>;ExAC.Info.AC=43690;ExAC.Info.AN=125370;ExAC.Info.AF=0.348;ExAC.Info.AC_Het=23582;ExAC.Info.AC_Hom=6884;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.304G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly102Ser/c.304G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.304G>A_p.Gly102Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.304G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20622975">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2521,201,0:127	1|0:27,54:81:99:1774,0,803:127	1|1:0,70:70:99:2708,211,0:127
11	20623007	.	C	T	3556.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs7109418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7109418" target="_blank">rs7109418</a>;ExAC.Info.AC=29632;ExAC.Info.AN=126304;ExAC.Info.AF=0.235;ExAC.Info.AC_Het=20174;ExAC.Info.AC_Hom=3435;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.336C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.336C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.336C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser112Ser/c.336C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.336C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.336C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20623007">View</a>	GT:AD:DP:GQ:PL:TP	0|0:93,0:93:99:0,295,4313:127	0|1:74,47:121:99:1797,0,2963:127	0|0:87,0:87:99:0,283,4106:127
11	20623023	.	C	T	4572.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs2241941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2241941" target="_blank">rs2241941</a>;ExAC.Info.AC=41744;ExAC.Info.AN=126528;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=26852;ExAC.Info.AC_Hom=6421;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.352C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu118Leu/c.352C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.352C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.352C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20623023">View</a>	GT:AD:DP:GQ:PL:TP	0|0:119,0:119:99:0,361,5092:127	0|1:79,66:145:99:2305,0,3037:127	0|0:111,0:111:99:0,334,4876:127
11	20623042	.	T	C	40645.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=441;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1443548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1443548" target="_blank">rs1443548</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=97705;ExAC.Info.AN=126572;ExAC.Info.AF=0.772;ExAC.Info.AC_Het=21429;ExAC.Info.AC_Hom=36974;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371T>C;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371T>C;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.371T>C;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tCt;snpeff.Amino_Acid_Change=p.Phe124Ser/c.371T>C;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.371T>C_p.Phe124Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.371T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20623042">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:4973,418,0:127	1|1:0,169:169:99:6687,514,0:127	1|1:0,134:134:99:5085,402,0:127
11	20623156	.	C	G	39892.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=458;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1443549;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1443549" target="_blank">rs1443549</a>;ExAC.Info.AC=126446;ExAC.Info.AN=126654;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=203;ExAC.Info.AC_Hom=62635;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485C>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485C>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485C>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCc/gGc;snpeff.Amino_Acid_Change=p.Ala162Gly/c.485C>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.485C>G_p.Ala162Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.485C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20623156">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:5289,445,0:127	1|1:0,167:167:99:5931,501,0:127	1|1:0,143:143:99:5270,429,0:127
11	20628776	.	G	A	7677.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=375;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs72927523;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72927523" target="_blank">rs72927523</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.811+92G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.812G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.811+92G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.811+92G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20628776">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,58:118:99:1502,0,1686:127	1|0:58,62:120:99:1591,0,1735:127	0|0:137,0:137:99:0,412,4909:127
11	20639400	.	A	G	53929.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=683;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs7925597;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7925597" target="_blank">rs7925597</a>;ExAC.Info.AC=126567;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=133;ExAC.Info.AC_Hom=63217;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1230A>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser410Ser/c.1230A>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1230A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.1230A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20639400">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,201:201:99:6634,603,0:127	1|1:0,258:258:99:8553,775,0:127	1|1:0,224:224:99:7270,672,0:127
11	20639457	.	A	G	5995.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=437;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs11025653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11025653" target="_blank">rs11025653</a>;ExAC.Info.AC=30696;ExAC.Info.AN=126704;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=21799;ExAC.Info.AC_Hom=4445;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1260+27A>G;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1260+27A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.1260+27A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20639457">View</a>	GT:AD:DP:GQ:PL:TP	0|0:124,0:124:99:0,373,4187:127	0|1:75,96:171:99:3016,0,2124:127	0|0:142,0:142:99:0,427,4894:127
11	20639479	.	G	A	10723.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=304;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs11827415;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11827415" target="_blank">rs11827415</a>;ExAC.Info.AC=50662;ExAC.Info.AN=126702;ExAC.Info.AF=0.400;ExAC.Info.AC_Het=29625;ExAC.Info.AC_Hom=10466;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1260+49G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1260+49G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.1260+49G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20639479">View</a>	GT:AD:DP:GQ:PL:TP	0/1:49,41:90:99:1253,0,1511:127	0/1:65,61:126:99:1988,0,2070:127	0/1:49,39:88:99:1251,0,1601:127
11	20648418	.	C	T	19101.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs4923548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4923548" target="_blank">rs4923548</a>;ExAC.Info.AC=124499;ExAC.Info.AN=126702;ExAC.Info.AF=0.983;ExAC.Info.AC_Het=1790;ExAC.Info.AC_Hom=61324;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1395+30C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1395+30C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.1395+30C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20648418">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2712,238,0:127	1|1:0,86:86:99:3035,259,0:127	1|1:0,74:74:99:2625,222,0:127
11	20649448	.	G	A	6416.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=298;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs2276429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2276429" target="_blank">rs2276429</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1396-78G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1396-78G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.1396-78G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20649448">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,40:102:99:1128,0,1948:127	0|0:115,0:115:99:0,346,4110:127	1|0:38,43:81:99:1278,0,1127:127
11	20658679	.	C	A	15247.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=219;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs2000959;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2000959" target="_blank">rs2000959</a>;ExAC.Info.AC=44639;ExAC.Info.AN=126704;ExAC.Info.AF=0.352;ExAC.Info.AC_Het=27361;ExAC.Info.AC_Hom=8629;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1738-39C>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1738-39C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.1738-39C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20658679">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2575,213,0:127	1|0:46,43:89:99:1310,0,1537:127	1|1:0,59:59:99:2169,177,0:127
11	20659683	.	A	C	38896.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=621;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs2298825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298825" target="_blank">rs2298825</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1870-322A>C;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1870-322A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.1870-322A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20659683">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,194:194:99:6639,583,0:127	1|0:110,119:229:99:3352,0,2834:127	1|1:1,197:198:99:6711,557,0:127
11	20659757	.	G	A	7266.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=764;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs2298826;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298826" target="_blank">rs2298826</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1870-248G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1870-248G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.1870-248G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20659757">View</a>	GT:AD:DP:GQ:PL:TP	0|0:233,0:233:99:0,700,7958:127	0|1:138,135:273:99:3652,0,3815:127	0|0:257,1:258:99:0,732,8626:127
11	20660149	.	C	T	6034.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=523;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs72932948;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72932948" target="_blank">rs72932948</a>;ExAC.Info.AC=20361;ExAC.Info.AN=126702;ExAC.Info.AF=0.161;ExAC.Info.AC_Het=16272;ExAC.Info.AC_Hom=2040;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1969+45C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1970C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1970C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1969+45C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.1969+45C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20660149">View</a>	GT:AD:DP:GQ:PL:TP	0|0:158,0:158:99:0,475,5551:127	0|1:107,102:209:99:3036,0,3078:127	0|0:156,0:156:99:0,469,5458:127
11	20673832	.	C	A	1180.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs72932998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72932998" target="_blank">rs72932998</a>;ExAC.Info.AC=20585;ExAC.Info.AN=126704;ExAC.Info.AF=0.162;ExAC.Info.AC_Het=16399;ExAC.Info.AC_Hom=2085;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2071-3C>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071C>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071C>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2071C>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.2071-3C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.2071-3C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20673832">View</a>	GT:AD:DP:GQ:PL:TP	0|0:58,0:58:99:0,174,2047:127	0|1:41,26:67:99:609,0,1313:127	0|0:78,0:78:99:0,234,2713:127
11	20673867	.	G	A	8149.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs2276433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2276433" target="_blank">rs2276433</a>;ExAC.Info.AC=57107;ExAC.Info.AN=126704;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=27869;ExAC.Info.AC_Hom=14616;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu701Glu/c.2103G>A;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.2103G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.2103G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20673867">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,41:69:99:1107,0,718:127	0/1:29,44:73:99:1306,0,858:127	0/1:34,40:74:99:1081,0,948:127
11	20676417	.	C	T	7633.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=735;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Hyperekplexia_3|_614618_(3);dbSNP139.ID=rs1401793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1401793" target="_blank">rs1401793</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3;snpeff.Amino_Acid_Change=c.*3C>T;snpeff.Amino_Acid_length=797;snpeff.Gene_Name=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000525748;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525748;SAVANT_GENE=SLC6A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A5" target="_blank">SLC6A5</a>;SAVANT_INFO=+/59.9kb/16/7.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*3C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC6A5+c.*3C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20676417">View</a>	GT:AD:DP:GQ:PL:TP	0|0:204,0:204:99:0,613,7069:127	0|1:162,134:296:99:3838,0,5135:127	0|0:235,0:235:99:0,706,8512:127
11	20805286	.	G	A	30118.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=612;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs8176785;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8176785" target="_blank">rs8176785</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Crohn_disease|_association_with;hgmd_2014.2.OMIM_ID=602319;hgmd_2014.2.PubMed=17684544;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17684544" target="_blank">17684544</a>;ExAC.Info.AC=93121;ExAC.Info.AN=126704;ExAC.Info.AF=0.735;ExAC.Info.AC_Het=21936;ExAC.Info.AC_Hom=35586;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg110Gln/c.329G>A;snpeff.Amino_Acid_length=838;snpeff.Gene_Name=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NELL1" target="_blank">NELL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298925;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357134;SAVANT_GENE=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NELL1" target="_blank">NELL1</a>;SAVANT_INFO=+/905.9kb/20/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.245G>A_p.Arg82Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NELL1+c.245G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20805286">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,182:182:99:6190,547,0:127	1|0:123,113:236:99:3215,0,3413:127	1|0:112,82:194:99:2325,0,3129:127
11	20805335	.	C	T	13988.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=663;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs2280363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2280363" target="_blank">rs2280363</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=30355;ExAC.Info.AN=126704;ExAC.Info.AF=0.240;ExAC.Info.AC_Het=22165;ExAC.Info.AC_Hom=4094;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser126Ser/c.378C>T;snpeff.Amino_Acid_length=838;snpeff.Gene_Name=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NELL1" target="_blank">NELL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298925;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357134;SAVANT_GENE=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NELL1" target="_blank">NELL1</a>;SAVANT_INFO=+/905.9kb/20/3.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.294C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NELL1+c.294C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20805335">View</a>	GT:AD:DP:GQ:PL:TP	0|0:209,0:209:99:0,628,7114:127	0|1:112,129:241:99:3646,0,3328:127	0|1:97,116:213:99:3368,0,2841:127
11	20959429	.	T	C	30568.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=369;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1880087;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1880087" target="_blank">rs1880087</a>;ExAC.Info.AC=85650;ExAC.Info.AN=126690;ExAC.Info.AF=0.676;ExAC.Info.AC_Het=25978;ExAC.Info.AC_Hom=29765;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1155+24T>C;snpeff.Amino_Acid_length=838;snpeff.Gene_Name=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NELL1" target="_blank">NELL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298925;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357134;SAVANT_GENE=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NELL1" target="_blank">NELL1</a>;SAVANT_INFO=+/905.9kb/20/3.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1071+24T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NELL1+c.1071+24T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20959429">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4599,373,0:127	1|1:0,141:141:99:5255,424,0:127	1|1:0,104:104:99:3498,312,0:127
11	20959482	.	G	C	20014.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=241;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1880086;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1880086" target="_blank">rs1880086</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1155+77G>C;snpeff.Amino_Acid_length=838;snpeff.Gene_Name=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NELL1" target="_blank">NELL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298925;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357134;SAVANT_GENE=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NELL1" target="_blank">NELL1</a>;SAVANT_INFO=+/905.9kb/20/3.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1071+77G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NELL1+c.1071+77G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:20959482">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2759,225,0:127	1|1:0,92:92:99:3594,277,0:127	1|1:0,74:74:99:2869,223,0:127
11	21305927	.	T	C	25106.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4151053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4151053" target="_blank">rs4151053</a>;ExAC.Info.AC=45017;ExAC.Info.AN=49996;ExAC.Info.AF=0.900;ExAC.Info.AC_Het=1217;ExAC.Info.AC_Hom=7760;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.603T>C;snpeff.Gene_Name=CTD-2302A16.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-2302A162" target="_blank">CTD-2302A162</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000525269;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1633+54927T>C;snpeff.Amino_Acid_length=838;snpeff.Gene_Name=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-2302A162" target="_blank">CTD-2302A162</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298925;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357134;SAVANT_GENE=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NELL1" target="_blank">NELL1</a>;SAVANT_INFO=+/905.9kb/20/3.0kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1549+54927T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NELL1+c.1549+54927T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:21305927">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,77:78:99:2676,198,0:127	1|1:0,120:120:99:4257,361,0:127	1|1:0,94:94:99:3337,282,0:127
11	21581805	.	C	T	18266.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs8176789;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8176789" target="_blank">rs8176789</a>;ExAC.Info.AC=89661;ExAC.Info.AN=126692;ExAC.Info.AF=0.708;ExAC.Info.AC_Het=23016;ExAC.Info.AC_Hom=33269;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly647Gly/c.1941C>T;snpeff.Amino_Acid_length=838;snpeff.Gene_Name=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NELL1" target="_blank">NELL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298925;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357134;SAVANT_GENE=NELL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NELL1" target="_blank">NELL1</a>;SAVANT_INFO=+/905.9kb/20/3.0kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.1857C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NELL1+c.1857C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:21581805">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,58:58:99:1811,174,0:127	1|1:0,91:91:99:3070,273,0:127	1|1:0,75:75:99:2552,225,0:127
11	22214903	.	G	C	12734.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Gnathodiaphyseal_dysplasia|_166260_(3)|_Muscular_dystrophy|_limb-girdle|_type_2L|_611307_(3)|_Miyoshi_muscular_dystrophy_3|_613319_(3);dbSNP139.ID=rs12792259;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12792259" target="_blank">rs12792259</a>;Clinvar.ClinicalSignificance=not_provided;Clinvar.RCVaccession=RCV000128763;Clinvar.PhenotypeIDs=MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=not_classified_by_submitter;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=136;snpeff.Amino_Acid_Change=c.-136G>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324559;SAVANT_GENE=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;SAVANT_INFO=+/90.2kb/22/6.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-136G>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO5+c.-136G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22214903">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128763" target="_blank">not_provided</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1615,136,0:127	1|1:0,47:47:99:1630,139,0:127	1|1:0,45:45:99:1571,133,0:127
11	22242729	.	T	C	14643.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Gnathodiaphyseal_dysplasia|_166260_(3)|_Muscular_dystrophy|_limb-girdle|_type_2L|_611307_(3)|_Miyoshi_muscular_dystrophy_3|_613319_(3);dbSNP139.ID=rs4312063;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4312063" target="_blank">rs4312063</a>;ExAC.Info.AC=98200;ExAC.Info.AN=126582;ExAC.Info.AF=0.776;ExAC.Info.AC_Het=20506;ExAC.Info.AC_Hom=38619;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000128783|RCV000082848;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.267T>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp89Asp/c.267T>C;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324559;SAVANT_GENE=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;SAVANT_INFO=+/90.2kb/22/6.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.267T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO5+c.267T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22242729">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128783%20OR%20RCV000082848" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:1934,179,0:127	1|1:0,71:71:99:2231,213,0:127	1|1:0,63:63:99:2135,189,0:127
11	22271870	.	A	T	42792.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=592;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Gnathodiaphyseal_dysplasia|_166260_(3)|_Muscular_dystrophy|_limb-girdle|_type_2L|_611307_(3)|_Miyoshi_muscular_dystrophy_3|_613319_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7481951;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7481951" target="_blank">rs7481951</a>;ExAC.Info.AC=60984;ExAC.Info.AN=126666;ExAC.Info.AF=0.481;ExAC.Info.AC_Het=27977;ExAC.Info.AC_Hom=16278;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000128791|RCV000082855;Clinvar.PhenotypeIDs=MedGen:CN169374|MedGen:CN221809;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_multiple_submitters;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.966A>T;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.966A>T;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.966A>T;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttA/ttT;snpeff.Amino_Acid_Change=p.Leu322Phe/c.966A>T;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324559;SAVANT_GENE=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;SAVANT_INFO=+/90.2kb/22/6.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.966A>T_p.Leu322Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO5+c.966A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22271870">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128791%20OR%20RCV000082855" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,174:174:99:5871,522,0:127	1|1:0,212:212:99:7336,637,0:127	1|1:0,206:206:99:7058,619,0:127
11	22283640	.	G	A	8156.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=496;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Gnathodiaphyseal_dysplasia|_166260_(3)|_Muscular_dystrophy|_limb-girdle|_type_2L|_611307_(3)|_Miyoshi_muscular_dystrophy_3|_613319_(3);dbSNP139.ID=rs72982041;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72982041" target="_blank">rs72982041</a>;ExAC.Info.AC=509;ExAC.Info.AN=126678;ExAC.Info.AF=4.018e-03;ExAC.Info.AC_Het=507;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.88+75C>T;snpeff.Gene_Name=CTD-3064C13.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-3064C131" target="_blank">CTD-3064C131</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526935;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1631-35G>A;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-3064C131" target="_blank">CTD-3064C131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1631G>A;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-3064C131" target="_blank">CTD-3064C131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1631G>A;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-3064C131" target="_blank">CTD-3064C131</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000324559;SAVANT_GENE=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;SAVANT_INFO=+/90.2kb/22/6.7kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1631-35G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO5+c.1631-35G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22283640">View</a>	GT:AD:DP:GQ:PL:TP	1|0:83,65:148:99:1759,0,2489:127	0|0:173,0:173:99:0,520,6445:127	1|0:92,83:175:99:2276,0,2720:127
11	22297606	.	AT	A	19125.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=358;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Gnathodiaphyseal_dysplasia|_166260_(3)|_Muscular_dystrophy|_limb-girdle|_type_2L|_611307_(3)|_Miyoshi_muscular_dystrophy_3|_613319_(3);dbSNP139.ID=rs5790245;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5790245" target="_blank">rs5790245</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2415-33delT;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2415delT;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2415delT;snpeff.Amino_Acid_length=913;snpeff.Gene_Name=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000324559;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000324559;SAVANT_GENE=ANO5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO5" target="_blank">ANO5</a>;SAVANT_INFO=+/90.2kb/22/6.7kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2415-22delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO5+c.2415-22delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22297606">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,103:103:99:2796,308,0:127	1|1:1,138:139:99:3677,390,0:127	1|1:1,115:116:99:3064,321,0:127
11	22364758	.	C	T	13256.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=273;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2278751;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2278751" target="_blank">rs2278751</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.340-35C>T;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=SLC17A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC17A6" target="_blank">SLC17A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263160;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=SLC17A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC17A6" target="_blank">SLC17A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263160;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Vesicular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340C>T;snpeff.Amino_Acid_length=582;snpeff.Gene_Name=SLC17A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC17A6" target="_blank">SLC17A6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263160;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263160;SAVANT_GENE=SLC17A6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC17A6" target="_blank">SLC17A6</a>;SAVANT_INFO=+/41.4kb/12/3.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.340-35C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC17A6+c.340-35C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22364758">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,54:86:99:1414,0,929:127	0|1:53,58:111:99:1610,0,1567:127	1|1:0,76:76:99:2603,228,0:127
11	22646984	.	C	T	3792.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Fanconi_anemia|_complementation_group_F|_603467_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61752920;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61752920" target="_blank">rs61752920</a>;ExAC.Info.AC=783;ExAC.Info.AN=126632;ExAC.Info.AF=6.183e-03;ExAC.Info.AC_Het=760;ExAC.Info.AC_Hom=7;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=73;snpeff.Amino_Acid_Change=c.-73C>T;snpeff.Amino_Acid_length=20;snpeff.Gene_Name=AC103801.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1038012" target="_blank">AC1038012</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=20;snpeff.Gene_Name=AC103801.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1038012" target="_blank">AC1038012</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp125Asn/c.373G>A;snpeff.Amino_Acid_length=374;snpeff.Gene_Name=FANCF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1038012" target="_blank">AC1038012</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327470;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428556:ENST00000327470;SAVANT_GENE=AC103801.2:FANCF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1038012:FANCF" target="_blank">AC1038012:FANCF</a>;SAVANT_INFO=+/0.5kb/1/0.5kb:-/3.3kb/1/3.3kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-73C>T:c.373G>A_p.Asp125Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AC1038012:FANCF+c.-73C>T:c.373G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22646984">View</a>	GT:AD:DP:GQ:PL:TP	0|0:108,0:108:99:0,324,3872:127	0|0:117,0:117:99:0,351,4221:127	0|1:60,60:120:99:1915,0,1862:127
11	22647366	.	G	A	2962.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Fanconi_anemia|_complementation_group_F|_603467_(3);dbSNP139.ID=rs3740615;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740615" target="_blank">rs3740615</a>;ExAC.Info.AC=19933;ExAC.Info.AN=126696;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=16028;ExAC.Info.AC_Hom=1887;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GAS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GAS2" target="_blank">GAS2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=247;snpeff.Amino_Acid_Change=c.*247G>A;snpeff.Amino_Acid_length=20;snpeff.Gene_Name=AC103801.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GAS2" target="_blank">GAS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428556;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=10;snpeff.Amino_Acid_Change=c.-10C>T;snpeff.Amino_Acid_length=374;snpeff.Gene_Name=FANCF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GAS2" target="_blank">GAS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327470;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=374;snpeff.Gene_Name=FANCF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GAS2" target="_blank">GAS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000327470;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428556:ENST00000327470;SAVANT_GENE=AC103801.2:FANCF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC1038012:FANCF" target="_blank">AC1038012:FANCF</a>;SAVANT_INFO=+/0.5kb/1/0.5kb:-/3.3kb/1/3.3kb;SAVANT_LOC=3UTR:5UTR;SAVANT_HGVS=c.*247G>A:c.-10C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU:5PU;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AC1038012:FANCF+c.*247G>A:c.-10C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22647366">View</a>	GT:AD:DP:GQ:PL:TP	0|0:144,0:144:99:0,433,5010:127	0|0:170,0:170:99:0,511,6180:127	0|1:64,56:120:99:1500,0,1828:127
11	22696451	.	A	G	19307.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs922571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=922571" target="_blank">rs922571</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=78567;ExAC.Info.AN=126684;ExAC.Info.AF=0.620;ExAC.Info.AC_Het=27677;ExAC.Info.AC_Hom=25376;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggA/ggG;snpeff.Amino_Acid_Change=p.Gly12Gly/c.36A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=GAS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GAS2" target="_blank">GAS2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278187;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454584;SAVANT_GENE=GAS2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GAS2" target="_blank">GAS2</a>;SAVANT_INFO=+/146.4kb/8/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.36A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GAS2+c.36A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22696451">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:2581,225,0:127	1|1:0,74:74:99:2608,222,0:127	1|1:0,86:86:99:2926,258,0:127
11	22868937	.	G	A	2560.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=80;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2302423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2302423" target="_blank">rs2302423</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.484+9027G>A;snpeff.Gene_Name=RP11-17A1.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-17A13" target="_blank">RP11-17A13</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000499625;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=119;snpeff.Amino_Acid_Change=c.*119C>T;snpeff.Amino_Acid_length=68;snpeff.Gene_Name=CCDC179;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-17A13" target="_blank">RP11-17A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532798;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-17A13" target="_blank">RP11-17A13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-17A13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22868937">View</a>	GT:AD:DP:GQ:PL:TP	0|1:5,12:17:99:413,0,134:72	1|0:14,25:39:99:793,0,383:72	0|0:24,0:24:72:0,72,843:72
11	22880918	.	T	G	5514.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs3213707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3213707" target="_blank">rs3213707</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.90+80A>C;snpeff.Amino_Acid_length=68;snpeff.Gene_Name=CCDC179;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC179" target="_blank">CCDC179</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532798;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.484+21008T>G;snpeff.Gene_Name=RP11-17A1.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC179" target="_blank">CCDC179</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000499625;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.91T>G;snpeff.Amino_Acid_length=68;snpeff.Gene_Name=CCDC179;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC179" target="_blank">CCDC179</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532798;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.91T>G;snpeff.Amino_Acid_length=68;snpeff.Gene_Name=CCDC179;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC179" target="_blank">CCDC179</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532798;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC179" target="_blank">CCDC179</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC179+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22880918">View</a>	GT:AD:DP:GQ:PL:TP	1|0:15,31:46:99:883,0,364:115	0|1:33,15:48:99:400,0,967:115	1|1:1,39:40:99:1427,115,0:115
11	22881002	.	C	T	4213.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3213706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3213706" target="_blank">rs3213706</a>;ExAC.Info.AC=6729;ExAC.Info.AN=15666;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=3230;ExAC.Info.AC_Hom=1569;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.484+21092C>T;snpeff.Gene_Name=RP11-17A1.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-17A13" target="_blank">RP11-17A13</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000499625;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.86C>T;snpeff.Amino_Acid_length=68;snpeff.Gene_Name=CCDC179;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-17A13" target="_blank">RP11-17A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532798;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.86C>T;snpeff.Amino_Acid_length=68;snpeff.Gene_Name=CCDC179;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-17A13" target="_blank">RP11-17A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532798;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg29Gln/c.86G>A;snpeff.Amino_Acid_length=68;snpeff.Gene_Name=CCDC179;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-17A13" target="_blank">RP11-17A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532798;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-17A13" target="_blank">RP11-17A13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-17A13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22881002">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,20:60:99:493,0,1103:127	1|0:20,44:64:99:1334,0,527:127	0|0:45,0:45:99:0,135,1530:127
11	22881788	.	CT	C	5829.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=490;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs142543344;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=142543344" target="_blank">rs142543344</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.45+134delA;snpeff.Amino_Acid_length=68;snpeff.Gene_Name=CCDC179;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC179" target="_blank">CCDC179</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532798;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.484+21879delT;snpeff.Gene_Name=RP11-17A1.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC179" target="_blank">CCDC179</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000499625;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC179" target="_blank">CCDC179</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC179+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:22881788">View</a>	GT:AD:DP:GQ:PL:TP	0|0:152,0:152:99:0,457,6059:127	0|1:94,88:182:99:2938,0,3195:127	0|0:156,0:156:99:0,469,6227:127
11	24750842	.	G	A	13467.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7128434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7128434" target="_blank">rs7128434</a>;ExAC.Info.AC=65439;ExAC.Info.AN=126526;ExAC.Info.AF=0.517;ExAC.Info.AC_Het=29658;ExAC.Info.AC_Hom=17391;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.180+10G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.181G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.181G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.181G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.181G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.181G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.181G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.181G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.181G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.181G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336930;SAVANT_GENE=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;SAVANT_INFO=+/583.9kb/12/3.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.180+10G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP2+c.180+10G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:24750842">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,48:119:99:1179,0,1867:127	1|1:0,144:144:99:4699,432,0:127	0|0:133,0:133:99:0,399,4424:127
11	24759855	.	G	A	9498.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=497;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1564992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1564992" target="_blank">rs1564992</a>;ExAC.Info.AC=44618;ExAC.Info.AN=126614;ExAC.Info.AF=0.352;ExAC.Info.AC_Het=27255;ExAC.Info.AC_Hom=8549;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.333+7G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.334G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336930;SAVANT_GENE=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;SAVANT_INFO=+/583.9kb/12/3.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.333+7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP2+c.333+7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:24759855">View</a>	GT:AD:DP:GQ:PL:TP	1|0:74,76:150:99:1980,0,2121:127	0|0:179,0:179:99:0,538,6533:127	1|0:92,76:168:99:1986,0,2600:127
11	24784862	.	A	T	8542.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2716532;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2716532" target="_blank">rs2716532</a>;ExAC.Info.AC=80523;ExAC.Info.AN=126460;ExAC.Info.AF=0.637;ExAC.Info.AC_Het=27882;ExAC.Info.AC_Hom=25609;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.396+8A>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397A>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397A>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397A>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397A>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397A>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397A>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397A>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397A>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397A>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397A>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336930;SAVANT_GENE=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;SAVANT_INFO=+/583.9kb/12/3.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.396+8A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP2+c.396+8A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:24784862">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1591,153,0:127	1|0:23,23:46:99:701,0,683:127	1|1:0,53:53:99:1795,159,0:127
11	24998252	.	CAAAAAA	C	6046.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=111;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.597+42_597+47delAAAAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_603delAAAAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_603delAAAAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_603delAAAAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_603delAAAAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_603delAAAAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_603delAAAAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_603delAAAAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_603delAAAAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_603delAAAAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000336930;SAVANT_GENE=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;SAVANT_INFO=+/583.9kb/12/3.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.597+60_597+65del6;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP2+c.597+60_597+65del6+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:24998252">View</a>	GT:AD:DP:GQ:PL	./1:2,18:28:99:656,178,611	./1:1,30:44:99:1055,312,663	./1:4,19:39:99:847,270,756
11	24998252	.	CAAAAAA	CAAA	6046.89	PASS	InheritancePattern=Normal;AC=3;AF=1.00;AN=3;DP=111;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./1;NA12891_GT=./1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.597+45_597+47delAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_600delAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_600delAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_600delAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_600delAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_600delAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_600delAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_600delAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_600delAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.598_600delAAA;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000336930;SAVANT_GENE=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;SAVANT_INFO=+/583.9kb/12/3.6kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.597+63_597+65delAAA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP2+c.597+63_597+65delAAA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:24998252">View</a>	GT:AD:DP:GQ:PL	./1:2,8:28:99:656,301,282	./1:1,13:44:99:1055,544,483	./1:4,16:39:99:847,321,318
11	25098938	.	G	C	26178.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=646;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7930185;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7930185" target="_blank">rs7930185</a>;ExAC.Info.AC=55464;ExAC.Info.AN=126704;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=28875;ExAC.Info.AC_Hom=13292;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gag/Cag;snpeff.Amino_Acid_Change=p.Glu308Gln/c.922G>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336930;SAVANT_GENE=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;SAVANT_INFO=+/583.9kb/12/3.6kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.922G>C_p.Glu308Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP2+c.922G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:25098938">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,195:196:99:6342,578,0:127	1|0:168,116:284:99:2871,0,4434:127	1|0:91,75:166:99:2068,0,2517:127
11	25100229	.	G	A	10186.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=189;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs10500994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10500994" target="_blank">rs10500994</a>;ExAC.Info.AC=54770;ExAC.Info.AN=126670;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=28332;ExAC.Info.AC_Hom=12697;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=25;snpeff.Amino_Acid_Change=c.*25G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000336930;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000336930;SAVANT_GENE=LUZP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LUZP2" target="_blank">LUZP2</a>;SAVANT_INFO=+/583.9kb/12/3.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*25G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LUZP2+c.*25G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:25100229">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1690,144,0:127	1|0:42,33:75:99:1023,0,1311:127	1|0:30,36:66:99:1041,0,926:127
11	26353643	.	T	A	1295.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=55;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1531394;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1531394" target="_blank">rs1531394</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=180;snpeff.Amino_Acid_Change=c.-180T>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-180T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.-180T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26353643">View</a>	GT:AD:DP:GQ:PL:TP	0|1:7,8:15:99:235,0,188:45	1|0:12,13:25:99:330,0,355:45	0|0:15,0:15:45:0,45,537:45
11	26353991	.	TA	TAA	291.43	PASS	InheritancePattern=Normal;AC=2;AF=0.500;AN=4;DP=28;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./1;NA12891_GT=./0;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.46+125_46+126insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47_48insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.46+139dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.46+139dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26353991">View</a>	GT:AD:DP:GQ:PL	0/1:5,1:6:5:5,0,104	./0:7,3:13:14:33,14,177	./1:2,3:9:25:84,39,103
11	26353991	.	TA	T	291.43	PASS	InheritancePattern=notInChild;AC=2;AF=0.500;AN=4;DP=28;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./1;NA12891_GT=0/1;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.46+124delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47delA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.46+139delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.46+139delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26353991">View</a>	GT:AD:DP:GQ:PL	./0:5,0:6:5:5,28,185	0/1:7,3:13:14:33,0,185	./1:2,4:9:25:84,25,79
11	26481611	.	G	A	34323.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=486;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs2047099;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2047099" target="_blank">rs2047099</a>;ExAC.Info.AC=12585;ExAC.Info.AN=13114;ExAC.Info.AF=0.960;ExAC.Info.AC_Het=333;ExAC.Info.AC_Hom=5433;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.314-2966G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.314G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.314-2966G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.314-2966G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26481611">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,160:160:99:5073,481,0:127	1|1:0,169:169:99:5607,507,0:127	1|1:0,157:157:99:5045,472,0:127
11	26552702	.	T	C	46047.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=499;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs293937;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=293937" target="_blank">rs293937</a>;ExAC.Info.AC=126141;ExAC.Info.AN=126592;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=394;ExAC.Info.AC_Hom=61967;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.738-50T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.738T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.738-50T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.738-50T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26552702">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,168:168:99:7470,509,0:127	1|1:0,194:194:99:7938,584,0:127	1|1:0,137:137:99:6149,415,0:127
11	26563464	.	A	T	7437.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs410036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=410036" target="_blank">rs410036</a>;ExAC.Info.AC=93800;ExAC.Info.AN=126588;ExAC.Info.AF=0.741;ExAC.Info.AC_Het=23348;ExAC.Info.AC_Hom=34328;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1033-30A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1033A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1033-30A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.1033-30A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26563464">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1720,165,0:116	1|0:28,11:39:99:280,0,866:116	1|1:0,39:39:99:1346,117,0:116
11	26568966	.	A	G	30926.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=497;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs2663168;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2663168" target="_blank">rs2663168</a>;ExAC.Info.AC=86981;ExAC.Info.AN=126690;ExAC.Info.AF=0.687;ExAC.Info.AC_Het=26807;ExAC.Info.AC_Hom=30052;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu386Leu/c.1158A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1158A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.1158A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26568966">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,154:154:99:5294,463,0:127	1|0:105,103:208:99:2917,0,2896:127	1|1:0,135:135:99:4987,406,0:127
11	26574782	.	TG	T	8558.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=150;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs59938249;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=59938249" target="_blank">rs59938249</a>;ExAC.Info.AC=65807;ExAC.Info.AN=122548;ExAC.Info.AF=0.537;ExAC.Info.AC_Het=45328;ExAC.Info.AC_Hom=7645;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1290-13delG;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1290delG;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1290delG;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1290delG;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1290-13delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.1290-13delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26574782">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,57:59:99:1510,122,0:34	1|1:3,35:38:34:883,34,0:34	1|1:2,51:53:99:1340,102,0:34
11	26584625	.	C	A	19638.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs444178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=444178" target="_blank">rs444178</a>;ExAC.Info.AC=81003;ExAC.Info.AN=126614;ExAC.Info.AF=0.640;ExAC.Info.AC_Het=27813;ExAC.Info.AC_Hom=26059;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.925+38G>T;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=MUC15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC15" target="_blank">MUC15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529533;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1447+3299C>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC15" target="_blank">MUC15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1448C>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC15" target="_blank">MUC15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1448C>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MUC15" target="_blank">MUC15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737:ENST00000436318;SAVANT_GENE=ANO3:MUC15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3:MUC15" target="_blank">ANO3:MUC15</a>;SAVANT_INFO=+/331.9kb/27/6.6kb:-/8.2kb/4/3.3kb;SAVANT_LOC=In14/15:In3/4;SAVANT_HGVS=c.1447+3299C>A:c.925+38G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3:MUC15+c.1447+3299C>A:c.925+38G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26584625">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,84:84:99:2951,252,0:127	1|0:65,36:101:99:954,0,2064:127	1|1:0,135:135:99:4577,404,0:127
11	26586801	.	G	A	28588.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=471;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs15783;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=15783" target="_blank">rs15783</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=79956;ExAC.Info.AN=126512;ExAC.Info.AF=0.632;ExAC.Info.AC_Het=27449;ExAC.Info.AC_Hom=25301;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1447+5475G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1448G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1448G>A;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aTc;snpeff.Amino_Acid_Change=p.Thr229Ile/c.686C>T;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=MUC15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529533;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737:ENST00000436318;SAVANT_GENE=ANO3:MUC15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3:MUC15" target="_blank">ANO3:MUC15</a>;SAVANT_INFO=+/331.9kb/27/6.6kb:-/8.2kb/4/3.3kb;SAVANT_LOC=In14/15:Ex2;SAVANT_HGVS=c.1447+5475G>A:c.686C>T_p.Thr229Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3:MUC15+c.1447+5475G>A:c.686C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26586801">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,144:144:99:4759,433,0:127	1|0:98,92:190:99:2559,0,2847:127	1|1:0,137:137:99:4763,411,0:127
11	26586990	.	T	C	18874.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=868;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72877805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72877805" target="_blank">rs72877805</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=29;ExAC.Info.AN=126702;ExAC.Info.AF=2.289e-04;ExAC.Info.AC_Het=29;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1447+5664T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1448T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1448T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn166Ser/c.497A>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=MUC15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529533;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737:ENST00000436318;SAVANT_GENE=ANO3:MUC15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3:MUC15" target="_blank">ANO3:MUC15</a>;SAVANT_INFO=+/331.9kb/27/6.6kb:-/8.2kb/4/3.3kb;SAVANT_LOC=In14/15:Ex2;SAVANT_HGVS=c.1447+5664T>C:c.497A>G_p.Asn166Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=INTR:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3:MUC15+c.1447+5664T>C:c.497A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26586990">View</a>	GT:AD:DP:GQ:PL:TP	1|0:154,133:287:99:4031,0,4198:127	0|0:326,1:327:99:0,943,11599:127	1|0:124,130:254:99:3824,0,3642:127
11	26587133	.	T	C	46411.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=783;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs293980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=293980" target="_blank">rs293980</a>;ExAC.Info.AC=92017;ExAC.Info.AN=126696;ExAC.Info.AF=0.726;ExAC.Info.AC_Het=24083;ExAC.Info.AC_Hom=33873;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1447+5807T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1448T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1448T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser118Ser/c.354A>G;snpeff.Amino_Acid_length=361;snpeff.Gene_Name=MUC15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529533;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737:ENST00000436318;SAVANT_GENE=ANO3:MUC15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3:MUC15" target="_blank">ANO3:MUC15</a>;SAVANT_INFO=+/331.9kb/27/6.6kb:-/8.2kb/4/3.3kb;SAVANT_LOC=In14/15:Ex2;SAVANT_HGVS=c.1447+5807T>C:c.354A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3:MUC15+c.1447+5807T>C:c.354A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26587133">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,244:244:99:8212,733,0:127	1|0:155,141:296:99:4026,0,4350:127	1|1:0,243:243:99:8331,730,0:127
11	26619872	.	T	C	3907.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=392;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs7112022;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7112022" target="_blank">rs7112022</a>;ExAC.Info.AC=40629;ExAC.Info.AN=126574;ExAC.Info.AF=0.321;ExAC.Info.AC_Het=26190;ExAC.Info.AC_Hom=6748;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1448-40T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1448T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1448T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1448-40T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.1448-40T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26619872">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,406,4605:127	0|1:70,63:133:99:1968,0,2186:127	0|0:124,0:124:99:0,372,4406:127
11	26656563	.	C	T	3446.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs7946841;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7946841" target="_blank">rs7946841</a>;ExAC.Info.AC=48236;ExAC.Info.AN=126704;ExAC.Info.AF=0.381;ExAC.Info.AC_Het=28926;ExAC.Info.AC_Hom=9645;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1989C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1989C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1989C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1989C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1989C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe663Phe/c.1989C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.1989C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.1989C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26656563">View</a>	GT:AD:DP:GQ:PL:TP	0|0:92,0:92:99:0,277,3225:127	0|1:55,57:112:99:1742,0,1673:127	0|0:102,0:102:99:0,306,3502:127
11	26663394	.	A	G	6507.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=520;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs10835040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10835040" target="_blank">rs10835040</a>;ExAC.Info.AC=52491;ExAC.Info.AN=126648;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=29258;ExAC.Info.AC_Hom=11361;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2142-49A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2142A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2142A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2142A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2142A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2142A>G;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2142-49A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.2142-49A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26663394">View</a>	GT:AD:DP:GQ:PL:TP	0|0:147,0:147:99:0,442,5263:127	0|1:91,112:203:99:3272,0,2886:127	0|0:170,0:170:99:0,511,6190:127
11	26663595	.	C	CA	3843.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=521;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs146445511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146445511" target="_blank">rs146445511</a>;ExAC.Info.AC=3416;ExAC.Info.AN=126686;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=3277;ExAC.Info.AC_Hom=66;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2275+20_2275+21insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2276_2277insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2276_2277insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2276_2277insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2276_2277insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2276_2277insA;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2275+20dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.2275+20dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26663595">View</a>	GT:AD:DP:GQ:PL:TP	0|0:170,0:170:99:0,512,6319:127	0|0:197,0:197:99:0,593,7381:127	0|1:90,64:154:99:1945,0,2868:127
11	26677796	.	A	T	4478.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=496;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs72881793;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72881793" target="_blank">rs72881793</a>;ExAC.Info.AC=3411;ExAC.Info.AN=126662;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=3266;ExAC.Info.AC_Hom=66;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2657+44A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2658A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2658A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2658A>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.2657+44A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.2657+44A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26677796">View</a>	GT:AD:DP:GQ:PL:TP	0|0:153,0:153:99:0,460,5167:127	0|0:205,0:205:99:0,616,7426:127	0|1:61,77:138:99:2258,0,1834:127
11	26677867	.	T	C	5950.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs10835050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10835050" target="_blank">rs10835050</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2658-56T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2658T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2658T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2658T>C;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.2658-56T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.2658-56T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26677867">View</a>	GT:AD:DP:GQ:PL:TP	0|0:110,0:110:99:0,331,3899:127	0|1:76,58:134:99:1688,0,2429:127	0|1:77,46:123:99:1307,0,2484:127
11	26677947	.	C	T	7036.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Dystonia_24|_615034_(3)|Dystonia_24|_615034_(3);dbSNP139.ID=rs10835051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10835051" target="_blank">rs10835051</a>;ExAC.Info.AC=80439;ExAC.Info.AN=126700;ExAC.Info.AF=0.635;ExAC.Info.AC_Het=27581;ExAC.Info.AC_Hom=26400;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2682C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2682C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2682C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro894Pro/c.2682C>T;snpeff.Amino_Acid_length=981;snpeff.Gene_Name=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256737;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256737;SAVANT_GENE=ANO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ANO3" target="_blank">ANO3</a>;SAVANT_INFO=+/331.9kb/27/6.6kb;SAVANT_LOC=Ex26;SAVANT_HGVS=c.2682C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ANO3+c.2682C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26677947">View</a>	GT:AD:DP:GQ:PL:TP	0|0:153,0:153:99:0,459,5108:127	0|1:94,73:167:99:1998,0,2852:127	0|1:78,54:132:99:1540,0,2279:127
11	26694979	.	A	G	19533.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=548;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs4369354;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4369354" target="_blank">rs4369354</a>;ExAC.Info.AC=57396;ExAC.Info.AN=125578;ExAC.Info.AF=0.457;ExAC.Info.AC_Het=29988;ExAC.Info.AC_Hom=13527;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1677A>G;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1677A>G;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1677A>G;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys559Cys/c.1677T>C;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396005;SAVANT_GENE=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;SAVANT_INFO=-/55.0kb/15/6.3kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1677T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC5A12+c.1677T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26694979">View</a>	GT:AD:DP:GQ:PL:TP	0|1:88,77:165:99:2155,0,2361:127	1|1:0,190:190:99:6507,571,0:127	0|0:193,0:193:99:0,580,6163:127
11	26702664	.	C	T	7793.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10734383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10734383" target="_blank">rs10734383</a>;ExAC.Info.AC=124814;ExAC.Info.AN=125122;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=300;ExAC.Info.AC_Hom=62027;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1413C>T;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1413C>T;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu471Leu/c.1413G>A;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396005;SAVANT_GENE=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;SAVANT_INFO=-/55.0kb/15/6.3kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1413G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC5A12+c.1413G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26702664">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:631,60,0:104	1|1:0,39:39:99:1300,117,0:104	1|1:0,35:35:99:1201,105,0:104
11	26705310	.	A	G	1054.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3924551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3924551" target="_blank">rs3924551</a>;ExAC.Info.AC=60747;ExAC.Info.AN=123098;ExAC.Info.AF=0.493;ExAC.Info.AC_Het=19220;ExAC.Info.AC_Hom=11133;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1302A>G;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1302A>G;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn434Asn/c.1302T>C;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396005;SAVANT_GENE=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;SAVANT_INFO=-/55.0kb/15/6.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1302T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC5A12+c.1302T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26705310">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,1855:123	0|1:26,19:45:99:545,0,721:123	0|0:41,0:41:99:0,123,1422:123
11	26732923	.	A	G	19929.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs4322349;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4322349" target="_blank">rs4322349</a>;ExAC.Info.AC=38886;ExAC.Info.AN=126530;ExAC.Info.AF=0.307;ExAC.Info.AC_Het=25111;ExAC.Info.AC_Hom=6535;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.406-18T>C;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406A>G;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406A>G;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396005;SAVANT_GENE=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;SAVANT_INFO=-/55.0kb/15/6.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.406-18T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC5A12+c.406-18T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26732923">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,102:102:99:3456,306,0:127	1|0:68,46:114:99:1234,0,2012:127	1|1:0,94:94:99:3293,282,0:127
11	26734209	.	C	T	75569.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1022;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10742156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10742156" target="_blank">rs10742156</a>;ExAC.Info.AC=113081;ExAC.Info.AN=126702;ExAC.Info.AF=0.892;ExAC.Info.AC_Het=9974;ExAC.Info.AC_Hom=51521;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.384C>T;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.384C>T;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr128Thr/c.384G>A;snpeff.Amino_Acid_length=618;snpeff.Gene_Name=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000396005;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000396005;SAVANT_GENE=SLC5A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A12" target="_blank">SLC5A12</a>;SAVANT_INFO=-/55.0kb/15/6.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.384G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC5A12+c.384G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:26734209">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,293:293:99:10275,881,0:127	1|1:0,385:385:99:13154,1157,0:127	1|1:0,344:344:99:11848,1033,0:127
11	27077118	.	C	T	24909.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=297;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10767598;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10767598" target="_blank">rs10767598</a>;ExAC.Info.AC=126690;ExAC.Info.AN=126696;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=6;ExAC.Info.AC_Hom=63324;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-1L12.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1L123" target="_blank">RP11-1L123</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser47Ser/c.141C>T;snpeff.Amino_Acid_length=387;snpeff.Gene_Name=BBOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1L123" target="_blank">RP11-1L123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528583;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263182;SAVANT_GENE=BBOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BBOX1" target="_blank">BBOX1</a>;SAVANT_INFO=+/86.8kb/9/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.141C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BBOX1+c.141C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27077118">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,76:76:99:2654,228,0:127	1|1:0,118:118:99:3960,354,0:127	1|1:0,103:103:99:3479,309,0:127
11	27114788	.	C	T	16946.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3183973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3183973" target="_blank">rs3183973</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=29799;ExAC.Info.AN=126680;ExAC.Info.AF=0.235;ExAC.Info.AC_Het=20873;ExAC.Info.AC_Hom=4439;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.668-26579G>A;snpeff.Gene_Name=RP11-1L12.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1L123" target="_blank">RP11-1L123</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530430;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His136His/c.408C>T;snpeff.Amino_Acid_length=387;snpeff.Gene_Name=BBOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1L123" target="_blank">RP11-1L123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528583;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263182;SAVANT_GENE=BBOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BBOX1" target="_blank">BBOX1</a>;SAVANT_INFO=+/86.8kb/9/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.408C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BBOX1+c.408C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27114788">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,59:136:99:1491,0,2211:127	1|1:0,171:171:99:5693,513,0:127	0|0:138,0:138:99:0,415,4756:127
11	27147270	.	G	A	15685.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=488;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1044273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1044273" target="_blank">rs1044273</a>;ExAC.Info.AC=18693;ExAC.Info.AN=126676;ExAC.Info.AF=0.148;ExAC.Info.AC_Het=15185;ExAC.Info.AC_Hom=1568;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.667+25327C>T;snpeff.Gene_Name=RP11-1L12.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1L123" target="_blank">RP11-1L123</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530430;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val302Val/c.906G>A;snpeff.Amino_Acid_length=387;snpeff.Gene_Name=BBOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1L123" target="_blank">RP11-1L123</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528583;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263182;SAVANT_GENE=BBOX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BBOX1" target="_blank">BBOX1</a>;SAVANT_INFO=+/86.8kb/9/1.9kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.906G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BBOX1+c.906G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27147270">View</a>	GT:AD:DP:GQ:PL:TP	0|1:84,73:157:99:1819,0,2342:127	1|1:0,173:173:99:5632,520,0:127	0|0:158,0:158:99:0,474,5637:127
11	27362359	.	T	G	2918.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17244028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17244028" target="_blank">rs17244028</a>;ExAC.Info.AC=33240;ExAC.Info.AN=126700;ExAC.Info.AF=0.262;ExAC.Info.AC_Het=23102;ExAC.Info.AC_Hom=5047;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791T>G;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=CCDC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC34" target="_blank">CCDC34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328697;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791T>G;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=CCDC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC34" target="_blank">CCDC34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328697;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791T>G;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=CCDC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC34" target="_blank">CCDC34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328697;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.791T>G;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=CCDC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC34" target="_blank">CCDC34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328697;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gCa;snpeff.Amino_Acid_Change=p.Glu264Ala/c.791A>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=CCDC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC34" target="_blank">CCDC34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328697;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328697;SAVANT_GENE=CCDC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC34" target="_blank">CCDC34</a>;SAVANT_INFO=-/25.3kb/6/2.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.791A>C_p.Glu264Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC34+c.791A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27362359">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2277:127	0|0:103,0:103:99:0,310,3647:127	0|1:28,42:70:99:1478,0,826:127
11	27379127	.	C	G	12441.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=169;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3741407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3741407" target="_blank">rs3741407</a>;ExAC.Info.AC=37525;ExAC.Info.AN=126684;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=25591;ExAC.Info.AC_Hom=5912;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.360-39G>C;snpeff.Amino_Acid_length=373;snpeff.Gene_Name=CCDC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC34" target="_blank">CCDC34</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328697;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328697;SAVANT_GENE=CCDC34;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC34" target="_blank">CCDC34</a>;SAVANT_INFO=-/25.3kb/6/2.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.360-39G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC34+c.360-39G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27379127">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1616,132,0:127	1|1:0,66:66:99:2453,198,0:127	1|0:25,34:59:99:974,0,795:127
11	27389681	.	C	T	11891.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=549;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72887882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72887882" target="_blank">rs72887882</a>;ExAC.Info.AC=1577;ExAC.Info.AN=126704;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=1533;ExAC.Info.AC_Hom=21;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2589C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser863Ser/c.2589G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379214;SAVANT_GENE=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;SAVANT_INFO=-/106.8kb/18/5.2kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2589G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR4+c.2589G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27389681">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,76:157:99:2122,0,2426:127	0|0:208,1:209:99:0,591,7549:127	1|0:81,102:183:99:3046,0,2380:127
11	27390089	.	T	C	45765.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=547;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2447997;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2447997" target="_blank">rs2447997</a>;ExAC.Info.AC=126700;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=63330;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2181T>C;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys727Lys/c.2181A>G;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379214;SAVANT_GENE=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;SAVANT_INFO=-/106.8kb/18/5.2kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.2181A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR4+c.2181A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27390089">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:6344,508,0:127	1|1:0,191:191:99:7189,574,0:127	1|1:0,187:187:99:6783,562,0:127
11	27393813	.	G	A	31727.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2448001;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2448001" target="_blank">rs2448001</a>;ExAC.Info.AC=49018;ExAC.Info.AN=126678;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=29345;ExAC.Info.AC_Hom=9787;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1495+17C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379214;SAVANT_GENE=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;SAVANT_INFO=-/106.8kb/18/5.2kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1495+17C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR4+c.1495+17C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27393813">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,154:156:99:4855,419,0:127	1|1:0,177:177:99:5875,532,0:127	1|0:75,92:167:99:2629,0,2291:127
11	27401743	.	A	T	15037.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2472623;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2472623" target="_blank">rs2472623</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.971+75T>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_11];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.972A>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379214;SAVANT_GENE=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;SAVANT_INFO=-/106.8kb/18/5.2kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.971+75T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR4+c.971+75T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27401743">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,63:63:99:2071,189,0:127	1|1:0,87:87:99:2891,261,0:127	1|1:0,55:55:99:1979,165,0:127
11	27406844	.	G	A	18389.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=243;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs6484295;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6484295" target="_blank">rs6484295</a>;ExAC.Info.AC=41546;ExAC.Info.AN=126680;ExAC.Info.AF=0.328;ExAC.Info.AC_Het=27142;ExAC.Info.AC_Hom=7160;snpeff.Effect=sequence_feature[repeat:LRR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.573G>A;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser191Ser/c.573C>T;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379214;SAVANT_GENE=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;SAVANT_INFO=-/106.8kb/18/5.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.573C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR4+c.573C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27406844">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:1971,186,0:127	1|1:2,102:104:99:3434,263,0:127	1|0:32,45:77:99:1284,0,890:127
11	27414071	.	GA	G	292.86	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=./0;NA12891_GT=0/1;dbSNP139.ID=rs3085383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3085383" target="_blank">rs3085383</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.258-7delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258delT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000379214;SAVANT_GENE=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;SAVANT_INFO=-/106.8kb/18/5.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.258-7delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR4+c.258-7delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27414071">View</a>	GT:AD:DP:GQ:PL	./0:25,2:36:95:95,174,950	0/1:27,9:42:9:19,0,830	./0:22,5:31:5:5,33,653
11	27414071	.	GA	GAA	292.86	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=109;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=./0;dbSNP139.ID=rs3085383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3085383" target="_blank">rs3085383</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.258-7_258-8insT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LRR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insA;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258_259insT;snpeff.Amino_Acid_length=951;snpeff.Gene_Name=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379214;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000379214;SAVANT_GENE=LGR4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LGR4" target="_blank">LGR4</a>;SAVANT_INFO=-/106.8kb/18/5.2kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.258-7dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LGR4+c.258-7dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27414071">View</a>	GT:AD:DP:GQ:PL	0/1:25,9:36:95:95,0,517	./0:27,6:42:9:19,9,619	0/1:22,4:31:5:5,0,486
11	27523164	.	T	TGAAGTTAAAATTTCAGGC	13776.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=234;MQ=71.39;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs151336878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=151336878" target="_blank">rs151336878</a>;ExAC.Info.AC=85663;ExAC.Info.AN=126570;ExAC.Info.AF=0.677;ExAC.Info.AC_Het=21797;ExAC.Info.AC_Hom=25764;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.157-51_157-52insGCCTGAAATTTTAACTTC;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=LIN7C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN7C" target="_blank">LIN7C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278193;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.157_158insGAAGTTAAAATTTCAGGC;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=LIN7C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN7C" target="_blank">LIN7C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278193;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.157_158insGAAGTTAAAATTTCAGGC;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=LIN7C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN7C" target="_blank">LIN7C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278193;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:L27];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.157_158insGAAGTTAAAATTTCAGGC;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=LIN7C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN7C" target="_blank">LIN7C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278193;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:L27];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.157_158insGAAGTTAAAATTTCAGGC;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=LIN7C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN7C" target="_blank">LIN7C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278193;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:L27];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.157_158insGAAGTTAAAATTTCAGGC;snpeff.Amino_Acid_length=197;snpeff.Gene_Name=LIN7C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN7C" target="_blank">LIN7C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278193;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000278193;SAVANT_GENE=LIN7C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LIN7C" target="_blank">LIN7C</a>;SAVANT_INFO=-/12.2kb/5/4.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.157-69_157-52dup18;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=LIN7C+c.157-69_157-52dup18+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27523164">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,42:84:99:1758,0,1600:127	0|1:47,41:88:99:1648,0,1806:127	1|1:0,62:62:99:3012,198,0:127
11	27528354	.	G	C	8235.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=307;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2242341;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2242341" target="_blank">rs2242341</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2242341" target="_blank">rs2242341</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27528354">View</a>	GT:AD:DP:GQ:PL:TP	0|1:42,53:95:99:1466,0,1247:127	1|0:53,65:118:99:1734,0,1501:127	0|0:94,0:94:99:0,282,3062:127
11	27679662	.	T	C	29926.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2353512;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2353512" target="_blank">rs2353512</a>;ExAC.Info.AC=126566;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=134;ExAC.Info.AC_Hom=63216;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.375-126T>C;snpeff.Gene_Name=BDNF-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF-AS" target="_blank">BDNF-AS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000499008;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF-AS" target="_blank">BDNF-AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438929;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.696T>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF-AS" target="_blank">BDNF-AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438929;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala232Ala/c.696A>G;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF-AS" target="_blank">BDNF-AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438929;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438929;SAVANT_GENE=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=-/46.2kb/3/4.1kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.696A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+c.696A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27679662">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3534,283,0:127	1|1:0,134:134:99:4697,402,0:127	1|1:0,113:113:99:3889,340,0:127
11	27681856	.	C	T	4647.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs57083135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=57083135" target="_blank">rs57083135</a>;ExAC.Info.AC=206;ExAC.Info.AN=15822;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=174;ExAC.Info.AC_Hom=7;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.654+1081C>T;snpeff.Gene_Name=BDNF-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF-AS" target="_blank">BDNF-AS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000499008;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.226-1724G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF-AS" target="_blank">BDNF-AS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438929;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438929;SAVANT_GENE=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=-/46.2kb/3/4.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.226-1724G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+c.226-1724G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27681856">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,15:53:99:365,0,1144:127	1|0:36,51:87:99:1510,0,1038:127	0|0:66,0:66:99:0,198,2494:127
11	27695910	.	C	A	5812.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=660;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10835210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10835210" target="_blank">rs10835210</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-58-21G>T;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438929;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.655-934C>A;snpeff.Gene_Name=BDNF-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000499008;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438929;SAVANT_GENE=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=-/46.2kb/3/4.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-79G>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+c.-79G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27695910">View</a>	GT:AD:DP:GQ:PL:TP	0|0:183,0:183:99:0,550,6747:127	0|0:264,0:264:99:0,793,9583:127	0|1:110,103:213:99:2925,0,3417:127
11	27720937	.	C	T	4999.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs66866077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66866077" target="_blank">rs66866077</a>;ExAC.Info.AC=4483;ExAC.Info.AN=125394;ExAC.Info.AF=0.036;ExAC.Info.AC_Het=4269;ExAC.Info.AC_Hom=106;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.148-2868G>A;snpeff.Gene_Name=RP11-587D21.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-587D214" target="_blank">RP11-587D214</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530663;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-59+1581G>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-587D214" target="_blank">RP11-587D214</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438929;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438929;SAVANT_GENE=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=-/46.2kb/3/4.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-25106G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+c.-25106G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27720937">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,34:67:99:899,0,950:127	0|0:102,0:102:99:0,306,3428:127	1|0:24,30:54:99:821,0,753:127
11	27722278	.	G	T	1001.34	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=28;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61888800;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61888800" target="_blank">rs61888800</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.148-4209C>A;snpeff.Gene_Name=RP11-587D21.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-587D214" target="_blank">RP11-587D214</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530663;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-59+240C>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-587D214" target="_blank">RP11-587D214</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438929;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438929;SAVANT_GENE=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=-/46.2kb/3/4.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26447C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+c.-26447C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27722278">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,3:10:56:56,0,187:55	0/1:4,5:9:99:136,0,133:55	0/1:3,6:9:86:179,0,86:55
11	27722298	.	G	T	999.81	PASS	InGeneList;InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=39;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs7944119;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7944119" target="_blank">rs7944119</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.148-4229C>A;snpeff.Gene_Name=RP11-587D21.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-587D214" target="_blank">RP11-587D214</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530663;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-59+220C>A;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-587D214" target="_blank">RP11-587D214</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000438929;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000438929;SAVANT_GENE=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=-/46.2kb/3/4.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-26467C>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+c.-26467C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27722298">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,1:11:7:7,0,273:7	0/1:6,7:13:99:183,0,159:7	0/1:9,6:15:99:155,0,256:7
11	27731983	.	G	A	7660.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=1002;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7934165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7934165" target="_blank">rs7934165</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.148-13914C>T;snpeff.Gene_Name=RP11-587D21.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530663;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27731983">View</a>	GT:AD:DP:GQ:PL:TP	0|0:320,0:320:99:0,962,11341:127	0|0:384,1:385:99:0,1114,13497:127	0|1:159,138:297:99:3849,0,4625:127
11	27734349	.	G	A	18064.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=260;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs12292980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12292980" target="_blank">rs12292980</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.148-16280C>T;snpeff.Gene_Name=RP11-587D21.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530663;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27734349">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2405,201,0:127	1|1:0,107:107:99:3753,322,0:127	1|0:50,36:86:99:958,0,1444:127
11	27734420	.	T	C	13643.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs962369;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=962369" target="_blank">rs962369</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.148-16351A>G;snpeff.Gene_Name=RP11-587D21.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530663;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27734420">View</a>	GT:AD:DP:GQ:PL:TP	0/1:76,39:115:99:974,0,2002:127	0/1:78,86:164:99:2502,0,2198:127	0/1:73,63:136:99:1672,0,1961:127
11	27734474	.	CT	C	1845.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs374691942;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374691942" target="_blank">rs374691942</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.148-16406delA;snpeff.Gene_Name=RP11-587D21.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530663;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27734474">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,17:28:99:219,0,155:127	0/1:13,23:36:99:306,0,204:127	0/1:14,15:29:99:224,0,235:127
11	27734478	.	T	C	134.2	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs962368;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=962368" target="_blank">rs962368</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.148-16409A>G;snpeff.Gene_Name=RP11-587D21.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530663;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27734478">View</a>	GT:AD:DP:GQ:PL:TP	0|0:20,3:23:14:0,14,542:10	0|0:32,4:36:12:0,12,824:10	0|1:18,6:24:74:74,0,389:10
11	27734479	.	T	C	1059.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=87;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=BDNF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.148-16410A>G;snpeff.Gene_Name=RP11-587D21.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530663;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=BDNF" target="_blank">BDNF</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=BDNF+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27734479">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,8:25:99:114,0,423:113	0/1:23,11:34:99:139,0,574:113	0/1:18,10:28:99:161,0,351:113
11	27749725	.	T	C	14019.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=455;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1491850;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1491850" target="_blank">rs1491850</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.148-31656A>G;snpeff.Gene_Name=RP11-587D21.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-587D214" target="_blank">RP11-587D214</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530663;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-587D214" target="_blank">RP11-587D214</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-587D214+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:27749725">View</a>	GT:AD:DP:GQ:PL:TP	0/1:75,85:160:99:2224,0,1805:127	0/1:87,81:168:99:2430,0,2285:127	0/1:64,63:127:99:1788,0,1704:127
11	28045260	.	A	G	2772.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs33937991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33937991" target="_blank">rs33937991</a>;ExAC.Info.AC=29129;ExAC.Info.AN=126620;ExAC.Info.AF=0.230;ExAC.Info.AC_Het=20903;ExAC.Info.AC_Hom=3656;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2614+28T>C;snpeff.Amino_Acid_length=898;snpeff.Gene_Name=KIF18A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF18A" target="_blank">KIF18A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263181;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263181;SAVANT_GENE=KIF18A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF18A" target="_blank">KIF18A</a>;SAVANT_INFO=-/87.5kb/17/3.4kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.2614+28T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF18A+c.2614+28T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:28045260">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1664:127	0|1:30,42:72:99:1405,0,751:127	0|0:63,0:63:99:0,189,2087:127
11	28057957	.	T	C	3505.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=386;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10458896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10458896" target="_blank">rs10458896</a>;ExAC.Info.AC=40586;ExAC.Info.AN=126656;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=26267;ExAC.Info.AC_Hom=7109;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile735Val/c.2203A>G;snpeff.Amino_Acid_length=898;snpeff.Gene_Name=KIF18A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF18A" target="_blank">KIF18A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263181;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263181;SAVANT_GENE=KIF18A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF18A" target="_blank">KIF18A</a>;SAVANT_INFO=-/87.5kb/17/3.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.2203A>G_p.Ile735Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=KIF18A+c.2203A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:28057957">View</a>	GT:AD:DP:GQ:PL:TP	0|0:140,0:140:99:0,420,4418:127	0|1:74,57:131:99:1769,0,2064:127	0|0:115,0:115:99:0,346,4016:127
11	30253641	.	T	C	13887.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Follicle-stimulating_hormone_deficiency|_isolated|_229070_(3);dbSNP139.ID=rs609896;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=609896" target="_blank">rs609896</a>;ExAC.Info.AC=63218;ExAC.Info.AN=126676;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=30832;ExAC.Info.AC_Hom=16048;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.159+33T>C;snpeff.Amino_Acid_length=129;snpeff.Gene_Name=FSHB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FSHB" target="_blank">FSHB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254122;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000417547;SAVANT_GENE=FSHB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FSHB" target="_blank">FSHB</a>;SAVANT_INFO=+/4.2kb/3/1.9kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.159+33T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FSHB+c.159+33T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:30253641">View</a>	GT:AD:DP:GQ:PL:TP	1|0:36,50:86:99:1527,0,1035:127	0|1:59,59:118:99:1847,0,1758:127	1|1:0,96:96:99:3536,289,0:127
11	30255185	.	C	T	9955.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;OMIM_phenotypes.name=Follicle-stimulating_hormone_deficiency|_isolated|_229070_(3);dbSNP139.ID=rs6169;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6169" target="_blank">rs6169</a>;ExAC.Info.AC=65102;ExAC.Info.AN=126690;ExAC.Info.AF=0.514;ExAC.Info.AC_Het=30417;ExAC.Info.AC_Hom=17295;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr76Tyr/c.228C>T;snpeff.Amino_Acid_length=129;snpeff.Gene_Name=FSHB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FSHB" target="_blank">FSHB</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000254122;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000417547;SAVANT_GENE=FSHB;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FSHB" target="_blank">FSHB</a>;SAVANT_INFO=+/4.2kb/3/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.228C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FSHB+c.228C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:30255185">View</a>	GT:AD:DP:GQ:PL:TP	1|0:46,34:80:99:921,0,1389:127	0|1:46,39:85:99:1125,0,1347:127	1|1:0,64:64:99:2208,192,0:127
11	30352473	.	C	CAG	31439.98	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=573;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs35824273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35824273" target="_blank">rs35824273</a>;ExAC.Info.AC=86912;ExAC.Info.AN=126630;ExAC.Info.AF=0.686;ExAC.Info.AC_Het=26067;ExAC.Info.AC_Hom=29566;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=22;snpeff.Amino_Acid_Change=c.-22_-23insAG;snpeff.Amino_Acid_length=260;snpeff.Gene_Name=ARL14EP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL14EP" target="_blank">ARL14EP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000282032;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000282032;SAVANT_GENE=C11orf46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf46" target="_blank">C11orf46</a>;SAVANT_INFO=+/15.2kb/4/2.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-23_-22insAG;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf46+c.-23_-22insAG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:30352473">View</a>	GT:AD:DP:GQ:PL:TP	1|0:98,73:171:99:2764,0,4113:127	0|1:120,110:230:99:4240,0,5034:127	1|1:0,172:172:99:7820,532,0:127
11	30358475	.	A	T	33889.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=508;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1222206;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1222206" target="_blank">rs1222206</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=133;snpeff.Amino_Acid_Change=c.*133A>T;snpeff.Amino_Acid_length=260;snpeff.Gene_Name=ARL14EP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARL14EP" target="_blank">ARL14EP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000282032;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000282032;SAVANT_GENE=C11orf46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf46" target="_blank">C11orf46</a>;SAVANT_INFO=+/15.2kb/4/2.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*133A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf46+c.*133A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:30358475">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,174:174:99:5668,523,0:127	1|1:0,179:179:99:6253,538,0:127	1|1:0,155:155:99:5288,466,0:127
11	30900263	.	TA	T	805.95	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=52;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs5790842;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5790842" target="_blank">rs5790842</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5225-6delT;snpeff.Amino_Acid_length=1783;snpeff.Gene_Name=DCDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC1" target="_blank">DCDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000597505;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC1" target="_blank">DCDC1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCDC1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:30900263">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,10:11:7:149,7,0:7	1|0:18,7:25:83:83,0,365:7	1|0:8,8:16:99:120,0,149:7
11	30902893	.	T	C	6911.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs273613;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=273613" target="_blank">rs273613</a>;ExAC.Info.AC=79489;ExAC.Info.AN=124970;ExAC.Info.AF=0.636;ExAC.Info.AC_Het=27271;ExAC.Info.AC_Hom=25766;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.5074-38A>G;snpeff.Amino_Acid_length=1783;snpeff.Gene_Name=DCDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC1" target="_blank">DCDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000597505;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC1" target="_blank">DCDC1</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCDC1+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:30902893">View</a>	GT:AD:DP:GQ:PL:TP	1|0:61,55:116:99:1390,0,1706:127	0|0:108,0:108:99:0,324,3569:127	1|0:37,53:90:99:1535,0,975:127
11	30965855	.	A	T	9937.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=522;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs273605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=273605" target="_blank">rs273605</a>;ExAC.Info.AC=12865;ExAC.Info.AN=20484;ExAC.Info.AF=0.628;ExAC.Info.AC_Het=3726;ExAC.Info.AC_Hom=3751;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2715+8137T>A;snpeff.Amino_Acid_length=1783;snpeff.Gene_Name=DCDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC1" target="_blank">DCDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000597505;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339794;SAVANT_GENE=DCDC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC5" target="_blank">DCDC5</a>;SAVANT_INFO=-/93.1kb/15/2.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-12404T>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCDC5+c.-12404T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:30965855">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,79:155:99:2085,0,2122:127	0|0:214,0:214:99:0,643,7354:127	1|0:79,74:153:99:2062,0,2155:127
11	31326332	.	G	A	1620.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=193;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3847588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3847588" target="_blank">rs3847588</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.754+830C>T;snpeff.Amino_Acid_length=1783;snpeff.Gene_Name=DCDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC1" target="_blank">DCDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000597505;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000452803;SAVANT_GENE=DCDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC1" target="_blank">DCDC1</a>;SAVANT_INFO=-/107.2kb/9/1.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.754+830C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCDC1+c.754+830C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:31326332">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1810:127	0|1:52,30:82:99:829,0,1627:127	0|0:59,0:59:99:0,177,2109:127
11	31326420	.	T	C	3238.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=148;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2616821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2616821" target="_blank">rs2616821</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.754+742A>G;snpeff.Amino_Acid_length=1783;snpeff.Gene_Name=DCDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC1" target="_blank">DCDC1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000597505;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000452803;SAVANT_GENE=DCDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC1" target="_blank">DCDC1</a>;SAVANT_INFO=-/107.2kb/9/1.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.754+742A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCDC1+c.754+742A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:31326420">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,18:36:99:512,0,481:127	0|0:52,0:52:99:0,156,1781:127	1|0:30,30:60:99:833,0,772:127
11	31327316	.	C	T	13954.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=469;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2616815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2616815" target="_blank">rs2616815</a>;ExAC.Info.AC=82140;ExAC.Info.AN=126690;ExAC.Info.AF=0.648;ExAC.Info.AC_Het=26975;ExAC.Info.AC_Hom=27305;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.85C>T;snpeff.Gene_Name=RP1-296L11.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-296L111" target="_blank">RP1-296L111</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000528872;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu200Glu/c.600G>A;snpeff.Amino_Acid_length=1783;snpeff.Gene_Name=DCDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-296L111" target="_blank">RP1-296L111</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000597505;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000452803;SAVANT_GENE=DCDC1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC1" target="_blank">DCDC1</a>;SAVANT_INFO=-/107.2kb/9/1.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.600G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DCDC1+c.600G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:31327316">View</a>	GT:AD:DP:GQ:PL:TP	0/1:76,58:134:99:1596,0,2315:127	0/1:103,81:184:99:2259,0,3148:127	0/1:81,70:151:99:1938,0,2521:127
11	31447908	.	AT	A	585.74	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=101;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11304707;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11304707" target="_blank">rs11304707</a>;ExAC.Info.AC=32372;ExAC.Info.AN=125004;ExAC.Info.AF=0.259;ExAC.Info.AC_Het=23614;ExAC.Info.AC_Hom=3847;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.319+7delT;snpeff.Amino_Acid_length=149;snpeff.Gene_Name=DNAJC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC24" target="_blank">DNAJC24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000465995;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.320delT;snpeff.Amino_Acid_length=149;snpeff.Gene_Name=DNAJC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC24" target="_blank">DNAJC24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000465995;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000465995;SAVANT_GENE=DNAJC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC24" target="_blank">DNAJC24</a>;SAVANT_INFO=+/62.0kb/5/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.319+16delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC24+c.319+16delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:31447908">View</a>	GT:AD:DP:GQ:PL:TP	0|0:46,0:46:99:0,138,1320:24	0|1:14,14:28:99:316,0,298:24	0|0:25,2:27:24:0,24,660:24
11	31447933	.	TA	T	359.78	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=59;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11304706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11304706" target="_blank">rs11304706</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.319+32delA;snpeff.Amino_Acid_length=149;snpeff.Gene_Name=DNAJC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC24" target="_blank">DNAJC24</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000465995;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000465995;SAVANT_GENE=DNAJC24;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC24" target="_blank">DNAJC24</a>;SAVANT_INFO=+/62.0kb/5/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.319+41delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DNAJC24+c.319+41delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:31447933">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,742:19	0|1:8,9:17:99:203,0,172:19	0|0:15,1:16:19:0,19,400:19
11	31648801	.	TG	T	552.2	VQSRTrancheINDEL99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=39;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs67239104;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67239104" target="_blank">rs67239104</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.738+61delG;snpeff.Amino_Acid_length=535;snpeff.Gene_Name=ELP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELP4" target="_blank">ELP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395934;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000350638;SAVANT_GENE=ELP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELP4" target="_blank">ELP4</a>;SAVANT_INFO=+/274.3kb/10/1.8kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.738+71delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELP4+c.738+71delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:31648801">View</a>	GT:AD:DP:GQ:PL:TP	1|0:7,11:18:99:220,0,113:3	0|0:9,1:10:1:0,1,182:3	1|0:3,8:11:28:123,0,28:3
11	31653956	.	C	A	52985.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=694;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4922872;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4922872" target="_blank">rs4922872</a>;ExAC.Info.AC=124620;ExAC.Info.AN=125118;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=474;ExAC.Info.AC_Hom=61935;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.927+4C>A;snpeff.Amino_Acid_length=535;snpeff.Gene_Name=ELP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELP4" target="_blank">ELP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395934;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.928C>A;snpeff.Amino_Acid_length=535;snpeff.Gene_Name=ELP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELP4" target="_blank">ELP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395934;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000350638;SAVANT_GENE=ELP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELP4" target="_blank">ELP4</a>;SAVANT_INFO=+/274.3kb/10/1.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.927+4C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELP4+c.927+4C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:31653956">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,226:226:99:7942,679,0:127	1|1:0,249:249:99:9305,749,0:127	1|1:0,219:219:99:7796,661,0:127
11	31814879	.	G	A	4675.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Aniridia|_106210_(3)|_Peters_anomaly|_604229_(3)|_Cataract_with_late-onset_corneal_dystrophy|_106210_(3)|_Keratitis|_148190_(3)|_Foveal_hyperplasia|_136520_(3)|_Morning_glory_disc_anomaly|_120430_(3)|_Optic_nerve_hypoplasia|_165550_(3)|_Coloboma|_ocular|_120200_(3)|_Coloboma_of_optic_nerve|_120430_(3)|_Gillespie_syndrome|_206700_(3)|Aniridia|_106210_(3)|_Peters_anomaly|_604229_(3)|_Cataract_with_late-onset_corneal_dystrophy|_106210_(3)|_Keratitis|_148190_(3)|_Foveal_hyperplasia|_136520_(3)|_Morning_glory_disc_anomaly|_120430_(3)|_Optic_nerve_hypoplasia|_165550_(3)|_Coloboma|_ocular|_120200_(3)|_Coloboma_of_optic_nerve|_120430_(3)|_Gillespie_syndrome|_206700_(3);dbSNP139.ID=rs3026384;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3026384" target="_blank">rs3026384</a>;ExAC.Info.AC=28322;ExAC.Info.AN=126290;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=18940;ExAC.Info.AC_Hom=3161;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1074+107C>T;snpeff.Amino_Acid_length=436;snpeff.Gene_Name=PAX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX6" target="_blank">PAX6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000419022;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000419022;SAVANT_GENE=PAX6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAX6" target="_blank">PAX6</a>;SAVANT_INFO=-/33.2kb/14/6.9kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1074+107C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAX6+c.1074+107C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:31814879">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,32:62:99:881,0,873:127	0|0:95,0:95:99:0,286,3454:127	1|0:38,31:69:99:906,0,1139:127
11	32113057	.	A	G	4750.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs223045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=223045" target="_blank">rs223045</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.254+61A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.255A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.255A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054950;SAVANT_GENE=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;SAVANT_INFO=+/14.9kb/6/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.254+61A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCN1+c.254+61A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32113057">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,18:26:99:594,0,242:112	0|0:38,0:38:99:0,114,1445:112	1|1:0,39:39:99:1499,117,0:112
11	32118665	.	CT	C	825.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.255-24delT;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.255delT;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.255delT;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000054950;SAVANT_GENE=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;SAVANT_INFO=+/14.9kb/6/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.255-10delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCN1+c.255-10delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32118665">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,10:40:87:87,0,505:86	0/1:29,13:42:93:93,0,493:86	0/1:16,14:30:99:136,0,264:86
11	32118925	.	A	G	16772.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs223073;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=223073" target="_blank">rs223073</a>;ExAC.Info.AC=122408;ExAC.Info.AN=123300;ExAC.Info.AF=0.993;ExAC.Info.AC_Het=651;ExAC.Info.AC_Hom=47066;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.448+42A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.87-173T>C;snpeff.Gene_Name=RP1-65P5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533009;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.449A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054950;SAVANT_GENE=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;SAVANT_INFO=+/14.9kb/6/2.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.448+42A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCN1+c.448+42A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32118925">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1671,144,0:127	1|1:0,79:79:99:2781,237,0:127	1|1:0,75:75:99:2687,225,0:127
11	32122003	.	C	A	19999.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=471;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2281411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281411" target="_blank">rs2281411</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.628-91C>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.87-3251G>T;snpeff.Gene_Name=RP1-65P5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533009;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628C>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628C>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628C>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054950;SAVANT_GENE=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;SAVANT_INFO=+/14.9kb/6/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.628-91C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCN1+c.628-91C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32122003">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,69:132:99:1849,0,1882:127	0|1:108,86:194:99:2387,0,2981:127	1|1:1,144:145:99:4903,398,0:127
11	32122020	.	T	G	22872.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=532;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs2073223;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2073223" target="_blank">rs2073223</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.628-74T>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.87-3268A>C;snpeff.Gene_Name=RP1-65P5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533009;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628T>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628T>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.628T>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054950;SAVANT_GENE=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;SAVANT_INFO=+/14.9kb/6/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.628-74T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCN1+c.628-74T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32122020">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,79:152:99:2116,0,1915:127	0|1:115,103:218:99:2886,0,3152:127	1|1:2,160:162:99:5309,437,0:127
11	32124579	.	C	T	6742.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=641;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs223060;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=223060" target="_blank">rs223060</a>;ExAC.Info.AC=3486;ExAC.Info.AN=31622;ExAC.Info.AF=0.110;ExAC.Info.AC_Het=2078;ExAC.Info.AC_Hom=279;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.689-248C>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.86+1973G>A;snpeff.Gene_Name=RP1-65P5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533009;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689C>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689C>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689C>T;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054950;SAVANT_GENE=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;SAVANT_INFO=+/14.9kb/6/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.689-248C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCN1+c.689-248C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32124579">View</a>	GT:AD:DP:GQ:PL:TP	0|0:183,0:183:99:0,550,6396:127	0|1:126,126:252:99:3390,0,3747:127	0|0:206,0:206:99:0,618,7102:127
11	32124685	.	G	A	29379.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=740;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs223059;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=223059" target="_blank">rs223059</a>;ExAC.Info.AC=66120;ExAC.Info.AN=105494;ExAC.Info.AF=0.627;ExAC.Info.AC_Het=4403;ExAC.Info.AC_Hom=5563;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.689-142G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.86+1867C>T;snpeff.Gene_Name=RP1-65P5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533009;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.689G>A;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054950;SAVANT_GENE=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;SAVANT_INFO=+/14.9kb/6/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.689-142G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCN1+c.689-142G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32124685">View</a>	GT:AD:DP:GQ:PL:TP	1|0:141,101:242:99:2521,0,4050:127	0|1:131,167:298:99:4295,0,3733:127	1|1:0,200:200:99:6658,601,0:127
11	32124978	.	T	C	13581.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=347;MQ=68.71;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4876;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4876" target="_blank">rs4876</a>;ExAC.Info.AC=64905;ExAC.Info.AN=126702;ExAC.Info.AF=0.512;ExAC.Info.AC_Het=30408;ExAC.Info.AC_Hom=17237;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.86+1574A>G;snpeff.Gene_Name=RP1-65P5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-65P53" target="_blank">RP1-65P53</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533009;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.840T>C;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-65P53" target="_blank">RP1-65P53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.840T>C;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-65P53" target="_blank">RP1-65P53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His280His/c.840T>C;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP1-65P53" target="_blank">RP1-65P53</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054950;SAVANT_GENE=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;SAVANT_INFO=+/14.9kb/6/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.840T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCN1+c.840T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32124978">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,50:109:99:1536,0,1513:127	0|0:135,0:135:99:0,406,4664:127	1|1:0,103:103:99:3737,309,0:127
11	32125855	.	A	G	9201.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs223058;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=223058" target="_blank">rs223058</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.889-56A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.86+697T>C;snpeff.Gene_Name=RP1-65P5.3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000533009;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[calcium-binding_region:6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[calcium-binding_region:6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:EF-hand_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.889A>G;snpeff.Amino_Acid_length=331;snpeff.Gene_Name=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000054950;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000054950;SAVANT_GENE=RCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RCN1" target="_blank">RCN1</a>;SAVANT_INFO=+/14.9kb/6/2.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.889-56A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RCN1+c.889-56A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32125855">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,41:75:99:1065,0,884:127	0|1:42,49:91:99:1356,0,1103:127	1|1:0,69:69:99:2143,207,0:127
11	32410516	.	T	C	3140.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=483;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Wilms_tumor|_type_1|_194070_(3)|_Denys-Drash_syndrome|_194080_(3)|_Nephrotic_syndrome|_type_4|_256370_(3)|_Frasier_syndrome|_136680_(3)|_Meacham_syndrome|_608978_(3)|_Mesothelioma|_somatic|_156240_(3);dbSNP139.ID=rs5030315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5030315" target="_blank">rs5030315</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=88;snpeff.Amino_Acid_Change=c.*88A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332351;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332351;SAVANT_GENE=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;SAVANT_INFO=-/47.9kb/10/3.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*88A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WT1+c.*88A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32410516">View</a>	GT:AD:DP:GQ:PL:TP	0|0:145,0:145:99:0,436,4861:127	0|0:200,0:200:99:0,601,7062:127	0|1:83,55:138:99:1589,0,2596:127
11	32410774	.	A	G	2086.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=341;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Wilms_tumor|_type_1|_194070_(3)|_Denys-Drash_syndrome|_194080_(3)|_Nephrotic_syndrome|_type_4|_256370_(3)|_Frasier_syndrome|_136680_(3)|_Meacham_syndrome|_608978_(3)|_Mesothelioma|_somatic|_156240_(3);dbSNP139.ID=rs1799937;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1799937" target="_blank">rs1799937</a>;ExAC.Info.AC=43738;ExAC.Info.AN=126704;ExAC.Info.AF=0.345;ExAC.Info.AC_Het=25199;ExAC.Info.AC_Hom=9217;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1433-49T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332351;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332351;SAVANT_GENE=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;SAVANT_INFO=-/47.9kb/10/3.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1433-49T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WT1+c.1433-49T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32410774">View</a>	GT:AD:DP:GQ:PL:TP	0|0:114,0:114:99:0,343,3736:127	0|0:149,0:149:99:0,448,5159:127	0|1:44,34:78:99:1062,0,1330:127
11	32418026	.	T	C	1718.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=245;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Wilms_tumor|_type_1|_194070_(3)|_Denys-Drash_syndrome|_194080_(3)|_Nephrotic_syndrome|_type_4|_256370_(3)|_Frasier_syndrome|_136680_(3)|_Meacham_syndrome|_608978_(3)|_Mesothelioma|_somatic|_156240_(3);dbSNP139.ID=rs115936822;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=115936822" target="_blank">rs115936822</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1099-73A>G;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332351;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332351;SAVANT_GENE=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;SAVANT_INFO=-/47.9kb/10/3.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1099-73A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WT1+c.1099-73A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32418026">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,237,2669:127	0|0:105,0:105:99:0,315,3554:127	0|1:30,31:61:99:878,0,825:127
11	32452037	.	AC	A	157.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=80;MQ=70.27;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Wilms_tumor|_type_1|_194070_(3)|_Denys-Drash_syndrome|_194080_(3)|_Nephrotic_syndrome|_type_4|_256370_(3)|_Frasier_syndrome|_136680_(3)|_Meacham_syndrome|_608978_(3)|_Mesothelioma|_somatic|_156240_(3);ExAC.Info.AC=1066;ExAC.Info.AN=118630;ExAC.Info.AF=8.986e-03;ExAC.Info.AC_Het=1167;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.647-1873delG;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332351;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000332351;SAVANT_GENE=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;SAVANT_INFO=-/47.9kb/10/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.647-1873delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WT1+c.647-1873delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32452037">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:76:0,76,1164:48	0|1:23,3:26:49:49,0,997:48	0|1:26,4:30:56:56,0,1080:48
11	32452041	.	A	G	149.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=81;MQ=70.28;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Wilms_tumor|_type_1|_194070_(3)|_Denys-Drash_syndrome|_194080_(3)|_Nephrotic_syndrome|_type_4|_256370_(3)|_Frasier_syndrome|_136680_(3)|_Meacham_syndrome|_608978_(3)|_Mesothelioma|_somatic|_156240_(3);ExAC.Info.AC=1323;ExAC.Info.AN=118706;ExAC.Info.AF=0.011;ExAC.Info.AC_Het=1192;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.647-1876T>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332351;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332351;SAVANT_GENE=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;SAVANT_INFO=-/47.9kb/10/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.647-1876T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WT1+c.647-1876T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32452041">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:78:0,78,1189:44	0|1:24,3:27:46:46,0,1038:44	0|1:27,2:29:50:50,0,1144:44
11	32452043	.	T	G	56.12	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=80;MQ=70.29;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Wilms_tumor|_type_1|_194070_(3)|_Denys-Drash_syndrome|_194080_(3)|_Nephrotic_syndrome|_type_4|_256370_(3)|_Frasier_syndrome|_136680_(3)|_Meacham_syndrome|_608978_(3)|_Mesothelioma|_somatic|_156240_(3);ExAC.Info.AC=1017;ExAC.Info.AN=118700;ExAC.Info.AF=8.568e-03;ExAC.Info.AC_Het=946;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.647-1878A>C;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332351;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332351;SAVANT_GENE=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;SAVANT_INFO=-/47.9kb/10/3.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.647-1878A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WT1+c.647-1878A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32452043">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:78:0,78,1189:3	0|1:24,3:27:46:46,0,1038:3	0|0:27,1:28:0:0,0,1150:3
11	32456694	.	C	A	2492.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=125;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;ACMG_genes.name=ACMG_gene;dbSNP139.ID=rs2234582;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2234582" target="_blank">rs2234582</a>;ExAC.Info.AC=9767;ExAC.Info.AN=76362;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=2245;ExAC.Info.AC_Hom=562;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccT;snpeff.Amino_Acid_Change=p.Pro66Pro/c.198G>T;snpeff.Amino_Acid_length=517;snpeff.Gene_Name=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332351;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332351;SAVANT_GENE=WT1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1" target="_blank">WT1</a>;SAVANT_INFO=-/47.9kb/10/3.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.198G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=WT1+c.198G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32456694">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1249:110	0|1:27,20:47:99:565,0,737:110	0|1:18,23:41:99:701,0,395:110
11	32460575	.	T	C	3290.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs11031784;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11031784" target="_blank">rs11031784</a>;ExAC.Info.AC=47792;ExAC.Info.AN=126698;ExAC.Info.AF=0.377;ExAC.Info.AC_Het=26942;ExAC.Info.AC_Hom=10359;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1453T>C;snpeff.Gene_Name=WT1-AS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1-AS" target="_blank">WT1-AS</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000395900;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=WT1-AS" target="_blank">WT1-AS</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=WT1-AS+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32460575">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1733:127	0|1:23,32:55:99:986,0,644:127	0|1:20,20:40:99:679,0,581:127
11	32704946	.	C	A	3830.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=46;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1396995;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1396995" target="_blank">rs1396995</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.429+136G>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>A;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>A;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>A;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>A;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>A;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>A;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>A;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335185;SAVANT_GENE=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;SAVANT_INFO=-/192.4kb/18/3.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.429+136G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC73+c.429+136G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32704946">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,17:17:51:535,51,0:29	1|1:0,19:19:57:654,57,0:29	1|1:0,10:10:30:329,30,0:29
11	32705076	.	C	T	2888.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs72895286;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72895286" target="_blank">rs72895286</a>;ExAC.Info.AC=6870;ExAC.Info.AN=125040;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=6313;ExAC.Info.AC_Hom=242;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.429+6G>A;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430C>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430G>A;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335185;SAVANT_GENE=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;SAVANT_INFO=-/192.4kb/18/3.8kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.429+6G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC73+c.429+6G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32705076">View</a>	GT:AD:DP:GQ:PL:TP	0|1:21,12:33:99:262,0,591:88	1|1:0,30:30:90:961,90,0:88	0|0:31,0:31:93:0,93,1031:88
11	32722320	.	A	T	6827.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11031943;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11031943" target="_blank">rs11031943</a>;ExAC.Info.AC=6107;ExAC.Info.AN=23142;ExAC.Info.AF=0.264;ExAC.Info.AC_Het=3847;ExAC.Info.AC_Hom=926;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.315+17T>A;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316A>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316A>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316A>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316A>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316A>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316A>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.316A>T;snpeff.Amino_Acid_length=1079;snpeff.Gene_Name=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335185;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335185;SAVANT_GENE=CCDC73;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC73" target="_blank">CCDC73</a>;SAVANT_INFO=-/192.4kb/18/3.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.315+17T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC73+c.315+17T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32722320">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,36:36:99:1084,108,0:80	1|1:0,55:55:99:1738,165,0:80	1|1:0,27:27:81:832,81,0:80
11	32874926	.	G	A	3216.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=267;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11032025;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11032025" target="_blank">rs11032025</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=50671;ExAC.Info.AN=126704;ExAC.Info.AF=0.400;ExAC.Info.AC_Het=30168;ExAC.Info.AC_Hom=10250;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=226;snpeff.Gene_Name=PRRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRG4" target="_blank">PRRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.534G>A;snpeff.Amino_Acid_length=226;snpeff.Gene_Name=PRRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRG4" target="_blank">PRRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro178Pro/c.534G>A;snpeff.Amino_Acid_length=226;snpeff.Gene_Name=PRRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRG4" target="_blank">PRRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257836;SAVANT_GENE=PRRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRG4" target="_blank">PRRG4</a>;SAVANT_INFO=+/28.2kb/6/5.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.534G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRG4+c.534G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32874926">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,214,2647:127	0|0:121,0:121:99:0,363,4434:127	0|1:27,48:75:99:1627,0,772:127
11	32874974	.	G	A	3666.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=382;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72899247;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72899247" target="_blank">rs72899247</a>;ExAC.Info.AC=55;ExAC.Info.AN=126704;ExAC.Info.AF=4.341e-04;ExAC.Info.AC_Het=55;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=226;snpeff.Gene_Name=PRRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRG4" target="_blank">PRRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.582G>A;snpeff.Amino_Acid_length=226;snpeff.Gene_Name=PRRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRG4" target="_blank">PRRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala194Ala/c.582G>A;snpeff.Amino_Acid_length=226;snpeff.Gene_Name=PRRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRG4" target="_blank">PRRG4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257836;SAVANT_GENE=PRRG4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRRG4" target="_blank">PRRG4</a>;SAVANT_INFO=+/28.2kb/6/5.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.582G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRRG4+c.582G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32874974">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,312,3659:127	0|0:166,0:166:99:0,499,5572:127	0|1:48,64:112:99:1852,0,1346:127
11	32954344	.	G	A	38134.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=486;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1022586;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1022586" target="_blank">rs1022586</a>;ExAC.Info.AC=124040;ExAC.Info.AN=125092;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=956;ExAC.Info.AC_Hom=61478;snpeff.Effect=sequence_feature[compositionally_biased_region:Ser-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1153G>A;snpeff.Amino_Acid_length=1735;snpeff.Gene_Name=QSER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSER1" target="_blank">QSER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399302;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val385Ile/c.1153G>A;snpeff.Amino_Acid_length=1735;snpeff.Gene_Name=QSER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSER1" target="_blank">QSER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399302;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399302;SAVANT_GENE=QSER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSER1" target="_blank">QSER1</a>;SAVANT_INFO=+/87.1kb/13/9.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1153G>A_p.Val385Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=QSER1+c.1153G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32954344">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,152:152:99:5137,457,0:127	1|1:0,168:168:99:6024,505,0:127	1|1:0,166:166:99:5715,499,0:127
11	32956244	.	A	G	34625.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7940077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7940077" target="_blank">rs7940077</a>;ExAC.Info.AC=124069;ExAC.Info.AN=125124;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=952;ExAC.Info.AC_Hom=61281;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn1018Ser/c.3053A>G;snpeff.Amino_Acid_length=1735;snpeff.Gene_Name=QSER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSER1" target="_blank">QSER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399302;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399302;SAVANT_GENE=QSER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSER1" target="_blank">QSER1</a>;SAVANT_INFO=+/87.1kb/13/9.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3053A>G_p.Asn1018Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=QSER1+c.3053A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32956244">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,126:126:99:4545,379,0:127	1|1:0,155:155:99:5851,466,0:127	1|1:0,113:113:99:4231,340,0:127
11	32956620	.	A	G	42067.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=552;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7481878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7481878" target="_blank">rs7481878</a>;ExAC.Info.AC=103183;ExAC.Info.AN=125148;ExAC.Info.AF=0.824;ExAC.Info.AC_Het=17084;ExAC.Info.AC_Hom=42953;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro1143Pro/c.3429A>G;snpeff.Amino_Acid_length=1735;snpeff.Gene_Name=QSER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSER1" target="_blank">QSER1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399302;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399302;SAVANT_GENE=QSER1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=QSER1" target="_blank">QSER1</a>;SAVANT_INFO=+/87.1kb/13/9.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.3429A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=QSER1+c.3429A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:32956620">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,178:178:99:6310,535,0:127	1|1:0,221:221:99:7877,664,0:127	1|1:0,153:153:99:5315,459,0:127
11	33052893	.	C	G	4667.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=173;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs56308649;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56308649" target="_blank">rs56308649</a>;ExAC.Info.AC=3706;ExAC.Info.AN=125154;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3494;ExAC.Info.AC_Hom=87;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.783-31C>G;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=DEPDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC7" target="_blank">DEPDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241051;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241051;SAVANT_GENE=DEPDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC7" target="_blank">DEPDC7</a>;SAVANT_INFO=+/17.7kb/9/1.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.783-31C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC7+c.783-31C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33052893">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,21:45:99:667,0,752:127	1|0:36,46:82:99:1440,0,1174:127	0|0:46,0:46:99:0,138,1818:127
11	33054856	.	C	T	4762.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17852859;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17852859" target="_blank">rs17852859</a>;ExAC.Info.AC=3716;ExAC.Info.AN=125124;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3525;ExAC.Info.AC_Hom=90;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCa/aTa;snpeff.Amino_Acid_Change=p.Thr464Ile/c.1391C>T;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=DEPDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC7" target="_blank">DEPDC7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241051;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241051;SAVANT_GENE=DEPDC7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DEPDC7" target="_blank">DEPDC7</a>;SAVANT_INFO=+/17.7kb/9/1.8kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1391C>T_p.Thr464Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DEPDC7+c.1391C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33054856">View</a>	GT:AD:DP:GQ:PL:TP	0|1:38,31:69:99:797,0,1079:127	1|0:28,45:73:99:1251,0,734:127	0|0:55,0:55:99:0,165,1923:127
11	33065394	.	C	T	16192.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=514;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs1064005;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1064005" target="_blank">rs1064005</a>;ExAC.Info.AC=47964;ExAC.Info.AN=126704;ExAC.Info.AF=0.379;ExAC.Info.AC_Het=29012;ExAC.Info.AC_Hom=9474;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu25Leu/c.75C>T;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531632;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334274;SAVANT_GENE=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;SAVANT_INFO=+/34.1kb/10/2.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.75C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCP11L1+c.75C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33065394">View</a>	GT:AD:DP:GQ:PL:TP	0/1:63,70:133:99:1782,0,1731:127	0/1:110,98:208:99:2760,0,3315:127	0/1:95,78:173:99:2136,0,2784:127
11	33076191	.	T	C	10285.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2273544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273544" target="_blank">rs2273544</a>;ExAC.Info.AC=89231;ExAC.Info.AN=126704;ExAC.Info.AF=0.704;ExAC.Info.AC_Het=25743;ExAC.Info.AC_Hom=31730;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly72Gly/c.216T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531632;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334274;SAVANT_GENE=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;SAVANT_INFO=+/34.1kb/10/2.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.216T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCP11L1+c.216T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33076191">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,38:80:99:939,0,1166:127	0/1:61,63:124:99:1848,0,1598:127	0/1:46,44:90:99:1198,0,1310:127
11	33078251	.	A	T	1711.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=54;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4471389;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4471389" target="_blank">rs4471389</a>;ExAC.Info.AC=2752;ExAC.Info.AN=14068;ExAC.Info.AF=0.196;ExAC.Info.AC_Het=88;ExAC.Info.AC_Hom=33;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.297-410A>T;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531632;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334274;SAVANT_GENE=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;SAVANT_INFO=+/34.1kb/10/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.297-410A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCP11L1+c.297-410A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33078251">View</a>	GT:AD:DP:GQ:PL:TP	0/1:4,12:16:99:315,0,103:84	0/1:14,15:29:99:444,0,366:84	0/1:6,3:9:85:85,0,213:84
11	33078643	.	T	C	15038.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=453;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2273546;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273546" target="_blank">rs2273546</a>;ExAC.Info.AC=47906;ExAC.Info.AN=126696;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=28935;ExAC.Info.AC_Hom=9456;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.297-18T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531632;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334274;SAVANT_GENE=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;SAVANT_INFO=+/34.1kb/10/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.297-18T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCP11L1+c.297-18T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33078643">View</a>	GT:AD:DP:GQ:PL:TP	0/1:81,68:149:99:2048,0,2318:127	0/1:79,84:163:99:2577,0,2282:127	0/1:72,69:141:99:2070,0,2079:127
11	33080496	.	T	C	7411.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11032133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11032133" target="_blank">rs11032133</a>;ExAC.Info.AC=47935;ExAC.Info.AN=126702;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=28919;ExAC.Info.AC_Hom=9475;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.639-9T>C;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531632;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334274;SAVANT_GENE=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;SAVANT_INFO=+/34.1kb/10/2.8kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.639-9T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCP11L1+c.639-9T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33080496">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,29:73:99:845,0,1259:127	0/1:57,35:92:99:1090,0,1699:127	0/1:41,33:74:99:1050,0,1240:127
11	33083263	.	G	A	3565.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=165;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61889262;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61889262" target="_blank">rs61889262</a>;ExAC.Info.AC=3727;ExAC.Info.AN=126678;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=3526;ExAC.Info.AC_Hom=83;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro321Pro/c.963G>A;snpeff.Amino_Acid_length=509;snpeff.Gene_Name=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531632;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334274;SAVANT_GENE=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;SAVANT_INFO=+/34.1kb/10/2.8kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.963G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCP11L1+c.963G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33083263">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,20:48:99:502,0,793:127	1|0:34,32:66:99:798,0,962:127	0|0:51,0:51:99:0,153,1846:127
11	33102642	.	T	C	940.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72903002;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72903002" target="_blank">rs72903002</a>;ExAC.Info.AC=48;ExAC.Info.AN=20768;ExAC.Info.AF=2.311e-03;ExAC.Info.AC_Het=43;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CSTF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTF3" target="_blank">CSTF3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTF3" target="_blank">CSTF3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTF3" target="_blank">CSTF3</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSTF3+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33102642">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1304:110	0|0:66,0:66:99:0,199,2421:110	0|1:23,15:38:99:489,0,713:110
11	33106616	.	C	T	14763.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=449;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs3758741;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3758741" target="_blank">rs3758741</a>;ExAC.Info.AC=39732;ExAC.Info.AN=126704;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=25931;ExAC.Info.AC_Hom=6850;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=17;snpeff.Amino_Acid_Change=c.*17G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=CSTF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323959;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323959;SAVANT_GENE=CSTF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTF3" target="_blank">CSTF3</a>;SAVANT_INFO=-/76.9kb/21/2.8kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*17G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSTF3+c.*17G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33106616">View</a>	GT:AD:DP:GQ:PL:TP	0/1:60,56:116:99:1409,0,1814:127	0/1:97,79:176:99:2092,0,2907:127	0/1:75,82:157:99:2305,0,2267:127
11	33106866	.	CAT	C	2755.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=264;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs143330290;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=143330290" target="_blank">rs143330290</a>;ExAC.Info.AC=3580;ExAC.Info.AN=124418;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=3221;ExAC.Info.AC_Hom=103;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TCP11L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1952-33_1952-32delAT;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=CSTF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCP11L1" target="_blank">TCP11L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323959;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000323959;SAVANT_GENE=CSTF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTF3" target="_blank">CSTF3</a>;SAVANT_INFO=-/76.9kb/21/2.8kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.1952-33_1952-32delAT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSTF3+c.1952-33_1952-32delAT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33106866">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,247,3670:127	0|0:109,0:109:99:0,328,4865:127	0|1:37,36:73:99:1401,0,1432:127
11	33129997	.	C	T	4193.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=141;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11605353;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11605353" target="_blank">rs11605353</a>;ExAC.Info.AC=24283;ExAC.Info.AN=112256;ExAC.Info.AF=0.216;ExAC.Info.AC_Het=8305;ExAC.Info.AC_Hom=1730;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.226-33G>A;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=CSTF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTF3" target="_blank">CSTF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HAT_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.226C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=CSTF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTF3" target="_blank">CSTF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323959;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HAT_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.226C>T;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=CSTF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTF3" target="_blank">CSTF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323959;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323959;SAVANT_GENE=CSTF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTF3" target="_blank">CSTF3</a>;SAVANT_INFO=-/76.9kb/21/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.226-33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSTF3+c.226-33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33129997">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,20:41:99:583,0,649:127	0/1:25,34:59:99:941,0,727:127	0/1:21,20:41:99:590,0,713:127
11	33166523	.	TA	T	278.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=25;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.28-2992delT;snpeff.Amino_Acid_length=717;snpeff.Gene_Name=CSTF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTF3" target="_blank">CSTF3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000323959;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000323959;SAVANT_GENE=CSTF3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSTF3" target="_blank">CSTF3</a>;SAVANT_INFO=-/76.9kb/21/2.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.28-2992delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CSTF3+c.28-2992delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33166523">View</a>	GT:AD:DP:GQ:PL:TP	0/1:5,3:8:58:58,0,110:28	0/1:7,2:9:29:29,0,148:28	0/1:4,4:8:69:69,0,84:28
11	33360886	.	AT	A	28091.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=358;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs5790925;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5790925" target="_blank">rs5790925</a>;ExAC.Info.AC=126678;ExAC.Info.AN=126678;ExAC.Info.AF=1.00;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=63200;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1429-9delT;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=HIPK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK3" target="_blank">HIPK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303296;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429delT;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=HIPK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK3" target="_blank">HIPK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303296;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429delT;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=HIPK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK3" target="_blank">HIPK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303296;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429delT;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=HIPK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK3" target="_blank">HIPK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303296;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429delT;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=HIPK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK3" target="_blank">HIPK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303296;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Protein_kinase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1429delT;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=HIPK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK3" target="_blank">HIPK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303296;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000303296;SAVANT_GENE=HIPK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK3" target="_blank">HIPK3</a>;SAVANT_INFO=+/99.4kb/17/7.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1429-6delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIPK3+c.1429-6delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33360886">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2950,265,0:127	1|1:0,142:142:99:4757,427,0:127	1|1:0,128:128:99:4306,385,0:127
11	33362723	.	G	T	7718.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs266470;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=266470" target="_blank">rs266470</a>;ExAC.Info.AC=84997;ExAC.Info.AN=126000;ExAC.Info.AF=0.675;ExAC.Info.AC_Het=23263;ExAC.Info.AC_Hom=25388;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1773+50G>T;snpeff.Amino_Acid_length=1215;snpeff.Gene_Name=HIPK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK3" target="_blank">HIPK3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303296;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303296;SAVANT_GENE=HIPK3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIPK3" target="_blank">HIPK3</a>;SAVANT_INFO=+/99.4kb/17/7.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1773+50G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HIPK3+c.1773+50G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33362723">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:858,75,0:101	1|1:0,34:34:99:1182,102,0:101	1|1:0,38:38:99:1317,114,0:101
11	33564123	.	T	C	15461.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=486;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2076623;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076623" target="_blank">rs2076623</a>;ExAC.Info.AC=81425;ExAC.Info.AN=124976;ExAC.Info.AF=0.652;ExAC.Info.AC_Het=27583;ExAC.Info.AC_Hom=26869;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly41Gly/c.123T>C;snpeff.Amino_Acid_length=1855;snpeff.Gene_Name=KIAA1549L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1549L" target="_blank">KIAA1549L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389726;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321505;SAVANT_GENE=C11orf41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf41" target="_blank">C11orf41</a>;SAVANT_INFO=+/131.8kb/20/11.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.123T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf41+c.123T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33564123">View</a>	GT:AD:DP:GQ:PL:TP	0/1:90,62:152:99:1893,0,2374:127	0/1:104,85:189:99:2565,0,2997:127	0/1:68,77:145:99:2272,0,1958:127
11	33581262	.	G	A	4397.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2281381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281381" target="_blank">rs2281381</a>;ExAC.Info.AC=48129;ExAC.Info.AN=125288;ExAC.Info.AF=0.384;ExAC.Info.AC_Het=29107;ExAC.Info.AC_Hom=9263;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2983-33G>A;snpeff.Amino_Acid_length=1855;snpeff.Gene_Name=KIAA1549L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1549L" target="_blank">KIAA1549L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389726;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321505;SAVANT_GENE=C11orf41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf41" target="_blank">C11orf41</a>;SAVANT_INFO=+/131.8kb/20/11.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.2965-33G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf41+c.2965-33G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33581262">View</a>	GT:AD:DP:GQ:PL:TP	0/1:30,18:48:99:468,0,894:127	0/1:38,27:65:99:690,0,1117:127	0/1:17,15:32:99:425,0,463:127
11	33581306	.	G	A	7817.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2281380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2281380" target="_blank">rs2281380</a>;ExAC.Info.AC=48538;ExAC.Info.AN=125306;ExAC.Info.AF=0.387;ExAC.Info.AC_Het=29202;ExAC.Info.AC_Hom=9589;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr998Thr/c.2994G>A;snpeff.Amino_Acid_length=1855;snpeff.Gene_Name=KIAA1549L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1549L" target="_blank">KIAA1549L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389726;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321505;SAVANT_GENE=C11orf41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf41" target="_blank">C11orf41</a>;SAVANT_INFO=+/131.8kb/20/11.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.2976G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf41+c.2976G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33581306">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,35:73:99:960,0,1062:127	0/1:53,35:88:99:963,0,1427:127	0/1:26,27:53:99:812,0,742:127
11	33604960	.	C	T	4464.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2273115;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273115" target="_blank">rs2273115</a>;ExAC.Info.AC=25530;ExAC.Info.AN=125330;ExAC.Info.AF=0.204;ExAC.Info.AC_Het=16311;ExAC.Info.AC_Hom=2346;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile1202Ile/c.3606C>T;snpeff.Amino_Acid_length=1855;snpeff.Gene_Name=KIAA1549L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1549L" target="_blank">KIAA1549L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389726;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321505;SAVANT_GENE=C11orf41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf41" target="_blank">C11orf41</a>;SAVANT_INFO=+/131.8kb/20/11.7kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.3588C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf41+c.3588C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33604960">View</a>	GT:AD:DP:GQ:PL:TP	1|0:40,42:82:99:1053,0,1017:127	0|0:62,0:62:99:0,185,2121:127	1|0:33,33:66:99:922,0,960:127
11	33628117	.	A	C	2018.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=104;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2076625;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076625" target="_blank">rs2076625</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4007-70A>C;snpeff.Amino_Acid_length=1855;snpeff.Gene_Name=KIAA1549L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1549L" target="_blank">KIAA1549L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389726;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321505;SAVANT_GENE=C11orf41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf41" target="_blank">C11orf41</a>;SAVANT_INFO=+/131.8kb/20/11.7kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.3989-70A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf41+c.3989-70A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33628117">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,10:37:99:307,0,758:93	0|0:31,0:31:93:0,93,1012:93	1|0:18,18:36:99:463,0,469:93
11	33631423	.	G	A	6014.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=310;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2076622;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2076622" target="_blank">rs2076622</a>;ExAC.Info.AC=51781;ExAC.Info.AN=124928;ExAC.Info.AF=0.414;ExAC.Info.AC_Het=29810;ExAC.Info.AC_Hom=10961;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys1439Lys/c.4317G>A;snpeff.Amino_Acid_length=1855;snpeff.Gene_Name=KIAA1549L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1549L" target="_blank">KIAA1549L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389726;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321505;SAVANT_GENE=C11orf41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf41" target="_blank">C11orf41</a>;SAVANT_INFO=+/131.8kb/20/11.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.4299G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf41+c.4299G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33631423">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,294,3445:127	0|1:57,66:123:99:1900,0,1658:127	0|1:50,39:89:99:1127,0,1523:127
11	33640104	.	A	C	22677.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=520;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs768474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=768474" target="_blank">rs768474</a>;ExAC.Info.AC=84728;ExAC.Info.AN=124782;ExAC.Info.AF=0.679;ExAC.Info.AC_Het=26080;ExAC.Info.AC_Hom=28592;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Aga/Cga;snpeff.Amino_Acid_Change=p.Arg1478Arg/c.4432A>C;snpeff.Amino_Acid_length=1855;snpeff.Gene_Name=KIAA1549L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1549L" target="_blank">KIAA1549L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389726;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321505;SAVANT_GENE=C11orf41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf41" target="_blank">C11orf41</a>;SAVANT_INFO=+/131.8kb/20/11.7kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.4414A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf41+c.4414A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33640104">View</a>	GT:AD:DP:GQ:PL:TP	1|0:114,73:187:99:1949,0,3151:127	0|1:77,98:175:99:2589,0,2123:127	1|1:0,158:158:99:5266,475,0:127
11	33667333	.	A	G	18783.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=446;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs1033543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1033543" target="_blank">rs1033543</a>;ExAC.Info.AC=81968;ExAC.Info.AN=125310;ExAC.Info.AF=0.654;ExAC.Info.AC_Het=27314;ExAC.Info.AC_Hom=27046;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr1546Thr/c.4638A>G;snpeff.Amino_Acid_length=1855;snpeff.Gene_Name=KIAA1549L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1549L" target="_blank">KIAA1549L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389726;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321505;SAVANT_GENE=C11orf41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf41" target="_blank">C11orf41</a>;SAVANT_INFO=+/131.8kb/20/11.7kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.4620A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf41+c.4620A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33667333">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,81:154:99:2242,0,1790:127	0|1:102,52:154:99:1551,0,2886:127	1|1:0,138:138:99:4815,415,0:127
11	33680371	.	C	T	2798.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12280103;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12280103" target="_blank">rs12280103</a>;ExAC.Info.AC=27692;ExAC.Info.AN=118274;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=9033;ExAC.Info.AC_Hom=1886;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser1687Ser/c.5061C>T;snpeff.Amino_Acid_length=1855;snpeff.Gene_Name=KIAA1549L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1549L" target="_blank">KIAA1549L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389726;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321505;SAVANT_GENE=C11orf41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf41" target="_blank">C11orf41</a>;SAVANT_INFO=+/131.8kb/20/11.7kb;SAVANT_LOC=Ex18;SAVANT_HGVS=c.5043C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf41+c.5043C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33680371">View</a>	GT:AD:DP:GQ:PL:TP	0|0:51,0:51:99:0,153,1796:127	0|1:28,47:75:99:1418,0,861:127	0|0:76,0:76:99:0,228,2686:127
11	33689652	.	G	A	7634.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=325;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61736869;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61736869" target="_blank">rs61736869</a>;ExAC.Info.AC=13199;ExAC.Info.AN=125048;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=11507;ExAC.Info.AC_Hom=808;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.303+1418C>T;snpeff.Gene_Name=RP4-541C22.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-541C225" target="_blank">RP4-541C225</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000534431;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtG/gtA;snpeff.Amino_Acid_Change=p.Val1840Val/c.5520G>A;snpeff.Amino_Acid_length=1855;snpeff.Gene_Name=KIAA1549L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP4-541C225" target="_blank">RP4-541C225</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000389726;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000321505;SAVANT_GENE=C11orf41;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf41" target="_blank">C11orf41</a>;SAVANT_INFO=+/131.8kb/20/11.7kb;SAVANT_LOC=Ex20;SAVANT_HGVS=c.5502G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf41+c.5502G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33689652">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,54:105:99:1458,0,1296:127	1|0:66,55:121:99:1437,0,1925:127	0|0:99,0:99:99:0,297,3259:127
11	33721175	.	G	C	6906.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4755893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4755893" target="_blank">rs4755893</a>;ExAC.Info.AC=3968;ExAC.Info.AN=15872;ExAC.Info.AF=0.250;ExAC.Info.AC_Het=2293;ExAC.Info.AC_Hom=515;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.308-1115C>G;snpeff.Amino_Acid_length=130;snpeff.Gene_Name=CD59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD59" target="_blank">CD59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534312;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.496+616C>G;snpeff.Amino_Acid_length=193;snpeff.Gene_Name=C11orf91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD59" target="_blank">CD59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379011;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379011;SAVANT_GENE=C11orf91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf91" target="_blank">C11orf91</a>;SAVANT_INFO=-/2.5kb/2/0.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.496+616C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf91+c.496+616C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33721175">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,24:57:99:790,0,1003:127	0|0:73,0:73:99:0,219,2643:127	1|1:0,67:67:99:2348,201,0:127
11	33722084	.	G	T	720.48	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=24;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs149234067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149234067" target="_blank">rs149234067</a>;ExAC.Info.AC=2368;ExAC.Info.AN=12948;ExAC.Info.AF=0.183;ExAC.Info.AC_Het=458;ExAC.Info.AC_Hom=110;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.308-2024C>A;snpeff.Amino_Acid_length=130;snpeff.Gene_Name=CD59;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD59" target="_blank">CD59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534312;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gAg;snpeff.Amino_Acid_Change=p.Ala68Glu/c.203C>A;snpeff.Amino_Acid_length=193;snpeff.Gene_Name=C11orf91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD59" target="_blank">CD59</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000379011;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000379011;SAVANT_GENE=C11orf91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf91" target="_blank">C11orf91</a>;SAVANT_INFO=-/2.5kb/2/0.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.203C>A_p.Ala68Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf91+c.203C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33722084">View</a>	GT:AD:DP:GQ:PL:TP	1|0:5,2:7:62:62,0,169:20	0|0:10,0:10:30:0,30,381:20	1|1:0,7:7:21:248,21,0:20
11	33773161	.	G	C	8693.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=110;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7479064;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7479064" target="_blank">rs7479064</a>;ExAC.Info.AC=125480;ExAC.Info.AN=126652;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=1060;ExAC.Info.AC_Hom=61964;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.725-8C>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=FBXO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO3" target="_blank">FBXO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265651;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.725C>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=FBXO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO3" target="_blank">FBXO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265651;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265651;SAVANT_GENE=FBXO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO3" target="_blank">FBXO3</a>;SAVANT_INFO=-/33.6kb/11/2.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.725-8C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO3+c.725-8C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33773161">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1119,96,0:92	1|1:0,47:47:99:1761,141,0:92	1|1:0,31:31:93:1162,93,0:92
11	33775982	.	A	G	7897.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2272065;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2272065" target="_blank">rs2272065</a>;ExAC.Info.AC=47926;ExAC.Info.AN=126648;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=29286;ExAC.Info.AC_Hom=9182;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.724+19T>C;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=FBXO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO3" target="_blank">FBXO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265651;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265651;SAVANT_GENE=FBXO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO3" target="_blank">FBXO3</a>;SAVANT_INFO=-/33.6kb/11/2.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.724+19T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO3+c.724+19T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33775982">View</a>	GT:AD:DP:GQ:PL:TP	1|0:33,38:71:99:1208,0,826:127	0|0:68,0:68:99:0,204,2417:127	1|1:0,67:67:99:2381,201,0:127
11	33784754	.	A	C	3128.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72920547;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72920547" target="_blank">rs72920547</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.359-4607T>G;snpeff.Amino_Acid_length=471;snpeff.Gene_Name=FBXO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO3" target="_blank">FBXO3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000265651;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000265651;SAVANT_GENE=FBXO3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXO3" target="_blank">FBXO3</a>;SAVANT_INFO=-/33.6kb/11/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.359-4607T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FBXO3+c.359-4607T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33784754">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,237,2483:127	0|1:26,52:78:99:1583,0,630:127	0|0:74,0:74:99:0,222,2478:127
11	33880896	.	T	A	5860.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=756;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Leukemia|_acute_T-cell_(2);dbSNP139.ID=rs3740616;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740616" target="_blank">rs3740616</a>;ExAC.Info.AC=24194;ExAC.Info.AN=126690;ExAC.Info.AF=0.191;ExAC.Info.AC_Het=19244;ExAC.Info.AC_Hom=2416;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=6;snpeff.Amino_Acid_Change=c.*6A>T;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257818;SAVANT_GENE=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;SAVANT_INFO=-/33.7kb/6/2.3kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*6A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMO2+c.*6A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33880896">View</a>	GT:AD:DP:GQ:PL:TP	0|0:283,1:284:99:0,817,9712:127	0|0:259,1:260:99:0,750,9275:127	0|1:115,97:212:99:2949,0,3362:127
11	33881016	.	T	C	54864.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=881;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Leukemia|_acute_T-cell_(2);dbSNP139.ID=rs3740617;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740617" target="_blank">rs3740617</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=75739;ExAC.Info.AN=126704;ExAC.Info.AF=0.598;ExAC.Info.AC_Het=29727;ExAC.Info.AC_Hom=22998;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570T>C;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys190Lys/c.570A>G;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257818;SAVANT_GENE=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;SAVANT_INFO=-/33.7kb/6/2.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.570A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMO2+c.570A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33881016">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,301:302:99:10864,871,0:127	1|1:1,304:305:99:11140,876,0:127	1|0:146,128:274:99:3624,0,4202:127
11	33886080	.	C	T	1348.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=206;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Leukemia|_acute_T-cell_(2);dbSNP139.ID=rs2273797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2273797" target="_blank">rs2273797</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.464+68G>A;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465C>T;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257818;SAVANT_GENE=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;SAVANT_INFO=-/33.7kb/6/2.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.464+68G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMO2+c.464+68G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33886080">View</a>	GT:AD:DP:GQ:PL:TP	0|0:63,0:63:99:0,189,2108:127	0|0:91,0:91:99:0,273,2828:127	0|1:27,25:52:99:693,0,744:127
11	33886294	.	A	G	3030.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=324;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Leukemia|_acute_T-cell_(2);dbSNP139.ID=rs2038602;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2038602" target="_blank">rs2038602</a>;ExAC.Info.AC=52185;ExAC.Info.AN=126684;ExAC.Info.AF=0.412;ExAC.Info.AC_Het=29661;ExAC.Info.AC_Hom=11118;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.318A>G;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LIM_zinc-binding_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.318A>G;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atC;snpeff.Amino_Acid_Change=p.Ile106Ile/c.318T>C;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257818;SAVANT_GENE=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;SAVANT_INFO=-/33.7kb/6/2.3kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.318T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMO2+c.318T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33886294">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,294,3324:127	0|0:128,0:128:99:0,385,4500:127	0|1:48,50:98:99:1534,0,1468:127
11	33886547	.	C	T	13076.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=180;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Leukemia|_acute_T-cell_(2);dbSNP139.ID=rs3824848;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824848" target="_blank">rs3824848</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.249-184G>A;snpeff.Amino_Acid_length=227;snpeff.Gene_Name=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257818;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257818;SAVANT_GENE=LMO2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LMO2" target="_blank">LMO2</a>;SAVANT_INFO=-/33.7kb/6/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.249-184G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LMO2+c.249-184G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:33886547">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2250,180,0:127	1|1:0,66:66:99:2479,199,0:127	1|0:29,25:54:99:825,0,874:127
11	34093209	.	A	C	235.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=79;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72923861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72923861" target="_blank">rs72923861</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.217-64A>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532820;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.217A>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532820;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.217A>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532820;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.217A>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532820;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341394;SAVANT_GENE=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;SAVANT_INFO=+/49.5kb/19/4.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.217-64A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPRIN1+c.217-64A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34093209">View</a>	GT:AD:DP:GQ:PL:TP	0|0:31,0:31:93:0,93,1080:77	0|1:17,5:22:99:136,0,550:77	0|0:26,0:26:78:0,78,877:77
11	34093349	.	AT	A	11375.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10718447;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10718447" target="_blank">rs10718447</a>;ExAC.Info.AC=126392;ExAC.Info.AN=126696;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=300;ExAC.Info.AC_Hom=62957;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.279+15delT;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532820;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280delT;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532820;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280delT;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532820;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.280delT;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532820;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000341394;SAVANT_GENE=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;SAVANT_INFO=+/49.5kb/19/4.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.279+20delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPRIN1+c.279+20delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34093349">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:1864,181,0:127	1|1:0,56:56:99:1742,168,0:127	1|1:0,54:54:99:1683,163,0:127
11	34107785	.	G	A	17232.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4755360;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4755360" target="_blank">rs4755360</a>;ExAC.Info.AC=126384;ExAC.Info.AN=126700;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=311;ExAC.Info.AC_Hom=62959;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1122+19G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532820;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:G3BP1-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532820;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:G3BP1-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1123G>A;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532820;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000341394;SAVANT_GENE=CAPRIN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAPRIN1" target="_blank">CAPRIN1</a>;SAVANT_INFO=+/49.5kb/19/4.1kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1122+19G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAPRIN1+c.1122+19G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34107785">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2633,223,0:127	1|1:0,83:83:99:2902,249,0:127	1|1:0,67:67:99:2396,201,0:127
11	34152939	.	T	C	27936.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2957516;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2957516" target="_blank">rs2957516</a>;ExAC.Info.AC=126613;ExAC.Info.AN=126700;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=85;ExAC.Info.AC_Hom=63215;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Cat;snpeff.Amino_Acid_Change=p.Tyr461His/c.1381T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257829;SAVANT_GENE=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;SAVANT_INFO=+/41.3kb/29/4.0kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1381T>C_p.Tyr461His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAT10+c.1381T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34152939">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,129:129:99:4368,387,0:127	1|1:0,140:140:99:4729,420,0:127	1|1:0,109:109:99:3688,327,0:127
11	34154641	.	C	T	21013.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=272;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2957518;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2957518" target="_blank">rs2957518</a>;ExAC.Info.AC=118376;ExAC.Info.AN=126702;ExAC.Info.AF=0.934;ExAC.Info.AC_Het=6714;ExAC.Info.AC_Hom=55830;snpeff.Effect=sequence_feature[domain:N-acetyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686C>T;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:N-acetyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686C>T;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:N-acetyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686C>T;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:N-acetyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686C>T;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:N-acetyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686C>T;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:N-acetyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686C>T;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:N-acetyltransferase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1686C>T;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro562Pro/c.1686C>T;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257829;SAVANT_GENE=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;SAVANT_INFO=+/41.3kb/29/4.0kb;SAVANT_LOC=Ex16;SAVANT_HGVS=c.1686C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAT10+c.1686C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34154641">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3212,285,0:127	1|1:0,111:111:99:3738,333,0:127	1|1:0,66:66:99:2210,198,0:127
11	34163705	.	T	C	33806.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2982612;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2982612" target="_blank">rs2982612</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2812-117T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2812T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2812T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2812T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2812T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2812T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2812T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2812T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2812T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2812T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2812T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257829;SAVANT_GENE=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;SAVANT_INFO=+/41.3kb/29/4.0kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2812-117T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAT10+c.2812-117T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34163705">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:4194,355,0:127	1|1:0,149:149:99:5290,448,0:127	1|1:0,151:151:99:5319,454,0:127
11	34165079	.	A	G	1990.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=186;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72910804;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72910804" target="_blank">rs72910804</a>;ExAC.Info.AC=2338;ExAC.Info.AN=126702;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=2249;ExAC.Info.AC_Hom=29;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2969+4A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Lys-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_localization_to_the_nucleolus_and_midbody];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2970A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257829;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257829;SAVANT_GENE=NAT10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NAT10" target="_blank">NAT10</a>;SAVANT_INFO=+/41.3kb/29/4.0kb;SAVANT_LOC=In28/29;SAVANT_HGVS=c.2969+4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NAT10+c.2969+4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34165079">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2192:127	0|0:72,0:72:99:0,216,2599:127	0|1:22,32:54:99:1014,0,649:127
11	34188981	.	C	T	690.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=142;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs7120870;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7120870" target="_blank">rs7120870</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1654-74G>A;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=ABTB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABTB2" target="_blank">ABTB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435224;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000435224;SAVANT_GENE=ABTB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABTB2" target="_blank">ABTB2</a>;SAVANT_INFO=-/207.0kb/17/4.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1654-74G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABTB2+c.1654-74G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34188981">View</a>	GT:AD:DP:GQ:PL:TP	0|0:48,0:48:99:0,144,1626:127	0|0:58,0:58:99:0,174,2010:127	0|1:23,13:36:99:364,0,692:127
11	34188982	.	A	G	11341.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7120749;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7120749" target="_blank">rs7120749</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1654-75T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=ABTB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABTB2" target="_blank">ABTB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435224;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000435224;SAVANT_GENE=ABTB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABTB2" target="_blank">ABTB2</a>;SAVANT_INFO=-/207.0kb/17/4.9kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1654-75T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABTB2+c.1654-75T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34188982">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1662,141,0:107	1|1:1,55:56:99:1945,158,0:107	1|1:0,36:36:99:1393,108,0:107
11	34189564	.	A	G	24405.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=288;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4756111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4756111" target="_blank">rs4756111</a>;ExAC.Info.AC=113071;ExAC.Info.AN=126676;ExAC.Info.AF=0.893;ExAC.Info.AC_Het=11090;ExAC.Info.AC_Hom=49292;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1564-25T>C;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=ABTB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABTB2" target="_blank">ABTB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435224;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=ABTB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABTB2" target="_blank">ABTB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435224;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:ANK_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1564A>G;snpeff.Amino_Acid_length=1025;snpeff.Gene_Name=ABTB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABTB2" target="_blank">ABTB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000435224;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000435224;SAVANT_GENE=ABTB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABTB2" target="_blank">ABTB2</a>;SAVANT_INFO=-/207.0kb/17/4.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.1564-25T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ABTB2+c.1564-25T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34189564">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,90:90:99:3329,271,0:127	1|1:0,108:108:99:3800,324,0:127	1|1:0,90:90:99:3216,270,0:127
11	34460472	.	A	T	8701.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Acatalasemia|_614097_(3);dbSNP139.ID=rs7943316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7943316" target="_blank">rs7943316</a>;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=89;snpeff.Amino_Acid_Change=c.-89A>T;snpeff.Amino_Acid_length=527;snpeff.Gene_Name=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241052;SAVANT_GENE=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;SAVANT_INFO=+/33.1kb/13/2.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-89A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAT+c.-89A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34460472">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,20:48:99:540,0,802:127	1|1:0,55:55:99:1977,165,0:127	0|1:32,29:61:99:843,0,847:127
11	34460541	.	T	C	19422.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Acatalasemia|_614097_(3);dbSNP139.ID=rs1049982;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1049982" target="_blank">rs1049982</a>;ExAC.Info.AC=68603;ExAC.Info.AN=122228;ExAC.Info.AF=0.561;ExAC.Info.AC_Het=14372;ExAC.Info.AC_Hom=11929;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=20;snpeff.Amino_Acid_Change=c.-20T>C;snpeff.Amino_Acid_length=527;snpeff.Gene_Name=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241052;SAVANT_GENE=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;SAVANT_INFO=+/33.1kb/13/2.3kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-20T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAT+c.-20T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34460541">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,51:97:99:1491,0,1270:127	1|1:1,123:124:99:4221,333,0:127	0|1:66,62:128:99:1867,0,1814:127
11	34460711	.	G	A	5724.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Acatalasemia|_614097_(3);dbSNP139.ID=rs12270780;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12270780" target="_blank">rs12270780</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66+85G>A;snpeff.Amino_Acid_length=527;snpeff.Gene_Name=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241052;SAVANT_GENE=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;SAVANT_INFO=+/33.1kb/13/2.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.66+85G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAT+c.66+85G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34460711">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,0:79:99:0,237,2926:127	0|1:50,53:103:99:1443,0,1516:127	0|1:59,51:110:99:1439,0,1829:127
11	34460769	.	A	G	4692.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Acatalasemia|_614097_(3);dbSNP139.ID=rs11604331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11604331" target="_blank">rs11604331</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.66+143A>G;snpeff.Amino_Acid_length=527;snpeff.Gene_Name=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241052;SAVANT_GENE=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;SAVANT_INFO=+/33.1kb/13/2.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.66+143A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAT+c.66+143A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34460769">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,36:69:99:1023,0,942:127	1|0:41,39:80:99:1119,0,1141:127	0|0:69,0:69:99:0,207,2466:127
11	34470679	.	G	A	17245.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=810;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Acatalasemia|_614097_(3);dbSNP139.ID=rs769218;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=769218" target="_blank">rs769218</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.67-60G>A;snpeff.Amino_Acid_length=527;snpeff.Gene_Name=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241052;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241052;SAVANT_GENE=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;SAVANT_INFO=+/33.1kb/13/2.3kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.67-60G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAT+c.67-60G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34470679">View</a>	GT:AD:DP:GQ:PL:TP	1|0:113,120:233:99:3341,0,3394:127	0|0:288,0:288:99:0,866,10355:127	1|0:133,156:289:99:4339,0,3999:127
11	34482908	.	C	T	7438.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=342;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Acatalasemia|_614097_(3);dbSNP139.ID=rs769217;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=769217" target="_blank">rs769217</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Vitiligo_susceptibility|_association_with;hgmd_2014.2.OMIM_ID=115500;hgmd_2014.2.PubMed=11837458;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=11837458" target="_blank">11837458</a>;ExAC.Info.AC=30662;ExAC.Info.AN=126704;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=22501;ExAC.Info.AC_Hom=4080;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp389Asp/c.1167C>T;snpeff.Amino_Acid_length=527;snpeff.Gene_Name=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241052;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241052;SAVANT_GENE=CAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CAT" target="_blank">CAT</a>;SAVANT_INFO=+/33.1kb/13/2.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1167C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CAT+c.1167C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34482908">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,59:121:99:1494,0,1662:127	0|0:109,0:109:99:0,326,3677:127	1|0:60,52:112:99:1372,0,1644:127
11	34502345	.	T	C	18487.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=520;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2231828;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2231828" target="_blank">rs2231828</a>;ExAC.Info.AC=42467;ExAC.Info.AN=126704;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=25118;ExAC.Info.AC_Hom=8673;snpeff.Effect=sequence_feature[DNA-binding_region:ETS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.675T>C;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:ETS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.675T>C;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr225Thr/c.675A>G;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312319;SAVANT_GENE=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;SAVANT_INFO=-/33.0kb/7/2.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.675A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELF5+c.675A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34502345">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,89:168:99:2508,0,1918:127	1|1:2,168:170:99:5874,461,0:127	0|0:182,0:182:99:0,547,6334:127
11	34511541	.	C	A	16657.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=432;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2231825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2231825" target="_blank">rs2231825</a>;ExAC.Info.AC=43244;ExAC.Info.AN=126702;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=25370;ExAC.Info.AC_Hom=8937;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.436+15G>T;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312319;SAVANT_GENE=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;SAVANT_INFO=-/33.0kb/7/2.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.436+15G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELF5+c.436+15G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34511541">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,66:134:99:1715,0,1844:127	1|1:0,168:168:99:5552,504,0:127	0|0:130,0:130:99:0,391,4482:127
11	34514941	.	T	G	2293.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=59;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs737254;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=737254" target="_blank">rs737254</a>;ExAC.Info.AC=28762;ExAC.Info.AN=107282;ExAC.Info.AF=0.268;ExAC.Info.AC_Het=5388;ExAC.Info.AC_Hom=1556;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.385+85A>C;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PNT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>G;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PNT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>G;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PNT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.386T>G;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312319;SAVANT_GENE=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;SAVANT_INFO=-/33.0kb/7/2.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.385+85A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELF5+c.385+85A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34514941">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,7:20:99:230,0,392:53	1|1:0,18:18:54:717,54,0:53	0|0:21,0:21:63:0,63,789:53
11	34527152	.	A	G	5871.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=131;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs2231821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2231821" target="_blank">rs2231821</a>;ExAC.Info.AC=32474;ExAC.Info.AN=126704;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=22605;ExAC.Info.AC_Hom=4929;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.151+24T>C;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PNT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152A>G;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PNT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152A>G;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PNT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.152A>G;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312319;SAVANT_GENE=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;SAVANT_INFO=-/33.0kb/7/2.5kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.151+24T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELF5+c.151+24T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34527152">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,18:42:99:560,0,618:111	1|1:1,50:51:99:1789,115,0:111	0|0:38,0:38:99:0,114,1326:111
11	34532993	.	T	C	5395.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11606405;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11606405" target="_blank">rs11606405</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.26+98A>G;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312319;SAVANT_GENE=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;SAVANT_INFO=-/33.0kb/7/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.26+98A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELF5+c.26+98A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34532993">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,39:84:99:1057,0,1808:127	1|0:54,29:83:99:864,0,1789:127	0|0:62,0:62:99:0,199,2665:127
11	34533002	.	A	C	6992.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=259;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs28395819;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28395819" target="_blank">rs28395819</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.26+89T>G;snpeff.Amino_Acid_length=265;snpeff.Gene_Name=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312319;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312319;SAVANT_GENE=ELF5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELF5" target="_blank">ELF5</a>;SAVANT_INFO=-/33.0kb/7/2.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.26+89T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ELF5+c.26+89T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34533002">View</a>	GT:AD:DP:GQ:PL:TP	1|0:44,49:93:99:1332,0,1656:127	0|0:94,0:94:99:0,282,3502:127	1|0:35,37:72:99:1017,0,1038:127
11	34668175	.	C	T	10531.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=407;MQ=69.96;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9804460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9804460" target="_blank">rs9804460</a>;ExAC.Info.AC=3793;ExAC.Info.AN=126704;ExAC.Info.AF=0.030;ExAC.Info.AC_Het=3656;ExAC.Info.AC_Hom=68;snpeff.Effect=sequence_feature[domain:PNT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531794;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PNT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531794;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PNT];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531794;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala118Val/c.353C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531794;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531794;SAVANT_GENE=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;SAVANT_INFO=+/26.9kb/9/1.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.353C>T_p.Ala118Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EHF+c.353C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34668175">View</a>	GT:AD:DP:GQ:PL:TP	0|1:51,65:116:99:1725,0,1365:127	1|0:87,82:169:99:2119,0,2524:127	0|0:122,0:122:99:0,366,4109:127
11	34678433	.	C	T	7592.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=393;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs447228;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=447228" target="_blank">rs447228</a>;ExAC.Info.AC=15807;ExAC.Info.AN=126640;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=13081;ExAC.Info.AC_Hom=1218;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.611-22C>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531794;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531794;SAVANT_GENE=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;SAVANT_INFO=+/26.9kb/9/1.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.611-22C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EHF+c.611-22C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34678433">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,43:99:99:1144,0,1661:127	1|0:77,63:140:99:1720,0,2357:127	0|0:154,0:154:99:0,463,5553:127
11	34678435	.	C	G	36040.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=397;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs435537;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=435537" target="_blank">rs435537</a>;ExAC.Info.AC=124542;ExAC.Info.AN=126614;ExAC.Info.AF=0.984;ExAC.Info.AC_Het=1691;ExAC.Info.AC_Hom=60485;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.611-20C>G;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531794;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531794;SAVANT_GENE=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;SAVANT_INFO=+/26.9kb/9/1.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.611-20C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EHF+c.611-20C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34678435">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3857,297,0:127	1|1:0,143:143:99:5819,430,0:127	1|1:0,157:157:99:5603,471,0:127
11	34680053	.	G	A	9756.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3818514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3818514" target="_blank">rs3818514</a>;ExAC.Info.AC=53946;ExAC.Info.AN=126616;ExAC.Info.AF=0.426;ExAC.Info.AC_Het=27891;ExAC.Info.AC_Hom=12728;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.674-27G>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531794;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531794;SAVANT_GENE=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;SAVANT_INFO=+/26.9kb/9/1.5kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.674-27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EHF+c.674-27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34680053">View</a>	GT:AD:DP:GQ:PL:TP	0|0:147,0:147:99:0,442,5407:127	0|1:76,76:152:99:2235,0,2212:127	0|1:64,85:149:99:2663,0,1925:127
11	34680400	.	T	A	16369.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=727;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs286891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=286891" target="_blank">rs286891</a>;ExAC.Info.AC=16021;ExAC.Info.AN=126688;ExAC.Info.AF=0.126;ExAC.Info.AC_Het=13420;ExAC.Info.AC_Hom=1288;snpeff.Effect=sequence_feature[DNA-binding_region:ETS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.891T>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531794;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:ETS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.891T>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531794;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atT/atA;snpeff.Amino_Acid_Change=p.Ile297Ile/c.891T>A;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531794;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531794;SAVANT_GENE=EHF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EHF" target="_blank">EHF</a>;SAVANT_INFO=+/26.9kb/9/1.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.891T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EHF+c.891T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34680400">View</a>	GT:AD:DP:GQ:PL:TP	0|1:109,102:211:99:2696,0,2969:127	1|0:134,167:301:99:4777,0,3442:127	0|0:215,0:215:99:0,646,7330:127
11	34904399	.	C	T	23107.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs2288667;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2288667" target="_blank">rs2288667</a>;ExAC.Info.AC=80909;ExAC.Info.AN=126608;ExAC.Info.AF=0.639;ExAC.Info.AC_Het=27760;ExAC.Info.AC_Hom=26191;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.681-36G>A;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.630-36G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.630-36G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34904399">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,96:96:99:3217,288,0:127	1|1:0,112:112:99:3646,336,0:127	1|1:0,93:93:99:3199,279,0:127
11	34909926	.	T	G	26536.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs1571133;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1571133" target="_blank">rs1571133</a>;ExAC.Info.AC=81074;ExAC.Info.AN=126698;ExAC.Info.AF=0.640;ExAC.Info.AC_Het=28011;ExAC.Info.AC_Hom=26511;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acC;snpeff.Amino_Acid_Change=p.Thr142Thr/c.426A>C;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.375A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.375A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34909926">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:3583,333,0:127	1|1:0,141:141:99:4824,424,0:127	1|1:0,101:101:99:3434,303,0:127
11	34910397	.	C	T	6188.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1977420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1977420" target="_blank">rs1977420</a>;ExAC.Info.AC=51088;ExAC.Info.AN=126624;ExAC.Info.AF=0.403;ExAC.Info.AC_Het=28564;ExAC.Info.AC_Hom=11081;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGt/tAt;snpeff.Amino_Acid_Change=p.Cys93Tyr/c.278G>A;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.227G>A_p.Cys76Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.227G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34910397">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,59:59:99:1875,177,0:127	1|0:32,20:52:99:465,0,1062:127	1|0:22,22:44:99:595,0,629:127
11	34910433	.	A	G	13742.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs1977421;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1977421" target="_blank">rs1977421</a>;ExAC.Info.AC=80439;ExAC.Info.AN=126314;ExAC.Info.AF=0.637;ExAC.Info.AC_Het=26886;ExAC.Info.AC_Hom=25275;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.259-17T>C;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.208-17T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.208-17T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34910433">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2545,231,0:127	1|1:0,71:71:99:2324,213,0:127	1|1:0,55:55:99:1835,164,0:127
11	34916484	.	A	G	10992.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs1326940;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1326940" target="_blank">rs1326940</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.209+73T>C;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.158+73T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.158+73T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34916484">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1358,120,0:119	1|1:0,52:52:99:1759,156,0:119	1|1:0,40:40:99:1495,120,0:119
11	34916657	.	C	T	3528.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61734605;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61734605" target="_blank">rs61734605</a>;ExAC.Info.AC=29596;ExAC.Info.AN=126702;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=20977;ExAC.Info.AC_Hom=4302;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.109G>A;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp37Asn/c.109G>A;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.58G>A_p.Asp20Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.58G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34916657">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1380:125	0|1:25,34:59:99:984,0,683:125	0|1:28,27:55:99:800,0,856:125
11	34916710	.	A	G	7067.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=88;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs1326941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1326941" target="_blank">rs1326941</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.109-53T>C;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.58-53T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.58-53T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34916710">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,32:32:96:1077,96,0:74	1|1:0,31:31:93:1057,93,0:74	1|1:0,25:25:75:927,75,0:74
11	34918375	.	A	G	51048.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=623;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2986429;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2986429" target="_blank">rs2986429</a>;ExAC.Info.AC=9859;ExAC.Info.AN=14886;ExAC.Info.AF=0.662;ExAC.Info.AC_Het=2344;ExAC.Info.AC_Hom=2966;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTt/gCt;snpeff.Amino_Acid_Change=p.Val14Ala/c.41T>C;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.58-1718T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.58-1718T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34918375">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,202:202:99:6788,607,0:127	1|1:0,224:224:99:7705,672,0:127	1|1:0,197:197:99:6867,592,0:127
11	34937813	.	G	A	24186.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=348;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2956114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2956114" target="_blank">rs2956114</a>;ExAC.Info.AC=49401;ExAC.Info.AN=125668;ExAC.Info.AF=0.393;ExAC.Info.AC_Het=26547;ExAC.Info.AC_Hom=10262;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=26;snpeff.Amino_Acid_Change=c.-26C>T;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.19C>T_p.Arg7Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.19C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34937813">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,112:113:99:3833,305,0:127	1|0:54,65:119:99:1788,0,1513:127	1|0:51,65:116:99:2028,0,1297:127
11	34937884	.	G	A	26192.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=416;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs2956113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2956113" target="_blank">rs2956113</a>;ExAC.Info.AC=47369;ExAC.Info.AN=124228;ExAC.Info.AF=0.381;ExAC.Info.AC_Het=21352;ExAC.Info.AC_Hom=8081;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=upstream_gene_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Amino_Acid_length=259;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278359;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-53C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.-53C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34937884">View</a>	GT:AD:DP:GQ:PL:TP	1|1:2,138:140:99:4407,371,0:127	1|0:71,57:128:99:1621,0,1927:127	1|0:68,80:148:99:2192,0,1689:127
11	34937901	.	A	G	34244.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=369;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs2956112;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2956112" target="_blank">rs2956112</a>;ExAC.Info.AC=91590;ExAC.Info.AN=121742;ExAC.Info.AF=0.752;ExAC.Info.AC_Het=12105;ExAC.Info.AC_Hom=21204;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-70T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.-70T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34937901">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:4121,357,0:127	1|1:0,119:119:99:4193,356,0:127	1|1:0,131:131:99:4566,394,0:127
11	34937931	.	G	A	16612.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2956111;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2956111" target="_blank">rs2956111</a>;ExAC.Info.AC=36321;ExAC.Info.AN=106556;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=5828;ExAC.Info.AC_Hom=2410;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395787;SAVANT_GENE=APIP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APIP" target="_blank">APIP</a>;SAVANT_INFO=-/34.2kb/7/1.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-100C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APIP+c.-100C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34937931">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,76:77:99:2726,189,0:127	1|0:44,40:84:99:1256,0,1449:127	1|0:38,47:85:99:1525,0,1141:127
11	34938074	.	C	T	1550.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs112032820;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112032820" target="_blank">rs112032820</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDHX+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34938074">View</a>	GT:AD:DP:GQ:PL:TP	0|0:35,0:35:99:0,103,1064:103	0|1:21,16:37:99:492,0,506:103	0|1:15,11:26:99:303,0,417:103
11	34938115	.	C	A	13259.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=138;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs2956110;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2956110" target="_blank">rs2956110</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDHX+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34938115">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,46:46:99:1511,138,0:125	1|1:0,50:50:99:1815,150,0:125	1|1:0,42:42:99:1545,126,0:125
11	34938265	.	C	T	17485.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs2956109;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2956109" target="_blank">rs2956109</a>;ExAC.Info.AC=97764;ExAC.Info.AN=126586;ExAC.Info.AF=0.772;ExAC.Info.AC_Het=21102;ExAC.Info.AC_Hom=37461;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.63C>T;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro21Pro/c.63C>T;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227868;SAVANT_GENE=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;SAVANT_INFO=+/79.4kb/11/2.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.63C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDHX+c.63C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34938265">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1994,171,0:127	1|1:0,72:72:99:2632,216,0:127	1|1:0,54:54:99:1975,162,0:127
11	34963416	.	T	C	11142.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=145;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs2986407;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2986407" target="_blank">rs2986407</a>;ExAC.Info.AC=6325;ExAC.Info.AN=10536;ExAC.Info.AF=0.600;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=13;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.33T>C;snpeff.Gene_Name=MIR1343;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR1343" target="_blank">MIR1343</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000516053;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.242-5637T>C;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR1343" target="_blank">MIR1343</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242T>C;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR1343" target="_blank">MIR1343</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242T>C;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR1343" target="_blank">MIR1343</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.242T>C;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR1343" target="_blank">MIR1343</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227868;SAVANT_GENE=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;SAVANT_INFO=+/79.4kb/11/2.4kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.242-5637T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDHX+c.242-5637T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34963416">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1377,134,0:125	1|1:0,58:58:99:1823,173,0:125	1|1:0,42:42:99:1405,126,0:125
11	34969112	.	A	G	4424.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=638;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|P|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11539202;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11539202" target="_blank">rs11539202</a>;ExAC.Info.AC=27922;ExAC.Info.AN=126704;ExAC.Info.AF=0.220;ExAC.Info.AC_Het=20213;ExAC.Info.AC_Hom=3854;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301A>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301A>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301A>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.301A>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr101Ala/c.301A>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227868;SAVANT_GENE=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;SAVANT_INFO=+/79.4kb/11/2.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.301A>G_p.Thr101Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDHX+c.301A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34969112">View</a>	GT:AD:DP:GQ:PL:TP	0|0:207,0:207:99:0,622,6382:127	0|0:242,0:242:99:0,729,8567:127	0|1:100,89:189:99:2231,0,2518:127
11	34969130	.	G	A	3584.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=595;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72912954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72912954" target="_blank">rs72912954</a>;ExAC.Info.AC=3;ExAC.Info.AN=126704;ExAC.Info.AF=2.368e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.319G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.319G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.319G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp107Asn/c.319G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227868;SAVANT_GENE=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;SAVANT_INFO=+/79.4kb/11/2.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.319G>A_p.Asp107Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDHX+c.319G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34969130">View</a>	GT:AD:DP:GQ:PL:TP	0|0:206,0:206:99:0,619,7029:127	0|1:147,75:222:99:1811,0,4599:127	0|0:167,0:167:99:0,505,6668:127
11	34978892	.	G	A	25670.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=447;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs2243948;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2243948" target="_blank">rs2243948</a>;ExAC.Info.AC=80226;ExAC.Info.AN=126488;ExAC.Info.AF=0.634;ExAC.Info.AC_Het=25895;ExAC.Info.AC_Hom=25012;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.343-39G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.343G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.343G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Lipoyl-binding];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.343G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227868;SAVANT_GENE=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;SAVANT_INFO=+/79.4kb/11/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.343-39G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDHX+c.343-39G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34978892">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,143:143:99:4702,429,0:127	1|0:82,93:175:99:2704,0,2341:127	1|1:0,129:129:99:4534,388,0:127
11	34991727	.	T	C	75944.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=1315;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs497582;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=497582" target="_blank">rs497582</a>;ExAC.Info.AC=81725;ExAC.Info.AN=126698;ExAC.Info.AF=0.645;ExAC.Info.AC_Het=27407;ExAC.Info.AC_Hom=27125;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val286Val/c.858T>C;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227868;SAVANT_GENE=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;SAVANT_INFO=+/79.4kb/11/2.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.858T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDHX+c.858T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34991727">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,429:429:99:14793,1289,0:127	1|0:231,194:425:99:5863,0,6604:127	1|1:0,461:461:99:16176,1384,0:127
11	34999745	.	C	G	35168.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=1173;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3)|Lacticacidemia_due_to_PDX1_deficiency|_245349_(3);dbSNP139.ID=rs10768108;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10768108" target="_blank">rs10768108</a>;ExAC.Info.AC=76116;ExAC.Info.AN=126664;ExAC.Info.AF=0.601;ExAC.Info.AC_Het=27546;ExAC.Info.AC_Hom=24232;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1023+16C>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227868;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227868;SAVANT_GENE=PDHX;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDHX" target="_blank">PDHX</a>;SAVANT_INFO=+/79.4kb/11/2.4kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1023+16C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PDHX+c.1023+16C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:34999745">View</a>	GT:AD:DP:GQ:PL:TP	1|0:214,166:380:99:4551,0,6097:127	0|0:434,0:434:99:0,1303,14893:127	1|1:0,359:359:99:12228,1077,0:127
11	35226155	.	A	G	21947.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=631;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_group|_Indian_system]|_609027_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9666607;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9666607" target="_blank">rs9666607</a>;ExAC.Info.AC=94697;ExAC.Info.AN=126696;ExAC.Info.AF=0.747;ExAC.Info.AC_Het=22845;ExAC.Info.AC_Hom=35876;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aGa;snpeff.Amino_Acid_Change=p.Lys417Arg/c.1250A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428726;SAVANT_GENE=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;SAVANT_INFO=+/90.8kb/18/3.0kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1250A>G_p.Lys417Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD44+c.1250A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35226155">View</a>	GT:AD:DP:GQ:PL:TP	1|0:85,100:185:99:2868,0,2202:127	0|0:258,2:260:99:0,732,8659:127	1|1:0,186:186:99:6783,559,0:127
11	35229673	.	T	C	23698.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=727;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_group|_Indian_system]|_609027_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1467558;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1467558" target="_blank">rs1467558</a>;ExAC.Info.AC=111504;ExAC.Info.AN=126696;ExAC.Info.AF=0.880;ExAC.Info.AC_Het=12628;ExAC.Info.AC_Hom=49384;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Stem];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTa/aCa;snpeff.Amino_Acid_Change=p.Ile479Thr/c.1436T>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428726;SAVANT_GENE=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;SAVANT_INFO=+/90.8kb/18/3.0kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1436T>C_p.Ile479Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD44+c.1436T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35229673">View</a>	GT:AD:DP:GQ:PL:TP	1|0:133,120:253:99:3339,0,3290:127	0|0:264,1:265:99:0,755,8691:127	1|1:0,209:209:99:7527,628,0:127
11	35244044	.	G	C	34674.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=971;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_group|_Indian_system]|_609027_(3);dbSNP139.ID=rs7116739;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7116739" target="_blank">rs7116739</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2024+765G>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2025G>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2025G>C;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428726;SAVANT_GENE=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;SAVANT_INFO=+/90.8kb/18/3.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2024+765G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD44+c.2024+765G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35244044">View</a>	GT:AD:DP:GQ:PL:TP	1|0:164,157:321:99:5914,0,4401:127	0|0:372,0:372:99:0,1117,12263:127	1|1:0,278:278:99:10404,839,0:127
11	35244058	.	A	G	15040.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=902;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=[Blood_group|_Indian_system]|_609027_(3);dbSNP139.ID=rs7116432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7116432" target="_blank">rs7116432</a>;Clinvar.ClinicalSignificance=association;Clinvar.RCVaccession=RCV000128596;Clinvar.PhenotypeIDs=MedGen:C1833683|OMIM:167030|SNOMED_CT:444717006;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2024+779A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2025A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2025A>G;snpeff.Amino_Acid_length=742;snpeff.Gene_Name=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000428726;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000428726;SAVANT_GENE=CD44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD44" target="_blank">CD44</a>;SAVANT_INFO=+/90.8kb/18/3.0kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2024+779A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD44+c.2024+779A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35244058">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000128596" target="_blank">association</a> 	GT:AD:DP:GQ:PL:TP	1|0:151,148:299:99:3949,0,5868:127	0|0:345,0:345:99:0,1065,15449:127	1|0:142,116:258:99:3177,0,3814:127
11	35308369	.	T	C	1058.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=112;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs1042113;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1042113" target="_blank">rs1042113</a>;ExAC.Info.AC=30535;ExAC.Info.AN=126704;ExAC.Info.AF=0.241;ExAC.Info.AC_Het=22510;ExAC.Info.AC_Hom=4009;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1221T>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1221T>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val407Val/c.1221A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278379;SAVANT_GENE=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;SAVANT_INFO=-/168.0kb/11/11.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1221A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC1A2+c.1221A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35308369">View</a>	GT:AD:DP:GQ:PL:TP	0|0:44,0:44:99:0,132,1541:104	0|0:35,0:35:99:0,105,1281:104	0|1:16,17:33:99:548,0,452:104
11	35327748	.	C	T	1746.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs752949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=752949" target="_blank">rs752949</a>;ExAC.Info.AC=28876;ExAC.Info.AN=126702;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=21506;ExAC.Info.AC_Hom=3675;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.603C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.603C>T;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro201Pro/c.603G>A;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278379;SAVANT_GENE=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;SAVANT_INFO=-/168.0kb/11/11.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.603G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC1A2+c.603G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35327748">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,207,2388:127	0|0:68,0:68:99:0,204,2445:127	0|1:31,31:62:99:892,0,881:127
11	35327825	.	A	G	2226.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3895234;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3895234" target="_blank">rs3895234</a>;ExAC.Info.AC=28798;ExAC.Info.AN=126644;ExAC.Info.AF=0.227;ExAC.Info.AC_Het=21304;ExAC.Info.AC_Hom=3603;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.562-36T>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.562A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278379;SAVANT_GENE=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;SAVANT_INFO=-/168.0kb/11/11.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.562-36T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC1A2+c.562-36T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35327825">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2663:127	0|0:100,0:100:99:0,300,3229:127	0|1:43,44:87:99:1132,0,997:127
11	35334032	.	T	C	792.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs56028027;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56028027" target="_blank">rs56028027</a>;ExAC.Info.AC=28822;ExAC.Info.AN=126650;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=21548;ExAC.Info.AC_Hom=3532;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.311-37A>G;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311T>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.311T>C;snpeff.Amino_Acid_length=574;snpeff.Gene_Name=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278379;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278379;SAVANT_GENE=SLC1A2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC1A2" target="_blank">SLC1A2</a>;SAVANT_INFO=-/168.0kb/11/11.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.311-37A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC1A2+c.311-37A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35334032">View</a>	GT:AD:DP:GQ:PL:TP	0|0:25,0:25:75:0,75,796:74	0|0:31,0:31:93:0,93,1057:74	0|1:8,12:20:99:415,0,189:74
11	35456061	.	T	C	1642.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D|D|D|D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61736408;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61736408" target="_blank">rs61736408</a>;ExAC.Info.AC=15873;ExAC.Info.AN=126692;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=13186;ExAC.Info.AC_Hom=1338;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1676T>C;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278360;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1676T>C;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278360;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1676T>C;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278360;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1676A>G;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278360;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln559Arg/c.1676A>G;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278360;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278360;SAVANT_GENE=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;SAVANT_INFO=-/93.8kb/12/2.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1676A>G_p.Gln559Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAMR1+c.1676A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35456061">View</a>	GT:AD:DP:GQ:PL:TP	0|0:60,0:60:99:0,180,2113:127	0|1:23,28:51:99:840,0,712:127	0|0:44,0:44:99:0,132,1615:127
11	35456153	.	C	T	4184.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs35216474;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35216474" target="_blank">rs35216474</a>;ExAC.Info.AC=15878;ExAC.Info.AN=126704;ExAC.Info.AF=0.125;ExAC.Info.AC_Het=13200;ExAC.Info.AC_Hom=1339;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584C>T;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278360;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584C>T;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278360;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584C>T;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278360;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaG/aaA;snpeff.Amino_Acid_Change=p.Lys528Lys/c.1584G>A;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278360;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278360;SAVANT_GENE=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;SAVANT_INFO=-/93.8kb/12/2.8kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1584G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAMR1+c.1584G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35456153">View</a>	GT:AD:DP:GQ:PL:TP	0|0:120,0:120:99:0,360,3971:127	0|1:70,78:148:99:2111,0,2005:127	0|0:109,0:109:99:0,327,3822:127
11	35501843	.	A	G	14522.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs592268;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=592268" target="_blank">rs592268</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.380-5551T>C;snpeff.Amino_Acid_length=737;snpeff.Gene_Name=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278360;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278360;SAVANT_GENE=PAMR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAMR1" target="_blank">PAMR1</a>;SAVANT_INFO=-/93.8kb/12/2.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.380-5551T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PAMR1+c.380-5551T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35501843">View</a>	GT:AD:DP:GQ:PL:TP	0|1:62,60:122:99:1704,0,1719:127	1|1:0,150:150:99:5301,450,0:127	0|0:148,0:148:99:0,445,4993:127
11	35641312	.	G	A	1232.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=103;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3740799;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740799" target="_blank">rs3740799</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=12900;ExAC.Info.AN=109076;ExAC.Info.AF=0.118;ExAC.Info.AC_Het=3316;ExAC.Info.AC_Hom=361;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu376Leu/c.1128G>A;snpeff.Amino_Acid_length=437;snpeff.Gene_Name=FJX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FJX1" target="_blank">FJX1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000317811;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000317811;SAVANT_GENE=FJX1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FJX1" target="_blank">FJX1</a>;SAVANT_INFO=+/2.7kb/1/2.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1128G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FJX1+c.1128G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:35641312">View</a>	GT:AD:DP:GQ:PL:TP	0|0:36,0:36:99:0,108,1340:86	0|1:19,19:38:99:635,0,621:86	0|0:29,0:29:87:0,87,1053:86
11	36057626	.	G	A	24943.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs262451;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=262451" target="_blank">rs262451</a>;ExAC.Info.AC=65583;ExAC.Info.AN=126688;ExAC.Info.AF=0.518;ExAC.Info.AC_Het=29514;ExAC.Info.AC_Hom=17871;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.47-27G>A;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315571;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315571;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315571;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000315571;SAVANT_GENE=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;SAVANT_INFO=+/288.1kb/6/3.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.47-27G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDLRAD3+c.47-27G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36057626">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,99:99:99:3557,298,0:127	1|0:77,74:151:99:2219,0,2196:127	1|1:0,109:109:99:3902,327,0:127
11	36103228	.	A	G	21459.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=601;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs1138807;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1138807" target="_blank">rs1138807</a>;ExAC.Info.AC=44485;ExAC.Info.AN=126704;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=28228;ExAC.Info.AC_Hom=8127;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315571;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LDL-receptor_class_A_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315571;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:LDL-receptor_class_A_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315571;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315571;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315571;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315571;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.219A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315571;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro73Pro/c.219A>G;snpeff.Amino_Acid_length=345;snpeff.Gene_Name=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000315571;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000315571;SAVANT_GENE=LDLRAD3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LDLRAD3" target="_blank">LDLRAD3</a>;SAVANT_INFO=+/288.1kb/6/3.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.219A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LDLRAD3+c.219A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36103228">View</a>	GT:AD:DP:GQ:PL:TP	0|1:91,76:167:99:2027,0,2582:127	1|1:0,205:205:99:7235,616,0:127	0|0:228,1:229:99:0,644,7812:127
11	36293048	.	G	A	7633.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=133;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs7107433;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7107433" target="_blank">rs7107433</a>;ExAC.Info.AC=18155;ExAC.Info.AN=35780;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=5685;ExAC.Info.AC_Hom=4727;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.524C>T;snpeff.Gene_Name=LINC00610;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LINC00610" target="_blank">LINC00610</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000355500;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000355500;SAVANT_GENE=C11orf55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf55" target="_blank">C11orf55</a>;SAVANT_INFO=-/4.1kb/2/2.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.309C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf55+c.309C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36293048">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,43:43:99:1529,129,0:127	1|0:25,26:51:99:775,0,858:127	1|0:21,18:39:99:551,0,697:127
11	36422792	.	G	A	15799.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs330261;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=330261" target="_blank">rs330261</a>;ExAC.Info.AC=112749;ExAC.Info.AN=126696;ExAC.Info.AF=0.890;ExAC.Info.AC_Het=11421;ExAC.Info.AC_Hom=50458;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Act;snpeff.Amino_Acid_Change=p.Ala41Thr/c.121G>A;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=PRR5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRR5L" target="_blank">PRR5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530639;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378867;SAVANT_GENE=PRR5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRR5L" target="_blank">PRR5L</a>;SAVANT_INFO=+/89.2kb/10/3.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.121G>A_p.Ala41Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRR5L+c.121G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36422792">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2129,201,0:127	1|1:0,72:72:99:2498,216,0:127	1|1:0,64:64:99:2115,192,0:127
11	36472800	.	A	G	2084.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3740958;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740958" target="_blank">rs3740958</a>;ExAC.Info.AC=19925;ExAC.Info.AN=126704;ExAC.Info.AF=0.157;ExAC.Info.AC_Het=16078;ExAC.Info.AC_Hom=1921;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln209Gln/c.627A>G;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=PRR5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRR5L" target="_blank">PRR5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530639;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378867;SAVANT_GENE=PRR5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRR5L" target="_blank">PRR5L</a>;SAVANT_INFO=+/89.2kb/10/3.9kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.627A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRR5L+c.627A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36472800">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,1975:127	0|0:96,0:96:99:0,288,3163:127	0|1:46,37:83:99:1061,0,1424:127
11	36484167	.	C	T	1124.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11033639;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11033639" target="_blank">rs11033639</a>;ExAC.Info.AC=7838;ExAC.Info.AN=126598;ExAC.Info.AF=0.062;ExAC.Info.AC_Het=7069;ExAC.Info.AC_Hom=318;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro330Ser/c.988C>T;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=PRR5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRR5L" target="_blank">PRR5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530639;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378867;SAVANT_GENE=PRR5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRR5L" target="_blank">PRR5L</a>;SAVANT_INFO=+/89.2kb/10/3.9kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.988C>T_p.Pro330Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRR5L+c.988C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36484167">View</a>	GT:AD:DP:GQ:PL:TP	0|0:29,0:29:87:0,87,1026:74	0|1:24,24:48:99:581,0,690:74	0|0:25,0:25:75:0,75,910:74
11	36484208	.	T	C	8044.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=96;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs514352;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=514352" target="_blank">rs514352</a>;ExAC.Info.AC=126077;ExAC.Info.AN=126308;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=212;ExAC.Info.AC_Hom=60918;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr343Thr/c.1029T>C;snpeff.Amino_Acid_length=368;snpeff.Gene_Name=PRR5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRR5L" target="_blank">PRR5L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530639;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378867;SAVANT_GENE=PRR5L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRR5L" target="_blank">PRR5L</a>;SAVANT_INFO=+/89.2kb/10/3.9kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1029T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRR5L+c.1029T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36484208">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:925,87,0:66	1|1:0,45:45:99:1533,135,0:66	1|1:0,22:22:66:747,66,0:66
11	36514290	.	T	C	21805.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2303439;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2303439" target="_blank">rs2303439</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.679-112A>G;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=TRAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF6" target="_blank">TRAF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526995;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526995;SAVANT_GENE=TRAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF6" target="_blank">TRAF6</a>;SAVANT_INFO=-/23.2kb/7/4.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.679-112A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF6+c.679-112A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36514290">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,99:99:99:3463,297,0:127	1|1:0,93:93:99:3571,280,0:127	1|1:0,109:109:99:4119,327,0:127
11	36518824	.	T	TA	26031.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=405;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3830511;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3830511" target="_blank">rs3830511</a>;ExAC.Info.AC=104051;ExAC.Info.AN=126660;ExAC.Info.AF=0.821;ExAC.Info.AC_Het=17572;ExAC.Info.AC_Hom=42493;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.448-8_448-9insT;snpeff.Amino_Acid_length=522;snpeff.Gene_Name=TRAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF6" target="_blank">TRAF6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526995;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000526995;SAVANT_GENE=TRAF6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAF6" target="_blank">TRAF6</a>;SAVANT_INFO=-/23.2kb/7/4.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.448-9dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRAF6+c.448-9dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36518824">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,128:129:99:3833,357,0:127	1|1:2,162:164:99:4887,441,0:127	1|1:0,112:112:99:3390,336,0:127
11	36595600	.	A	G	13082.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=319;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Severe_combined_immunodeficiency|_B_cell-negative|_601457_(3)|_Omenn_syndrome|__603554_(3)|_Alpha/beta_T-cell_lymphopenia_with_gamma/delta_T-cell_expansion|_severe_cytomegalovirus_infection|_and_autoimmunity|_609889_(3)|_Combined_cellular_and_humoral_immune_defects_with_granulomas|_233650_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3740955;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740955" target="_blank">rs3740955</a>;hgmd_2014.2.CLASS=DM?;hgmd_2014.2.PHEN=Immunodeficiency|_severe_combined;hgmd_2014.2.OMIM_ID=179615;hgmd_2014.2.PubMed=22424479;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=22424479" target="_blank">22424479</a>;ExAC.Info.AC=56300;ExAC.Info.AN=126704;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=27423;ExAC.Info.AC_Hom=14424;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_importin_alpha-1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.746A>G;snpeff.Amino_Acid_length=1043;snpeff.Gene_Name=RAG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG1" target="_blank">RAG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His249Arg/c.746A>G;snpeff.Amino_Acid_length=1043;snpeff.Gene_Name=RAG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG1" target="_blank">RAG1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299440;SAVANT_GENE=RAG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG1" target="_blank">RAG1</a>;SAVANT_INFO=+/11.7kb/2/6.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.746A>G_p.His249Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAG1+c.746A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36595600">View</a>	GT:AD:DP:GQ:PL:TP	0/1:52,51:103:99:1454,0,1433:127	0/1:50,76:126:99:2366,0,1343:127	0/1:34,56:90:99:1760,0,984:127
11	36597313	.	A	G	4708.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=471;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Severe_combined_immunodeficiency|_B_cell-negative|_601457_(3)|_Omenn_syndrome|__603554_(3)|_Alpha/beta_T-cell_lymphopenia_with_gamma/delta_T-cell_expansion|_severe_cytomegalovirus_infection|_and_autoimmunity|_609889_(3)|_Combined_cellular_and_humoral_immune_defects_with_granulomas|_233650_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D|D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2227973;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2227973" target="_blank">rs2227973</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Non-Hodgkin_lymphoma|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=179615;hgmd_2014.2.PubMed=16857995;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16857995" target="_blank">16857995</a>;ExAC.Info.AC=23511;ExAC.Info.AN=126704;ExAC.Info.AF=0.186;ExAC.Info.AC_Het=16310;ExAC.Info.AC_Hom=3589;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RAG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG2" target="_blank">RAG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys820Arg/c.2459A>G;snpeff.Amino_Acid_length=1043;snpeff.Gene_Name=RAG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG2" target="_blank">RAG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000299440;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000299440;SAVANT_GENE=RAG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG1" target="_blank">RAG1</a>;SAVANT_INFO=+/11.7kb/2/6.6kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.2459A>G_p.Lys820Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAG1+c.2459A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36597313">View</a>	GT:AD:DP:GQ:PL:TP	0|0:134,2:136:99:0,359,4548:127	0|0:172,0:172:99:0,517,6374:127	0|1:82,81:163:99:2373,0,2598:127
11	36612090	.	C	T	1258.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1818545;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1818545" target="_blank">rs1818545</a>;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RAG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG2" target="_blank">RAG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RAG1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG2" target="_blank">RAG2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG2" target="_blank">RAG2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAG2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36612090">View</a>	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,1034:89	0|0:40,0:40:99:0,120,1375:89	0|1:21,23:44:99:648,0,609:89
11	36669778	.	C	T	9675.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=279;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Severe_combined_immunodeficiency|_B_cell-negative|_601457_(3)|_Omenn_syndrome|_603554_(3)|_Combined_cellular_and_humoral_immune_defects_with_granulomas|_233650_(3)|Severe_combined_immunodeficiency|_B_cell-negative|_601457_(3)|_Omenn_syndrome|_603554_(3)|_Combined_cellular_and_humoral_immune_defects_with_granulomas|_233650_(3)|Severe_combined_immunodeficiency|_B_cell-negative|_601457_(3)|_Omenn_syndrome|_603554_(3)|_Combined_cellular_and_humoral_immune_defects_with_granulomas|_233650_(3);dbSNP139.ID=rs1566245;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1566245" target="_blank">rs1566245</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.498+73C>T;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=C11orf74;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf74" target="_blank">C11orf74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334307;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334307;SAVANT_GENE=C11orf74;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf74" target="_blank">C11orf74</a>;SAVANT_INFO=+/64.8kb/6/0.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.498+73C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf74+c.498+73C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36669778">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,51:94:99:1357,0,1377:127	0/1:47,52:99:99:1533,0,1473:127	0/1:41,45:86:99:1302,0,1234:127
11	36680765	.	T	C	9469.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=432;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Severe_combined_immunodeficiency|_B_cell-negative|_601457_(3)|_Omenn_syndrome|_603554_(3)|_Combined_cellular_and_humoral_immune_defects_with_granulomas|_233650_(3)|Severe_combined_immunodeficiency|_B_cell-negative|_601457_(3)|_Omenn_syndrome|_603554_(3)|_Combined_cellular_and_humoral_immune_defects_with_granulomas|_233650_(3)|Severe_combined_immunodeficiency|_B_cell-negative|_601457_(3)|_Omenn_syndrome|_603554_(3)|_Combined_cellular_and_humoral_immune_defects_with_granulomas|_233650_(3);dbSNP139.ID=rs17549494;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17549494" target="_blank">rs17549494</a>;ExAC.Info.AC=3728;ExAC.Info.AN=126590;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=3499;ExAC.Info.AC_Hom=82;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=29;snpeff.Amino_Acid_Change=c.*29T>C;snpeff.Amino_Acid_length=221;snpeff.Gene_Name=C11orf74;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf74" target="_blank">C11orf74</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334307;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000334307;SAVANT_GENE=C11orf74;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf74" target="_blank">C11orf74</a>;SAVANT_INFO=+/64.8kb/6/0.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*29T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf74+c.*29T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:36680765">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,63:134:99:1795,0,2066:127	1|0:96,75:171:99:2235,0,2861:127	0|0:127,0:127:99:0,382,4538:127
11	40137543	.	T	C	4808.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2953310;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2953310" target="_blank">rs2953310</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=54331;ExAC.Info.AN=126702;ExAC.Info.AF=0.429;ExAC.Info.AC_Het=29265;ExAC.Info.AC_Hom=12516;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg100Arg/c.300A>G;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=LRRC4C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC4C" target="_blank">LRRC4C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527150;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278198;SAVANT_GENE=LRRC4C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC4C" target="_blank">LRRC4C</a>;SAVANT_INFO=-/179.9kb/2/4.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.300A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC4C+c.300A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:40137543">View</a>	GT:AD:DP:GQ:PL:TP	0|0:141,0:141:99:0,424,4576:127	0|1:85,81:166:99:2423,0,2426:127	0|0:149,0:149:99:0,448,5053:127
11	40137800	.	C	T	1760.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=175;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72885369;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72885369" target="_blank">rs72885369</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=287;ExAC.Info.AN=126698;ExAC.Info.AF=2.265e-03;ExAC.Info.AC_Het=287;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggt/Agt;snpeff.Amino_Acid_Change=p.Gly15Ser/c.43G>A;snpeff.Amino_Acid_length=640;snpeff.Gene_Name=LRRC4C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC4C" target="_blank">LRRC4C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000527150;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278198;SAVANT_GENE=LRRC4C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC4C" target="_blank">LRRC4C</a>;SAVANT_INFO=-/179.9kb/2/4.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.43G>A_p.Gly15Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC4C+c.43G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:40137800">View</a>	GT:AD:DP:GQ:PL:TP	0|0:64,0:64:99:0,192,2309:127	0|0:60,0:60:99:0,180,2161:127	0|1:21,30:51:99:899,0,553:127
11	42209292	.	T	G	13362.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=575;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs901894;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=901894" target="_blank">rs901894</a>;ExAC.Info.AC=4186;ExAC.Info.AN=14960;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=2539;ExAC.Info.AC_Hom=659;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CTD-2572N17.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-2572N171" target="_blank">CTD-2572N171</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-2572N171" target="_blank">CTD-2572N171</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTD-2572N171+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:42209292">View</a>	GT:AD:DP:GQ:PL:TP	1|0:91,95:186:99:2826,0,2385:127	0|0:217,0:217:99:0,651,7194:127	1|0:83,89:172:99:2451,0,2281:127
11	43343072	.	T	C	7316.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=196;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs5743221;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5743221" target="_blank">rs5743221</a>;ExAC.Info.AC=24326;ExAC.Info.AN=126610;ExAC.Info.AF=0.192;ExAC.Info.AC_Het=18402;ExAC.Info.AC_Hom=2811;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.391+46T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:ARM-like_and_Heat-like_helical_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:ARM-like_and_Heat-like_helical_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:ARM-like_and_Heat-like_helical_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:ARM-like_and_Heat-like_helical_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:ARM-like_and_Heat-like_helical_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:ARM-like_and_Heat-like_helical_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:ARM-like_and_Heat-like_helical_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:ARM-like_and_Heat-like_helical_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:ARM-like_and_Heat-like_helical_repeats];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.392T>C;snpeff.Amino_Acid_length=524;snpeff.Gene_Name=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531273;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531273;SAVANT_GENE=API5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=API5" target="_blank">API5</a>;SAVANT_INFO=+/30.7kb/14/1.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.391+46T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=API5+c.391+46T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43343072">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,25:55:99:678,0,796:127	0|0:71,1:72:99:0,171,2326:127	1|1:0,69:69:99:2363,206,0:127
11	43391648	.	C	T	11530.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=325;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs61156323;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61156323" target="_blank">rs61156323</a>;ExAC.Info.AC=1650;ExAC.Info.AN=14268;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=1188;ExAC.Info.AC_Hom=140;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.160-9135C>T;snpeff.Amino_Acid_length=1141;snpeff.Gene_Name=TTC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000039989;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000039989;SAVANT_GENE=TTC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;SAVANT_INFO=+/136.0kb/24/4.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.160-9135C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC17+c.160-9135C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43391648">View</a>	GT:AD:DP:GQ:PL:TP	1|0:42,66:108:99:1775,0,1152:127	0|0:108,0:108:99:0,325,3897:127	1|1:0,109:109:99:3670,328,0:127
11	43413157	.	TTTGCG	T	90.5	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=97;MQ=71.89;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs202071795;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202071795" target="_blank">rs202071795</a>;ExAC.Info.AC=45080;ExAC.Info.AN=124308;ExAC.Info.AF=0.363;ExAC.Info.AC_Het=32347;ExAC.Info.AC_Hom=94;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.531+32_531+36delTTGCG;snpeff.Amino_Acid_length=1141;snpeff.Gene_Name=TTC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000039989;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.51+1275_51+1279delTTGCG;snpeff.Gene_Name=RP11-484D2.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394183;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000039989;SAVANT_GENE=TTC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;SAVANT_INFO=+/136.0kb/24/4.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.531+39_531+43del5;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC17+c.531+39_531+43del5+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43413157">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,5:30:41:41,0,578:37	1|0:30,6:36:49:49,0,682:37	0|0:29,2:31:41:0,41,703:37
11	43413158	.	TTGCG	T	3669.61	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=94;MQ=71.89;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs67884453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67884453" target="_blank">rs67884453</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.531+33_531+36delTGCG;snpeff.Amino_Acid_length=1141;snpeff.Gene_Name=TTC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000039989;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.51+1276_51+1279delTGCG;snpeff.Gene_Name=RP11-484D2.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000394183;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000039989;SAVANT_GENE=TTC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;SAVANT_INFO=+/136.0kb/24/4.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.531+34_531+37delGCGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC17+c.531+34_531+37delGCGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43413158">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,21:28:96:458,0,96:12	0/1:10,25:35:99:535,0,165:12	0/1:4,27:31:12:597,0,12:12
11	43515304	.	C	G	4474.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=195;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs12276980;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12276980" target="_blank">rs12276980</a>;ExAC.Info.AC=40734;ExAC.Info.AN=126704;ExAC.Info.AF=0.321;ExAC.Info.AC_Het=25537;ExAC.Info.AC_Hom=7592;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3295-19C>G;snpeff.Amino_Acid_length=1141;snpeff.Gene_Name=TTC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000039989;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3295C>G;snpeff.Amino_Acid_length=1141;snpeff.Gene_Name=TTC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000039989;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:TPR_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3295C>G;snpeff.Amino_Acid_length=1141;snpeff.Gene_Name=TTC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000039989;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000039989;SAVANT_GENE=TTC17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC17" target="_blank">TTC17</a>;SAVANT_INFO=+/136.0kb/24/4.5kb;SAVANT_LOC=In23/24;SAVANT_HGVS=c.3295-19C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TTC17+c.3295-19C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43515304">View</a>	GT:AD:DP:GQ:PL:TP	0|1:35,28:63:99:825,0,1095:127	1|0:36,36:72:99:1179,0,1178:127	0|0:60,0:60:99:0,180,2275:127
11	43702530	.	A	G	3123.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs56168061;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56168061" target="_blank">rs56168061</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=21506;ExAC.Info.AN=126326;ExAC.Info.AF=0.170;ExAC.Info.AC_Het=15943;ExAC.Info.AC_Hom=2054;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaA/gaG;snpeff.Amino_Acid_Change=p.Glu51Glu/c.153A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278353;SAVANT_GENE=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;SAVANT_INFO=+/175.9kb/11/2.4kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.153A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B12+c.153A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43702530">View</a>	GT:AD:DP:GQ:PL:TP	0/1:12,6:18:99:192,0,376:127	0/1:15,19:34:99:637,0,443:127	0/1:14,9:23:99:311,0,481:127
11	43702581	.	G	A	800.77	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=53;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs4573669;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4573669" target="_blank">rs4573669</a>;ExAC.Info.AC=87141;ExAC.Info.AN=121156;ExAC.Info.AF=0.719;ExAC.Info.AC_Het=12377;ExAC.Info.AC_Hom=19135;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.160+44G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.161G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.161G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:NADP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.161G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278353;SAVANT_GENE=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;SAVANT_INFO=+/175.9kb/11/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.160+44G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B12+c.160+44G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43702581">View</a>	GT:AD:DP:GQ:PL:TP	0|0:8,0:8:24:0,24,275:24	0|1:12,12:24:99:419,0,354:24	0|0:21,0:21:63:0,63,796:24
11	43776481	.	C	T	24180.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=383;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7115919;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7115919" target="_blank">rs7115919</a>;ExAC.Info.AC=77732;ExAC.Info.AN=116248;ExAC.Info.AF=0.669;ExAC.Info.AC_Het=24676;ExAC.Info.AC_Hom=26143;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.283+810C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278353;SAVANT_GENE=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;SAVANT_INFO=+/175.9kb/11/2.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.283+810C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B12+c.283+810C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43776481">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,119:119:99:3733,357,0:127	1|0:74,65:139:99:1856,0,2105:127	1|1:0,125:125:99:4293,376,0:127
11	43837146	.	G	A	1154.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=182;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72894447;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72894447" target="_blank">rs72894447</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.456+95G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278353;SAVANT_GENE=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;SAVANT_INFO=+/175.9kb/11/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.456+95G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B12+c.456+95G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43837146">View</a>	GT:AD:DP:GQ:PL:TP	0|0:50,0:50:99:0,150,1837:127	0|0:61,0:61:99:0,183,2189:127	0|1:47,24:71:99:596,0,1566:127
11	43876435	.	A	G	4552.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=524;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs3736505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3736505" target="_blank">rs3736505</a>;ExAC.Info.AC=41873;ExAC.Info.AN=126682;ExAC.Info.AF=0.331;ExAC.Info.AC_Het=27186;ExAC.Info.AC_Hom=7219;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-613D13.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D135" target="_blank">RP11-613D135</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.834+21A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D135" target="_blank">RP11-613D135</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D135" target="_blank">RP11-613D135</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.835A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D135" target="_blank">RP11-613D135</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278353;SAVANT_GENE=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;SAVANT_INFO=+/175.9kb/11/2.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.834+21A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B12+c.834+21A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43876435">View</a>	GT:AD:DP:GQ:PL:TP	0|0:176,0:176:99:0,529,5579:127	0|1:95,85:180:99:2295,0,2627:127	0|0:168,0:168:99:0,504,5575:127
11	43876698	.	C	T	2166.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11555762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11555762" target="_blank">rs11555762</a>;ExAC.Info.AC=41776;ExAC.Info.AN=126686;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=27179;ExAC.Info.AC_Hom=7243;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-613D13.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D135" target="_blank">RP11-613D135</a>;snpeff.Gene_Coding=NON_CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.839C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D135" target="_blank">RP11-613D135</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.839C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D135" target="_blank">RP11-613D135</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCg/tTg;snpeff.Amino_Acid_Change=p.Ser280Leu/c.839C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D135" target="_blank">RP11-613D135</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278353;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278353;SAVANT_GENE=HSD17B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B12" target="_blank">HSD17B12</a>;SAVANT_INFO=+/175.9kb/11/2.4kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.839C>T_p.Ser280Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=HSD17B12+c.839C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43876698">View</a>	GT:AD:DP:GQ:PL:TP	0|0:73,0:73:99:0,219,2437:127	0|1:45,37:82:99:1102,0,1361:127	0|0:91,0:91:99:0,273,2941:127
11	43905484	.	T	G	3850.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=321;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2271817;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271817" target="_blank">rs2271817</a>;ExAC.Info.AC=35665;ExAC.Info.AN=126696;ExAC.Info.AF=0.282;ExAC.Info.AC_Het=23929;ExAC.Info.AC_Hom=5852;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.184-49T>G;snpeff.Amino_Acid_length=286;snpeff.Gene_Name=ALKBH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3" target="_blank">ALKBH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302708;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302708;SAVANT_GENE=ALKBH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3" target="_blank">ALKBH3</a>;SAVANT_INFO=+/39.4kb/10/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.184-49T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALKBH3+c.184-49T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43905484">View</a>	GT:AD:DP:GQ:PL:TP	0|0:77,0:77:99:0,232,2856:127	0|0:117,0:117:99:0,352,4433:127	0|1:61,66:127:99:1944,0,1917:127
11	43911365	.	T	C	20605.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=235;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2434478;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2434478" target="_blank">rs2434478</a>;ExAC.Info.AC=126572;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=128;ExAC.Info.AC_Hom=63201;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357T>C;snpeff.Amino_Acid_length=286;snpeff.Gene_Name=ALKBH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3" target="_blank">ALKBH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302708;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.357T>C;snpeff.Amino_Acid_length=286;snpeff.Gene_Name=ALKBH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3" target="_blank">ALKBH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302708;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr119Thr/c.357T>C;snpeff.Amino_Acid_length=286;snpeff.Gene_Name=ALKBH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3" target="_blank">ALKBH3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302708;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302708;SAVANT_GENE=ALKBH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3" target="_blank">ALKBH3</a>;SAVANT_INFO=+/39.4kb/10/1.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.357T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALKBH3+c.357T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43911365">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2448,210,0:127	1|1:0,77:77:99:2771,231,0:127	1|1:0,88:88:99:3097,265,0:127
11	43940644	.	G	T	8461.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=216;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1048928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1048928" target="_blank">rs1048928</a>;ExAC.Info.AC=82546;ExAC.Info.AN=126704;ExAC.Info.AF=0.651;ExAC.Info.AC_Het=27060;ExAC.Info.AC_Hom=27740;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.209+492C>A;snpeff.Gene_Name=ALKBH3-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3-AS1" target="_blank">ALKBH3-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000499194;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fe2OG_dioxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726G>T;snpeff.Amino_Acid_length=286;snpeff.Gene_Name=ALKBH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3-AS1" target="_blank">ALKBH3-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302708;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fe2OG_dioxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726G>T;snpeff.Amino_Acid_length=286;snpeff.Gene_Name=ALKBH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3-AS1" target="_blank">ALKBH3-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302708;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fe2OG_dioxygenase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.726G>T;snpeff.Amino_Acid_length=286;snpeff.Gene_Name=ALKBH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3-AS1" target="_blank">ALKBH3-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302708;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggG/ggT;snpeff.Amino_Acid_Change=p.Gly242Gly/c.726G>T;snpeff.Amino_Acid_length=286;snpeff.Gene_Name=ALKBH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3-AS1" target="_blank">ALKBH3-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302708;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302708;SAVANT_GENE=ALKBH3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALKBH3" target="_blank">ALKBH3</a>;SAVANT_INFO=+/39.4kb/10/1.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.726G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALKBH3+c.726G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43940644">View</a>	GT:AD:DP:GQ:PL:TP	0|1:32,40:72:99:960,0,841:127	1|1:0,77:77:99:2545,231,0:127	0|1:49,18:67:99:418,0,1398:127
11	43946967	.	A	G	8740.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=153;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1973717;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1973717" target="_blank">rs1973717</a>;ExAC.Info.AC=9862;ExAC.Info.AN=15768;ExAC.Info.AF=0.625;ExAC.Info.AC_Het=2236;ExAC.Info.AC_Hom=3132;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96+4246A>G;snpeff.Gene_Name=RP11-613D13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526408;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acg/Gcg;snpeff.Amino_Acid_Change=p.Thr26Ala/c.76A>G;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339446;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339446;SAVANT_GENE=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;SAVANT_INFO=+/17.9kb/4/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.76A>G_p.Thr26Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf96+c.76A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43946967">View</a>	GT:AD:DP:GQ:PL:TP	0|1:24,12:36:99:353,0,649:127	1|1:0,74:74:99:2697,222,0:127	0|1:23,20:43:99:605,0,613:127
11	43947990	.	T	C	12056.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12797684;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12797684" target="_blank">rs12797684</a>;ExAC.Info.AC=9658;ExAC.Info.AN=14634;ExAC.Info.AF=0.660;ExAC.Info.AC_Het=2172;ExAC.Info.AC_Hom=3019;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96+5269T>C;snpeff.Gene_Name=RP11-613D13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526408;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tca/Cca;snpeff.Amino_Acid_Change=p.Ser47Pro/c.139T>C;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339446;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339446;SAVANT_GENE=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;SAVANT_INFO=+/17.9kb/4/1.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.139T>C_p.Ser47Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf96+c.139T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43947990">View</a>	GT:AD:DP:GQ:PL:TP	0|1:40,37:77:99:1061,0,974:127	1|1:0,83:83:99:3228,250,0:127	0|1:38,27:65:99:817,0,1035:127
11	43963843	.	C	A	5867.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=220;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12796438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12796438" target="_blank">rs12796438</a>;ExAC.Info.AC=502;ExAC.Info.AN=17578;ExAC.Info.AF=0.029;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.153+9147C>A;snpeff.Gene_Name=RP11-613D13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526408;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Agc;snpeff.Amino_Acid_Change=p.Arg110Ser/c.328C>A;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339446;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339446;SAVANT_GENE=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;SAVANT_INFO=+/17.9kb/4/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.328C>A_p.Arg110Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf96+c.328C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43963843">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,38:70:99:980,0,861:127	0|0:92,0:92:99:0,276,3353:127	1|0:30,28:58:99:827,0,904:127
11	43963923	.	T	C	5462.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs12798163;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12798163" target="_blank">rs12798163</a>;ExAC.Info.AC=207;ExAC.Info.AN=11678;ExAC.Info.AF=0.018;ExAC.Info.AC_Het=18;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.153+9227T>C;snpeff.Gene_Name=RP11-613D13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526408;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgT/tgC;snpeff.Amino_Acid_Change=p.Cys136Cys/c.408T>C;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339446;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339446;SAVANT_GENE=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;SAVANT_INFO=+/17.9kb/4/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.408T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf96+c.408T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43963923">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,19:35:99:702,0,519:127	0|0:73,0:73:99:0,229,3191:127	1|0:32,23:55:99:823,0,1188:127
11	43963945	.	C	T	4707.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=145;MQ=69.98;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12796667;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12796667" target="_blank">rs12796667</a>;ExAC.Info.AC=151;ExAC.Info.AN=10490;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=13;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.153+9249C>T;snpeff.Gene_Name=RP11-613D13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526408;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0059.1:Cmyc];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;snpeff.Effect=TF_binding_site_variant[MA0147.1:Cmyc];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg144Cys/c.430C>T;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339446;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339446;SAVANT_GENE=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;SAVANT_INFO=+/17.9kb/4/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.430C>T_p.Arg144Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf96+c.430C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43963945">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,20:33:99:857,0,501:127	0|0:68,0:68:99:0,208,3094:127	1|0:27,17:44:99:651,0,1114:127
11	43963967	.	T	C	3479.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=126;MQ=69.98;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12798337;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12798337" target="_blank">rs12798337</a>;ExAC.Info.AC=118;ExAC.Info.AN=9184;ExAC.Info.AF=0.013;ExAC.Info.AC_Het=8;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.153+9271T>C;snpeff.Gene_Name=RP11-613D13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526408;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTc/tCc;snpeff.Amino_Acid_Change=p.Phe151Ser/c.452T>C;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339446;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339446;SAVANT_GENE=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;SAVANT_INFO=+/17.9kb/4/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.452T>C_p.Phe151Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf96+c.452T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43963967">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,25:38:99:945,0,462:127	0|0:51,0:51:99:0,153,2209:127	1|0:24,13:37:99:465,0,925:127
11	43964569	.	C	T	4646.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=160;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2434483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2434483" target="_blank">rs2434483</a>;ExAC.Info.AC=1278;ExAC.Info.AN=23340;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=794;ExAC.Info.AC_Hom=40;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.153+9873C>T;snpeff.Gene_Name=RP11-613D13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526408;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Tcc;snpeff.Amino_Acid_Change=p.Pro352Ser/c.1054C>T;snpeff.Amino_Acid_length=435;snpeff.Gene_Name=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-613D134" target="_blank">RP11-613D134</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000339446;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000339446;SAVANT_GENE=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;SAVANT_INFO=+/17.9kb/4/1.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1054C>T_p.Pro352Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf96+c.1054C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43964569">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,32:57:99:819,0,780:127	0|0:56,0:56:99:0,168,2050:127	1|0:26,21:47:99:592,0,746:127
11	43964842	.	G	C	7347.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=143;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7077;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7077" target="_blank">rs7077</a>;ExAC.Info.AC=10248;ExAC.Info.AN=20532;ExAC.Info.AF=0.499;ExAC.Info.AC_Het=3114;ExAC.Info.AC_Hom=1866;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.153+10146G>C;snpeff.Gene_Name=RP11-613D13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526408;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf96+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43964842">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,20:48:99:539,0,843:127	1|1:0,51:51:99:1734,153,0:127	0|1:24,20:44:99:577,0,793:127
11	43964898	.	C	T	2585.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=93;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7524" target="_blank">rs7524</a>;ExAC.Info.AC=519;ExAC.Info.AN=12900;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=83;ExAC.Info.AC_Hom=8;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.153+10202C>T;snpeff.Gene_Name=RP11-613D13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526408;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf96+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43964898">View</a>	GT:AD:DP:GQ:PL:TP	1|0:13,20:33:99:629,0,405:96	0|0:32,0:32:96:0,96,1264:96	1|0:13,15:28:99:448,0,423:96
11	43965008	.	G	T	9091.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=354;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs9846;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9846" target="_blank">rs9846</a>;ExAC.Info.AC=16;ExAC.Info.AN=16888;ExAC.Info.AF=9.474e-04;ExAC.Info.AC_Het=5;ExAC.Info.AC_Hom=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=C11orf96;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.153+10312G>T;snpeff.Gene_Name=RP11-613D13.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000526408;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf96" target="_blank">C11orf96</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf96+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:43965008">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,52:112:99:1381,0,1754:127	0|0:138,1:139:99:0,380,4809:127	1|0:44,59:103:99:1769,0,1341:127
11	44070116	.	C	A	27.56	LowQual	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=34;MQ=69.77;MQ0=0;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;ExAC.Info.AC=13648;ExAC.Info.AN=119978;ExAC.Info.AF=0.114;ExAC.Info.AC_Het=11168;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.504+26C>A;snpeff.Amino_Acid_length=568;snpeff.Gene_Name=ACCSL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCSL" target="_blank">ACCSL</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378832;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378832;SAVANT_GENE=ACCSL;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCSL" target="_blank">ACCSL</a>;SAVANT_INFO=+/12.0kb/14/1.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.504+26C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACCSL+c.504+26C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44070116">View</a>	GT:AD:DP:GQ:PL:TP	0|1:4,1:5:17:17,0,156:11	1|0:15,3:18:23:23,0,453:11	0|0:9,2:11:12:0,12,270:11
11	44089161	.	G	A	18376.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=223;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs178514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=178514" target="_blank">rs178514</a>;ExAC.Info.AC=98529;ExAC.Info.AN=126510;ExAC.Info.AF=0.779;ExAC.Info.AC_Het=19516;ExAC.Info.AC_Hom=37509;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1-17G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263776;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263776;SAVANT_GENE=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;SAVANT_INFO=+/17.9kb/15/2.4kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-17G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACCS+c.-17G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44089161">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2457,201,0:127	1|1:0,98:98:99:3413,295,0:127	1|1:0,58:58:99:2177,174,0:127
11	44089352	.	G	A	8963.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs33952257;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=33952257" target="_blank">rs33952257</a>;ExAC.Info.AC=23073;ExAC.Info.AN=126704;ExAC.Info.AF=0.182;ExAC.Info.AC_Het=17491;ExAC.Info.AC_Hom=2785;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gat/Aat;snpeff.Amino_Acid_Change=p.Asp59Asn/c.175G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263776;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263776;SAVANT_GENE=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;SAVANT_INFO=+/17.9kb/15/2.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.175G>A_p.Asp59Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACCS+c.175G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44089352">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,79:158:99:2072,0,2441:127	0|0:180,0:180:99:0,540,6726:127	1|0:47,63:110:99:1674,0,1383:127
11	44096238	.	G	A	38166.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=636;MQ=69.96;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs178521;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=178521" target="_blank">rs178521</a>;ExAC.Info.AC=93711;ExAC.Info.AN=126702;ExAC.Info.AF=0.740;ExAC.Info.AC_Het=23545;ExAC.Info.AC_Hom=35070;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.489+7G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263776;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263776;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263776;SAVANT_GENE=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;SAVANT_INFO=+/17.9kb/15/2.4kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.489+7G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACCS+c.489+7G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44096238">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,197:197:99:6142,591,0:127	1|0:114,123:237:99:3279,0,3376:127	1|1:0,202:202:99:6486,606,0:127
11	44097226	.	A	G	5473.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs178523;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=178523" target="_blank">rs178523</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.556+84A>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263776;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263776;SAVANT_GENE=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;SAVANT_INFO=+/17.9kb/15/2.4kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.556+84A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACCS+c.556+84A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44097226">View</a>	GT:AD:DP:GQ:PL:TP	0/1:19,21:40:99:672,0,529:127	0/1:25,31:56:99:949,0,757:127	0/1:25,30:55:99:976,0,739:127
11	44098985	.	G	A	9741.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2074043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2074043" target="_blank">rs2074043</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.654+59G>A;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263776;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263776;SAVANT_GENE=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;SAVANT_INFO=+/17.9kb/15/2.4kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.654+59G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACCS+c.654+59G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44098985">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,51:121:99:1627,0,2069:127	0|0:162,0:162:99:0,487,5959:127	1|0:65,63:128:99:1987,0,1980:127
11	44104701	.	C	CCT	21317.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=238;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs79395013;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79395013" target="_blank">rs79395013</a>;ExAC.Info.AC=93885;ExAC.Info.AN=126696;ExAC.Info.AF=0.741;ExAC.Info.AC_Het=23460;ExAC.Info.AC_Hom=35188;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1112-17_1112-16insCT;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263776;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000263776;SAVANT_GENE=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;SAVANT_INFO=+/17.9kb/15/2.4kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1112-15_1112-14dupCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACCS+c.1112-15_1112-14dupCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44104701">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:3069,214,0:127	1|0:47,42:89:99:1559,0,1753:127	1|1:0,79:79:99:3513,247,0:127
11	44104885	.	T	G	7498.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=346;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3107274;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3107274" target="_blank">rs3107274</a>;ExAC.Info.AC=34945;ExAC.Info.AN=126694;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=24668;ExAC.Info.AC_Hom=5101;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1254+24T>G;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263776;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263776;SAVANT_GENE=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;SAVANT_INFO=+/17.9kb/15/2.4kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1254+24T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACCS+c.1254+24T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44104885">View</a>	GT:AD:DP:GQ:PL:TP	1|0:59,43:102:99:1235,0,1733:127	0|0:137,0:137:99:0,412,5038:127	1|0:54,53:107:99:1524,0,1630:127
11	44104981	.	C	T	7671.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3107275;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3107275" target="_blank">rs3107275</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Lung_cancer|_susceptibility_to|_association_with;hgmd_2014.2.OMIM_ID=608405;hgmd_2014.2.PubMed=16741161;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16741161" target="_blank">16741161</a>;ExAC.Info.AC=50336;ExAC.Info.AN=126702;ExAC.Info.AF=0.397;ExAC.Info.AC_Het=29592;ExAC.Info.AC_Hom=10262;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCc/cTc;snpeff.Amino_Acid_Change=p.Pro421Leu/c.1262C>T;snpeff.Amino_Acid_length=501;snpeff.Gene_Name=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263776;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263776;SAVANT_GENE=ACCS;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACCS" target="_blank">ACCS</a>;SAVANT_INFO=+/17.9kb/15/2.4kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1262C>T_p.Pro421Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACCS+c.1262C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44104981">View</a>	GT:AD:DP:GQ:PL:TP	1|0:38,51:89:99:1528,0,1012:127	0|0:132,0:132:99:0,396,4917:127	1|0:50,49:99:99:1488,0,1401:127
11	44117898	.	T	G	4795.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=78;MQ=69.89;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;OMIM_phenotypes.name=Exostoses|_multiple|_type_2|_133701_(3);dbSNP139.ID=rs11037860;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11037860" target="_blank">rs11037860</a>;ExAC.Info.AC=14873;ExAC.Info.AN=23998;ExAC.Info.AF=0.620;ExAC.Info.AC_Het=2692;ExAC.Info.AC_Hom=3580;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.69+27T>G;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=EXT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXT2" target="_blank">EXT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395673;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395673;SAVANT_GENE=EXT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXT2" target="_blank">EXT2</a>;SAVANT_INFO=+/149.2kb/14/3.5kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.69+27T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXT2+c.69+27T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44117898">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:858,69,0:67	1|0:21,10:31:99:301,0,628:67	1|1:0,24:24:72:815,72,0:67
11	44151577	.	T	A	27240.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=962;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Exostoses|_multiple|_type_2|_133701_(3);dbSNP139.ID=rs11037882;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11037882" target="_blank">rs11037882</a>;ExAC.Info.AC=41402;ExAC.Info.AN=126702;ExAC.Info.AF=0.327;ExAC.Info.AC_Het=25703;ExAC.Info.AC_Hom=7818;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1179-18T>A;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=EXT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXT2" target="_blank">EXT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395673;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395673;SAVANT_GENE=EXT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXT2" target="_blank">EXT2</a>;SAVANT_INFO=+/149.2kb/14/3.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1179-18T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXT2+c.1179-18T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44151577">View</a>	GT:AD:DP:GQ:PL:TP	0/1:141,135:276:99:3590,0,3902:127	0/1:203,187:390:99:4960,0,5851:127	0/1:149,147:296:99:4102,0,4278:127
11	44255614	.	T	C	13128.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Exostoses|_multiple|_type_2|_133701_(3);dbSNP139.ID=rs11037909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11037909" target="_blank">rs11037909</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes|_type_2|_reduced_risk|_association_with;hgmd_2014.2.OMIM_ID=608210;hgmd_2014.2.PubMed=17293876;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17293876" target="_blank">17293876</a>;ExAC.Info.AC=38775;ExAC.Info.AN=126676;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=25090;ExAC.Info.AC_Hom=6639;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1906-51T>C;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=EXT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXT2" target="_blank">EXT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395673;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395673;SAVANT_GENE=EXT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXT2" target="_blank">EXT2</a>;SAVANT_INFO=+/149.2kb/14/3.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1906-51T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXT2+c.1906-51T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44255614">View</a>	GT:AD:DP:GQ:PL:TP	0/1:80,60:140:99:1672,0,2266:127	0/1:75,70:145:99:2140,0,2097:127	0/1:71,80:151:99:2497,0,2032:127
11	44257802	.	T	C	9043.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=281;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;OMIM_phenotypes.name=Exostoses|_multiple|_type_2|_133701_(3);dbSNP139.ID=rs3740878;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740878" target="_blank">rs3740878</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Diabetes|_type_2|_reduced_risk|_association_with;hgmd_2014.2.OMIM_ID=608210;hgmd_2014.2.PubMed=17293876;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17293876" target="_blank">17293876</a>;ExAC.Info.AC=38341;ExAC.Info.AN=126704;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=24805;ExAC.Info.AC_Hom=6696;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2035-41T>C;snpeff.Amino_Acid_length=751;snpeff.Gene_Name=EXT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXT2" target="_blank">EXT2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395673;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395673;SAVANT_GENE=EXT2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=EXT2" target="_blank">EXT2</a>;SAVANT_INFO=+/149.2kb/14/3.5kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.2035-41T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=EXT2+c.2035-41T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44257802">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,47:86:99:1316,0,960:127	0/1:56,50:106:99:1290,0,1461:127	0/1:47,42:89:99:1131,0,1329:127
11	44286566	.	G	A	10090.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=204;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Parietal_foramina_2|_609597_(3)|_Frontonasal_dysplasia_2|_613451_(3)|_{Craniosynostosis_5|_susceptibility_to}|_615529_(3);dbSNP139.ID=rs3802805;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802805" target="_blank">rs3802805</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=45224;ExAC.Info.AN=126252;ExAC.Info.AF=0.358;ExAC.Info.AC_Het=26771;ExAC.Info.AC_Hom=8878;snpeff.Effect=TF_binding_site_variant[MA0093.1:USF1];snpeff.Effect_Impact=LOW;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His358His/c.1074C>T;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329255;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329255;SAVANT_GENE=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;SAVANT_INFO=-/49.7kb/4/5.8kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.1074C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALX4+c.1074C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44286566">View</a>	GT:AD:DP:GQ:PL:TP	0|1:39,38:77:99:1032,0,1049:127	1|1:0,67:67:99:2359,201,0:127	0|1:21,39:60:99:1110,0,595:127
11	44296946	.	C	T	8728.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Parietal_foramina_2|_609597_(3)|_Frontonasal_dysplasia_2|_613451_(3)|_{Craniosynostosis_5|_susceptibility_to}|_615529_(3);dbSNP139.ID=rs11037928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11037928" target="_blank">rs11037928</a>;ExAC.Info.AC=11351;ExAC.Info.AN=126704;ExAC.Info.AF=0.090;ExAC.Info.AC_Het=10144;ExAC.Info.AC_Hom=601;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729C>T;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329255;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729C>T;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329255;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:Homeobox];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.729C>T;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329255;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala243Ala/c.729G>A;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329255;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329255;SAVANT_GENE=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;SAVANT_INFO=-/49.7kb/4/5.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.729G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALX4+c.729G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44296946">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,60:123:99:1566,0,1936:127	1|0:86,76:162:99:2057,0,2480:127	0|0:134,0:134:99:0,403,4602:127
11	44297054	.	T	C	47767.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=586;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Parietal_foramina_2|_609597_(3)|_Frontonasal_dysplasia_2|_613451_(3)|_{Craniosynostosis_5|_susceptibility_to}|_615529_(3);dbSNP139.ID=rs10769028;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769028" target="_blank">rs10769028</a>;ExAC.Info.AC=126398;ExAC.Info.AN=126704;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=304;ExAC.Info.AC_Hom=63044;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser207Ser/c.621A>G;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329255;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329255;SAVANT_GENE=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;SAVANT_INFO=-/49.7kb/4/5.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.621A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALX4+c.621A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44297054">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,178:178:99:6441,535,0:127	1|1:0,232:232:99:8127,697,0:127	1|1:0,176:176:99:6234,529,0:127
11	44297253	.	A	G	11093.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=127;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Parietal_foramina_2|_609597_(3)|_Frontonasal_dysplasia_2|_613451_(3)|_{Craniosynostosis_5|_susceptibility_to}|_615529_(3);dbSNP139.ID=rs11037929;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11037929" target="_blank">rs11037929</a>;ExAC.Info.AC=120931;ExAC.Info.AN=126520;ExAC.Info.AF=0.956;ExAC.Info.AC_Het=4572;ExAC.Info.AC_Hom=54222;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.467-45T>C;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329255;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329255;SAVANT_GENE=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;SAVANT_INFO=-/49.7kb/4/5.8kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.467-45T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALX4+c.467-45T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44297253">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,38:38:99:1420,114,0:119	1|1:0,49:49:99:1867,147,0:119	1|1:0,40:40:99:1545,120,0:119
11	44331509	.	C	G	9301.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=399;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Parietal_foramina_2|_609597_(3)|_Frontonasal_dysplasia_2|_613451_(3)|_{Craniosynostosis_5|_susceptibility_to}|_615529_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3824915;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3824915" target="_blank">rs3824915</a>;ExAC.Info.AC=60224;ExAC.Info.AN=125072;ExAC.Info.AF=0.482;ExAC.Info.AC_Het=20176;ExAC.Info.AC_Hom=11656;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aCg;snpeff.Amino_Acid_Change=p.Arg35Thr/c.104G>C;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000329255;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000329255;SAVANT_GENE=ALX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX4" target="_blank">ALX4</a>;SAVANT_INFO=-/49.7kb/4/5.8kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.104G>C_p.Arg35Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ALX4+c.104G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44331509">View</a>	GT:AD:DP:GQ:PL:TP	0|1:79,50:129:99:1356,0,2196:127	1|0:71,66:137:99:1722,0,2112:127	0|0:133,0:133:99:0,400,4598:127
11	44585933	.	T	C	5720.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs934178;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=934178" target="_blank">rs934178</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=934178" target="_blank">rs934178</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44585933">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,21:48:99:569,0,773:101	0|1:18,19:37:99:565,0,448:101	1|1:0,34:34:99:1154,102,0:101
11	44640268	.	A	G	3678.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1139971;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1139971" target="_blank">rs1139971</a>;ExAC.Info.AC=81125;ExAC.Info.AN=126680;ExAC.Info.AF=0.640;ExAC.Info.AC_Het=27995;ExAC.Info.AC_Hom=26298;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=CD82;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD82" target="_blank">CD82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227155;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.721A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=CD82;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD82" target="_blank">CD82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227155;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile241Val/c.721A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=CD82;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD82" target="_blank">CD82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227155;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227155;SAVANT_GENE=CD82;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD82" target="_blank">CD82</a>;SAVANT_INFO=+/54.8kb/10/2.3kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.721A>G_p.Ile241Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD82+c.721A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44640268">View</a>	GT:AD:DP:GQ:PL:TP	0|1:22,15:37:99:411,0,610:127	1|0:35,34:69:99:971,0,1060:127	0|0:64,0:64:99:0,192,2205:127
11	44640477	.	A	G	6299.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11038081;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11038081" target="_blank">rs11038081</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.727-122A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=CD82;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD82" target="_blank">CD82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227155;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.727A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=CD82;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD82" target="_blank">CD82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227155;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.727A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=CD82;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD82" target="_blank">CD82</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227155;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227155;SAVANT_GENE=CD82;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD82" target="_blank">CD82</a>;SAVANT_INFO=+/54.8kb/10/2.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.727-122A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD82+c.727-122A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44640477">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,46:91:99:1357,0,1240:127	1|0:53,37:90:99:961,0,1687:127	0|0:59,0:59:99:0,177,2038:127
11	44919366	.	G	A	5289.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11038189;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11038189" target="_blank">rs11038189</a>;ExAC.Info.AC=679;ExAC.Info.AN=19216;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=534;ExAC.Info.AC_Hom=24;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TP53I11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TSPAN18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340160;SAVANT_GENE=TSPAN18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN18" target="_blank">TSPAN18</a>;SAVANT_INFO=+/168.0kb/9/4.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-8602G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN18+c.-8602G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44919366">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,26:76:99:674,0,1367:127	0|0:124,0:124:99:0,372,4278:127	1|0:60,48:108:99:1375,0,1556:127
11	44919413	.	T	C	3195.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11038190;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11038190" target="_blank">rs11038190</a>;ExAC.Info.AC=862;ExAC.Info.AN=21584;ExAC.Info.AF=0.040;ExAC.Info.AC_Het=598;ExAC.Info.AC_Hom=29;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TP53I11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TSPAN18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340160;SAVANT_GENE=TSPAN18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN18" target="_blank">TSPAN18</a>;SAVANT_INFO=+/168.0kb/9/4.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-8555T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN18+c.-8555T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44919413">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,14:49:99:321,0,990:127	0|0:86,0:86:99:0,258,2949:127	1|0:38,32:70:99:919,0,1067:127
11	44925038	.	A	G	8912.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11038198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11038198" target="_blank">rs11038198</a>;ExAC.Info.AC=4691;ExAC.Info.AN=23122;ExAC.Info.AF=0.203;ExAC.Info.AC_Het=2534;ExAC.Info.AC_Hom=529;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TP53I11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TSPAN18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340160;SAVANT_GENE=TSPAN18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN18" target="_blank">TSPAN18</a>;SAVANT_INFO=+/168.0kb/9/4.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-2930A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN18+c.-2930A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44925038">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,30:77:99:791,0,1272:127	0/1:63,48:111:99:1356,0,1984:127	0/1:39,47:86:99:1220,0,1230:127
11	44925359	.	C	CT	24321.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=277;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11456363;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11456363" target="_blank">rs11456363</a>;ExAC.Info.AC=8404;ExAC.Info.AN=18758;ExAC.Info.AF=0.448;ExAC.Info.AC_Het=3185;ExAC.Info.AC_Hom=1852;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TP53I11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TSPAN18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000340160;SAVANT_GENE=TSPAN18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSPAN18" target="_blank">TSPAN18</a>;SAVANT_INFO=+/168.0kb/9/4.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-2608dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TSPAN18+c.-2608dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44925359">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:3180,259,0:127	1|1:0,98:98:99:3649,295,0:127	1|1:0,93:93:99:3437,280,0:127
11	44959083	.	C	G	558.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=113;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12792390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12792390" target="_blank">rs12792390</a>;ExAC.Info.AC=31324;ExAC.Info.AN=126694;ExAC.Info.AF=0.247;ExAC.Info.AC_Het=21261;ExAC.Info.AC_Hom=4603;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.188+23G>C;snpeff.Amino_Acid_length=189;snpeff.Gene_Name=TP53I11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308212;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533940;SAVANT_GENE=TP53I11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;SAVANT_INFO=-/17.8kb/10/3.7kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.188+23G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP53I11+c.188+23G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44959083">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1191:110	0|1:24,11:35:99:298,0,713:110	0|0:41,0:41:99:0,123,1355:110
11	44959924	.	G	A	9229.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs2306666;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306666" target="_blank">rs2306666</a>;ExAC.Info.AC=63465;ExAC.Info.AN=124652;ExAC.Info.AF=0.509;ExAC.Info.AC_Het=18234;ExAC.Info.AC_Hom=10886;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-31-7C>T;snpeff.Amino_Acid_length=189;snpeff.Gene_Name=TP53I11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308212;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1C>T;snpeff.Amino_Acid_length=189;snpeff.Gene_Name=TP53I11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308212;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000533940;SAVANT_GENE=TP53I11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TP53I11" target="_blank">TP53I11</a>;SAVANT_INFO=-/17.8kb/10/3.7kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-38C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TP53I11+c.-38C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:44959924">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,30:30:90:1067,90,0:89	1|0:24,25:49:99:850,0,810:89	1|1:0,35:35:99:1341,105,0:89
11	45230443	.	T	C	10580.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs12226640;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12226640" target="_blank">rs12226640</a>;ExAC.Info.AC=6260;ExAC.Info.AN=18104;ExAC.Info.AF=0.346;ExAC.Info.AC_Het=2970;ExAC.Info.AC_Hom=1052;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.656+4114T>C;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=PRDM11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM11" target="_blank">PRDM11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263765;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263765;SAVANT_GENE=PRDM11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM11" target="_blank">PRDM11</a>;SAVANT_INFO=+/131.3kb/8/2.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.656+4114T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM11+c.656+4114T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45230443">View</a>	GT:AD:DP:GQ:PL:TP	0|1:33,40:73:99:1134,0,1043:127	1|1:1,93:94:99:3142,248,0:127	0|0:103,0:103:99:0,309,3521:127
11	45230862	.	C	A	4380.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=126;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3781705;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3781705" target="_blank">rs3781705</a>;ExAC.Info.AC=2433;ExAC.Info.AN=16718;ExAC.Info.AF=0.146;ExAC.Info.AC_Het=271;ExAC.Info.AC_Hom=72;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.656+4533C>A;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=PRDM11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM11" target="_blank">PRDM11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263765;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263765;SAVANT_GENE=PRDM11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM11" target="_blank">PRDM11</a>;SAVANT_INFO=+/131.3kb/8/2.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.656+4533C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM11+c.656+4533C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45230862">View</a>	GT:AD:DP:GQ:PL:TP	0|1:12,28:40:99:620,0,331:116	1|1:0,47:47:99:1458,140,0:116	0|0:39,0:39:99:0,117,1373:116
11	45234877	.	T	C	28481.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11038356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11038356" target="_blank">rs11038356</a>;ExAC.Info.AC=17818;ExAC.Info.AN=20374;ExAC.Info.AF=0.875;ExAC.Info.AC_Het=1316;ExAC.Info.AC_Hom=6391;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.657-6244T>C;snpeff.Amino_Acid_length=511;snpeff.Gene_Name=PRDM11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM11" target="_blank">PRDM11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263765;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263765;SAVANT_GENE=PRDM11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDM11" target="_blank">PRDM11</a>;SAVANT_INFO=+/131.3kb/8/2.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.657-6244T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRDM11+c.657-6244T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45234877">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:3771,336,0:127	1|1:0,136:136:99:4626,409,0:127	1|1:0,90:90:99:3234,271,0:127
11	45672261	.	A	G	11809.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=306;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3802762;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802762" target="_blank">rs3802762</a>;ExAC.Info.AC=101380;ExAC.Info.AN=126704;ExAC.Info.AF=0.800;ExAC.Info.AC_Het=18279;ExAC.Info.AC_Hom=41525;snpeff.Effect=sequence_feature[nucleotide_phosphate-binding_region:PAPS];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=CHST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST1" target="_blank">CHST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308064;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213A>G;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=CHST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST1" target="_blank">CHST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308064;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agT/agC;snpeff.Amino_Acid_Change=p.Ser71Ser/c.213T>C;snpeff.Amino_Acid_length=411;snpeff.Gene_Name=CHST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST1" target="_blank">CHST1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308064;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308064;SAVANT_GENE=CHST1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CHST1" target="_blank">CHST1</a>;SAVANT_INFO=-/16.7kb/4/2.7kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.213T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CHST1+c.213T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45672261">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,38:75:99:1019,0,1030:127	0/1:68,62:130:99:1860,0,1969:127	0/1:42,59:101:99:1690,0,1127:127
11	45793218	.	G	C	2326.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2666891;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2666891" target="_blank">rs2666891</a>;ExAC.Info.AC=6752;ExAC.Info.AN=18640;ExAC.Info.AF=0.362;ExAC.Info.AC_Het=3076;ExAC.Info.AC_Hom=1279;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGg/tCg;snpeff.Amino_Acid_Change=p.Trp28Ser/c.83G>C;snpeff.Amino_Acid_length=120;snpeff.Gene_Name=CTD-2210P24.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-2210P244" target="_blank">CTD-2210P244</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378779;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378779;SAVANT_GENE=CTD-2210P24.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-2210P244" target="_blank">CTD-2210P244</a>;SAVANT_INFO=+/0.9kb/2/0.6kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.83G>C_p.Trp28Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTD-2210P244+c.83G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45793218">View</a>	GT:AD:DP:GQ:PL:TP	0|0:100,0:100:99:0,301,3673:127	0|0:127,0:127:99:0,382,4503:127	0|1:76,42:118:99:1182,0,2343:127
11	45827350	.	A	G	872.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_IIc|_266265_(3);dbSNP139.ID=rs3808976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3808976" target="_blank">rs3808976</a>;ExAC.Info.AC=26691;ExAC.Info.AN=126662;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=19869;ExAC.Info.AC_Hom=3218;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000081951;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3;snpeff.Amino_Acid_Change=c.-3A>G;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=SLC35C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35C1" target="_blank">SLC35C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314134;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=5_prime_UTR_premature_start_codon_gain_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=SLC35C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35C1" target="_blank">SLC35C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314134;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314134;SAVANT_GENE=SLC35C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35C1" target="_blank">SLC35C1</a>;SAVANT_INFO=+/8.6kb/2/4.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-3A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35C1+c.-3A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45827350">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081951" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:30,0:30:90:0,90,980:89	0|0:55,1:56:99:0,126,1727:89	0|1:18,14:32:99:455,0,494:89
11	45832509	.	A	G	2886.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_IIc|_266265_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7130656;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7130656" target="_blank">rs7130656</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=11996;ExAC.Info.AN=126696;ExAC.Info.AF=0.095;ExAC.Info.AC_Het=10433;ExAC.Info.AC_Hom=759;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000081953;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.718A>G;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=SLC35C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35C1" target="_blank">SLC35C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314134;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile240Val/c.718A>G;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=SLC35C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35C1" target="_blank">SLC35C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314134;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314134;SAVANT_GENE=SLC35C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35C1" target="_blank">SLC35C1</a>;SAVANT_INFO=+/8.6kb/2/4.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.718A>G_p.Ile240Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35C1+c.718A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45832509">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000081953" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|0:121,0:121:99:0,363,3918:127	0|0:118,0:118:99:0,354,4063:127	0|1:51,54:105:99:1462,0,1524:127
11	45834198	.	T	C	24575.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_IIc|_266265_(3);dbSNP139.ID=rs7943306;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7943306" target="_blank">rs7943306</a>;ExAC.Info.AC=10514;ExAC.Info.AN=14060;ExAC.Info.AF=0.748;ExAC.Info.AC_Het=1875;ExAC.Info.AC_Hom=3584;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1312;snpeff.Amino_Acid_Change=c.*1312T>C;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=SLC35C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35C1" target="_blank">SLC35C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314134;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314134;SAVANT_GENE=SLC35C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35C1" target="_blank">SLC35C1</a>;SAVANT_INFO=+/8.6kb/2/4.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1312T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35C1+c.*1312T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45834198">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,75:75:99:3057,226,0:127	1|1:0,100:100:99:4003,301,0:127	1|1:0,73:73:99:2649,219,0:127
11	45834201	.	C	T	6824.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=239;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;OMIM_phenotypes.name=Congenital_disorder_of_glycosylation|_type_IIc|_266265_(3);dbSNP139.ID=rs55758172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55758172" target="_blank">rs55758172</a>;ExAC.Info.AC=2359;ExAC.Info.AN=15446;ExAC.Info.AF=0.153;ExAC.Info.AC_Het=1662;ExAC.Info.AC_Hom=169;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1315;snpeff.Amino_Acid_Change=c.*1315C>T;snpeff.Amino_Acid_length=364;snpeff.Gene_Name=SLC35C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35C1" target="_blank">SLC35C1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314134;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314134;SAVANT_GENE=SLC35C1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC35C1" target="_blank">SLC35C1</a>;SAVANT_INFO=+/8.6kb/2/4.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1315C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC35C1+c.*1315C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45834201">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,44:72:99:1276,0,720:127	1|0:45,51:96:99:1446,0,1207:127	0|0:71,0:71:99:0,213,2362:127
11	45868850	.	C	CG	12409.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs11394694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11394694" target="_blank">rs11394694</a>;ExAC.Info.AC=69710;ExAC.Info.AN=108442;ExAC.Info.AF=0.643;ExAC.Info.AC_Het=7335;ExAC.Info.AC_Hom=10084;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=CRY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRY2" target="_blank">CRY2</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRY2" target="_blank">CRY2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRY2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45868850">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1833,170,0:127	1|1:1,55:56:99:1853,163,0:127	1|0:22,26:48:99:758,0,610:127
11	45877529	.	A	G	26858.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=338;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2292913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2292913" target="_blank">rs2292913</a>;ExAC.Info.AC=111265;ExAC.Info.AN=126704;ExAC.Info.AF=0.878;ExAC.Info.AC_Het=11537;ExAC.Info.AC_Hom=49854;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.279-4A>G;snpeff.Amino_Acid_length=614;snpeff.Gene_Name=CRY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRY2" target="_blank">CRY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000443527;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.279A>G;snpeff.Amino_Acid_length=614;snpeff.Gene_Name=CRY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRY2" target="_blank">CRY2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000443527;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000443527;SAVANT_GENE=CRY2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRY2" target="_blank">CRY2</a>;SAVANT_INFO=+/35.8kb/12/4.2kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.279-4A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CRY2+c.279-4A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45877529">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:3880,351,0:127	1|1:0,116:116:99:3825,348,0:127	1|1:0,105:105:99:3334,315,0:127
11	45924953	.	C	T	5895.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=231;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72902473;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72902473" target="_blank">rs72902473</a>;ExAC.Info.AC=33;ExAC.Info.AN=126656;ExAC.Info.AF=2.605e-04;ExAC.Info.AC_Het=33;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1455C>T;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1455C>T;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1455C>T;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1455C>T;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1455C>T;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1455C>T;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1455C>T;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn485Asn/c.1455C>T;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241014;SAVANT_GENE=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;SAVANT_INFO=+/20.8kb/12/3.0kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.1455C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAPK8IP1+c.1455C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45924953">View</a>	GT:AD:DP:GQ:PL:TP	1|0:45,34:79:99:967,0,1525:127	0|0:86,1:87:99:0,230,3226:127	1|0:26,39:65:99:1249,0,794:127
11	45926445	.	T	C	35075.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=451;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2271847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2271847" target="_blank">rs2271847</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1893+60T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:PID];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_VRK2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1894T>C;snpeff.Amino_Acid_length=711;snpeff.Gene_Name=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241014;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241014;SAVANT_GENE=MAPK8IP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPK8IP1" target="_blank">MAPK8IP1</a>;SAVANT_INFO=+/20.8kb/12/3.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1893+60T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MAPK8IP1+c.1893+60T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45926445">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,164:164:99:5455,492,0:127	1|1:0,168:168:99:5776,505,0:127	1|1:0,119:119:99:3956,357,0:127
11	45931502	.	G	A	6062.76	PASS	InGeneList;InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_8A|_(Zellweger)|_614876_(3)|_Peroxisome_biogenesis_disorder_8B|_614877_(3);dbSNP139.ID=rs10838529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10838529" target="_blank">rs10838529</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=138;snpeff.Amino_Acid_Change=c.*138C>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX16" target="_blank">PEX16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241041;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241041;SAVANT_GENE=PEX16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX16" target="_blank">PEX16</a>;SAVANT_INFO=-/8.2kb/11/1.5kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*138C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX16+c.*138C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45931502">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:822,75,0:74	1|1:0,40:40:99:1334,120,0:74	1|0:11,13:24:99:413,0,310:74
11	45935384	.	A	G	38649.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_8A|_(Zellweger)|_614876_(3)|_Peroxisome_biogenesis_disorder_8B|_614877_(3);dbSNP139.ID=rs1132349;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1132349" target="_blank">rs1132349</a>;ExAC.Info.AC=103344;ExAC.Info.AN=126620;ExAC.Info.AF=0.816;ExAC.Info.AC_Het=14884;ExAC.Info.AC_Hom=43872;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr291Tyr/c.873T>C;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX16" target="_blank">PEX16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241041;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241041;SAVANT_GENE=PEX16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX16" target="_blank">PEX16</a>;SAVANT_INFO=-/8.2kb/11/1.5kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.873T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX16+c.873T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45935384">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:4158,349,0:127	1|1:0,182:182:99:6583,547,0:127	1|1:0,120:120:99:4247,361,0:127
11	45936035	.	G	A	44330.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=550;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_8A|_(Zellweger)|_614876_(3)|_Peroxisome_biogenesis_disorder_8B|_614877_(3);dbSNP139.ID=rs3802758;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3802758" target="_blank">rs3802758</a>;ExAC.Info.AC=102544;ExAC.Info.AN=126590;ExAC.Info.AF=0.810;ExAC.Info.AC_Het=15390;ExAC.Info.AC_Hom=42874;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.542-16C>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX16" target="_blank">PEX16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241041;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241041;SAVANT_GENE=PEX16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX16" target="_blank">PEX16</a>;SAVANT_INFO=-/8.2kb/11/1.5kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.542-16C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX16+c.542-16C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45936035">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,196:197:99:6560,560,0:127	1|1:0,200:200:99:7101,601,0:127	1|1:0,153:153:99:5338,459,0:127
11	45937267	.	C	T	40276.93	PASS	InGeneList;InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=485;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Peroxisome_biogenesis_disorder_8A|_(Zellweger)|_614876_(3)|_Peroxisome_biogenesis_disorder_8B|_614877_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10742772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10742772" target="_blank">rs10742772</a>;ExAC.Info.AC=126700;ExAC.Info.AN=126700;ExAC.Info.AF=1.00;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=63322;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346C>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX16" target="_blank">PEX16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241041;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.346C>T;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX16" target="_blank">PEX16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241041;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val116Ile/c.346G>A;snpeff.Amino_Acid_length=346;snpeff.Gene_Name=PEX16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX16" target="_blank">PEX16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000241041;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000241041;SAVANT_GENE=PEX16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX16" target="_blank">PEX16</a>;SAVANT_INFO=-/8.2kb/11/1.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.346G>A_p.Val116Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PEX16+c.346G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45937267">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:5010,472,0:127	1|1:0,185:185:99:6545,556,0:127	1|1:0,143:143:99:5119,430,0:127
11	45949201	.	C	T	17350.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=261;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs884668;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=884668" target="_blank">rs884668</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1604+57C>T;snpeff.Amino_Acid_length=721;snpeff.Gene_Name=GYLTL1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GYLTL1B" target="_blank">GYLTL1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531526;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531526;SAVANT_GENE=GYLTL1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GYLTL1B" target="_blank">GYLTL1B</a>;SAVANT_INFO=+/7.5kb/14/2.5kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1604+57C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GYLTL1B+c.1604+57C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45949201">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2653,234,0:127	1|1:0,99:99:99:3463,297,0:127	1|0:43,41:84:99:1185,0,1292:127
11	45949534	.	C	T	21095.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=250;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs939105;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=939105" target="_blank">rs939105</a>;ExAC.Info.AC=95680;ExAC.Info.AN=126650;ExAC.Info.AF=0.755;ExAC.Info.AC_Het=17990;ExAC.Info.AC_Hom=38549;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe556Phe/c.1668C>T;snpeff.Amino_Acid_length=721;snpeff.Gene_Name=GYLTL1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GYLTL1B" target="_blank">GYLTL1B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531526;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000531526;SAVANT_GENE=GYLTL1B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GYLTL1B" target="_blank">GYLTL1B</a>;SAVANT_INFO=+/7.5kb/14/2.5kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1668C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GYLTL1B+c.1668C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:45949534">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2454,222,0:127	1|1:0,96:96:99:3432,289,0:127	1|1:0,80:80:99:2834,240,0:127
11	46105688	.	G	A	25704.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2932515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2932515" target="_blank">rs2932515</a>;ExAC.Info.AC=116688;ExAC.Info.AN=126696;ExAC.Info.AF=0.921;ExAC.Info.AC_Het=8952;ExAC.Info.AC_Hom=53775;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.54+29C>T;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=PHF21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHF21A" target="_blank">PHF21A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.55G>A;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=PHF21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHF21A" target="_blank">PHF21A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257821;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.55G>A;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=PHF21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHF21A" target="_blank">PHF21A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257821;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.55G>A;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=PHF21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHF21A" target="_blank">PHF21A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257821;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Gln-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.55G>A;snpeff.Amino_Acid_length=681;snpeff.Gene_Name=PHF21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHF21A" target="_blank">PHF21A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257821;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418153;SAVANT_GENE=PHF21A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PHF21A" target="_blank">PHF21A</a>;SAVANT_INFO=-/187.5kb/18/2.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.54+29C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PHF21A+c.54+29C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46105688">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:3370,294,0:127	1|1:0,136:136:99:4627,409,0:127	1|1:0,86:86:99:2993,258,0:127
11	46342081	.	TG	T	5320.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=63;MQ=70.17;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs67946579;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67946579" target="_blank">rs67946579</a>;ExAC.Info.AC=120018;ExAC.Info.AN=120034;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=26739;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1524+2delG;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288400;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525delG;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288400;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525delG;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288400;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525delG;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288400;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_donor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.1525delG;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288400;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;LOF=(CREB3L1|ENSG00000157613|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000529193;SAVANT_GENE=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;SAVANT_INFO=+/43.8kb/12/2.7kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1523+6delG;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CREB3L1+c.1523+6delG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46342081">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,22:22:66:755,66,0:56	1|1:0,22:22:66:755,66,0:56	1|1:0,19:19:57:652,57,0:56
11	46342259	.	A	AG	19036.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=218;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs79068197;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79068197" target="_blank">rs79068197</a>;ExAC.Info.AC=124925;ExAC.Info.AN=124934;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=2;ExAC.Info.AC_Hom=60489;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1525-1_1525insG;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288400;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525_1526insG;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288400;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525_1526insG;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288400;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1525_1526insG;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288400;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.1525_1526insG;snpeff.Amino_Acid_length=519;snpeff.Gene_Name=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000288400;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;LOF=(CREB3L1|ENSG00000157613|1|1.00);TYPE=Insertion;SAVANT_ENST=ENST00000529193;SAVANT_GENE=CREB3L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CREB3L1" target="_blank">CREB3L1</a>;SAVANT_INFO=+/43.8kb/12/2.7kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1525dupG;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CREB3L1+c.1525dupG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46342259">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,77:77:99:2740,232,0:127	1|1:0,87:87:99:3118,265,0:127	1|1:0,54:54:99:1923,162,0:127
11	46369302	.	C	G	56.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=53;MQ=68.10;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;ExAC.Info.AC=1381;ExAC.Info.AN=29968;ExAC.Info.AF=0.046;ExAC.Info.AC_Het=1249;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=DGKZ+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46369302">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,553:40	0|1:12,2:14:47:47,0,417:40	0|0:25,0:25:75:0,75,857:40
11	46387868	.	A	G	656.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1317826;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1317826" target="_blank">rs1317826</a>;ExAC.Info.AC=36089;ExAC.Info.AN=120300;ExAC.Info.AF=0.300;ExAC.Info.AC_Het=18882;ExAC.Info.AC_Hom=5724;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln21Arg/c.62A>G;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454345;SAVANT_GENE=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;SAVANT_INFO=+/19.0kb/32/4.1kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.62A>G_p.Gln21Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DGKZ+c.62A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46387868">View</a>	GT:AD:DP:GQ:PL:TP	0|0:43,0:43:99:0,129,1415:127	0|0:48,0:48:99:0,144,1498:127	0|1:15,12:27:99:347,0,432:127
11	46393757	.	C	T	1270.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs3740976;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740976" target="_blank">rs3740976</a>;ExAC.Info.AC=11727;ExAC.Info.AN=123710;ExAC.Info.AF=0.095;ExAC.Info.AC_Het=5225;ExAC.Info.AC_Hom=442;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1491+37C>T;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DAGKc];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1492C>T;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DAGKc];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1492C>T;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DAGKc];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1492C>T;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DAGKc];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1492C>T;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DAGKc];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1492C>T;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_RASGRP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1492C>T;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_RASGRP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1492C>T;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_RASGRP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1492C>T;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_RASGRP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1492C>T;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Mediates_interaction_with_RASGRP1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1492C>T;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454345;SAVANT_GENE=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;SAVANT_INFO=+/19.0kb/32/4.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1491+37C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DGKZ+c.1491+37C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46393757">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2033:127	0|0:89,0:89:99:0,267,2849:127	0|1:32,29:61:99:654,0,943:127
11	46396020	.	A	C	538.4	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ExAC.Info.AC=7305;ExAC.Info.AN=126674;ExAC.Info.AF=0.058;ExAC.Info.AC_Het=6467;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2025+16A>C;snpeff.Amino_Acid_length=1117;snpeff.Gene_Name=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454345;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000454345;SAVANT_GENE=DGKZ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGKZ" target="_blank">DGKZ</a>;SAVANT_INFO=+/19.0kb/32/4.1kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2025+16A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DGKZ+c.2025+16A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46396020">View</a>	GT:AD:DP:GQ:PL:TP	0/1:47,16:63:17:17,0,1362:16	0/1:53,23:76:74:74,0,1555:16	0/1:53,18:71:28:28,0,1598:16
11	46403649	.	G	A	1996.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs20542;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=20542" target="_blank">rs20542</a>;ExAC.Info.AC=13796;ExAC.Info.AN=126014;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=11310;ExAC.Info.AC_Hom=948;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu14Leu/c.42G>A;snpeff.Amino_Acid_length=143;snpeff.Gene_Name=MDK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDK" target="_blank">MDK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359803;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000405308;SAVANT_GENE=MDK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDK" target="_blank">MDK</a>;SAVANT_INFO=+/3.0kb/5/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.42G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MDK+c.42G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46403649">View</a>	GT:AD:DP:GQ:PL:TP	0|0:95,0:95:99:0,285,3234:127	0|0:117,0:117:99:0,352,4372:127	0|1:50,39:89:99:1017,0,1610:127
11	46404340	.	G	GCCC	1420.29	VQSRTrancheINDEL99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=86;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.406+43_406+44insCCC;snpeff.Amino_Acid_length=143;snpeff.Gene_Name=MDK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDK" target="_blank">MDK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359803;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000405308;SAVANT_GENE=MDK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDK" target="_blank">MDK</a>;SAVANT_INFO=+/3.0kb/5/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.406+55_406+57dupCCC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MDK+c.406+55_406+57dupCCC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46404340">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,13:30:99:152,0,591:127	0/1:16,13:29:99:198,0,534:127	0/1:18,9:27:99:166,0,529:127
11	46404356	.	G	C	764.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=89;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs199898462;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199898462" target="_blank">rs199898462</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.406+58G>C;snpeff.Amino_Acid_length=143;snpeff.Gene_Name=MDK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDK" target="_blank">MDK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000359803;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000405308;SAVANT_GENE=MDK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MDK" target="_blank">MDK</a>;SAVANT_INFO=+/3.0kb/5/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.406+58G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MDK+c.406+58G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46404356">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,0:28:28:28,0,969:28	0/1:29,1:30:99:133,0,997:28	0/1:30,1:31:99:110,0,1003:28
11	46569434	.	CA	C	2076.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=247;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs58268270;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=58268270" target="_blank">rs58268270</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.136-10delT;snpeff.Amino_Acid_length=1298;snpeff.Gene_Name=AMBRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMBRA1" target="_blank">AMBRA1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000458649;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000314845;SAVANT_GENE=AMBRA1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AMBRA1" target="_blank">AMBRA1</a>;SAVANT_INFO=-/195.0kb/19/5.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.136-10delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AMBRA1+c.136-10delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46569434">View</a>	GT:AD:DP:GQ:PL:TP	0/1:40,23:63:99:280,0,731:125	0/1:65,21:86:99:125,0,1123:125	0/1:67,31:98:99:336,0,1248:125
11	46685495	.	CT	C	28.48	LowQual	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=27;MQ=70.17;MQ0=0;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.790-51delT;snpeff.Amino_Acid_length=550;snpeff.Gene_Name=ATG13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATG13" target="_blank">ATG13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528494;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000528494;SAVANT_GENE=ATG13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATG13" target="_blank">ATG13</a>;SAVANT_INFO=+/55.1kb/18/2.4kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.790-34delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATG13+c.790-34delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46685495">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,5:15:40:40,0,137:4	0/1:8,2:10:11:11,0,130:4	0/1:1,1:2:4:4,0,16:4
11	46694313	.	GTC	G	11747.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=118;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs67065551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67065551" target="_blank">rs67065551</a>;ExAC.Info.AC=117754;ExAC.Info.AN=117788;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=21;ExAC.Info.AC_Hom=56561;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=ATG13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATG13" target="_blank">ATG13</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATG13" target="_blank">ATG13</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=ATG13+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46694313">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1851,127,0:80	1|1:0,49:49:99:2182,148,0:80	1|1:0,27:27:81:1208,81,0:80
11	46699494	.	GA	G	144.2	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs34845803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34845803" target="_blank">rs34845803</a>;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1092;snpeff.Amino_Acid_Change=c.*1092delT;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=ARHGAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP1" target="_blank">ARHGAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311956;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000311956;SAVANT_GENE=ARHGAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP1" target="_blank">ARHGAP1</a>;SAVANT_INFO=-/23.5kb/13/3.4kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*1092delT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP1+c.*1092delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46699494">View</a>	GT:AD:DP:GQ:PL:TP	0|1:28,8:36:54:54,0,629:53	1|0:29,8:37:69:69,0,615:53	0|0:25,0:25:75:0,75,667:53
11	46702920	.	T	C	22560.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4268467;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4268467" target="_blank">rs4268467</a>;ExAC.Info.AC=126673;ExAC.Info.AN=126704;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=31;ExAC.Info.AC_Hom=63319;snpeff.Effect=sequence_feature[domain:CRAL-TRIO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=ARHGAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP1" target="_blank">ARHGAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311956;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CRAL-TRIO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=ARHGAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP1" target="_blank">ARHGAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311956;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CRAL-TRIO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=ARHGAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP1" target="_blank">ARHGAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311956;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CRAL-TRIO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=ARHGAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP1" target="_blank">ARHGAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311956;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CRAL-TRIO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=ARHGAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP1" target="_blank">ARHGAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311956;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:CRAL-TRIO];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459T>C;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=ARHGAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP1" target="_blank">ARHGAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys153Lys/c.459A>G;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=ARHGAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP1" target="_blank">ARHGAP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311956;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311956;SAVANT_GENE=ARHGAP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARHGAP1" target="_blank">ARHGAP1</a>;SAVANT_INFO=-/23.5kb/13/3.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.459A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARHGAP1+c.459A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46702920">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:3422,318,0:127	1|1:0,93:93:99:3065,279,0:127	1|1:0,86:86:99:2854,258,0:127
11	46722731	.	T	C	13218.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4752928;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4752928" target="_blank">rs4752928</a>;ExAC.Info.AC=126471;ExAC.Info.AN=126506;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=32;ExAC.Info.AC_Hom=61592;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.52+82T>C;snpeff.Amino_Acid_length=720;snpeff.Gene_Name=ZNF408;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF408" target="_blank">ZNF408</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311764;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311764;SAVANT_GENE=ZNF408;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZNF408" target="_blank">ZNF408</a>;SAVANT_INFO=+/5.1kb/5/2.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.52+82T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZNF408+c.52+82T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46722731">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1554,135,0:127	1|1:0,54:54:99:1805,162,0:127	1|1:0,56:56:99:1990,168,0:127
11	46744925	.	G	C	48049.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=547;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Hypoprothrombinemia|_613679_(3)|_Dysprothrombinemia|_613679_(3)|_Thrombophilia_due_to_thrombin_defect|_188050_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_2}|_614390_(3);dbSNP139.ID=rs2070852;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2070852" target="_blank">rs2070852</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=76239;ExAC.Info.AN=126672;ExAC.Info.AF=0.602;ExAC.Info.AC_Het=26764;ExAC.Info.AC_Hom=24717;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.423-7G>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kringle_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.423G>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Kringle_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.423G>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.423G>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.423G>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.423G>C;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311907;SAVANT_GENE=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;SAVANT_INFO=+/20.3kb/14/2.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.423-7G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F2+c.423-7G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46744925">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,159:159:99:5585,478,0:127	1|1:0,203:203:99:7249,610,0:127	1|1:0,185:185:99:6680,556,0:127
11	46760756	.	G	A	11811.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=177;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Hypoprothrombinemia|_613679_(3)|_Dysprothrombinemia|_613679_(3)|_Thrombophilia_due_to_thrombin_defect|_188050_(3)|_{Stroke|_ischemic|_susceptibility_to}|_601367_(3)|_{Pregnancy_loss|_recurrent|_susceptibility_to|_2}|_614390_(3);dbSNP139.ID=rs3136516;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3136516" target="_blank">rs3136516</a>;Clinvar.ClinicalSignificance=Uncertain_significance;Clinvar.RCVaccession=RCV000133511;Clinvar.PhenotypeIDs=GeneReviews:NBK1148|MedGen:C0398623|OMIM:188050|SNOMED_CT:234467004;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1726-59G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Peptidase_S1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1726G>A;snpeff.Amino_Acid_length=622;snpeff.Gene_Name=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311907;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311907;SAVANT_GENE=F2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=F2" target="_blank">F2</a>;SAVANT_INFO=+/20.3kb/14/2.0kb;SAVANT_LOC=In13/14;SAVANT_HGVS=c.1726-59G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=F2+c.1726-59G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46760756">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000133511" target="_blank">Uncertain_significance</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,47:47:99:1630,141,0:127	1|1:0,69:69:99:2421,207,0:127	1|0:30,31:61:99:827,0,919:127
11	46799978	.	T	C	4194.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72895820;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72895820" target="_blank">rs72895820</a>;ExAC.Info.AC=785;ExAC.Info.AN=126686;ExAC.Info.AF=6.196e-03;ExAC.Info.AC_Het=769;ExAC.Info.AC_Hom=8;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2573+32A>G;snpeff.Amino_Acid_length=2039;snpeff.Gene_Name=CKAP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CKAP5" target="_blank">CKAP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000415402;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2574T>C;snpeff.Amino_Acid_length=2039;snpeff.Gene_Name=CKAP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CKAP5" target="_blank">CKAP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000415402;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:HEAT_5];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2574T>C;snpeff.Amino_Acid_length=2039;snpeff.Gene_Name=CKAP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CKAP5" target="_blank">CKAP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000415402;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529230;SAVANT_GENE=CKAP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CKAP5" target="_blank">CKAP5</a>;SAVANT_INFO=-/103.2kb/44/7.1kb;SAVANT_LOC=In21/22;SAVANT_HGVS=c.2573+32A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CKAP5+c.2573+32A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46799978">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,406,4449:127	0|0:169,0:169:99:0,508,5941:127	0|1:63,66:129:99:2116,0,1924:127
11	46806071	.	G	A	15956.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=665;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs72895824;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72895824" target="_blank">rs72895824</a>;ExAC.Info.AC=744;ExAC.Info.AN=126702;ExAC.Info.AF=5.872e-03;ExAC.Info.AC_Het=745;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala707Ala/c.2121C>T;snpeff.Amino_Acid_length=2039;snpeff.Gene_Name=CKAP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CKAP5" target="_blank">CKAP5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000415402;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000529230;SAVANT_GENE=CKAP5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CKAP5" target="_blank">CKAP5</a>;SAVANT_INFO=-/103.2kb/44/7.1kb;SAVANT_LOC=Ex17;SAVANT_HGVS=c.2121C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CKAP5+c.2121C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46806071">View</a>	GT:AD:DP:GQ:PL:TP	0|1:99,95:194:99:2544,0,2773:127	1|0:115,134:249:99:3889,0,3058:127	0|0:222,0:222:99:0,667,7634:127
11	46889713	.	T	C	38033.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=456;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbSNP139.ID=rs2306026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306026" target="_blank">rs2306026</a>;ExAC.Info.AC=86576;ExAC.Info.AN=126698;ExAC.Info.AF=0.683;ExAC.Info.AC_Het=24630;ExAC.Info.AC_Hom=30855;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.4952-48A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.182-4912T>C;snpeff.Gene_Name=LRP4-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000502049;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4952T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378623;SAVANT_GENE=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;SAVANT_INFO=-/61.8kb/38/8.1kb;SAVANT_LOC=In33/34;SAVANT_HGVS=c.4952-48A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP4+c.4952-48A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46889713">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:4843,414,0:127	1|1:0,180:180:99:6421,540,0:127	1|1:0,138:138:99:5017,415,0:127
11	46890165	.	C	T	44444.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=508;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3816614;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3816614" target="_blank">rs3816614</a>;ExAC.Info.AC=86565;ExAC.Info.AN=126704;ExAC.Info.AF=0.683;ExAC.Info.AC_Het=24658;ExAC.Info.AC_Hom=30937;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.182-4460C>T;snpeff.Gene_Name=LRP4-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000502049;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" 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target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" 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target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4937C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg1646Gln/c.4937G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378623;SAVANT_GENE=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;SAVANT_INFO=-/61.8kb/38/8.1kb;SAVANT_LOC=Ex33;SAVANT_HGVS=c.4937G>A_p.Arg1646Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP4+c.4937G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46890165">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,156:156:99:5898,469,0:127	1|1:0,181:181:99:6774,544,0:127	1|1:0,171:171:99:6316,514,0:127
11	46893108	.	T	C	15335.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=194;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2306029;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306029" target="_blank">rs2306029</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Richter_syndrome|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=604270;hgmd_2014.2.PubMed=21121903;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21121903" target="_blank">21121903</a>;ExAC.Info.AC=60568;ExAC.Info.AN=126668;ExAC.Info.AF=0.478;ExAC.Info.AC_Het=28681;ExAC.Info.AC_Hom=15083;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.182-1517T>C;snpeff.Gene_Name=LRP4-AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000502049;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_19];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4660T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" 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target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4660T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4660T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4660T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser1554Gly/c.4660A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4-AS1" target="_blank">LRP4-AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378623;SAVANT_GENE=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;SAVANT_INFO=-/61.8kb/38/8.1kb;SAVANT_LOC=Ex31;SAVANT_HGVS=c.4660A>G_p.Ser1554Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP4+c.4660A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46893108">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,57:57:99:1796,171,0:127	1|1:0,87:87:99:2963,261,0:127	1|0:25,25:50:99:636,0,638:127
11	46897253	.	G	C	30942.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=374;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbSNP139.ID=rs2306032;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306032" target="_blank">rs2306032</a>;ExAC.Info.AC=73950;ExAC.Info.AN=126692;ExAC.Info.AF=0.584;ExAC.Info.AC_Het=27268;ExAC.Info.AC_Hom=23124;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3700-21C>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3700G>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_14];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3700G>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3700G>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3700G>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3700G>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3700G>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46897253">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:4718,415,0:127	1|1:0,136:136:99:4628,407,0:127	1|1:0,100:100:99:3589,300,0:127
11	46897995	.	G	T	34757.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=445;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbSNP139.ID=rs964551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=964551" target="_blank">rs964551</a>;ExAC.Info.AC=86589;ExAC.Info.AN=126704;ExAC.Info.AF=0.683;ExAC.Info.AC_Het=24648;ExAC.Info.AC_Hom=30960;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3536+22C>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_13];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3537G>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378623;SAVANT_GENE=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;SAVANT_INFO=-/61.8kb/38/8.1kb;SAVANT_LOC=In25/26;SAVANT_HGVS=c.3536+22C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP4+c.3536+22C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46897995">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,160:160:99:5241,480,0:127	1|1:0,175:175:99:6098,526,0:127	1|1:0,110:110:99:3835,331,0:127
11	46898771	.	T	C	58076.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=761;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6485702;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6485702" target="_blank">rs6485702</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Hip_bone_mineral_density|_association_with;hgmd_2014.2.OMIM_ID=604270;hgmd_2014.2.PubMed=19079262;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19079262" target="_blank">19079262</a>;ExAC.Info.AC=74057;ExAC.Info.AN=126704;ExAC.Info.AF=0.584;ExAC.Info.AC_Het=27346;ExAC.Info.AC_Hom=23353;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3256T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile1086Val/c.3256A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378623;SAVANT_GENE=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;SAVANT_INFO=-/61.8kb/38/8.1kb;SAVANT_LOC=Ex23;SAVANT_HGVS=c.3256A>G_p.Ile1086Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP4+c.3256A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46898771">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,239:239:99:8232,718,0:127	1|1:0,283:283:99:9844,850,0:127	1|1:0,239:239:99:8363,718,0:127
11	46903168	.	C	T	6594.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=321;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbSNP139.ID=rs72897647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72897647" target="_blank">rs72897647</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2814+85G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2815C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378623;SAVANT_GENE=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;SAVANT_INFO=-/61.8kb/38/8.1kb;SAVANT_LOC=In20/21;SAVANT_HGVS=c.2814+85G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP4+c.2814+85G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46903168">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,58:112:99:1566,0,1705:127	0|0:118,0:118:99:0,355,4379:127	1|0:57,34:91:99:958,0,1922:127
11	46907827	.	C	T	35509.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbSNP139.ID=rs2306027;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306027" target="_blank">rs2306027</a>;ExAC.Info.AC=83122;ExAC.Info.AN=126164;ExAC.Info.AF=0.659;ExAC.Info.AC_Het=21296;ExAC.Info.AC_Hom=26061;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2424+49G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_6];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2425C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378623;SAVANT_GENE=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;SAVANT_INFO=-/61.8kb/38/8.1kb;SAVANT_LOC=In17/18;SAVANT_HGVS=c.2424+49G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP4+c.2424+49G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46907827">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,123:123:99:4246,370,0:127	1|1:0,171:171:99:6079,514,0:127	1|1:0,135:135:99:4674,406,0:127
11	46911704	.	C	T	23614.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbSNP139.ID=rs2306036;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2306036" target="_blank">rs2306036</a>;ExAC.Info.AC=96224;ExAC.Info.AN=126702;ExAC.Info.AF=0.759;ExAC.Info.AC_Het=20167;ExAC.Info.AC_Hom=37842;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1916-33G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46911704">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,87:87:99:3006,262,0:127	1|1:0,103:103:99:3807,309,0:127	1|1:0,81:81:99:2929,244,0:127
11	46914583	.	T	C	31155.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=305;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbSNP139.ID=rs10838631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10838631" target="_blank">rs10838631</a>;ExAC.Info.AC=125304;ExAC.Info.AN=126700;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=1368;ExAC.Info.AC_Hom=61813;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1638T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys546Lys/c.1638A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378623;SAVANT_GENE=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;SAVANT_INFO=-/61.8kb/38/8.1kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1638A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP4+c.1638A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46914583">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:4675,322,0:127	1|1:0,109:109:99:4726,331,0:127	1|1:0,90:90:99:4042,277,0:127
11	46914598	.	A	G	28341.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=283;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbSNP139.ID=rs10769215;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769215" target="_blank">rs10769215</a>;ExAC.Info.AC=126561;ExAC.Info.AN=126702;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=137;ExAC.Info.AC_Hom=63063;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=30;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=31;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1623A>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaT/gaC;snpeff.Amino_Acid_Change=p.Asp541Asp/c.1623T>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378623;SAVANT_GENE=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;SAVANT_INFO=-/61.8kb/38/8.1kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.1623T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP4+c.1623T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46914598">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,106:106:99:4631,322,0:127	1|1:0,95:95:99:4221,292,0:127	1|1:0,82:82:99:3627,247,0:127
11	46916179	.	T	G	7875.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72897663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72897663" target="_blank">rs72897663</a>;ExAC.Info.AC=4279;ExAC.Info.AN=126696;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=4029;ExAC.Info.AC_Hom=87;snpeff.Effect=sequence_feature[repeat:LDL-receptor_class_B_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1501T>G;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Cac;snpeff.Amino_Acid_Change=p.Asn501His/c.1501A>C;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378623;SAVANT_GENE=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;SAVANT_INFO=-/61.8kb/38/8.1kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1501A>C_p.Asn501His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP4+c.1501A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46916179">View</a>	GT:AD:DP:GQ:PL:TP	1|0:50,53:103:99:1646,0,1328:127	0|0:124,0:124:99:0,373,4146:127	1|0:49,44:93:99:1357,0,1422:127
11	46917983	.	G	A	9360.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=97;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3)|Cenani-Lenz_syndactyly_syndrome|_212780_(3)|_Sclerosteosis_2|_614305_(3);dbSNP139.ID=rs898604;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=898604" target="_blank">rs898604</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.923-97C>T;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=32;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=33;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" 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target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=26;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=34;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=35;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=36;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923G>A;snpeff.Amino_Acid_length=1905;snpeff.Gene_Name=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378623;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378623;SAVANT_GENE=LRP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP4" target="_blank">LRP4</a>;SAVANT_INFO=-/61.8kb/38/8.1kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.923-97C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRP4+c.923-97C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46917983">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:763,72,0:69	1|1:0,50:50:99:1769,150,0:69	1|1:0,23:23:69:813,69,0:69
11	46969616	.	T	C	20726.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2867207;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2867207" target="_blank">rs2867207</a>;ExAC.Info.AC=13344;ExAC.Info.AN=13402;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=37;ExAC.Info.AC_Hom=5779;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.46+11214T>C;snpeff.Amino_Acid_length=337;snpeff.Gene_Name=C11orf49;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf49" target="_blank">C11orf49</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378615;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378615;SAVANT_GENE=C11orf49;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf49" target="_blank">C11orf49</a>;SAVANT_INFO=+/225.5kb/9/1.7kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.46+11214T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf49+c.46+11214T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:46969616">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,81:81:99:2712,243,0:127	1|1:0,88:88:99:3066,264,0:127	1|1:0,84:84:99:2880,252,0:127
11	47187071	.	GA	G	95.6	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=46;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs377653037;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=377653037" target="_blank">rs377653037</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1546-19delT;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Required_for_interaction_with_coatomer];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1546delA;snpeff.Amino_Acid_length=521;snpeff.Gene_Name=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524782;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000524782;SAVANT_GENE=ARFGAP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARFGAP2" target="_blank">ARFGAP2</a>;SAVANT_INFO=-/12.8kb/16/3.0kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1546-19delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ARFGAP2+c.1546-19delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47187071">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,3:17:10:10,0,263:4	0/1:16,3:19:6:6,0,337:4	0/1:8,2:10:7:7,0,154:4
11	47204175	.	A	T	9175.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=102;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2279438;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2279438" target="_blank">rs2279438</a>;ExAC.Info.AC=88827;ExAC.Info.AN=126622;ExAC.Info.AF=0.702;ExAC.Info.AC_Het=24068;ExAC.Info.AC_Hom=31988;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.54+50T>A;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=PACSIN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PACSIN3" target="_blank">PACSIN3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539589;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000539589;SAVANT_GENE=PACSIN3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PACSIN3" target="_blank">PACSIN3</a>;SAVANT_INFO=-/8.3kb/11/2.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.54+50T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PACSIN3+c.54+50T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47204175">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:990,87,0:101	1|1:0,39:39:99:1301,117,0:101	1|1:0,34:34:99:1183,102,0:101
11	47238522	.	T	C	47272.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=608;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Xeroderma_pigmentosum|_group_E|_DDB-negative_subtype|_278740_(3);dbSNP139.ID=rs326212;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=326212" target="_blank">rs326212</a>;ExAC.Info.AC=126549;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=153;ExAC.Info.AC_Hom=63190;snpeff.Effect=sequence_feature[repeat:WD_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.378T>C;snpeff.Amino_Acid_length=427;snpeff.Gene_Name=DDB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB2" target="_blank">DDB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256996;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr126Thr/c.378T>C;snpeff.Amino_Acid_length=427;snpeff.Gene_Name=DDB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB2" target="_blank">DDB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256996;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256996;SAVANT_GENE=DDB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB2" target="_blank">DDB2</a>;SAVANT_INFO=+/24.3kb/10/1.8kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.378T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDB2+c.378T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47238522">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,197:197:99:6668,592,0:127	1|1:0,229:229:99:7989,688,0:127	1|1:0,182:182:99:6323,547,0:127
11	47251199	.	G	A	9541.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Xeroderma_pigmentosum|_group_E|_DDB-negative_subtype|_278740_(3);dbSNP139.ID=rs830085;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=830085" target="_blank">rs830085</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.457-3166G>A;snpeff.Amino_Acid_length=427;snpeff.Gene_Name=DDB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB2" target="_blank">DDB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256996;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256996;SAVANT_GENE=DDB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB2" target="_blank">DDB2</a>;SAVANT_INFO=+/24.3kb/10/1.8kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.457-3166G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDB2+c.457-3166G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47251199">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,40:40:99:1335,120,0:115	1|1:0,40:40:99:1441,120,0:115	1|1:0,39:39:99:1360,117,0:115
11	47259668	.	T	C	86286.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Xeroderma_pigmentosum|_group_E|_DDB-negative_subtype|_278740_(3);dbSNP139.ID=rs326222;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=326222" target="_blank">rs326222</a>;ExAC.Info.AC=75445;ExAC.Info.AN=126686;ExAC.Info.AF=0.596;ExAC.Info.AC_Het=27010;ExAC.Info.AC_Hom=23130;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1189-21T>C;snpeff.Amino_Acid_length=427;snpeff.Gene_Name=DDB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB2" target="_blank">DDB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256996;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1189T>C;snpeff.Amino_Acid_length=427;snpeff.Gene_Name=DDB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB2" target="_blank">DDB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256996;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1189T>C;snpeff.Amino_Acid_length=427;snpeff.Gene_Name=DDB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB2" target="_blank">DDB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256996;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1189T>C;snpeff.Amino_Acid_length=427;snpeff.Gene_Name=DDB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB2" target="_blank">DDB2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256996;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256996;SAVANT_GENE=DDB2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB2" target="_blank">DDB2</a>;SAVANT_INFO=+/24.3kb/10/1.8kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1189-21T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDB2+c.1189-21T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47259668">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,363:363:99:12706,1090,0:127	1|1:0,425:425:99:14993,1277,0:127	1|1:0,379:379:99:13218,1138,0:127
11	47267408	.	CGT	C	2834.29	PASS	InheritancePattern=notInChild;AC=1;AF=0.250;AN=4;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./0;OMIM_phenotypes.name=?Lysosomal_acid_phosphatase_deficiency|_200950_(1)|?Lysosomal_acid_phosphatase_deficiency|_200950_(1);dbSNP139.ID=rs71949967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71949967" target="_blank">rs71949967</a>;ExAC.Info.AC=14216;ExAC.Info.AN=122722;ExAC.Info.AF=0.116;ExAC.Info.AC_Het=22292;ExAC.Info.AC_Hom=51;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.298-25_298-24delAC;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299delGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299delGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299delGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299delGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299delGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299delGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299delGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299delGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299delGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299delGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299delGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000256997;SAVANT_GENE=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;SAVANT_INFO=-/9.6kb/11/2.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.298-25_298-24delAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACP2+c.298-25_298-24delAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47267408">View</a>	GT:AD:DP:GQ:PL	./0:22,4:34:99:159,139,981	./0:22,8:58:99:742,725,1872	0/1:35,12:47:99:246,0,1021
11	47267408	.	CGT	CGTGT	2834.29	PASS	InheritancePattern=Normal;AC=2;AF=0.400;AN=5;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=0/1;OMIM_phenotypes.name=?Lysosomal_acid_phosphatase_deficiency|_200950_(1)|?Lysosomal_acid_phosphatase_deficiency|_200950_(1);ExAC.Info.AC=16368;ExAC.Info.AN=122722;ExAC.Info.AF=0.133;ExAC.Info.AC_Het=22292;ExAC.Info.AC_Hom=51;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.298-25_298-26insAC;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299insGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299insGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299insGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299insGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299insGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299insGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299insGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299insGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299insGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299insGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.298_299insGT;snpeff.Amino_Acid_length=423;snpeff.Gene_Name=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256997;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000256997;SAVANT_GENE=ACP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACP2" target="_blank">ACP2</a>;SAVANT_INFO=-/9.6kb/11/2.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.298-25_298-24dupAC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ACP2+c.298-25_298-24dupAC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47267408">View</a>	GT:AD:DP:GQ:PL	0/1:22,8:34:99:159,0,620	0/1:22,28:58:99:742,0,566	./0:35,0:47:99:246,371,1405
11	47298360	.	G	A	59397.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=781;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs326214;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=326214" target="_blank">rs326214</a>;ExAC.Info.AC=74912;ExAC.Info.AN=126704;ExAC.Info.AF=0.591;ExAC.Info.AC_Het=28100;ExAC.Info.AC_Hom=23404;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041G>A;snpeff.Amino_Acid_length=1647;snpeff.Gene_Name=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311027;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041G>A;snpeff.Amino_Acid_length=1647;snpeff.Gene_Name=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311027;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041G>A;snpeff.Amino_Acid_length=1647;snpeff.Gene_Name=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311027;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DENN];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1041G>A;snpeff.Amino_Acid_length=1647;snpeff.Gene_Name=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311027;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaG/gaA;snpeff.Amino_Acid_Change=p.Glu347Glu/c.1041G>A;snpeff.Amino_Acid_length=1647;snpeff.Gene_Name=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311027;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311027;SAVANT_GENE=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;SAVANT_INFO=+/60.4kb/36/6.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1041G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MADD+c.1041G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47298360">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,227:227:99:7675,682,0:127	1|1:0,298:298:99:10335,895,0:127	1|1:0,256:256:99:8734,769,0:127
11	47303275	.	T	C	35719.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=454;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs326217;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=326217" target="_blank">rs326217</a>;ExAC.Info.AC=38056;ExAC.Info.AN=126696;ExAC.Info.AF=0.300;ExAC.Info.AC_Het=26368;ExAC.Info.AC_Hom=5815;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn480Asn/c.1440T>C;snpeff.Amino_Acid_length=1647;snpeff.Gene_Name=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311027;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311027;SAVANT_GENE=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;SAVANT_INFO=+/60.4kb/36/6.0kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1440T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MADD+c.1440T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47303275">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:4636,397,0:127	1|1:0,163:163:99:5555,489,0:127	1|1:0,159:159:99:5483,477,0:127
11	47331116	.	T	C	22150.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=246;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1017594;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1017594" target="_blank">rs1017594</a>;ExAC.Info.AC=126548;ExAC.Info.AN=126704;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=154;ExAC.Info.AC_Hom=63195;snpeff.Effect=sequence_feature[domain:Death];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4111T>C;snpeff.Amino_Acid_length=1647;snpeff.Gene_Name=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311027;snpeff.Exon_Rank=27;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Death];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4111T>C;snpeff.Amino_Acid_length=1647;snpeff.Gene_Name=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311027;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Death];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.4111T>C;snpeff.Amino_Acid_length=1647;snpeff.Gene_Name=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311027;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu1371Leu/c.4111T>C;snpeff.Amino_Acid_length=1647;snpeff.Gene_Name=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311027;snpeff.Exon_Rank=28;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311027;SAVANT_GENE=MADD;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MADD" target="_blank">MADD</a>;SAVANT_INFO=+/60.4kb/36/6.0kb;SAVANT_LOC=Ex28;SAVANT_HGVS=c.4111T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MADD+c.4111T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47331116">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,86:86:99:2915,258,0:127	1|1:0,91:91:99:3188,273,0:127	1|1:1,68:69:99:2584,182,0:127
11	47357401	.	A	G	490.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=91;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_4|_115197_(3)|_Cardiomyopathy|_dilated|_1MM|_615396_(3)|_Left_ventricular_noncompaction_10|_615396_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2737+27T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=MYBPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPC3" target="_blank">MYBPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399249;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545968;SAVANT_GENE=MYBPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPC3" target="_blank">MYBPC3</a>;SAVANT_INFO=-/21.3kb/35/4.2kb;SAVANT_LOC=In26/27;SAVANT_HGVS=c.2737+27T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPC3+c.2737+27T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47357401">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,8:34:56:56,0,549:55	0/1:19,8:27:63:63,0,456:55	0/1:20,10:30:76:76,0,328:55
11	47360854	.	C	T	2476.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_4|_115197_(3)|_Cardiomyopathy|_dilated|_1MM|_615396_(3)|_Left_ventricular_noncompaction_10|_615396_(3);dbSNP139.ID=rs72903836;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72903836" target="_blank">rs72903836</a>;ExAC.Info.AC=40;ExAC.Info.AN=125808;ExAC.Info.AF=3.179e-04;ExAC.Info.AC_Het=40;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.2148+21G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=MYBPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPC3" target="_blank">MYBPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399249;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545968;SAVANT_GENE=MYBPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPC3" target="_blank">MYBPC3</a>;SAVANT_INFO=-/21.3kb/35/4.2kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.2148+21G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPC3+c.2148+21G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47360854">View</a>	GT:AD:DP:GQ:PL:TP	0|0:107,0:107:99:0,321,3736:127	0|0:111,0:111:99:0,333,3845:127	0|1:58,46:104:99:1257,0,1835:127
11	47362642	.	C	T	4466.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=489;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_4|_115197_(3)|_Cardiomyopathy|_dilated|_1MM|_615396_(3)|_Left_ventricular_noncompaction_10|_615396_(3);dbSNP139.ID=rs11570086;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11570086" target="_blank">rs11570086</a>;ExAC.Info.AC=1516;ExAC.Info.AN=124326;ExAC.Info.AF=0.012;ExAC.Info.AC_Het=954;ExAC.Info.AC_Hom=9;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1897+47G>A;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=MYBPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPC3" target="_blank">MYBPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399249;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545968;SAVANT_GENE=MYBPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPC3" target="_blank">MYBPC3</a>;SAVANT_INFO=-/21.3kb/35/4.2kb;SAVANT_LOC=In19/20;SAVANT_HGVS=c.1897+47G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPC3+c.1897+47G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47362642">View</a>	GT:AD:DP:GQ:PL:TP	0|0:136,1:137:99:0,382,4780:127	0|0:185,0:185:99:0,558,6493:127	0|1:85,82:167:99:2252,0,2719:127
11	47364762	.	A	G	20120.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_4|_115197_(3)|_Cardiomyopathy|_dilated|_1MM|_615396_(3)|_Left_ventricular_noncompaction_10|_615396_(3);dbSNP139.ID=rs896818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=896818" target="_blank">rs896818</a>;ExAC.Info.AC=123062;ExAC.Info.AN=124484;ExAC.Info.AF=0.989;ExAC.Info.AC_Het=957;ExAC.Info.AC_Hom=53916;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1226+49T>C;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=MYBPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPC3" target="_blank">MYBPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399249;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000545968;SAVANT_GENE=MYBPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPC3" target="_blank">MYBPC3</a>;SAVANT_INFO=-/21.3kb/35/4.2kb;SAVANT_LOC=In14/15;SAVANT_HGVS=c.1226+49T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPC3+c.1226+49T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47364762">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,71:71:99:2618,213,0:127	1|1:0,81:81:99:3050,243,0:127	1|1:0,69:69:99:2549,207,0:127
11	47371484	.	AG	A	16750.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=199;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Cardiomyopathy|_familial_hypertrophic|_4|_115197_(3)|_Cardiomyopathy|_dilated|_1MM|_615396_(3)|_Left_ventricular_noncompaction_10|_615396_(3);dbSNP139.ID=rs11570050;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11570050" target="_blank">rs11570050</a>;ExAC.Info.AC=77811;ExAC.Info.AN=122298;ExAC.Info.AF=0.636;ExAC.Info.AC_Het=16079;ExAC.Info.AC_Hom=16538;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000035638;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.506-12delC;snpeff.Amino_Acid_length=1274;snpeff.Gene_Name=MYBPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPC3" target="_blank">MYBPC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399249;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000545968;SAVANT_GENE=MYBPC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPC3" target="_blank">MYBPC3</a>;SAVANT_INFO=-/21.3kb/35/4.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.506-12delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MYBPC3+c.506-12delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47371484">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000035638" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2106,186,0:127	1|1:0,76:76:99:2584,228,0:127	1|1:0,61:61:99:2095,184,0:127
11	47380305	.	G	A	1010.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=119;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72903845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72903845" target="_blank">rs72903845</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.496+90C>T;snpeff.Amino_Acid_length=271;snpeff.Gene_Name=SPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPI1" target="_blank">SPI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227163;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227163;SAVANT_GENE=SPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPI1" target="_blank">SPI1</a>;SAVANT_INFO=-/23.5kb/5/1.2kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.496+90C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPI1+c.496+90C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47380305">View</a>	GT:AD:DP:GQ:PL:TP	0|0:26,0:26:78:0,78,990:77	0|0:51,0:51:99:0,153,1935:77	0|1:24,18:42:99:524,0,703:77
11	47380593	.	G	A	6751.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=75;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3740689;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3740689" target="_blank">rs3740689</a>;ExAC.Info.AC=58724;ExAC.Info.AN=118622;ExAC.Info.AF=0.495;ExAC.Info.AC_Het=21172;ExAC.Info.AC_Hom=12703;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.334-36C>T;snpeff.Amino_Acid_length=271;snpeff.Gene_Name=SPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPI1" target="_blank">SPI1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227163;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227163;SAVANT_GENE=SPI1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPI1" target="_blank">SPI1</a>;SAVANT_INFO=-/23.5kb/5/1.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.334-36C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SPI1+c.334-36C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47380593">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:837,75,0:65	1|1:0,22:22:66:782,66,0:65	1|1:0,28:28:84:888,84,0:65
11	47431728	.	A	G	23801.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spondylocheirodysplasia|_Ehlers-Danlos_syndrome-like|_612350_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2010519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2010519" target="_blank">rs2010519</a>;ExAC.Info.AC=124530;ExAC.Info.AN=126476;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1517;ExAC.Info.AC_Hom=60224;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.83A>G;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362021;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAa/gGa;snpeff.Amino_Acid_Change=p.Glu28Gly/c.83A>G;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362021;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362021;SAVANT_GENE=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;SAVANT_INFO=+/7.9kb/10/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.83A>G_p.Glu28Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A13+c.83A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47431728">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2901,223,0:127	1|1:0,103:103:99:4016,310,0:127	1|1:0,93:93:99:3507,280,0:127
11	47431777	.	G	A	3798.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=357;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;OMIM_phenotypes.name=Spondylocheirodysplasia|_Ehlers-Danlos_syndrome-like|_612350_(3);dbSNP139.ID=rs201425631;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=201425631" target="_blank">rs201425631</a>;ExAC.Info.AC=3;ExAC.Info.AN=126696;ExAC.Info.AF=2.368e-05;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.132G>A;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362021;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr44Thr/c.132G>A;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362021;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362021;SAVANT_GENE=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;SAVANT_INFO=+/7.9kb/10/2.3kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.132G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A13+c.132G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47431777">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,261,3152:127	0|1:83,65:148:99:1918,0,2501:127	0|0:122,0:122:99:0,366,4257:127
11	47431966	.	C	T	36322.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spondylocheirodysplasia|_Ehlers-Danlos_syndrome-like|_612350_(3);dbSNP139.ID=rs755555;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=755555" target="_blank">rs755555</a>;ExAC.Info.AC=38812;ExAC.Info.AN=126702;ExAC.Info.AF=0.306;ExAC.Info.AC_Het=26356;ExAC.Info.AC_Hom=6153;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.301+20C>T;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362021;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.302C>T;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362021;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.302C>T;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362021;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362021;SAVANT_GENE=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;SAVANT_INFO=+/7.9kb/10/2.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.301+20C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A13+c.301+20C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47431966">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,144:144:99:4805,432,0:127	1|1:0,167:167:99:5651,500,0:127	1|1:0,141:141:99:4909,424,0:127
11	47436531	.	G	T	14880.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=170;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Spondylocheirodysplasia|_Ehlers-Danlos_syndrome-like|_612350_(3);dbSNP139.ID=rs11039228;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11039228" target="_blank">rs11039228</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.920-59G>T;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362021;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.920G>T;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362021;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Lumenal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.920G>T;snpeff.Amino_Acid_length=371;snpeff.Gene_Name=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000362021;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000362021;SAVANT_GENE=SLC39A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A13" target="_blank">SLC39A13</a>;SAVANT_INFO=+/7.9kb/10/2.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.920-59G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC39A13+c.920-59G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47436531">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,62:63:99:2209,166,0:110	1|1:0,70:70:99:2612,211,0:110	1|1:0,37:37:99:1408,111,0:110
11	47446292	.	A	T	4992.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=67;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs55927797;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55927797" target="_blank">rs55927797</a>;ExAC.Info.AC=40284;ExAC.Info.AN=126702;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=27054;ExAC.Info.AC_Hom=6562;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.286-30T>A;snpeff.Amino_Acid_length=439;snpeff.Gene_Name=PSMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMC3" target="_blank">PSMC3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000298852;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298852;SAVANT_GENE=PSMC3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMC3" target="_blank">PSMC3</a>;SAVANT_INFO=-/7.7kb/12/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.286-30T>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PSMC3+c.286-30T>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47446292">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,20:20:60:598,60,0:62	1|1:0,26:26:78:860,78,0:62	1|1:0,21:21:63:678,63,0:62
11	47460306	.	A	G	14159.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_acetylcholine_receptor_deficiency|_608931_(3)|_Myasthenic_syndrome|_congenital|_associated_with_facial_dysmorphism_and_acetylcholine_receptor_deficiency|_608931_(3)|_Fetal_akinesia_deformation_sequence|_208150_(3);dbSNP139.ID=rs7126210;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7126210" target="_blank">rs7126210</a>;ExAC.Info.AC=72646;ExAC.Info.AN=118680;ExAC.Info.AF=0.612;ExAC.Info.AC_Het=12119;ExAC.Info.AC_Hom=11236;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118117;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu331Leu/c.991T>C;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=RAPSN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAPSN" target="_blank">RAPSN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524487;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298854;SAVANT_GENE=RAPSN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAPSN" target="_blank">RAPSN</a>;SAVANT_INFO=-/11.4kb/8/1.7kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1143T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAPSN+c.1143T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47460306">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118117" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1867,153,0:127	1|1:0,54:54:99:2076,162,0:127	1|1:0,50:50:99:1928,150,0:127
11	47463483	.	AG	A	21062.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_acetylcholine_receptor_deficiency|_608931_(3)|_Myasthenic_syndrome|_congenital|_associated_with_facial_dysmorphism_and_acetylcholine_receptor_deficiency|_608931_(3)|_Fetal_akinesia_deformation_sequence|_208150_(3);dbSNP139.ID=rs34729771;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34729771" target="_blank">rs34729771</a>;ExAC.Info.AC=73055;ExAC.Info.AN=116444;ExAC.Info.AF=0.627;ExAC.Info.AC_Het=9452;ExAC.Info.AC_Hom=11012;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.532-11delC;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=RAPSN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAPSN" target="_blank">RAPSN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000298854;SAVANT_GENE=RAPSN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAPSN" target="_blank">RAPSN</a>;SAVANT_INFO=-/11.4kb/8/1.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.691-11delC;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAPSN+c.691-11delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47463483">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3470,280,0:125	1|1:0,92:92:99:3362,277,0:125	1|1:0,42:42:99:1541,126,0:125
11	47469439	.	A	G	33904.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=390;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_acetylcholine_receptor_deficiency|_608931_(3)|_Myasthenic_syndrome|_congenital|_associated_with_facial_dysmorphism_and_acetylcholine_receptor_deficiency|_608931_(3)|_Fetal_akinesia_deformation_sequence|_208150_(3);dbSNP139.ID=rs7111873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7111873" target="_blank">rs7111873</a>;ExAC.Info.AC=85821;ExAC.Info.AN=126620;ExAC.Info.AF=0.678;ExAC.Info.AC_Het=25604;ExAC.Info.AC_Hom=29035;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000118119;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr152Tyr/c.456T>C;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=RAPSN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAPSN" target="_blank">RAPSN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524487;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298854;SAVANT_GENE=RAPSN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAPSN" target="_blank">RAPSN</a>;SAVANT_INFO=-/11.4kb/8/1.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.456T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAPSN+c.456T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47469439">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000118119" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4320,376,0:127	1|1:0,157:157:99:5224,472,0:127	1|1:0,108:108:99:3743,325,0:127
11	47470355	.	C	T	14379.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=654;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;OMIM_phenotypes.name=Myasthenic_syndrome|_congenital|_associated_with_acetylcholine_receptor_deficiency|_608931_(3)|_Myasthenic_syndrome|_congenital|_associated_with_facial_dysmorphism_and_acetylcholine_receptor_deficiency|_608931_(3)|_Fetal_akinesia_deformation_sequence|_208150_(3);dbSNP139.ID=rs72905825;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72905825" target="_blank">rs72905825</a>;ExAC.Info.AC=402;ExAC.Info.AN=126698;ExAC.Info.AF=3.173e-03;ExAC.Info.AC_Het=401;ExAC.Info.AC_Hom=0;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcG/tcA;snpeff.Amino_Acid_Change=p.Ser54Ser/c.162G>A;snpeff.Amino_Acid_length=424;snpeff.Gene_Name=RAPSN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAPSN" target="_blank">RAPSN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524487;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000298854;SAVANT_GENE=RAPSN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAPSN" target="_blank">RAPSN</a>;SAVANT_INFO=-/11.4kb/8/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.162G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RAPSN+c.162G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47470355">View</a>	GT:AD:DP:GQ:PL:TP	1|0:121,93:214:99:2742,0,3523:127	0|0:260,0:260:99:0,781,8980:127	1|0:81,99:180:99:2949,0,2296:127
11	47609867	.	G	A	26503.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=328;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4486587;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4486587" target="_blank">rs4486587</a>;ExAC.Info.AC=24923;ExAC.Info.AN=25156;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=158;ExAC.Info.AC_Hom=10961;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala186Thr/c.556G>A;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=FAM180B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM180B" target="_blank">FAM180B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000356737;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000356737;SAVANT_GENE=FAM180B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM180B" target="_blank">FAM180B</a>;SAVANT_INFO=+/2.5kb/3/1.4kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.556G>A_p.Ala186Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FAM180B+c.556G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47609867">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:3601,351,0:127	1|1:0,121:121:99:4121,363,0:127	1|1:0,90:90:99:2918,270,0:127
11	47640429	.	G	C	36983.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=453;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=D|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1064608;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1064608" target="_blank">rs1064608</a>;cosmic68.Histology_subtype=adenocarcinoma;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Body_mass_index|_association_with;hgmd_2014.2.OMIM_ID=613221;hgmd_2014.2.PubMed=19079261;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19079261" target="_blank">19079261</a>;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ccc/Gcc;snpeff.Amino_Acid_Change=p.Pro290Ala/c.868C>G;snpeff.Amino_Acid_length=303;snpeff.Gene_Name=MTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTCH2" target="_blank">MTCH2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302503;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302503;SAVANT_GENE=MTCH2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTCH2" target="_blank">MTCH2</a>;SAVANT_INFO=-/25.3kb/13/2.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.868C>G_p.Pro290Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MTCH2+c.868C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47640429">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,138:138:99:4813,415,0:127	1|1:0,166:166:99:5580,498,0:127	1|1:0,149:149:99:5224,448,0:127
11	47701528	.	C	A	22443.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=309;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12286721;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12286721" target="_blank">rs12286721</a>;ExAC.Info.AC=72580;ExAC.Info.AN=126702;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=30199;ExAC.Info.AC_Hom=21179;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atT;snpeff.Amino_Acid_Change=p.Met671Ile/c.2013G>T;snpeff.Amino_Acid_length=904;snpeff.Gene_Name=AGBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL2" target="_blank">AGBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357610;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000525123;SAVANT_GENE=AGBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL2" target="_blank">AGBL2</a>;SAVANT_INFO=-/55.8kb/19/3.6kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2013G>T_p.Met671Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGBL2+c.2013G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47701528">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:3325,336,0:127	1|1:0,114:114:99:3642,342,0:127	1|1:0,83:83:99:2785,249,0:127
11	47727193	.	C	CA	243.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=21;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11418886;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11418886" target="_blank">rs11418886</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.287-7_287-8insT;snpeff.Amino_Acid_length=904;snpeff.Gene_Name=AGBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL2" target="_blank">AGBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357610;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287_288insT;snpeff.Amino_Acid_length=904;snpeff.Gene_Name=AGBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL2" target="_blank">AGBL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357610;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000525123;SAVANT_GENE=AGBL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGBL2" target="_blank">AGBL2</a>;SAVANT_INFO=-/55.8kb/19/3.6kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.287-8dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AGBL2+c.287-8dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47727193">View</a>	GT:AD:DP:GQ:PL:TP	0/1:2,3:5:33:55,0,33:32	0/1:4,3:7:49:49,0,49:32	0/1:5,4:9:47:47,0,69:32
11	47755552	.	CAA	CA	891.63	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1686+23delT;snpeff.Amino_Acid_length=1017;snpeff.Gene_Name=FNBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNBP4" target="_blank">FNBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263773;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263773;SAVANT_GENE=FNBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNBP4" target="_blank">FNBP4</a>;SAVANT_INFO=-/50.8kb/17/4.0kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1686+24delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FNBP4+c.1686+24delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47755552">View</a>	GT:AD:DP:GQ:PL	0/1:15,12:32:99:250,0,202	0/1:20,4:29:48:48,0,285	0/1:22,7:34:99:107,0,347
11	47776047	.	G	A	13225.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=172;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7928954;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7928954" target="_blank">rs7928954</a>;ExAC.Info.AC=125333;ExAC.Info.AN=125338;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=62121;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.450+33C>T;snpeff.Amino_Acid_length=1017;snpeff.Gene_Name=FNBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNBP4" target="_blank">FNBP4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263773;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263773;SAVANT_GENE=FNBP4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FNBP4" target="_blank">FNBP4</a>;SAVANT_INFO=-/50.8kb/17/4.0kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.450+33C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FNBP4+c.450+33C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47776047">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,62:62:99:2012,186,0:127	1|1:0,54:54:99:1910,162,0:127	1|1:0,56:56:99:1952,168,0:127
11	47813436	.	C	T	20442.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=271;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10742821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10742821" target="_blank">rs10742821</a>;ExAC.Info.AC=126570;ExAC.Info.AN=126700;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=130;ExAC.Info.AC_Hom=63184;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3511+46G>A;snpeff.Amino_Acid_length=1436;snpeff.Gene_Name=NUP160;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP160" target="_blank">NUP160</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378460;snpeff.Exon_Rank=29;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378460;SAVANT_GENE=NUP160;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=NUP160" target="_blank">NUP160</a>;SAVANT_INFO=-/70.4kb/36/5.4kb;SAVANT_LOC=In29/30;SAVANT_HGVS=c.3511+46G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=NUP160+c.3511+46G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:47813436">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,78:78:99:2594,234,0:127	1|1:0,103:103:99:3527,310,0:127	1|1:0,90:90:99:2999,270,0:127
11	48118347	.	T	TA	24173.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Colon_cancer|_somatic|_114500_(3);dbSNP139.ID=rs11382316;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11382316" target="_blank">rs11382316</a>;ExAC.Info.AC=2926;ExAC.Info.AN=4356;ExAC.Info.AF=0.672;ExAC.Info.AC_Het=339;ExAC.Info.AC_Hom=631;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.15_16insA;snpeff.Gene_Name=MIR3161;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR3161" target="_blank">MIR3161</a>;snpeff.Transcript_BioType=miRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000577977;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.97-13262_97-13261insA;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR3161" target="_blank">MIR3161</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.97_98insA;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR3161" target="_blank">MIR3161</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.97_98insA;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MIR3161" target="_blank">MIR3161</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000418331;SAVANT_GENE=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;SAVANT_INFO=+/187.6kb/25/5.1kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.97-13261dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRJ+c.97-13261dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48118347">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:4186,355,0:127	1|1:0,108:108:99:3839,325,0:127	1|0:26,51:77:99:1585,0,695:127
11	48142528	.	ATT	A	14114.71	PASS	InheritancePattern=Normal;AC=2;AF=0.667;AN=3;DP=405;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=./1;NA12892_GT=./0;NA12891_GT=./1;OMIM_phenotypes.name=Colon_cancer|_somatic|_114500_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.353-26_353-25delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353_354delTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000418331;SAVANT_GENE=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;SAVANT_INFO=+/187.6kb/25/5.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.353-12_353-11delTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRJ+c.353-12_353-11delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48142528">View</a>	GT:AD:DP:GQ:PL	./1:9,30:125:99:2581,1661,1980	./1:16,40:161:99:3095,1900,2392	./0:44,14:119:99:1277,993,2426
11	48142528	.	ATT	AT	14114.71	PASS	InheritancePattern=Normal;AC=3;AF=0.750;AN=4;DP=405;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=./1;NA12892_GT=0/1;NA12891_GT=./1;OMIM_phenotypes.name=Colon_cancer|_somatic|_114500_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.353-25delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.353delT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000418331;SAVANT_GENE=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;SAVANT_INFO=+/187.6kb/25/5.1kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.353-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRJ+c.353-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48142528">View</a>	GT:AD:DP:GQ:PL	./1:9,86:125:99:2581,527,367	./1:16,105:161:99:3095,592,504	0/1:44,61:119:99:1277,0,641
11	48145247	.	T	C	22980.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=353;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;OMIM_phenotypes.name=Colon_cancer|_somatic|_114500_(3);dbSNP139.ID=rs2270992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270992" target="_blank">rs2270992</a>;ExAC.Info.AC=72549;ExAC.Info.AN=126704;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=28693;ExAC.Info.AC_Hom=21909;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr233Thr/c.699T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418331;SAVANT_GENE=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;SAVANT_INFO=+/187.6kb/25/5.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.699T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRJ+c.699T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48145247">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,122:122:99:4054,366,0:127	1|1:0,123:123:99:4272,369,0:127	1|0:61,47:108:99:1283,0,1863:127
11	48146444	.	G	A	3952.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=411;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Colon_cancer|_somatic|_114500_(3);dbSNP139.ID=rs72903540;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72903540" target="_blank">rs72903540</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.875-76G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_3];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.875G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418331;SAVANT_GENE=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;SAVANT_INFO=+/187.6kb/25/5.1kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.875-76G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRJ+c.875-76G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48146444">View</a>	GT:AD:DP:GQ:PL:TP	0|0:136,0:136:99:0,408,4690:127	0|0:156,0:156:99:0,468,5553:127	0|1:51,68:119:99:1995,0,1539:127
11	48157869	.	T	C	20027.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2270994;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270994" target="_blank">rs2270994</a>;ExAC.Info.AC=72569;ExAC.Info.AN=126668;ExAC.Info.AF=0.573;ExAC.Info.AC_Het=28494;ExAC.Info.AC_Hom=21780;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1873+21T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_7];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1874T>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418331;SAVANT_GENE=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;SAVANT_INFO=+/187.6kb/25/5.1kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1873+21T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRJ+c.1873+21T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48157869">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,83:83:99:2818,249,0:127	1|1:1,128:129:99:4357,378,0:127	1|0:45,34:79:99:887,0,1186:127
11	48166267	.	G	C	40400.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=657;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4752904;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4752904" target="_blank">rs4752904</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Thyroid_cancer|_risk|_association_with;hgmd_2014.2.OMIM_ID=600925;hgmd_2014.2.PubMed=15378013;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=15378013" target="_blank">15378013</a>;ExAC.Info.AC=65318;ExAC.Info.AN=126702;ExAC.Info.AF=0.516;ExAC.Info.AC_Het=28864;ExAC.Info.AC_Hom=18199;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Fibronectin_type-III_9];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu872Asp/c.2616G>C;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418331;SAVANT_GENE=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;SAVANT_INFO=+/187.6kb/25/5.1kb;SAVANT_LOC=Ex13;SAVANT_HGVS=c.2616G>C_p.Glu872Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRJ+c.2616G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48166267">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,170:171:99:5973,475,0:127	1|1:0,239:239:99:8256,718,0:127	1|0:120,127:247:99:3546,0,3522:127
11	48170870	.	T	G	25202.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=337;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4752908;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4752908" target="_blank">rs4752908</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3000-129T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3000T>G;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418331;SAVANT_GENE=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;SAVANT_INFO=+/187.6kb/25/5.1kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.3000-129T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRJ+c.3000-129T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48170870">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3733,340,0:127	1|1:0,120:120:99:4037,361,0:127	1|1:0,104:104:99:3602,313,0:127
11	48184971	.	CCTTT	C	37210.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=399;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs3830431;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3830431" target="_blank">rs3830431</a>;ExAC.Info.AC=63978;ExAC.Info.AN=126676;ExAC.Info.AF=0.505;ExAC.Info.AC_Het=28909;ExAC.Info.AC_Hom=17190;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3559-38_3559-35delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559_3562delCTTT;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000418331;SAVANT_GENE=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;SAVANT_INFO=+/187.6kb/25/5.1kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3559-36_3559-33delTTCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRJ+c.3559-36_3559-33delTTCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48184971">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,131:131:99:5891,397,0:127	1|1:0,155:155:99:7100,482,0:127	1|0:48,65:113:99:2593,0,2289:127
11	48184983	.	G	T	40007.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2270990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2270990" target="_blank">rs2270990</a>;ExAC.Info.AC=94741;ExAC.Info.AN=126674;ExAC.Info.AF=0.748;ExAC.Info.AC_Het=23184;ExAC.Info.AC_Hom=35413;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.3559-27G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:Tyrosine-protein_phosphatase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3559G>T;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418331;SAVANT_GENE=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;SAVANT_INFO=+/187.6kb/25/5.1kb;SAVANT_LOC=In22/23;SAVANT_HGVS=c.3559-27G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRJ+c.3559-27G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48184983">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,141:141:99:6260,428,0:127	1|1:0,173:173:99:7590,521,0:127	1|0:51,73:124:99:2837,0,2316:127
11	48188872	.	G	A	9146.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=979;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs12809012;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12809012" target="_blank">rs12809012</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=7534;ExAC.Info.AN=126704;ExAC.Info.AF=0.059;ExAC.Info.AC_Het=7008;ExAC.Info.AC_Hom=262;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=23;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=24;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=21;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=22;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala1324Ala/c.3972G>A;snpeff.Amino_Acid_length=1337;snpeff.Gene_Name=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000418331;snpeff.Exon_Rank=25;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000418331;SAVANT_GENE=PTPRJ;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPRJ" target="_blank">PTPRJ</a>;SAVANT_INFO=+/187.6kb/25/5.1kb;SAVANT_LOC=Ex25;SAVANT_HGVS=c.3972G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PTPRJ+c.3972G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48188872">View</a>	GT:AD:DP:GQ:PL:TP	0|0:300,0:300:99:0,900,10386:127	0|0:336,0:336:99:0,1009,11824:127	0|1:178,165:343:99:4592,0,5151:127
11	48238421	.	T	G	11386.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10769329;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10769329" target="_blank">rs10769329</a>;ExAC.Info.AC=125938;ExAC.Info.AN=126700;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=720;ExAC.Info.AC_Hom=62583;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.60T>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4B1" target="_blank">OR4B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309562;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcG;snpeff.Amino_Acid_Change=p.Ala20Ala/c.60T>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4B1" target="_blank">OR4B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309562;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309562;SAVANT_GENE=OR4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4B1" target="_blank">OR4B1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.60T>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4B1+c.60T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48238421">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,33:33:99:1141,99,0:127	1|1:0,54:54:99:1962,162,0:127	1|1:0,47:47:99:1691,141,0:127
11	48239071	.	C	A	2634.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=339;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12292056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12292056" target="_blank">rs12292056</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=8614;ExAC.Info.AN=126700;ExAC.Info.AF=0.068;ExAC.Info.AC_Het=7734;ExAC.Info.AC_Hom=438;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.710C>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4B1" target="_blank">OR4B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309562;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aAc;snpeff.Amino_Acid_Change=p.Thr237Asn/c.710C>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4B1" target="_blank">OR4B1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309562;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309562;SAVANT_GENE=OR4B1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4B1" target="_blank">OR4B1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.710C>A_p.Thr237Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4B1+c.710C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48239071">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,304,3879:127	0|0:134,0:134:99:0,403,5169:127	0|1:59,45:104:99:1336,0,1845:127
11	48266582	.	A	C	23657.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=280;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7120549;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7120549" target="_blank">rs7120549</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7120549" target="_blank">rs7120549</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48266582">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,74:74:99:2764,223,0:127	1|1:0,118:118:99:4217,355,0:127	1|1:0,88:88:99:3191,264,0:127
11	48285842	.	A	G	37650.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1503193;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1503193" target="_blank">rs1503193</a>;ExAC.Info.AC=126322;ExAC.Info.AN=126698;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=360;ExAC.Info.AC_Hom=62948;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.430A>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agg/Ggg;snpeff.Amino_Acid_Change=p.Arg144Gly/c.430A>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320048;SAVANT_GENE=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.430A>G_p.Arg144Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4X1+c.430A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48285842">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,121:121:99:4270,364,0:127	1|1:0,179:179:99:6448,538,0:127	1|1:0,133:133:99:4767,400,0:127
11	48285856	.	C	T	29485.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs10838850;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10838850" target="_blank">rs10838850</a>;ExAC.Info.AC=89217;ExAC.Info.AN=126694;ExAC.Info.AF=0.704;ExAC.Info.AC_Het=24861;ExAC.Info.AC_Hom=32126;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.444C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.444C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly148Gly/c.444C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320048;SAVANT_GENE=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.444C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4X1+c.444C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48285856">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,116:116:99:3710,347,0:127	1|1:0,175:175:99:6053,525,0:127	1|0:60,61:121:99:1766,0,1842:127
11	48285981	.	CCTT	C	42865.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=498;MQ=70.01;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs76884411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76884411" target="_blank">rs76884411</a>;ExAC.Info.AC=89110;ExAC.Info.AN=126688;ExAC.Info.AF=0.703;ExAC.Info.AC_Het=24906;ExAC.Info.AC_Hom=31948;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.570_572delCTT;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=inframe_deletion;snpeff.Effect_Impact=MODERATE;snpeff.Codon_Change=accttc/acc;snpeff.Amino_Acid_Change=p.Thr190_Phe191del/c.570_572delCTT;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000320048;SAVANT_GENE=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.574_576delTTC_p.Phe192del;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=IF;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4X1+c.574_576delTTC+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48285981">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,136:136:99:6039,410,0:127	1|1:0,190:190:99:8453,572,0:127	1|0:95,77:172:99:2850,0,3838:127
11	48286231	.	T	A	34178.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=480;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs10838851;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10838851" target="_blank">rs10838851</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Altered_pulmonary_function|_association_with;hgmd_2014.2.PubMed=17964544;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=17964544" target="_blank">17964544</a>;ExAC.Info.AC=89238;ExAC.Info.AN=126700;ExAC.Info.AF=0.704;ExAC.Info.AC_Het=24858;ExAC.Info.AC_Hom=32173;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.819T>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=taT/taA;snpeff.Amino_Acid_Change=p.Tyr273*/c.819T>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320048;SAVANT_GENE=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.819T>A_p.Tyr273X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4X1+c.819T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48286231">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:5823,472,0:127	1|1:0,172:172:99:6783,526,0:127	1|0:83,68:151:99:1775,0,2184:127
11	48286234	.	A	G	9993.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=481;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs61732322;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61732322" target="_blank">rs61732322</a>;ExAC.Info.AC=5486;ExAC.Info.AN=126700;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=5211;ExAC.Info.AC_Hom=136;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.822A>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acA/acG;snpeff.Amino_Acid_Change=p.Thr274Thr/c.822A>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320048;SAVANT_GENE=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.822A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4X1+c.822A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48286234">View</a>	GT:AD:DP:GQ:PL:TP	0|1:92,66:158:99:1816,0,2516:127	1|0:89,84:173:99:2322,0,2614:127	0|0:150,0:150:99:0,460,6367:127
11	48286256	.	C	T	26776.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=436;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10838852;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10838852" target="_blank">rs10838852</a>;ExAC.Info.AC=64963;ExAC.Info.AN=126696;ExAC.Info.AF=0.513;ExAC.Info.AC_Het=29188;ExAC.Info.AC_Hom=17857;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.844C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro282Ser/c.844C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000320048;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000320048;SAVANT_GENE=OR4X1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4X1" target="_blank">OR4X1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.844C>T_p.Pro282Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4X1+c.844C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48286256">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,141:141:99:4459,423,0:127	1|1:0,163:163:99:5535,489,0:127	1|0:73,59:132:99:1526,0,2118:127
11	48328121	.	T	C	3198.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=344;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35930119;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35930119" target="_blank">rs35930119</a>;ExAC.Info.AC=1757;ExAC.Info.AN=126522;ExAC.Info.AF=0.014;ExAC.Info.AC_Het=1599;ExAC.Info.AC_Hom=79;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.347T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4S1" target="_blank">OR4S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.347T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4S1" target="_blank">OR4S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met116Thr/c.347T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4S1" target="_blank">OR4S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319988;SAVANT_GENE=OR4S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4S1" target="_blank">OR4S1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.347T>C_p.Met116Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4S1+c.347T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48328121">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,328,3727:127	0|0:132,0:132:99:0,397,4842:127	0|1:49,54:103:99:1618,0,1475:127
11	48328644	.	C	T	7740.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=792;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs753095;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=753095" target="_blank">rs753095</a>;ExAC.Info.AC=42623;ExAC.Info.AN=126704;ExAC.Info.AF=0.336;ExAC.Info.AC_Het=26762;ExAC.Info.AC_Hom=7923;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.870C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4S1" target="_blank">OR4S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn290Asn/c.870C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4S1" target="_blank">OR4S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319988;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319988;SAVANT_GENE=OR4S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4S1" target="_blank">OR4S1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.870C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4S1+c.870C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48328644">View</a>	GT:AD:DP:GQ:PL:TP	0|0:250,0:250:99:0,751,8035:127	0|0:309,0:309:99:0,928,9846:127	0|1:95,138:233:99:3889,0,2585:127
11	48347140	.	T	C	3594.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=383;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs10838874;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10838874" target="_blank">rs10838874</a>;ExAC.Info.AC=69555;ExAC.Info.AN=126694;ExAC.Info.AF=0.549;ExAC.Info.AC_Het=56878;ExAC.Info.AC_Hom=6322;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaT/aaC;snpeff.Amino_Acid_Change=p.Asn216Asn/c.648T>C;snpeff.Amino_Acid_length=329;snpeff.Gene_Name=OR4C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C3" target="_blank">OR4C3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319856;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319856;SAVANT_GENE=OR4C3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C3" target="_blank">OR4C3</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.648T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C3+c.648T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48347140">View</a>	GT:AD:DP:GQ:PL:TP	0|0:114,0:114:99:0,343,3633:127	0|0:157,0:157:99:0,471,4994:127	0|1:52,60:112:99:1816,0,1421:127
11	48367073	.	A	C	52123.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=638;MQ=69.63;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7941588;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7941588" target="_blank">rs7941588</a>;ExAC.Info.AC=24527;ExAC.Info.AN=29552;ExAC.Info.AF=0.830;ExAC.Info.AC_Het=4272;ExAC.Info.AC_Hom=8597;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.764T>G;snpeff.Gene_Name=OR4C4P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C4P" target="_blank">OR4C4P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000415304;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C4P" target="_blank">OR4C4P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C4P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48367073">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,193:193:99:7114,580,0:127	1|1:0,224:224:99:8396,673,0:127	1|1:0,221:221:99:8097,664,0:127
11	48387186	.	A	G	32609.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=459;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1994140;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1994140" target="_blank">rs1994140</a>;ExAC.Info.AC=7105;ExAC.Info.AN=22608;ExAC.Info.AF=0.314;ExAC.Info.AC_Het=5580;ExAC.Info.AC_Hom=117;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.832A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR4C5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C5" target="_blank">OR4C5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe278Leu/c.832T>C;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR4C5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C5" target="_blank">OR4C5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319813;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319813;SAVANT_GENE=OR4C5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C5" target="_blank">OR4C5</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.832T>C_p.Phe278Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C5+c.832T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48387186">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,174:174:99:6190,523,0:127	1|1:0,155:155:99:5653,466,0:127	1|0:53,77:130:99:2414,0,1465:127
11	48453777	.	T	C	62.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=409;MQ=67.49;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs199850755;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199850755" target="_blank">rs199850755</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.923A>G;snpeff.Gene_Name=OR4C10P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C10P" target="_blank">OR4C10P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434991;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C10P" target="_blank">OR4C10P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C10P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48453777">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,6:132:99:0,191,4618:50	0|1:153,17:170:50:50,0,5168:50	0|0:107,0:107:99:0,331,4860:50
11	48453787	.	G	A	15222.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=422;MQ=66.67;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs4882063;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4882063" target="_blank">rs4882063</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.913C>T;snpeff.Gene_Name=OR4C10P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C10P" target="_blank">OR4C10P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000434991;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C10P" target="_blank">OR4C10P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C10P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48453787">View</a>	GT:AD:DP:GQ:PL:TP	1|0:75,59:134:99:1375,0,2340:127	0|1:101,75:176:99:1950,0,3056:127	1|1:0,112:112:99:3607,336,0:127
11	48510654	.	A	C	48378.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=588;MQ=68.90;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7103557;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7103557" target="_blank">rs7103557</a>;ExAC.Info.AC=73102;ExAC.Info.AN=126700;ExAC.Info.AF=0.577;ExAC.Info.AC_Het=29471;ExAC.Info.AC_Hom=21782;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.310A>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4A47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A47" target="_blank">OR4A47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.310A>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4A47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A47" target="_blank">OR4A47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Ctt;snpeff.Amino_Acid_Change=p.Ile104Leu/c.310A>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4A47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A47" target="_blank">OR4A47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000446524;SAVANT_GENE=OR4A47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A47" target="_blank">OR4A47</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.310A>C_p.Ile104Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4A47+c.310A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48510654">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,177:177:99:6351,532,0:127	1|1:1,207:208:99:7402,615,0:127	1|1:0,203:203:99:7247,608,0:127
11	48510777	.	G	A	26353.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=327;MQ=69.54;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7103992;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7103992" target="_blank">rs7103992</a>;ExAC.Info.AC=73087;ExAC.Info.AN=126694;ExAC.Info.AF=0.577;ExAC.Info.AC_Het=29466;ExAC.Info.AC_Hom=21754;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.433G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4A47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A47" target="_blank">OR4A47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.433G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4A47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A47" target="_blank">OR4A47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val145Met/c.433G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4A47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A47" target="_blank">OR4A47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000446524;SAVANT_GENE=OR4A47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A47" target="_blank">OR4A47</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.433G>A_p.Val145Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4A47+c.433G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48510777">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,102:102:99:3607,307,0:127	1|1:0,125:125:99:4400,376,0:127	1|1:0,100:100:99:3668,301,0:127
11	48511315	.	C	T	1660.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs66756334;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66756334" target="_blank">rs66756334</a>;ExAC.Info.AC=7649;ExAC.Info.AN=125966;ExAC.Info.AF=0.061;ExAC.Info.AC_Het=6658;ExAC.Info.AC_Hom=279;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=41;snpeff.Amino_Acid_Change=c.*41C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4A47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A47" target="_blank">OR4A47</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000446524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000446524;SAVANT_GENE=OR4A47;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A47" target="_blank">OR4A47</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*41C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4A47+c.*41C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:48511315">View</a>	GT:AD:DP:GQ:PL:TP	0|0:102,0:102:99:0,306,3488:127	0|0:108,0:108:99:0,325,3812:127	0|1:51,34:85:99:849,0,1512:127
11	49000522	.	C	T	26854.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=351;MQ=69.86;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1963629;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1963629" target="_blank">rs1963629</a>;ExAC.Info.AC=96811;ExAC.Info.AN=126664;ExAC.Info.AF=0.764;ExAC.Info.AC_Het=21480;ExAC.Info.AC_Hom=37327;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.640G>A;snpeff.Gene_Name=TRIM51GP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM51GP" target="_blank">TRIM51GP</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000534741;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM51GP" target="_blank">TRIM51GP</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM51GP+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49000522">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,105:105:99:3271,315,0:127	1|1:0,141:141:99:4735,424,0:127	1|1:0,105:105:99:3496,315,0:127
11	49059362	.	C	A	26904.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=324;MQ=66.39;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2696914;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2696914" target="_blank">rs2696914</a>;ExAC.Info.AC=97456;ExAC.Info.AN=126698;ExAC.Info.AF=0.769;ExAC.Info.AC_Het=20958;ExAC.Info.AC_Hom=38193;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1192C>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=TRIM49B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM49B" target="_blank">TRIM49B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332682;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:B30.2/SPRY];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1192C>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=TRIM49B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM49B" target="_blank">TRIM49B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332682;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ctg/Atg;snpeff.Amino_Acid_Change=p.Leu398Met/c.1192C>A;snpeff.Amino_Acid_length=452;snpeff.Gene_Name=TRIM49B;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM49B" target="_blank">TRIM49B</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332682;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332682;SAVANT_GENE=AC084851.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AC0848511" target="_blank">AC0848511</a>;SAVANT_INFO=+/9.1kb/7/1.4kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1192C>A_p.Leu398Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AC0848511+c.1192C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49059362">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,100:100:99:3291,300,0:127	1|1:0,132:132:99:4533,397,0:127	1|1:0,92:92:99:3205,277,0:127
11	49075533	.	C	T	2568.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=205;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72904501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72904501" target="_blank">rs72904501</a>;ExAC.Info.AC=282;ExAC.Info.AN=28088;ExAC.Info.AF=0.010;ExAC.Info.AC_Het=257;ExAC.Info.AC_Hom=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agG/agA;snpeff.Amino_Acid_Change=p.Arg359Arg/c.1077G>A;snpeff.Amino_Acid_length=447;snpeff.Gene_Name=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530230;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000530230;SAVANT_GENE=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;SAVANT_INFO=-/5.4kb/7/1.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1077G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM64C+c.1077G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49075533">View</a>	GT:AD:DP:GQ:PL:TP	0|0:57,0:57:99:0,171,2146:127	0|0:79,0:79:99:0,238,2915:127	0|1:25,44:69:99:1303,0,757:127
11	49075605	.	G	A	14710.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=161;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2851535;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2851535" target="_blank">rs2851535</a>;ExAC.Info.AC=20027;ExAC.Info.AN=27586;ExAC.Info.AF=0.726;ExAC.Info.AC_Het=4517;ExAC.Info.AC_Hom=6768;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser335Ser/c.1005C>T;snpeff.Amino_Acid_length=447;snpeff.Gene_Name=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530230;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000530230;SAVANT_GENE=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;SAVANT_INFO=-/5.4kb/7/1.3kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1005C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM64C+c.1005C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49075605">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1524,126,0:127	1|1:0,71:71:99:2684,213,0:127	1|1:0,48:48:99:1824,144,0:127
11	49076963	.	C	CAA	14601.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=163;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs34650085;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34650085" target="_blank">rs34650085</a>;ExAC.Info.AC=8750;ExAC.Info.AN=17488;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=5334;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.753-4_753-5insTT;snpeff.Amino_Acid_length=447;snpeff.Gene_Name=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530230;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753_754insTT;snpeff.Amino_Acid_length=447;snpeff.Gene_Name=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530230;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000530230;SAVANT_GENE=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;SAVANT_INFO=-/5.4kb/7/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.753-6_753-5dupTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM64C+c.753-6_753-5dupTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49076963">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,48:49:99:1774,117,0:127	1|1:0,63:63:99:2338,207,0:127	1|1:0,51:51:99:1843,153,0:127
11	49077012	.	C	T	14690.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2773242;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2773242" target="_blank">rs2773242</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.753-53G>A;snpeff.Amino_Acid_length=447;snpeff.Gene_Name=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530230;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000530230;SAVANT_GENE=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;SAVANT_INFO=-/5.4kb/7/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.753-53G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM64C+c.753-53G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49077012">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:1791,182,0:127	1|1:0,87:87:99:2739,259,0:127	1|1:0,59:59:99:1868,177,0:127
11	49077889	.	AT	A	29458.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=463;MQ=70.01;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs36015501;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=36015501" target="_blank">rs36015501</a>;ExAC.Info.AC=19396;ExAC.Info.AN=27020;ExAC.Info.AF=0.718;ExAC.Info.AC_Het=4565;ExAC.Info.AC_Hom=6488;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.752+21delA;snpeff.Amino_Acid_length=447;snpeff.Gene_Name=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530230;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000530230;SAVANT_GENE=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;SAVANT_INFO=-/5.4kb/7/1.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.752+21delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM64C+c.752+21delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49077889">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,132:132:99:3593,394,0:127	1|1:2,190:192:99:5192,526,0:127	1|1:0,139:139:99:3864,416,0:127
11	49080616	.	T	C	13938.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=214;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs60452246;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=60452246" target="_blank">rs60452246</a>;ExAC.Info.AC=32787;ExAC.Info.AN=91132;ExAC.Info.AF=0.360;ExAC.Info.AC_Het=6971;ExAC.Info.AC_Hom=3004;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile17Val/c.49A>G;snpeff.Amino_Acid_length=447;snpeff.Gene_Name=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000530230;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000530230;SAVANT_GENE=TRIM64C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM64C" target="_blank">TRIM64C</a>;SAVANT_INFO=-/5.4kb/7/1.3kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.49A>G_p.Ile17Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM64C+c.49A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49080616">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,65:65:99:2096,195,0:127	1|1:0,90:90:99:2772,269,0:127	1|0:22,37:59:99:967,0,626:127
11	49144969	.	G	GT	1471.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=236;MQ=69.25;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs199997495;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199997495" target="_blank">rs199997495</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.420+734_420+733insA;snpeff.Gene_Name=RP11-107P7.5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-107P75" target="_blank">RP11-107P75</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000524985;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-107P75" target="_blank">RP11-107P75</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-107P75+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49144969">View</a>	GT:AD:DP:GQ:PL:TP	0|0:72,0:72:99:0,217,2045:127	0|0:94,0:94:99:0,282,2636:127	0|1:36,34:70:99:759,0,808:127
11	49176057	.	C	T	3643.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=85;MQ=54.03;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2988340;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2988340" target="_blank">rs2988340</a>;ExAC.Info.AC=75975;ExAC.Info.AN=126276;ExAC.Info.AF=0.602;ExAC.Info.AC_Het=27152;ExAC.Info.AC_Hom=21618;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1624-13G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" 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target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1624C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256999;SAVANT_GENE=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;SAVANT_INFO=-/62.0kb/19/2.6kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1624-13G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOLH1+c.1624-13G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49176057">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,12:12:36:398,36,0:36	1|1:0,24:24:72:844,72,0:36	1|0:37,12:49:99:295,0,1271:36
11	49195090	.	T	C	12833.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=186;MQ=66.43;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs202718;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=202718" target="_blank">rs202718</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1106-62A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" 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target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" 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target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" 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target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256999;SAVANT_GENE=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;SAVANT_INFO=-/62.0kb/19/2.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1106-62A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOLH1+c.1106-62A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49195090">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,48:48:99:1726,144,0:127	1|1:0,68:68:99:2510,205,0:127	1|0:39,31:70:99:904,0,1193:127
11	49195127	.	C	CA	1845.59	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=52;MQ=67.69;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs146564769;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=146564769" target="_blank">rs146564769</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1106-99_1106-100insT;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106_1107insA;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106_1107insA;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106_1107insA;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" 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target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106_1107insA;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106_1107insA;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" 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target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106_1107insA;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106_1107insA;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" 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target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106_1107insA;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106_1107insA;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106_1107insA;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106_1107insA;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000256999;SAVANT_GENE=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;SAVANT_INFO=-/62.0kb/19/2.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1106-100dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOLH1+c.1106-100dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49195127">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,9:10:16:295,16,0:16	1|1:1,12:13:35:405,35,0:16	1|0:24,5:29:99:108,0,968:16
11	49195129	.	G	A	7755.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=106;MQ=64.78;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs67031328;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67031328" target="_blank">rs67031328</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1106-101C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:NAALADase];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" 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target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" 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target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1106G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256999;SAVANT_GENE=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;SAVANT_INFO=-/62.0kb/19/2.6kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1106-101C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOLH1+c.1106-101C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49195129">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:72:941,72,0:71	1|1:0,43:43:99:1589,129,0:71	1|0:21,18:39:99:553,0,615:71
11	49208267	.	G	A	2363.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=515;MQ=65.82;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75940285;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75940285" target="_blank">rs75940285</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=23565;ExAC.Info.AN=126698;ExAC.Info.AF=0.186;ExAC.Info.AC_Het=21801;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.568G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg190Trp/c.568C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256999;SAVANT_GENE=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;SAVANT_INFO=-/62.0kb/19/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.568C>T_p.Arg190Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOLH1+c.568C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49208267">View</a>	GT:AD:DP:GQ:PL:TP	1|0:121,27:148:99:365,0,3480:36	0|0:174,19:193:36:0,36,5340:36	1|0:132,42:174:99:775,0,3830:36
11	49208298	.	A	G	9353.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=495;MQ=66.06;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs75655145;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75655145" target="_blank">rs75655145</a>;ExAC.Info.AC=336;ExAC.Info.AN=126686;ExAC.Info.AF=2.652e-03;ExAC.Info.AC_Het=331;ExAC.Info.AC_Hom=2;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.537A>G;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taT/taC;snpeff.Amino_Acid_Change=p.Tyr179Tyr/c.537T>C;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256999;SAVANT_GENE=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;SAVANT_INFO=-/62.0kb/19/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.537T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOLH1+c.537T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49208298">View</a>	GT:AD:DP:GQ:PL:TP	0|1:78,65:143:99:1568,0,1956:127	1|0:94,82:176:99:2306,0,2618:127	0|0:176,0:176:99:0,527,5673:127
11	49208319	.	G	A	1256.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=408;MQ=66.79;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs79155991;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79155991" target="_blank">rs79155991</a>;ExAC.Info.AC=3360;ExAC.Info.AN=126676;ExAC.Info.AF=0.027;ExAC.Info.AC_Het=2721;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggT;snpeff.Amino_Acid_Change=p.Gly172Gly/c.516C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.516C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256999;SAVANT_GENE=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;SAVANT_INFO=-/62.0kb/19/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.516C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOLH1+c.516C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49208319">View</a>	GT:AD:DP:GQ:PL:TP	1|0:98,14:112:99:130,0,2804:126	0|0:139,10:149:99:0,129,4650:126	1|0:118,29:147:99:524,0,3654:126
11	49208333	.	G	A	1496.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=348;MQ=66.88;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs74858499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74858499" target="_blank">rs74858499</a>;ExAC.Info.AC=7922;ExAC.Info.AN=126672;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=6707;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.514-12C>T;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.514G>A;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000256999;SAVANT_GENE=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;SAVANT_INFO=-/62.0kb/19/2.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.514-12C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOLH1+c.514-12C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49208333">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,12:92:99:144,0,2328:83	0|0:116,8:124:84:0,84,3777:83	1|0:104,28:132:99:620,0,3249:83
11	49229488	.	AAAAC	A	927.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=140;MQ=69.55;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=886;ExAC.Info.AN=15802;ExAC.Info.AF=0.056;ExAC.Info.AC_Het=768;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.118+352_118+355delGTTT;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.119_122delAAAC;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.119_122delAAAC;snpeff.Amino_Acid_length=750;snpeff.Gene_Name=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000256999;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000256999;SAVANT_GENE=FOLH1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=FOLH1" target="_blank">FOLH1</a>;SAVANT_INFO=-/62.0kb/19/2.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.118+352_118+355delGTTT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=FOLH1+c.118+352_118+355delGTTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49229488">View</a>	GT:AD:DP:GQ:PL:TP	0|0:41,0:41:99:0,122,2004:122	0|0:57,0:57:99:0,169,2782:122	0|1:24,18:42:99:487,0,1083:122
11	49329552	.	G	A	35045.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=485;MQ=62.03;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1164670;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1164670" target="_blank">rs1164670</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.369G>A;snpeff.Gene_Name=CTD-2026G22.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-2026G221" target="_blank">CTD-2026G221</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000529674;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTD-2026G221" target="_blank">CTD-2026G221</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTD-2026G221+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49329552">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,150:150:99:4834,451,0:127	1|1:0,186:186:99:6186,559,0:127	1|1:0,149:149:99:5032,448,0:127
11	49597799	.	C	T	23321.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=289;MQ=64.81;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7131345;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7131345" target="_blank">rs7131345</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.403C>T;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-707M11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49597799">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,91:91:99:2849,273,0:127	1|1:0,111:111:99:3815,334,0:127	1|1:0,87:87:99:2868,261,0:127
11	49598178	.	G	A	13443.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=327;MQ=69.07;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7101761;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7101761" target="_blank">rs7101761</a>;ExAC.Info.AC=93115;ExAC.Info.AN=126702;ExAC.Info.AF=0.735;ExAC.Info.AC_Het=24167;ExAC.Info.AC_Hom=34094;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.782G>A;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-707M11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49598178">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,39:93:99:1045,0,1714:127	1|1:0,129:129:99:4428,387,0:127	0|0:105,0:105:99:0,316,4037:127
11	49598207	.	T	C	20284.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=342;MQ=66.35;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs3750925;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3750925" target="_blank">rs3750925</a>;ExAC.Info.AC=67525;ExAC.Info.AN=126668;ExAC.Info.AF=0.533;ExAC.Info.AC_Het=29866;ExAC.Info.AC_Hom=18372;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.811T>C;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-707M11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49598207">View</a>	GT:AD:DP:GQ:PL:TP	0|1:56,37:93:99:1498,0,3169:127	1|1:0,146:146:99:6608,448,0:127	0|0:103,0:103:99:0,319,6651:127
11	49598209	.	T	C	20284.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=347;MQ=66.16;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs7939515;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7939515" target="_blank">rs7939515</a>;ExAC.Info.AC=112675;ExAC.Info.AN=126670;ExAC.Info.AF=0.890;ExAC.Info.AC_Het=12036;ExAC.Info.AC_Hom=49669;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.813T>C;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-707M11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49598209">View</a>	GT:AD:DP:GQ:PL:TP	0|1:57,41:98:99:1498,0,3169:127	1|1:0,146:146:99:6608,448,0:127	0|0:103,0:103:99:0,319,6651:127
11	49655814	.	T	C	317.17	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=253;MQ=67.77;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs144145381;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144145381" target="_blank">rs144145381</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1062+57356T>C;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-707M11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49655814">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,4:83:93:0,93,2426:64	0|1:0,5:5:0:184,15,0:64	0|0:165,0:165:99:0,495,5397:64
11	49729299	.	AC	A	16681.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=437;MQ=68.90;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs67084465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67084465" target="_blank">rs67084465</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1063-76075delC;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-707M11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49729299">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,60:114:99:1698,0,1463:127	1|1:3,176:179:99:5915,438,0:127	0|0:144,0:144:99:0,433,4819:127
11	49805668	.	T	A	3946.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=138;MQ=69.53;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs34269909;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34269909" target="_blank">rs34269909</a>;ExAC.Info.AC=14070;ExAC.Info.AN=126620;ExAC.Info.AF=0.111;ExAC.Info.AC_Het=12106;ExAC.Info.AC_Hom=904;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1312+44T>A;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-707M11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49805668">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,17:42:99:396,0,750:127	0|0:53,0:53:99:0,159,1948:127	1|1:0,43:43:99:1443,129,0:127
11	49813497	.	CTT	C	789.97	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=41;MQ=69.32;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1313-29_1313-28delTT;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-707M11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49813497">View</a>	GT:AD:DP:GQ:PL:TP	0/1:3,8:11:36:127,0,36:36	0/1:8,11:19:99:148,0,118:36	0/1:6,5:11:79:79,0,155:36
11	49813519	.	G	T	32.1	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=77;MQ=67.47;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;ExAC.Info.AC=3259;ExAC.Info.AN=13628;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=3200;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1313-8G>T;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.1313G>T;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-707M11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49813519">View</a>	GT:AD:DP:GQ:PL:TP	0|0:21,0:21:62:0,62,732:29	0|0:31,3:34:61:0,61,972:29	0|1:18,4:22:30:30,0,502:29
11	49813637	.	A	G	5669.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=68;MQ=61.73;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11530434;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11530434" target="_blank">rs11530434</a>;ExAC.Info.AC=11373;ExAC.Info.AN=14056;ExAC.Info.AF=0.809;ExAC.Info.AC_Het=1521;ExAC.Info.AC_Hom=3568;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1397+26A>G;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-707M11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49813637">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,23:23:69:921,69,0:62	1|1:0,24:24:72:949,72,0:62	1|1:0,21:21:63:820,63,0:62
11	49829193	.	AT	A	12911.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs35198519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35198519" target="_blank">rs35198519</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1398-13delT;snpeff.Gene_Name=RP11-707M1.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000527477;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-707M11" target="_blank">RP11-707M11</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-707M11+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49829193">View</a>	GT:AD:DP:GQ:PL:TP	0|1:82,62:144:99:1359,0,1936:127	1|1:0,147:147:99:4239,441,0:127	0|0:120,1:121:99:0,334,3456:127
11	49974371	.	G	A	35352.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=447;MQ=68.35;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28662375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28662375" target="_blank">rs28662375</a>;ExAC.Info.AC=126609;ExAC.Info.AN=126694;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=85;ExAC.Info.AC_Hom=63222;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4C13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C13" target="_blank">OR4C13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000555099;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.397G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4C13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C13" target="_blank">OR4C13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000555099;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtc/Atc;snpeff.Amino_Acid_Change=p.Val133Ile/c.397G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4C13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C13" target="_blank">OR4C13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000555099;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000555099;SAVANT_GENE=OR4C13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C13" target="_blank">OR4C13</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.397G>A_p.Val133Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C13+c.397G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:49974371">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:3980,372,0:127	1|1:0,182:182:99:6074,547,0:127	1|1:0,141:141:99:4796,424,0:127
11	50003191	.	C	A	13616.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=383;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4598671;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4598671" target="_blank">rs4598671</a>;ExAC.Info.AC=73499;ExAC.Info.AN=126698;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=29555;ExAC.Info.AC_Hom=21916;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.847C>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4C12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C12" target="_blank">OR4C12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335238;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ttg;snpeff.Amino_Acid_Change=p.Val283Leu/c.847G>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4C12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C12" target="_blank">OR4C12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335238;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335238;SAVANT_GENE=OR4C12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C12" target="_blank">OR4C12</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.847G>T_p.Val283Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C12+c.847G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:50003191">View</a>	GT:AD:DP:GQ:PL:TP	0|1:58,54:112:99:1408,0,1590:127	1|1:0,136:136:99:4744,409,0:127	0|0:135,0:135:99:0,406,4536:127
11	51411460	.	G	A	6173.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=170;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs34285763;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34285763" target="_blank">rs34285763</a>;ExAC.Info.AC=12417;ExAC.Info.AN=125774;ExAC.Info.AF=0.099;ExAC.Info.AC_Het=9230;ExAC.Info.AC_Hom=570;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.936G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A5" target="_blank">OR4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319760;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser312Ser/c.936C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A5" target="_blank">OR4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319760;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319760;SAVANT_GENE=OR4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A5" target="_blank">OR4A5</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.936C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4A5+c.936C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:51411460">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,22:49:99:692,0,728:127	0|0:62,0:62:99:0,186,2170:127	1|1:0,59:59:99:2152,177,0:127
11	51411740	.	A	T	13903.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=412;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35083184;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35083184" target="_blank">rs35083184</a>;ExAC.Info.AC=12453;ExAC.Info.AN=126674;ExAC.Info.AF=0.098;ExAC.Info.AC_Het=11048;ExAC.Info.AC_Hom=688;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.656A>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A5" target="_blank">OR4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319760;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTa/cAa;snpeff.Amino_Acid_Change=p.Leu219Gln/c.656T>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A5" target="_blank">OR4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000319760;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000319760;SAVANT_GENE=OR4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A5" target="_blank">OR4A5</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.656T>A_p.Leu219Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4A5+c.656T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:51411740">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,67:143:99:1868,0,2147:127	0|0:153,1:154:99:0,424,5189:127	1|1:0,115:115:99:4114,346,0:127
11	51516144	.	A	G	7799.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=278;MQ=66.10;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11246609;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11246609" target="_blank">rs11246609</a>;ExAC.Info.AC=88486;ExAC.Info.AN=126210;ExAC.Info.AF=0.701;ExAC.Info.AC_Het=23251;ExAC.Info.AC_Hom=29346;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.863A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4C46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C46" target="_blank">OR4C46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328188;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys288Arg/c.863A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4C46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C46" target="_blank">OR4C46</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000328188;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000328188;SAVANT_GENE=OR4C46;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C46" target="_blank">OR4C46</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.863A>G_p.Lys288Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C46+c.863A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:51516144">View</a>	GT:AD:DP:GQ:PL:TP	0|1:72,29:101:99:828,0,2186:127	1|1:0,69:69:99:2747,208,0:127	0|0:108,0:108:99:0,325,3721:127
11	51527482	.	C	T	7473.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=249;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs35049610;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35049610" target="_blank">rs35049610</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.319G>A;snpeff.Gene_Name=OR4C50P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C50P" target="_blank">OR4C50P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000330155;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C50P" target="_blank">OR4C50P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C50P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:51527482">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,39:90:99:937,0,1592:127	0|0:88,4:92:99:0,178,3146:127	1|1:0,67:67:99:2255,201,0:127
11	55035809	.	A	AT	5571.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=274;MQ=69.37;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11407154;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11407154" target="_blank">rs11407154</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.556-16_556-15insT;snpeff.Amino_Acid_length=224;snpeff.Gene_Name=TRIM48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM48" target="_blank">TRIM48</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000417545;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000417545;SAVANT_GENE=TRIM48;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIM48" target="_blank">TRIM48</a>;SAVANT_INFO=+/8.9kb/6/1.4kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.556-5dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TRIM48+c.556-5dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55035809">View</a>	GT:AD:DP:GQ:PL:TP	1|0:54,49:103:99:967,0,1114:127	0|0:105,0:105:99:0,314,2705:127	1|1:3,63:66:99:1535,136,0:127
11	55111584	.	A	T	2990.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10896659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10896659" target="_blank">rs10896659</a>;ExAC.Info.AC=60730;ExAC.Info.AN=126570;ExAC.Info.AF=0.480;ExAC.Info.AC_Het=30068;ExAC.Info.AC_Hom=15064;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.908A>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=OR4A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A16" target="_blank">OR4A16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314721;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aTg;snpeff.Amino_Acid_Change=p.Lys303Met/c.908A>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=OR4A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A16" target="_blank">OR4A16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314721;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314721;SAVANT_GENE=OR4A16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A16" target="_blank">OR4A16</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.908A>T_p.Lys303Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4A16+c.908A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55111584">View</a>	GT:AD:DP:GQ:PL:TP	0|1:17,9:26:99:263,0,501:127	1|0:30,27:57:99:778,0,852:127	0|0:53,0:53:99:0,159,1746:127
11	55135435	.	C	T	3282.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=190;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1425193;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1425193" target="_blank">rs1425193</a>;ExAC.Info.AC=34527;ExAC.Info.AN=126604;ExAC.Info.AF=0.273;ExAC.Info.AC_Het=23866;ExAC.Info.AC_Hom=5256;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.76C>T;snpeff.Amino_Acid_length=344;snpeff.Gene_Name=OR4A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A15" target="_blank">OR4A15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314706;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Tct;snpeff.Amino_Acid_Change=p.Pro26Ser/c.76C>T;snpeff.Amino_Acid_length=344;snpeff.Gene_Name=OR4A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A15" target="_blank">OR4A15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314706;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314706;SAVANT_GENE=OR4A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4A15" target="_blank">OR4A15</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.76C>T_p.Pro26Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4A15+c.76C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55135435">View</a>	GT:AD:DP:GQ:PL:TP	0|1:29,23:52:99:559,0,776:127	1|0:51,27:78:99:671,0,1509:127	0|0:60,0:60:99:0,180,2096:127
11	55322211	.	A	G	8876.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=320;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs9804659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9804659" target="_blank">rs9804659</a>;ExAC.Info.AC=35436;ExAC.Info.AN=126702;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=24583;ExAC.Info.AC_Hom=5413;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaA/aaG;snpeff.Amino_Acid_Change=p.Lys143Lys/c.429A>G;snpeff.Amino_Acid_length=370;snpeff.Gene_Name=OR4C15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C15" target="_blank">OR4C15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314644;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314644;SAVANT_GENE=OR4C15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C15" target="_blank">OR4C15</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.429A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C15+c.429A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55322211">View</a>	GT:AD:DP:GQ:PL:TP	0|1:45,55:100:99:1661,0,1249:127	1|0:60,66:126:99:2055,0,1780:127	0|0:94,0:94:99:0,283,3240:127
11	55322818	.	G	T	8354.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=387;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=D;dbSNP139.ID=rs72908448;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72908448" target="_blank">rs72908448</a>;ExAC.Info.AC=141;ExAC.Info.AN=126698;ExAC.Info.AF=1.113e-03;ExAC.Info.AC_Het=140;ExAC.Info.AC_Hom=0;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Gaa/Taa;snpeff.Amino_Acid_Change=p.Glu346*/c.1036G>T;snpeff.Amino_Acid_length=370;snpeff.Gene_Name=OR4C15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C15" target="_blank">OR4C15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314644;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314644;SAVANT_GENE=OR4C15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C15" target="_blank">OR4C15</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.1036G>T_p.Glu346X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C15+c.1036G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55322818">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,52:119:99:1262,0,2025:127	1|0:76,74:150:99:2094,0,2328:127	0|0:118,0:118:99:0,354,4309:127
11	55339652	.	C	T	12849.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=660;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs1459101;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1459101" target="_blank">rs1459101</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=23300193;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23300193" target="_blank">23300193</a>;ExAC.Info.AC=35385;ExAC.Info.AN=126692;ExAC.Info.AF=0.279;ExAC.Info.AC_Het=24550;ExAC.Info.AC_Hom=5387;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.49C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314634;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cag/Tag;snpeff.Amino_Acid_Change=p.Gln17*/c.49C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314634;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314634;SAVANT_GENE=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.49C>T_p.Gln17X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C16+c.49C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55339652">View</a>	GT:AD:DP:GQ:PL:TP	0|1:98,82:180:99:2162,0,3092:127	1|0:128,125:253:99:3405,0,4069:127	0|0:227,0:227:99:0,681,8168:127
11	55339798	.	C	T	18036.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=893;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs557667;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=557667" target="_blank">rs557667</a>;ExAC.Info.AC=35595;ExAC.Info.AN=126702;ExAC.Info.AF=0.281;ExAC.Info.AC_Het=24716;ExAC.Info.AC_Hom=5430;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.195C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314634;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser65Ser/c.195C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314634;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314634;SAVANT_GENE=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.195C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C16+c.195C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55339798">View</a>	GT:AD:DP:GQ:PL:TP	0|1:153,138:291:99:3848,0,4129:127	1|0:182,149:331:99:4191,0,5651:127	0|0:271,0:271:99:0,814,9656:127
11	55339829	.	A	G	57529.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=953;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs557590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=557590" target="_blank">rs557590</a>;ExAC.Info.AC=114312;ExAC.Info.AN=126702;ExAC.Info.AF=0.902;ExAC.Info.AC_Het=10562;ExAC.Info.AC_Hom=51850;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.226A>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314634;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Acc/Gcc;snpeff.Amino_Acid_Change=p.Thr76Ala/c.226A>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314634;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314634;SAVANT_GENE=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.226A>G_p.Thr76Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C16+c.226A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55339829">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,318:318:99:10756,954,0:127	1|0:187,158:345:99:4609,0,5197:127	1|1:0,290:290:99:10501,871,0:127
11	55340379	.	T	C	14991.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=639;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs559449;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=559449" target="_blank">rs559449</a>;ExAC.Info.AC=68173;ExAC.Info.AN=126688;ExAC.Info.AF=0.538;ExAC.Info.AC_Het=30539;ExAC.Info.AC_Hom=18784;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776T>C;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314634;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTt/cCt;snpeff.Amino_Acid_Change=p.Leu259Pro/c.776T>C;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314634;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314634;SAVANT_GENE=OR4C16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C16" target="_blank">OR4C16</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.776T>C_p.Leu259Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C16+c.776T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55340379">View</a>	GT:AD:DP:GQ:PL:TP	0|1:93,115:208:99:3201,0,2383:127	1|0:145,127:272:99:3633,0,4099:127	0|0:159,0:159:99:0,477,5598:127
11	55433040	.	T	C	4313.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=209;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11230600;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11230600" target="_blank">rs11230600</a>;ExAC.Info.AC=35413;ExAC.Info.AN=126692;ExAC.Info.AF=0.280;ExAC.Info.AC_Het=24566;ExAC.Info.AC_Hom=5406;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.398T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4C6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C6" target="_blank">OR4C6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314259;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.398T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4C6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C6" target="_blank">OR4C6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314259;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile133Thr/c.398T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR4C6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C6" target="_blank">OR4C6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000314259;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000314259;SAVANT_GENE=OR4C6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4C6" target="_blank">OR4C6</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.398T>C_p.Ile133Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4C6+c.398T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55433040">View</a>	GT:AD:DP:GQ:PL:TP	0|1:31,35:66:99:1101,0,870:127	1|0:46,34:80:99:991,0,1321:127	0|0:63,0:63:99:0,189,2248:127
11	55541098	.	G	A	35282.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=447;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs297118;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=297118" target="_blank">rs297118</a>;ExAC.Info.AC=125662;ExAC.Info.AN=126678;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=920;ExAC.Info.AC_Hom=62298;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.185G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5D13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D13" target="_blank">OR5D13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361760;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tAc;snpeff.Amino_Acid_Change=p.Cys62Tyr/c.185G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5D13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D13" target="_blank">OR5D13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000361760;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000361760;SAVANT_GENE=OR5D13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D13" target="_blank">OR5D13</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.185G>A_p.Cys62Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5D13+c.185G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55541098">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,146:146:99:4857,439,0:127	1|1:0,169:169:99:5835,508,0:127	1|1:0,132:132:99:4607,396,0:127
11	55563602	.	G	A	20220.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=608;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs68042892;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=68042892" target="_blank">rs68042892</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=10244;ExAC.Info.AN=126700;ExAC.Info.AF=0.081;ExAC.Info.AC_Het=9239;ExAC.Info.AC_Hom=501;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335605;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ggc/Agc;snpeff.Amino_Acid_Change=p.Gly191Ser/c.571G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335605;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335605;SAVANT_GENE=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.571G>A_p.Gly191Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5D14+c.571G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55563602">View</a>	GT:AD:DP:GQ:PL:TP	1|0:95,85:180:99:2159,0,2825:127	0|0:232,0:232:99:0,697,8469:127	1|1:0,196:196:99:6548,589,0:127
11	55563738	.	G	A	15859.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=479;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs67863827;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67863827" target="_blank">rs67863827</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=9821;ExAC.Info.AN=126700;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8943;ExAC.Info.AC_Hom=437;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.707G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335605;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGc/cAc;snpeff.Amino_Acid_Change=p.Arg236His/c.707G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335605;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335605;SAVANT_GENE=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.707G>A_p.Arg236His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5D14+c.707G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55563738">View</a>	GT:AD:DP:GQ:PL:TP	1|0:64,86:150:99:2477,0,1809:127	0|0:195,0:195:99:0,585,6993:127	1|1:0,134:134:99:4813,402,0:127
11	55563776	.	T	G	43289.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=514;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs297054;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=297054" target="_blank">rs297054</a>;ExAC.Info.AC=125690;ExAC.Info.AN=126696;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=911;ExAC.Info.AC_Hom=62351;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.745T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335605;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Gct;snpeff.Amino_Acid_Change=p.Ser249Ala/c.745T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335605;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335605;SAVANT_GENE=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.745T>G_p.Ser249Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5D14+c.745T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55563776">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,163:163:99:6198,493,0:127	1|1:0,219:219:99:8021,658,0:127	1|1:0,132:132:99:4933,396,0:127
11	55563900	.	T	C	5990.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=562;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs297055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=297055" target="_blank">rs297055</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=29409;ExAC.Info.AN=126692;ExAC.Info.AF=0.232;ExAC.Info.AC_Het=22001;ExAC.Info.AC_Hom=3676;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.869T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335605;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTg/cCg;snpeff.Amino_Acid_Change=p.Leu290Pro/c.869T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335605;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335605;SAVANT_GENE=OR5D14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D14" target="_blank">OR5D14</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.869T>C_p.Leu290Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5D14+c.869T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55563900">View</a>	GT:AD:DP:GQ:PL:TP	0|0:191,0:191:99:0,574,6551:127	0|1:98,108:206:99:3014,0,2852:127	0|0:165,0:165:99:0,496,5576:127
11	55578987	.	T	C	19802.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=415;MQ=67.57;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs67727364;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67727364" target="_blank">rs67727364</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=10188;ExAC.Info.AN=126676;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=9285;ExAC.Info.AC_Hom=436;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.45T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333973;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctT/ctC;snpeff.Amino_Acid_Change=p.Leu15Leu/c.45T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333973;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333973;SAVANT_GENE=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.45T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5L1+c.45T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55578987">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,59:121:99:2333,0,2582:127	0|0:150,0:150:99:0,467,6897:127	1|1:2,142:144:99:6398,352,0:127
11	55578991	.	C	T	19953.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=433;MQ=67.55;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs66537410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66537410" target="_blank">rs66537410</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=10191;ExAC.Info.AN=126678;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=9282;ExAC.Info.AC_Hom=440;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.49C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333973;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cta/Tta;snpeff.Amino_Acid_Change=p.Leu17Leu/c.49C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333973;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333973;SAVANT_GENE=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.49C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5L1+c.49C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55578991">View</a>	GT:AD:DP:GQ:PL:TP	1|0:66,63:129:99:2441,0,2573:127	0|0:160,0:160:99:0,488,7110:127	1|1:2,142:144:99:6398,352,0:127
11	55579102	.	C	T	19670.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=635;MQ=69.33;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34961497;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34961497" target="_blank">rs34961497</a>;ExAC.Info.AC=9690;ExAC.Info.AN=126702;ExAC.Info.AF=0.076;ExAC.Info.AC_Het=9084;ExAC.Info.AC_Hom=285;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.160C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333973;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg54Trp/c.160C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333973;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333973;SAVANT_GENE=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.160C>T_p.Arg54Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5L1+c.160C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55579102">View</a>	GT:AD:DP:GQ:PL:TP	1|0:103,92:195:99:2609,0,2890:127	0|0:237,0:237:99:0,712,7877:127	1|1:7,196:203:99:6631,372,0:127
11	55579419	.	T	C	17538.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=471;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs34948392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34948392" target="_blank">rs34948392</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=10247;ExAC.Info.AN=126702;ExAC.Info.AF=0.081;ExAC.Info.AC_Het=9241;ExAC.Info.AC_Hom=503;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333973;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.477T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333973;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caT/caC;snpeff.Amino_Acid_Change=p.His159His/c.477T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333973;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333973;SAVANT_GENE=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.477T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5L1+c.477T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55579419">View</a>	GT:AD:DP:GQ:PL:TP	1|0:81,70:151:99:2047,0,2237:127	0|0:185,1:186:99:0,515,6069:127	1|1:0,134:134:99:4973,403,0:127
11	55579801	.	T	C	21264.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=631;MQ=69.96;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12790505;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12790505" target="_blank">rs12790505</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=10244;ExAC.Info.AN=126694;ExAC.Info.AF=0.081;ExAC.Info.AC_Het=9233;ExAC.Info.AC_Hom=498;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.859T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333973;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tct/Cct;snpeff.Amino_Acid_Change=p.Ser287Pro/c.859T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333973;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333973;SAVANT_GENE=OR5L1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L1" target="_blank">OR5L1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.859T>C_p.Ser287Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5L1+c.859T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55579801">View</a>	GT:AD:DP:GQ:PL:TP	1|0:103,108:211:99:2985,0,2669:127	0|0:231,0:231:99:0,693,7643:127	1|1:0,189:189:99:6263,567,0:127
11	55587117	.	T	A	15885.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs297082;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=297082" target="_blank">rs297082</a>;ExAC.Info.AC=126498;ExAC.Info.AN=126636;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=134;ExAC.Info.AC_Hom=62215;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.12T>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR5D18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D18" target="_blank">OR5D18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333976;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acA;snpeff.Amino_Acid_Change=p.Thr4Thr/c.12T>A;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR5D18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D18" target="_blank">OR5D18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333976;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333976;SAVANT_GENE=OR5D18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D18" target="_blank">OR5D18</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.12T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5D18+c.12T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55587117">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1676,132,0:127	1|1:0,84:84:99:3242,253,0:127	1|1:0,48:48:99:1888,144,0:127
11	55587511	.	A	G	39979.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=484;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs297081;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=297081" target="_blank">rs297081</a>;ExAC.Info.AC=126562;ExAC.Info.AN=126698;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=134;ExAC.Info.AC_Hom=63193;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR5D18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D18" target="_blank">OR5D18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333976;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.406A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR5D18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D18" target="_blank">OR5D18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333976;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn136Asp/c.406A>G;snpeff.Amino_Acid_length=313;snpeff.Gene_Name=OR5D18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D18" target="_blank">OR5D18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000333976;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000333976;SAVANT_GENE=OR5D18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D18" target="_blank">OR5D18</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.406A>G_p.Asn136Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5D18+c.406A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55587511">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,149:149:99:5189,448,0:127	1|1:0,190:190:99:6710,570,0:127	1|1:0,145:145:99:5281,435,0:127
11	55594869	.	G	A	19359.3	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=624;MQ=66.53;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56711116;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56711116" target="_blank">rs56711116</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=10309;ExAC.Info.AN=126702;ExAC.Info.AF=0.081;ExAC.Info.AC_Het=9284;ExAC.Info.AC_Hom=512;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.175G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val59Met/c.175G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378397;SAVANT_GENE=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.175G>A_p.Val59Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5L2+c.175G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55594869">View</a>	GT:AD:DP:GQ:PL:TP	1|0:111,79:190:99:1973,0,3111:127	0|0:245,2:247:99:0,670,8497:127	1|1:0,187:187:99:6255,562,0:127
11	55595081	.	C	T	4692.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=388;MQ=69.60;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7102394;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7102394" target="_blank">rs7102394</a>;ExAC.Info.AC=14354;ExAC.Info.AN=126698;ExAC.Info.AF=0.113;ExAC.Info.AC_Het=12061;ExAC.Info.AC_Hom=1142;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.387C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro129Pro/c.387C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378397;SAVANT_GENE=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.387C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5L2+c.387C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55595081">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,0:112:99:0,337,3838:127	0|1:74,85:159:99:2365,0,2036:127	0|0:117,0:117:99:0,352,4236:127
11	55595114	.	G	T	20129.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=437;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs34929168;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34929168" target="_blank">rs34929168</a>;ExAC.Info.AC=9794;ExAC.Info.AN=126696;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=9003;ExAC.Info.AC_Hom=390;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420G>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.420G>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctT;snpeff.Amino_Acid_Change=p.Leu140Leu/c.420G>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378397;SAVANT_GENE=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.420G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5L2+c.420G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55595114">View</a>	GT:AD:DP:GQ:PL:TP	1|0:77,56:133:99:2111,0,3126:127	0|0:164,1:165:99:0,458,7400:127	1|1:0,139:139:99:6408,430,0:127
11	55595115	.	C	T	20129.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=438;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs71490506;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71490506" target="_blank">rs71490506</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=9801;ExAC.Info.AN=126696;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=9003;ExAC.Info.AC_Hom=393;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgt/Tgt;snpeff.Amino_Acid_Change=p.Arg141Cys/c.421C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378397;SAVANT_GENE=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.421C>T_p.Arg141Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5L2+c.421C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55595115">View</a>	GT:AD:DP:GQ:PL:TP	1|0:76,56:132:99:2111,0,3126:127	0|0:164,1:165:99:0,458,7400:127	1|1:0,141:141:99:6408,430,0:127
11	55595116	.	G	C	20129.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=442;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75822385;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75822385" target="_blank">rs75822385</a>;ExAC.Info.AC=9795;ExAC.Info.AN=126696;ExAC.Info.AF=0.077;ExAC.Info.AC_Het=9597;ExAC.Info.AC_Hom=2;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.422G>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.422G>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGt/cCt;snpeff.Amino_Acid_Change=p.Arg141Pro/c.422G>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378397;SAVANT_GENE=OR5L2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5L2" target="_blank">OR5L2</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.422G>C_p.Arg141Pro;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5L2+c.422G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55595116">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,54:133:99:2111,0,3126:127	0|0:165,1:166:99:0,458,7400:127	1|1:0,143:143:99:6408,430,0:127
11	55606302	.	G	T	11299.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=322;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs6591699;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6591699" target="_blank">rs6591699</a>;ExAC.Info.AC=83126;ExAC.Info.AN=126692;ExAC.Info.AF=0.656;ExAC.Info.AC_Het=28028;ExAC.Info.AC_Hom=27514;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.75G>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=OR5D16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D16" target="_blank">OR5D16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378396;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctT;snpeff.Amino_Acid_Change=p.Leu25Leu/c.75G>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=OR5D16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D16" target="_blank">OR5D16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378396;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378396;SAVANT_GENE=OR5D16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D16" target="_blank">OR5D16</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.75G>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5D16+c.75G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55606302">View</a>	GT:AD:DP:GQ:PL:TP	0|1:49,51:100:99:1334,0,1576:127	1|1:0,108:108:99:3763,325,0:127	0|0:114,0:114:99:0,343,4085:127
11	55606693	.	G	A	5122.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=403;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6591700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6591700" target="_blank">rs6591700</a>;ExAC.Info.AC=14453;ExAC.Info.AN=126688;ExAC.Info.AF=0.114;ExAC.Info.AC_Het=12209;ExAC.Info.AC_Hom=1145;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.466G>A;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=OR5D16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D16" target="_blank">OR5D16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378396;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala156Thr/c.466G>A;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=OR5D16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D16" target="_blank">OR5D16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378396;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378396;SAVANT_GENE=OR5D16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D16" target="_blank">OR5D16</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.466G>A_p.Ala156Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5D16+c.466G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55606693">View</a>	GT:AD:DP:GQ:PL:TP	0|0:124,0:124:99:0,373,4526:127	0|1:75,86:161:99:2580,0,2181:127	0|0:117,1:118:99:0,320,4277:127
11	55606818	.	C	T	15285.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=916;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11231253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11231253" target="_blank">rs11231253</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=53609;ExAC.Info.AN=126676;ExAC.Info.AF=0.423;ExAC.Info.AC_Het=29210;ExAC.Info.AC_Hom=12166;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591C>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=OR5D16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D16" target="_blank">OR5D16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378396;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser197Ser/c.591C>T;snpeff.Amino_Acid_length=328;snpeff.Gene_Name=OR5D16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D16" target="_blank">OR5D16</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378396;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378396;SAVANT_GENE=OR5D16;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5D16" target="_blank">OR5D16</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.591C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5D16+c.591C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55606818">View</a>	GT:AD:DP:GQ:PL:TP	0|1:149,133:282:99:3303,0,4266:127	1|0:182,152:334:99:3737,0,5230:127	0|0:300,0:300:99:0,901,10308:127
11	55681130	.	A	T	3715.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=140;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34573569;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34573569" target="_blank">rs34573569</a>;ExAC.Info.AC=9343;ExAC.Info.AN=125966;ExAC.Info.AF=0.074;ExAC.Info.AC_Het=7956;ExAC.Info.AC_Hom=343;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.929A>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344514;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tAt;snpeff.Amino_Acid_Change=p.Phe310Tyr/c.929T>A;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344514;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344514;SAVANT_GENE=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.929T>A_p.Phe310Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5W2+c.929T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55681130">View</a>	GT:AD:DP:GQ:PL:TP	1|0:16,17:33:99:525,0,483:114	0|0:69,0:69:99:0,207,2455:114	1|1:0,38:38:99:1341,114,0:114
11	55681336	.	G	A	4297.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=427;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs11231529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11231529" target="_blank">rs11231529</a>;ExAC.Info.AC=38459;ExAC.Info.AN=126698;ExAC.Info.AF=0.304;ExAC.Info.AC_Het=25875;ExAC.Info.AC_Hom=6262;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.723G>A;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344514;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tgC/tgT;snpeff.Amino_Acid_Change=p.Cys241Cys/c.723C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344514;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344514;SAVANT_GENE=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.723C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5W2+c.723C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55681336">View</a>	GT:AD:DP:GQ:PL:TP	0|0:128,0:128:99:0,385,4486:127	0|1:90,80:170:99:2167,0,2708:127	0|0:129,0:129:99:0,388,4644:127
11	55681494	.	G	A	33464.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=419;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2457239;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2457239" target="_blank">rs2457239</a>;ExAC.Info.AC=126665;ExAC.Info.AN=126690;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=25;ExAC.Info.AC_Hom=63128;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.565G>A;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344514;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg189Cys/c.565C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344514;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344514;SAVANT_GENE=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.565C>T_p.Arg189Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5W2+c.565C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55681494">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,133:133:99:4487,400,0:127	1|1:0,156:156:99:5333,469,0:127	1|1:0,130:130:99:4647,390,0:127
11	55681566	.	G	A	13928.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=446;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61749302;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61749302" target="_blank">rs61749302</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=9987;ExAC.Info.AN=126698;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=9074;ExAC.Info.AC_Hom=442;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493G>A;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344514;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg165Cys/c.493C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000344514;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344514;SAVANT_GENE=OR5W2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5W2" target="_blank">OR5W2</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.493C>T_p.Arg165Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5W2+c.493C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55681566">View</a>	GT:AD:DP:GQ:PL:TP	1|0:73,71:144:99:2080,0,2096:127	0|0:184,0:184:99:0,552,6264:127	1|1:2,116:118:99:3876,305,0:127
11	55702929	.	A	G	2121.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs34603986;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34603986" target="_blank">rs34603986</a>;ExAC.Info.AC=9635;ExAC.Info.AN=126320;ExAC.Info.AF=0.076;ExAC.Info.AC_Het=8395;ExAC.Info.AC_Hom=397;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34603986" target="_blank">rs34603986</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55702929">View</a>	GT:AD:DP:GQ:PL:TP	1|0:8,6:14:99:202,0,252:65	0|0:26,0:26:78:0,78,880:65	1|1:0,22:22:66:824,66,0:65
11	55703247	.	G	A	11463.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=377;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs4465383;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4465383" target="_blank">rs4465383</a>;ExAC.Info.AC=19115;ExAC.Info.AN=126460;ExAC.Info.AF=0.151;ExAC.Info.AC_Het=15334;ExAC.Info.AC_Hom=1552;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.630G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5I1" target="_blank">OR5I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301532;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile210Ile/c.630C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5I1" target="_blank">OR5I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301532;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000301532;SAVANT_GENE=OR5I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5I1" target="_blank">OR5I1</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.630C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5I1+c.630C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55703247">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,56:123:99:1399,0,1967:127	0|0:142,0:142:99:0,427,5139:127	1|1:0,112:112:99:3881,337,0:127
11	55703728	.	A	G	23004.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=630;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4367963;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4367963" target="_blank">rs4367963</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=9833;ExAC.Info.AN=126654;ExAC.Info.AF=0.078;ExAC.Info.AC_Het=8941;ExAC.Info.AC_Hom=431;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.149A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5I1" target="_blank">OR5I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301532;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTg/tCg;snpeff.Amino_Acid_Change=p.Leu50Ser/c.149T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5I1" target="_blank">OR5I1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301532;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000301532;SAVANT_GENE=OR5I1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5I1" target="_blank">OR5I1</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.149T>C_p.Leu50Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5I1+c.149T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55703728">View</a>	GT:AD:DP:GQ:PL:TP	1|0:93,88:181:99:2504,0,2595:127	0|0:230,0:230:99:0,691,8126:127	1|1:0,219:219:99:7738,658,0:127
11	55746891	.	G	A	16299.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=210;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7481466;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7481466" target="_blank">rs7481466</a>;ExAC.Info.AC=45488;ExAC.Info.AN=46062;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=176;ExAC.Info.AC_Hom=11485;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1121C>T;snpeff.Gene_Name=OR7E5P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR7E5P" target="_blank">OR7E5P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000399170;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR7E5P" target="_blank">OR7E5P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR7E5P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55746891">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,69:69:99:2280,207,0:127	1|1:0,85:85:99:3060,255,0:127	1|1:0,56:56:99:2031,168,0:127
11	55761251	.	A	G	1096.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=228;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs66470326;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=66470326" target="_blank">rs66470326</a>;ExAC.Info.AC=2956;ExAC.Info.AN=126704;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2845;ExAC.Info.AC_Hom=55;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.851A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F1" target="_blank">OR5F1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met284Thr/c.851T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F1" target="_blank">OR5F1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278409;SAVANT_GENE=OR5F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F1" target="_blank">OR5F1</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.851T>C_p.Met284Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5F1+c.851T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55761251">View</a>	GT:AD:DP:GQ:PL:TP	0|0:65,0:65:99:0,195,1977:127	0|0:99,0:99:99:0,297,3251:127	0|1:41,23:64:99:567,0,1198:127
11	55761528	.	T	C	11604.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=386;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35607186;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35607186" target="_blank">rs35607186</a>;ExAC.Info.AC=9951;ExAC.Info.AN=126704;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=9054;ExAC.Info.AC_Hom=447;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.574T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F1" target="_blank">OR5F1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aca/Gca;snpeff.Amino_Acid_Change=p.Thr192Ala/c.574A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F1" target="_blank">OR5F1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278409;SAVANT_GENE=OR5F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F1" target="_blank">OR5F1</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.574A>G_p.Thr192Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5F1+c.574A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55761528">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,64:131:99:1830,0,1890:127	0|0:167,0:167:99:0,501,5292:127	1|1:0,88:88:99:2975,264,0:127
11	55761738	.	T	G	13800.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=154;MQ=69.21;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2128152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2128152" target="_blank">rs2128152</a>;ExAC.Info.AC=126618;ExAC.Info.AN=126692;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=73;ExAC.Info.AC_Hom=63217;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F1" target="_blank">OR5F1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364T>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F1" target="_blank">OR5F1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Agg/Cgg;snpeff.Amino_Acid_Change=p.Arg122Arg/c.364A>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F1" target="_blank">OR5F1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278409;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278409;SAVANT_GENE=OR5F1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F1" target="_blank">OR5F1</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.364A>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5F1+c.364A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55761738">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,45:45:99:1667,135,0:127	1|1:0,57:57:99:2166,171,0:127	1|1:0,52:52:99:1897,156,0:127
11	55762167	.	CAA	C	2472.89	PASS	InheritancePattern=unknown;AC=3;AF=1.00;AN=3;DP=41;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=1/1;NA12891_GT=./.;dbSNP139.ID=rs71055561;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71055561" target="_blank">rs71055561</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=71055561" target="_blank">rs71055561</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55762167">View</a>	GT:AD:DP:GQ:PL	./1:0,6:11:96:289,111,96	./.:0,1:12:13:288,261,283	1/1:0,17:18:26:541,50,0
11	55762167	.	CAA	CA	2472.89	PASS	InheritancePattern=unknown;AC=3;AF=1.00;AN=3;DP=41;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=./1;NA12892_GT=./.;NA12891_GT=1/1;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=.;SAVANT_GENE=.;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55762167">View</a>	GT:AD:DP:GQ:PL	./1:0,5:11:96:289,139,108	1/1:0,11:12:13:288,36,0	./.:0,1:18:26:541,407,363
11	55783155	.	A	G	8276.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=247;MQ=69.40;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs34107711;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34107711" target="_blank">rs34107711</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.279T>C;snpeff.Gene_Name=OR5F2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F2P" target="_blank">OR5F2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532761;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5F2P" target="_blank">OR5F2P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5F2P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55783155">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,37:65:99:1239,0,836:127	0|0:118,1:119:99:0,319,4230:127	1|1:0,63:63:99:2272,189,0:127
11	55798152	.	G	A	61177.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=836;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1482011;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1482011" target="_blank">rs1482011</a>;ExAC.Info.AC=125589;ExAC.Info.AN=126570;ExAC.Info.AF=0.992;ExAC.Info.AC_Het=878;ExAC.Info.AC_Hom=60697;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.258G>A;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AS1" target="_blank">OR5AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313555;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttG/ttA;snpeff.Amino_Acid_Change=p.Leu86Leu/c.258G>A;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AS1" target="_blank">OR5AS1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313555;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313555;SAVANT_GENE=OR5AS1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AS1" target="_blank">OR5AS1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.258G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5AS1+c.258G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55798152">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,242:242:99:7956,727,0:127	1|1:0,333:333:99:11243,1001,0:127	1|1:0,261:261:99:8723,783,0:127
11	55860780	.	G	A	54796.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=750;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1842700;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1842700" target="_blank">rs1842700</a>;ExAC.Info.AC=125043;ExAC.Info.AN=125816;ExAC.Info.AF=0.994;ExAC.Info.AC_Het=697;ExAC.Info.AC_Hom=57639;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=4;snpeff.Amino_Acid_Change=c.-4G>A;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR8I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8I2" target="_blank">OR8I2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302124;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302124;SAVANT_GENE=OR8I2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8I2" target="_blank">OR8I2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-4G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8I2+c.-4G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55860780">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,250:250:99:7806,751,0:127	1|1:0,275:275:99:8881,826,0:127	1|1:0,225:225:99:7298,676,0:127
11	55872657	.	A	C	14279.3	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=506;MQ=66.05;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs28681529;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28681529" target="_blank">rs28681529</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=24731;ExAC.Info.AN=126704;ExAC.Info.AF=0.195;ExAC.Info.AC_Het=19621;ExAC.Info.AC_Hom=2545;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.139A>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313503;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Cta;snpeff.Amino_Acid_Change=p.Ile47Leu/c.139A>C;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313503;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313503;SAVANT_GENE=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.139A>C_p.Ile47Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8H2+c.139A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55872657">View</a>	GT:AD:DP:GQ:PL:TP	1|0:72,63:135:99:1927,0,1998:127	0|0:251,0:251:99:0,754,8792:127	1|1:0,120:120:99:4614,361,0:127
11	55872876	.	C	T	40724.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=498;MQ=67.81;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2512961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2512961" target="_blank">rs2512961</a>;ExAC.Info.AC=118231;ExAC.Info.AN=126704;ExAC.Info.AF=0.933;ExAC.Info.AC_Het=7721;ExAC.Info.AC_Hom=55242;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313503;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313503;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cat/Tat;snpeff.Amino_Acid_Change=p.His120Tyr/c.358C>T;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313503;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313503;SAVANT_GENE=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.358C>T_p.His120Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8H2+c.358C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55872876">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,158:158:99:5371,475,0:127	1|1:0,202:202:99:7084,607,0:127	1|1:0,138:138:99:5068,415,0:127
11	55873024	.	A	G	79090.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=1039;MQ=69.92;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2449148;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2449148" target="_blank">rs2449148</a>;ExAC.Info.AC=126632;ExAC.Info.AN=126702;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=70;ExAC.Info.AC_Hom=63273;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313503;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.506A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313503;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAc/tGc;snpeff.Amino_Acid_Change=p.Tyr169Cys/c.506A>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313503;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313503;SAVANT_GENE=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.506A>G_p.Tyr169Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8H2+c.506A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55873024">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,312:312:99:10750,937,0:127	1|1:0,387:387:99:13817,1162,0:127	1|1:0,340:340:99:11680,1021,0:127
11	55873368	.	G	A	32513.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=431;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1842696;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1842696" target="_blank">rs1842696</a>;ExAC.Info.AC=126596;ExAC.Info.AN=126666;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=70;ExAC.Info.AC_Hom=63099;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.850G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313503;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val284Met/c.850G>A;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313503;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313503;SAVANT_GENE=OR8H2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H2" target="_blank">OR8H2</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.850G>A_p.Val284Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8H2+c.850G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55873368">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,134:134:99:4412,403,0:127	1|1:0,179:179:99:6180,538,0:127	1|1:0,118:118:99:4041,355,0:127
11	55873475	.	C	T	5785.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=278;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs2170447;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2170447" target="_blank">rs2170447</a>;ExAC.Info.AC=33243;ExAC.Info.AN=126202;ExAC.Info.AF=0.263;ExAC.Info.AC_Het=22119;ExAC.Info.AC_Hom=4761;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2170447" target="_blank">rs2170447</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:55873475">View</a>	GT:AD:DP:GQ:PL:TP	0|1:41,52:93:99:1436,0,1264:127	1|0:61,53:114:99:1596,0,1750:127	0|0:71,0:71:99:0,213,2642:127
11	56000066	.	G	A	17463.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=861;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs62621278;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62621278" target="_blank">rs62621278</a>;ExAC.Info.AC=5141;ExAC.Info.AN=126704;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4862;ExAC.Info.AC_Hom=139;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.596G>A;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=OR5T2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T2" target="_blank">OR5T2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313264;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCa/aTa;snpeff.Amino_Acid_Change=p.Thr199Ile/c.596C>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=OR5T2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T2" target="_blank">OR5T2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313264;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313264;SAVANT_GENE=OR5T2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T2" target="_blank">OR5T2</a>;SAVANT_INFO=-/1.2kb/1/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.596C>T_p.Thr199Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5T2+c.596C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56000066">View</a>	GT:AD:DP:GQ:PL:TP	0|1:129,133:262:99:3493,0,3816:127	1|0:131,147:278:99:4054,0,3866:127	0|0:321,0:321:99:0,965,11352:127
11	56000403	.	C	G	39754.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=581;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10791893;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10791893" target="_blank">rs10791893</a>;ExAC.Info.AC=114075;ExAC.Info.AN=126670;ExAC.Info.AF=0.901;ExAC.Info.AC_Het=10878;ExAC.Info.AC_Hom=51255;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.259C>G;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=OR5T2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T2" target="_blank">OR5T2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313264;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Ctg;snpeff.Amino_Acid_Change=p.Val87Leu/c.259G>C;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=OR5T2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T2" target="_blank">OR5T2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313264;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313264;SAVANT_GENE=OR5T2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T2" target="_blank">OR5T2</a>;SAVANT_INFO=-/1.2kb/1/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.259G>C_p.Val87Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5T2+c.259G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56000403">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,154:154:99:5704,420,0:127	1|0:112,119:231:99:3452,0,3493:127	1|1:0,196:196:99:6920,589,0:127
11	56000600	.	G	T	10719.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=480;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3919907;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3919907" target="_blank">rs3919907</a>;ExAC.Info.AC=30424;ExAC.Info.AN=126628;ExAC.Info.AF=0.240;ExAC.Info.AC_Het=21602;ExAC.Info.AC_Hom=4201;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.62G>T;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=OR5T2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T2" target="_blank">OR5T2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313264;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCt/tAt;snpeff.Amino_Acid_Change=p.Ser21Tyr/c.62C>A;snpeff.Amino_Acid_length=359;snpeff.Gene_Name=OR5T2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T2" target="_blank">OR5T2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313264;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313264;SAVANT_GENE=OR5T2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T2" target="_blank">OR5T2</a>;SAVANT_INFO=-/1.2kb/1/1.2kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.62C>A_p.Ser21Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5T2+c.62C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56000600">View</a>	GT:AD:DP:GQ:PL:TP	0|1:74,69:143:99:1865,0,2238:127	1|0:88,98:186:99:2684,0,2524:127	0|0:151,0:151:99:0,454,5474:127
11	56015479	.	A	G	8095.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=111;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs1531757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1531757" target="_blank">rs1531757</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1531757" target="_blank">rs1531757</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56015479">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,31:31:93:1222,93,0:92	1|0:18,22:40:99:687,0,482:92	1|1:0,40:40:99:1502,120,0:92
11	56043604	.	A	G	23655.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=887;MQ=67.16;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12360890;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12360890" target="_blank">rs12360890</a>;ExAC.Info.AC=54659;ExAC.Info.AN=126702;ExAC.Info.AF=0.431;ExAC.Info.AC_Het=28717;ExAC.Info.AC_Hom=12961;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.490A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR5T1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T1" target="_blank">OR5T1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313033;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agc/Ggc;snpeff.Amino_Acid_Change=p.Ser164Gly/c.490A>G;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR5T1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T1" target="_blank">OR5T1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313033;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313033;SAVANT_GENE=OR5T1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T1" target="_blank">OR5T1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.490A>G_p.Ser164Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5T1+c.490A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56043604">View</a>	GT:AD:DP:GQ:PL:TP	0|1:138,150:288:99:4489,0,3687:127	1|0:149,204:353:99:6088,0,4050:127	0|0:246,0:246:99:0,739,8375:127
11	56043702	.	G	C	63848.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=1010;MQ=69.32;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7125697;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7125697" target="_blank">rs7125697</a>;ExAC.Info.AC=90311;ExAC.Info.AN=126694;ExAC.Info.AF=0.713;ExAC.Info.AC_Het=25190;ExAC.Info.AC_Hom=32546;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.588G>C;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR5T1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T1" target="_blank">OR5T1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313033;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu196Leu/c.588G>C;snpeff.Amino_Acid_length=326;snpeff.Gene_Name=OR5T1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T1" target="_blank">OR5T1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313033;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313033;SAVANT_GENE=OR5T1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5T1" target="_blank">OR5T1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.588G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5T1+c.588G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56043702">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,306:306:99:11267,920,0:127	1|0:179,192:371:99:6062,0,5384:127	1|1:0,333:333:99:11942,1001,0:127
11	56058197	.	G	A	14797.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=630;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs1842674;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1842674" target="_blank">rs1842674</a>;ExAC.Info.AC=53512;ExAC.Info.AN=126702;ExAC.Info.AF=0.422;ExAC.Info.AC_Het=29153;ExAC.Info.AC_Hom=12172;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.342G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR8H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H1" target="_blank">OR8H1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313022;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.342G>A;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR8H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H1" target="_blank">OR8H1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313022;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctT;snpeff.Amino_Acid_Change=p.Leu114Leu/c.342C>T;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR8H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H1" target="_blank">OR8H1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313022;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313022;SAVANT_GENE=OR8H1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8H1" target="_blank">OR8H1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.342C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8H1+c.342C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56058197">View</a>	GT:AD:DP:GQ:PL:TP	0|1:103,99:202:99:2645,0,3158:127	1|0:130,111:241:99:3258,0,4208:127	0|0:187,0:187:99:0,562,7142:127
11	56086147	.	T	G	34421.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=589;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs960193;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=960193" target="_blank">rs960193</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Olfactory_receptor_deficiency;hgmd_2014.2.PubMed=12730696;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12730696" target="_blank">12730696</a>;ExAC.Info.AC=91473;ExAC.Info.AN=126692;ExAC.Info.AF=0.722;ExAC.Info.AC_Het=24438;ExAC.Info.AC_Hom=33479;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365T>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8K3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K3" target="_blank">OR8K3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312711;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.365T>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8K3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K3" target="_blank">OR8K3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312711;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cTc/cGc;snpeff.Amino_Acid_Change=p.Leu122Arg/c.365T>G;snpeff.Amino_Acid_length=312;snpeff.Gene_Name=OR8K3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K3" target="_blank">OR8K3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312711;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312711;SAVANT_GENE=OR8K3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K3" target="_blank">OR8K3</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.365T>G_p.Leu122Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8K3+c.365T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56086147">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,174:175:99:5726,486,0:127	1|0:116,103:219:99:2812,0,3352:127	1|1:0,195:195:99:6611,585,0:127
11	56113516	.	T	C	22745.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=372;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1905055;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1905055" target="_blank">rs1905055</a>;ExAC.Info.AC=91192;ExAC.Info.AN=126576;ExAC.Info.AF=0.720;ExAC.Info.AC_Het=24159;ExAC.Info.AC_Hom=32839;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2T>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR8K1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K1" target="_blank">OR8K1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000279783;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=start_lost;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met1?/c.2T>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR8K1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K1" target="_blank">OR8K1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000279783;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(OR8K1|ENSG00000150261|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000279783;SAVANT_GENE=OR8K1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K1" target="_blank">OR8K1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.2T>C_p.Met1?;SAVANT_EFFECT=START_LOSS;SAVANT_IMPACT=HIGH;SAVANT_CLASS=IM;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8K1+c.2T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56113516">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:4085,345,0:127	1|0:63,73:136:99:2108,0,1840:127	1|1:0,121:121:99:4155,363,0:127
11	56113575	.	A	G	14768.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=533;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10896271;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10896271" target="_blank">rs10896271</a>;ExAC.Info.AC=55208;ExAC.Info.AN=126678;ExAC.Info.AF=0.436;ExAC.Info.AC_Het=29065;ExAC.Info.AC_Hom=13022;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.61A>G;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR8K1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K1" target="_blank">OR8K1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000279783;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met21Val/c.61A>G;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR8K1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K1" target="_blank">OR8K1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000279783;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000279783;SAVANT_GENE=OR8K1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K1" target="_blank">OR8K1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.61A>G_p.Met21Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8K1+c.61A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56113575">View</a>	GT:AD:DP:GQ:PL:TP	0|1:101,62:163:99:2215,0,2913:127	1|0:115,99:214:99:3594,0,3249:127	0|0:156,0:156:99:0,469,5829:127
11	56113593	.	C	A	11511.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=555;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10896272;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10896272" target="_blank">rs10896272</a>;ExAC.Info.AC=55116;ExAC.Info.AN=126690;ExAC.Info.AF=0.435;ExAC.Info.AC_Het=28994;ExAC.Info.AC_Hom=13017;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.79C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR8K1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K1" target="_blank">OR8K1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000279783;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cct/Act;snpeff.Amino_Acid_Change=p.Pro27Thr/c.79C>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR8K1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K1" target="_blank">OR8K1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000279783;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000279783;SAVANT_GENE=OR8K1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8K1" target="_blank">OR8K1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.79C>A_p.Pro27Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8K1+c.79C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56113593">View</a>	GT:AD:DP:GQ:PL:TP	0|1:98,69:167:99:1845,0,3845:127	1|0:123,94:217:99:2707,0,4733:127	0|0:171,0:171:99:0,521,7373:127
11	56127746	.	A	G	18305.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=229;MQ=69.60;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7942390;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7942390" target="_blank">rs7942390</a>;ExAC.Info.AC=111815;ExAC.Info.AN=126602;ExAC.Info.AF=0.883;ExAC.Info.AC_Het=12643;ExAC.Info.AC_Hom=48544;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.24A>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR8J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8J1" target="_blank">OR8J1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303039;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agA/agG;snpeff.Amino_Acid_Change=p.Arg8Arg/c.24A>G;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR8J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8J1" target="_blank">OR8J1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303039;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303039;SAVANT_GENE=OR8J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8J1" target="_blank">OR8J1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.24A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8J1+c.24A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56127746">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2291,210,0:127	1|1:0,86:86:99:3094,258,0:127	1|1:0,73:73:99:2553,219,0:127
11	56128524	.	C	T	47854.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=621;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7928704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7928704" target="_blank">rs7928704</a>;ExAC.Info.AC=109429;ExAC.Info.AN=124474;ExAC.Info.AF=0.879;ExAC.Info.AC_Het=11806;ExAC.Info.AC_Hom=45291;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.802C>T;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR8J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8J1" target="_blank">OR8J1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303039;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ctg/Ttg;snpeff.Amino_Acid_Change=p.Leu268Leu/c.802C>T;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR8J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8J1" target="_blank">OR8J1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303039;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000303039;SAVANT_GENE=OR8J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8J1" target="_blank">OR8J1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.802C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8J1+c.802C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56128524">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,208:208:99:6959,628,0:127	1|1:0,214:214:99:7372,643,0:127	1|1:0,199:199:99:6865,598,0:127
11	56128673	.	A	AT	6821.25	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs34649252;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34649252" target="_blank">rs34649252</a>;ExAC.Info.AC=8437;ExAC.Info.AN=120492;ExAC.Info.AF=0.070;ExAC.Info.AC_Het=7608;ExAC.Info.AC_Hom=341;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=1;snpeff.Amino_Acid_Change=c.*1_*2insT;snpeff.Amino_Acid_length=316;snpeff.Gene_Name=OR8J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8J1" target="_blank">OR8J1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000303039;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000303039;SAVANT_GENE=OR8J1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8J1" target="_blank">OR8J1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*4dupT;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8J1+c.*4dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56128673">View</a>	GT:AD:DP:GQ:PL:TP	1|0:32,36:68:99:959,0,823:127	0|0:69,0:69:99:0,208,2228:127	1|1:0,70:70:99:2239,210,0:127
11	56143156	.	C	T	17430.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=471;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11228165;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11228165" target="_blank">rs11228165</a>;ExAC.Info.AC=63811;ExAC.Info.AN=125232;ExAC.Info.AF=0.510;ExAC.Info.AC_Het=37811;ExAC.Info.AC_Hom=12820;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp19Asp/c.57C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.57C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.57C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143156">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,70:133:99:2790,0,2454:127	1|0:92,105:197:99:4265,0,3558:127	0|0:141,0:141:99:0,433,6556:127
11	56143158	.	A	G	17430.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=477;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11228166;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11228166" target="_blank">rs11228166</a>;ExAC.Info.AC=64096;ExAC.Info.AN=125238;ExAC.Info.AF=0.512;ExAC.Info.AC_Het=38079;ExAC.Info.AC_Hom=12820;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.59A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAt/cGt;snpeff.Amino_Acid_Change=p.His20Arg/c.59A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.59A>G_p.His20Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.59A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143158">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,71:134:99:2790,0,2454:127	1|0:92,108:200:99:4265,0,3558:127	0|0:143,0:143:99:0,433,6556:127
11	56143424	.	A	G	14711.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=420;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12788990;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12788990" target="_blank">rs12788990</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=9933;ExAC.Info.AN=126300;ExAC.Info.AF=0.079;ExAC.Info.AC_Het=15262;ExAC.Info.AC_Hom=131;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.325A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.325A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ata/Gta;snpeff.Amino_Acid_Change=p.Ile109Val/c.325A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.325A>G_p.Ile109Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.325A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143424">View</a>	GT:AD:DP:GQ:PL:TP	1|0:67,52:119:99:1516,0,1879:127	0|0:160,1:161:99:0,450,6456:127	1|1:0,140:140:99:5108,421,0:127
11	56143434	.	C	G	5712.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=432;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10791961;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10791961" target="_blank">rs10791961</a>;ExAC.Info.AC=48964;ExAC.Info.AN=126210;ExAC.Info.AF=0.388;ExAC.Info.AC_Het=30081;ExAC.Info.AC_Hom=9255;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335C>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.335C>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tCc/tGc;snpeff.Amino_Acid_Change=p.Ser112Cys/c.335C>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.335C>G_p.Ser112Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.335C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143434">View</a>	GT:AD:DP:GQ:PL:TP	0|0:123,0:123:99:0,376,4876:127	0|1:78,91:169:99:2895,0,2515:127	0|0:140,0:140:99:0,433,6305:127
11	56143528	.	A	G	214.15	VQSRTrancheSNP99.90to100.00	InheritancePattern=deNovo;AC=1;AF=0.167;AN=6;DP=694;MQ=69.90;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0/1;NA12892_GT=0/0;NA12891_GT=0/0;dbSNP139.ID=rs10791964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10791964" target="_blank">rs10791964</a>;ExAC.Info.AC=55108;ExAC.Info.AN=126204;ExAC.Info.AF=0.437;ExAC.Info.AC_Het=54956;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln143Gln/c.429A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.429A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.429A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143528">View</a>	GT:AD:DP:GQ:PL:TP	0/1:194,19:213:99:247,0,8128:75	0/0:262,10:272:99:0,339,11307:75	0/0:201,8:209:99:0,155,8641:75
11	56143534	.	A	G	238.21	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=714;MQ=69.91;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs78854227;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78854227" target="_blank">rs78854227</a>;ExAC.Info.AC=55332;ExAC.Info.AN=126196;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=55132;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.435A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val145Val/c.435A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.435A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.435A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143534">View</a>	GT:AD:DP:GQ:PL:TP	1|0:197,21:218:99:271,0,8461:63	0|0:265,13:278:99:0,243,11737:63	1|0:204,14:218:0:0,17,8973:63
11	56143537	.	A	T	431.54	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=731;MQ=69.91;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs74691432;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74691432" target="_blank">rs74691432</a>;ExAC.Info.AC=55334;ExAC.Info.AN=126200;ExAC.Info.AF=0.438;ExAC.Info.AC_Het=55133;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438A>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.438A>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcT;snpeff.Amino_Acid_Change=p.Ala146Ala/c.438A>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.438A>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.438A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143537">View</a>	GT:AD:DP:GQ:PL:TP	1|0:206,21:227:99:319,0,8959:127	0|0:269,15:284:99:0,165,11790:127	1|0:205,15:220:76:76,0,8851:127
11	56143539	.	T	C	731.59	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=742;MQ=69.90;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs75226392;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75226392" target="_blank">rs75226392</a>;ExAC.Info.AC=54492;ExAC.Info.AN=126222;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=54477;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.440T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.440T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTt/gCt;snpeff.Amino_Acid_Change=p.Val147Ala/c.440T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.440T>C_p.Val147Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.440T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143539">View</a>	GT:AD:DP:GQ:PL:TP	1|0:207,23:230:99:439,0,9034:127	0|0:272,16:288:99:0,180,12015:127	1|0:207,17:224:99:166,0,8761:127
11	56143543	.	T	C	982.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=762;MQ=69.90;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs76579014;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76579014" target="_blank">rs76579014</a>;ExAC.Info.AC=54318;ExAC.Info.AN=126202;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=54116;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.444T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.444T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro148Pro/c.444T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.444T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.444T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143543">View</a>	GT:AD:DP:GQ:PL:TP	1|0:212,27:239:99:475,0,9042:127	0|0:281,17:298:99:0,159,12231:127	1|0:206,19:225:99:163,0,8762:127
11	56143544	.	T	C	1003.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=772;MQ=69.90;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs78532946;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=78532946" target="_blank">rs78532946</a>;ExAC.Info.AC=54316;ExAC.Info.AN=126208;ExAC.Info.AF=0.430;ExAC.Info.AC_Het=54113;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.445T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.445T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tat/Cat;snpeff.Amino_Acid_Change=p.Tyr149His/c.445T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.445T>C_p.Tyr149His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.445T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143544">View</a>	GT:AD:DP:GQ:PL:TP	1|0:217,27:244:99:481,0,8958:127	0|0:286,17:303:99:0,156,12186:127	1|0:206,19:225:99:166,0,8720:127
11	56143556	.	T	A	4044.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=785;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs80334520;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80334520" target="_blank">rs80334520</a>;ExAC.Info.AC=56855;ExAC.Info.AN=126224;ExAC.Info.AF=0.450;ExAC.Info.AC_Het=56625;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.457T>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.457T>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Atc;snpeff.Amino_Acid_Change=p.Phe153Ile/c.457T>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.457T>A_p.Phe153Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.457T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143556">View</a>	GT:AD:DP:GQ:PL:TP	0/1:208,39:247:99:996,0,8729:127	0/1:284,29:313:99:474,0,11976:127	0/1:199,26:225:99:487,0,8334:127
11	56143559	.	C	T	4608.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=784;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs74603674;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74603674" target="_blank">rs74603674</a>;ExAC.Info.AC=56853;ExAC.Info.AN=126228;ExAC.Info.AF=0.450;ExAC.Info.AC_Het=56623;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.460C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.460C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cta/Tta;snpeff.Amino_Acid_Change=p.Leu154Leu/c.460C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.460C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.460C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143559">View</a>	GT:AD:DP:GQ:PL:TP	0/1:203,40:243:99:1131,0,8648:127	0/1:283,32:315:99:552,0,12074:127	0/1:200,26:226:99:523,0,8421:127
11	56143561	.	A	G	5102.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=778;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs75242425;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=75242425" target="_blank">rs75242425</a>;ExAC.Info.AC=56850;ExAC.Info.AN=126184;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=56622;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.462A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.462A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu154Leu/c.462A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.462A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.462A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143561">View</a>	GT:AD:DP:GQ:PL:TP	0/1:198,42:240:99:1149,0,8439:127	0/1:279,34:313:99:597,0,12072:127	0/1:198,27:225:99:646,0,8476:127
11	56143562	.	A	G	5318.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=779;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs80111030;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=80111030" target="_blank">rs80111030</a>;ExAC.Info.AC=56852;ExAC.Info.AN=126182;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=56621;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.463A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atg/Gtg;snpeff.Amino_Acid_Change=p.Met155Val/c.463A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.463A>G_p.Met155Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.463A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143562">View</a>	GT:AD:DP:GQ:PL:TP	0/1:198,42:240:99:1191,0,8436:127	0/1:278,34:312:99:684,0,12024:127	0/1:198,29:227:99:646,0,8476:127
11	56143564	.	G	T	5938.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=783;MQ=69.88;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs77640279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77640279" target="_blank">rs77640279</a>;ExAC.Info.AC=56851;ExAC.Info.AN=126240;ExAC.Info.AF=0.450;ExAC.Info.AC_Het=56622;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atT;snpeff.Amino_Acid_Change=p.Met155Ile/c.465G>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.465G>T_p.Met155Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.465G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143564">View</a>	GT:AD:DP:GQ:PL:TP	0/1:198,43:241:99:1272,0,8400:127	0/1:279,37:316:99:761,0,11787:127	0/1:196,30:226:99:772,0,8364:127
11	56143570	.	A	G	7211.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=798;MQ=69.91;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11228169;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11228169" target="_blank">rs11228169</a>;ExAC.Info.AC=56855;ExAC.Info.AN=126166;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=56627;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctA/ctG;snpeff.Amino_Acid_Change=p.Leu157Leu/c.471A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.471A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.471A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143570">View</a>	GT:AD:DP:GQ:PL:TP	0/1:200,49:249:99:1441,0,8202:127	0/1:273,44:317:99:994,0,11299:127	0/1:196,36:232:99:874,0,8042:127
11	56143592	.	C	T	12797.03	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=839;MQ=69.60;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17150411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17150411" target="_blank">rs17150411</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=41629;ExAC.Info.AN=126300;ExAC.Info.AF=0.330;ExAC.Info.AC_Het=41399;ExAC.Info.AC_Hom=13;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgc/Tgc;snpeff.Amino_Acid_Change=p.Arg165Cys/c.493C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.493C>T_p.Arg165Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.493C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143592">View</a>	GT:AD:DP:GQ:PL:TP	0|1:173,95:268:99:2464,0,4938:127	1|0:214,109:323:99:2963,0,6274:127	0|0:248,0:248:99:0,745,8037:127
11	56143690	.	C	A	565.47	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=428;MQ=69.61;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs4990123;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4990123" target="_blank">rs4990123</a>;ExAC.Info.AC=56038;ExAC.Info.AN=126126;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=55771;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.591C>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctC/ctA;snpeff.Amino_Acid_Change=p.Leu197Leu/c.591C>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.591C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.591C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143690">View</a>	GT:AD:DP:GQ:PL:TP	1|0:131,16:147:99:153,0,4308:45	0|0:150,11:161:45:0,45,5163:45	1|0:105,15:120:99:225,0,3538:45
11	56143966	.	C	T	2388.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12291978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12291978" target="_blank">rs12291978</a>;ExAC.Info.AC=29256;ExAC.Info.AN=125700;ExAC.Info.AF=0.233;ExAC.Info.AC_Het=21884;ExAC.Info.AC_Hom=3646;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile289Ile/c.867C>T;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.867C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.867C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143966">View</a>	GT:AD:DP:GQ:PL:TP	0|0:99,0:99:99:0,298,3918:127	0|1:61,46:107:99:1213,0,1798:127	0|0:93,0:93:99:0,280,3755:127
11	56143968	.	A	G	5836.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72925530;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72925530" target="_blank">rs72925530</a>;ExAC.Info.AC=2358;ExAC.Info.AN=125740;ExAC.Info.AF=0.019;ExAC.Info.AC_Het=2276;ExAC.Info.AC_Hom=40;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.869A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAt/tGt;snpeff.Amino_Acid_Change=p.Tyr290Cys/c.869A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.869A>G_p.Tyr290Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.869A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143968">View</a>	GT:AD:DP:GQ:PL:TP	1|0:62,36:98:99:952,0,1736:127	0|0:101,0:101:99:0,307,3920:127	1|0:42,50:92:99:1391,0,1133:127
11	56143977	.	A	G	2110.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=266;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12272403;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12272403" target="_blank">rs12272403</a>;ExAC.Info.AC=40253;ExAC.Info.AN=125618;ExAC.Info.AF=0.320;ExAC.Info.AC_Het=25994;ExAC.Info.AC_Hom=7061;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.878A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln293Arg/c.878A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302270;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302270;SAVANT_GENE=OR8U1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR8U1" target="_blank">OR8U1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.878A>G_p.Gln293Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR8U1+c.878A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56143977">View</a>	GT:AD:DP:GQ:PL:TP	0|0:91,0:91:99:0,277,3461:127	0|1:46,40:86:99:1074,0,1375:127	0|0:89,0:89:99:0,277,3718:127
11	56184888	.	G	A	15592.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=778;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs998544;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=998544" target="_blank">rs998544</a>;ExAC.Info.AC=54713;ExAC.Info.AN=126704;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=28822;ExAC.Info.AC_Hom=12916;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.821G>A;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCt/gTt;snpeff.Amino_Acid_Change=p.Ala274Val/c.821C>T;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312253;SAVANT_GENE=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.821C>T_p.Ala274Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5R1+c.821C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56184888">View</a>	GT:AD:DP:GQ:PL:TP	0|1:109,99:208:99:2828,0,3376:127	1|0:164,137:301:99:3868,0,5088:127	0|0:269,0:269:99:0,808,9610:127
11	56185159	.	A	G	6038.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=545;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7930678;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7930678" target="_blank">rs7930678</a>;ExAC.Info.AC=32408;ExAC.Info.AN=126702;ExAC.Info.AF=0.256;ExAC.Info.AC_Het=22885;ExAC.Info.AC_Hom=4753;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.550A>G;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.550A>G;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe184Leu/c.550T>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312253;SAVANT_GENE=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.550T>C_p.Phe184Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5R1+c.550T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56185159">View</a>	GT:AD:DP:GQ:PL:TP	0|0:176,0:176:99:0,528,6011:127	0|1:93,101:194:99:3038,0,2678:127	0|0:175,0:175:99:0,526,6209:127
11	56185224	.	A	G	17812.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=462;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12785840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12785840" target="_blank">rs12785840</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=15313;ExAC.Info.AN=126704;ExAC.Info.AF=0.121;ExAC.Info.AC_Het=13231;ExAC.Info.AC_Hom=1039;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485A>G;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.485A>G;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile162Thr/c.485T>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312253;SAVANT_GENE=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.485T>C_p.Ile162Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5R1+c.485T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56185224">View</a>	GT:AD:DP:GQ:PL:TP	1|0:71,69:140:99:1999,0,1865:127	0|0:171,0:171:99:0,514,5897:127	1|1:0,151:151:99:5523,454,0:127
11	56185327	.	T	C	3802.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=359;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7933772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7933772" target="_blank">rs7933772</a>;ExAC.Info.AC=32062;ExAC.Info.AN=126704;ExAC.Info.AF=0.253;ExAC.Info.AC_Het=22605;ExAC.Info.AC_Hom=4719;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382T>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.382T>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Ggt;snpeff.Amino_Acid_Change=p.Ser128Gly/c.382A>G;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312253;SAVANT_GENE=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.382A>G_p.Ser128Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5R1+c.382A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56185327">View</a>	GT:AD:DP:GQ:PL:TP	0|0:117,0:117:99:0,352,3996:127	0|1:75,61:136:99:1920,0,2159:127	0|0:106,0:106:99:0,319,3712:127
11	56185345	.	A	G	15732.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=381;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6591324;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6591324" target="_blank">rs6591324</a>;ExAC.Info.AC=96858;ExAC.Info.AN=126694;ExAC.Info.AF=0.765;ExAC.Info.AC_Het=22538;ExAC.Info.AC_Hom=37102;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364A>G;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.364A>G;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys122Arg/c.364T>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312253;SAVANT_GENE=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.364T>C_p.Cys122Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5R1+c.364T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56185345">View</a>	GT:AD:DP:GQ:PL:TP	0|1:60,64:124:99:1933,0,1670:127	1|1:0,147:147:99:5166,442,0:127	0|0:110,0:110:99:0,331,3845:127
11	56185689	.	A	G	5519.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=553;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7931261;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7931261" target="_blank">rs7931261</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=32291;ExAC.Info.AN=126626;ExAC.Info.AF=0.255;ExAC.Info.AC_Het=22525;ExAC.Info.AC_Hom=4682;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.20A>G;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile7Thr/c.20T>C;snpeff.Amino_Acid_length=324;snpeff.Gene_Name=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312253;SAVANT_GENE=OR5R1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5R1" target="_blank">OR5R1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.20T>C_p.Ile7Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5R1+c.20T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56185689">View</a>	GT:AD:DP:GQ:PL:TP	0|0:170,0:170:99:0,510,5495:127	0|1:90,93:183:99:2774,0,2431:127	0|0:200,0:200:99:0,600,6607:127
11	56237410	.	A	G	1992.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=260;MQ=67.91;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs617315;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=617315" target="_blank">rs617315</a>;ExAC.Info.AC=25259;ExAC.Info.AN=126690;ExAC.Info.AF=0.199;ExAC.Info.AC_Het=19611;ExAC.Info.AC_Hom=2810;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564A>G;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR5M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M3" target="_blank">OR5M3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312240;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcT/gcC;snpeff.Amino_Acid_Change=p.Ala188Ala/c.564T>C;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR5M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M3" target="_blank">OR5M3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312240;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312240;SAVANT_GENE=OR5M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M3" target="_blank">OR5M3</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.564T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5M3+c.564T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56237410">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,229,2746:127	0|0:93,0:93:99:0,280,3554:127	0|1:54,37:91:99:1015,0,1595:127
11	56237553	.	G	A	5207.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=453;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=D;dbSNP139.ID=rs151336401;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=151336401" target="_blank">rs151336401</a>;ExAC.Info.AC=128;ExAC.Info.AN=126692;ExAC.Info.AF=1.010e-03;ExAC.Info.AC_Het=123;ExAC.Info.AC_Hom=2;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421G>A;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR5M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M3" target="_blank">OR5M3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312240;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421G>A;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR5M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M3" target="_blank">OR5M3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312240;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cga/Tga;snpeff.Amino_Acid_Change=p.Arg141*/c.421C>T;snpeff.Amino_Acid_length=307;snpeff.Gene_Name=OR5M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M3" target="_blank">OR5M3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312240;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312240;SAVANT_GENE=OR5M3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M3" target="_blank">OR5M3</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.421C>T_p.Arg141X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5M3+c.421C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56237553">View</a>	GT:AD:DP:GQ:PL:TP	0|0:138,0:138:99:0,415,4860:127	0|1:103,94:197:99:2622,0,3275:127	0|0:118,0:118:99:0,355,4317:127
11	56310222	.	C	T	13015.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs628524;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=628524" target="_blank">rs628524</a>;ExAC.Info.AC=93454;ExAC.Info.AN=125772;ExAC.Info.AF=0.743;ExAC.Info.AC_Het=22171;ExAC.Info.AC_Hom=35090;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR5M11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M11" target="_blank">OR5M11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528616;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.512C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR5M11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M11" target="_blank">OR5M11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528616;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGt/aAt;snpeff.Amino_Acid_Change=p.Ser171Asn/c.512G>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR5M11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M11" target="_blank">OR5M11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528616;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528616;SAVANT_GENE=OR5M11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M11" target="_blank">OR5M11</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.512G>A_p.Ser171Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5M11+c.512G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56310222">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:2049,165,0:127	1|0:39,30:69:99:924,0,1271:127	1|1:0,63:63:99:2462,190,0:127
11	56310497	.	C	T	12019.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=551;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72913727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72913727" target="_blank">rs72913727</a>;ExAC.Info.AC=6460;ExAC.Info.AN=126428;ExAC.Info.AF=0.051;ExAC.Info.AC_Het=6024;ExAC.Info.AC_Hom=205;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.237C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR5M11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M11" target="_blank">OR5M11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528616;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro79Pro/c.237G>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR5M11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M11" target="_blank">OR5M11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528616;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528616;SAVANT_GENE=OR5M11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M11" target="_blank">OR5M11</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.237G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5M11+c.237G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56310497">View</a>	GT:AD:DP:GQ:PL:TP	1|0:80,70:150:99:1907,0,2313:127	0|0:227,0:227:99:0,681,7673:127	1|0:82,92:174:99:2658,0,2318:127
11	56344260	.	A	G	5152.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=535;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10896488;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10896488" target="_blank">rs10896488</a>;ExAC.Info.AC=23070;ExAC.Info.AN=124794;ExAC.Info.AF=0.185;ExAC.Info.AC_Het=18227;ExAC.Info.AC_Hom=2377;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.938A>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5M10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M10" target="_blank">OR5M10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile313Thr/c.938T>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5M10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M10" target="_blank">OR5M10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526812;SAVANT_GENE=OR5M10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M10" target="_blank">OR5M10</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.938T>C_p.Ile313Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5M10+c.938T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56344260">View</a>	GT:AD:DP:GQ:PL:TP	0|0:161,0:161:99:0,484,5272:127	0|0:201,0:201:99:0,603,6590:127	0|1:85,88:173:99:2595,0,2318:127
11	56344993	.	C	A	30140.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=494;MQ=67.37;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10792043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10792043" target="_blank">rs10792043</a>;ExAC.Info.AC=84487;ExAC.Info.AN=124992;ExAC.Info.AF=0.676;ExAC.Info.AC_Het=25608;ExAC.Info.AC_Hom=29409;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.205C>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5M10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M10" target="_blank">OR5M10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Tta;snpeff.Amino_Acid_Change=p.Val69Leu/c.205G>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5M10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M10" target="_blank">OR5M10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526812;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526812;SAVANT_GENE=OR5M10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M10" target="_blank">OR5M10</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.205G>T_p.Val69Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5M10+c.205G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56344993">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,145:145:99:4849,436,0:127	1|0:110,96:206:99:2563,0,3424:127	1|1:0,143:143:99:4958,429,0:127
11	56380008	.	C	T	3605.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=416;MQ=69.95;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs12292069;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12292069" target="_blank">rs12292069</a>;ExAC.Info.AC=13941;ExAC.Info.AN=124692;ExAC.Info.AF=0.112;ExAC.Info.AC_Het=11527;ExAC.Info.AC_Hom=974;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12292069" target="_blank">rs12292069</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56380008">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,411,4498:127	0|1:86,65:151:99:1821,0,2669:127	0|0:128,0:128:99:0,385,4485:127
11	56380134	.	C	G	10031.03	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=413;MQ=66.09;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4939078;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4939078" target="_blank">rs4939078</a>;ExAC.Info.AC=47194;ExAC.Info.AN=124890;ExAC.Info.AF=0.378;ExAC.Info.AC_Het=26946;ExAC.Info.AC_Hom=10095;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.845C>G;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M1" target="_blank">OR5M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526538;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aCc;snpeff.Amino_Acid_Change=p.Ser282Thr/c.845G>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M1" target="_blank">OR5M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526538;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000526538;SAVANT_GENE=OR5M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M1" target="_blank">OR5M1</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.845G>C_p.Ser282Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5M1+c.845G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56380134">View</a>	GT:AD:DP:GQ:PL:TP	0|1:68,52:120:99:1466,0,2055:127	1|0:71,81:152:99:2529,0,2022:127	0|0:141,0:141:99:0,424,5088:127
11	56380546	.	CCAGA	C	4511.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=404;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72003051;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72003051" target="_blank">rs72003051</a>;ExAC.Info.AC=22994;ExAC.Info.AN=125168;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=18360;ExAC.Info.AC_Hom=2263;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429_432delCAGA;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M1" target="_blank">OR5M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526538;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.429_432delCAGA;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M1" target="_blank">OR5M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526538;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=tgtctg/;snpeff.Amino_Acid_Change=p.Cys143fs/c.429_432delTCTG;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M1" target="_blank">OR5M1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000526538;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(OR5M1|ENSG00000255012|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000526538;SAVANT_GENE=OR5M1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5M1" target="_blank">OR5M1</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.429_432delTCTG;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5M1+c.429_432delTCTG+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56380546">View</a>	GT:AD:DP:GQ:PL:TP	0|0:118,0:118:99:0,354,5241:127	0|0:140,0:140:99:0,420,6220:127	0|1:85,61:146:99:2279,0,3355:127
11	56409603	.	C	T	3780.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=335;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11606499;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11606499" target="_blank">rs11606499</a>;ExAC.Info.AC=14854;ExAC.Info.AN=126702;ExAC.Info.AF=0.117;ExAC.Info.AC_Het=12528;ExAC.Info.AC_Hom=1145;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala106Thr/c.316G>A;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR5AP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AP2" target="_blank">OR5AP2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000544374;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302981;SAVANT_GENE=OR5AP2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AP2" target="_blank">OR5AP2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.313G>A_p.Ala105Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5AP2+c.313G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56409603">View</a>	GT:AD:DP:GQ:PL:TP	0|0:111,0:111:99:0,334,3943:127	0|1:51,64:115:99:1909,0,1773:127	0|0:109,0:109:99:0,328,4140:127
11	56431216	.	C	T	11119.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=296;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs11228710;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11228710" target="_blank">rs11228710</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=23300193;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23300193" target="_blank">23300193</a>;ExAC.Info.AC=87245;ExAC.Info.AN=126698;ExAC.Info.AF=0.689;ExAC.Info.AC_Het=25370;ExAC.Info.AC_Hom=30896;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.55C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5AR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AR1" target="_blank">OR5AR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302969;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Cag/Tag;snpeff.Amino_Acid_Change=p.Gln19*/c.55C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5AR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AR1" target="_blank">OR5AR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302969;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302969;SAVANT_GENE=OR5AR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AR1" target="_blank">OR5AR1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.55C>T_p.Gln19X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5AR1+c.55C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56431216">View</a>	GT:AD:DP:GQ:PL:TP	0/1:56,47:103:99:1327,0,1615:127	0/1:44,57:101:99:1707,0,1331:127	0/1:39,53:92:99:1505,0,1131:127
11	56431834	.	A	G	7750.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=299;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs56067375;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56067375" target="_blank">rs56067375</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=6382;ExAC.Info.AN=126702;ExAC.Info.AF=0.050;ExAC.Info.AC_Het=5974;ExAC.Info.AC_Hom=203;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673A>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5AR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AR1" target="_blank">OR5AR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302969;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Atc/Gtc;snpeff.Amino_Acid_Change=p.Ile225Val/c.673A>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR5AR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AR1" target="_blank">OR5AR1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302969;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302969;SAVANT_GENE=OR5AR1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AR1" target="_blank">OR5AR1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.673A>G_p.Ile225Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5AR1+c.673A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56431834">View</a>	GT:AD:DP:GQ:PL:TP	1|0:51,63:114:99:2024,0,1395:127	0|0:110,0:110:99:0,330,3973:127	1|0:39,36:75:99:1201,0,1151:127
11	56468020	.	T	C	6759.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=137;MQ=56.56;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs532637;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=532637" target="_blank">rs532637</a>;ExAC.Info.AC=73251;ExAC.Info.AN=126704;ExAC.Info.AF=0.578;ExAC.Info.AC_Het=53280;ExAC.Info.AC_Hom=9970;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.157T>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys53Arg/c.157T>C;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312153;SAVANT_GENE=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.157T>C_p.Cys53Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9G1+c.157T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56468020">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,26:36:99:840,0,213:127	0/1:22,41:63:99:1194,0,515:127	0/1:11,27:38:99:703,0,251:127
11	56468044	.	T	G	2338.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=123;MQ=59.49;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3975155;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3975155" target="_blank">rs3975155</a>;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.181T>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Gtc;snpeff.Amino_Acid_Change=p.Phe61Val/c.181T>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312153;SAVANT_GENE=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.181T>G_p.Phe61Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9G1+c.181T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56468044">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,8:36:99:246,0,1152:127	0/1:39,14:53:99:470,0,1585:127	0/1:26,8:34:99:255,0,1089:127
11	56468047	.	A	G	2297.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=122;MQ=59.54;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2865519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2865519" target="_blank">rs2865519</a>;ExAC.Info.AC=86124;ExAC.Info.AN=126692;ExAC.Info.AF=0.680;ExAC.Info.AC_Het=35762;ExAC.Info.AC_Hom=24972;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.184A>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Gct;snpeff.Amino_Acid_Change=p.Thr62Ala/c.184A>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312153;SAVANT_GENE=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.184A>G_p.Thr62Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9G1+c.184A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56468047">View</a>	GT:AD:DP:GQ:PL:TP	0/1:28,7:35:99:246,0,1152:127	0/1:38,14:52:99:470,0,1585:127	0/1:27,8:35:99:255,0,1089:127
11	56468048	.	C	T	10282.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=121;MQ=59.42;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2865520;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2865520" target="_blank">rs2865520</a>;ExAC.Info.AC=126540;ExAC.Info.AN=126702;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=157;ExAC.Info.AC_Hom=63159;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.185C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aTt;snpeff.Amino_Acid_Change=p.Thr62Ile/c.185C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312153;SAVANT_GENE=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.185C>T_p.Thr62Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9G1+c.185C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56468048">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,35:35:99:1243,105,0:101	1|1:0,53:53:99:1970,159,0:101	1|1:0,33:33:99:1141,102,0:101
11	56468155	.	T	G	5970.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=141;MQ=67.02;MQ0=0;culprit=MQRankSum;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11228732;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11228732" target="_blank">rs11228732</a>;ExAC.Info.AC=32123;ExAC.Info.AN=126702;ExAC.Info.AF=0.254;ExAC.Info.AC_Het=32103;ExAC.Info.AC_Hom=2;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.292T>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.292T>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Ggt;snpeff.Amino_Acid_Change=p.Cys98Gly/c.292T>G;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312153;SAVANT_GENE=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.292T>G_p.Cys98Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9G1+c.292T>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56468155">View</a>	GT:AD:DP:GQ:PL:TP	0/1:8,24:32:99:847,0,180:127	0/1:22,35:57:99:1146,0,635:127	0/1:23,29:52:99:836,0,638:127
11	56468259	.	C	T	22805.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=284;MQ=64.04;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs503776;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=503776" target="_blank">rs503776</a>;ExAC.Info.AC=63320;ExAC.Info.AN=126702;ExAC.Info.AF=0.500;ExAC.Info.AC_Het=63309;ExAC.Info.AC_Hom=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.396C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala132Ala/c.396C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312153;SAVANT_GENE=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.396C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9G1+c.396C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56468259">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2451,210,0:127	1|1:0,119:119:99:4044,358,0:127	1|1:0,95:95:99:3442,286,0:127
11	56468638	.	G	T	4876.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=462;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7121276;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7121276" target="_blank">rs7121276</a>;ExAC.Info.AC=13482;ExAC.Info.AN=126704;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=13486;ExAC.Info.AC_Hom=0;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.775G>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gct/Tct;snpeff.Amino_Acid_Change=p.Ala259Ser/c.775G>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000312153;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000312153;SAVANT_GENE=OR9G1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G1" target="_blank">OR9G1</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.775G>T_p.Ala259Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9G1+c.775G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56468638">View</a>	GT:AD:DP:GQ:PL:TP	0|0:139,0:139:99:0,417,4659:127	0|1:90,84:174:99:2457,0,2537:127	0|0:149,0:149:99:0,447,5142:127
11	56508525	.	A	G	5242.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs556056;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=556056" target="_blank">rs556056</a>;ExAC.Info.AC=70280;ExAC.Info.AN=123092;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=18251;ExAC.Info.AC_Hom=13893;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.871A>G;snpeff.Gene_Name=OR9G3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G3P" target="_blank">OR9G3P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000525553;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G3P" target="_blank">OR9G3P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9G3P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56508525">View</a>	GT:AD:DP:GQ:PL:TP	0|1:30,15:45:99:448,0,913:127	1|1:0,44:44:99:1703,132,0:127	0|0:50,0:50:99:0,150,1752:127
11	56508619	.	G	A	7147.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=205;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|1;dbSNP139.ID=rs545772;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=545772" target="_blank">rs545772</a>;snpeff.Effect=intergenic_region;snpeff.Effect_Impact=MODIFIER;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=545772" target="_blank">rs545772</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56508619">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,30:76:99:663,0,1291:127	1|1:0,75:75:99:2358,225,0:127	0|0:54,0:54:99:0,162,1919:127
11	56510623	.	A	G	4509.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=368;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs513873;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=513873" target="_blank">rs513873</a>;ExAC.Info.AC=31977;ExAC.Info.AN=126704;ExAC.Info.AF=0.252;ExAC.Info.AC_Het=23010;ExAC.Info.AC_Hom=4478;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.665A>G;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=OR9G4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G4" target="_blank">OR9G4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTa/gCa;snpeff.Amino_Acid_Change=p.Val222Ala/c.665T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=OR9G4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G4" target="_blank">OR9G4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302957;SAVANT_GENE=OR9G4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G4" target="_blank">OR9G4</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.665T>C_p.Val222Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9G4+c.665T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56510623">View</a>	GT:AD:DP:GQ:PL:TP	0|0:126,0:126:99:0,379,4107:127	0|1:70,71:141:99:2273,0,1896:127	0|0:101,0:101:99:0,304,3368:127
11	56510672	.	T	C	37949.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=438;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs577576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=577576" target="_blank">rs577576</a>;ExAC.Info.AC=126310;ExAC.Info.AN=126702;ExAC.Info.AF=0.997;ExAC.Info.AC_Het=382;ExAC.Info.AC_Hom=62917;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.616T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=OR9G4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G4" target="_blank">OR9G4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aac/Gac;snpeff.Amino_Acid_Change=p.Asn206Asp/c.616A>G;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=OR9G4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G4" target="_blank">OR9G4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302957;SAVANT_GENE=OR9G4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G4" target="_blank">OR9G4</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.616A>G_p.Asn206Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9G4+c.616A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56510672">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,154:154:99:5499,463,0:127	1|1:1,154:155:99:6219,434,0:127	1|1:0,129:129:99:4700,387,0:127
11	56510694	.	T	C	4837.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=453;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs1397053;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1397053" target="_blank">rs1397053</a>;ExAC.Info.AC=21656;ExAC.Info.AN=126700;ExAC.Info.AF=0.171;ExAC.Info.AC_Het=17363;ExAC.Info.AC_Hom=2132;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.594T>C;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=OR9G4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G4" target="_blank">OR9G4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccA/ccG;snpeff.Amino_Acid_Change=p.Pro198Pro/c.594A>G;snpeff.Amino_Acid_length=327;snpeff.Gene_Name=OR9G4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G4" target="_blank">OR9G4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302957;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302957;SAVANT_GENE=OR9G4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9G4" target="_blank">OR9G4</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.594A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9G4+c.594A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56510694">View</a>	GT:AD:DP:GQ:PL:TP	0|0:157,0:157:99:0,472,5340:127	0|1:77,81:158:99:2434,0,2203:127	0|0:138,0:138:99:0,415,4670:127
11	56570067	.	A	G	6422.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=557;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs7121576;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7121576" target="_blank">rs7121576</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.204T>C;snpeff.Gene_Name=OR5G5P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5G5P" target="_blank">OR5G5P</a>;snpeff.Transcript_BioType=transcribed_unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000440707;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5G5P" target="_blank">OR5G5P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5G5P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56570067">View</a>	GT:AD:DP:GQ:PL:TP	0|0:171,0:171:99:0,514,5738:127	0|1:102,110:212:99:3230,0,3038:127	0|0:174,0:174:99:0,523,6056:127
11	56756664	.	G	A	27567.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=360;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2853083;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2853083" target="_blank">rs2853083</a>;ExAC.Info.AC=80428;ExAC.Info.AN=126698;ExAC.Info.AF=0.635;ExAC.Info.AC_Het=28057;ExAC.Info.AC_Hom=26157;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.276G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR5AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AK2" target="_blank">OR5AK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326855;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=atG/atA;snpeff.Amino_Acid_Change=p.Met92Ile/c.276G>A;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR5AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AK2" target="_blank">OR5AK2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000326855;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000326855;SAVANT_GENE=OR5AK2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AK2" target="_blank">OR5AK2</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.276G>A_p.Met92Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5AK2+c.276G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56756664">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,117:117:99:3835,352,0:127	1|1:0,133:133:99:4463,400,0:127	1|1:0,110:110:99:3789,331,0:127
11	56954846	.	C	T	13213.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=525;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs716745;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=716745" target="_blank">rs716745</a>;ExAC.Info.AC=39866;ExAC.Info.AN=126704;ExAC.Info.AF=0.315;ExAC.Info.AC_Het=26647;ExAC.Info.AC_Hom=6601;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe306Phe/c.918C>T;snpeff.Amino_Acid_length=341;snpeff.Gene_Name=LRRC55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC55" target="_blank">LRRC55</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000497933;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000497933;SAVANT_GENE=LRRC55;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRRC55" target="_blank">LRRC55</a>;SAVANT_INFO=+/10.0kb/2/5.4kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.918C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LRRC55+c.918C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:56954846">View</a>	GT:AD:DP:GQ:PL:TP	0|1:71,88:159:99:2329,0,1784:127	1|0:111,98:209:99:2801,0,3160:127	0|0:157,0:157:99:0,472,5398:127
11	57004344	.	G	T	11219.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=227;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs948847;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=948847" target="_blank">rs948847</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=74327;ExAC.Info.AN=126700;ExAC.Info.AF=0.587;ExAC.Info.AC_Het=30048;ExAC.Info.AC_Hom=22075;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggC/ggA;snpeff.Amino_Acid_Change=p.Gly45Gly/c.135C>A;snpeff.Amino_Acid_length=380;snpeff.Gene_Name=APLNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APLNR" target="_blank">APLNR</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000606794;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257254;SAVANT_GENE=APLNR;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=APLNR" target="_blank">APLNR</a>;SAVANT_INFO=-/3.7kb/2/1.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.135C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=APLNR+c.135C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57004344">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,38:68:99:1020,0,904:127	0|1:38,51:89:99:1489,0,1030:127	1|1:0,70:70:99:2505,211,0:127
11	57077464	.	T	C	14054.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=514;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs10896602;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10896602" target="_blank">rs10896602</a>;ExAC.Info.AC=39440;ExAC.Info.AN=126704;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=26776;ExAC.Info.AC_Hom=6328;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caA/caG;snpeff.Amino_Acid_Change=p.Gln907Gln/c.2721A>G;snpeff.Amino_Acid_length=1729;snpeff.Gene_Name=TNKS1BP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS1BP1" target="_blank">TNKS1BP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532437;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000532437;SAVANT_GENE=TNKS1BP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS1BP1" target="_blank">TNKS1BP1</a>;SAVANT_INFO=-/22.6kb/11/6.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.2721A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNKS1BP1+c.2721A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57077464">View</a>	GT:AD:DP:GQ:PL:TP	0|1:82,94:176:99:2910,0,2225:127	1|0:105,91:196:99:2689,0,3144:127	0|0:142,0:142:99:0,427,5084:127
11	57081197	.	G	C	7310.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=168;MQ=69.95;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4939134;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4939134" target="_blank">rs4939134</a>;ExAC.Info.AC=65738;ExAC.Info.AN=125596;ExAC.Info.AF=0.523;ExAC.Info.AC_Het=21257;ExAC.Info.AC_Hom=14090;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCt/aGt;snpeff.Amino_Acid_Change=p.Thr322Ser/c.965C>G;snpeff.Amino_Acid_length=1729;snpeff.Gene_Name=TNKS1BP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS1BP1" target="_blank">TNKS1BP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532437;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000532437;SAVANT_GENE=TNKS1BP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TNKS1BP1" target="_blank">TNKS1BP1</a>;SAVANT_INFO=-/22.6kb/11/6.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.965C>G_p.Thr322Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TNKS1BP1+c.965C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57081197">View</a>	GT:AD:DP:GQ:PL:TP	1|0:25,22:47:99:622,0,822:127	0|1:42,36:78:99:1090,0,1293:127	1|1:0,43:43:99:1479,129,0:127
11	57094842	.	TA	T	101.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=225;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1871+57delT;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=SSRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSRP1" target="_blank">SSRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.96-374delA;snpeff.Gene_Name=RP11-872D17.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSRP1" target="_blank">SSRP1</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000534162;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg/Lys-rich__basic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872delA;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=SSRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSRP1" target="_blank">SSRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278412;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Arg/Lys-rich__basic_];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1872delA;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=SSRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSRP1" target="_blank">SSRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278412;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000278412;SAVANT_GENE=SSRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSRP1" target="_blank">SSRP1</a>;SAVANT_INFO=-/9.9kb/17/2.8kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1871+57delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=SSRP1+c.1871+57delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57094842">View</a>	GT:AD:DP:GQ:PL:TP	0|0:79,5:84:99:0,128,1931:73	0|0:77,6:83:84:0,84,1913:73	0|1:49,9:58:74:74,0,1137:73
11	57100256	.	T	G	3812.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs72921999;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72921999" target="_blank">rs72921999</a>;ExAC.Info.AC=1;ExAC.Info.AN=126702;ExAC.Info.AF=7.893e-06;ExAC.Info.AC_Het=1;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAg/gCg;snpeff.Amino_Acid_Change=p.Glu204Ala/c.611A>C;snpeff.Amino_Acid_length=709;snpeff.Gene_Name=SSRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSRP1" target="_blank">SSRP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278412;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278412;SAVANT_GENE=SSRP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSRP1" target="_blank">SSRP1</a>;SAVANT_INFO=-/9.9kb/17/2.8kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.611A>C_p.Glu204Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SSRP1+c.611A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57100256">View</a>	GT:AD:DP:GQ:PL:TP	0|0:101,0:101:99:0,304,3371:127	0|1:65,64:129:99:1925,0,1995:127	0|0:96,0:96:99:0,289,3478:127
11	57137296	.	G	A	13495.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=262;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2276040;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2276040" target="_blank">rs2276040</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1081-61G>A;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263314;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1081G>A;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263314;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1081G>A;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263314;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263314;SAVANT_GENE=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;SAVANT_INFO=+/32.1kb/12/1.8kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1081-61G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=P2RX3+c.1081-61G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57137296">View</a>	GT:AD:DP:GQ:PL:TP	0|1:52,41:93:99:1092,0,1600:127	1|1:0,98:98:99:3487,295,0:127	0|1:31,40:71:99:1154,0,932:127
11	57137371	.	G	A	12028.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=561;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs2276039;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2276039" target="_blank">rs2276039</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=53666;ExAC.Info.AN=126688;ExAC.Info.AF=0.424;ExAC.Info.AC_Het=28442;ExAC.Info.AC_Hom=12253;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095G>A;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263314;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1095G>A;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263314;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr365Thr/c.1095G>A;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263314;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263314;SAVANT_GENE=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;SAVANT_INFO=+/32.1kb/12/1.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1095G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=P2RX3+c.1095G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57137371">View</a>	GT:AD:DP:GQ:PL:TP	1|0:92,95:187:99:2379,0,2430:127	0|0:218,0:218:99:0,655,7024:127	1|0:86,70:156:99:1805,0,2388:127
11	57137424	.	C	T	10827.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=506;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2276038;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2276038" target="_blank">rs2276038</a>;ExAC.Info.AC=55273;ExAC.Info.AN=126694;ExAC.Info.AF=0.436;ExAC.Info.AC_Het=28403;ExAC.Info.AC_Hom=13191;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148C>T;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263314;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1148C>T;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263314;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala383Val/c.1148C>T;snpeff.Amino_Acid_length=397;snpeff.Gene_Name=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263314;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263314;SAVANT_GENE=P2RX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=P2RX3" target="_blank">P2RX3</a>;SAVANT_INFO=+/32.1kb/12/1.8kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1148C>T_p.Ala383Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=P2RX3+c.1148C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57137424">View</a>	GT:AD:DP:GQ:PL:TP	1|0:93,83:176:99:2161,0,2522:127	0|0:195,0:195:99:0,586,6678:127	1|0:75,60:135:99:1698,0,2221:127
11	57146202	.	G	A	1650.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs1940145;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1940145" target="_blank">rs1940145</a>;ExAC.Info.AC=4457;ExAC.Info.AN=126682;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=4273;ExAC.Info.AC_Hom=89;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser153Ser/c.459C>T;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287143;SAVANT_GENE=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;SAVANT_INFO=-/4.4kb/6/0.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.459C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG3+c.459C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57146202">View</a>	GT:AD:DP:GQ:PL:TP	0|0:90,0:90:99:0,270,3381:127	0|0:98,0:98:99:0,295,3639:127	0|1:42,33:75:99:844,0,1441:127
11	57147016	.	A	G	21407.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs540687;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=540687" target="_blank">rs540687</a>;ExAC.Info.AC=125059;ExAC.Info.AN=126602;ExAC.Info.AF=0.988;ExAC.Info.AC_Het=1365;ExAC.Info.AC_Hom=61569;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:C-type_lectin];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.326A>G;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTc/aCc;snpeff.Amino_Acid_Change=p.Ile109Thr/c.326T>C;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287143;SAVANT_GENE=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;SAVANT_INFO=-/4.4kb/6/0.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.326T>C_p.Ile109Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG3+c.326T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57147016">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2241,204,0:127	1|1:0,92:92:99:3345,277,0:127	1|1:0,72:72:99:2714,217,0:127
11	57148175	.	A	G	15021.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs669661;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=669661" target="_blank">rs669661</a>;ExAC.Info.AC=124562;ExAC.Info.AN=126308;ExAC.Info.AF=0.986;ExAC.Info.AC_Het=1214;ExAC.Info.AC_Hom=52356;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.7A>G;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys3Arg/c.7T>C;snpeff.Amino_Acid_length=225;snpeff.Gene_Name=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287143;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287143;SAVANT_GENE=PRG3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG3" target="_blank">PRG3</a>;SAVANT_INFO=-/4.4kb/6/0.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.7T>C_p.Cys3Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG3+c.7T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57148175">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,50:50:99:1669,150,0:127	1|1:0,68:68:99:2373,204,0:127	1|1:0,63:63:99:2179,189,0:127
11	57155001	.	G	A	20914.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs536455;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=536455" target="_blank">rs536455</a>;ExAC.Info.AC=122611;ExAC.Info.AN=126702;ExAC.Info.AF=0.968;ExAC.Info.AC_Het=2796;ExAC.Info.AC_Hom=59732;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-872D17.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-872D178" target="_blank">RP11-872D178</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cac/Tac;snpeff.Amino_Acid_Change=p.His206Tyr/c.616C>T;snpeff.Amino_Acid_length=222;snpeff.Gene_Name=PRG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-872D178" target="_blank">RP11-872D178</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311862;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311862;SAVANT_GENE=PRG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG2" target="_blank">PRG2</a>;SAVANT_INFO=-/3.9kb/6/1.4kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.616C>T_p.His206Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG2+c.616C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57155001">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,68:68:99:2239,204,0:127	1|1:0,91:91:99:3220,274,0:127	1|1:0,77:77:99:2622,231,0:127
11	57155288	.	T	C	12282.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs630396;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=630396" target="_blank">rs630396</a>;ExAC.Info.AC=121825;ExAC.Info.AN=124172;ExAC.Info.AF=0.981;ExAC.Info.AC_Het=1252;ExAC.Info.AC_Hom=39246;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-872D17.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-872D178" target="_blank">RP11-872D178</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcA/gcG;snpeff.Amino_Acid_Change=p.Ala183Ala/c.549A>G;snpeff.Amino_Acid_length=222;snpeff.Gene_Name=PRG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-872D178" target="_blank">RP11-872D178</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311862;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311862;SAVANT_GENE=PRG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG2" target="_blank">PRG2</a>;SAVANT_INFO=-/3.9kb/6/1.4kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.549A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRG2+c.549A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57155288">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1828,153,0:127	1|1:0,61:61:99:2001,183,0:127	1|1:0,46:46:99:1597,138,0:127
11	57157405	.	A	G	31898.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=464;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs490358;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=490358" target="_blank">rs490358</a>;ExAC.Info.AC=95720;ExAC.Info.AN=126698;ExAC.Info.AF=0.755;ExAC.Info.AC_Het=22711;ExAC.Info.AC_Hom=36269;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Tta/Cta;snpeff.Amino_Acid_Change=p.Leu5Leu/c.13T>C;snpeff.Amino_Acid_length=222;snpeff.Gene_Name=PRG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG2" target="_blank">PRG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311862;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Tta/Cta;snpeff.Amino_Acid_Change=p.Leu110Leu/c.328T>C;snpeff.Amino_Acid_length=226;snpeff.Gene_Name=RP11-872D17.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRG2" target="_blank">PRG2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529411;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000529411:ENST00000311862;SAVANT_GENE=RP11-872D17.8:PRG2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-872D178:PRG2" target="_blank">RP11-872D178:PRG2</a>;SAVANT_INFO=-/21.1kb/4/0.7kb:-/3.9kb/6/1.4kb;SAVANT_LOC=Ex3:Ex2;SAVANT_HGVS=c.328T>C_p.=:c.13T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-872D178:PRG2+c.328T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57157405">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,151:151:99:5028,454,0:127	1|0:77,99:176:99:2983,0,2098:127	1|1:0,137:137:99:4729,412,0:127
11	57176628	.	C	T	1622.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=156;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2241899;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2241899" target="_blank">rs2241899</a>;ExAC.Info.AC=28460;ExAC.Info.AN=126700;ExAC.Info.AF=0.225;ExAC.Info.AC_Het=21549;ExAC.Info.AC_Hom=3448;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1410+20G>A;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=SLC43A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC43A3" target="_blank">SLC43A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533524;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.303+20G>A;snpeff.Amino_Acid_length=226;snpeff.Gene_Name=RP11-872D17.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC43A3" target="_blank">SLC43A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529411;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.ERRORS=WARNING_TRANSCRIPT_NO_START_CODON;TYPE=SNP;SAVANT_ENST=ENST00000395123:ENST00000529411;SAVANT_GENE=SLC43A3:RP11-872D17.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC43A3:RP11-872D178" target="_blank">SLC43A3:RP11-872D178</a>;SAVANT_INFO=-/20.0kb/14/2.6kb:-/21.1kb/4/0.7kb;SAVANT_LOC=In13/14:In2/3;SAVANT_HGVS=c.1371+20G>A:c.303+20G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC43A3:RP11-872D178+c.1371+20G>A:c.303+20G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57176628">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1916:127	0|1:33,26:59:99:830,0,958:127	0|0:45,0:45:99:0,135,1564:127
11	57177593	.	A	G	1488.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs62640922;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62640922" target="_blank">rs62640922</a>;ExAC.Info.AC=3527;ExAC.Info.AN=126272;ExAC.Info.AF=0.028;ExAC.Info.AC_Het=2887;ExAC.Info.AC_Hom=42;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-872D17.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-872D178" target="_blank">RP11-872D178</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly367Gly/c.1101T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=SLC43A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-872D178" target="_blank">RP11-872D178</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533524;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1101T>C;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=SLC43A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-872D178" target="_blank">RP11-872D178</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000533524;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395123;SAVANT_GENE=SLC43A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC43A3" target="_blank">SLC43A3</a>;SAVANT_INFO=-/20.0kb/14/2.6kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1062T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC43A3+c.1062T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57177593">View</a>	GT:AD:DP:GQ:PL:TP	0|0:52,0:52:99:0,156,1659:127	0|0:69,0:69:99:0,207,2200:127	0|1:17,21:38:99:763,0,512:127
11	57258617	.	T	C	3966.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=114;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2729384;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2729384" target="_blank">rs2729384</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1193+80A>G;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=SLC43A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC43A1" target="_blank">SLC43A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278426;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278426;SAVANT_GENE=SLC43A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC43A1" target="_blank">SLC43A1</a>;SAVANT_INFO=-/31.3kb/15/2.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1193+80A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC43A1+c.1193+80A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57258617">View</a>	GT:AD:DP:GQ:PL:TP	0/1:17,14:31:99:460,0,472:127	0/1:30,21:51:99:584,0,870:127	0/1:16,16:32:99:467,0,430:127
11	57268252	.	C	T	768.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=94;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs112450479;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112450479" target="_blank">rs112450479</a>;ExAC.Info.AC=2847;ExAC.Info.AN=126702;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2773;ExAC.Info.AC_Hom=32;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acA;snpeff.Amino_Acid_Change=p.Thr155Thr/c.465G>A;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=SLC43A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC43A1" target="_blank">SLC43A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278426;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.465G>A;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=SLC43A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC43A1" target="_blank">SLC43A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278426;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278426;SAVANT_GENE=SLC43A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC43A1" target="_blank">SLC43A1</a>;SAVANT_INFO=-/31.3kb/15/2.6kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.465G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC43A1+c.465G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57268252">View</a>	GT:AD:DP:GQ:PL:TP	0|0:24,0:24:72:0,72,810:71	0|0:40,0:40:99:0,120,1351:71	0|1:16,14:30:99:403,0,485:71
11	57268599	.	C	T	1706.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=162;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs112531913;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=112531913" target="_blank">rs112531913</a>;ExAC.Info.AC=2829;ExAC.Info.AN=126656;ExAC.Info.AF=0.022;ExAC.Info.AC_Het=2718;ExAC.Info.AC_Hom=34;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.332+26G>A;snpeff.Amino_Acid_length=559;snpeff.Gene_Name=SLC43A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC43A1" target="_blank">SLC43A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278426;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278426;SAVANT_GENE=SLC43A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC43A1" target="_blank">SLC43A1</a>;SAVANT_INFO=-/31.3kb/15/2.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.332+26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC43A1+c.332+26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57268599">View</a>	GT:AD:DP:GQ:PL:TP	0|0:59,0:59:99:0,177,2048:127	0|0:54,0:54:99:0,162,1893:127	0|1:19,30:49:99:872,0,580:127
11	57313469	.	C	G	4539.03	PASS	InGeneList;InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=164;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12223229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12223229" target="_blank">rs12223229</a>;ExAC.Info.AC=58788;ExAC.Info.AN=124758;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=29394;ExAC.Info.AC_Hom=14046;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Ggg;snpeff.Amino_Acid_Change=p.Arg363Gly/c.1087C>G;snpeff.Amino_Acid_length=512;snpeff.Gene_Name=SMTNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMTNL1" target="_blank">SMTNL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000457912;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000457912;SAVANT_GENE=SMTNL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMTNL1" target="_blank">SMTNL1</a>;SAVANT_INFO=+/9.1kb/8/2.1kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1087C>G_p.Arg363Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SMTNL1+c.1087C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57313469">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,29:60:99:776,0,746:127	0|0:55,0:55:99:0,165,1790:127	1|0:26,23:49:99:678,0,675:127
11	57334508	.	G	A	2162.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=181;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4939152;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4939152" target="_blank">rs4939152</a>;ExAC.Info.AC=1955;ExAC.Info.AN=16314;ExAC.Info.AF=0.120;ExAC.Info.AC_Het=1383;ExAC.Info.AC_Hom=140;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.27+550C>T;snpeff.Amino_Acid_length=153;snpeff.Gene_Name=UBE2L6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2L6" target="_blank">UBE2L6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287156;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>A;snpeff.Amino_Acid_length=153;snpeff.Gene_Name=UBE2L6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2L6" target="_blank">UBE2L6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287156;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>A;snpeff.Amino_Acid_length=153;snpeff.Gene_Name=UBE2L6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2L6" target="_blank">UBE2L6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287156;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287156;SAVANT_GENE=UBE2L6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2L6" target="_blank">UBE2L6</a>;SAVANT_INFO=-/16.1kb/4/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.27+550C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBE2L6+c.27+550C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57334508">View</a>	GT:AD:DP:GQ:PL:TP	0|0:49,0:49:99:0,147,1724:127	0|1:38,42:80:99:1100,0,1068:127	0|0:52,0:52:99:0,156,1890:127
11	57334973	.	G	C	830.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=134;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs76147534;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76147534" target="_blank">rs76147534</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.27+85C>G;snpeff.Amino_Acid_length=153;snpeff.Gene_Name=UBE2L6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2L6" target="_blank">UBE2L6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287156;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>C;snpeff.Amino_Acid_length=153;snpeff.Gene_Name=UBE2L6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2L6" target="_blank">UBE2L6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287156;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[helix];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.28G>C;snpeff.Amino_Acid_length=153;snpeff.Gene_Name=UBE2L6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2L6" target="_blank">UBE2L6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287156;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287156;SAVANT_GENE=UBE2L6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=UBE2L6" target="_blank">UBE2L6</a>;SAVANT_INFO=-/16.1kb/4/1.4kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.27+85C>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=UBE2L6+c.27+85C>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57334973">View</a>	GT:AD:DP:GQ:PL:TP	0|0:39,0:39:99:0,117,1337:116	0|0:53,0:53:99:0,159,1829:116	0|1:26,16:42:99:434,0,754:116
11	57379170	.	A	G	14226.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=159;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;OMIM_phenotypes.name=Angioedema|_hereditary|_types_I_and_II|_106100_(3)|_Complement_component_4|_partial_deficiency_of|_120790_(3);dbSNP139.ID=rs2511988;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2511988" target="_blank">rs2511988</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Macular_degeneration|_age_related|_association_with;hgmd_2014.2.OMIM_ID=606860;hgmd_2014.2.PubMed=19200915;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=19200915" target="_blank">19200915</a>;ExAC.Info.AC=74441;ExAC.Info.AN=126688;ExAC.Info.AF=0.588;ExAC.Info.AC_Het=28252;ExAC.Info.AC_Hom=23036;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1159-20A>G;snpeff.Amino_Acid_length=543;snpeff.Gene_Name=SERPING1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPING1" target="_blank">SERPING1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000403558;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278407;SAVANT_GENE=SERPING1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPING1" target="_blank">SERPING1</a>;SAVANT_INFO=+/17.3kb/8/2.0kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1030-20A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SERPING1+c.1030-20A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57379170">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,42:42:99:1598,126,0:127	1|1:0,66:66:99:2548,199,0:127	1|1:0,51:51:99:1894,153,0:127
11	57414387	.	A	G	5200.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=184;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7947357;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7947357" target="_blank">rs7947357</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.141+53T>C;snpeff.Amino_Acid_length=127;snpeff.Gene_Name=YPEL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YPEL4" target="_blank">YPEL4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000524669;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.298-3384A>G;snpeff.Gene_Name=AP000662.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YPEL4" target="_blank">YPEL4</a>;snpeff.Transcript_BioType=sense_overlapping;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000530595;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000524669;SAVANT_GENE=YPEL4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=YPEL4" target="_blank">YPEL4</a>;SAVANT_INFO=-/4.9kb/5/4.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.141+53T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=YPEL4+c.141+53T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57414387">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,24:52:99:674,0,938:127	0|0:72,0:72:99:0,217,2842:127	1|0:24,36:60:99:1142,0,758:127
11	57460224	.	C	T	5495.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=139;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12801694;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12801694" target="_blank">rs12801694</a>;ExAC.Info.AC=28320;ExAC.Info.AN=126660;ExAC.Info.AF=0.224;ExAC.Info.AC_Het=20801;ExAC.Info.AC_Hom=3173;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.752+50C>T;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753C>T;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753C>T;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753C>T;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753C>T;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753C>T;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753C>T;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.753C>T;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287169;SAVANT_GENE=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;SAVANT_INFO=+/33.3kb/12/4.7kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.752+50C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZDHHC5+c.752+50C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57460224">View</a>	GT:AD:DP:GQ:PL:TP	0/1:15,34:49:99:996,0,428:127	0/1:18,26:44:99:821,0,514:127	0/1:20,26:46:99:757,0,637:127
11	57463500	.	T	C	2852.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=155;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1783978;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1783978" target="_blank">rs1783978</a>;ExAC.Info.AC=78326;ExAC.Info.AN=126698;ExAC.Info.AF=0.618;ExAC.Info.AC_Het=28545;ExAC.Info.AC_Hom=24781;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>C;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>C;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>C;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>C;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>C;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>C;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.994T>C;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Ttg/Ctg;snpeff.Amino_Acid_Change=p.Leu332Leu/c.994T>C;snpeff.Amino_Acid_length=715;snpeff.Gene_Name=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000287169;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287169;SAVANT_GENE=ZDHHC5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZDHHC5" target="_blank">ZDHHC5</a>;SAVANT_INFO=+/33.3kb/12/4.7kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.994T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZDHHC5+c.994T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57463500">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,25:56:99:759,0,922:127	0|0:65,0:65:99:0,195,2216:127	1|0:16,18:34:99:551,0,480:127
11	57472185	.	T	G	3665.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=128;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs56088923;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=56088923" target="_blank">rs56088923</a>;ExAC.Info.AC=5137;ExAC.Info.AN=126692;ExAC.Info.AF=0.041;ExAC.Info.AC_Het=4836;ExAC.Info.AC_Hom=150;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.571+6A>C;snpeff.Amino_Acid_length=244;snpeff.Gene_Name=MED19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MED19" target="_blank">MED19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431606;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.572A>C;snpeff.Amino_Acid_length=244;snpeff.Gene_Name=MED19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MED19" target="_blank">MED19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000431606;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337672;SAVANT_GENE=MED19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MED19" target="_blank">MED19</a>;SAVANT_INFO=-/8.5kb/4/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.571+6A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MED19+c.571+6A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57472185">View</a>	GT:AD:DP:GQ:PL:TP	1|0:21,10:31:99:255,0,629:127	0|0:58,0:58:99:0,174,2087:127	1|0:16,23:39:99:809,0,493:127
11	57509429	.	A	G	23094.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs635663;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=635663" target="_blank">rs635663</a>;ExAC.Info.AC=122252;ExAC.Info.AN=124688;ExAC.Info.AF=0.980;ExAC.Info.AC_Het=1531;ExAC.Info.AC_Hom=54103;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.268+3A>G;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=C11orf31;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf31" target="_blank">C11orf31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.250+4289A>G;snpeff.Gene_Name=TMX2-CTNND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf31" target="_blank">C11orf31</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000528395;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.269A>G;snpeff.Amino_Acid_length=122;snpeff.Gene_Name=C11orf31;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf31" target="_blank">C11orf31</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000534355;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000388857;SAVANT_GENE=C11orf31;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf31" target="_blank">C11orf31</a>;SAVANT_INFO=+/1.1kb/3/0.8kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.268+3A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf31+c.268+3A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57509429">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2681,216,0:127	1|1:0,97:97:99:3781,291,0:127	1|1:0,71:71:99:2786,214,0:127
11	57563991	.	C	T	27102.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=635;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10896644;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10896644" target="_blank">rs10896644</a>;ExAC.Info.AC=44305;ExAC.Info.AN=125068;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=27152;ExAC.Info.AC_Hom=8538;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp161Asp/c.483C>T;snpeff.Amino_Acid_length=968;snpeff.Gene_Name=CTNND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNND1" target="_blank">CTNND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399050;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399050;SAVANT_GENE=CTNND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNND1" target="_blank">CTNND1</a>;SAVANT_INFO=+/57.4kb/21/6.3kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.483C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTNND1+c.483C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57563991">View</a>	GT:AD:DP:GQ:PL:TP	0|1:119,105:224:99:2919,0,3213:127	1|1:0,221:221:99:7161,663,0:127	0|1:97,93:190:99:2667,0,2638:127
11	57571232	.	C	T	28344.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs11229137;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229137" target="_blank">rs11229137</a>;ExAC.Info.AC=124819;ExAC.Info.AN=124916;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=96;ExAC.Info.AC_Hom=62076;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=caC/caT;snpeff.Amino_Acid_Change=p.His520His/c.1560C>T;snpeff.Amino_Acid_length=968;snpeff.Gene_Name=CTNND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNND1" target="_blank">CTNND1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000399050;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000399050;SAVANT_GENE=CTNND1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CTNND1" target="_blank">CTNND1</a>;SAVANT_INFO=+/57.4kb/21/6.3kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1560C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CTNND1+c.1560C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57571232">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,120:120:99:3831,361,0:127	1|1:0,131:131:99:4417,394,0:127	1|1:0,120:120:99:3933,361,0:127
11	57799108	.	AC	A	4621.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs34846253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34846253" target="_blank">rs34846253</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.PubMed=12730696;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12730696" target="_blank">12730696</a>;ExAC.Info.AC=19275;ExAC.Info.AN=126704;ExAC.Info.AF=0.152;ExAC.Info.AC_Het=15890;ExAC.Info.AC_Hom=1688;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-93+7533delC;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR9Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.685delC;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR6Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302622;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=ctg/;snpeff.Amino_Acid_Change=p.Leu229fs/c.685delC;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR6Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302622;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(OR6Q1|ENSG00000172381|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000335397:ENST00000302622;SAVANT_GENE=OR9Q1:OR6Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1:OR6Q1" target="_blank">OR9Q1:OR6Q1</a>;SAVANT_INFO=+/157.7kb/3/2.5kb:+/1.0kb/1/1.0kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-147808delC:c.685delC;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=5PU:FC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9Q1:OR6Q1+c.-147808delC:c.685delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57799108">View</a>	GT:AD:DP:GQ:PL:TP	0|0:104,0:104:99:0,313,4197:127	0|1:66,69:135:99:2334,0,2253:127	0|0:106,0:106:99:0,319,4252:127
11	57799183	.	C	T	9419.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=496;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs7123727;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7123727" target="_blank">rs7123727</a>;ExAC.Info.AC=28878;ExAC.Info.AN=126704;ExAC.Info.AF=0.228;ExAC.Info.AC_Het=21317;ExAC.Info.AC_Hom=3779;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-93+7607C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR9Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.759C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR6Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302622;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser253Ser/c.759C>T;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR6Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302622;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335397:ENST00000302622;SAVANT_GENE=OR9Q1:OR6Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1:OR6Q1" target="_blank">OR9Q1:OR6Q1</a>;SAVANT_INFO=+/157.7kb/3/2.5kb:+/1.0kb/1/1.0kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-147734C>T:c.759C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU:SC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9Q1:OR6Q1+c.-147734C>T:c.759C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57799183">View</a>	GT:AD:DP:GQ:PL:TP	1|0:85,77:162:99:1958,0,2265:127	0|0:203,0:203:99:0,609,7170:127	1|0:68,63:131:99:1664,0,1885:127
11	57799371	.	G	C	5087.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=132;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1374570;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1374570" target="_blank">rs1374570</a>;ExAC.Info.AC=59265;ExAC.Info.AN=125744;ExAC.Info.AF=0.471;ExAC.Info.AC_Het=29609;ExAC.Info.AC_Hom=14245;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-93+7795G>C;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR9Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335397;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.947G>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR6Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302622;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGa/gCa;snpeff.Amino_Acid_Change=p.Gly316Ala/c.947G>C;snpeff.Amino_Acid_length=317;snpeff.Gene_Name=OR6Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302622;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335397:ENST00000302622;SAVANT_GENE=OR9Q1:OR6Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1:OR6Q1" target="_blank">OR9Q1:OR6Q1</a>;SAVANT_INFO=+/157.7kb/3/2.5kb:+/1.0kb/1/1.0kb;SAVANT_LOC=5UTR:Ex1;SAVANT_HGVS=c.-147546G>C:c.947G>C_p.Gly316Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=5PU:NSC;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9Q1:OR6Q1+c.-147546G>C:c.947G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57799371">View</a>	GT:AD:DP:GQ:PL:TP	0/1:7,22:29:99:792,0,204:127	0/1:32,26:58:99:856,0,1075:127	0/1:22,23:45:99:666,0,767:127
11	57876682	.	C	T	8507.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61738000;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61738000" target="_blank">rs61738000</a>;ExAC.Info.AC=10529;ExAC.Info.AN=111548;ExAC.Info.AF=0.094;ExAC.Info.AC_Het=3459;ExAC.Info.AC_Hom=363;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.452G>A;snpeff.Gene_Name=OR9I3P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9I3P" target="_blank">OR9I3P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000608484;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-15+53263C>T;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR9Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9I3P" target="_blank">OR9I3P</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335397;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335397;SAVANT_GENE=OR9Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;SAVANT_INFO=+/157.7kb/3/2.5kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-70235C>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9Q1+c.-70235C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57876682">View</a>	GT:AD:DP:GQ:PL:TP	0/1:42,35:77:99:956,0,1388:127	0/1:59,52:111:99:1489,0,1911:127	0/1:56,48:104:99:1256,0,1710:127
11	57947264	.	C	G	11686.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=373;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11229273;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229273" target="_blank">rs11229273</a>;ExAC.Info.AC=39350;ExAC.Info.AN=126704;ExAC.Info.AF=0.311;ExAC.Info.AC_Het=24919;ExAC.Info.AC_Hom=7198;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.348C>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR9Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335397;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.348C>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR9Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335397;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcG;snpeff.Amino_Acid_Change=p.Ala116Ala/c.348C>G;snpeff.Amino_Acid_length=310;snpeff.Gene_Name=OR9Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335397;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335397;SAVANT_GENE=OR9Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q1" target="_blank">OR9Q1</a>;SAVANT_INFO=+/157.7kb/3/2.5kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.348C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9Q1+c.348C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57947264">View</a>	GT:AD:DP:GQ:PL:TP	0/1:65,51:116:99:1455,0,1972:127	0/1:80,62:142:99:1731,0,2435:127	0/1:58,57:115:99:1623,0,1651:127
11	57957960	.	T	C	699.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=76;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs61902821;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61902821" target="_blank">rs61902821</a>;ExAC.Info.AC=28017;ExAC.Info.AN=126676;ExAC.Info.AF=0.221;ExAC.Info.AC_Het=20858;ExAC.Info.AC_Hom=3495;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=3;snpeff.Amino_Acid_Change=c.-3T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR9Q2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q2" target="_blank">OR9Q2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311591;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311591;SAVANT_GENE=OR9Q2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q2" target="_blank">OR9Q2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-3T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9Q2+c.-3T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57957960">View</a>	GT:AD:DP:GQ:PL:TP	0|0:33,0:33:99:0,99,1088:50	0|1:13,13:26:99:368,0,370:50	0|0:17,0:17:51:0,51,603:50
11	57958497	.	T	C	3766.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=444;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=H;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs34337292;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=34337292" target="_blank">rs34337292</a>;ExAC.Info.AC=30289;ExAC.Info.AN=126704;ExAC.Info.AF=0.239;ExAC.Info.AC_Het=22322;ExAC.Info.AC_Hom=3972;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.535T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR9Q2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q2" target="_blank">OR9Q2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311591;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.535T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR9Q2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q2" target="_blank">OR9Q2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311591;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgt/Cgt;snpeff.Amino_Acid_Change=p.Cys179Arg/c.535T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR9Q2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q2" target="_blank">OR9Q2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311591;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311591;SAVANT_GENE=OR9Q2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q2" target="_blank">OR9Q2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.535T>C_p.Cys179Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9Q2+c.535T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57958497">View</a>	GT:AD:DP:GQ:PL:TP	0|0:135,0:135:99:0,406,4941:127	0|1:101,65:166:99:1902,0,2996:127	0|0:143,0:143:99:0,433,5037:127
11	57958775	.	C	T	10156.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=423;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs7120468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7120468" target="_blank">rs7120468</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=47116;ExAC.Info.AN=126704;ExAC.Info.AF=0.372;ExAC.Info.AC_Het=27612;ExAC.Info.AC_Hom=9750;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.813C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR9Q2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q2" target="_blank">OR9Q2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311591;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gaC/gaT;snpeff.Amino_Acid_Change=p.Asp271Asp/c.813C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR9Q2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q2" target="_blank">OR9Q2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000311591;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000311591;SAVANT_GENE=OR9Q2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR9Q2" target="_blank">OR9Q2</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.813C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR9Q2+c.813C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57958775">View</a>	GT:AD:DP:GQ:PL:TP	0|1:67,68:135:99:1844,0,2068:127	1|0:82,83:165:99:2305,0,2377:127	0|0:123,0:123:99:0,370,4412:127
11	57970980	.	A	G	10414.76	VQSRTrancheSNP99.90to100.00	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=709;MQ=68.77;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11229277;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229277" target="_blank">rs11229277</a>;ExAC.Info.AC=12822;ExAC.Info.AN=126704;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=11310;ExAC.Info.AC_Hom=708;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.674A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTa/gCa;snpeff.Amino_Acid_Change=p.Val225Ala/c.674T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302592;SAVANT_GENE=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.674T>C_p.Val225Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S2+c.674T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57970980">View</a>	GT:AD:DP:GQ:PL:TP	0|0:208,10:218:99:0,212,12813:127	0|0:242,9:251:99:0,357,15740:127	0|1:107,133:240:99:5226,0,6509:127
11	57970981	.	C	T	10414.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=707;MQ=68.77;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11229278;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229278" target="_blank">rs11229278</a>;ExAC.Info.AC=12827;ExAC.Info.AN=126704;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=11316;ExAC.Info.AC_Hom=709;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673C>T;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val225Ile/c.673G>A;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302592;SAVANT_GENE=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.673G>A_p.Val225Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S2+c.673G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57970981">View</a>	GT:AD:DP:GQ:PL:TP	0|0:207,10:217:99:0,212,12813:127	0|0:243,9:252:99:0,357,15740:127	0|1:107,131:238:99:5226,0,6509:127
11	57971195	.	G	A	10840.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=480;MQ=69.83;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs11229279;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229279" target="_blank">rs11229279</a>;cosmic68.Histology_subtype=adenocarcinoma;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>A;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttC/ttT;snpeff.Amino_Acid_Change=p.Phe153Phe/c.459C>T;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302592;SAVANT_GENE=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.459C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S2+c.459C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57971195">View</a>	GT:AD:DP:GQ:PL:TP	0|1:77,66:143:99:1785,0,4316:127	1|0:106,96:202:99:2591,0,5690:127	0|0:135,0:135:99:0,415,6358:127
11	57971201	.	G	A	21392.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=500;MQ=69.90;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs11229280;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229280" target="_blank">rs11229280</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=59981;ExAC.Info.AN=126704;ExAC.Info.AF=0.473;ExAC.Info.AC_Het=30130;ExAC.Info.AC_Hom=14821;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.453G>A;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.453G>A;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcC/gcT;snpeff.Amino_Acid_Change=p.Ala151Ala/c.453C>T;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302592;SAVANT_GENE=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.453C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S2+c.453C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57971201">View</a>	GT:AD:DP:GQ:PL:TP	0/1:80,70:150:99:2666,0,2473:127	0/1:112,96:208:99:3707,0,3227:127	0/1:56,86:142:99:2610,0,1664:127
11	57971478	.	A	G	6132.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=529;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11229281;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229281" target="_blank">rs11229281</a>;ExAC.Info.AC=12842;ExAC.Info.AN=126702;ExAC.Info.AF=0.101;ExAC.Info.AC_Het=11243;ExAC.Info.AC_Hom=798;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.176A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile59Thr/c.176T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302592;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302592;SAVANT_GENE=OR1S2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S2" target="_blank">OR1S2</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.176T>C_p.Ile59Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S2+c.176T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57971478">View</a>	GT:AD:DP:GQ:PL:TP	0|0:172,0:172:99:0,517,5893:127	0|0:194,0:194:99:0,583,6693:127	0|1:68,95:163:99:3085,0,1871:127
11	57982229	.	A	G	26642.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=548;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1966836;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1966836" target="_blank">rs1966836</a>;ExAC.Info.AC=88645;ExAC.Info.AN=126676;ExAC.Info.AF=0.700;ExAC.Info.AC_Het=24786;ExAC.Info.AC_Hom=31870;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.13A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Ggt;snpeff.Amino_Acid_Change=p.Ser5Gly/c.13A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309433;SAVANT_GENE=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.13A>G_p.Ser5Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S1+c.13A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57982229">View</a>	GT:AD:DP:GQ:PL:TP	0|1:86,83:169:99:2318,0,2381:127	1|1:1,186:187:99:7019,552,0:127	0|1:91,101:192:99:2981,0,2526:127
11	57982584	.	T	C	17328.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=588;MQ=69.83;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1966835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1966835" target="_blank">rs1966835</a>;ExAC.Info.AC=61828;ExAC.Info.AN=126704;ExAC.Info.AF=0.488;ExAC.Info.AC_Het=29383;ExAC.Info.AC_Hom=16217;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTt/aCt;snpeff.Amino_Acid_Change=p.Ile123Thr/c.368T>C;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309433;SAVANT_GENE=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.368T>C_p.Ile123Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S1+c.368T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57982584">View</a>	GT:AD:DP:GQ:PL:TP	0/1:103,81:184:99:2249,0,2930:127	0/1:115,110:225:99:2985,0,3232:127	0/1:103,76:179:99:2025,0,3015:127
11	57982620	.	A	G	17916.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=658;MQ=69.88;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1966834;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1966834" target="_blank">rs1966834</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Olfactory_receptor_deficiency;hgmd_2014.2.PubMed=12730696;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=12730696" target="_blank">12730696</a>;ExAC.Info.AC=61401;ExAC.Info.AN=126704;ExAC.Info.AF=0.485;ExAC.Info.AC_Het=29413;ExAC.Info.AC_Hom=15986;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.404A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His135Arg/c.404A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309433;SAVANT_GENE=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.404A>G_p.His135Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S1+c.404A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57982620">View</a>	GT:AD:DP:GQ:PL:TP	0/1:127,91:218:99:2372,0,3475:127	0/1:120,112:232:99:2993,0,3217:127	0/1:129,79:208:99:2053,0,3566:127
11	57982832	.	T	A	10885.34	VQSRTrancheSNP99.90to100.00	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=432;MQ=68.76;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2867400;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2867400" target="_blank">rs2867400</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=61701;ExAC.Info.AN=126686;ExAC.Info.AF=0.487;ExAC.Info.AC_Het=29340;ExAC.Info.AC_Hom=15988;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.616T>A;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttg/Atg;snpeff.Amino_Acid_Change=p.Leu206Met/c.616T>A;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309433;SAVANT_GENE=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.616T>A_p.Leu206Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S1+c.616T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57982832">View</a>	GT:AD:DP:GQ:PL:TP	0/1:75,39:114:99:1137,0,2138:127	0/1:99,62:161:99:1916,0,2921:127	0/1:95,62:157:99:1881,0,2815:127
11	57982896	.	G	T	18743.34	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=756;MQ=69.45;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2903566;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2903566" target="_blank">rs2903566</a>;ExAC.Info.AC=61764;ExAC.Info.AN=126702;ExAC.Info.AF=0.487;ExAC.Info.AC_Het=29335;ExAC.Info.AC_Hom=16182;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.680G>T;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGc/aTc;snpeff.Amino_Acid_Change=p.Ser227Ile/c.680G>T;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309433;SAVANT_GENE=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.680G>T_p.Ser227Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S1+c.680G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57982896">View</a>	GT:AD:DP:GQ:PL:TP	0/1:140,95:235:99:2271,0,4364:127	0/1:152,116:268:99:3020,0,4518:127	0/1:129,124:253:99:3133,0,3646:127
11	57983162	.	A	G	5296.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=523;MQ=65.25;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7103026;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7103026" target="_blank">rs7103026</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=26684;ExAC.Info.AN=126680;ExAC.Info.AF=0.211;ExAC.Info.AC_Het=20308;ExAC.Info.AC_Hom=3178;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.946A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aag/Gag;snpeff.Amino_Acid_Change=p.Lys316Glu/c.946A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309433;SAVANT_GENE=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.946A>G_p.Lys316Glu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S1+c.946A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57983162">View</a>	GT:AD:DP:GQ:PL:TP	0|0:162,0:162:99:0,487,5357:127	0|1:100,90:190:99:2667,0,3052:127	0|0:171,0:171:99:0,514,5900:127
11	57983194	.	A	G	11002.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=399;MQ=66.52;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs7103033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7103033" target="_blank">rs7103033</a>;ExAC.Info.AC=48751;ExAC.Info.AN=126664;ExAC.Info.AF=0.385;ExAC.Info.AC_Het=27791;ExAC.Info.AC_Hom=10333;snpeff.Effect=stop_lost;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tgA/tgG;snpeff.Amino_Acid_Change=p.Ter326Trpext*?/c.978A>G;snpeff.Amino_Acid_length=325;snpeff.Gene_Name=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309433;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309433;SAVANT_GENE=OR1S1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR1S1" target="_blank">OR1S1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.978A>G_p.X326TrpextX?;SAVANT_EFFECT=STOP_LOSS;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SL;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR1S1+c.978A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57983194">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,72:120:99:2036,0,1305:127	1|0:64,85:149:99:2753,0,1722:127	0|0:130,0:130:99:0,390,4383:127
11	57996084	.	G	A	7001.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs61902844;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61902844" target="_blank">rs61902844</a>;ExAC.Info.AC=44818;ExAC.Info.AN=126704;ExAC.Info.AF=0.354;ExAC.Info.AC_Het=27329;ExAC.Info.AC_Hom=8733;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.264G>A;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR10Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10Q1" target="_blank">OR10Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316770;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=aaC/aaT;snpeff.Amino_Acid_Change=p.Asn88Asn/c.264C>T;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR10Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10Q1" target="_blank">OR10Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316770;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316770;SAVANT_GENE=OR10Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10Q1" target="_blank">OR10Q1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.264C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10Q1+c.264C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57996084">View</a>	GT:AD:DP:GQ:PL:TP	0/1:32,29:61:99:715,0,969:127	0/1:70,50:120:99:1227,0,2076:127	0/1:35,33:68:99:863,0,956:127
11	57996312	.	C	G	19546.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4245219;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4245219" target="_blank">rs4245219</a>;ExAC.Info.AC=122711;ExAC.Info.AN=126302;ExAC.Info.AF=0.972;ExAC.Info.AC_Het=3194;ExAC.Info.AC_Hom=59470;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.36C>G;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR10Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10Q1" target="_blank">OR10Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316770;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gaG/gaC;snpeff.Amino_Acid_Change=p.Glu12Asp/c.36G>C;snpeff.Amino_Acid_length=319;snpeff.Gene_Name=OR10Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10Q1" target="_blank">OR10Q1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316770;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316770;SAVANT_GENE=OR10Q1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10Q1" target="_blank">OR10Q1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.36G>C_p.Glu12Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10Q1+c.36G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:57996312">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,72:72:99:2375,216,0:127	1|1:0,94:94:99:3160,282,0:127	1|1:0,78:78:99:2623,234,0:127
11	58034543	.	C	T	7924.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=251;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10792156;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10792156" target="_blank">rs10792156</a>;ExAC.Info.AC=58058;ExAC.Info.AN=126702;ExAC.Info.AF=0.458;ExAC.Info.AC_Het=30489;ExAC.Info.AC_Hom=13740;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.788C>T;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR10W1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10W1" target="_blank">OR10W1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395079;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cGg/cAg;snpeff.Amino_Acid_Change=p.Arg263Gln/c.788G>A;snpeff.Amino_Acid_length=305;snpeff.Gene_Name=OR10W1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10W1" target="_blank">OR10W1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000395079;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000395079;SAVANT_GENE=OR10W1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10W1" target="_blank">OR10W1</a>;SAVANT_INFO=-/1.5kb/1/1.5kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.788G>A_p.Arg263Gln;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10W1+c.788G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58034543">View</a>	GT:AD:DP:GQ:PL:TP	0/1:43,32:75:99:933,0,1208:127	0/1:56,37:93:99:1077,0,1715:127	0/1:40,43:83:99:1227,0,1243:127
11	58125620	.	T	C	13006.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=396;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4127353;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4127353" target="_blank">rs4127353</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=86479;ExAC.Info.AN=126644;ExAC.Info.AF=0.683;ExAC.Info.AC_Het=26406;ExAC.Info.AC_Hom=29745;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.923T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B17" target="_blank">OR5B17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357377;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tAt/tGt;snpeff.Amino_Acid_Change=p.Tyr308Cys/c.923A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B17" target="_blank">OR5B17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357377;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357377;SAVANT_GENE=OR5B17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B17" target="_blank">OR5B17</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.923A>G_p.Tyr308Cys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B17+c.923A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58125620">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,57:115:99:1775,0,1564:127	0/1:87,72:159:99:2116,0,2493:127	0/1:58,64:122:99:1911,0,1632:127
11	58126305	.	A	T	10150.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=378;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4939208;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4939208" target="_blank">rs4939208</a>;ExAC.Info.AC=86056;ExAC.Info.AN=126700;ExAC.Info.AF=0.679;ExAC.Info.AC_Het=26852;ExAC.Info.AC_Hom=29527;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.238A>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B17" target="_blank">OR5B17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357377;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tta/Ata;snpeff.Amino_Acid_Change=p.Leu80Ile/c.238T>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B17" target="_blank">OR5B17</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000357377;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000357377;SAVANT_GENE=OR5B17;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B17" target="_blank">OR5B17</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.238T>A_p.Leu80Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B17+c.238T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58126305">View</a>	GT:AD:DP:GQ:PL:TP	0/1:59,65:124:99:1599,0,1576:127	0/1:68,45:113:99:1139,0,1955:127	0/1:73,68:141:99:1830,0,2086:127
11	58169996	.	T	C	14187.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12279895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12279895" target="_blank">rs12279895</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=40358;ExAC.Info.AN=126704;ExAC.Info.AF=0.319;ExAC.Info.AC_Het=26772;ExAC.Info.AC_Hom=6781;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.887T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAg/aGg;snpeff.Amino_Acid_Change=p.Lys296Arg/c.887A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309403;SAVANT_GENE=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.887A>G_p.Lys296Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B3+c.887A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58169996">View</a>	GT:AD:DP:GQ:PL:TP	0/1:67,52:119:99:1391,0,1922:127	0/1:89,83:172:99:2367,0,2427:127	0/1:69,74:143:99:2160,0,1937:127
11	58170025	.	C	G	12586.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=388;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs12271646;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12271646" target="_blank">rs12271646</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=40349;ExAC.Info.AN=126704;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=26777;ExAC.Info.AC_Hom=6776;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.858C>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu286Leu/c.858G>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309403;SAVANT_GENE=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.858G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B3+c.858G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58170025">View</a>	GT:AD:DP:GQ:PL:TP	0/1:58,39:97:99:1200,0,2024:127	0/1:87,72:159:99:2099,0,2567:127	0/1:63,69:132:99:2103,0,1919:127
11	58170143	.	C	G	7956.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=230;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11229409;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229409" target="_blank">rs11229409</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=40338;ExAC.Info.AN=126698;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=26769;ExAC.Info.AC_Hom=6765;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.740C>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gCc;snpeff.Amino_Acid_Change=p.Gly247Ala/c.740G>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309403;SAVANT_GENE=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.740G>C_p.Gly247Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B3+c.740G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58170143">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,38:76:99:1082,0,1245:127	0/1:40,48:88:99:1373,0,1259:127	0/1:34,32:66:99:1067,0,1003:127
11	58170291	.	T	C	8745.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=237;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11229410;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229410" target="_blank">rs11229410</a>;ExAC.Info.AC=40343;ExAC.Info.AN=126696;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=26751;ExAC.Info.AC_Hom=6767;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.592T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile198Val/c.592A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309403;SAVANT_GENE=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.592A>G_p.Ile198Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B3+c.592A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58170291">View</a>	GT:AD:DP:GQ:PL:TP	0/1:36,40:76:99:1216,0,922:127	0/1:37,38:75:99:1175,0,1114:127	0/1:41,45:86:99:1369,0,1176:127
11	58170342	.	C	T	8389.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11229411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229411" target="_blank">rs11229411</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=40350;ExAC.Info.AN=126700;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=26769;ExAC.Info.AC_Hom=6771;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.541C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.541C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gca/Aca;snpeff.Amino_Acid_Change=p.Ala181Thr/c.541G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309403;SAVANT_GENE=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.541G>A_p.Ala181Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B3+c.541G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58170342">View</a>	GT:AD:DP:GQ:PL:TP	0/1:50,41:91:99:1160,0,1420:127	0/1:58,39:97:99:1160,0,1794:127	0/1:44,38:82:99:1130,0,1478:127
11	58170374	.	T	C	9749.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12280114;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12280114" target="_blank">rs12280114</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=40356;ExAC.Info.AN=126704;ExAC.Info.AF=0.319;ExAC.Info.AC_Het=26780;ExAC.Info.AC_Hom=6780;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.509T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn170Ser/c.509A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309403;SAVANT_GENE=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.509A>G_p.Asn170Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B3+c.509A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58170374">View</a>	GT:AD:DP:GQ:PL:TP	0/1:54,42:96:99:1218,0,1467:127	0/1:65,52:117:99:1572,0,1826:127	0/1:46,41:87:99:1288,0,1346:127
11	58170738	.	A	G	16378.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=507;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11229413;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229413" target="_blank">rs11229413</a>;ExAC.Info.AC=40335;ExAC.Info.AN=126696;ExAC.Info.AF=0.318;ExAC.Info.AC_Het=26751;ExAC.Info.AC_Hom=6769;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.145A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgg/Cgg;snpeff.Amino_Acid_Change=p.Trp49Arg/c.145T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000309403;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000309403;SAVANT_GENE=OR5B3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B3" target="_blank">OR5B3</a>;SAVANT_INFO=-/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.145T>C_p.Trp49Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B3+c.145T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58170738">View</a>	GT:AD:DP:GQ:PL:TP	0/1:73,81:154:99:2324,0,2199:127	0/1:100,80:180:99:2331,0,3049:127	0/1:87,86:173:99:2719,0,2743:127
11	58190112	.	A	G	4364.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10466659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10466659" target="_blank">rs10466659</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=27677;ExAC.Info.AN=126658;ExAC.Info.AF=0.219;ExAC.Info.AC_Het=21363;ExAC.Info.AC_Hom=3108;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.623A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR5B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B2" target="_blank">OR5B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302581;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTt/gCt;snpeff.Amino_Acid_Change=p.Val208Ala/c.623T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR5B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B2" target="_blank">OR5B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302581;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302581;SAVANT_GENE=OR5B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B2" target="_blank">OR5B2</a>;SAVANT_INFO=-/1.1kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.623T>C_p.Val208Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B2+c.623T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58190112">View</a>	GT:AD:DP:GQ:PL:TP	1|0:28,26:54:99:851,0,811:127	0|0:73,0:73:99:0,220,2721:127	1|0:20,29:49:99:960,0,610:127
11	58190136	.	A	G	4263.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4298923;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4298923" target="_blank">rs4298923</a>;ExAC.Info.AC=56381;ExAC.Info.AN=126658;ExAC.Info.AF=0.445;ExAC.Info.AC_Het=30122;ExAC.Info.AC_Hom=13043;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.599A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR5B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B2" target="_blank">OR5B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302581;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met200Thr/c.599T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR5B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B2" target="_blank">OR5B2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302581;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302581;SAVANT_GENE=OR5B2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B2" target="_blank">OR5B2</a>;SAVANT_INFO=-/1.1kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.599T>C_p.Met200Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B2+c.599T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58190136">View</a>	GT:AD:DP:GQ:PL:TP	1|0:31,31:62:99:871,0,942:127	0|0:73,0:73:99:0,220,2790:127	1|0:21,29:50:99:919,0,697:127
11	58207203	.	C	T	6796.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=291;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11229457;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229457" target="_blank">rs11229457</a>;ExAC.Info.AC=27668;ExAC.Info.AN=126700;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=21389;ExAC.Info.AC_Hom=3136;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.422C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B12" target="_blank">OR5B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.422C>T;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B12" target="_blank">OR5B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tGc/tAc;snpeff.Amino_Acid_Change=p.Cys141Tyr/c.422G>A;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B12" target="_blank">OR5B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302572;SAVANT_GENE=OR5B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B12" target="_blank">OR5B12</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.422G>A_p.Cys141Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B12+c.422G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58207203">View</a>	GT:AD:DP:GQ:PL:TP	1|0:53,42:95:99:1139,0,1537:127	0|0:101,0:101:99:0,303,3726:127	1|0:48,47:95:99:1337,0,1382:127
11	58207204	.	A	G	27595.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=292;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs4938895;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4938895" target="_blank">rs4938895</a>;ExAC.Info.AC=126694;ExAC.Info.AN=126700;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=3;ExAC.Info.AC_Hom=63333;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B12" target="_blank">OR5B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.421A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B12" target="_blank">OR5B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tgc/Cgc;snpeff.Amino_Acid_Change=p.Cys141Arg/c.421T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR5B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B12" target="_blank">OR5B12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302572;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302572;SAVANT_GENE=OR5B12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5B12" target="_blank">OR5B12</a>;SAVANT_INFO=-/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.421T>C_p.Cys141Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5B12+c.421T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58207204">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,97:97:99:3800,292,0:127	1|1:0,100:100:99:3675,300,0:127	1|1:0,95:95:99:3768,286,0:127
11	58318619	.	C	G	10138.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=221;MQ=69.96;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs1047979;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1047979" target="_blank">rs1047979</a>;ExAC.Info.AC=70157;ExAC.Info.AN=126700;ExAC.Info.AF=0.554;ExAC.Info.AC_Het=30358;ExAC.Info.AC_Hom=19819;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctC;snpeff.Amino_Acid_Change=p.Leu140Leu/c.420G>C;snpeff.Amino_Acid_length=391;snpeff.Gene_Name=LPXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPXN" target="_blank">LPXN</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000528954;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000528954;SAVANT_GENE=LPXN;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPXN" target="_blank">LPXN</a>;SAVANT_INFO=-/51.3kb/9/1.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.420G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=LPXN+c.420G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58318619">View</a>	GT:AD:DP:GQ:PL:TP	0|1:46,35:81:99:978,0,1370:127	1|1:0,65:65:99:2265,195,0:127	0|1:34,41:75:99:1238,0,1060:127
11	58378424	.	A	G	4526.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=203;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs8373;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=8373" target="_blank">rs8373</a>;ExAC.Info.AC=29653;ExAC.Info.AN=126690;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=22276;ExAC.Info.AC_Hom=3629;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.619A>G;snpeff.Gene_Name=ZFP91-CNTF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389919;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.619A>G;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316059;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.619A>G;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316059;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Glu-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.619A>G;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316059;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=n.619A>G;snpeff.Gene_Name=ZFP91-CNTF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389919;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.619A>G;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316059;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Ggt;snpeff.Amino_Acid_Change=p.Ser207Gly/c.619A>G;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316059;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316059;SAVANT_GENE=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91" target="_blank">ZFP91</a>;SAVANT_INFO=+/41.9kb/11/5.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.619A>G_p.Ser207Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFP91+c.619A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58378424">View</a>	GT:AD:DP:GQ:PL:TP	1|0:35,21:56:99:669,0,957:127	0|0:83,0:83:99:0,249,2715:127	1|0:36,28:64:99:989,0,1056:127
11	58379663	.	CGT	C	164.5	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs139680226;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=139680226" target="_blank">rs139680226</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.858-87_858-86delGT;snpeff.Gene_Name=ZFP91-CNTF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389919;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.858-87_858-86delGT;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316059;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000316059;SAVANT_GENE=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91" target="_blank">ZFP91</a>;SAVANT_INFO=+/41.9kb/11/5.2kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.858-71_858-70delGT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFP91+c.858-71_858-70delGT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58379663">View</a>	GT:AD:DP:GQ:PL:TP	0|0:45,2:47:66:0,66,1568:65	0|0:72,2:74:99:0,147,2503:65	0|1:26,5:31:77:77,0,862:65
11	58380192	.	C	CT	3519.5	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=95;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs35224542;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35224542" target="_blank">rs35224542</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.909-42_909-41insT;snpeff.Gene_Name=ZFP91-CNTF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389919;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.909-42_909-41insT;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316059;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000316059;SAVANT_GENE=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91" target="_blank">ZFP91</a>;SAVANT_INFO=+/41.9kb/11/5.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.909-31dupT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFP91+c.909-31dupT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58380192">View</a>	GT:AD:DP:GQ:PL:TP	1|1:1,26:27:54:617,54,0:52	1|0:14,21:35:99:434,0,202:52	1|1:2,31:33:59:665,59,0:52
11	58381686	.	A	G	8649.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=455;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1938596;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1938596" target="_blank">rs1938596</a>;ExAC.Info.AC=57122;ExAC.Info.AN=126634;ExAC.Info.AF=0.451;ExAC.Info.AC_Het=30282;ExAC.Info.AC_Hom=13257;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.988-16A>G;snpeff.Gene_Name=ZFP91-CNTF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389919;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.988-16A>G;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316059;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.988A>G;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316059;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[zinc_finger_region:C2H2-type_1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.988A>G;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316059;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316059;SAVANT_GENE=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91" target="_blank">ZFP91</a>;SAVANT_INFO=+/41.9kb/11/5.2kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.988-16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFP91+c.988-16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58381686">View</a>	GT:AD:DP:GQ:PL:TP	1|0:79,74:153:99:1960,0,2316:127	0|0:196,0:196:99:0,588,6706:127	1|0:56,50:106:99:1404,0,1611:127
11	58386177	.	G	A	9790.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=471;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs3168135;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3168135" target="_blank">rs3168135</a>;ExAC.Info.AC=4556;ExAC.Info.AN=20916;ExAC.Info.AF=0.218;ExAC.Info.AC_Het=3128;ExAC.Info.AC_Hom=584;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.1575+1136G>A;snpeff.Gene_Name=ZFP91-CNTF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=nonsense_mediated_decay;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000389919;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=998;snpeff.Amino_Acid_Change=c.*998G>A;snpeff.Amino_Acid_length=570;snpeff.Gene_Name=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91-CNTF" target="_blank">ZFP91-CNTF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000316059;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000316059;SAVANT_GENE=ZFP91;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZFP91" target="_blank">ZFP91</a>;SAVANT_INFO=+/41.9kb/11/5.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*998G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZFP91+c.*998G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58386177">View</a>	GT:AD:DP:GQ:PL:TP	1|0:70,74:144:99:1872,0,2060:127	0|0:173,0:173:99:0,520,6058:127	1|0:83,71:154:99:1981,0,2528:127
11	58478026	.	G	A	14503.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=295;MQ=69.91;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs675423;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=675423" target="_blank">rs675423</a>;ExAC.Info.AC=94330;ExAC.Info.AN=126674;ExAC.Info.AF=0.745;ExAC.Info.AC_Het=22372;ExAC.Info.AC_Hom=35850;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.488+37C>T;snpeff.Amino_Acid_length=296;snpeff.Gene_Name=GLYAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYAT" target="_blank">GLYAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529732;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344743;SAVANT_GENE=GLYAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYAT" target="_blank">GLYAT</a>;SAVANT_INFO=-/22.9kb/6/1.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.488+37C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLYAT+c.488+37C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58478026">View</a>	GT:AD:DP:GQ:PL:TP	0|1:55,39:94:99:1107,0,1688:127	1|1:0,108:108:99:3645,324,0:127	0|1:40,53:93:99:1513,0,1098:127
11	58478039	.	T	C	16345.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=329;MQ=69.92;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs675757;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=675757" target="_blank">rs675757</a>;ExAC.Info.AC=94348;ExAC.Info.AN=126680;ExAC.Info.AF=0.745;ExAC.Info.AC_Het=22381;ExAC.Info.AC_Hom=35902;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.488+24A>G;snpeff.Amino_Acid_length=296;snpeff.Gene_Name=GLYAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYAT" target="_blank">GLYAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529732;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344743;SAVANT_GENE=GLYAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYAT" target="_blank">GLYAT</a>;SAVANT_INFO=-/22.9kb/6/1.7kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.488+24A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLYAT+c.488+24A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58478039">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,45:108:99:1264,0,1621:127	1|1:0,121:121:99:4064,363,0:127	0|1:44,56:100:99:1712,0,1120:127
11	58478084	.	T	C	40342.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=464;MQ=69.95;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs675815;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=675815" target="_blank">rs675815</a>;hgmd_2014.2.CLASS=FP;hgmd_2014.2.PHEN=Increased_activity;hgmd_2014.2.OMIM_ID=607424;hgmd_2014.2.PubMed=23237781;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23237781" target="_blank">23237781</a>;ExAC.Info.AC=120443;ExAC.Info.AN=126700;ExAC.Info.AF=0.951;ExAC.Info.AC_Het=5474;ExAC.Info.AC_Hom=57446;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAt/aGt;snpeff.Amino_Acid_Change=p.Asn156Ser/c.467A>G;snpeff.Amino_Acid_length=296;snpeff.Gene_Name=GLYAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYAT" target="_blank">GLYAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529732;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344743;SAVANT_GENE=GLYAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYAT" target="_blank">GLYAT</a>;SAVANT_INFO=-/22.9kb/6/1.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.467A>G_p.Asn156Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLYAT+c.467A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58478084">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,147:147:99:5256,441,0:127	1|1:0,169:169:99:6107,507,0:127	1|1:0,148:148:99:5354,448,0:127
11	58491921	.	A	T	5181.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=240;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10896818;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10896818" target="_blank">rs10896818</a>;ExAC.Info.AC=24573;ExAC.Info.AN=126688;ExAC.Info.AF=0.194;ExAC.Info.AC_Het=19009;ExAC.Info.AC_Hom=2763;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Tcc/Acc;snpeff.Amino_Acid_Change=p.Ser17Thr/c.49T>A;snpeff.Amino_Acid_length=296;snpeff.Gene_Name=GLYAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYAT" target="_blank">GLYAT</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529732;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000344743;SAVANT_GENE=GLYAT;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYAT" target="_blank">GLYAT</a>;SAVANT_INFO=-/22.9kb/6/1.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.49T>A_p.Ser17Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLYAT+c.49T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58491921">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,39:78:99:1076,0,1031:127	0|0:81,0:81:99:0,243,2781:127	1|0:48,33:81:99:878,0,1376:127
11	58602309	.	C	T	4447.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=248;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11229651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229651" target="_blank">rs11229651</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=34126;ExAC.Info.AN=125552;ExAC.Info.AF=0.272;ExAC.Info.AC_Het=22744;ExAC.Info.AC_Hom=5201;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.478G>A;snpeff.Amino_Acid_length=294;snpeff.Gene_Name=GLYATL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYATL2" target="_blank">GLYATL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532258;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gaa/Aaa;snpeff.Amino_Acid_Change=p.Glu160Lys/c.478G>A;snpeff.Amino_Acid_length=294;snpeff.Gene_Name=GLYATL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYATL2" target="_blank">GLYATL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532258;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287275;SAVANT_GENE=GLYATL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYATL2" target="_blank">GLYATL2</a>;SAVANT_INFO=-/10.7kb/6/1.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.478G>A_p.Glu160Lys;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLYATL2+c.478G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58602309">View</a>	GT:AD:DP:GQ:PL:TP	1|0:37,28:65:99:655,0,1141:127	0|0:94,0:94:99:0,282,3195:127	1|0:50,39:89:99:1009,0,1436:127
11	58604712	.	T	C	10127.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=488;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11229653;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11229653" target="_blank">rs11229653</a>;ExAC.Info.AC=34482;ExAC.Info.AN=125124;ExAC.Info.AF=0.276;ExAC.Info.AC_Het=23421;ExAC.Info.AC_Hom=5513;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.313+32A>G;snpeff.Amino_Acid_length=294;snpeff.Gene_Name=GLYATL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYATL2" target="_blank">GLYATL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532258;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287275;SAVANT_GENE=GLYATL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYATL2" target="_blank">GLYATL2</a>;SAVANT_INFO=-/10.7kb/6/1.6kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.313+32A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLYATL2+c.313+32A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58604712">View</a>	GT:AD:DP:GQ:PL:TP	1|0:77,73:150:99:1874,0,1976:127	0|0:183,0:183:99:0,549,6096:127	1|0:75,80:155:99:2026,0,2032:127
11	58604806	.	T	A	2198.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=232;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs76354468;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=76354468" target="_blank">rs76354468</a>;ExAC.Info.AC=2819;ExAC.Info.AN=125208;ExAC.Info.AF=0.023;ExAC.Info.AC_Het=2713;ExAC.Info.AC_Hom=53;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aAa/aTa;snpeff.Amino_Acid_Change=p.Lys84Ile/c.251A>T;snpeff.Amino_Acid_length=294;snpeff.Gene_Name=GLYATL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYATL2" target="_blank">GLYATL2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000532258;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000287275;SAVANT_GENE=GLYATL2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYATL2" target="_blank">GLYATL2</a>;SAVANT_INFO=-/10.7kb/6/1.6kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.251A>T_p.Lys84Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GLYATL2+c.251A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58604806">View</a>	GT:AD:DP:GQ:PL:TP	0|0:66,0:66:99:0,198,2382:127	0|1:49,37:86:99:1118,0,1516:127	0|0:80,0:80:99:0,241,3014:127
11	58674690	.	GTC	G	372.01	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=158;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs141204903;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=141204903" target="_blank">rs141204903</a>;ExAC.Info.AC=1293;ExAC.Info.AN=17116;ExAC.Info.AF=0.076;ExAC.Info.AC_Het=1225;ExAC.Info.AC_Hom=0;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=GLYATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYATL1" target="_blank">GLYATL1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.218-23_218-22delTC;snpeff.Amino_Acid_length=123;snpeff.Gene_Name=AP001652.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLYATL1" target="_blank">GLYATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000454512;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000454512;SAVANT_GENE=AP001652.1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0016521" target="_blank">AP0016521</a>;SAVANT_INFO=+/3.2kb/2/1.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.218-12_218-11delCT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP0016521+c.218-12_218-11delCT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58674690">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,3:57:53:0,53,1914:21	0|1:60,9:69:99:99,0,2104:21	0|1:29,3:32:21:21,0,945:21
11	58962910	.	TA	T	3135.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs3841744;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3841744" target="_blank">rs3841744</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1536+69delA;snpeff.Amino_Acid_length=619;snpeff.Gene_Name=DTX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTX4" target="_blank">DTX4</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227451;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000227451;SAVANT_GENE=DTX4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DTX4" target="_blank">DTX4</a>;SAVANT_INFO=+/36.1kb/9/5.6kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1536+73delA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=DTX4+c.1536+73delA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:58962910">View</a>	GT:AD:DP:GQ:PL:TP	0|1:13,25:38:99:689,0,309:87	1|0:25,25:50:99:653,0,664:87	0|0:29,0:29:87:0,87,937:87
11	59056153	.	C	T	19464.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=240;MQ=67.36;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs1894123;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1894123" target="_blank">rs1894123</a>;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.807G>A;snpeff.Gene_Name=RP11-1036E20.7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1036E207" target="_blank">RP11-1036E207</a>;snpeff.Transcript_BioType=processed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000532980;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-1036E207" target="_blank">RP11-1036E207</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RP11-1036E207+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59056153">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,67:67:99:2244,201,0:127	1|1:0,100:100:99:3350,300,0:127	1|1:0,73:73:99:2449,219,0:127
11	59132798	.	G	C	30564.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=349;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7941190;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7941190" target="_blank">rs7941190</a>;ExAC.Info.AC=87063;ExAC.Info.AN=126666;ExAC.Info.AF=0.687;ExAC.Info.AC_Het=26481;ExAC.Info.AC_Hom=30202;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867G>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5AN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AN1" target="_blank">OR5AN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313940;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=ttG/ttC;snpeff.Amino_Acid_Change=p.Leu289Phe/c.867G>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5AN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AN1" target="_blank">OR5AN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313940;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313940;SAVANT_GENE=OR5AN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AN1" target="_blank">OR5AN1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.867G>C_p.Leu289Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5AN1+c.867G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59132798">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,111:111:99:4185,334,0:127	1|1:0,117:117:99:4617,352,0:127	1|1:0,121:121:99:4498,364,0:127
11	59132882	.	A	G	24024.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=300;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10896964;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10896964" target="_blank">rs10896964</a>;ExAC.Info.AC=86683;ExAC.Info.AN=125810;ExAC.Info.AF=0.689;ExAC.Info.AC_Het=23813;ExAC.Info.AC_Hom=27396;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=15;snpeff.Amino_Acid_Change=c.*15A>G;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR5AN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AN1" target="_blank">OR5AN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313940;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313940;SAVANT_GENE=OR5AN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5AN1" target="_blank">OR5AN1</a>;SAVANT_INFO=+/1.0kb/1/1.0kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*15A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5AN1+c.*15A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59132882">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,102:102:99:3321,306,0:127	1|1:0,102:102:99:3554,307,0:127	1|1:0,96:96:99:3338,289,0:127
11	59211188	.	G	A	24659.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=371;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6591536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6591536" target="_blank">rs6591536</a>;ExAC.Info.AC=83632;ExAC.Info.AN=126698;ExAC.Info.AF=0.660;ExAC.Info.AC_Het=27462;ExAC.Info.AC_Hom=28072;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.547G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5A1" target="_blank">OR5A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.547G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5A1" target="_blank">OR5A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gac/Aac;snpeff.Amino_Acid_Change=p.Asp183Asn/c.547G>A;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5A1" target="_blank">OR5A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302030;SAVANT_GENE=OR5A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5A1" target="_blank">OR5A1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.547G>A_p.Asp183Asn;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5A1+c.547G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59211188">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,118:118:99:3965,354,0:127	1|0:74,64:138:99:1861,0,2112:127	1|1:0,115:115:99:3908,346,0:127
11	59211265	.	T	C	22102.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=332;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs7941591;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7941591" target="_blank">rs7941591</a>;ExAC.Info.AC=83639;ExAC.Info.AN=126704;ExAC.Info.AF=0.660;ExAC.Info.AC_Het=27465;ExAC.Info.AC_Hom=28084;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.624T>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5A1" target="_blank">OR5A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr208Thr/c.624T>C;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5A1" target="_blank">OR5A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302030;SAVANT_GENE=OR5A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5A1" target="_blank">OR5A1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.624T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5A1+c.624T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59211265">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,101:101:99:3522,304,0:127	1|0:76,57:133:99:1580,0,2388:127	1|1:0,98:98:99:3377,295,0:127
11	59211325	.	C	T	2384.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs72923336;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72923336" target="_blank">rs72923336</a>;ExAC.Info.AC=1053;ExAC.Info.AN=126704;ExAC.Info.AF=8.311e-03;ExAC.Info.AC_Het=1041;ExAC.Info.AC_Hom=6;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.684C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5A1" target="_blank">OR5A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val228Val/c.684C>T;snpeff.Amino_Acid_length=315;snpeff.Gene_Name=OR5A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5A1" target="_blank">OR5A1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000302030;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000302030;SAVANT_GENE=OR5A1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5A1" target="_blank">OR5A1</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.684C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR5A1+c.684C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59211325">View</a>	GT:AD:DP:GQ:PL:TP	0|0:81,0:81:99:0,243,2908:127	0|1:57,43:100:99:1211,0,1783:127	0|0:71,0:71:99:0,213,2616:127
11	59224720	.	A	G	40571.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=464;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1453543;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1453543" target="_blank">rs1453543</a>;ExAC.Info.AC=120320;ExAC.Info.AN=126696;ExAC.Info.AF=0.950;ExAC.Info.AC_Het=5308;ExAC.Info.AC_Hom=57434;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.287A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAc/gGc;snpeff.Amino_Acid_Change=p.Asp96Gly/c.287A>G;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300127;SAVANT_GENE=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.287A>G_p.Asp96Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4D6+c.287A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59224720">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,130:130:99:4756,391,0:127	1|1:0,186:186:99:7474,559,0:127	1|1:0,148:148:99:5160,445,0:127
11	59224738	.	T	C	5486.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=448;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17153770;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17153770" target="_blank">rs17153770</a>;ExAC.Info.AC=4404;ExAC.Info.AN=126700;ExAC.Info.AF=0.035;ExAC.Info.AC_Het=3623;ExAC.Info.AC_Hom=389;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.305T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTt/tCt;snpeff.Amino_Acid_Change=p.Phe102Ser/c.305T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300127;SAVANT_GENE=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.305T>C_p.Phe102Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4D6+c.305T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59224738">View</a>	GT:AD:DP:GQ:PL:TP	0|0:124,0:124:99:0,375,4202:127	0|1:87,89:176:99:2762,0,2537:127	0|0:148,0:148:99:0,445,4960:127
11	59224765	.	A	C	8080.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=394;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs17500380;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17500380" target="_blank">rs17500380</a>;ExAC.Info.AC=5457;ExAC.Info.AN=126694;ExAC.Info.AF=0.043;ExAC.Info.AC_Het=5083;ExAC.Info.AC_Hom=178;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332A>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.332A>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gAt/gCt;snpeff.Amino_Acid_Change=p.Asp111Ala/c.332A>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300127;SAVANT_GENE=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.332A>C_p.Asp111Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4D6+c.332A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59224765">View</a>	GT:AD:DP:GQ:PL:TP	1|0:65,45:110:99:1307,0,1773:127	0|0:150,0:150:99:0,450,5095:127	1|0:66,68:134:99:1965,0,1845:127
11	59225129	.	GC	G	3043.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=301;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs77048571;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=77048571" target="_blank">rs77048571</a>;ExAC.Info.AC=2607;ExAC.Info.AN=126698;ExAC.Info.AF=0.021;ExAC.Info.AC_Het=2461;ExAC.Info.AC_Hom=73;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.697delC;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=cgg/;snpeff.Amino_Acid_Change=p.Arg233fs/c.697delC;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;LOF=(OR4D6|ENSG00000166884|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000300127;SAVANT_GENE=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.697delC;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4D6+c.697delC+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59225129">View</a>	GT:AD:DP:GQ:PL:TP	0|0:98,0:98:99:0,295,3959:127	0|1:62,48:110:99:1545,0,2163:127	0|0:93,0:93:99:0,280,3738:127
11	59225221	.	T	C	3401.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=475;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs1453541;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1453541" target="_blank">rs1453541</a>;ExAC.Info.AC=36980;ExAC.Info.AN=126704;ExAC.Info.AF=0.292;ExAC.Info.AC_Het=25601;ExAC.Info.AC_Hom=5688;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.788T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aTg/aCg;snpeff.Amino_Acid_Change=p.Met263Thr/c.788T>C;snpeff.Amino_Acid_length=314;snpeff.Gene_Name=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300127;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300127;SAVANT_GENE=OR4D6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D6" target="_blank">OR4D6</a>;SAVANT_INFO=+/1.1kb/1/1.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.788T>C_p.Met263Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4D6+c.788T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59225221">View</a>	GT:AD:DP:GQ:PL:TP	0|0:168,0:168:99:0,505,5603:127	0|1:103,62:165:99:1718,0,2938:127	0|0:142,0:142:99:0,427,4771:127
11	59271637	.	T	C	8559.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=380;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7120079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7120079" target="_blank">rs7120079</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=37471;ExAC.Info.AN=126704;ExAC.Info.AF=0.296;ExAC.Info.AC_Het=25706;ExAC.Info.AC_Hom=5881;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.589T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR4D11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D11" target="_blank">OR4D11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Ttc/Ctc;snpeff.Amino_Acid_Change=p.Phe197Leu/c.589T>C;snpeff.Amino_Acid_length=311;snpeff.Gene_Name=OR4D11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D11" target="_blank">OR4D11</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313253;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313253;SAVANT_GENE=OR4D11;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR4D11" target="_blank">OR4D11</a>;SAVANT_INFO=+/0.9kb/1/0.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.589T>C_p.Phe197Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR4D11+c.589T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59271637">View</a>	GT:AD:DP:GQ:PL:TP	1|0:63,73:136:99:1973,0,1556:127	0|0:143,0:143:99:0,429,4545:127	1|0:50,51:101:99:1314,0,1352:127
11	59368218	.	CA	C	2239.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=345;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs367608218;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=367608218" target="_blank">rs367608218</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1179+73delT;snpeff.Amino_Acid_length=807;snpeff.Gene_Name=OSBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBP" target="_blank">OSBP</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000263847;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000263847;SAVANT_GENE=OSBP;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBP" target="_blank">OSBP</a>;SAVANT_INFO=-/41.7kb/14/5.1kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1179+73delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=OSBP+c.1179+73delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59368218">View</a>	GT:AD:DP:GQ:PL:TP	0/1:75,23:98:99:263,0,1322:127	0/1:105,33:138:99:354,0,1731:127	0/1:79,30:109:99:381,0,1403:127
11	59419124	.	CA	C	494.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=92;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1427-11delT;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Involved_in_nuclear_spleckles_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Involved_in_nuclear_spleckles_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Involved_in_nuclear_spleckles_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Involved_in_nuclear_spleckles_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Involved_in_nuclear_spleckles_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Involved_in_nuclear_spleckles_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Involved_in_nuclear_spleckles_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Involved_in_nuclear_spleckles_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Involved_in_nuclear_spleckles_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Involved_in_nuclear_spleckles_localization];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Region_C];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1427delA;snpeff.Amino_Acid_length=770;snpeff.Gene_Name=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300146;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000300146;SAVANT_GENE=PATL1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PATL1" target="_blank">PATL1</a>;SAVANT_INFO=-/32.3kb/19/4.1kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1427-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=PATL1+c.1427-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59419124">View</a>	GT:AD:DP:GQ:PL:TP	0/1:26,6:32:62:62,0,514:42	0/1:30,7:37:73:73,0,632:42	0/1:18,5:23:43:43,0,361:42
11	59480951	.	T	C	22575.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=265;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs499033;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=499033" target="_blank">rs499033</a>;ExAC.Info.AC=118720;ExAC.Info.AN=126676;ExAC.Info.AF=0.937;ExAC.Info.AC_Het=7220;ExAC.Info.AC_Hom=55225;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR10V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307552;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.368T>C;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR10V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307552;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAg/cGg;snpeff.Amino_Acid_Change=p.Gln123Arg/c.368A>G;snpeff.Amino_Acid_length=309;snpeff.Gene_Name=OR10V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000307552;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000307552;SAVANT_GENE=OR10V1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10V1" target="_blank">OR10V1</a>;SAVANT_INFO=-/1.0kb/1/1.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.368A>G_p.Gln123Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10V1+c.368A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59480951">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,79:79:99:2647,237,0:127	1|1:0,99:99:99:3483,297,0:127	1|1:0,87:87:99:3077,262,0:127
11	59516411	.	G	T	4950.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=222;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs11230067;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11230067" target="_blank">rs11230067</a>;ExAC.Info.AC=1211;ExAC.Info.AN=22144;ExAC.Info.AF=0.055;ExAC.Info.AC_Het=785;ExAC.Info.AC_Hom=53;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.128G>T;snpeff.Gene_Name=OR10V2P;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10V2P" target="_blank">OR10V2P</a>;snpeff.Transcript_BioType=unprocessed_pseudogene;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000525296;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10V2P" target="_blank">OR10V2P</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR10V2P" target="_blank">OR10V2P</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=OR10V2P+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59516411">View</a>	GT:AD:DP:GQ:PL:TP	1|0:29,32:61:99:849,0,792:127	0|0:80,0:80:99:0,239,2743:127	1|0:37,44:81:99:1237,0,1053:127
11	59558128	.	AT	A	247.42	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=68;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs370918929;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=370918929" target="_blank">rs370918929</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.357+70delT;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337979;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358delT;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337979;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358delT;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337979;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358delT;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337979;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358delT;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337979;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358delT;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337979;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358delT;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337979;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358delT;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337979;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358delT;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337979;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358delT;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337979;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.358delT;snpeff.Amino_Acid_length=289;snpeff.Gene_Name=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337979;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000337979;SAVANT_GENE=STX3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=STX3" target="_blank">STX3</a>;SAVANT_INFO=+/47.6kb/11/3.3kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.357+81delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=STX3+c.357+81delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59558128">View</a>	GT:AD:DP:GQ:PL:TP	0/1:9,5:14:96:96,0,199:16	0/1:27,5:32:38:38,0,627:16	0/1:19,3:22:16:16,0,442:16
11	59623433	.	G	A	11741.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=631;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1042613;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1042613" target="_blank">rs1042613</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=30694;ExAC.Info.AN=126704;ExAC.Info.AF=0.242;ExAC.Info.AC_Het=22174;ExAC.Info.AC_Hom=4258;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.846G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=TCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCN1" target="_blank">TCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257264;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.846G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=TCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCN1" target="_blank">TCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257264;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.846G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=TCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCN1" target="_blank">TCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257264;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.846G>A;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=TCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCN1" target="_blank">TCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257264;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=agC/agT;snpeff.Amino_Acid_Change=p.Ser282Ser/c.846C>T;snpeff.Amino_Acid_length=433;snpeff.Gene_Name=TCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCN1" target="_blank">TCN1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257264;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257264;SAVANT_GENE=TCN1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCN1" target="_blank">TCN1</a>;SAVANT_INFO=-/13.8kb/9/1.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.846C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TCN1+c.846C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59623433">View</a>	GT:AD:DP:GQ:PL:TP	1|0:115,87:202:99:2139,0,3265:127	0|0:244,0:244:99:0,733,8989:127	1|0:91,94:185:99:2587,0,2693:127
11	59814173	.	G	A	18786.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=512;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2276043;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2276043" target="_blank">rs2276043</a>;ExAC.Info.AC=12593;ExAC.Info.AN=84642;ExAC.Info.AF=0.149;ExAC.Info.AC_Het=3102;ExAC.Info.AC_Hom=507;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.348-244G>A;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=PLAC1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLAC1L" target="_blank">PLAC1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278855;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278855;SAVANT_GENE=PLAC1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLAC1L" target="_blank">PLAC1L</a>;SAVANT_INFO=+/7.8kb/4/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.348-244G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLAC1L+c.348-244G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59814173">View</a>	GT:AD:DP:GQ:PL:TP	0/1:77,82:159:99:2270,0,2239:127	0/1:94,91:185:99:2785,0,2666:127	0/1:79,89:168:99:2559,0,2197:127
11	59814287	.	A	G	15696.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=482;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2276044;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2276044" target="_blank">rs2276044</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.348-130A>G;snpeff.Amino_Acid_length=158;snpeff.Gene_Name=PLAC1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLAC1L" target="_blank">PLAC1L</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278855;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278855;SAVANT_GENE=PLAC1L;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLAC1L" target="_blank">PLAC1L</a>;SAVANT_INFO=+/7.8kb/4/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.348-130A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PLAC1L+c.348-130A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59814287">View</a>	GT:AD:DP:GQ:PL:TP	0/1:71,80:151:99:2336,0,2002:127	0/1:82,85:167:99:2677,0,2268:127	0/1:88,76:164:99:2049,0,2391:127
11	59830103	.	A	G	27096.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs481950;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=481950" target="_blank">rs481950</a>;ExAC.Info.AC=78200;ExAC.Info.AN=126686;ExAC.Info.AF=0.617;ExAC.Info.AC_Het=28647;ExAC.Info.AC_Hom=24751;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.294+25A>G;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278865;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295A>G;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278865;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295A>G;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278865;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278865;SAVANT_GENE=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;SAVANT_INFO=+/14.4kb/7/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.294+25A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A3+c.294+25A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59830103">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3487,312,0:127	1|1:0,123:123:99:4266,370,0:127	1|1:0,113:113:99:4087,339,0:127
11	59831716	.	C	A	6061.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs1151065;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1151065" target="_blank">rs1151065</a>;ExAC.Info.AC=36161;ExAC.Info.AN=126690;ExAC.Info.AF=0.285;ExAC.Info.AC_Het=24528;ExAC.Info.AC_Hom=5697;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.295-19C>A;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278865;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295C>A;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278865;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.295C>A;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278865;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278865;SAVANT_GENE=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;SAVANT_INFO=+/14.4kb/7/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.295-19C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A3+c.295-19C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59831716">View</a>	GT:AD:DP:GQ:PL:TP	1|0:41,38:79:99:1016,0,1315:127	0|0:111,0:111:99:0,334,4080:127	1|0:42,54:96:99:1521,0,1301:127
11	59837097	.	C	T	9084.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=524;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs528823;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=528823" target="_blank">rs528823</a>;ExAC.Info.AC=36401;ExAC.Info.AN=126696;ExAC.Info.AF=0.287;ExAC.Info.AC_Het=24715;ExAC.Info.AC_Hom=5838;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.564C>T;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278865;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr188Thr/c.564C>T;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278865;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278865;SAVANT_GENE=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;SAVANT_INFO=+/14.4kb/7/1.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.564C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A3+c.564C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59837097">View</a>	GT:AD:DP:GQ:PL:TP	1|0:94,59:153:99:1259,0,2797:127	0|0:197,0:197:99:0,592,6884:127	1|0:91,83:174:99:2205,0,2610:127
11	59837721	.	T	TTATGAAAA	9043.98	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=326;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs144234019;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144234019" target="_blank">rs144234019</a>;ExAC.Info.AC=35810;ExAC.Info.AN=126674;ExAC.Info.AF=0.283;ExAC.Info.AC_Het=25021;ExAC.Info.AC_Hom=5220;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=16;snpeff.Amino_Acid_Change=c.*16_*17insTATGAAAA;snpeff.Amino_Acid_length=214;snpeff.Gene_Name=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278865;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000278865;SAVANT_GENE=MS4A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A3" target="_blank">MS4A3</a>;SAVANT_INFO=+/14.4kb/7/1.6kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*17_*18insTGAAAATA;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A3+c.*17_*18insTGAAAATA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59837721">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,45:100:99:2001,0,2143:127	0|0:124,0:124:99:0,374,5568:127	1|0:64,38:102:99:1627,0,2548:127
11	59940599	.	T	A	24400.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7232" target="_blank">rs7232</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Lung_cancer|_susceptibility_to|_association_with;hgmd_2014.2.OMIM_ID=606548;hgmd_2014.2.PubMed=16741161;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16741161" target="_blank">16741161</a>;ExAC.Info.AC=39499;ExAC.Info.AN=126704;ExAC.Info.AF=0.312;ExAC.Info.AC_Het=25164;ExAC.Info.AC_Hom=7164;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Act/Tct;snpeff.Amino_Acid_Change=p.Thr213Ser/c.637A>T;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=MS4A6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6A" target="_blank">MS4A6A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529054;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323961;SAVANT_GENE=MS4A6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6A" target="_blank">MS4A6A</a>;SAVANT_INFO=-/11.6kb/7/1.5kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.553A>T_p.Thr185Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A6A+c.553A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59940599">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:3538,321,0:127	1|0:68,65:133:99:1808,0,2004:127	1|1:0,127:127:99:4292,381,0:127
11	59945745	.	T	C	23515.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=370;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs12453;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12453" target="_blank">rs12453</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=45362;ExAC.Info.AN=126702;ExAC.Info.AF=0.358;ExAC.Info.AC_Het=27722;ExAC.Info.AC_Hom=8811;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ttA/ttG;snpeff.Amino_Acid_Change=p.Leu137Leu/c.411A>G;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=MS4A6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6A" target="_blank">MS4A6A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529054;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323961;SAVANT_GENE=MS4A6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6A" target="_blank">MS4A6A</a>;SAVANT_INFO=-/11.6kb/7/1.5kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.327A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A6A+c.327A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59945745">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,112:112:99:3857,336,0:127	1|0:67,76:143:99:2181,0,1756:127	1|1:0,115:115:99:3933,345,0:127
11	59946302	.	C	T	35417.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=369;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs598862;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=598862" target="_blank">rs598862</a>;ExAC.Info.AC=12278;ExAC.Info.AN=13318;ExAC.Info.AF=0.922;ExAC.Info.AC_Het=748;ExAC.Info.AC_Hom=4993;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.367-513G>A;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=MS4A6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6A" target="_blank">MS4A6A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529054;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323961;SAVANT_GENE=MS4A6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6A" target="_blank">MS4A6A</a>;SAVANT_INFO=-/11.6kb/7/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.283-513G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A6A+c.283-513G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59946302">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,121:121:99:5309,373,0:127	1|1:0,151:151:99:5890,457,0:127	1|1:0,97:97:99:4231,295,0:127
11	59946310	.	CA	C	15353.71	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=318;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs5792172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=5792172" target="_blank">rs5792172</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.367-522delT;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=MS4A6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6A" target="_blank">MS4A6A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529054;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000323961;SAVANT_GENE=MS4A6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6A" target="_blank">MS4A6A</a>;SAVANT_INFO=-/11.6kb/7/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.283-522delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A6A+c.283-522delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59946310">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,107:107:99:2971,321,0:127	1|0:65,65:130:99:1402,0,1438:127	1|1:1,80:81:99:2175,215,0:127
11	59947252	.	C	T	2536.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=207;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs583791;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=583791" target="_blank">rs583791</a>;ExAC.Info.AC=73492;ExAC.Info.AN=126696;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=29678;ExAC.Info.AC_Hom=21777;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.366+52G>A;snpeff.Amino_Acid_length=276;snpeff.Gene_Name=MS4A6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6A" target="_blank">MS4A6A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000529054;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000323961;SAVANT_GENE=MS4A6A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6A" target="_blank">MS4A6A</a>;SAVANT_INFO=-/11.6kb/7/1.5kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.282+52G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A6A+c.282+52G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59947252">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,1:68:99:0,170,2459:127	0|1:37,46:83:99:1287,0,1162:127	0|0:56,0:56:99:0,168,1929:127
11	59997335	.	T	C	42261.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=496;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs608659;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=608659" target="_blank">rs608659</a>;ExAC.Info.AC=112284;ExAC.Info.AN=112460;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=15;ExAC.Info.AC_Hom=17122;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.71+50A>G;snpeff.Amino_Acid_length=204;snpeff.Gene_Name=MS4A4E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4E" target="_blank">MS4A4E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000427611;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000427611;SAVANT_GENE=MS4A4E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4E" target="_blank">MS4A4E</a>;SAVANT_INFO=-/41.8kb/6/1.1kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.71+50A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A4E+c.71+50A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:59997335">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:5180,445,0:127	1|1:0,191:191:99:6527,573,0:127	1|1:0,157:157:99:5545,472,0:127
11	60050125	.	A	G	17616.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=365;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs10792260;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10792260" target="_blank">rs10792260</a>;ExAC.Info.AC=6985;ExAC.Info.AN=13790;ExAC.Info.AF=0.507;ExAC.Info.AC_Het=2799;ExAC.Info.AC_Hom=1616;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.41+1936A>G;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337908;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.42A>G;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337908;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.42A>G;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337908;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337908;SAVANT_GENE=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;SAVANT_INFO=+/28.4kb/7/1.6kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.41+1936A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A4A+c.41+1936A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60050125">View</a>	GT:AD:DP:GQ:PL:TP	0|1:63,66:129:99:1928,0,1672:127	1|1:0,130:130:99:4779,391,0:127	0|1:53,53:106:99:1706,0,1528:127
11	60073597	.	C	T	27518.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=328;MQ=69.99;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4644658;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4644658" target="_blank">rs4644658</a>;ExAC.Info.AC=123053;ExAC.Info.AN=126698;ExAC.Info.AF=0.971;ExAC.Info.AC_Het=3229;ExAC.Info.AC_Hom=59901;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571C>T;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337908;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.571C>T;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337908;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=Cta/Tta;snpeff.Amino_Acid_Change=p.Leu191Leu/c.571C>T;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337908;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337908;SAVANT_GENE=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;SAVANT_INFO=+/28.4kb/7/1.6kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.571C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A4A+c.571C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60073597">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,85:85:99:2981,255,0:127	1|1:0,135:135:99:4871,406,0:127	1|1:0,108:108:99:3866,325,0:127
11	60073702	.	A	T	32868.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=415;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3018806;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3018806" target="_blank">rs3018806</a>;ExAC.Info.AC=126702;ExAC.Info.AN=126702;ExAC.Info.AF=1.00;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=63337;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.648+28A>T;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337908;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.649A>T;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337908;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.649A>T;snpeff.Amino_Acid_length=239;snpeff.Gene_Name=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000337908;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000337908;SAVANT_GENE=MS4A4A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A4A" target="_blank">MS4A4A</a>;SAVANT_INFO=+/28.4kb/7/1.6kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.648+28A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A4A+c.648+28A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60073702">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,115:115:99:3618,345,0:127	1|1:0,162:162:99:5433,487,0:127	1|1:0,138:138:99:4601,415,0:127
11	60102507	.	G	T	2374.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2304933;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2304933" target="_blank">rs2304933</a>;hgmd_2014.2.CLASS=DP;hgmd_2014.2.PHEN=Alzheimer_disease|_association_with;hgmd_2014.2.OMIM_ID=608402;hgmd_2014.2.PubMed=21460840;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=21460840" target="_blank">21460840</a>;ExAC.Info.AC=40817;ExAC.Info.AN=126702;ExAC.Info.AF=0.322;ExAC.Info.AC_Het=25959;ExAC.Info.AC_Hom=7406;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.139G>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6E" target="_blank">MS4A6E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300182;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.139G>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6E" target="_blank">MS4A6E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300182;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtt/Ttt;snpeff.Amino_Acid_Change=p.Val47Phe/c.139G>T;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6E" target="_blank">MS4A6E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300182;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300182;SAVANT_GENE=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6E" target="_blank">MS4A6E</a>;SAVANT_INFO=+/6.1kb/4/0.7kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.139G>T_p.Val47Phe;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A6E+c.139G>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60102507">View</a>	GT:AD:DP:GQ:PL:TP	0|0:69,0:69:99:0,210,2434:127	0|1:33,41:74:99:1206,0,985:127	0|0:70,0:70:99:0,210,2546:127
11	60107290	.	A	G	27303.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=395;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs17533331;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17533331" target="_blank">rs17533331</a>;ExAC.Info.AC=17759;ExAC.Info.AN=126702;ExAC.Info.AF=0.140;ExAC.Info.AC_Het=14440;ExAC.Info.AC_Hom=1651;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.355-49A>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6E" target="_blank">MS4A6E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300182;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6E" target="_blank">MS4A6E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300182;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.355A>G;snpeff.Amino_Acid_length=147;snpeff.Gene_Name=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6E" target="_blank">MS4A6E</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300182;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300182;SAVANT_GENE=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A6E" target="_blank">MS4A6E</a>;SAVANT_INFO=+/6.1kb/4/0.7kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.355-49A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A6E+c.355-49A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60107290">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:3524,327,0:127	1|0:79,74:153:99:2247,0,2357:127	1|1:0,133:133:99:4729,399,0:127
11	60152563	.	T	A	24666.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=313;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs950803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=950803" target="_blank">rs950803</a>;ExAC.Info.AC=80882;ExAC.Info.AN=126704;ExAC.Info.AF=0.638;ExAC.Info.AC_Het=28775;ExAC.Info.AC_Hom=26036;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.150T>A;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.150T>A;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acA;snpeff.Amino_Acid_Change=p.Thr50Thr/c.150T>A;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.150T>A;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300184;SAVANT_GENE=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A7" target="_blank">MS4A7</a>;SAVANT_INFO=+/16.3kb/7/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.150T>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SCSS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A7+c.150T>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60152563">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,99:99:99:3323,297,0:127	1|1:0,114:114:99:3861,342,0:127	1|1:0,100:100:99:3613,300,0:127
11	60152584	.	G	A	17837.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=308;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs950802;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=950802" target="_blank">rs950802</a>;ExAC.Info.AC=44504;ExAC.Info.AN=126704;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=28150;ExAC.Info.AC_Hom=8172;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.171G>A;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.171G>A;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu57Leu/c.171G>A;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300184;SAVANT_GENE=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A7" target="_blank">MS4A7</a>;SAVANT_INFO=+/16.3kb/7/1.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.171G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A7+c.171G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60152584">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,88:88:99:2831,264,0:127	1|0:70,54:124:99:1359,0,1965:127	1|1:0,96:96:99:3205,288,0:127
11	60157107	.	T	G	42944.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=559;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2233252;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2233252" target="_blank">rs2233252</a>;ExAC.Info.AC=81923;ExAC.Info.AN=126660;ExAC.Info.AF=0.647;ExAC.Info.AC_Het=28598;ExAC.Info.AC_Hom=26506;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.546+38T>G;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.547T>G;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.547T>G;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300184;SAVANT_GENE=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A7" target="_blank">MS4A7</a>;SAVANT_INFO=+/16.3kb/7/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.546+38T>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A7+c.546+38T>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60157107">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,164:164:99:5348,492,0:127	1|1:0,218:218:99:7122,654,0:127	1|1:0,177:177:99:5949,531,0:127
11	60157166	.	C	T	28480.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=360;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2233253;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2233253" target="_blank">rs2233253</a>;ExAC.Info.AC=79980;ExAC.Info.AN=125676;ExAC.Info.AF=0.636;ExAC.Info.AC_Het=24089;ExAC.Info.AC_Hom=21885;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=MS4A6E;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.546+97C>T;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.547C>T;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.547C>T;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300184;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300184;SAVANT_GENE=MS4A7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A7" target="_blank">MS4A7</a>;SAVANT_INFO=+/16.3kb/7/1.9kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.546+97C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A7+c.546+97C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60157166">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,113:113:99:3970,340,0:127	1|1:0,131:131:99:4784,394,0:127	1|1:0,116:116:99:4075,349,0:127
11	60164204	.	G	A	18251.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=217;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2241920;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2241920" target="_blank">rs2241920</a>;ExAC.Info.AC=81671;ExAC.Info.AN=126634;ExAC.Info.AF=0.645;ExAC.Info.AC_Het=28328;ExAC.Info.AC_Hom=25862;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.138+15G>A;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531783;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300187;SAVANT_GENE=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;SAVANT_INFO=+/21.4kb/5/3.0kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.138+15G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A14+c.138+15G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60164204">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2018,180,0:127	1|1:0,93:93:99:3264,280,0:127	1|1:0,64:64:99:2374,193,0:127
11	60165352	.	ATT	A	76121.89	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=716;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3217518;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3217518" target="_blank">rs3217518</a>;cosmic68.Histology_subtype=myelodysplastic_syndrome;ExAC.Info.AC=80907;ExAC.Info.AN=126694;ExAC.Info.AF=0.639;ExAC.Info.AC_Het=28778;ExAC.Info.AC_Hom=25995;snpeff.Effect=frameshift_variant;snpeff.Effect_Impact=HIGH;snpeff.Codon_Change=att/;snpeff.Amino_Acid_Change=p.Ile56fs/c.167_168delTT;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531783;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;LOF=(MS4A14|ENSG00000166928|1|1.00);TYPE=Deletion;SAVANT_ENST=ENST00000300187;SAVANT_GENE=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;SAVANT_INFO=+/21.4kb/5/3.0kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.167_168delTT;SAVANT_EFFECT=FRAMESHIFT;SAVANT_IMPACT=HIGH;SAVANT_CLASS=FC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A14+c.167_168delTT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60165352">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,210:210:99:9311,632,0:127	1|1:0,296:296:99:13232,891,0:127	1|1:0,210:210:99:9372,632,0:127
11	60172087	.	C	T	34431.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=428;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs10750937;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10750937" target="_blank">rs10750937</a>;ExAC.Info.AC=12098;ExAC.Info.AN=20874;ExAC.Info.AF=0.580;ExAC.Info.AC_Het=4098;ExAC.Info.AC_Hom=3272;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.469-1275C>T;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531783;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300187;SAVANT_GENE=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;SAVANT_INFO=+/21.4kb/5/3.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.468+1553C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A14+c.468+1553C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60172087">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,124:124:99:4195,373,0:127	1|1:0,152:152:99:5041,456,0:127	1|1:0,152:152:99:5180,457,0:127
11	60173360	.	A	G	27175.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=346;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs4938941;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4938941" target="_blank">rs4938941</a>;ExAC.Info.AC=13219;ExAC.Info.AN=21840;ExAC.Info.AF=0.605;ExAC.Info.AC_Het=4630;ExAC.Info.AC_Hom=3880;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.469-2A>G;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531783;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.469A>G;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531783;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;LOF=(MS4A14|ENSG00000166928|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000300187;SAVANT_GENE=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;SAVANT_INFO=+/21.4kb/5/3.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.468+2826A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A14+c.468+2826A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60173360">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,95:95:99:3359,286,0:127	1|1:0,140:140:99:4855,421,0:127	1|1:0,111:111:99:3958,334,0:127
11	60182970	.	A	T	20892.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=294;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs7131283;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7131283" target="_blank">rs7131283</a>;ExAC.Info.AC=82021;ExAC.Info.AN=126682;ExAC.Info.AF=0.647;ExAC.Info.AC_Het=28029;ExAC.Info.AC_Hom=26928;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Aat/Tat;snpeff.Amino_Acid_Change=p.Asn210Tyr/c.628A>T;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531783;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300187;SAVANT_GENE=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;SAVANT_INFO=+/21.4kb/5/3.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.529A>T_p.Asn177Tyr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A14+c.529A>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60182970">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,104:104:99:3327,312,0:127	1|1:0,93:93:99:3158,280,0:127	1|1:0,97:97:99:3299,292,0:127
11	60184191	.	G	A	46528.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=582;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs3825020;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3825020" target="_blank">rs3825020</a>;ExAC.Info.AC=72373;ExAC.Info.AN=126678;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=29556;ExAC.Info.AC_Hom=21124;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gga/Aga;snpeff.Amino_Acid_Change=p.Gly617Arg/c.1849G>A;snpeff.Amino_Acid_length=712;snpeff.Gene_Name=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000531783;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300187;SAVANT_GENE=MS4A14;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A14" target="_blank">MS4A14</a>;SAVANT_INFO=+/21.4kb/5/3.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.1750G>A_p.Gly584Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A14+c.1750G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60184191">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,194:194:99:6566,583,0:127	1|1:0,208:208:99:7435,625,0:127	1|1:1,179:180:99:6339,531,0:127
11	60198328	.	C	T	11276.03	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=229;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs708229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=708229" target="_blank">rs708229</a>;ExAC.Info.AC=36574;ExAC.Info.AN=126700;ExAC.Info.AF=0.289;ExAC.Info.AC_Het=25225;ExAC.Info.AC_Hom=5672;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.213C>T;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acT;snpeff.Amino_Acid_Change=p.Thr71Thr/c.213C>T;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300190;SAVANT_GENE=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;SAVANT_INFO=+/18.2kb/5/0.7kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.213C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A5+c.213C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60198328">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,70:70:99:2483,210,0:127	1|0:32,44:76:99:1353,0,955:127	1|0:48,35:83:99:962,0,1448:127
11	60201232	.	T	C	4563.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=236;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs3763845;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3763845" target="_blank">rs3763845</a>;ExAC.Info.AC=34777;ExAC.Info.AN=126678;ExAC.Info.AF=0.275;ExAC.Info.AC_Het=24151;ExAC.Info.AC_Hom=5289;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.340-6T>C;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340T>C;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340T>C;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_region_variant;snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.340T>C;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300190;SAVANT_GENE=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;SAVANT_INFO=+/18.2kb/5/0.7kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.340-6T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A5+c.340-6T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60201232">View</a>	GT:AD:DP:GQ:PL:TP	0|0:76,0:76:99:0,228,2503:127	0|1:55,40:95:99:1166,0,1530:127	0|1:29,36:65:99:1135,0,787:127
11	60202747	.	C	A	4671.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs894590;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=894590" target="_blank">rs894590</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.492+1357C>A;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493C>A;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493C>A;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000300190;SAVANT_GENE=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;SAVANT_INFO=+/18.2kb/5/0.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.492+1357C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A5+c.492+1357C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60202747">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,29:29:87:946,87,0:47	1|1:0,16:16:48:631,48,0:47	1|1:0,24:24:72:762,72,0:47
11	60202798	.	C	CA	2406.98	PASS	InheritancePattern=AR;AC=4;AF=0.667;AN=6;DP=64;MQ=70.00;MQ0=0;culprit=MQRankSum;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|0;dbSNP139.ID=rs11377519;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11377519" target="_blank">rs11377519</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.492+1409_492+1410insA;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493_494insA;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.493_494insA;snpeff.Amino_Acid_length=200;snpeff.Gene_Name=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000300190;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000300190;SAVANT_GENE=MS4A5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A5" target="_blank">MS4A5</a>;SAVANT_INFO=+/18.2kb/5/0.7kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.492+1418dupA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A5+c.492+1418dupA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60202798">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,24:24:76:657,76,0:76	1|0:9,9:18:99:200,0,181:76	1|0:11,11:22:99:226,0,243:76
11	60264755	.	G	A	4336.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=464;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2298551;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298551" target="_blank">rs2298551</a>;ExAC.Info.AC=72001;ExAC.Info.AN=126490;ExAC.Info.AF=0.569;ExAC.Info.AC_Het=29241;ExAC.Info.AC_Hom=20109;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.-6-31G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000016913;SAVANT_GENE=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;SAVANT_INFO=+/14.7kb/7/1.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-37G>A;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A12+c.-37G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60264755">View</a>	GT:AD:DP:GQ:PL:TP	0|0:134,0:134:99:0,402,4645:127	0|0:191,0:191:99:0,574,6700:127	0|1:70,69:139:99:2187,0,2109:127
11	60264947	.	C	T	9406.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=956;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2298552;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298552" target="_blank">rs2298552</a>;ExAC.Info.AC=72394;ExAC.Info.AN=126704;ExAC.Info.AF=0.571;ExAC.Info.AC_Het=30431;ExAC.Info.AC_Hom=20978;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.156C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=taC/taT;snpeff.Amino_Acid_Change=p.Tyr52Tyr/c.156C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000016913;SAVANT_GENE=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;SAVANT_INFO=+/14.7kb/7/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.156C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A12+c.156C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60264947">View</a>	GT:AD:DP:GQ:PL:TP	0|0:306,0:306:99:0,920,10641:127	0|0:341,0:341:99:0,1025,12038:127	0|1:155,154:309:99:4722,0,4507:127
11	60265002	.	C	T	7980.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=910;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbSNP139.ID=rs2298553;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298553" target="_blank">rs2298553</a>;hgmd_2014.2.CLASS=FTV;hgmd_2014.2.PHEN=Potential_protein_deficiency;hgmd_2014.2.OMIM_ID=606550;hgmd_2014.2.PubMed=16595072;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=16595072" target="_blank">16595072</a>;ExAC.Info.AC=60201;ExAC.Info.AN=126704;ExAC.Info.AF=0.475;ExAC.Info.AC_Het=31209;ExAC.Info.AC_Hom=14463;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.211C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=stop_gained;snpeff.Effect_Impact=HIGH;snpeff.Functional_Class=NONSENSE;snpeff.Codon_Change=Caa/Taa;snpeff.Amino_Acid_Change=p.Gln71*/c.211C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;LOF=(MS4A12|ENSG00000071203|1|1.00);NMD=(MS4A12|ENSG00000071203|1|1.00);TYPE=SNP;SAVANT_ENST=ENST00000016913;SAVANT_GENE=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;SAVANT_INFO=+/14.7kb/7/1.2kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.211C>T_p.Gln71X;SAVANT_EFFECT=STOP_GAIN;SAVANT_IMPACT=HIGH;SAVANT_CLASS=SG;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A12+c.211C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60265002">View</a>	GT:AD:DP:GQ:PL:TP	0|0:278,0:278:99:0,835,9863:127	0|0:329,0:329:99:0,989,11897:127	0|1:151,152:303:99:4009,0,4526:127
11	60268679	.	G	C	39529.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=476;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2186918;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2186918" target="_blank">rs2186918</a>;ExAC.Info.AC=126444;ExAC.Info.AN=126650;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=206;ExAC.Info.AC_Hom=62453;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.414+24G>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.415G>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.415G>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000016913;SAVANT_GENE=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;SAVANT_INFO=+/14.7kb/7/1.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.414+24G>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A12+c.414+24G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60268679">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,125:125:99:4627,376,0:127	1|1:0,189:189:99:6847,568,0:127	1|1:0,162:162:99:6035,487,0:127
11	60271325	.	A	T	1340.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=171;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2298556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298556" target="_blank">rs2298556</a>;ExAC.Info.AC=62919;ExAC.Info.AN=126670;ExAC.Info.AF=0.497;ExAC.Info.AC_Het=34828;ExAC.Info.AC_Hom=15876;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.588+35A>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.589A>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.589A>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000016913;SAVANT_GENE=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;SAVANT_INFO=+/14.7kb/7/1.2kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.588+35A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A12+c.588+35A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60271325">View</a>	GT:AD:DP:GQ:PL:TP	0|0:42,0:42:99:0,126,1454:125	0|0:63,0:63:99:0,189,2212:125	0|1:41,25:66:99:689,0,1278:125
11	60274640	.	T	C	8088.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=778;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2298559;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2298559" target="_blank">rs2298559</a>;ExAC.Info.AC=56181;ExAC.Info.AN=126636;ExAC.Info.AF=0.444;ExAC.Info.AC_Het=30075;ExAC.Info.AC_Hom=12605;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=43;snpeff.Amino_Acid_Change=c.*43T>C;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000016913;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000016913;SAVANT_GENE=MS4A12;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A12" target="_blank">MS4A12</a>;SAVANT_INFO=+/14.7kb/7/1.2kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*43T>C;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A12+c.*43T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60274640">View</a>	GT:AD:DP:GQ:PL:TP	0|0:241,0:241:99:0,724,7949:127	0|0:292,0:292:99:0,877,10059:127	0|1:119,126:245:99:4063,0,3446:127
11	60285564	.	G	A	4121.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=242;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D|D|D;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=M;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs55756397;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=55756397" target="_blank">rs55756397</a>;ExAC.Info.AC=1850;ExAC.Info.AN=126686;ExAC.Info.AF=0.015;ExAC.Info.AC_Het=1812;ExAC.Info.AC_Hom=16;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.8G>A;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=MS4A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A13" target="_blank">MS4A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gGc/gAc;snpeff.Amino_Acid_Change=p.Gly3Asp/c.8G>A;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=MS4A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A13" target="_blank">MS4A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378186;SAVANT_GENE=MS4A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A13" target="_blank">MS4A13</a>;SAVANT_INFO=+/27.3kb/7/0.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.8G>A_p.Gly3Asp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A13+c.8G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60285564">View</a>	GT:AD:DP:GQ:PL:TP	0|1:59,26:85:99:553,0,1757:127	1|0:47,38:85:99:993,0,1379:127	0|0:72,0:72:99:0,216,2445:127
11	60285575	.	A	G	19363.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10736706;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10736706" target="_blank">rs10736706</a>;ExAC.Info.AC=124802;ExAC.Info.AN=126674;ExAC.Info.AF=0.985;ExAC.Info.AC_Het=1565;ExAC.Info.AC_Hom=61527;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.19A>G;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=MS4A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A13" target="_blank">MS4A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Att/Gtt;snpeff.Amino_Acid_Change=p.Ile7Val/c.19A>G;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=MS4A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A13" target="_blank">MS4A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378186;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378186;SAVANT_GENE=MS4A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A13" target="_blank">MS4A13</a>;SAVANT_INFO=+/27.3kb/7/0.9kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.19A>G_p.Ile7Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A13+c.19A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60285575">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,94:94:99:3036,282,0:127	1|1:0,92:92:99:2963,276,0:127	1|1:0,77:77:99:2572,231,0:127
11	60291413	.	C	T	12241.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=167;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs6591595;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6591595" target="_blank">rs6591595</a>;ExAC.Info.AC=103830;ExAC.Info.AN=126662;ExAC.Info.AF=0.820;ExAC.Info.AC_Het=17591;ExAC.Info.AC_Hom=42978;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCg/cTg;snpeff.Amino_Acid_Change=p.Pro58Leu/c.173C>T;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=MS4A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A13" target="_blank">MS4A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378186;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378186;SAVANT_GENE=MS4A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A13" target="_blank">MS4A13</a>;SAVANT_INFO=+/27.3kb/7/0.9kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.173C>T_p.Pro58Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A13+c.173C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60291413">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1811,165,0:127	1|1:0,49:49:99:1696,147,0:127	1|1:0,63:63:99:2029,189,0:127
11	60310083	.	A	T	3320.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=390;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11230378;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11230378" target="_blank">rs11230378</a>;ExAC.Info.AC=43097;ExAC.Info.AN=126502;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=26244;ExAC.Info.AC_Hom=7284;snpeff.Effect=3_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=35;snpeff.Amino_Acid_Change=c.*35A>T;snpeff.Amino_Acid_length=152;snpeff.Gene_Name=MS4A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A13" target="_blank">MS4A13</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000378186;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000378186;SAVANT_GENE=MS4A13;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A13" target="_blank">MS4A13</a>;SAVANT_INFO=+/27.3kb/7/0.9kb;SAVANT_LOC=3UTR;SAVANT_HGVS=c.*35A>T;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=3PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A13+c.*35A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60310083">View</a>	GT:AD:DP:GQ:PL:TP	0|0:112,1:113:99:0,303,3489:127	0|0:151,2:153:99:0,410,4925:127	0|1:60,64:124:99:1679,0,1645:127
11	60504424	.	CT	C	222.82	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=50;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11363998;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11363998" target="_blank">rs11363998</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.586-26delT;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MS4A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A18" target="_blank">MS4A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398983;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586delT;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MS4A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A18" target="_blank">MS4A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398983;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.586delT;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MS4A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A18" target="_blank">MS4A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398983;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000398983;SAVANT_GENE=MS4A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A18" target="_blank">MS4A18</a>;SAVANT_INFO=+/14.5kb/6/1.0kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.586-11delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=HGVSAndClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A18+c.586-11delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60504424">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,4:18:12:0,12,241:8	0|0:16,3:19:11:0,11,320:8	0|1:7,6:13:93:95,0,93:8
11	60511059	.	A	T	3382.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=381;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs11821421;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11821421" target="_blank">rs11821421</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.853-64A>T;snpeff.Amino_Acid_length=322;snpeff.Gene_Name=MS4A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A18" target="_blank">MS4A18</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000398983;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398983;SAVANT_GENE=MS4A18;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A18" target="_blank">MS4A18</a>;SAVANT_INFO=+/14.5kb/6/1.0kb;SAVANT_LOC=In5/6;SAVANT_HGVS=c.853-64A>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A18+c.853-64A>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60511059">View</a>	GT:AD:DP:GQ:PL:TP	0|0:122,0:122:99:0,367,3980:127	0|0:143,0:143:99:0,430,4857:127	0|1:58,58:116:99:1710,0,1574:127
11	60531264	.	A	G	3825.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=80;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D|D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs12363342;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=12363342" target="_blank">rs12363342</a>;ExAC.Info.AC=41905;ExAC.Info.AN=125266;ExAC.Info.AF=0.335;ExAC.Info.AC_Het=27150;ExAC.Info.AC_Hom=7362;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Agt/Ggt;snpeff.Amino_Acid_Change=p.Ser20Gly/c.58A>G;snpeff.Amino_Acid_length=240;snpeff.Gene_Name=MS4A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A15" target="_blank">MS4A15</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000405633;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000405633;SAVANT_GENE=MS4A15;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A15" target="_blank">MS4A15</a>;SAVANT_INFO=+/19.7kb/7/1.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.58A>G_p.Ser20Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A15+c.58A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60531264">View</a>	GT:AD:DP:GQ:PL:TP	0|1:18,14:32:99:373,0,477:90	1|1:0,30:30:90:936,90,0:90	0|1:7,11:18:99:290,0,200:90
11	60559805	.	A	G	33978.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=811;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbSNP139.ID=rs931861;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=931861" target="_blank">rs931861</a>;ExAC.Info.AC=97322;ExAC.Info.AN=126704;ExAC.Info.AF=0.768;ExAC.Info.AC_Het=21246;ExAC.Info.AC_Hom=38030;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.360+11A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308287;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.361A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308287;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.361A>G;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308287;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308287;SAVANT_GENE=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;SAVANT_INFO=+/16.0kb/8/2.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.360+11A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A10+c.360+11A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60559805">View</a>	GT:AD:DP:GQ:PL:TP	1|0:121,110:231:99:2896,0,3110:127	0|1:171,147:318:99:3968,0,4761:127	1|1:0,262:262:99:8932,787,0:127
11	60567230	.	C	T	10644.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs11230483;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11230483" target="_blank">rs11230483</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.723-71C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308287;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.723C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308287;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.723C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308287;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.723C>T;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308287;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308287;SAVANT_GENE=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;SAVANT_INFO=+/16.0kb/8/2.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.723-71C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A10+c.723-71C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60567230">View</a>	GT:AD:DP:GQ:PL:TP	1|0:55,52:107:99:1304,0,1667:127	0|0:107,2:109:99:0,251,3930:127	1|1:0,98:98:99:3336,295,0:127
11	60567275	.	G	A	35522.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=463;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs579967;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=579967" target="_blank">rs579967</a>;ExAC.Info.AC=120239;ExAC.Info.AN=121442;ExAC.Info.AF=0.990;ExAC.Info.AC_Het=483;ExAC.Info.AC_Hom=30649;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.723-26G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308287;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.723G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308287;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.723G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308287;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.723G>A;snpeff.Amino_Acid_length=267;snpeff.Gene_Name=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000308287;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000308287;SAVANT_GENE=MS4A10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MS4A10" target="_blank">MS4A10</a>;SAVANT_INFO=+/16.0kb/8/2.3kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.723-26G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=MS4A10+c.723-26G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60567275">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,157:157:99:4803,471,0:127	1|1:0,170:170:99:5440,510,0:127	1|1:0,136:136:99:4431,409,0:127
11	60610056	.	G	C	8676.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=325;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2074421;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2074421" target="_blank">rs2074421</a>;ExAC.Info.AC=13841;ExAC.Info.AN=126504;ExAC.Info.AF=0.109;ExAC.Info.AC_Het=11647;ExAC.Info.AC_Hom=965;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.317-603C>G;snpeff.Gene_Name=RP11-804A23.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-804A234" target="_blank">RP11-804A234</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538705;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.349+34C>G;snpeff.Gene_Name=RP11-804A23.2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-804A234" target="_blank">RP11-804A234</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000539897;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.459G>C;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CCDC86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-804A234" target="_blank">RP11-804A234</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227520;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=caG/caC;snpeff.Amino_Acid_Change=p.Gln153His/c.459G>C;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CCDC86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-804A234" target="_blank">RP11-804A234</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227520;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227520;SAVANT_GENE=CCDC86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC86" target="_blank">CCDC86</a>;SAVANT_INFO=+/9.0kb/4/1.9kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.459G>C_p.Gln153His;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC86+c.459G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60610056">View</a>	GT:AD:DP:GQ:PL:TP	0|1:37,40:77:99:1282,0,1142:127	1|0:65,60:125:99:1892,0,1950:127	0|0:123,0:123:99:0,368,4287:127
11	60617646	.	T	C	45643.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=570;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs495949;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=495949" target="_blank">rs495949</a>;ExAC.Info.AC=126172;ExAC.Info.AN=126698;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=503;ExAC.Info.AC_Hom=62785;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.964-33T>C;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CCDC86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC86" target="_blank">CCDC86</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227520;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.316+593A>G;snpeff.Gene_Name=RP11-804A23.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC86" target="_blank">CCDC86</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000538705;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964T>C;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CCDC86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC86" target="_blank">CCDC86</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227520;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964T>C;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CCDC86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC86" target="_blank">CCDC86</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227520;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[coiled-coil_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.964T>C;snpeff.Amino_Acid_length=360;snpeff.Gene_Name=CCDC86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC86" target="_blank">CCDC86</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227520;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227520;SAVANT_GENE=CCDC86;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC86" target="_blank">CCDC86</a>;SAVANT_INFO=+/9.0kb/4/1.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.964-33T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CCDC86+c.964-33T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60617646">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,201:201:99:6457,604,0:127	1|1:0,217:217:99:7031,650,0:127	1|1:0,152:152:99:5292,456,0:127
11	60620585	.	A	G	22321.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=185;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2467642;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2467642" target="_blank">rs2467642</a>;ExAC.Info.AC=124632;ExAC.Info.AN=125188;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=448;ExAC.Info.AC_Hom=57466;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.611A>G;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PTGDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGDR2" target="_blank">PTGDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332539;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gTg/gCg;snpeff.Amino_Acid_Change=p.Val204Ala/c.611T>C;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PTGDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGDR2" target="_blank">PTGDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332539;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332539;SAVANT_GENE=GPR44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR44" target="_blank">GPR44</a>;SAVANT_INFO=-/5.0kb/2/2.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.611T>C_p.Val204Ala;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR44+c.611T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60620585">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2324,159,0:127	1|1:0,73:73:99:3267,223,0:127	1|1:0,59:59:99:2776,187,0:127
11	60620590	.	C	G	22545.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=187;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2428461;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2428461" target="_blank">rs2428461</a>;ExAC.Info.AC=124633;ExAC.Info.AN=125184;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=454;ExAC.Info.AC_Hom=58267;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.606C>G;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PTGDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGDR2" target="_blank">PTGDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332539;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=cgG/cgC;snpeff.Amino_Acid_Change=p.Arg202Arg/c.606G>C;snpeff.Amino_Acid_length=395;snpeff.Gene_Name=PTGDR2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGDR2" target="_blank">PTGDR2</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000332539;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000332539;SAVANT_GENE=GPR44;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPR44" target="_blank">GPR44</a>;SAVANT_INFO=-/5.0kb/2/2.9kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.606G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=GPR44+c.606G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60620590">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,53:53:99:2440,169,0:127	1|1:0,72:72:99:3209,217,0:127	1|1:0,62:62:99:2846,193,0:127
11	60635091	.	T	C	11580.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=123;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs550479;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=550479" target="_blank">rs550479</a>;ExAC.Info.AC=125504;ExAC.Info.AN=126626;ExAC.Info.AF=0.991;ExAC.Info.AC_Het=1013;ExAC.Info.AC_Hom=61597;snpeff.Effect=sequence_feature[signal_peptide];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.57T>C;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtT/gtC;snpeff.Amino_Acid_Change=p.Val19Val/c.57T>C;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278853;SAVANT_GENE=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;SAVANT_INFO=+/8.1kb/12/2.0kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.57T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZP1+c.57T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60635091">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,37:37:99:1337,111,0:104	1|1:0,51:51:99:1844,153,0:104	1|1:0,35:35:99:1287,105,0:104
11	60637164	.	C	T	37284.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=481;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs489172;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=489172" target="_blank">rs489172</a>;ExAC.Info.AC=95799;ExAC.Info.AN=126704;ExAC.Info.AF=0.756;ExAC.Info.AC_Het=21159;ExAC.Info.AC_Hom=37275;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCc/aTc;snpeff.Amino_Acid_Change=p.Thr158Ile/c.473C>T;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278853;SAVANT_GENE=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;SAVANT_INFO=+/8.1kb/12/2.0kb;SAVANT_LOC=Ex3;SAVANT_HGVS=c.473C>T_p.Thr158Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZP1+c.473C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60637164">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,169:169:99:5450,507,0:127	1|1:0,160:160:99:5704,481,0:127	1|1:0,152:152:99:5149,456,0:127
11	60638470	.	A	G	39468.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=452;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs566411;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=566411" target="_blank">rs566411</a>;ExAC.Info.AC=126697;ExAC.Info.AN=126698;ExAC.Info.AF=1.000;ExAC.Info.AC_Het=0;ExAC.Info.AC_Hom=63325;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtA/gtG;snpeff.Amino_Acid_Change=p.Val289Val/c.867A>G;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278853;SAVANT_GENE=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;SAVANT_INFO=+/8.1kb/12/2.0kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.867A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZP1+c.867A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60638470">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,139:139:99:5028,417,0:127	1|1:0,165:165:99:5979,496,0:127	1|1:0,148:148:99:5376,445,0:127
11	60642325	.	G	A	10678.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=288;MQ=69.98;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2074418;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2074418" target="_blank">rs2074418</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1573-81G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:ZP];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1573G>A;snpeff.Amino_Acid_length=638;snpeff.Gene_Name=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278853;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278853;SAVANT_GENE=ZP1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=ZP1" target="_blank">ZP1</a>;SAVANT_INFO=+/8.1kb/12/2.0kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1573-81G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=ZP1+c.1573-81G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60642325">View</a>	GT:AD:DP:GQ:PL:TP	0/1:51,47:98:99:1368,0,1450:127	0/1:58,60:118:99:1882,0,1637:127	0/1:37,35:72:99:1051,0,1081:127
11	60666116	.	G	T	5214.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=151;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3763841;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3763841" target="_blank">rs3763841</a>;ExAC.Info.AC=46947;ExAC.Info.AN=126702;ExAC.Info.AF=0.371;ExAC.Info.AC_Het=28935;ExAC.Info.AC_Hom=8963;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1055-18C>A;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1055G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1055G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1055G>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227524;SAVANT_GENE=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;SAVANT_INFO=-/15.9kb/16/2.2kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1055-18C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF19+c.1055-18C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60666116">View</a>	GT:AD:DP:GQ:PL:TP	0/1:22,24:46:99:598,0,705:127	0/1:27,33:60:99:1003,0,849:127	0/1:26,19:45:99:575,0,872:127
11	60666341	.	G	A	10478.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=369;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs3763840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3763840" target="_blank">rs3763840</a>;ExAC.Info.AC=44341;ExAC.Info.AN=126374;ExAC.Info.AF=0.351;ExAC.Info.AC_Het=24172;ExAC.Info.AC_Hom=6687;snpeff.Effect=sequence_feature[turn];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1047G>A;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1047G>A;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1047G>A;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[repeat:WD_4];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1047G>A;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcC/tcT;snpeff.Amino_Acid_Change=p.Ser349Ser/c.1047C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227524;SAVANT_GENE=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;SAVANT_INFO=-/15.9kb/16/2.2kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1047C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF19+c.1047C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60666341">View</a>	GT:AD:DP:GQ:PL:TP	0/1:46,65:111:99:1717,0,1275:127	0/1:73,72:145:99:1900,0,2083:127	0/1:53,60:113:99:1531,0,1304:127
11	60668950	.	G	A	3297.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=146;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72916983;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72916983" target="_blank">rs72916983</a>;ExAC.Info.AC=37;ExAC.Info.AN=126704;ExAC.Info.AF=2.920e-04;ExAC.Info.AC_Het=37;ExAC.Info.AC_Hom=0;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.567+21C>T;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227524;SAVANT_GENE=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;SAVANT_INFO=-/15.9kb/16/2.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.567+21C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF19+c.567+21C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60668950">View</a>	GT:AD:DP:GQ:PL:TP	1|0:24,21:45:99:620,0,644:127	0|0:62,0:62:99:0,187,2459:127	1|0:19,20:39:99:579,0,563:127
11	60670846	.	C	T	7585.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=212;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2240045;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2240045" target="_blank">rs2240045</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.246+85G>A;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227524;SAVANT_GENE=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;SAVANT_INFO=-/15.9kb/16/2.2kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.246+85G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF19+c.246+85G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60670846">View</a>	GT:AD:DP:GQ:PL:TP	0/1:29,31:60:99:719,0,913:127	0/1:43,46:89:99:1327,0,1300:127	0/1:29,34:63:99:1012,0,909:127
11	60673868	.	T	C	2666.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=62;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs17155470;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17155470" target="_blank">rs17155470</a>;ExAC.Info.AC=41170;ExAC.Info.AN=120594;ExAC.Info.AF=0.341;ExAC.Info.AC_Het=15473;ExAC.Info.AC_Hom=4797;snpeff.Effect=5_prime_UTR_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Codon_Change=14;snpeff.Amino_Acid_Change=c.-14A>G;snpeff.Amino_Acid_length=504;snpeff.Gene_Name=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227524;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227524;SAVANT_GENE=PRPF19;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRPF19" target="_blank">PRPF19</a>;SAVANT_INFO=-/15.9kb/16/2.2kb;SAVANT_LOC=5UTR;SAVANT_HGVS=c.-14A>G;SAVANT_EFFECT=UTR;SAVANT_IMPACT=LOW;SAVANT_CLASS=5PU;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PRPF19+c.-14A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60673868">View</a>	GT:AD:DP:GQ:PL:TP	0/1:11,4:15:99:106,0,351:105	0/1:16,9:25:99:264,0,493:105	0/1:7,15:22:99:432,0,162:105
11	60689445	.	T	C	7411.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=213;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs555835;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=555835" target="_blank">rs555835</a>;ExAC.Info.AC=87563;ExAC.Info.AN=126702;ExAC.Info.AF=0.691;ExAC.Info.AC_Het=25030;ExAC.Info.AC_Hom=31237;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.180-2820A>G;snpeff.Gene_Name=RP11-881M11.4;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-881M114" target="_blank">RP11-881M114</a>;snpeff.Transcript_BioType=antisense;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000543907;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccT/ccC;snpeff.Amino_Acid_Change=p.Pro180Pro/c.540T>C;snpeff.Amino_Acid_length=243;snpeff.Gene_Name=TMEM109;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-881M114" target="_blank">RP11-881M114</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000536171;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227525;SAVANT_GENE=TMEM109;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM109" target="_blank">TMEM109</a>;SAVANT_INFO=+/9.6kb/4/2.4kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.540T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM109+c.540T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60689445">View</a>	GT:AD:DP:GQ:PL:TP	0/1:38,23:61:99:640,0,1076:127	0/1:41,43:84:99:1224,0,1158:127	0/1:27,41:68:99:1179,0,794:127
11	60697905	.	T	C	7325.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=226;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs4939480;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4939480" target="_blank">rs4939480</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.867-77T>C;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005286;SAVANT_GENE=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;SAVANT_INFO=+/12.7kb/11/3.5kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.867-77T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM132A+c.867-77T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60697905">View</a>	GT:AD:DP:GQ:PL:TP	0/1:39,30:69:99:746,0,1079:127	0/1:40,40:80:99:1116,0,1110:127	0/1:35,42:77:99:1288,0,951:127
11	60698054	.	G	A	6541.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=176;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs2074416;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2074416" target="_blank">rs2074416</a>;ExAC.Info.AC=46495;ExAC.Info.AN=126692;ExAC.Info.AF=0.367;ExAC.Info.AC_Het=28600;ExAC.Info.AC_Hom=8903;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ctG/ctA;snpeff.Amino_Acid_Change=p.Leu313Leu/c.939G>A;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005286;SAVANT_GENE=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;SAVANT_INFO=+/12.7kb/11/3.5kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.939G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM132A+c.939G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60698054">View</a>	GT:AD:DP:GQ:PL:TP	0/1:18,23:41:99:665,0,550:127	0/1:31,38:69:99:1141,0,928:127	0/1:34,32:66:99:852,0,894:127
11	60701136	.	C	G	3628.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=137;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs9513;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9513" target="_blank">rs9513</a>;ExAC.Info.AC=50814;ExAC.Info.AN=125020;ExAC.Info.AF=0.406;ExAC.Info.AC_Het=26996;ExAC.Info.AC_Hom=9525;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro494Pro/c.1482C>G;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005286;SAVANT_GENE=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;SAVANT_INFO=+/12.7kb/11/3.5kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1482C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM132A+c.1482C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60701136">View</a>	GT:AD:DP:GQ:PL:TP	0/1:21,24:45:99:593,0,581:127	0/1:30,21:51:99:542,0,916:127	0/1:27,14:41:99:315,0,870:127
11	60703882	.	G	A	1628.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=263;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=P|P;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61755079;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61755079" target="_blank">rs61755079</a>;ExAC.Info.AC=4639;ExAC.Info.AN=126704;ExAC.Info.AF=0.037;ExAC.Info.AC_Het=4377;ExAC.Info.AC_Hom=132;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2578G>A;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Confers_cellular_localization_similar_to_full-length_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2578G>A;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Confers_cellular_localization_similar_to_full-length_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2578G>A;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_HSPA5/GRP78];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2578G>A;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_HSPA5/GRP78];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2578G>A;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Binds_to_HSPA5/GRP78];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2578G>A;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gtg/Atg;snpeff.Amino_Acid_Change=p.Val860Met/c.2578G>A;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005286;SAVANT_GENE=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;SAVANT_INFO=+/12.7kb/11/3.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2578G>A_p.Val860Met;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM132A+c.2578G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60703882">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,327,3662:127	0|0:82,0:82:99:0,247,3023:127	0|1:41,31:72:99:833,0,1279:127
11	60704213	.	C	T	3524.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=98;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2469887;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2469887" target="_blank">rs2469887</a>;ExAC.Info.AC=53132;ExAC.Info.AN=126626;ExAC.Info.AF=0.420;ExAC.Info.AC_Het=29827;ExAC.Info.AC_Hom=10990;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2909C>T;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Confers_cellular_localization_similar_to_full-length_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2909C>T;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[region_of_interest:Confers_cellular_localization_similar_to_full-length_form];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.2909C>T;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala970Val/c.2909C>T;snpeff.Amino_Acid_length=1024;snpeff.Gene_Name=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000005286;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000005286;SAVANT_GENE=TMEM132A;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM132A" target="_blank">TMEM132A</a>;SAVANT_INFO=+/12.7kb/11/3.5kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.2909C>T_p.Ala970Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM132A+c.2909C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60704213">View</a>	GT:AD:DP:GQ:PL:TP	0/1:10,24:34:99:609,0,287:127	0/1:17,15:32:99:440,0,497:127	0/1:15,17:32:99:512,0,501:127
11	60705454	.	A	G	14798.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2905692;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2905692" target="_blank">rs2905692</a>;ExAC.Info.AC=126409;ExAC.Info.AN=126684;ExAC.Info.AF=0.998;ExAC.Info.AC_Het=268;ExAC.Info.AC_Hom=62695;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ggT/ggC;snpeff.Amino_Acid_Change=p.Gly493Gly/c.1479T>C;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=SLC15A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC15A3" target="_blank">SLC15A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227880;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227880;SAVANT_GENE=SLC15A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC15A3" target="_blank">SLC15A3</a>;SAVANT_INFO=-/14.7kb/8/2.1kb;SAVANT_LOC=Ex7;SAVANT_HGVS=c.1479T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC15A3+c.1479T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60705454">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1844,153,0:127	1|1:0,69:69:99:2459,207,0:127	1|1:0,54:54:99:2075,162,0:127
11	60718792	.	C	T	414.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=59;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=N;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs150370599;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150370599" target="_blank">rs150370599</a>;ExAC.Info.AC=3964;ExAC.Info.AN=115780;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=1444;ExAC.Info.AC_Hom=50;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.232C>T;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=SLC15A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC15A3" target="_blank">SLC15A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227880;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gta/Ata;snpeff.Amino_Acid_Change=p.Val78Ile/c.232G>A;snpeff.Amino_Acid_length=581;snpeff.Gene_Name=SLC15A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC15A3" target="_blank">SLC15A3</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000227880;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000227880;SAVANT_GENE=SLC15A3;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC15A3" target="_blank">SLC15A3</a>;SAVANT_INFO=-/14.7kb/8/2.1kb;SAVANT_LOC=Ex1;SAVANT_HGVS=c.232G>A_p.Val78Ile;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SLC15A3+c.232G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60718792">View</a>	GT:AD:DP:GQ:PL:TP	0|0:14,0:14:42:0,42,531:42	0|0:31,0:31:93:0,93,1100:42	0|1:7,7:14:99:226,0,181:42
11	60775007	.	C	T	2698.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=83;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs4939485;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4939485" target="_blank">rs4939485</a>;ExAC.Info.AC=14824;ExAC.Info.AN=76498;ExAC.Info.AF=0.194;ExAC.Info.AC_Het=1952;ExAC.Info.AC_Hom=667;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.119-25C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.119C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.119C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.119C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.119C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.119C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.119C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.119-25C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.119-25C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60775007">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,10:20:99:228,0,250:69	1|0:18,22:40:99:607,0,491:69	0|0:23,0:23:69:0,69,840:69
11	60776103	.	T	C	4916.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=582;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs61899223;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=61899223" target="_blank">rs61899223</a>;ExAC.Info.AC=16428;ExAC.Info.AN=126060;ExAC.Info.AF=0.130;ExAC.Info.AC_Het=12816;ExAC.Info.AC_Hom=1073;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567T>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567T>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567T>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567T>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567T>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567T>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567T>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.567T>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acT/acC;snpeff.Amino_Acid_Change=p.Thr189Thr/c.567T>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.567T>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.567T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60776103">View</a>	GT:AD:DP:GQ:PL:TP	0|0:168,0:168:99:0,504,5523:127	0|0:240,0:240:99:0,721,7977:127	0|1:85,89:174:99:2477,0,2298:127
11	60776209	.	C	T	19043.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=340;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|P|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs11230563;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11230563" target="_blank">rs11230563</a>;ExAC.Info.AC=37725;ExAC.Info.AN=124624;ExAC.Info.AF=0.303;ExAC.Info.AC_Het=23271;ExAC.Info.AC_Hom=5811;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.673C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Cgg/Tgg;snpeff.Amino_Acid_Change=p.Arg225Trp/c.673C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.673C>T_p.Arg225Trp;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.673C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60776209">View</a>	GT:AD:DP:GQ:PL:TP	1|0:60,41:101:99:1320,0,1764:127	0|1:55,68:123:99:2268,0,1687:127	1|1:0,116:116:99:4361,349,0:127
11	60776306	.	C	T	13895.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=270;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B|B|B|B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T|T|T|T|T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2074225;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2074225" target="_blank">rs2074225</a>;hgmd_2014.2.CLASS=DFP;hgmd_2014.2.PHEN=Multiple_sclerosis|_increased_risk|_association_with;hgmd_2014.2.OMIM_ID=186720;hgmd_2014.2.PubMed=23638056;Link_Pubmed=<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=23638056" target="_blank">23638056</a>;ExAC.Info.AC=64242;ExAC.Info.AN=121978;ExAC.Info.AF=0.527;ExAC.Info.AC_Het=24618;ExAC.Info.AC_Hom=15275;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.770C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.770C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.770C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.770C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.770C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.770C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.770C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.770C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCg/gTg;snpeff.Amino_Acid_Change=p.Ala257Val/c.770C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.770C>T_p.Ala257Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.770C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60776306">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,30:69:99:841,0,1191:127	0|1:59,57:116:99:1661,0,1816:127	1|1:0,85:85:99:3298,256,0:127
11	60776307	.	G	C	1914.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=274;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs79848107;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=79848107" target="_blank">rs79848107</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=15528;ExAC.Info.AN=122902;ExAC.Info.AF=0.126;ExAC.Info.AC_Het=11608;ExAC.Info.AC_Hom=979;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.771G>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.771G>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.771G>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.771G>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.771G>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.771G>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.771G>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.771G>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcC;snpeff.Amino_Acid_Change=p.Ala257Ala/c.771G>C;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.771G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.771G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60776307">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,220,2985:127	0|0:118,0:118:99:0,355,4843:127	0|1:51,34:85:99:976,0,1625:127
11	60776333	.	C	T	6366.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=253;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs72926536;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72926536" target="_blank">rs72926536</a>;ExAC.Info.AC=15237;ExAC.Info.AN=119410;ExAC.Info.AF=0.128;ExAC.Info.AC_Het=9987;ExAC.Info.AC_Hom=1131;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.781+16C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.781+16C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.781+16C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60776333">View</a>	GT:AD:DP:GQ:PL:TP	1|0:34,33:67:99:977,0,1021:127	0|0:115,0:115:99:0,345,3981:127	1|0:27,44:71:99:1272,0,737:127
11	60776334	.	A	G	25215.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=249;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2905518;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2905518" target="_blank">rs2905518</a>;ExAC.Info.AC=117169;ExAC.Info.AN=117614;ExAC.Info.AF=0.996;ExAC.Info.AC_Het=133;ExAC.Info.AC_Hom=45158;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.781+17A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.782A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.781+17A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.781+17A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60776334">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,66:66:99:2676,202,0:127	1|1:0,113:113:99:3940,340,0:127	1|1:0,70:70:99:2941,211,0:127
11	60778650	.	C	CGTGTGTGTGT	7494.98	PASS	InheritancePattern=notInChild;AC=2;AF=0.500;AN=4;DP=94;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=./0;NA12892_GT=0/1;NA12891_GT=./1;dbSNP139.ID=rs150035626;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=150035626" target="_blank">rs150035626</a>;ExAC.Info.AC=7890;ExAC.Info.AN=125754;ExAC.Info.AF=0.063;ExAC.Info.AC_Het=20923;ExAC.Info.AC_Hom=320;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1150+44_1150+45insGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1150+60_1150+69dup10;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.1150+60_1150+69dup10+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60778650">View</a>	GT:AD:DP:GQ:PL	./0:25,0:35:99:816,362,1500	./1:0,12:22:99:1629,427,327	0/1:28,7:37:99:655,0,1348
11	60778650	.	C	CGTGTGTGTGTGTGT	7494.98	PASS	InheritancePattern=Normal;AC=2;AF=0.500;AN=4;DP=94;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0/1;NA12892_GT=./0;NA12891_GT=./1;dbSNP139.ID=rs10528068;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10528068" target="_blank">rs10528068</a>;ExAC.Info.AC=11884;ExAC.Info.AN=125754;ExAC.Info.AF=0.095;ExAC.Info.AC_Het=20923;ExAC.Info.AC_Hom=320;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1150+44_1150+45insGTGTGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1151_1152insGTGTGTGTGTGTGT;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=In6/7;SAVANT_HGVS=c.1150+56_1150+69dup14;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.1150+56_1150+69dup14+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60778650">View</a>	GT:AD:DP:GQ:PL	0/1:25,10:35:99:816,0,1121	./1:0,10:22:99:1629,515,428	./0:28,2:37:99:655,213,1588
11	60783108	.	C	T	24699.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=369;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|1;NA12892_GT=1|0;NA12891_GT=1|1;dbSNP139.ID=rs2074229;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2074229" target="_blank">rs2074229</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1388-77C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1388-77C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.1388-77C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60783108">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,93:93:99:3192,279,0:127	1|1:2,127:129:99:4573,338,0:127	1|0:75,72:147:99:2065,0,2022:127
11	60783126	.	C	T	47275.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=417;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3019556;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3019556" target="_blank">rs3019556</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1388-59C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388C>T;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1388-59C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.1388-59C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60783126">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,98:98:99:4550,307,0:127	1|1:0,143:143:99:6591,445,0:127	1|1:0,176:176:99:7838,536,0:127
11	60783135	.	A	G	47991.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=433;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs3019557;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3019557" target="_blank">rs3019557</a>;ExAC.Info.AC=126501;ExAC.Info.AN=126684;ExAC.Info.AF=0.999;ExAC.Info.AC_Het=180;ExAC.Info.AC_Hom=62846;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1388-50A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1388A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.1388-50A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.1388-50A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60783135">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,109:109:99:4874,334,0:127	1|1:0,149:149:99:6625,454,0:127	1|1:0,175:175:99:7898,542,0:127
11	60784934	.	A	G	1071.41	VQSRTrancheSNP99.00to99.90	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=47;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2074231;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2074231" target="_blank">rs2074231</a>;ExAC.Info.AC=18632;ExAC.Info.AN=54120;ExAC.Info.AF=0.344;ExAC.Info.AC_Het=5451;ExAC.Info.AC_Hom=3994;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1511-17A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1511A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1511A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1511A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1511A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1511A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1511A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1511A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.1511-17A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.1511-17A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60784934">View</a>	GT:AD:DP:GQ:PL:TP	1|0:10,8:18:99:211,0,314:22	0|0:20,1:21:28:0,28,684:22	1|1:0,8:8:24:256,24,0:22
11	60785038	.	A	G	4801.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=147;MQ=69.93;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs2074232;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2074232" target="_blank">rs2074232</a>;ExAC.Info.AC=58322;ExAC.Info.AN=117914;ExAC.Info.AF=0.495;ExAC.Info.AC_Het=10615;ExAC.Info.AC_Hom=7706;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1582+16A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1583A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1583A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1583A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1583A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1583A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1583A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1583A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=In10/11;SAVANT_HGVS=c.1582+16A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.1582+16A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60785038">View</a>	GT:AD:DP:GQ:PL:TP	1|0:27,18:45:99:475,0,651:107	0|0:65,1:66:99:0,156,2100:107	1|1:0,36:36:99:1309,108,0:107
11	60785352	.	A	G	6742.3	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=202;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|1;NA12891_GT=0|0;dbSNP139.ID=rs1050922;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1050922" target="_blank">rs1050922</a>;ExAC.Info.AC=70084;ExAC.Info.AN=126704;ExAC.Info.AF=0.553;ExAC.Info.AC_Het=27481;ExAC.Info.AC_Hom=21283;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1704A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1704A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1704A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1704A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1704A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1704A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1704A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=tcA/tcG;snpeff.Amino_Acid_Change=p.Ser568Ser/c.1704A>G;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=Ex11;SAVANT_HGVS=c.1704A>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.1704A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60785352">View</a>	GT:AD:DP:GQ:PL:TP	1|0:39,34:73:99:962,0,1057:118	0|0:76,0:76:99:0,229,2787:118	1|1:1,52:53:99:1809,118,0:118
11	60785952	.	C	CAAGGGGAAAAGGAGAAAGG	871.71	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=52;MQ=70.11;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs144632420;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=144632420" target="_blank">rs144632420</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1942+88_1942+89insAAGGGGAAAAGGAGAAAGG;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1943_1944insAAGGGGAAAAGGAGAAAGG;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1943_1944insAAGGGGAAAAGGAGAAAGG;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1943_1944insAAGGGGAAAAGGAGAAAGG;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1943_1944insAAGGGGAAAAGGAGAAAGG;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1943_1944insAAGGGGAAAAGGAGAAAGG;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1943_1944insAAGGGGAAAAGGAGAAAGG;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1943_1944insAAGGGGAAAAGGAGAAAGG;snpeff.Amino_Acid_length=668;snpeff.Gene_Name=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000313421;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Insertion;SAVANT_ENST=ENST00000313421;SAVANT_GENE=CD6;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD6" target="_blank">CD6</a>;SAVANT_INFO=+/48.7kb/13/3.3kb;SAVANT_LOC=In12/13;SAVANT_HGVS=c.1942+93_1942+111dup19;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD6+c.1942+93_1942+111dup19+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60785952">View</a>	GT:AD:DP:GQ:PL:TP	0|0:23,0:23:74:0,74,3669:43	0|0:14,0:14:44:0,44,2130:43	0|1:3,12:15:99:459,0,443:43
11	60886913	.	C	T	2044.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=286;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2241002;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2241002" target="_blank">rs2241002</a>;ExAC.Info.AC=19377;ExAC.Info.AN=126702;ExAC.Info.AF=0.153;ExAC.Info.AC_Het=15889;ExAC.Info.AC_Hom=1730;snpeff.Effect=sequence_feature[disulfide_bond];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:SRCR_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Extracellular];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.671C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cCa/cTa;snpeff.Amino_Acid_Change=p.Pro224Leu/c.671C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347785;SAVANT_GENE=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;SAVANT_INFO=+/25.5kb/11/3.2kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.671C>T_p.Pro224Leu;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD5+c.671C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60886913">View</a>	GT:AD:DP:GQ:PL:TP	0|0:87,0:87:99:0,262,3231:127	0|0:115,0:115:99:0,346,4294:127	0|1:46,38:84:99:1041,0,1608:127
11	60890563	.	C	T	20438.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=221;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4245224;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4245224" target="_blank">rs4245224</a>;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1225+59C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1226C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1226C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1226C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1226C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347785;SAVANT_GENE=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;SAVANT_INFO=+/25.5kb/11/3.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1225+59C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD5+c.1225+59C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60890563">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,55:55:99:1946,165,0:127	1|1:0,105:105:99:3708,316,0:127	1|1:0,61:61:99:2159,183,0:127
11	60891310	.	T	C	6150.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=69;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs7106643;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7106643" target="_blank">rs7106643</a>;ExAC.Info.AC=88238;ExAC.Info.AN=124104;ExAC.Info.AF=0.711;ExAC.Info.AC_Het=18725;ExAC.Info.AC_Hom=27437;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1226-46T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1226T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1226T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1226T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1226T>C;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347785;SAVANT_GENE=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;SAVANT_INFO=+/25.5kb/11/3.2kb;SAVANT_LOC=In7/8;SAVANT_HGVS=c.1226-46T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD5+c.1226-46T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60891310">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,25:25:75:968,75,0:50	1|1:0,27:27:81:1115,81,0:50	1|1:0,17:17:51:704,51,0:50
11	60892606	.	A	G	43150.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=526;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs637186;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=637186" target="_blank">rs637186</a>;ExAC.Info.AC=118782;ExAC.Info.AN=126698;ExAC.Info.AF=0.938;ExAC.Info.AC_Het=7249;ExAC.Info.AC_Hom=55684;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1382A>G;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1382A>G;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1382A>G;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1382A>G;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=cAc/cGc;snpeff.Amino_Acid_Change=p.His461Arg/c.1382A>G;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347785;SAVANT_GENE=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;SAVANT_INFO=+/25.5kb/11/3.2kb;SAVANT_LOC=Ex9;SAVANT_HGVS=c.1382A>G_p.His461Arg;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD5+c.1382A>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60892606">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,165:165:99:5603,494,0:127	1|1:0,203:203:99:6630,607,0:127	1|1:0,158:158:99:5240,474,0:127
11	60893235	.	C	T	55388.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=709;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2229177;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2229177" target="_blank">rs2229177</a>;cosmic68.Histology_subtype=adenocarcinoma;ExAC.Info.AC=77268;ExAC.Info.AN=126698;ExAC.Info.AF=0.610;ExAC.Info.AC_Het=27431;ExAC.Info.AC_Hom=24791;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1412C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1412C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1412C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1412C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCt/gTt;snpeff.Amino_Acid_Change=p.Ala471Val/c.1412C>T;snpeff.Amino_Acid_length=495;snpeff.Gene_Name=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000347785;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000347785;SAVANT_GENE=CD5;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CD5" target="_blank">CD5</a>;SAVANT_INFO=+/25.5kb/11/3.2kb;SAVANT_LOC=Ex10;SAVANT_HGVS=c.1412C>T_p.Ala471Val;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CD5+c.1412C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60893235">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,220:220:99:6954,661,0:127	1|1:0,266:266:99:9172,799,0:127	1|1:0,223:223:99:7366,670,0:127
11	60899767	.	A	G	16376.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=N;dbNSFPv2.8.FathmmPred=T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs754382;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=754382" target="_blank">rs754382</a>;ExAC.Info.AC=92372;ExAC.Info.AN=125736;ExAC.Info.AF=0.735;ExAC.Info.AC_Het=20310;ExAC.Info.AC_Hom=31258;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.593A>G;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=VPS37C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS37C" target="_blank">VPS37C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301765;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=tTa/tCa;snpeff.Amino_Acid_Change=p.Leu198Ser/c.593T>C;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=VPS37C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS37C" target="_blank">VPS37C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301765;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000301765;SAVANT_GENE=VPS37C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS37C" target="_blank">VPS37C</a>;SAVANT_INFO=-/31.4kb/5/2.9kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.593T>C_p.Leu198Ser;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VPS37C+c.593T>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60899767">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,51:51:99:1679,153,0:127	1|1:0,81:81:99:3065,244,0:127	1|1:0,51:51:99:1915,153,0:127
11	60900018	.	G	T	1400.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=197;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs72914704;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72914704" target="_blank">rs72914704</a>;ExAC.Info.AC=4203;ExAC.Info.AN=125382;ExAC.Info.AF=0.034;ExAC.Info.AC_Het=3771;ExAC.Info.AC_Hom=120;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.349-7C>A;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=VPS37C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS37C" target="_blank">VPS37C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301765;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VPS37_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>T;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=VPS37C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS37C" target="_blank">VPS37C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301765;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VPS37_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>T;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=VPS37C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS37C" target="_blank">VPS37C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301765;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VPS37_C-terminal];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.349G>T;snpeff.Amino_Acid_length=355;snpeff.Gene_Name=VPS37C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS37C" target="_blank">VPS37C</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301765;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000301765;SAVANT_GENE=VPS37C;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VPS37C" target="_blank">VPS37C</a>;SAVANT_INFO=-/31.4kb/5/2.9kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.349-7C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VPS37C+c.349-7C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:60900018">View</a>	GT:AD:DP:GQ:PL:TP	0|0:71,0:71:99:0,213,2313:127	0|0:68,0:68:99:0,204,2448:127	0|1:32,26:58:99:719,0,1002:127
11	61044021	.	TA	T	1237.29	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=96;MQ=70.03;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1495+43delT;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=VWCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWCE" target="_blank">VWCE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335613;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFC_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496delA;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=VWCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWCE" target="_blank">VWCE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335613;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFC_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496delA;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=VWCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWCE" target="_blank">VWCE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335613;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFC_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496delA;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=VWCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWCE" target="_blank">VWCE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335613;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:VWFC_2];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1496delA;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=VWCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWCE" target="_blank">VWCE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335613;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000335613;SAVANT_GENE=VWCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWCE" target="_blank">VWCE</a>;SAVANT_INFO=-/37.1kb/20/3.6kb;SAVANT_LOC=In11/12;SAVANT_HGVS=c.1495+43delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWCE+c.1495+43delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61044021">View</a>	GT:AD:DP:GQ:PL:TP	0/1:14,9:23:99:136,0,249:127	0/1:22,12:34:99:164,0,368:127	0/1:22,17:39:99:225,0,389:127
11	61058867	.	T	C	4055.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=208;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs6591651;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=6591651" target="_blank">rs6591651</a>;ExAC.Info.AC=20529;ExAC.Info.AN=125806;ExAC.Info.AF=0.163;ExAC.Info.AC_Het=9524;ExAC.Info.AC_Hom=3000;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.206-42A>G;snpeff.Amino_Acid_length=955;snpeff.Gene_Name=VWCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWCE" target="_blank">VWCE</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000335613;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000335613;SAVANT_GENE=VWCE;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=VWCE" target="_blank">VWCE</a>;SAVANT_INFO=-/37.1kb/20/3.6kb;SAVANT_LOC=In2/3;SAVANT_HGVS=c.206-42A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=VWCE+c.206-42A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61058867">View</a>	GT:AD:DP:GQ:PL:TP	1|0:30,24:54:99:566,0,780:127	0|0:100,0:100:99:0,300,3359:127	1|0:28,26:54:99:685,0,726:127
11	61099072	.	G	A	2906.76	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=224;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs2230356;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2230356" target="_blank">rs2230356</a>;ExAC.Info.AC=9001;ExAC.Info.AN=126704;ExAC.Info.AF=0.071;ExAC.Info.AC_Het=8062;ExAC.Info.AC_Hom=468;snpeff.Effect=sequence_feature[beta_strand];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[interacting_region:Interaction_with_CDT1];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.153G>A;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccT;snpeff.Amino_Acid_Change=p.Pro51Pro/c.153C>T;snpeff.Amino_Acid_length=1140;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301764;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000301764;SAVANT_GENE=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;SAVANT_INFO=-/33.9kb/27/4.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.153C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DDB1+c.153C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61099072">View</a>	GT:AD:DP:GQ:PL:TP	0|0:67,0:67:99:0,201,2195:127	0|1:44,51:95:99:1472,0,1228:127	0|0:62,0:62:99:0,186,2209:127
11	61106892	.	G	C	14828.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=174;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2513329;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2513329" target="_blank">rs2513329</a>;ExAC.Info.AC=115895;ExAC.Info.AN=125990;ExAC.Info.AF=0.920;ExAC.Info.AC_Het=5494;ExAC.Info.AC_Hom=53090;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471G>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471G>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471G>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471G>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471G>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471G>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471G>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471G>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471G>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.471G>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acG/acC;snpeff.Amino_Acid_Change=p.Thr157Thr/c.471G>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394900;SAVANT_GENE=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;SAVANT_INFO=+/16.0kb/18/4.7kb;SAVANT_LOC=Ex5;SAVANT_HGVS=c.471G>C_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAK+c.471G>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61106892">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,60:60:99:2096,180,0:127	1|1:0,57:57:99:2078,171,0:127	1|1:0,57:57:99:1968,171,0:127
11	61108974	.	G	A	8881.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=116;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs2260655;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2260655" target="_blank">rs2260655</a>;ExAC.Info.AC=96589;ExAC.Info.AN=106350;ExAC.Info.AF=0.908;ExAC.Info.AC_Het=1999;ExAC.Info.AC_Hom=13173;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=DDB1;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.553G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=Gcc/Acc;snpeff.Amino_Acid_Change=p.Ala185Thr/c.553G>A;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DDB1" target="_blank">DDB1</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394900;SAVANT_GENE=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;SAVANT_INFO=+/16.0kb/18/4.7kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.553G>A_p.Ala185Thr;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAK+c.553G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61108974">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,44:44:99:1473,132,0:89	1|1:0,42:42:99:1516,126,0:89	1|1:0,30:30:90:1022,90,0:89
11	61110169	.	A	C	43632.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=487;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs4939514;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=4939514" target="_blank">rs4939514</a>;ExAC.Info.AC=117980;ExAC.Info.AN=126672;ExAC.Info.AF=0.931;ExAC.Info.AC_Het=5406;ExAC.Info.AC_Hom=55992;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.775+39A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.776A>C;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394900;SAVANT_GENE=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;SAVANT_INFO=+/16.0kb/18/4.7kb;SAVANT_LOC=In9/10;SAVANT_HGVS=c.775+39A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAK+c.775+39A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61110169">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,160:160:99:5890,481,0:127	1|1:0,188:188:99:7233,568,0:127	1|1:0,139:139:99:5279,418,0:127
11	61111346	.	C	G	11562.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=502;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.Polyphen2HdivPred=B|B;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MutationassessorPred=L;dbNSFPv2.8.FathmmPred=T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs35723406;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=35723406" target="_blank">rs35723406</a>;ExAC.Info.AC=10098;ExAC.Info.AN=126686;ExAC.Info.AF=0.080;ExAC.Info.AC_Het=8938;ExAC.Info.AC_Hom=552;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1001C>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1001C>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1001C>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1001C>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1001C>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1001C>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1001C>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1001C>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1001C>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaK];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1001C>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=gCa/gGa;snpeff.Amino_Acid_Change=p.Ala334Gly/c.1001C>G;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394900;SAVANT_GENE=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;SAVANT_INFO=+/16.0kb/18/4.7kb;SAVANT_LOC=Ex12;SAVANT_HGVS=c.1001C>G_p.Ala334Gly;SAVANT_EFFECT=NONSYNONYMOUS;SAVANT_IMPACT=MODERATE;SAVANT_CLASS=NSC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAK+c.1001C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61111346">View</a>	GT:AD:DP:GQ:PL:TP	1|0:93,78:171:99:2071,0,2627:127	0|0:183,0:183:99:0,550,6312:127	1|0:76,72:148:99:2054,0,2128:127
11	61112802	.	C	T	15266.93	PASS	InheritancePattern=Normal;AC=6;AF=1.00;AN=6;DP=183;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|1;dbSNP139.ID=rs2305465;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2305465" target="_blank">rs2305465</a>;ExAC.Info.AC=117314;ExAC.Info.AN=126618;ExAC.Info.AF=0.927;ExAC.Info.AC_Het=5714;ExAC.Info.AC_Hom=54805;snpeff.Effect=sequence_feature[domain:DhaL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311C>T;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311C>T;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311C>T;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311C>T;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311C>T;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[domain:DhaL];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1311C>T;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gtC/gtT;snpeff.Amino_Acid_Change=p.Val437Val/c.1311C>T;snpeff.Amino_Acid_length=575;snpeff.Gene_Name=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000394900;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000394900;SAVANT_GENE=DAK;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAK" target="_blank">DAK</a>;SAVANT_INFO=+/16.0kb/18/4.7kb;SAVANT_LOC=Ex14;SAVANT_HGVS=c.1311C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAK+c.1311C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61112802">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,61:61:99:1998,183,0:127	1|1:0,75:75:99:2636,226,0:127	1|1:0,47:47:99:1696,141,0:127
11	61135368	.	CT	C	4187.71	PASS	InGeneList;InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=707;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;OMIM_phenotypes.name=Joubert_syndrome_16|_614465_(3)|Joubert_syndrome_16|_614465_(3);snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.301-26delT;snpeff.Amino_Acid_length=162;snpeff.Gene_Name=TMEM138;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM138" target="_blank">TMEM138</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278826;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;TYPE=Deletion;SAVANT_ENST=ENST00000278826;SAVANT_GENE=TMEM138;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM138" target="_blank">TMEM138</a>;SAVANT_INFO=+/7.2kb/5/1.6kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.301-23delT;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=HGVSNotClass;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM138+c.301-23delT+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61135368">View</a>	GT:AD:DP:GQ:PL:TP	0|0:218,0:218:99:0,654,7316:127	0|0:248,0:248:99:0,746,8406:127	0|1:156,85:241:99:2117,0,4540:127
11	61165280	.	G	A	23671.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=500;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Joubert_syndrome_2|_608091_(3)|_Meckel_syndrome_2|_603194_(3);dbSNP139.ID=rs3741265;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3741265" target="_blank">rs3741265</a>;ExAC.Info.AC=108261;ExAC.Info.AN=125060;ExAC.Info.AF=0.866;ExAC.Info.AC_Het=14119;ExAC.Info.AC_Hom=46978;Clinvar.ClinicalSignificance=Likely_benign;Clinvar.RCVaccession=RCV000114238;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro88Pro/c.264G>A;snpeff.Amino_Acid_length=148;snpeff.Gene_Name=TMEM216;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM216" target="_blank">TMEM216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334888;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000515837;SAVANT_GENE=TMEM216;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM216" target="_blank">TMEM216</a>;SAVANT_INFO=+/7.2kb/5/2.0kb;SAVANT_LOC=Ex4;SAVANT_HGVS=c.264G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM216+c.264G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61165280">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000114238" target="_blank">Likely_benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:80,83:163:99:2263,0,2534:127	1|1:0,180:180:99:6101,541,0:127	0|1:76,81:157:99:2361,0,2409:127
11	61165731	.	C	CA	19411.98	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=347;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Joubert_syndrome_2|_608091_(3)|_Meckel_syndrome_2|_603194_(3);dbSNP139.ID=rs11382548;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=11382548" target="_blank">rs11382548</a>;ExAC.Info.AC=107225;ExAC.Info.AN=124912;ExAC.Info.AF=0.858;ExAC.Info.AC_Het=14442;ExAC.Info.AC_Hom=44654;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.432-1_432insA;snpeff.Amino_Acid_length=148;snpeff.Gene_Name=TMEM216;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM216" target="_blank">TMEM216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334888;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=splice_acceptor_variant;snpeff.Effect_Impact=HIGH;snpeff.Amino_Acid_Change=c.432_433insA;snpeff.Amino_Acid_length=148;snpeff.Gene_Name=TMEM216;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM216" target="_blank">TMEM216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334888;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;LOF=(TMEM216|ENSG00000187049|1|1.00);TYPE=Insertion;SAVANT_ENST=ENST00000515837;SAVANT_GENE=TMEM216;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM216" target="_blank">TMEM216</a>;SAVANT_INFO=+/7.2kb/5/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.432-11_432-10insA;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=SS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM216+c.432-11_432-10insA+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61165731">View</a>	GT:AD:DP:GQ:PL:TP	0|1:81,51:132:99:1901,0,3663:127	1|1:0,107:107:99:4940,334,0:127	0|1:63,45:108:99:1719,0,2896:127
11	61165741	.	G	C	19480.03	PASS	InGeneList;InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=367;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;OMIM_phenotypes.name=Joubert_syndrome_2|_608091_(3)|_Meckel_syndrome_2|_603194_(3);dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.FathmmPred=D;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs10897158;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=10897158" target="_blank">rs10897158</a>;cosmic68.Histology_subtype=secretory;ExAC.Info.AC=101662;ExAC.Info.AN=124944;ExAC.Info.AF=0.814;ExAC.Info.AC_Het=15898;ExAC.Info.AC_Hom=41502;Clinvar.ClinicalSignificance=Benign;Clinvar.RCVaccession=RCV000114239;Clinvar.PhenotypeIDs=MedGen:CN169374;Clinvar.Guidelines=-;Clinvar.ReviewStatus=classified_by_single_submitter;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aGg/aCg;snpeff.Amino_Acid_Change=p.Arg147Thr/c.440G>C;snpeff.Amino_Acid_length=148;snpeff.Gene_Name=TMEM216;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM216" target="_blank">TMEM216</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000334888;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000515837;SAVANT_GENE=TMEM216;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM216" target="_blank">TMEM216</a>;SAVANT_INFO=+/7.2kb/5/2.0kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.432-1G>C;SAVANT_EFFECT=SPLICE_SITE;SAVANT_IMPACT=HIGH;SAVANT_CLASS=ESS;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=TMEM216+c.432-1G>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61165741">View</a>;Link_Clinvar=<a href="http://www.ncbi.nlm.nih.gov/clinvar?term=RCV000114239" target="_blank">Benign</a> 	GT:AD:DP:GQ:PL:TP	0|1:88,55:143:99:1987,0,3862:127	1|1:0,114:114:99:4998,346,0:127	0|1:64,46:110:99:1688,0,2854:127
11	61179285	.	G	A	4106.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=85;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3019198;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3019198" target="_blank">rs3019198</a>;ExAC.Info.AC=103930;ExAC.Info.AN=126704;ExAC.Info.AF=0.820;ExAC.Info.AC_Het=15875;ExAC.Info.AC_Hom=44013;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=atC/atT;snpeff.Amino_Acid_Change=p.Ile446Ile/c.1338C>T;snpeff.Amino_Acid_length=514;snpeff.Gene_Name=CPSF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF7" target="_blank">CPSF7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000340437;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000340437;SAVANT_GENE=CPSF7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPSF7" target="_blank">CPSF7</a>;SAVANT_INFO=-/27.3kb/10/3.7kb;SAVANT_LOC=Ex8;SAVANT_HGVS=c.1338C>T_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=CPSF7+c.1338C>T+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61179285">View</a>	GT:AD:DP:GQ:PL:TP	0|1:10,13:23:99:383,0,278:47	1|1:2,30:32:47:999,47,0:47	0|1:15,15:30:99:457,0,496:47
11	61204361	.	A	C	7087.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=152;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Paragangliomas_2|_601650_(3);dbSNP139.ID=rs896831;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=896831" target="_blank">rs896831</a>;ExAC.Info.AC=12765;ExAC.Info.AN=14978;ExAC.Info.AF=0.852;ExAC.Info.AC_Het=1240;ExAC.Info.AC_Hom=4440;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.37-736A>C;snpeff.Amino_Acid_length=162;snpeff.Gene_Name=RP11-286N22.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-286N228" target="_blank">RP11-286N228</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000541135;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.37-736A>C;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=SDHAF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-286N228" target="_blank">RP11-286N228</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301761;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37A>C;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=SDHAF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-286N228" target="_blank">RP11-286N228</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301761;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transit_peptide:Mitochondrion];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.37A>C;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=SDHAF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-286N228" target="_blank">RP11-286N228</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301761;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000301761:ENST00000541135;SAVANT_GENE=SDHAF2:RP11-286N22.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDHAF2:RP11-286N228" target="_blank">SDHAF2:RP11-286N228</a>;SAVANT_INFO=+/17.5kb/4/2.0kb:+/51.8kb/5/0.6kb;SAVANT_LOC=In1/2:In1/2;SAVANT_HGVS=c.37-736A>C:c.37-736A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDHAF2:RP11-286N228+c.37-736A>C:c.37-736A>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61204361">View</a>	GT:AD:DP:GQ:PL:TP	0|1:25,27:52:99:782,0,726:127	1|1:0,52:52:99:1913,156,0:127	0|1:29,19:48:99:590,0,892:127
11	61205434	.	G	A	19659.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=476;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;ACMG_genes.name=ACMG_gene;OMIM_phenotypes.name=Paragangliomas_2|_601650_(3);dbSNP139.ID=rs879647;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=879647" target="_blank">rs879647</a>;ExAC.Info.AC=103497;ExAC.Info.AN=126556;ExAC.Info.AF=0.818;ExAC.Info.AC_Het=15610;ExAC.Info.AC_Hom=42971;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.261-42G>A;snpeff.Amino_Acid_length=162;snpeff.Gene_Name=RP11-286N22.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-286N228" target="_blank">RP11-286N228</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000541135;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.261-42G>A;snpeff.Amino_Acid_length=166;snpeff.Gene_Name=SDHAF2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-286N228" target="_blank">RP11-286N228</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000301761;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000301761:ENST00000541135;SAVANT_GENE=SDHAF2:RP11-286N22.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SDHAF2:RP11-286N228" target="_blank">SDHAF2:RP11-286N228</a>;SAVANT_INFO=+/17.5kb/4/2.0kb:+/51.8kb/5/0.6kb;SAVANT_LOC=In2/3:In2/3;SAVANT_HGVS=c.261-42G>A:c.261-42G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SDHAF2:RP11-286N228+c.261-42G>A:c.261-42G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61205434">View</a>	GT:AD:DP:GQ:PL:TP	0|1:75,50:125:99:1413,0,2535:127	1|1:0,172:172:99:5918,517,0:127	0|1:110,69:179:99:1929,0,3616:127
11	61249383	.	C	A	19769.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=418;MQ=70.00;MQ0=0;culprit=DP;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs3019200;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=3019200" target="_blank">rs3019200</a>;ExAC.Info.AC=102931;ExAC.Info.AN=126692;ExAC.Info.AF=0.812;ExAC.Info.AC_Het=17936;ExAC.Info.AC_Hom=42261;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=RP11-286N22.8;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-286N228" target="_blank">RP11-286N228</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=acC/acA;snpeff.Amino_Acid_Change=p.Thr34Thr/c.102C>A;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=PPP1R32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-286N228" target="_blank">RP11-286N228</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338608;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338608;SAVANT_GENE=PPP1R32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R32" target="_blank">PPP1R32</a>;SAVANT_INFO=+/9.8kb/14/1.5kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.102C>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPP1R32+c.102C>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61249383">View</a>	GT:AD:DP:GQ:PL:TP	0|1:53,73:126:99:1910,0,1292:127	1|1:0,163:163:99:5329,489,0:127	0|1:73,56:129:99:1582,0,2077:127
11	61253973	.	A	G	14081.03	PASS	InheritancePattern=Normal;AC=4;AF=0.667;AN=6;DP=285;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|1;NA12891_GT=1|1;dbSNP139.ID=rs2957858;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2957858" target="_blank">rs2957858</a>;ExAC.Info.AC=100798;ExAC.Info.AN=126686;ExAC.Info.AF=0.796;ExAC.Info.AC_Het=18418;ExAC.Info.AC_Hom=40914;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.748-23A>G;snpeff.Amino_Acid_length=425;snpeff.Gene_Name=PPP1R32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R32" target="_blank">PPP1R32</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000338608;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000338608;SAVANT_GENE=PPP1R32;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=PPP1R32" target="_blank">PPP1R32</a>;SAVANT_INFO=+/9.8kb/14/1.5kb;SAVANT_LOC=In8/9;SAVANT_HGVS=c.748-23A>G;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=PPP1R32+c.748-23A>G+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61253973">View</a>	GT:AD:DP:GQ:PL:TP	0|1:48,37:85:99:973,0,1356:127	1|1:0,103:103:99:3588,309,0:127	0|1:55,42:97:99:1105,0,1633:127
11	61313545	.	G	A	4314.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=130;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=T;dbNSFPv2.8.Polyphen2HdivPred=B;dbNSFPv2.8.MutationtasterPred=D;dbNSFPv2.8.FathmmPred=T|T|T;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;ExAC.Info.AC=8;ExAC.Info.AN=14382;ExAC.Info.AF=5.563e-04;ExAC.Info.AC_Het=4;ExAC.Info.AC_Hom=0;snpeff.Effect=missense_variant;snpeff.Effect_Impact=MODERATE;snpeff.Functional_Class=MISSENSE;snpeff.Codon_Change=aCg/aTg;snpeff.Amino_Acid_Change=p.Thr177Met/c.530C>T;snpeff.Amino_Acid_length=686;snpeff.Gene_Name=SYT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT7" target="_blank">SYT7</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000539008;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000263846;SAVANT_GENE=SYT7;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=SYT7" target="_blank">SYT7</a>;SAVANT_INFO=-/65.8kb/9/4.9kb;SAVANT_LOC=In3/4;SAVANT_HGVS=c.215+5311C>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=SYT7+c.215+5311C>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61313545">View</a>	GT:AD:DP:GQ:PL:TP	0|1:11,22:33:99:638,0,285:108	1|0:38,23:61:99:691,0,1146:108	0|0:36,0:36:99:0,108,1272:108
11	61404161	.	G	A	730.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=117;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs67140840;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=67140840" target="_blank">rs67140840</a>;ExAC.Info.AC=11611;ExAC.Info.AN=125466;ExAC.Info.AF=0.093;ExAC.Info.AC_Het=6100;ExAC.Info.AC_Hom=415;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.765G>A;snpeff.Gene_Name=RPLP0P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPLP0P2" target="_blank">RPLP0P2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000496593;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPLP0P2" target="_blank">RPLP0P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPLP0P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61404161">View</a>	GT:AD:DP:GQ:PL:TP	0|0:37,0:37:99:0,111,1307:110	0|0:55,0:55:99:0,165,2117:110	0|1:12,13:25:99:384,0,360:110
11	61404336	.	G	A	7772.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=252;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs17626916;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=17626916" target="_blank">rs17626916</a>;ExAC.Info.AC=29641;ExAC.Info.AN=126698;ExAC.Info.AF=0.234;ExAC.Info.AC_Het=21326;ExAC.Info.AC_Hom=4058;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.940G>A;snpeff.Gene_Name=RPLP0P2;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPLP0P2" target="_blank">RPLP0P2</a>;snpeff.Transcript_BioType=processed_transcript;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000496593;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=.;SAVANT_GENE=.;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RPLP0P2" target="_blank">RPLP0P2</a>;SAVANT_INFO=.;SAVANT_LOC=.;SAVANT_HGVS=.;SAVANT_CLASS=.;SAVANT_ALTANN=;Link_GoogleSearch=<a href="https://www.google.com/search?q=RPLP0P2+.+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61404336">View</a>	GT:AD:DP:GQ:PL:TP	0/1:44,36:80:99:999,0,1278:127	0/1:54,43:97:99:1129,0,1581:127	0/1:38,37:75:99:1068,0,1315:127
11	61487690	.	G	A	2967.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=136;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|0;NA12892_GT=1|0;NA12891_GT=0|0;dbSNP139.ID=rs198430;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=198430" target="_blank">rs198430</a>;cosmic68.Histology_subtype=NS;ExAC.Info.AC=34255;ExAC.Info.AN=126700;ExAC.Info.AF=0.270;ExAC.Info.AC_Het=24512;ExAC.Info.AC_Hom=4862;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.63G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccG/ccA;snpeff.Amino_Acid_Change=p.Pro21Pro/c.63G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257215;SAVANT_GENE=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;SAVANT_INFO=+/66.6kb/20/5.8kb;SAVANT_LOC=Ex2;SAVANT_HGVS=c.63G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAGLA+c.63G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61487690">View</a>	GT:AD:DP:GQ:PL:TP	1|0:18,26:44:99:660,0,483:127	0|0:63,0:63:99:0,189,2158:127	1|0:15,14:29:99:390,0,487:127
11	61490880	.	C	A	3850.76	VQSRTrancheSNP99.00to99.90	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=314;MQ=70.00;MQ0=0;culprit=ReadPosRankSum;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs9735635;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=9735635" target="_blank">rs9735635</a>;ExAC.Info.AC=18009;ExAC.Info.AN=126698;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=14959;ExAC.Info.AC_Hom=1505;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.410-26C>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.410C>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[transmembrane_region:Transmembrane_region];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.410C>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257215;SAVANT_GENE=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;SAVANT_INFO=+/66.6kb/20/5.8kb;SAVANT_LOC=In4/5;SAVANT_HGVS=c.410-26C>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAGLA+c.410-26C>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61490880">View</a>	GT:AD:DP:GQ:PL:TP	0|0:82,0:82:99:0,246,2810:127	0|0:120,0:120:99:0,360,4130:127	0|1:44,68:112:99:1944,0,1271:127
11	61505168	.	G	A	16903.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=269;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs198444;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=198444" target="_blank">rs198444</a>;ExAC.Info.AC=57537;ExAC.Info.AN=126702;ExAC.Info.AF=0.454;ExAC.Info.AC_Het=29985;ExAC.Info.AC_Hom=13767;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=gcG/gcA;snpeff.Amino_Acid_Change=p.Ala508Ala/c.1524G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257215;SAVANT_GENE=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;SAVANT_INFO=+/66.6kb/20/5.8kb;SAVANT_LOC=Ex15;SAVANT_HGVS=c.1524G>A_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAGLA+c.1524G>A+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61505168">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,82:82:99:2626,246,0:127	1|0:60,61:121:99:1572,0,1558:127	1|1:0,66:66:99:2153,198,0:127
11	61505583	.	G	A	796.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=147;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2240287;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2240287" target="_blank">rs2240287</a>;ExAC.Info.AC=18049;ExAC.Info.AN=126660;ExAC.Info.AF=0.142;ExAC.Info.AC_Het=14871;ExAC.Info.AC_Hom=1497;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1584-24G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1584G>A;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257215;SAVANT_GENE=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;SAVANT_INFO=+/66.6kb/20/5.8kb;SAVANT_LOC=In15/16;SAVANT_HGVS=c.1584-24G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAGLA+c.1584-24G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61505583">View</a>	GT:AD:DP:GQ:PL:TP	0|0:54,0:54:99:0,162,1823:127	0|0:59,0:59:99:0,177,2151:127	0|1:21,13:34:99:417,0,648:127
11	61505696	.	G	T	27422.76	PASS	InheritancePattern=Normal;AC=5;AF=0.833;AN=6;DP=434;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=1|1;NA12892_GT=1|1;NA12891_GT=1|0;dbSNP139.ID=rs198443;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=198443" target="_blank">rs198443</a>;ExAC.Info.AC=57380;ExAC.Info.AN=126522;ExAC.Info.AF=0.454;ExAC.Info.AC_Het=29152;ExAC.Info.AC_Hom=13126;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1656+17G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=18;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=19;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1657G>T;snpeff.Amino_Acid_length=1042;snpeff.Gene_Name=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000257215;snpeff.Exon_Rank=20;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000257215;SAVANT_GENE=DAGLA;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAGLA" target="_blank">DAGLA</a>;SAVANT_INFO=+/66.6kb/20/5.8kb;SAVANT_LOC=In16/17;SAVANT_HGVS=c.1656+17G>T;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=DAGLA+c.1656+17G>T+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61505696">View</a>	GT:AD:DP:GQ:PL:TP	1|1:0,148:148:99:4490,443,0:127	1|0:79,89:168:99:2395,0,2133:127	1|1:2,116:118:99:3749,304,0:127
11	61524507	.	T	C	852.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=120;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|0;dbSNP139.ID=rs2238001;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2238001" target="_blank">rs2238001</a>;ExAC.Info.AC=1935;ExAC.Info.AN=22528;ExAC.Info.AF=0.086;ExAC.Info.AC_Het=759;ExAC.Info.AC_Hom=84;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.442+48A>G;snpeff.Gene_Name=RP11-467L20.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000536405;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.46+4245T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278836;SAVANT_GENE=C11orf9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf9" target="_blank">C11orf9</a>;SAVANT_INFO=+/35.9kb/27/5.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.46+4245T>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf9+c.46+4245T>C+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61524507">View</a>	GT:AD:DP:GQ:PL:TP	0|0:38,0:38:99:0,114,1388:112	0|0:39,0:39:99:0,117,1363:112	0|1:27,16:43:99:445,0,888:112
11	61524974	.	G	A	8036.03	PASS	InheritancePattern=notInChild;AC=2;AF=0.333;AN=6;DP=429;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0|0;NA12892_GT=0|1;NA12891_GT=0|1;dbSNP139.ID=rs198460;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=198460" target="_blank">rs198460</a>;ExAC.Info.AC=8567;ExAC.Info.AN=19836;ExAC.Info.AF=0.432;ExAC.Info.AC_Het=3718;ExAC.Info.AC_Hom=1827;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.148C>T;snpeff.Gene_Name=RP11-467L20.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000536405;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.46+4712G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278836;SAVANT_GENE=C11orf9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf9" target="_blank">C11orf9</a>;SAVANT_INFO=+/35.9kb/27/5.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.46+4712G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf9+c.46+4712G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61524974">View</a>	GT:AD:DP:GQ:PL:TP	0|0:137,0:137:99:0,412,4947:127	0|1:75,80:155:99:2272,0,2245:127	0|1:71,66:137:99:1766,0,2024:127
11	61525020	.	G	A	2832.76	PASS	InheritancePattern=notInChild;AC=1;AF=0.167;AN=6;DP=295;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|0;NA12892_GT=0|0;NA12891_GT=0|1;dbSNP139.ID=rs198459;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=198459" target="_blank">rs198459</a>;ExAC.Info.AC=2250;ExAC.Info.AN=21196;ExAC.Info.AF=0.106;ExAC.Info.AC_Het=1508;ExAC.Info.AC_Hom=207;snpeff.Effect=non_coding_exon_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=n.102C>T;snpeff.Gene_Name=RP11-467L20.10;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=lincRNA;snpeff.Gene_Coding=NON_CODING;snpeff.Transcript_ID=ENST00000536405;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.46+4758G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.47G>A;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=RP11-467L2010" target="_blank">RP11-467L2010</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278836;SAVANT_GENE=C11orf9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf9" target="_blank">C11orf9</a>;SAVANT_INFO=+/35.9kb/27/5.9kb;SAVANT_LOC=In1/2;SAVANT_HGVS=c.46+4758G>A;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=INTR;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf9+c.46+4758G>A+" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61525020">View</a>	GT:AD:DP:GQ:PL:TP	0|0:109,0:109:99:0,328,3959:127	0|1:42,48:90:99:1435,0,1348:127	0|0:96,0:96:99:0,288,3322:127
11	61534872	.	A	C	11833.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=428;MQ=69.97;MQ0=0;culprit=FS;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbNSFPv2.8.SiftPred=D;dbNSFPv2.8.MutationtasterPred=P;dbNSFPv2.8.MetasvmPred=T;dbNSFPv2.8.MetalrPred=T;dbSNP139.ID=rs547589;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=547589" target="_blank">rs547589</a>;ExAC.Info.AC=10995;ExAC.Info.AN=17764;ExAC.Info.AF=0.619;ExAC.Info.AC_Het=2511;ExAC.Info.AC_Hom=3489;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.398+1179A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.399A>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYRF" target="_blank">MYRF</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000398976:ENST00000278836;SAVANT_GENE=AP002380.1:C11orf9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP0023801:C11orf9" target="_blank">AP0023801:C11orf9</a>;SAVANT_INFO=+/3.0kb/2/1.5kb:+/35.9kb/27/5.9kb;SAVANT_LOC=Ex2:In3/4;SAVANT_HGVS=c.473A>C_p.Tyr158Ser:c.398+1179A>C;SAVANT_EFFECT=INTRON;SAVANT_IMPACT=LOW;SAVANT_CLASS=NSC:INTR;SAVANT_ALTANN=None:None;Link_GoogleSearch=<a href="https://www.google.com/search?q=AP0023801:C11orf9+c.473A>C+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61534872">View</a>	GT:AD:DP:GQ:PL:TP	0|1:54,56:110:99:1552,0,1327:127	1|0:82,93:175:99:2743,0,2102:127	0|0:143,0:143:99:0,429,4676:127
11	61539020	.	C	G	9349.34	PASS	InheritancePattern=Normal;AC=3;AF=0.500;AN=6;DP=244;MQ=70.00;MQ0=0;culprit=FS;NA12878i_GT=0/1;NA12892_GT=0/1;NA12891_GT=0/1;dbSNP139.ID=rs149803;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=149803" target="_blank">rs149803</a>;ExAC.Info.AC=23363;ExAC.Info.AN=126698;ExAC.Info.AF=0.184;ExAC.Info.AC_Het=17483;ExAC.Info.AC_Hom=2928;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TMEM258;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[compositionally_biased_region:Pro-rich];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=1;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=5;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=2;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=4;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=3;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=16;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=14;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=17;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=synonymous_variant;snpeff.Effect_Impact=LOW;snpeff.Functional_Class=SILENT;snpeff.Codon_Change=ccC/ccG;snpeff.Amino_Acid_Change=p.Pro263Pro/c.789C>G;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;TYPE=SNP;SAVANT_ENST=ENST00000278836;SAVANT_GENE=C11orf9;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=C11orf9" target="_blank">C11orf9</a>;SAVANT_INFO=+/35.9kb/27/5.9kb;SAVANT_LOC=Ex6;SAVANT_HGVS=c.789C>G_p.=;SAVANT_EFFECT=SYNONYMOUS;SAVANT_IMPACT=LOW;SAVANT_CLASS=SC;SAVANT_ALTANN=None;Link_GoogleSearch=<a href="https://www.google.com/search?q=C11orf9+c.789C>G+p" target="_blank">Google It!</a>;Link_IGV=<a href="http://localhost:60151/goto?locus=11:61539020">View</a>	GT:AD:DP:GQ:PL:TP	0/1:37,36:73:99:965,0,1103:127	0/1:51,48:99:99:1334,0,1602:127	0/1:25,47:72:99:1345,0,655:127
11	61543499	.	T	C	6088.03	PASS	InheritancePattern=Normal;AC=2;AF=0.333;AN=6;DP=276;MQ=70.00;MQ0=0;culprit=QD;NA12878i_GT=0|1;NA12892_GT=0|0;NA12891_GT=1|0;dbSNP139.ID=rs174528;Link_dbSNP=<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=174528" target="_blank">rs174528</a>;ExAC.Info.AC=50884;ExAC.Info.AN=126682;ExAC.Info.AF=0.402;ExAC.Info.AC_Het=27289;ExAC.Info.AC_Hom=11643;snpeff.Effect=intragenic_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Gene_Name=TMEM258;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Gene_Coding=CODING;snpeff.Genotype_Number=1;snpeff.Effect=intron_variant;snpeff.Effect_Impact=MODIFIER;snpeff.Amino_Acid_Change=c.1312-29T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=7;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=6;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=8;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=10;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=11;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=9;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[DNA-binding_region:NDT80];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=12;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=13;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topological_domain:Cytoplasmic];snpeff.Effect_Impact=LOW;snpeff.Amino_Acid_Change=c.1312T>C;snpeff.Amino_Acid_length=1151;snpeff.Gene_Name=MYRF;Link_GeneCards=<a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM258" target="_blank">TMEM258</a>;snpeff.Transcript_BioType=protein_coding;snpeff.Gene_Coding=CODING;snpeff.Transcript_ID=ENST00000278836;snpeff.Exon_Rank=15;snpeff.Genotype_Number=1;snpeff.Effect=sequence_feature[topologic